tag:blogger.com,1999:blog-9544535516721980112024-03-21T15:13:38.398-07:00Rock your chromosomeAnonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.comBlogger24125tag:blogger.com,1999:blog-954453551672198011.post-86612384871270308032013-03-12T02:04:00.001-07:002013-03-15T10:08:29.594-07:00THALIDOMIDE SYNDROME<span style="font-family: Arial, Helvetica, sans-serif;"><b>Overview</b>: <span lang="FIL-PH">When an individual
is born with phocomelia due to drugs or pharmaceuticals, it is known as </span><span lang="FIL-PH"><span style="color: windowtext; text-decoration: none;">thalidomide</span></span><span lang="FIL-PH"> syndrome.<span class="apple-converted-space"> </span></span></span><br />
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;">According to
National Organization for Rare Disorders (NORD): when phocomelia is transmitted
[in its familial genetic form] it is seen as an autosomal recessive trait and
the mutation is linked to chromosome 8<o:p></o:p></span></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;">Recessive genetic
disorders occur when a person receives identical “abnormal genes” from both the
father and mother. If a person inherits one normal gene and one gene for the
disease, the individual will become a carrier for the disease; however, they
normally do not show symptoms. The chance for two carrier parents to both
supply the defective gene and produce a child with symptoms is 25 percent with
each pregnancy.</span><br />
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<div class="separator" style="clear: both; text-align: center;">
<a href="http://www.chm.bris.ac.uk/motm/thalidomide/first_pic.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="220" src="http://www.chm.bris.ac.uk/motm/thalidomide/first_pic.jpg" width="320" /></a></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency: </b>10/ 10,000 births</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><b>Phenotype:</b> <span style="background-color: white;">The
symptoms of thalidomide syndrome are defined by absent or shortened limbs;
causing flipper hands and feet. According to Anthony J Perri III, and Sylvia
Hsu they can additionally receive:</span></span></div>
<div class="MsoNormal" style="background: white; margin-left: 19.2pt; mso-list: l0 level1 lfo1; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Palsy disorder of the face<o:p></o:p></span></div>
<div class="MsoNormal" style="background: white; margin-left: 19.2pt; mso-list: l0 level1 lfo1; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Ear and eye abnormalities;
resulting in limited/complete loss of hearing or sight<o:p></o:p></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Gastrointestinal and
genitourinary tract disorders<o:p></o:p></span></div>
<div class="MsoNormal" style="background: white; margin-left: 19.2pt; mso-list: l0 level1 lfo1; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Ingrown genitalia<o:p></o:p></span></div>
<div class="MsoNormal" style="background: white; margin-left: 19.2pt; mso-list: l0 level1 lfo1; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Undeveloped/missing lungs<o:p></o:p></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;">Distorted digestive tract, heart, kidney</span><br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis:</b> <span style="background-color: white;">thalidomide syndrome is first diagnosed through the use of ultrasound
examination during the first 17 weeks of gestation, which may already show
visible abnormalities. Poor fetus development and growth as well as
malformations and defects may also be readily detected during regular
ultrasound examinations.</span></span></div>
<div>
<span style="background-color: white;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment:</b> <span style="background-color: white;">Patients that receive a loss of limbs due to phocomelia are typically
treated with prosthetics. Infants at the age of 6 months are recommended to
have a prosthetic mitten fitted; enabling them to get used to the prosthesis. A
hook will be added when the child reaches the age of 2 years. Eventually the
patient may receive a myoelectric prosthetic limb. Patients are treated in this
way due to the lack of understanding at a young age and the absence of
necessary tissues and bones to hold the prosthetic limb.</span></span></div>
<div>
<span style="background-color: white;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Advices: </b>Children born with
Thalidomide syndrome may find it hard to live a life with full opportunities
due to the fact that they are phenotipically incapacitated. For the survivors,
decades of coping with stunted, twisted or missing limbs has meant greater wear
and tear on remaining joints and muscles, and virtually guaranteed the
premature onset of arthritis and chronic pain.</span></div>
<span style="font-family: Arial, Helvetica, sans-serif;">It is important to tell the affected individual
that a disability isn't always negative and doesn't always result in pain and
dependency on others. Encouragement, love and support are always the best
remedy to whatever disabilities one is encountering.</span><br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b> Dove, F. (2011). What's
happened to Thalidomide babies? Retrieved on March 12, 2013 from <a href="http://www.bbc.co.uk/news/magazine-15536544">http://www.bbc.co.uk/news/magazine-15536544</a></span></div>
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<br /></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;">Gollop TR, Eigier A, Guidugli
Neto J. (1987). Prenatal diagnosis of thalidomide syndrome. Retrieved on March
12, 2013 from <a href="http://www.ncbi.nlm.nih.gov/pubmed/3295847">http://www.ncbi.nlm.nih.gov/pubmed/3295847</a><o:p></o:p></span></div>
<div class="MsoNormal">
<br /></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="font-size: small;">Mossop, D. (2012). Fetal Thalidomide Syndrome.
Retrieved on March 12, 2013 from
</span>http://www.dianamossop.com/tabid/222/ref/1362/fetal-thalidomide-syndrome.aspx</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<span style="font-family: Arial, Helvetica, sans-serif;">Photo from: http://www.chm.bris.ac.uk/motm/thalidomide/first_pic.jpg</span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-7776993509031539782013-03-12T01:56:00.000-07:002013-03-15T10:09:33.551-07:00Wolf-Hirschhorn Syndrome<h2>
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><br /></span></h2>
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<span style="font-family: Arial, Helvetica, sans-serif;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjXrFTNKz9va7SlCZN7SwWQGlLC4dyQzml6SHy9fGhUNhOYuTvHVphDOP97vNPInVXAb-Lw3CUY8b_V5F3uaXkefi2B1hh-1ywWjuuYfRShIqHdoSsJasV2DBsabzze0ocyI-Q9Su8PTdyh/s1600/DSC_0033soft.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjXrFTNKz9va7SlCZN7SwWQGlLC4dyQzml6SHy9fGhUNhOYuTvHVphDOP97vNPInVXAb-Lw3CUY8b_V5F3uaXkefi2B1hh-1ywWjuuYfRShIqHdoSsJasV2DBsabzze0ocyI-Q9Su8PTdyh/s320/DSC_0033soft.jpg" width="220" /></a> <a href="http://upload.wikimedia.org/wikipedia/commons/f/ff/Wolf-hirschhorn.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="213" src="http://upload.wikimedia.org/wikipedia/commons/f/ff/Wolf-hirschhorn.jpg" width="320" /></a></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="background-position: initial initial; background-repeat: initial initial; font-size: 12pt;"><b><br /></b></span>
<span style="background-position: initial initial; background-repeat: initial initial; font-size: 12pt;"><b><br /></b></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="background-position: initial initial; background-repeat: initial initial; font-size: 12pt;"><b><span style="font-family: Arial, Helvetica, sans-serif;">Characteristics/Phenotype</span></b></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="background-position: initial initial; background-repeat: initial initial; font-size: 12pt;">Wolf-Hirschhorn syndrome in 1961. They
described a child with midline fusion defects, and subsequent cytogenetic
studies revealed a chromosomal deletion of the short arm of chromosome 4. </span><span style="background-position: initial initial; background-repeat: initial initial; font-size: 12pt;">Wolf-Hirschhorn syndrome (WHS) refers to a condition that is
caused by a missing part (deletion) of the short arm of chromosome 4. This
missing genetic material results in severe developmental delays, a
characteristic facial appearance, and may include a variety of other birth
defects. The short arm of a chromosome is called the “p” arm. Thus, this
syndrome is also known as 4p-syndrome or deletion 4p syndrome, and occasionally
as Wolf syndrome. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Almost everyone with this
disorder has distinctive facial features, including a broad, flat nasal bridge
and a high forehead. The eyes are widely spaced and may be protruding. Other
characteristic facial features include a shortened distance between the nose
and upper lip (a short philtrum), a downturned mouth, a small chin
(micrognathia), and poorly formed ears with small holes (pits) or flaps of skin
(tags). Additionally, affected individuals may have asymmetrical facial
features and an unusually small head (microcephaly).<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">People with
Wolf-Hirschhorn syndrome experience delayed growth and development. Slow growth
begins before birth, and affected infants tend to have problems feeding and
gaining weight (failure to thrive). They also have weak muscle tone (hypotonia)
and underdeveloped muscles. Motor skills such as sitting, standing, and walking
are significantly delayed. Most children and adults with this disorder also
have short stature.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Intellectual disability
ranges from mild to severe in people with Wolf-Hirschhorn syndrome. Compared to
people with other forms of intellectual disability, their socialization skills
are strong, while verbal communication and language skills tend to be weaker.
Most affected children also have seizures, which may be resistant to treatment.
Seizures tend to disappear with age.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Additional features of
Wolf-Hirschhorn syndrome include skin changes such as mottled or dry skin,
skeletal abnormalities such as abnormal curvature of the spine (scoliosis and
kyphosis), dental problems including missing teeth, and an opening in the roof
of the mouth (cleft palate) and/or in the lip (cleft lip). Wolf-Hirschhorn
syndrome can also cause abnormalities of the eyes, heart, genitourinary tract,
and brain.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">A condition called
Pitt-Rogers-Danks syndrome has features that overlap with those of
Wolf-Hirschhorn syndrome. Researchers now recognize that these two conditions
are actually part of a single syndrome with variable signs and symptoms.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;">It has been estimated that approximately 35% of
individuals who have WHS die within the first two years of life. Many individuals
who have WHS survive to adulthood. Universally, children with WHS have severe
or profound developmental delays, however, there are many affected individuals
who are able to walk and some that are able to talk in short sentences.</span><span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><o:p></o:p></span></span></div>
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<span style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><b><span style="font-family: Arial, Helvetica, sans-serif;">Frequency</span></b></span></div>
<div class="MsoNormal" style="background: white;">
</div>
<div class="MsoNormal" style="text-align: justify;">
<span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">The
prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 births.
However, this may be an underestimate because it is likely that some affected
individuals are never diagnosed.<o:p></o:p></span></span></div>
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;">For
unknown reasons, Wolf-Hirschhorn syndrome occurs in about twice as many females
as males.</span></span><br />
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH"><b><span style="font-family: Arial, Helvetica, sans-serif;">Diagnosis</span></b></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"></span></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;">When WHS is suspected, chromosome
analysis should be performed and the laboratory should be informed as to what
syndrome is suspected. If the deletion is not visible, then fluorescent in situ
hybridization (FISH) can be done specifically for the critical 4p16.3 region of
chromosome 4. <o:p></o:p></span></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Interestingly, there is a syndrome
called Pitt-Rogers-Danks syndrome (PRDS) that has been reported to have similar
characteristics to WHS. Several individuals who have initially been diagnosed
with PRDS subsequently had FISH analysis that detected a deletion of 4p, and
thus the individuals were reclassified as having WHS. Some feel that PRDS is
actually WHS without obvious deletions of 4p.<o:p></o:p></span></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;">When a couple has had a child diagnosed
to have WHS, and a member of that couple carries a balanced
translocation, genetic counseling should be offered to discuss
reproductive options. <o:p></o:p></span></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;">If ultrasound examination reveals
findings consistent with the possibility of WHS in a family with no history of
WHS, genetic counseling and prenatal diagnosis should be offered.</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH"><b><span style="font-family: Arial, Helvetica, sans-serif;">Causes</span></b></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Wolf-Hirschorn is caused by a
chromosomal deletion that occurs as a random (de novo) event during the
formation of reproductive cells (eggs or sperm) or in early embryonic
development. More complex chromosomal rearrangements can also occur as de novo
events, which may help explain the variability in the condition's signs and
symptoms. De novo chromosomal changes occur in people with no history of the
disorder in their family.<o:p></o:p></span></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;">A small percentage of all people with
Wolf-Hirschhorn syndrome have the disorder as a result of an unusual
chromosomal abnormality such as a ring chromosome 4. Ring chromosomes occur
when a chromosome breaks in two places and the ends of the chromosome arms fuse
together to form a circular structure. In the process, genes near the ends of
the chromosome are lost.<o:p></o:p></span></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;">In the remaining cases of
Wolf-Hirschhorn syndrome, an affected individual inherits a copy of chromosome
4 with a deleted segment. In these cases, one of the individual's parents
carries a chromosomal rearrangement between chromosome 4 and another
chromosome. This rearrangement is called a balanced translocation. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH"><span style="background-color: transparent;"><span style="font-family: Arial, Helvetica, sans-serif;">Between 85 and 90
percent of all cases of Wolf-Hirschhorn syndrome are not inherited.</span></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH"><b><span style="font-family: Arial, Helvetica, sans-serif;">Treatment</span></b></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">There is no treatment for
the underlying condition of WHS. Treatment and management for patients who have
WHS are specific to each individual. For example, some individuals who have WHS
may have heart defects or a cleft lip and/or palate that may require surgery,
while others may not. Therefore, there is no specific treatment for individuals
who have WHS, rather, the treatment and management is geared toward that
particular individual’s needs and is likely to include several medical
specialists. Physiotherapy and occupational therapy are recommended. Some
patients require physical aids, e.g. wheel chair, splints, hearing aids etc.
Patients with congenital heart defects, clubfeet, and cryptorchidism have to be
surgically treated. Those with seizures need
recurrent EEGs and antiepileptic drugs. Information about patients who
have WHS has been compiled and provides a comprehensive look into the natural
history of this condition and the needed management. The collection of this
information has shown that many of these individuals may achieve more development
than was previously believed possible.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">The following management
recommendations have been made by Drs. Battaglia and Carey @
http://wolfhirschhorn.org/about-wolf-hirschhorn-syndrome/:<o:p></o:p></span></span></div>
<ul style="margin-top: 0in;" type="disc">
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Feeding problems should be addressed and may require interventionsuch
as placement of a gastrostomy tube.<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Characterization of seizures is important and
treatment with antiepileptic medications such as valproic acid should
be investigated and may help control the seizure activity in many
individuals.<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Skeletal abnormalities such as clubfoot
should be addressed and treatment should be considered. It should not be
assumed that clubfoot does not need addressed because the child will never
walk. Children with WHS have learned to walk unassisted.<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">As approximately 30% of individuals may have
congenital heart defects, the heart should be examined. <o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Hearing loss may occur and because some
children are able to learn to talk in short sentences, they should
be screened for hearing problems.<o:p></o:p></span></span></li>
</ul>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH"><span style="background-color: transparent;"><span style="font-family: Arial, Helvetica, sans-serif;">Eye abnormalities
may be present and thus an ophthalmology exam should be performed to rule
out any eye problems, even if no obvious signs are present.</span></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="FIL-PH"><b><span style="font-family: Arial, Helvetica, sans-serif;">Advices</span></b></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"> </span><span style="background-color: transparent;">In
regards to the development of patients with WHS, it is suggested that
individuals participate in personal development programs to assist with social
and occupational therapy for motor skills.</span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="background-color: transparent;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="background-color: transparent;"><b><span style="font-family: Arial, Helvetica, sans-serif;">References</span></b></span></div>
<div class="MsoNormal" style="background: white;">
</div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><a href="https://www.orpha.net/data/patho/GB/uk-WHS.pdf"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">https://www.orpha.net/data/patho/GB/uk-WHS.pdf</span></a><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><a href="http://wolfhirschhorn.org/about-wolf-hirschhorn-syndrome/"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://wolfhirschhorn.org/about-wolf-hirschhorn-syndrome/</span></a><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><a href="http://emedicine.medscape.com/article/950480-overview"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://emedicine.medscape.com/article/950480-overview</span></a><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><a href="http://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome">http://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome</a></span><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-bidi-font-family: Arial;"><br /></span>
<span style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-bidi-font-family: Arial;">Photos from:</span><br />
<span style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-bidi-font-family: Arial;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjXrFTNKz9va7SlCZN7SwWQGlLC4dyQzml6SHy9fGhUNhOYuTvHVphDOP97vNPInVXAb-Lw3CUY8b_V5F3uaXkefi2B1hh-1ywWjuuYfRShIqHdoSsJasV2DBsabzze0ocyI-Q9Su8PTdyh/s1600/DSC_0033soft.jpg</span><br />
<span style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-bidi-font-family: Arial;">http://upload.wikimedia.org/wikipedia/commons/f/ff/Wolf-hirschhorn.jpg</span></div>
<br />Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-72129503305494973052013-03-12T01:53:00.005-07:002013-03-15T10:10:22.532-07:00Phenylketonuria<h2>
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><br /></span></h2>
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiB0CbaLQJvDdEY3-2fNCIddJsxl0DfHZiNiGYE2B2T5ZitnTwn7nKlzynxGpkqEHYsBiq7wx-tmKPNwS29xoCV0dSZIKMvKAHqfhQ-0Qf76JuIKt3L-veewnz2V9qxLmXu-lHEXB8ubWY/s1600/images+(3).jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="305" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiB0CbaLQJvDdEY3-2fNCIddJsxl0DfHZiNiGYE2B2T5ZitnTwn7nKlzynxGpkqEHYsBiq7wx-tmKPNwS29xoCV0dSZIKMvKAHqfhQ-0Qf76JuIKt3L-veewnz2V9qxLmXu-lHEXB8ubWY/s400/images+(3).jpg" width="400" /></span></a></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Characteristics/Phenotype</b></span></div>
<div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Phenylketonuria is a rare metabolic <span style="background-color: white; background-position: initial initial; background-repeat: initial initial;">condition in which a baby is born without the
ability to properly break down an amino acid called phenylalanine. </span>If not treated
shortly after birth, PKU can be destructive to the nervous system, causing
mental retardation.<o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Phenylketonuria (commonly
known as PKU) is an inherited disorder that increases the levels of a substance
called phenylalanine in the blood. Phenylalanine is a building block of
proteins (an amino acid) that is obtained through the diet. It is found in all
proteins and in some artificial sweeteners. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;">This condition is inherited in an autosomal
recessive pattern, which means both copies of the gene in each cell
have mutations. The parents of an individual with an autosomal recessive
condition each carry one copy of the mutated gene, but they typically do not
show signs and symptoms of the condition.</span><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">If PKU is not treated,
phenylalanine can build up to harmful levels in the body, causing intellectual
disability and other serious health problems. The signs and symptoms of PKU
vary from mild to severe. The most severe form of this disorder is known as
classic PKU. Infants with classic PKU appear normal until they are a few months
old. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Helvetica;">Babies born with PKU usually have no
symptoms at first. But if the disease is left untreated, babies experience
severe brain damage. This damage can cause epilepsy, behavioral problems, and
stunt the growth of the baby. Other symptoms include: eczema (skin rash), a
musty body odor (from too much phenylalanine), a small head (microcephaly), and
fair skin (because phenylalanine is necessary for skin pigmentation). </span><span lang="EN-US" style="background-position: initial initial; background-repeat: initial initial; font-size: 12pt;">Children with classic PKU
tend to have lighter skin and hair than unaffected family members. <o:p></o:p></span></span></div>
<span lang="EN-US" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-size: 12pt;"><span style="font-family: Arial, Helvetica, sans-serif;">Less severe forms of this
condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have
a smaller risk of brain damage. People with very mild cases may not require
treatment with a low-phenylalanine diet.</span></span></div>
<div>
<span lang="EN-US" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-size: 12pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency</b></span></div>
<div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">The occurrence of PKU varies among ethnic groups and geographic
regions worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000
newborns. </span></span></div>
<div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis</b></span></div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">Because PKU must be treated early, babies are
routinely tested for the disease. Diagnosis is made through Newborn Screening.
A small blood sample is taken from the baby's heel or arm and checked in a
laboratory for high levels of phenylalanine.</span></span><br />
<div>
<span lang="EN-US" style="font-family: Arial, Helvetica, sans-serif; font-size: 11.0pt; mso-ansi-language: EN-US; mso-ascii-theme-font: minor-latin; mso-bidi-font-family: Helvetica; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin; mso-hansi-theme-font: minor-latin;"><br /></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Cause/s</b></span></div>
<div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">PKU is caused by a mutation in a gene on
chromosome 12. The gene codes for a protein called PAH (phenylalanine
hydroxylase), an enzyme in the liver. This enzyme breaks down the amino acid
phenylalanine into other products the body needs. When this gene is mutated,
the shape of the PAH enzyme changes and it is unable to properly break down
phenylalanine. Phenylalanine builds up in the blood and poisons nerve cells
(neurons) in the brain.</span></span></div>
<div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatments/ Recommendations</b></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="font-family: "Calibri","sans-serif"; font-size: 12.0pt; mso-ansi-language: EN-US; mso-ascii-theme-font: minor-latin; mso-bidi-font-family: Helvetica; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin; mso-hansi-theme-font: minor-latin;">P</span><span lang="EN-US">eople who have PKU must eat a protein-free
diet, because nearly all proteins contain phenylalanine. Infants are given a
special formula without phenylalanine. Older children and adults have to avoid
protein-rich foods such as meat, eggs, cheese, and nuts. They must also avoid
artificial sweeteners with aspertame, which contains phenylalanine.</span></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>References</b></span></div>
<div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://www.medicinenet.com/phenylketonuria/article.htm"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://www.medicinenet.com/phenylketonuria/article.htm</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://learn.genetics.utah.edu/content/disorders/whataregd/pku/"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://learn.genetics.utah.edu/content/disorders/whataregd/pku/</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://ghr.nlm.nih.gov/condition/phenylketonuria"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://ghr.nlm.nih.gov/condition/phenylketonuria</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><a href="http://health.nytimes.com/health/guides/disease/phenylketonuria/overview.html">http://health.nytimes.com/health/guides/disease/phenylketonuria/overview.html</a></span></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span><br />
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-bidi-font-family: Arial;"><br /></span></span>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-bidi-font-family: Arial;">Photo from: https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiB0CbaLQJvDdEY3-2fNCIddJsxl0DfHZiNiGYE2B2T5ZitnTwn7nKlzynxGpkqEHYsBiq7wx-tmKPNwS29xoCV0dSZIKMvKAHqfhQ-0Qf76JuIKt3L-veewnz2V9qxLmXu-lHEXB8ubWY/s400/images+(3).jpg</span></span></div>
</div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-67006421785043081272013-03-12T01:49:00.007-07:002013-03-15T10:11:43.472-07:00DUCHENNE MUSCULAR DYSTROPHY<br />
<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><b><br /></b></span></span>
<br />
<div class="separator" style="clear: both; text-align: center;">
<a href="http://www.loyarburok.com/wp-content/uploads/2011/05/Duchenne.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="http://www.loyarburok.com/wp-content/uploads/2011/05/Duchenne.jpg" /></a></div>
<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><b><br /></b></span></span>
<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span>
<br />
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;">Duchenne muscular dystrophy (DMD) is a rapidly progressive
form of muscular dystrophy that occurs primarily in boys.</span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"> • It is
caused by an alteration (mutation) in a gene, called the DMD gene that can be </span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"> inherited in families in an X-linked recessive fashion, but it often occurs in
people from </span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"> families without a known family history of the condition</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<span style="font-family: Arial, Helvetica, sans-serif; font-size: 11pt;"> • Individuals who have DMD have progressive loss of muscle function and weakness,
which </span></div>
<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"> begins in the lower limbs. The DMD gene is the second largest gene to
date, which encodes </span></span><br />
<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"> the muscle protein, dystrophin.</span></span><br />
<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span>
<br />
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency</b>: 1/3500
Male births<o:p></o:p></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span style="font-size: 15px;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Phenotype/ Characteristics</b>:</span></span></div>
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEipgwK6ctNeTnOeaP6BQbMWKLvEXpg9LH56jH5P8ptfuP08GzM9zBqvXPH168QTO_ubFaaJDl8iXeXet6M42HSAQDK_Sir4tJyQGrylrN0AdfR7aVxqRsnU9VgFZNKIKObE5yDNyStZwnc/s1600/duchenne.gif" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEipgwK6ctNeTnOeaP6BQbMWKLvEXpg9LH56jH5P8ptfuP08GzM9zBqvXPH168QTO_ubFaaJDl8iXeXet6M42HSAQDK_Sir4tJyQGrylrN0AdfR7aVxqRsnU9VgFZNKIKObE5yDNyStZwnc/s400/duchenne.gif" width="293" /></span></a></div>
<div class="separator" style="clear: both; text-align: center;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="separator" style="clear: both; text-align: center;">
<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;">Duchenne muscular dystrophy is inherited in an
X-linked recessive pattern. Males have only one copy of the X chromosome from
their mother and one copy of the Y chromosome from their father. If their X
chromosome has a DMD gene mutation, they will have Duchenne muscular dystrophy.
Females, on the other hand, have two copies of the X chromosomes. Since females
have two copies of this gene, if one copy does not work, they have a second
back up copy to produce the dystrophin protein.</span></span></div>
<div class="separator" style="clear: both; text-align: center;">
<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="separator" style="clear: both; text-align: center;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="separator" style="clear: both; text-align: center;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="separator" style="clear: both; text-align: left;">
<b><span style="font-family: Arial, Helvetica, sans-serif;">Understanding the inheritance of DMD!</span></b></div>
<div class="separator" style="clear: both; text-align: left;">
<b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></b></div>
<div class="separator" style="clear: both; text-align: left;">
<b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></b></div>
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiolPlWzfaukruqRDGvTlTtLpEFMTLt3XIgDVPBfn_xq3zhQoYZfNzII63Y0uwlBKmUtjrcrp5fS4GcCbLf_IDT5rJ7BumcYIMVP1FDaQh6bOn9SdbNWw186fJaZax08AsEJkRq0mcrOag/s1600/d.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="242" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiolPlWzfaukruqRDGvTlTtLpEFMTLt3XIgDVPBfn_xq3zhQoYZfNzII63Y0uwlBKmUtjrcrp5fS4GcCbLf_IDT5rJ7BumcYIMVP1FDaQh6bOn9SdbNWw186fJaZax08AsEJkRq0mcrOag/s320/d.jpg" width="320" /></span></a></div>
<div class="separator" style="clear: both; text-align: left;">
<b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></b></div>
<div class="separator" style="clear: both; text-align: left;">
<b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></b></div>
<div class="separator" style="clear: both; text-align: left;">
<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;">Each son of a female carrier has a 50% chance of
inheriting DMD through his mother’s faulty X chromosome and each daughter has a
50% chance of being a carrier of the disorder in the same way. Soon after the
diagnosis of DMD it is essential that genetic counselling is arranged, together
with appropriate tests for those members of the family who are at risk of being
carriers. Genetic counselling provides information on the inheritance pattern,
risks to other family members, and the ‘prognosis’ (likely outcome of the
disorder). This service also provides information about diagnostic testing,
including prenatal testing, as well as carrier testing.</span></span></div>
<div class="separator" style="clear: both; text-align: left;">
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<span style="font-size: 11pt;"><b><span style="font-family: Arial, Helvetica, sans-serif;">What are the symptoms of Duchenne muscular
dystrophy?</span></b></span></div>
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<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="font-size: 11px; line-height: 16.328125px;">> </span> </span><span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;">First noticeable symptom is delay of motor
milestones, including sitting and standing </span></div>
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<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;"> independently.</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">> The mean age for walking in boys with Duchenne
muscular dystrophy is 18 months.<o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">> There
is progressive muscle weakness of the legs and pelvic muscles, which is
associated </span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"> with a loss of muscle mass (wasting).</span></span><br />
<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 16.328125px;">> </span> </span><span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;">Calf muscles initially enlarge and the
enlarged muscle tissue is eventually replaced with fat </span><br />
<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;"> and connective tissue
(pseudohypertrophy).</span><br />
<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 16.328125px;">> </span> </span><span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;">Symptoms usually appear in boys aged 1 to 6.
There is a steady decline in muscle strength </span><br />
<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;"> between the ages of 6 and 11
years. By age 10, braces may be required for walking, and by</span><br />
<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;"> age 12, most boys
are confined to a wheelchair. Bones develop abnormally, causing </span><br />
<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;"> skeletal
deformities of the spine and other areas.</span><br />
<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 16.328125px;">> </span> </span><span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;">Muscular weakness and skeletal deformities
frequently contribute to breathing disorders</span><br />
<span style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;">> Cardiomyopathy (enlarged heart) occurs in
almost all cases, beginning in the early teens in </span><br />
<span style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;"> some, and in all after the
age of 18 years.</span><br />
<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 16.328125px;">> </span></span><span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;">Intellectual impairment may occur, but it is
not inevitable and does not worsen as the disorder </span><br />
<span lang="FIL-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 12.25pt; text-indent: -0.25in;"> progresses.</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">> Few individuals with
DMD live beyond their 30s. Breathing complications and </span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"> cardiomyopathy are
common causes of death</span><br />
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<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis:</b></span></span></div>
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<div style="line-height: 12.25pt; margin-left: .5in; mso-list: l0 level1 lfo1; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><span style="font-size: 11pt;">Ø</span><span style="line-height: normal;"><span style="font-size: 7pt;"> </span> </span></span><!--[endif]--><span lang="FIL-PH">A clinical diagnosis may be
made when a boy has progressive symmetrical muscle weakness. <o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH">The symptoms present before
age 5 years, and they often have extremely elevated creatine kinase blood
levels (which are described below) .<o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH"> If untreated, the affected boys become
wheelchair dependent before age 13 years.<o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH">A muscle biopsy (taking a
sample of muscle) for dystrophin studies can be done to look for abnormal
levels of dystrophin in the muscle. <o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH">Genetic testing (looking at
the body's genetic instructions) on a blood sample for changes in the DMD gene
can help establish the diagnosis of Duchenne muscular dystrophy without
performing a muscle biopsy. <o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH">For the remaining
individuals, a combination of clinical findings, family history, blood creatine
kinase concentration and muscle biopsy with dystrophin studies confirms the
diagnosis.</span><span lang="FIL-PH" style="font-size: 11pt;"> <o:p></o:p></span></span></div>
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<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment:</b></span></span><br />
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH">Treatment for Duchenne
muscular dystrophy is aimed at the symptoms. <o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH">Aggressive management of
dilated cardiomyopathy with anti-congestive medications is used, including
cardiac transplantation in severe cases. <o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH">Assistive devices for
respiratory complications may be needed, especially at night. <o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH">The medication prednisone —
a steroid — is given to improve the strength and function of individuals with
DMD. Prednisone has been shown to prolong the ability to walk by 2 to 5 years.
However, the possible side effects of prednisone include weight gain, high
blood pressure, behavior changes, and delayed growth.<o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
<div style="line-height: 12.25pt; margin-left: .5in; mso-list: l0 level1 lfo1; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH"> A synthetic form of prednisilone, called
Deflazacort, is used in Europe and believed to have fewer side effects than
prednisone.<o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
<div style="line-height: 12.25pt; margin-left: .5in; mso-list: l0 level1 lfo1; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH"> A medication called cyclosporine has been used
and has improved clinical function in children, but its use is controversial
due to cyclosporine-induced myopathy. <o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Ø<span style="line-height: normal;"> </span></span><!--[endif]--><span lang="FIL-PH">Oxandrolone, a medication
used in a research study, has similar effects to prednisone with fewer side
effects. </span></span></div>
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<span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Recommendations/advices:</b></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span class="paracontent"><span lang="FIL-PH" style="font-size: 11pt;">--></span><span lang="FIL-PH"> Communication is a key word in the
coping process. If parents can speak openly and honestly with each other,
sharing concerns and discussing ways to meet challenges, the whole family will
benefit. <o:p></o:p></span></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span class="paracontent"><span lang="FIL-PH"><br /></span></span></span></div>
<div style="margin-left: .5in; mso-list: l0 level1 lfo1; text-align: justify; text-indent: -.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><span style="line-height: normal;">--> </span><span style="line-height: normal;"> </span></span><!--[endif]--><span class="paracontent"><span lang="FIL-PH">Be open and approachable. Encourage him
to discuss his needs, to learn to ask others for assistance when he needs it
and to politely refuse when he can manage independently.</span></span><span lang="FIL-PH"><o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span class="paracontent"><span lang="FIL-PH"><br /></span></span></span></div>
<div style="margin-left: .5in; mso-list: l0 level1 lfo1; text-align: justify; text-indent: -.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span class="paracontent"><span lang="FIL-PH"><span style="line-height: normal;">--> </span><span style="line-height: normal;"> </span></span></span><!--[endif]--><span class="paracontent"><span lang="FIL-PH">A healthy diet, with restriction on
foods containing high levels of fat and sugar, and including plenty of fluids,
fruit and vegetables can be encouraged.<o:p></o:p></span></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span class="paracontent"><span lang="FIL-PH"><br /></span></span></span></div>
<div style="margin-left: .5in; mso-list: l0 level1 lfo1; text-align: justify; text-indent: -.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span class="paracontent"><span lang="FIL-PH">--> Encourage special interests, physical
exercise such as swimming, according to his mobility, and relationships with
peers.<o:p></o:p></span></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span class="paracontent"><span lang="FIL-PH"><br /></span></span></span></div>
<div style="margin-left: .5in; mso-list: l0 level1 lfo1; text-align: justify; text-indent: -.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><span style="line-height: normal;">--> </span><span style="line-height: normal;"> </span></span><!--[endif]--><span class="paracontent"><span lang="FIL-PH">Always remember that </span></span><span lang="FIL-PH">he needs support, love, a warm and
caring family environment and not least, the encouragement to live life as
fully as possible with his friends and family.<o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
<div style="margin-left: .5in; mso-list: l0 level1 lfo1; text-align: justify; text-indent: -.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span class="paracontent"><span lang="FIL-PH">--> Rather than leaving the majority of the
additional responsibilities to one family member, it is advisable to involve
all family members as much as possible. <o:p></o:p></span></span></span><br />
<span class="paracontent"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span>
<span class="paracontent"><span style="font-family: Arial, Helvetica, sans-serif;"> --> Creating new friendships with other DMD families
(or families living with other disabilities) can </span></span><span style="font-family: Arial, Helvetica, sans-serif;">be rewarding for all concerned</span></div>
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<span class="paracontent"><span style="font-family: Arial, Helvetica, sans-serif;"><b><br /></b></span></span></div>
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<span class="paracontent"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b></span></span></div>
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<span class="paracontent"><span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></span></div>
<div style="line-height: 12.25pt; margin-left: .5in; mso-list: l0 level1 lfo1; text-indent: -.25in;">
<span class="paracontent"><span style="font-family: Arial, Helvetica, sans-serif;"><span style="font-size: 11pt;">Learning About Duchenne Muscular Dystrophy
(2010). Retrieved on March 12, 2013 from </span><span style="font-size: 11pt;">http://www.genome.gov/19518854</span></span></span></div>
<div style="line-height: 12.25pt; margin-left: .5in; mso-list: l0 level1 lfo1; text-indent: -.25in;">
<span class="paracontent"><span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="font-size: 15px;">Duchenne Muscular Dystrophy (2011). Retrieved on March 12, 2013 from http://www.umm.edu/ency/article/000705.htm</span></span></div>
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<span class="paracontent"><span style="font-size: 11pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="font-size: 14.545454025268555px;"><b>Photos from:</b></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="font-size: 14.545454025268555px;">http://www.loyarburok.com/wp-content/uploads/2011/05/Duchenne.jpg</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="font-size: 14.545454025268555px;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEipgwK6ctNeTnOeaP6BQbMWKLvEXpg9LH56jH5P8ptfuP08GzM9zBqvXPH168QTO_ubFaaJDl8iXeXet6M42HSAQDK_Sir4tJyQGrylrN0AdfR7aVxqRsnU9VgFZNKIKObE5yDNyStZwnc/s400/duchenne.gif</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="font-size: 14.545454025268555px;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiolPlWzfaukruqRDGvTlTtLpEFMTLt3XIgDVPBfn_xq3zhQoYZfNzII63Y0uwlBKmUtjrcrp5fS4GcCbLf_IDT5rJ7BumcYIMVP1FDaQh6bOn9SdbNWw186fJaZax08AsEJkRq0mcrOag/s320/d.jpg</span></span><br />
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Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com1tag:blogger.com,1999:blog-954453551672198011.post-58436845014682907692013-03-12T01:38:00.002-07:002013-03-15T10:12:58.721-07:00Jacob's Syndrome<h2>
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgu4mE8uo91XW7warqrPRNQtxwMH8MAYxTMyN3biOm3f7D3FW7XVU5eFG8JoTCI-FgPtdWm2kCzqNz4rcUDcyVsiHRUH_ycywbd9IMgMRcVRSkMlMoPZH1kbGqeByk_ecfkhExdECG3-3k/s1600/xyykaryotype.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgu4mE8uo91XW7warqrPRNQtxwMH8MAYxTMyN3biOm3f7D3FW7XVU5eFG8JoTCI-FgPtdWm2kCzqNz4rcUDcyVsiHRUH_ycywbd9IMgMRcVRSkMlMoPZH1kbGqeByk_ecfkhExdECG3-3k/s320/xyykaryotype.jpg" width="299" /></span></a></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Characteristics/Phenotype</b></span></div>
<div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><i><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;">Jacobs
syndrome</span></i><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"> is
a rare chromosomal disorder that affects only males. It is a
condition where there is the presence of an extra Y chromosome in all of a
male's cells. Males normally have only one X and one Y chromosome,
however, individuals with Jacob's syndrome have at least one X and at least two
Y chromosomes (XYY). It gives males a total of 47 chromosomes, instead of the
average of 46.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Other names for Jacobs
syndrome:<o:p></o:p></span></span></div>
<ul style="margin-top: 0in;" type="disc">
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">47, XYY syndrome<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">XYY Karyotype<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">XYY syndrome<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">YY syndrome<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Diplo-Y Syndrome<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Polysomy Y<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; tab-stops: list .5in;"><span style="font-family: Arial, Helvetica, sans-serif;"><i><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;">Super-male</span></i><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"> syndrome<o:p></o:p></span></span></li>
</ul>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">This condition is usually
asymptomatic which means that it shows no evidence of disease.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">In children, 47,XYY may
produce some of the following symptoms:<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Delay in developing
speech<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Low muscle tone
(hypotonia) <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Delayed social
development<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Learning disabilities<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Pervasive developmental
disorder (PDD-NOS) or mild autism spectrum disorder<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Attention deficit
and/or hyperactivity<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">In older teens and
adults, 47,XXY may also be characterized by:<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Very tall stature and
long limbs<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Severe acne<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Continued learning
and/or social difficulties <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Delay in vocational
success<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Anxiety, depression or
other mood disorder<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Impulsivity<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Dental problems</span></span></div>
</div>
<div>
<span lang="EN-US" style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-ansi-language: EN-US; mso-ascii-theme-font: minor-latin; mso-bidi-font-family: Arial; mso-bidi-language: AR-SA; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH; mso-hansi-theme-font: minor-latin;"><br /></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency</b></span></div>
<div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">This condition occurs in about 1 in 1,000 newborn
boys. Five to 10 boys with 47,XYY syndrome are born in the United States each
day.</span></span></div>
<div>
<span lang="EN-US" style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-ansi-language: EN-US; mso-ascii-theme-font: minor-latin; mso-bidi-font-family: Arial; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin; mso-hansi-theme-font: minor-latin;"><br /></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis</b></span></div>
<div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Diagnosis requires
a specialized blood test, called a karyotype or a
buccal swab test called</span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">XCAT. In some
cases, FISH (fluorescence in situ hybridization), or microarray analysis is
performed.<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Prenatal diagnosis
requires amniocentesis or chorionic villus sampling, or a <span style="background-color: transparent;">noninvasive
prenatal test called NIPT.</span></span></div>
</div>
<div>
<span lang="EN-US" style="font-family: Arial, Helvetica, sans-serif; font-size: 11.0pt; mso-ansi-language: EN-US; mso-ascii-theme-font: minor-latin; mso-bidi-font-family: Arial; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin; mso-hansi-theme-font: minor-latin;"><br /></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Cause/s</b></span></div>
<div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Most cases of 47,XYY syndrome are not inherited. The chromosomal change
usually occurs as a random event during the formation of sperm cells. An error
in cell division called nondisjunction can result in sperm cells with an extra
copy of the Y chromosome. If one of these atypical reproductive cells
contributes to the genetic makeup of a child, the child will have an extra Y
chromosome in each of the body's cells.<o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">46,XY/47,XYY mosaicism is also not inherited. It occurs as a random
event during cell division in early embryonic development. As a result, some of
an affected person's cells have one X chromosome and one Y chromosome (46,XY),
and other cells have one X chromosome and two Y chromosomes (47,XYY).<o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; mso-ascii-theme-font: minor-latin; mso-bidi-font-family: Arial; mso-hansi-theme-font: minor-latin;"><br /></span></div>
</div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatments</b></span></div>
<div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Most symptoms can be addressed successfully by
early diagnosis and detection, appropriate treatments such as speech and
occupational therapy, and special education services, if learning disabilities
are involved. Infants and very young children may be eligible for early
intervention. Children can benefit from special<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">education services including;<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Speech therapy<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Occupational and physical therapy when indicated
for motor problems<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Special education services or educational
accommodations when necessary<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Social skills training programs<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Family or individual counseling<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Behavioral consultation<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Regular exercise and upper body strengthening
programs<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Adolescents with 47,XYY, may develop severe acne.
If so, they should be seen by a dermatologist and treated appropriately to
prevent scarring. Adults with 47,XYY, may take several years longer to </span></span><span style="font-family: Arial, Helvetica, sans-serif;">develop the emotional maturity to become
self-supporting and capable of living independently. Interventions that may be
helpful for adults with XYY </span><span style="font-family: Arial, Helvetica, sans-serif;">include:</span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Psychological counseling when indicated<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Vocational counseling and workplace
accommodations when necessary<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• Dental health preservation/restoration<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">• A healthy diet and regular exercise to maintain
cardiovascular health<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><br /></span></div>
</div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Recommendations/Advices</b></span></div>
<div>
<div class="MsoNormal" style="text-align: justify;">
<span lang="EN-US" style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-bidi-font-family: Arial;">As a parent, tell your
child. . .<o:p></o:p></span></div>
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh89ntCYan13TgnSO6ZMyngIQDX8HtfGq_PJWaQ2-K-RYxFFYtkpC4uUM5pceDsXMSXxj_cyqZs3zeO1kxdblTQG95DMioAAWKDXEppRA4vqKvgq4hnUWBc4ARbjNuQusfZ545nHabx6oc/s1600/Untitled.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="267" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh89ntCYan13TgnSO6ZMyngIQDX8HtfGq_PJWaQ2-K-RYxFFYtkpC4uUM5pceDsXMSXxj_cyqZs3zeO1kxdblTQG95DMioAAWKDXEppRA4vqKvgq4hnUWBc4ARbjNuQusfZ545nHabx6oc/s400/Untitled.jpg" width="400" /></span></a></div>
<div class="MsoNormal" style="text-align: justify;">
<span lang="EN-US" style="font-family: Arial, Helvetica, sans-serif; font-size: 12.0pt; mso-bidi-font-family: Arial;"><br /></span></div>
</div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>References</b></span></div>
<div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://testwebcite.webs.com/"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://testwebcite.webs.com/</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://www.genetic.org/Portals/0/Public/Brochures/KS&A%20brochure%20green%20xYY%20WEB.pdf"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://www.genetic.org/Portals/0/Public/Brochures/KS&A%20brochure%20green%20xYY%20WEB.pdf</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://ghr.nlm.nih.gov/condition/47xyy-syndrome"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://ghr.nlm.nih.gov/condition/47xyy-syndrome</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">http://www.mamashealth.com/syndrome/jacob.asp</span></span><br />
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Photos from:</b></span></span><br />
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEjehaVzLJ74kuJH07jDuTDMsNhBvvb3SnHOdKvKgQoKXgQ71sV5to6Ge0EjCf1ELcU12m5eU70ixxRXspUZAsg-8mUK3_cr4LKPP6kYMy3y393FB960_wf4WZP6fiRVhZlQzzFwhBwNdiA/s400/images+(2).jpg</span></span><br />
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgu4mE8uo91XW7warqrPRNQtxwMH8MAYxTMyN3biOm3f7D3FW7XVU5eFG8JoTCI-FgPtdWm2kCzqNz4rcUDcyVsiHRUH_ycywbd9IMgMRcVRSkMlMoPZH1kbGqeByk_ecfkhExdECG3-3k/s320/xyykaryotype.jpg</span></span><br />
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">http://www.blogger.com/blogger.g?blogID=954453551672198011#editor/target=post;postID=5843684501468290769</span></span><br />
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com1tag:blogger.com,1999:blog-954453551672198011.post-11856293529252096502013-03-12T01:35:00.000-07:002013-03-15T10:14:51.084-07:00PATAU SYNDROME<br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhtMPLrJkmR7i6W39vDSGRbOlBG4AoZdkRi62itDQV3GNIpgjuo2-lC1fSv9cwMq2s7O_5SXjSGHrUdYLhcrjvTSak5FY38IhHDq0ttWC4hQakNSMsgq-5Fu-UE68ydBN3dl2WzoMMQXU4/s1600/pat.gif" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="400" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhtMPLrJkmR7i6W39vDSGRbOlBG4AoZdkRi62itDQV3GNIpgjuo2-lC1fSv9cwMq2s7O_5SXjSGHrUdYLhcrjvTSak5FY38IhHDq0ttWC4hQakNSMsgq-5Fu-UE68ydBN3dl2WzoMMQXU4/s400/pat.gif" width="298" /></a></div>
<b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></b>
<span style="font-family: Arial, Helvetica, sans-serif;"><b><br /></b></span><span style="font-family: Arial, Helvetica, sans-serif;">> Patau syndrome is the least common and most severe of the viable autosomal trisomies.<br /> </span><span style="font-family: Arial, Helvetica, sans-serif;">> Median survival is fewer than 3 day</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">> First identified as a cytogenetic syndrome in 1960, Patau syndrome is caused by an extra </span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"> copy of </span><span style="font-family: Arial, Helvetica, sans-serif;"> chromosome 13, a medium-length acrocentric chromosome. </span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">> The extra copy of chromosome 13 in Patau syndrome causes severe neurological and heart </span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"> defects which </span><span style="font-family: Arial, Helvetica, sans-serif;"> make it difficult for infants to survive. </span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">> Patau syndrome appears to affect females more than males, most likely because male </span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"> fetuses do not </span><span style="font-family: Arial, Helvetica, sans-serif;"> survive until birth.</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">> Patau syndrome, like Down syndrome, is associated with increased age of the mother. It may </span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"> affect </span><span style="font-family: Arial, Helvetica, sans-serif;"> individuals of all ethnic backgrounds.</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span><span style="font-family: Arial, Helvetica, sans-serif;">Frequency of Births: 1/15000</span><br />
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<span style="font-family: Arial, Helvetica, sans-serif;">Characteristics:</span><br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg2WnNkADdVICiUuwBn6q7G4mF2HaFTWdohN9NHczf-fLkuGIzbRqe5ceaN1a8Ou5uSwwTlpKP6CoO_389uygPO0MwO7ZI_h-TpzbC9cBlTh2IQdlAvxfAl5ce2nNZKMHa7oNBcPZr8-Sw/s1600/patau.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg2WnNkADdVICiUuwBn6q7G4mF2HaFTWdohN9NHczf-fLkuGIzbRqe5ceaN1a8Ou5uSwwTlpKP6CoO_389uygPO0MwO7ZI_h-TpzbC9cBlTh2IQdlAvxfAl5ce2nNZKMHa7oNBcPZr8-Sw/s320/patau.jpg" width="252" /></a></div>
<b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span><span style="font-family: Arial, Helvetica, sans-serif;">Causes:</span></b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span><span style="font-family: Arial, Helvetica, sans-serif;">> The cause of the trisomy in Patau and Down syndromes is similar. A phenomenon called nondisjunction is responsible for most cases of trisomy 13 and 21. </span><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span><span style="font-family: Arial, Helvetica, sans-serif;">> Rather than splitting evenly, cells that have undergone nondisjunction typically split unevently into two cells; one cell receives one extra copy of a chromosome, while the other is deficient in the chromosome.<br /> </span><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span><span style="font-family: Arial, Helvetica, sans-serif;">> A major risk factor for nondisjunction is advanced maternal age. The chance of nondisjunction increases significantly once mothers are 35 years old and greater. As you'd expect, the risk of Patau and Down syndromes increases considerably with advanced maternal age.</span><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span><span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis: </b></span><br />
<b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></b><span style="font-family: Arial, Helvetica, sans-serif;">The symptoms of Patau
syndrome are evident at birth. Infants with Patau syndrome may present with a
single umbilical artery at birth. Many times there are signs of congenital
heart disease, such as atrial septal defect, abnormal placement of their heart
towards the ride side of their chest, ventricular septal defect, or patent
ductus arteriosus. Ultrasound or gastrointestinal X-rays might display rotation
of the infant's internal organs.
</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">Imaging studies such as
computed tomography (CT) or magnetic resonance imaging (MRI) should be done to
look for brain, heart, and kidney defects. An ultrasound of the heart
(echocardiogram) should be done given the high frequency of heart defects
associated with Patau syndrome. </span><b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></b><b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></b><b><span style="font-family: Arial, Helvetica, sans-serif;">Treatment</span></b><span style="font-family: Arial, Helvetica, sans-serif;"><b><br /></b></span><br />
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<span style="font-family: Arial, Helvetica, sans-serif;">Some infants born with Patau syndrome have severe and
incurable birth defects. However, children with better prognoses require
medical treatment to correct structural abnormalities and associated
complications. Treatment of children with Patau syndrome involves planning on a
case-by-case basis. The forms of treatment a particular person receives is
dependent upon the person's particular condition. Intervention through surgical
means are commonly withheld for the first few months of the person's life due
to the high mortality rate of children with Patau syndrome.</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><b>Prognosis:</b></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;">Approximately 45% of trisomy 13 babies die within their
first month of life; up to 70% in the first six months; and over 70% by one
year of age. Survival to adulthood is very rare. Only one adult is known to
have survived to age 33.<o:p></o:p></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;">Most survivors have profound mental and physical
disabilities; however, the capacity for learning in children with Patau
syndrome varies from case to case. Older children may be able to walk with or
without a walker. They may also be able to understand words and phrases, follow
simple commands, use a few words or signs, and recognize and interact with
others.<o:p></o:p></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><o:p></o:p></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;">Most survivors have profound mental and physical
disabilities; however, the capacity for learning in children with Patau
syndrome varies from case to case. Older children may be able to walk with or
without a walker. They may also be able to understand words and phrases, follow
simple commands, use a few words or signs, and recognize and interact with
others. <o:p></o:p></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial;">Best, R., Buehler, B. (2012). Patau
Syndrome. Retrieved on March 12, 2013 from </span><span style="color: black; mso-themecolor: text1;"><i>http://emedicine.medscape.com/article/947706-overview.</i></span><o:p></o:p></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="color: black; mso-themecolor: text1;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FR">Kugler, M.
(2005). Patau Syndrome (Trisomy 13). </span>Retrieved on March 12, 2013 from <i><span style="color: black; mso-themecolor: text1;">http://rarediseases.about.com/od/rarediseasesp/a/patau05.htm.</span><span style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><o:p></o:p></span></i></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><i><span style="color: black; mso-themecolor: text1;"><br /></span></i></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="color: black; mso-themecolor: text1;"><b>Photos from:</b></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="color: black; mso-themecolor: text1;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhtMPLrJkmR7i6W39vDSGRbOlBG4AoZdkRi62itDQV3GNIpgjuo2-lC1fSv9cwMq2s7O_5SXjSGHrUdYLhcrjvTSak5FY38IhHDq0ttWC4hQakNSMsgq-5Fu-UE68ydBN3dl2WzoMMQXU4/s400/pat.gif</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="color: black; mso-themecolor: text1;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEg2WnNkADdVICiUuwBn6q7G4mF2HaFTWdohN9NHczf-fLkuGIzbRqe5ceaN1a8Ou5uSwwTlpKP6CoO_389uygPO0MwO7ZI_h-TpzbC9cBlTh2IQdlAvxfAl5ce2nNZKMHa7oNBcPZr8-Sw/s320/patau.jpg</span></span></div>
<br /></div>
</div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-17563513627922622692013-03-12T01:28:00.001-07:002013-03-15T10:14:23.697-07:00ANGELMAN SYNDROME<br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Overview: </b></span><span lang="EN-PH" style="background-color: white;">Angelman syndrome</span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">is a neuro-</span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">genetic disorder</span>,
caused by genomic imprinting. </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">The deletion or inactivation of genes on the maternally
inherited<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">chromosome 15</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">while the paternal copy, which may be of normal
sequence, is imprinted and therefore silenced causes the condition. It is the
sister syndrome of Prader-Willi syndrome.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<div class="separator" style="clear: both; text-align: center;">
<a href="http://www.angelman.org/_angelman/cache/file/29CCDE00-6C72-4EC0-BFCCF69C7E2EC9B7.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="106" src="http://www.angelman.org/_angelman/cache/file/29CCDE00-6C72-4EC0-BFCCF69C7E2EC9B7.jpg" width="320" /></a></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Phenotype/Characteristics: </b></span></span><span style="font-family: Arial, Helvetica, sans-serif;">A patient with Angelman syndrome will have
the following signs and symptoms:</span></div>
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<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>a
severe delay in development from 6-12 months</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>speech
problems (most children do not speak or only say a few words)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>movement
or balance problems – usually </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><a href="http://www.nhs.uk/conditions/ataxia/Pages/Introduction.aspx"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH;">ataxia</span></a></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> (loss of co-ordination) and jerky movements
of the limbs</span></li>
</ul>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">A child with Angelman syndrome will also
display distinctive behaviours, these may include:<o:p></o:p></span></span></div>
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<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>frequent
laughter and smiling, with little stimulus</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>being
easily excitable, often flapping the hands</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>being
restless</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>having
a short attention span</span></li>
</ul>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Many children with Angelman syndrome will
have microcephaly by the age of two, and many will develop seizures around this
age.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Some children with Angelman syndrome will
also have the following features and behaviours:<o:p></o:p></span></span></div>
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<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>a
flattened skull at the back</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>a
tendency to stick out the tongue</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>feeding
problems during infancy</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>a
prominent chin</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>a wide
mouth and wide-spaced teeth</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> frequent
drooling</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>excessive
chewing</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>strabismus</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>pale
skin and light hair and eye colour</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>uplifted
bent arms, especially during walking</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>increased
sensitivity to heat</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>disturbed
sleep, and needing less sleep than usual</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>attraction
to, or fascination with, water</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH;"><span style="line-height: 18.18181800842285px;"> </span>scoliosis</span></span></li>
<li><br /></li>
</ul>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency:</b> <span style="background: white;">Angelman
syndrome affects an estimated 1 in 12,000 to 20,000 people.</span><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Diagnosis: </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">A deletion or inactivity on
chromosome 15 by array comparative genomic hybridization (aCGH) or by
BACs-on-Beads technology can be a diagnostic method. FISH-metaphase or
interphase, sequence analysis of the coding region and the like may also be
used. Prenatal diagnosis is also feasible. <o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;"><b>Causes: </b> The condition is caused by the malfunction of
the UBE3A gene on chromosome number 15. Normally, both parental copies of the
gene are active in the body’s tissues. </span><span lang="EN-PH" style="line-height: 115%;">In certain areas of the brain, only the gene inherited from the mother
is active. </span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 115%;">If the maternal copy of the<span class="apple-converted-space"> </span><span class="genesymbol"><i>UBE3A</i></span><span class="apple-converted-space"> </span>gene is lost because of a chromosomal
change or a gene mutation, a person will have no active copies of the gene in
some parts of the brain.</span><span lang="EN-PH" style="line-height: 115%;"><o:p></o:p></span></span></div>
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<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">In most cases of Angelman syndrome, the child's maternal copy of the
UBE3A gene is not functioning normally or is missing altogether. <o:p></o:p></span></span></div>
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<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Several different genetic mechanisms can
inactivate or delete the maternal copy of the<span class="apple-converted-space"> </span><span class="genesymbol"><i>UBE3A</i></span><span class="apple-converted-space"> </span>gene.
Most cases of Angelman syndrome (about 70 percent) occur when a segment of the
maternal chromosome 15 containing this gene is deleted. In other cases (about
11 percent), Angelman syndrome is caused by a mutation in the maternal copy of
the<span class="apple-converted-space"> </span><span class="genesymbol"><i>UBE3A</i></span><span class="apple-converted-space"> </span>gene.<o:p></o:p></span></span></div>
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<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">In a small percentage of cases, Angelman
syndrome results when a person inherits two copies of chromosome 15 from his or
her father (paternal copies) instead of one copy from each parent (paternal
uniparental disomy). Rarely, Angelman syndrome can also be caused by a
chromosomal rearrangement called a translocation, or by a mutation or other
defect in the region of DNA that controls activation of the<span class="apple-converted-space"> </span><span class="genesymbol"><i>UBE3A</i></span><span class="apple-converted-space"> </span>gene. These genetic changes can
abnormally turn off (inactivate) <span class="genesymbol"><i>UBE3A</i></span><span class="apple-converted-space"> </span>or other genes on the maternal copy of
chromosome 15.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies: </b></span></span><span style="font-family: Arial, Helvetica, sans-serif;">There is no cure for Angelman syndrome and
some of the symptoms can be difficult to manage.</span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">The following treatments and aids may augment
the effects of the condition to a certain extent:<o:p></o:p></span></span></div>
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<ul>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Anti-epileptic
medicine to control the seizures –</span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><a href="http://www.nhs.uk/medicine-guides/pages/MedicineOverview.aspx?condition=Epilepsy&medicine=sodium%20valproate&preparation=Sodium%20valproate%20250mg%20modified-release%20granules%20sachets%20sugar%20free"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH;">sodium valproate</span></a></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">, clonazepam and ethosuccimide are some of
the drugs in common use.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Physiotherapy,
attention to their sitting posture, a back brace and possibly spinal
surgery to prevent their spine from curving further (preventing scoliosis). </span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>A
feeding tube and other feeding aids, especially in infancy. In older children,
weight gain may be a problem.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Occupational
therapy to help them develop skills needed for dressing, feeding and other
daily living activities.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>An
ankle foot orthosis (lower leg brace) to help them walk independently.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Picture
boards, eye gaze technology and other visual aids to help them communicate.</span></li>
</ul>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Therapeutic horseriding, swimming,
hydrotherapy and music therapy have been reported to be beneficial. <o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Additional Fact: </b></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">In the 2011 Philippine
drama series<span class="apple-converted-space"> </span><i>Budoy</i>, the
titular character and main protagonist Budoy Maniego (played by Filipino actor<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">Gerald Anderson</span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">) is diagnosed
with Angelman Syndrome.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups:</b><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Angelman syndrome foundation<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">http://www.angelman.org/<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<h1 style="margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span style="font-weight: normal;"><span lang="EN-PH" style="color: windowtext; line-height: 115%;">NHS. (2012). </span><span lang="EN-PH" style="color: windowtext; line-height: 115%;">Angelman syndrome. NHS. Retrieved March 12, 2013 from
the URL: </span><span lang="EN-PH"><a href="http://www.nhs.uk/conditions/angelman-syndrome/Pages/Introduction.aspx"><span style="color: windowtext; line-height: 115%;">http://www.nhs.uk/conditions/angelman-syndrome/Pages/Introduction.aspx</span></a></span></span><span lang="EN-PH" style="color: windowtext; line-height: 115%;"><o:p></o:p></span></span></h1>
<h1 style="margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span style="font-weight: normal;"><span lang="EN-PH" style="color: windowtext; line-height: 115%;">Genetics
Home reference (2012). Angelman Syndrome. Retrieved March 12, 2013 from the
URL: </span><span lang="EN-PH"><a href="http://ghr.nlm.nih.gov/condition/angelman-syndrome"><span style="color: windowtext; line-height: 115%;">http://ghr.nlm.nih.gov/condition/angelman-syndrome</span></a></span></span><span lang="EN-PH" style="color: windowtext; line-height: 115%;"><o:p></o:p></span></span></h1>
<h1 style="margin-top: 0in;">
<span lang="EN-PH" style="color: windowtext; line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"> Photo from:</span><span style="font-family: Calibri, sans-serif; font-size: 11pt;"><o:p></o:p></span></span></h1>
<div>
<span lang="EN-PH" style="color: windowtext; line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif; font-size: small;">http://www.angelman.org/_angelman/cache/file/29CCDE00-6C72-4EC0-BFCCF69C7E2EC9B7.jpg</span></span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-60062202425698363132013-03-12T01:20:00.009-07:002013-03-15T10:15:45.797-07:00PRADER WILLI SYNDROME<br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Overview:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Prader-Willi syndrome (PWS)
is a disorder caused by a deletion or disruption of genes in the proximal arm
of chromosome 15 or by maternal disomy in the proximal arm of chromosome 15.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="http://schoolworkhelper.net/wp-content/uploads/2011/06/Prader-Willi-Syndrome-2.gif" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="http://schoolworkhelper.net/wp-content/uploads/2011/06/Prader-Willi-Syndrome-2.gif" width="274" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Patient with Prader Willi Syndrome</td></tr>
</tbody></table>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Phenotype/Characteristics and Diagnosis: </b><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">A diagnostic
criteria for Prader-Willi syndrome was made by Holm et al. Based on these
guidelines, the diagnosis of Prader-Willi syndrome is highly likely in children
younger than 3 years with 5 points (3 from major criteria) or in those older
than 3 years with 8 points (4 from major criteria).<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Major
criteria (1 point each)<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">CNS -
Infantile central hypotonia<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">GI -
Infantile feeding problems and/or </span><span lang="EN-PH"><a href="http://emedicine.medscape.com/article/985007-overview" target="_self"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">failure to thrive</span></a></span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Nutrition
- Rapid weight gain in children aged 1-6 years<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Craniofacial
- Characteristic facial features such as narrow bifrontal diameter,
almond-shaped palpebral fissures, narrow nasal bridge, and down-turned mouth<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Endocrine
- Hypogonadism<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Developmental
- Developmental delay and/or mental retardation<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Minor
criteria (one half point each)<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Neurologic
- Decreased fetal movement and/or infantile lethargy<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Pulmonary
- Sleep disturbance and/or sleep apnea<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Endocrine
- Short stature for predicted height by mid adolescence<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Dermatologic
- Hypopigmentation<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Orthopedic
- Small hands and feet<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Orthopedic
- Narrow hands with straight ulnar border<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Ophthalmologic
– Esotropia and/or myopia<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Dental
- Thick viscous saliva<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Otolaryngology
- Speech articulation defects<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Psychiatric
- Skin picking (Some patients with Prader-Willi syndrome have become anemic
from chronic rectal bleeding secondary to skin picking.)<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Supportive
criteria (no points)<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Neurology
- High pain threshold and normal neuromuscular evaluation for hypotonia<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 15.0pt; margin-right: 0in; margin-top: 0in; mso-list: l2 level2 lfo1; tab-stops: list 1.0in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Gastroenterology
- Decreased vomiting<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 15.0pt; margin-right: 0in; margin-top: 0in; mso-list: l2 level2 lfo1; tab-stops: list 1.0in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Endocrinology
- Ineffective thermoregulation, early adrenarche, and/or osteoporosis, adrenal
insufficiency<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Orthopedics
– Scoliosis or kyphosis<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">o<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Developmental
- Jigsaw puzzle proficiency<o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Frequency: </b><span style="background: white;">Prader-Willi
syndrome affects an estimated 1 in 10,000 to 30,000 people worldwide. </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Differences in
prevalence rates between sexes have not been reported</span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><b><span style="font-family: Arial, Helvetica, sans-serif;">Diagnosis:</span></b></span></div>
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<span style="background-color: white;"><span style="font-family: Arial, Helvetica, sans-serif;">Genetic testing is
employed for accurate diagnosis of the condition.</span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in; mso-list: l0 level2 lfo3; tab-stops: list 1.0in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;"> </span></span><span lang="EN-PH">Genetic
testing for Prader-Willi syndrome (PWS) includes chromosomal analysis and
assessment for methylation patterns in the Prader-Willi syndrome region.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in; mso-list: l0 level2 lfo3; tab-stops: list 1.0in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;"> </span></span><span lang="EN-PH">Methylation
patterns can be determined with Southern blot hybridization or polymerase chain
reaction (PCR) using DNA primers that can detect methylated cytosine.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in; mso-list: l0 level2 lfo3; tab-stops: list 1.0in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;"> </span></span><span lang="EN-PH">Analysis
for underlying uniparental disomy requires samples from both parents and the
child with Prader-Willi syndrome.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in; mso-list: l0 level2 lfo3; tab-stops: list 1.0in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;"> </span></span><span lang="EN-PH">Fluorescent
in situ hybridization (FISH) can be used to confirm prenatal diagnosis when a
deletion in the 15q region is suspected after chorionic villus sampling or
amniocentesis.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Causes: </b><o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin: 0in; mso-list: l3 level1 lfo2; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;"> </span></span><span lang="EN-PH">Prader-Willi
syndrome is due to the loss of the paternal copy of chromosome 15q11.2-13. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin: 0in; mso-list: l3 level1 lfo2; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;"> </span></span><span lang="EN-PH">Most
cases of Prader-Willi syndrome are sporadic. More than 70% of patients have a
deletion of the paternal copy; approximately 25% of patients with Prader-Willi
syndrome have maternal uniparental disomy in chromosome 15. The remainder of
patients with this disorder have a translocation or other structural alteration
in chromosome 15.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin: 0in; mso-list: l3 level1 lfo2; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;"> </span></span><span lang="EN-PH">Most
manifestations of Prader-Willi syndrome are attributable to hypothalamic
dysfunction.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies:</b><o:p></o:p></span></span></div>
<div class="MsoNormal" style="margin-bottom: .0001pt; margin-bottom: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH;">Patients with Prader-Willi
syndrome (PWS) frequently require medical care for the following:<sup><a href="http://www.blogger.com/blogger.g?blogID=954453551672198011"><span style="color: windowtext; text-decoration: none; text-underline: none;">[37]</span></a></sup></span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Initial
management of hypotonia or poor feeding<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Evaluation
for hypogonadism or hypopituitarism<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in; mso-list: l1 level1 lfo4; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Management
of obesity<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Monitoring
for scoliosis<o:p></o:p></span></span></div>
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<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">·<span style="line-height: normal;">
</span></span><!--[endif]--><span lang="EN-PH">Therapy
for behavioral issues<o:p></o:p></span></span></div>
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<br /></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Patients with Prader-Willi syndrome may require surgical care
for treatment of complications of obesity, treatment of cryptorchidism, and
scoliosis intervention.<span class="apple-converted-space"> <o:p></o:p></span></span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span class="apple-converted-space"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Tonsillectomy, adenoidectomy, or tracheostomy placement may
be required in patients with obstructive sleep apnea.<o:p></o:p></span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Biliopancreatic diversion and gastric bypass surgery have
been ineffective for long-term weight reduction. Patients with Prader-Willi
syndrome have hyperphagia and require restricted access to foods to minimize
weight gain. Binge-eating episodes may predispose patients to development of
food poisoning and acute gastric dilation. Caregivers of patients with
Prader-Willi syndrome should be instructed in the Heimlich maneuver.<o:p></o:p></span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Growth hormone therapy in patients with growth hormone
deficiency improves lean body mass and corrects osteopenia.<o:p></o:p></span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Patients with
Prader-Willi syndrome (PWS) may require inpatient evaluation and treatment for
hypotonia and poor feeding during infancy.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Individuals with
Prader-Willi syndrome and other medical issues, including scoliosis and
complications of obesity or pickwickian syndrome, may require inpatient therapy.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Patients with severe
behavioral problems may merit admission to a facility staffed with individuals
with long-term experience with Prader-Willi syndrome.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups:</b><o:p></o:p></span></span></div>
<h3 style="background: white; line-height: 115%; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH"><a href="https://www.google.com.ph/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&ved=0CCsQFjAA&url=http%3A%2F%2Fwww.pwsausa.org%2Fsupport%2F&ei=k5o-UZepNYrXrQfIqYHgCA&usg=AFQjCNHkjAh7WnWN-EjfNLXzI52gwCrywQ&bvm=bv.43287494,d.bmk&cad=rja"><span style="font-weight: normal;"><em><span style="color: windowtext; font-style: normal; line-height: 115%;">Support</span></em><span class="apple-converted-space"><span style="color: windowtext; line-height: 115%;"> </span></span><span style="line-height: 115%;">-</span><span class="apple-converted-space"><span style="color: windowtext; line-height: 115%;"> </span></span><em><span style="color: windowtext; font-style: normal; line-height: 115%;">Prader</span></em><span style="line-height: 115%;">-</span><em><span style="color: windowtext; font-style: normal; line-height: 115%;">Willi Syndrome</span></em><span class="apple-converted-space"><span style="color: windowtext; line-height: 115%;"> </span></span></span><span style="font-weight: normal; line-height: 115%;">Association</span></a></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;"><o:p></o:p></span></span></h3>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">http://www.pwsausa.org/support/<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<br /></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<h1 style="background: white; margin-top: 0in; vertical-align: baseline;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span style="font-weight: normal;"><span lang="EN-PH" style="color: windowtext; line-height: 115%;">A.D.A.M.Health Solutions, Ebix, Inc.
(2012) </span><span class="Title1"><span lang="EN-PH" style="border: 1pt none windowtext; color: windowtext; line-height: 115%; padding: 0in;">Prader-Willi
syndrome. NCBI. Retrieved March 12, 2013 from the URL: </span></span><span lang="EN-PH"><span style="border: 1pt none windowtext; color: windowtext; line-height: 115%; padding: 0in;"><a href="http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002572/">http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002572/</a></span></span></span></span></h1>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Genetics Home Reference (2011). Prader
Willi Syndrome. Genetics Home reference. Retrieved March 12, 2013 from the URL:
<a href="http://ghr.nlm.nih.gov/condition/prader-willi-syndrome">http://ghr.nlm.nih.gov/condition/prader-willi-syndrome</a><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Scheimann, A. (2012). </span><span class="Title1"><span lang="EN-PH" style="border: none windowtext 1.0pt; mso-bidi-font-family: Arial; mso-border-alt: none windowtext 0in; padding: 0in;">Prader-Willi syndrome. Medscape
Reference. Retrieved March 12, 2013 from the URL: </span></span><span lang="EN-PH"><span style="border: none windowtext 1.0pt; mso-bidi-font-family: Arial; mso-border-alt: none windowtext 0in; padding: 0in;"><a href="http://emedicine.medscape.com/article/947954-overview">http://emedicine.medscape.com/article/947954-overview</a></span></span><span class="Title1"><span lang="EN-PH" style="border: none windowtext 1.0pt; mso-bidi-font-family: Arial; mso-border-alt: none windowtext 0in; padding: 0in;"><o:p></o:p></span></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Photo from:</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">http://schoolworkhelper.net/wp-content/uploads/2011/06/Prader-Willi-Syndrome-2.gif</span></span></div>
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Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-20309561171966630242013-03-12T01:20:00.006-07:002013-03-15T10:16:35.375-07:00Turner's Syndrome<h2>
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><br /></span></h2>
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgbOGxLpB7yrAeTjWHu5TioPgKTcJ8VCjSrK_0IiLl2S5OkoJyggolg3x5F0tzuhtVOOCQ4r4mtTQPY7zLPwsyFCRBluopFpoccE1gHfx8r68p1f0OvCKBExrdzpye-Ugok_0UWiM9H3SQ/s1600/images+(1).jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgbOGxLpB7yrAeTjWHu5TioPgKTcJ8VCjSrK_0IiLl2S5OkoJyggolg3x5F0tzuhtVOOCQ4r4mtTQPY7zLPwsyFCRBluopFpoccE1gHfx8r68p1f0OvCKBExrdzpye-Ugok_0UWiM9H3SQ/s320/images+(1).jpg" width="237" /></span></a><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiV2tLe1GJ2eUP3NNcYb74FpbGb9JzeTB8WKQ5lUvay2NvvVEjHDp-LuU3yynXSAwWFYdQmioFpkqJJY3nVC5OoT4pkw8kjNrM0lG5NJUr9XlmUvcdd25W7GNUfdVBZIL7S4zTh79v5fJ0/s1600/X2604-T-53.png" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiV2tLe1GJ2eUP3NNcYb74FpbGb9JzeTB8WKQ5lUvay2NvvVEjHDp-LuU3yynXSAwWFYdQmioFpkqJJY3nVC5OoT4pkw8kjNrM0lG5NJUr9XlmUvcdd25W7GNUfdVBZIL7S4zTh79v5fJ0/s320/X2604-T-53.png" width="224" /></span></a></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><br />
<b>Characteristics/Phenotypes</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Turner's syndrome is a genetic disorder that
affects females. Usually, a female has two X chromosomes; in females with
Turner's syndrome, one of these chromosomes is missing or abnormal. Other
names for Turner's syndrome include monosomy X, 45X and Ullrich-Turner
syndrome.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;">The
characteristic of the disease is mainly </span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;">depending on the age of the
girl or woman affected.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;"> Babies born with Turner syndrome often
have swollen hands and feet caused by lymphoedema. Prominent thick neck tissue,
swelling of the neck (cystic hygroma) and being a small baby.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">The two most common
characteristics of Turner syndrome are:<o:p></o:p></span></span></div>
<ul style="margin-top: 0in;" type="disc">
<li class="MsoNormal" style="background: white; mso-list: l2 level1 lfo1; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">short height<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l2 level1 lfo1; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">ovaries that do not function<o:p></o:p></span></span></li>
</ul>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">These two characteristics
affect more than nine out of ten females with Turner syndrome. Babies
with Turner syndrome are usually a normal height until the age of
three. After this age, they will have a lower-than-average growth
rate.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;">At </span><span lang="EN-US"><span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;">puberty</span></span><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;">, a girl
with Turner syndrome will not have the normal growth spurt. Puberty
usually happens in girls aged between eight and thirteen. Without
treatment, someone with Turner syndrome will usually grow
to around 136-147cm (4ft 6in to 4ft 10in). On average, adult women with
untreated Turner syndrome are 20cm (8in) shorter than adult women
without Turner syndrome. Treatment with growth hormones can reduce this
difference. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Ovaries are the pair of
reproductive organs in females that produce eggs and sex hormones. During
puberty, a girl's ovaries usually begin to produce the sex hormones oestrogen
and progesterone. However, most girls who have Turner syndrome will not
produce these sex hormones, which means that they:<o:p></o:p></span></span></div>
<ul style="margin-top: 0in;" type="disc">
<li class="MsoNormal" style="background: white; mso-list: l4 level1 lfo2; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">may not start their periods naturally
as other girls do <o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l4 level1 lfo2; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">may not fully develop breasts<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l4 level1 lfo2; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">may be infertile (unable
to conceive a baby)<o:p></o:p></span></span></li>
</ul>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">As well as
short height and non-functioning ovaries, there are many other symptoms or
characteristics that can affect girls and women with Turner syndrome. Some
of these are listed below.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Symptoms that affect
appearance include: <o:p></o:p></span></span></div>
<ul style="margin-top: 0in;" type="disc">
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">a particularly short, wide neck (webbed neck)<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">a broad chest and widely spaced nipples<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">arms that turn out slightly at the elbows<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">a low hairline<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">abnormalities of the mouth, which can cause
problems with the teeth<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">a large number of moles<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">small, spoon-shaped nails <o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">a short fourth finger or toe</span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-family: Arial, Helvetica, sans-serif;">eyes that slant downwards</span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-family: Arial, Helvetica, sans-serif;">an eye problem (cataract, ptosis)</span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-family: Arial, Helvetica, sans-serif;">low-set ears </span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo3; tab-stops: list .5in;"><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><span lang="FIL-PH" style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;">hearing loss</span></span>, which can develop
in later life, is often more severe and develops earlier than the normal
age-related decline in hearing</span></li>
</ul>
<div class="MsoNormal" style="background: white;">
<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Most girls
with Turner syndrome have good language and reading skills. However, some
have behavioural, social and specific learning difficulties that are often
overlooked by doctors that can cause great anxiety to the parents. They
include: <o:p></o:p></span></span></div>
<ul style="margin-top: 0in;" type="disc">
<li class="MsoNormal" style="background: white; mso-list: l5 level1 lfo6; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">problems with social intelligence <o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l5 level1 lfo6; tab-stops: list .5in;"><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">problems with spatial awareness and
numeracy</span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l5 level1 lfo6; tab-stops: list .5in;"><span style="background-color: transparent;"><span style="font-family: Arial, Helvetica, sans-serif;">attention and hyperactivity problems</span></span></li>
</ul>
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<b><span style="font-family: Arial, Helvetica, sans-serif;">Frequency</span></b><br />
<span lang="EN-US" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-size: 12pt;"><span style="font-family: Arial, Helvetica, sans-serif;">This condition occurs in about 1 in 2,000-2,500
female births worldwide, but is much more common among pregnancies that do not
survive to term (miscarriages and stillbirths).</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<b><span style="font-family: Arial, Helvetica, sans-serif;">Diagnosis</span></b><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">The condition may
be diagnosed at various life stages including:<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l1 level1 lfo1; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Before birth (prenatally) – usually if an amniocentesis has been
performed or abnormalities are seen during an ultrasound<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l1 level1 lfo1; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->At birth – due to certain physical features<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l1 level1 lfo1; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->In childhood – when the young girl doesn’t grow at a similar rate to her
peers<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l1 level1 lfo1; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->During the teenage years – when puberty fails to arrive<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l1 level1 lfo1; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->In adulthood – during investigations for infertility.<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Turner’s syndrome
is diagnosed using a number of tests including:<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l0 level1 lfo2; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Amniocentesis and chorionic villus sampling (before birth)<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l0 level1 lfo2; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Karyotyping<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l0 level1 lfo2; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Clinical history<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l0 level1 lfo2; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Physical examination<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l0 level1 lfo2; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Psychological and educational assessment<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: .5in; margin-right: 0in; margin-top: 0in; mso-list: l0 level1 lfo2; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·
<!--[endif]-->Blood tests and chromosome analysis <span style="background-color: transparent;">Genetic
tests.</span></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<b><span style="font-family: Arial, Helvetica, sans-serif;">Cause/s</span></b><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Turner syndrome is typically caused by what is called
nondisjunction. If a pair of sex chromosomes fails to separate during the
formation of an egg (or sperm), this is referred to as nondisjunction. When an
abnormal egg unites with a normal sperm to form an embryo, that embryo may end
up missing one of the sex chromosomes (X rather than XX). As the embryo grows
and the cells divide, every cell of the baby's body will be missing one of the
X chromosomes.<o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">The abnormality is not inherited from an affected parent (not passed
down from parent to child) because women with Turner syndrome are usually
sterile and cannot have children.<o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">In about 20 percent of Turner syndrome cases, one X chromosome is
abnormal. It may be shaped like a ring, or missing some genetic material.<o:p></o:p></span></div>
<div style="margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">About
30 percent of girls with the disorder are only missing the X chromosome in some
of their cells. This mixed chromosome pattern is known as mosaicism. Girls with
this pattern may have fewer symptoms because they still have some normal (XX)
cells.</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><br /></span>
<b>Treatments/Therapies</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Helvetica;"><span style="font-family: Arial, Helvetica, sans-serif;">Hormone replacement therapy is the best
way to treat this disorder. Teenagers are treated with growth hormone to help
them reach a normal height. They may also be given low doses of androgens (male
hormones which females also produce in small quantities) to increase height and
encourage normal hair and muscle growth. Some patients may take the female
hormone estrogen to promote normal sexual development.<o:p></o:p></span></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Babies born with a
heart murmur or narrowing of the aorta may need surgery to correct the problem.
A heart expert (<span style="color: windowtext; text-decoration: none;">cardiologist</span>) will assess and
follow up any treatment necessary.<o:p></o:p></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US">Girls
who have Turner syndrome are more likely to get middle ear infections. Repeated
infections may lead to hearing loss and should be evaluated by the
pediatrician. An ear, nose and throat specialist (</span><span lang="EN-US"><span style="color: windowtext; mso-bidi-font-family: Arial; text-decoration: none; text-underline: none;">ENT</span></span><span lang="EN-US">) may be involved in caring for this health
issue. Almost all women are infertile, but pregnancy with<span class="apple-converted-space"> </span></span><span lang="EN-US"><span style="color: windowtext; mso-bidi-font-family: Arial; text-decoration: none; text-underline: none;">donor</span></span><span class="apple-converted-space"><span lang="EN-US"> </span></span><span lang="EN-US">embryos
may be possible.</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><br /></span>
<b>Recommendations/Advices</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Remember that Regular
health checks are very important. <o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Special clinics
for the care of girls and women who have Turner syndrome are available in some
areas, with access to a variety of specialists. <o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Early preventive
care and treatment is very important. <o:p></o:p></span></div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">Having
appropriate medical treatment and support allows a woman with Turner syndrome
to lead a normal, healthy and happy life.</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><br /></span>
<b>References</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://www.nhs.uk/Conditions/Turners-syndrome/Pages/Symptoms.aspx"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://www.nhs.uk/Conditions/Turners-syndrome/Pages/Symptoms.aspx</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://learn.genetics.utah.edu/content/disorders/whataregd/turner/"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://learn.genetics.utah.edu/content/disorders/whataregd/turner/</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://www.medicinenet.com/turner_syndrome/page2.htm"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://www.medicinenet.com/turner_syndrome/page2.htm</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Turner's_syndrome</span><o:p></o:p></span><br />
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span>
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Photos from:</b></span></span><br />
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgbOGxLpB7yrAeTjWHu5TioPgKTcJ8VCjSrK_0IiLl2S5OkoJyggolg3x5F0tzuhtVOOCQ4r4mtTQPY7zLPwsyFCRBluopFpoccE1gHfx8r68p1f0OvCKBExrdzpye-Ugok_0UWiM9H3SQ/s320/images+(1).jpg</span></span><br />
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiV2tLe1GJ2eUP3NNcYb74FpbGb9JzeTB8WKQ5lUvay2NvvVEjHDp-LuU3yynXSAwWFYdQmioFpkqJJY3nVC5OoT4pkw8kjNrM0lG5NJUr9XlmUvcdd25W7GNUfdVBZIL7S4zTh79v5fJ0/s320/X2604-T-53.png</span></span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com1tag:blogger.com,1999:blog-954453551672198011.post-10009855550364632142013-03-12T01:16:00.000-07:002013-03-15T10:18:09.520-07:00CRYPTORCHIDISM<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Alternate Names:</b> Undescended testicles<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="separator" style="clear: both; text-align: center;">
<a href="http://wikis.lib.ncsu.edu/images/f/f6/Cryptorchidism.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="209" src="http://wikis.lib.ncsu.edu/images/f/f6/Cryptorchidism.jpg" width="320" /></span></a></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Overview:</b></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> Cryptorchidism literally
means hidden or obscure testis and generally refers to an undescended or
maldescended testis. Untreated cryptorchidism clearly has deleterious effects
on the testis over time.<span class="apple-converted-space"> </span></span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span class="apple-converted-space"><br /></span></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Phenotype/Characteristics:</b> Testicles absent
from the normal </span><span lang="EN-PH">scrotal position can be:</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 1.2pt; margin-left: 38.4pt; mso-list: l1 level1 lfo1; mso-margin-top-alt: auto; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">1. </span><span lang="EN-PH">from
high the posterior (retroperitoneal) abdomen, just below the </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">kidney</span></span><span lang="EN-PH">, to
the inguinal ring;<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 1.2pt; margin-left: 38.4pt; mso-list: l1 level1 lfo1; mso-margin-top-alt: auto; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">2. </span><span lang="EN-PH">in the </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">inguinal canal</span></span><span lang="EN-PH">;<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 1.2pt; margin-left: 38.4pt; mso-list: l1 level1 lfo1; mso-margin-top-alt: auto; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">3. </span><i><span lang="EN-PH">ectopic</span></i><span lang="EN-PH">, usually outside the inguinal canal and
sometimes even under the skin of the thigh, the </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">perineum</span></span><span lang="EN-PH">, the
opposite scrotum, or the </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">femoral canal</span></span><span lang="EN-PH">;<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 1.2pt; margin-left: 38.4pt; mso-list: l1 level1 lfo1; mso-margin-top-alt: auto; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">4. </span><span lang="EN-PH">found
to be undeveloped (<i>hypoplastic</i>) or severely abnormal (<i>dysgenetic</i>);<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 1.2pt; margin-left: 38.4pt; mso-list: l1 level1 lfo1; mso-margin-top-alt: auto; tab-stops: list .5in; text-indent: -.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">5. </span><span lang="EN-PH">found
to have vanished (anorchia)<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 1.2pt; margin-left: 38.4pt; mso-list: l1 level1 lfo1; mso-margin-top-alt: auto; tab-stops: list .5in; text-indent: -.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 1.2pt; mso-margin-top-alt: auto;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">The condition is
associated with reduced fertility, increased risk of testicular tumors, and
psychological problems. It also predisposes the patient to testicular torsion
and inguinal hernias. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Frequency:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">About 3% of full-term and
30% of premature infant boys are born with at least one<span class="apple-converted-space"> </span>undescended testis. However, about 80% of cryptorchid testes
descend by the first year of life (the majority within three months), making
the true incidence of cryptorchidism around 1% overall.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Cryptorchidism is identified in 1.5-4% of fathers and 6.2% of
brothers of patients with cryptorchidism. Heritability in first-degree male
relatives is estimated to be 0.67.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 8.3pt; margin-left: 0in; margin-right: 0in; margin-top: 8.3pt; vertical-align: baseline;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;"><b>Diagnosis: </b></span><span lang="EN-PH" style="line-height: 115%;">An examination confirms that one or both of the testicles are not in the
scrotum.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 8.3pt; margin-left: 0in; margin-right: 0in; margin-top: 8.3pt; vertical-align: baseline;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">The health care provider may or may not be able to feel the undescended
testicle in the abdominal wall above the scrotum. <span style="background-position: initial initial; background-repeat: initial initial;">Approximately
20-30% of patients with cryptorchidism have nonpalpable testes.<span class="apple-converted-space"> </span>Nonpalpable testes may be
intra-abdominal or absent. Palpable testes may be undescended, ectopic, or
retractile.</span><o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 8.3pt; margin-left: 0in; margin-right: 0in; margin-top: 8.3pt; vertical-align: baseline;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><span style="background-position: initial initial; background-repeat: initial initial;"><br /></span></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Causes:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Cryptorchidism is
multifactorial. Extensive research and clinical observations have elucidated
some of the factors involved, but the exact mechanism of cryptorchidism has
proven to be elusive.</span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Low birth weight often results in the condition.</span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">Transabdominal
descent of the testis involves differential growth of vertebrae and pelvis and
is facilitated by the development of the gubernaculum, processus vaginalis,
spermatic vessels, and scrotum.</span><span lang="EN-PH"><a href="http://www.blogger.com/blogger.g?blogID=954453551672198011"><span class="apple-converted-space"><sup><span style="color: windowtext; line-height: 115%; text-decoration: none;"> </span></sup></span></a></span><span lang="EN-PH" style="line-height: 115%;">A normal hypothalamic-pituitary-gonadal axis is a prerequisite for
testicular descent.</span><span lang="EN-PH"><a href="http://www.blogger.com/blogger.g?blogID=954453551672198011"><span class="apple-converted-space"><sup><span style="color: windowtext; line-height: 115%; text-decoration: none;"> </span></sup></span></a></span><span lang="EN-PH" style="line-height: 115%;">Furthermore, testosterone and its conversion to dihydrotestosterone
(DHT) are also necessary for continued migration, especially during the
inguinoscrotal phase.</span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">Although its exact
mechanism of action is unclear, the gubernaculum has significant importance in
undescended testes. In patients with cryptorchidism, the gubernaculum is not
firmly attached to the scrotum, and the testis is not pulled into the scrotum.</span><span lang="EN-PH"><a href="http://www.blogger.com/blogger.g?blogID=954453551672198011"><span class="apple-converted-space"><sup><span style="color: windowtext; line-height: 115%; text-decoration: none;"> </span></sup></span></a></span><span lang="EN-PH" style="line-height: 115%;"> <o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">Intra-abdominal
pressure also appears to play a role in testicular descent. Conditions
associated with decreased pressure include<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="line-height: 115%;">prune belly syndrome</span></span><span lang="EN-PH" style="line-height: 115%;">,cloacal
exstrophy,<span class="apple-converted-space"> </span>omphalocele,
and gastroschisis, among other various syndromes. Each is associated with an
increased risk of undescended testes.</span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Associated
anomalies: Associated anomalies and conditions may include the following:</span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in; mso-list: l0 level1 lfo2; tab-stops: list .5in; text-indent: -.25in;">
</div>
<ul>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Patent
processus vaginalis</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Abnormal
epididymis</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;"> Cerebral palsy</span></span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Mental
retardation</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;"> Wilms tumor</span></span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Abdominal
wall defects (eg, gastroschisis, omphalocele, prune belly syndrome)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;"> Hypospadias</span></span></li>
</ul>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies: </b></span></span><span style="background-color: white; font-family: Arial, Helvetica, sans-serif;">Most cases get better on their own, without any treatment.
Medicine or surgery to correct the condition is usually successful.</span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Cryptorchidism should be treated when the patient is aged
approximately 6 months.<span class="apple-converted-space"> <o:p></o:p></span></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Human chorionic gonadtropin (hCG) is administered via
intramuscular injection and stimulate androgen production and testicular
descent (mechanism still unknown). Ginadtropin releasing hormone promoted the
same effect and may be used for a combined hormonal treatment.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Successful surgical placement of the testis in the scrotum
(adequate mobilization of the testis and spermatic vessels, ligation of the
associated hernia sac, and adequate fixation of the testis in a dependent
portion of the scrotum) can be employed.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups:</b></span></span></div>
<h1 style="background: #FDF5EC; margin-top: 0in; vertical-align: baseline;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH"><span style="border: 1pt none windowtext; color: windowtext; font-weight: normal; line-height: 115%; padding: 0in;"><a href="http://www.experienceproject.com/groups/Have-Cryptorchidism/97567" title="I Have Cryptorchidism">I Have Cryptorchidism</a></span></span></span></h1>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><a href="http://www.experienceproject.com/groups/Have-Cryptorchidism/97567">http://www.experienceproject.com/groups/Have-Cryptorchidism/97567</a><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<h1 style="background: white; margin-top: 0in; vertical-align: baseline;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">Kaneshiro, N. (2012) </span><span class="Title1"><span lang="EN-PH" style="border: 1pt none windowtext; color: windowtext; font-weight: normal; line-height: 115%; padding: 0in;">Undescended testicle. ADAM Medical Encyclopedia. Retrieved March 12, 2013
from the URL: </span></span><span lang="EN-PH"><a href="http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001968/"><span style="border: 1pt none windowtext; color: windowtext; font-weight: normal; line-height: 115%; padding: 0in;">http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001968/</span></a></span><span class="Title1"><span lang="EN-PH" style="border: 1pt none windowtext; color: windowtext; font-weight: normal; line-height: 115%; padding: 0in;"><o:p></o:p></span></span></span></h1>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Sumfest, J. (2012). Cryptorchidism.
Medscape reference. Retrieved March 12, 2013 from the URL: <a href="http://emedicine.medscape.com/article/438378-overview">http://emedicine.medscape.com/article/438378-overview</a><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<span style="font-family: Arial, Helvetica, sans-serif;">Photo from:</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">http://wikis.lib.ncsu.edu/images/f/f6/Cryptorchidism.jpg</span><br />
<br /></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-25573793455779622232013-03-12T01:15:00.005-07:002013-03-15T10:19:42.127-07:00DOWN SYNDROME<span style="font-family: Arial, Helvetica, sans-serif;">Down syndrome (DS), also called Trisomy 21, is a condition
in which extra genetic material causes delays in the way a child develops, both
mentally and physically.</span><br />
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><b><br /></b>
<b>Frequency of births</b>: 1/700</span><br />
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><o:p></o:p></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency of Abortuses</b>: 1/40</span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white; line-height: 15.6pt; mso-outline-level: 3;">
<b><span style="border: 1pt none windowtext; padding: 0in;"><span style="font-family: Arial, Helvetica, sans-serif;">Chromosome basics of Down syndrome .</span></span></b></div>
<div class="MsoNormal" style="background: white; line-height: 15.6pt; mso-outline-level: 3;">
</div>
<span style="font-family: Arial, Helvetica, sans-serif;"><br />
</span><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh2Co-9bvg5qgbgQs_zkf-VzBse-LDYS8M1myUlr-0ZEv9ZlFAxKeq7Pq-44-c2IRaScPmB-TkTugCrirnISQtEamkN7s30LkkYq6LjrKM7LlCjXmms5RxKvl6Ry4VWBAWzK7rYVUTR6Wg/s1600/down.jpg" imageanchor="1" style="clear: right; float: right; margin-bottom: 1em; margin-left: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="264" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh2Co-9bvg5qgbgQs_zkf-VzBse-LDYS8M1myUlr-0ZEv9ZlFAxKeq7Pq-44-c2IRaScPmB-TkTugCrirnISQtEamkN7s30LkkYq6LjrKM7LlCjXmms5RxKvl6Ry4VWBAWzK7rYVUTR6Wg/s320/down.jpg" width="320" /></span></a><span style="font-family: Arial, Helvetica, sans-serif;"><span style="line-height: 15.6pt;"><span style="border: 1pt none windowtext; padding: 0in;"><b> </b>a.) Addition of extra chromosome 21</span></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="line-height: 15.6pt;"><span style="border: 1pt none windowtext; padding: 0in;"> </span></span><span style="background-color: white;"> </span><span style="background-color: white; line-height: 20.796875px;"> </span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="background-color: white; line-height: 13.6pt;"> b.) Down Syndrome due to Translocation</span><span style="background-color: white; font-weight: bold; line-height: 13.6pt;"> </span><span style="border: 1pt none windowtext; padding: 0in;"><br /></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br />
</span><br />
<div style="background: white; line-height: 13.6pt; margin-bottom: .0001pt; margin: 0in;">
</div>
<div style="background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-indent: -0.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><span style="line-height: normal;"> --> </span></span><!--[endif]--><span lang="FIL-PH">Approximately 3% to 4% of individuals
with Down syndrome do not inherit an entire extra chromosome 21, but just some
extra chromosome 21 genes, which are attached to another chromosome (usually
chromosome 14) and this phenomenon is called a<span class="apple-converted-space"> </span><b><i><span style="border: none windowtext 1.0pt; mso-border-alt: none windowtext 0in; padding: 0in;">translocation</span></i></b>. <o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
<div style="background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-indent: -0.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">--> About 2% to 4% of people with Down
syndrome inherit additional genes from chromosome 21, but not in every cell of
the body. This is known as<span class="apple-converted-space"> </span><b><i><span style="border: none windowtext 1.0pt; mso-border-alt: none windowtext 0in; padding: 0in;">mosaic Down syndrome</span></i></b>. <o:p></o:p></span></span></div>
<div style="background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-indent: -0.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"><br /></span></span></div>
<div style="line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-align: center; text-indent: -0.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;">The only well known risk factor for conceiving a child
with Down syndrome is advanced maternal age. The older the woman is at
conception, the greater the risk of having a child with Down syndrome.</span></div>
<div style="line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-align: center; text-indent: -0.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormalCxSpFirst" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin-bottom: 17pt; text-align: center;">
<div style="text-align: center;">
<span style="font-family: Arial, Helvetica, sans-serif;">Mother's age at
conception Risk of Down syndrome<o:p></o:p></span></div>
</div>
<div class="MsoNormalCxSpMiddle" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 10.2pt 20.15pt; text-align: center; text-indent: -0.25in;">
<div style="text-align: center;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·<span style="line-height: normal;">
</span><!--[endif]-->25 years 1 in
1,250<o:p></o:p></span></div>
</div>
<div class="MsoNormalCxSpMiddle" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 10.2pt 20.15pt; text-align: center; text-indent: -0.25in;">
<div style="text-align: center;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·<span style="line-height: normal;">
</span><!--[endif]-->30 years 1 in
1,000<o:p></o:p></span></div>
</div>
<div class="MsoNormalCxSpMiddle" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 10.2pt 20.15pt; text-align: center; text-indent: -0.25in;">
<div style="text-align: center;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·<span style="line-height: normal;">
</span><!--[endif]-->35 years 1 in 400<o:p></o:p></span></div>
</div>
<div class="MsoNormalCxSpMiddle" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 10.2pt 20.15pt; text-align: center; text-indent: -0.25in;">
<div style="text-align: center;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;">·<span style="line-height: normal;">
</span><!--[endif]-->40 years 1 in 100</span></div>
</div>
<div class="MsoNormalCxSpMiddle" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 10.2pt 20.15pt; text-align: center; text-indent: -0.25in;">
<div style="text-align: center;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="background-color: transparent; line-height: 13.6pt; text-indent: -0.25in;">·<span style="line-height: normal;">
</span></span><span style="line-height: 13.6pt; text-indent: -0.25in;">45 years 1 in 30</span><span style="background-color: transparent; line-height: 13.6pt; text-indent: -0.25in;"> </span></span></div>
</div>
<div style="background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-indent: -0.25in;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div style="background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-indent: -0.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis:</b> A.)
Screening tests during pregnancy (Ultrasound, Blood tests)</span></div>
<div style="background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-indent: -0.25in;">
<span style="line-height: 13.6pt; text-indent: -0.25in;"><span style="font-family: Arial, Helvetica, sans-serif;"> B.)Diagnostic
tests during pregnancy (Amniocentesis, CVS </span></span></div>
<div style="line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-align: start; text-indent: -0.25in;">
<span style="font-family: Arial, Helvetica, sans-serif; line-height: 13.6pt; text-align: center; text-indent: -0.25in;"> C.) Diagnostic tests for newborns(Through appearance and karyotyping)</span></div>
<div style="background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-indent: -0.25in;">
<span lang="FIL-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div style="background-position: initial initial; background-repeat: initial initial; line-height: 13.6pt; margin: 0in 0in 0.0001pt 0.5in; text-indent: -0.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH"></span></span></div>
<div class="MsoNormal" style="background: white; line-height: 11.55pt; margin-bottom: 3.4pt; margin-left: 0in; margin-right: 0in; margin-top: 3.4pt; mso-outline-level: 3;">
<b><span style="font-family: Arial, Helvetica, sans-serif;">Treatment<o:p></o:p></span></b><br />
<b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></b></div>
<div class="MsoListParagraph" style="background: white; line-height: 16.2pt; margin-bottom: 3.4pt; margin-left: .5in; margin-right: 0in; margin-top: 2.05pt; mso-add-space: auto; mso-list: l0 level1 lfo1; text-indent: -.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="color: #333333;"> There is no specific treatment for Down syndrome. A child born
with a gastrointestinal blockage may need major surgery immediately after
birth. Certain heart defects may also require surgery. </span></span></div>
<div class="MsoListParagraph" style="background: white; line-height: 16.2pt; margin-bottom: 3.4pt; margin-left: .5in; margin-right: 0in; margin-top: 2.05pt; mso-add-space: auto; mso-list: l0 level1 lfo1; text-indent: -.25in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="color: #333333;"><br /></span></span></div>
<div class="MsoListParagraph" style="background: white; line-height: 16.2pt; margin-bottom: 3.4pt; margin-left: .5in; margin-right: 0in; margin-top: 2.05pt; mso-add-space: auto; mso-list: l0 level1 lfo1; text-indent: -.25in;">
<b style="line-height: 16.2pt; text-indent: -0.25in;"><span style="font-family: Arial, Helvetica, sans-serif;">Needs of children with Down syndrome. . </span></b></div>
<div class="MsoListParagraph" style="background: white; line-height: 16.2pt; margin-bottom: 3.4pt; margin-left: .5in; margin-right: 0in; margin-top: 2.05pt; mso-add-space: auto; mso-list: l0 level1 lfo1; text-indent: -.25in;">
<span style="color: #333333;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoListParagraph" style="background-position: initial initial; background-repeat: initial initial; margin: 2.05pt 0in 3.4pt 0.5in; text-indent: -0.25in;">
</div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="border: 1pt none windowtext; padding: 0in;"></span><br /></span>
<div style="background-color: white; line-height: 13.6pt; margin: 0in 0in 17pt;">
<span style="border: 1pt none windowtext; padding: 0in;"><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">Like all children, children with Down syndrome greatly
benefit from being able to learn and explore in a safe and supportive
environment. Being included in family, community, and preschool life will help
a child with Down syndrome develop to his or her full potential.<o:p></o:p></span></span></span></div>
<span style="border: 1pt none windowtext; font-family: Arial, Helvetica, sans-serif; padding: 0in;">
</span>
<div class="MsoNormal" style="background-color: white; line-height: 16.2pt;">
<span style="border: 1pt none windowtext; font-family: Arial, Helvetica, sans-serif; padding: 0in;">What can you
do?<o:p></o:p></span></div>
<span style="border: 1pt none windowtext; font-family: Arial, Helvetica, sans-serif; padding: 0in;">
<div style="background-color: white; line-height: 16.8pt; margin: 12pt 0in 0.25in; vertical-align: baseline;">
<span lang="FIL-PH">1.) If you're the parent of
a child diagnosed with Down syndrome, you may at first feel overwhelmed by
feelings of loss, guilt, and fear. Talking with other parents of kids with DS
may help you deal with the initial shock and grief and find ways to look toward
the future. <o:p></o:p></span></div>
<div style="background-color: white; line-height: 16.8pt; margin: 12pt 0in 0.25in; vertical-align: baseline;">
<span lang="FIL-PH">2.) Experts recommend
enrolling kids with Down syndrome in early-intervention services as soon as
possible. Physical, occupational, and speech therapists and early-childhood
educators can work with your child to encourage and accelerate development. <o:p></o:p></span></div>
<div style="background-color: white; line-height: 16.8pt; margin: 12pt 0in 0.25in; vertical-align: baseline;">
<span lang="FIL-PH">3.)<b>
</b>If your sibling (brother or sister) has Down syndrome, then there are some
things you can do to help:</span></div>
> Be patient. Your sibling will take longer to learn things or understand things. <br />> You could encourage her to speak clearly. <br />> You could help her learn skills like playing with a ball.<br />> You can be kind and understand that everyone has feelings.<br />> You can praise her when she does well.<br />> You can tell her calmly when she has done something which hurts your feelings or your things.<br />> You can show her how to do something, then let her copy each small step until she can do it, eg making the bed, tying shoelaces.</span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="border: 1pt none windowtext; padding: 0in;"></span><br /></span>
<div style="margin: 12pt 0in 0.25in; vertical-align: baseline;">
<span style="border: 1pt none windowtext; padding: 0in;"><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">
</span></span></span></div>
<span style="border: 1pt none windowtext; padding: 0in;"><span style="font-family: Arial, Helvetica, sans-serif;">
</span></span>
<div style="margin: 12pt 0in 0.25in; vertical-align: baseline;">
<span style="border: 1pt none windowtext; padding: 0in;"><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="FIL-PH">4.) </span><span lang="FIL-PH">Get to know them and respect them. We
are all different!</span></span></span></div>
<span style="border: 1pt none windowtext; padding: 0in;"><span style="font-family: Arial, Helvetica, sans-serif;">
<div class="separator" style="clear: both; text-align: center;">
<a href="http://t1.gstatic.com/images?q=tbn:ANd9GcT2vOzMNXU1SXtF3G7zjpv4VkhvhWVmwgFEEa4NGYt43q0QadKE_A" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" src="http://t1.gstatic.com/images?q=tbn:ANd9GcT2vOzMNXU1SXtF3G7zjpv4VkhvhWVmwgFEEa4NGYt43q0QadKE_A" /></a></div>
<div style="margin: 12pt 0in 0.25in; vertical-align: baseline;">
<span lang="FIL-PH"><br /></span></div>
<div class="separator" style="clear: both; text-align: center;">
<a href="http://www.theupsofdowns.org/images/downs+baby.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="178" src="http://www.theupsofdowns.org/images/downs+baby.jpg" width="200" /></a><a href="http://t3.gstatic.com/images?q=tbn:ANd9GcQQ2yRg25KJsuoJSVef15l6xR-ioBojJURwaXOuu9kkICTidZd_HQ" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="200" src="http://t3.gstatic.com/images?q=tbn:ANd9GcQQ2yRg25KJsuoJSVef15l6xR-ioBojJURwaXOuu9kkICTidZd_HQ" width="195" /></a></div>
<div class="separator" style="clear: both; text-align: center;">
<span style="background-color: white; line-height: 16.8pt;"><b>References:</b></span></div>
<div style="background-color: white; line-height: 16.8pt; margin: 12pt 0in 0.25in; vertical-align: baseline;">
<span lang="FIL-PH"></span></div>
<div class="MsoNormal" style="background-color: white; line-height: 16.2pt;">
Down Syndrome (2013). Retrieved on March 12, 2013 from
http://kidshealth.org/parent/medical/genetic/down_syndrome.html#<o:p></o:p></div>
<div class="MsoNormal" style="background-color: white; line-height: 16.2pt;">
<br /></div>
<div class="MsoNormal" style="background-color: white; line-height: 16.2pt;">
Heyn, S. (2013). Down Syndrome. Retrieved on March 12, 2013
from <a href="http://www.medicinenet.com/down_syndrome/page8.htm"><span style="color: black;">http://www.medicinenet.com/down_syndrome/page8.htm</span></a><o:p></o:p></div>
<div class="MsoNormal" style="background-color: white; line-height: 16.2pt;">
<br /></div>
<div class="MsoNormal" style="background-color: white; line-height: 16.2pt;">
<o:p>Down Syndrome (2012). Retrieved on March 12,
2013 from
http://www.cyh.com/HealthTopics/HealthTopicDetailsKids.aspx?p=335&id=2266&np=282</o:p></div>
<div style="background-color: white; line-height: 16.2pt;">
</div>
<div style="background-color: white; margin: 12pt 0in 0.25in; vertical-align: baseline;">
<div style="line-height: 16.8pt;">
<b>Photos from:</b></div>
<span style="line-height: 22.386363983154297px;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEh2Co-9bvg5qgbgQs_zkf-VzBse-LDYS8M1myUlr-0ZEv9ZlFAxKeq7Pq-44-c2IRaScPmB-TkTugCrirnISQtEamkN7s30LkkYq6LjrKM7LlCjXmms5RxKvl6Ry4VWBAWzK7rYVUTR6Wg/s320/down.jpg</span><br />
<span style="line-height: 22.386363983154297px;">http://t1.gstatic.com/images?q=tbn:ANd9GcT2vOzMNXU1SXtF3G7zjpv4VkhvhWVmwgFEEa4NGYt43q0QadKE_A</span><br />
<span style="line-height: 22.386363983154297px;">http://www.theupsofdowns.org/images/downs+baby.jpg</span><br />
<span style="line-height: 22.386363983154297px;">http://t3.gstatic.com/images?q=tbn:ANd9GcQQ2yRg25KJsuoJSVef15l6xR-ioBojJURwaXOuu9kkICTidZd_HQ</span></div>
</span></span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-85081364209699552942013-03-12T01:11:00.002-07:002013-03-15T10:20:55.596-07:00HYPOSPADIAS<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Overview: </b></span><span lang="EN-PH" style="background-color: white; line-height: 115%;">Hypospadias is an abnormality of anterior
urethral and penile development in which the urethral opening is </span><span lang="EN-PH" style="background-color: white; line-height: 115%;">anywhere along a line (the<span class="apple-converted-space"> </span><i>urethral groove</i>) running from
the tip along the underside (ventral aspect) of the shaft to the junction of
the penis and<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 115%;">scrotum</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background-color: white; line-height: 115%;"> </span></span><span lang="EN-PH" style="background-color: white; line-height: 115%;">or<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 115%;">perineum</span></span><span lang="EN-PH" style="background-color: white; line-height: 115%;">. </span><span lang="EN-PH" style="background-color: white; line-height: 115%;">The
penis is more likely to have associated ventral shortening and curvature,
called chordee, with more proximal urethral defects.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="separator" style="clear: both; text-align: center;">
<a href="http://www.cdc.gov/ncbddd/birthdefects/images/hypospadias-sm.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" src="http://www.cdc.gov/ncbddd/birthdefects/images/hypospadias-sm.jpg" /></span></a></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Phenotype/Characteristics: </b>The opening of
the urethra that carries the urine is located underside of the penis, and can
occur anywhere from just below the end of the penis to the scrotum. Hypospadias
can also manifest as an abnormally positioned genitals. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Severe hypospadias have associated
structural anomalies such as undescended testicles (10 % of cases) and inguinal
hernia. Enlarged prostaric utricle can predispose a patient to urinary tract
infections, pseudo-incontinence and stone formation.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white; line-height: 14.25pt; margin-bottom: 12.0pt;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">This condition may cause a downward curve of the penis during
an erection. Erections are common in infant boys.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; line-height: 14.25pt; margin-bottom: 12.0pt;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Other symptoms include:<span style="color: #333333;"><o:p></o:p></span></span></span></div>
<ul type="disc">
<li class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 14.25pt;"><span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Abnormal spraying of urine<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 14.25pt;"><span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Having to sit down to urinate<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 14.25pt;"><span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Foreskin that makes the penis looks like it has a "hood"<o:p></o:p></span></span></li>
</ul>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div style="background: white; line-height: 14.25pt; margin-bottom: 12.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Frequency: </b></span><span lang="EN-PH" style="color: #333333;">Hypospadias
occurs in up to 4 in 1,000 newborn boys. Sometimes, the condition
is passed down through families.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Diagnosis: </b></span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; color: #333333; line-height: 115%;">This problem is almost always diagnosed soon
after birth during a physical exam. Imaging tests may be done to look
for other congenital defects.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;">The diagnosis of
hypospadias can be made prenatally using both prenatal fetal ultrasonography
and MRI.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Causes: </b><o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 7.5pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">·
</span><!--[endif]--><span lang="EN-PH">Genetic factors<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 15pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">o </span><!--[endif]--><span lang="EN-PH">Inadequate human
chorionic gonadotropin (HCG) produced by a single placenta (commonly with
twins), with an inadequate supply during critical periods of urethral
development cause hypospadia<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 15pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">o </span><!--[endif]--><span lang="EN-PH">Inhertitance is
polygenic; male children of fathers with hypospadias has been reported as 8%,
and 14% of brothers of children with hypospadias are also affected. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 7.5pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">·
</span><!--[endif]--><span lang="EN-PH">Endocrine factors<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 15pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">o </span><!--[endif]--><span lang="EN-PH">A decrease in
available androgen or an inability to use available androgen appropriately may
result in hypospadias. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 15pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">o </span><!--[endif]--><span lang="EN-PH">A higher incidence of
hypospadias in winter conceptions has also been proposed. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 15pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">o </span><!--[endif]--><span lang="EN-PH">Other factors that
contribute to infertility, such as underlying endocrinopathies or fetal
endocrine abnormalities, may play a role.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 7.5pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">·
</span><!--[endif]--><span lang="EN-PH">Environmental factors<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 15pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">o </span><!--[endif]--><span lang="EN-PH">Endocrine disruption
by environmental agents is blamed for increasing incidence<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 15pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">o </span><!--[endif]--><span lang="EN-PH">Estrogenic substances
have been implicated in abnormal penile development in many animal models. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 7.5pt; text-indent: -0.25in;">
<!--[if !supportLists]--><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">·
</span><!--[endif]--><span lang="EN-PH">Combination theory: A growing body of
evidence suggests that the development of hypospadias is multifactorial</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="background-color: white; background-position: initial initial; background-repeat: initial initial; margin: 0in 0in 0.0001pt 7.5pt;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies:</b><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background-color: white; line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Minor cases of
hypospadias, in which the meatus is located up toward the tip of the glans, may
not require surgical repair and may simply be managed with observation.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 14.25pt; margin-bottom: 12.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="color: #333333;"><span style="font-family: Arial, Helvetica, sans-serif;">Infants with hypospadias
should not be circumcised. The foreskin should be kept for use in later
surgical repair.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 14.25pt; margin-bottom: 12.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Surgery is usually done
before the child starts school. Today, most urologists recommend repair before
the child is 18 months old. Surgery can be done as young as 4 months old.
During the surgery, the penis is straightened and the opening is corrected
using tissue grafts from the foreskin. The repair may require multiple
surgeries.<span style="color: #333333;"><o:p></o:p></span></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;">Because most
patients with hypospadias are surgically treated at a very young age, parental
teaching and reassurance is very important to ensure a satisfactory experience
for the families of patients with hypospadias. Evidence suggests that online
support groups can play an important role in how parents and patients cope with
this condition.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups:</b><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Hypospadias and Epispadias Association,
Inc.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">http://heainfo.org/<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Kaneshiro, N. (2012). Hypospadias. MedLine
Plus. Retrieved March 12, 2013 from the URL: <a href="http://www.nlm.nih.gov/medlineplus/ency/article/001286.htm">http://www.nlm.nih.gov/medlineplus/ency/article/001286.htm</a><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif;">Gatti, J. (2011). Hypospadias. MedScape.
Retrieved March 12, 2013 from the URL: <a href="http://emedicine.medscape.com/article/1015227-followup#a2651">http://emedicine.medscape.com/article/1015227-followup#a2651</a><o:p></o:p></span><br />
<span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Photo from:</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">http://www.cdc.gov/ncbddd/birthdefects/images/hypospadias-sm.jpg</span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-87765620474758144802013-03-12T01:06:00.003-07:002013-03-15T10:21:26.673-07:00PHILADELPHIA CHROMOSOME<br />
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Alternate Names:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;">Philadelphia
translocation, Ph (or Ph') chromosome, t(9;22)(q34.1;q11.2)</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;"><br /></span></span></div>
<div class="separator" style="clear: both; text-align: center;">
<a href="http://t0.gstatic.com/images?q=tbn:ANd9GcQmlQCkaMf9Ke1IWKaHwd9aNTstPGrA6ftmo_LM4-weZhKg5rUe&t=1" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="http://t0.gstatic.com/images?q=tbn:ANd9GcQmlQCkaMf9Ke1IWKaHwd9aNTstPGrA6ftmo_LM4-weZhKg5rUe&t=1" /></a></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Overview: </b>It is a </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">specific </span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">chromosomal</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">abnormality, associated with<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">chronic myelogenous leukemia</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">(CML) as a result of a reciprocal<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">translocation</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">between chromosome 9 and 22. This translocation takes
place in a single bone marrow cell and, through the process of clonal expansion
(the production of many cells from this one mutant cell), it gives rise to the
leukemia.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Phenotype/Characteristics:</b> It is associated
with chronic myelogenous leukemia which has the following symptoms: </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">often<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">asymptomatic</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">at diagnosis, initially indicated with an elevated<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">white blood cell</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">count, enlarged spleen causing pain on the left side,<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">malaise</span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">, joint and/or
hip pain,<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">low-grade fever</span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">, increased susceptibility to<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">infections</span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">,<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">anemia</span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">, and<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">thrombocytopenia</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">with easy </span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">bruising</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">(although an<span class="apple-converted-space"> </span><i>increased</i><span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">platelet</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">count (</span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">thrombocytosis</span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">) may also occur
in CML).<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">May also be associated with acute lymphoblastic leukemia and
acute myeloid leukemia and show the respective characteristics.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Frequency:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">95% of people with chronic
myeloid leukemia have the Philadelphia chromosome, </span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Diagnosis:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Patients can be subjected
to immunophenotyping and conventional karyotyping. FISH can be used in failed
cases of conventional cytogenetics analysis to quantify disease and to prove
positive BCR-ABL gene fusion.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Causes:</b> </span></span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-family: Arial, Helvetica, sans-serif; line-height: 115%;">A
large portion of a proto-oncogene, called ABL, on chromosome 9 is translocated
to the BCR gene on chromosome 22. The two gene segments are fused and
ultimately produce a chimeric protein that is larger than the normal ABL
protein. The malignant state is a consequence of this process since the gene
that encodes a protein with deregulated (uncontrolled) tyrosine kinase activity
is a strong evidence of its pathogenetic (disease-causing) role. </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">The result
of the <i>BCR-Abl</i> fusion is to speed up cell division,
inhibiting </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;"><a href="http://en.wikipedia.org/wiki/DNA_repair" title="DNA repair"><span style="color: windowtext; line-height: 115%; text-decoration: none;">DNA repair</span></a></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">,
causing </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;"><a href="http://en.wikipedia.org/w/index.php?title=Genomic_instability&action=edit&redlink=1" title="Genomic instability (page does not exist)"><span style="color: windowtext; line-height: 115%; text-decoration: none;">genomic instability</span></a></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;"> and
potentially causing the feared </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;"><a href="http://en.wikipedia.org/wiki/Chronic_myelogenous_leukemia#Blast_crisis" title="Chronic myelogenous leukemia"><span style="color: windowtext; line-height: 115%; text-decoration: none;">blast crisis</span></a></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;"> in
CML.</span></div>
<div style="line-height: 115%; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 4.8pt;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 115%;">
<!--[if !supportLineBreakNewLine]--><br />
<!--[endif]--></span><span lang="EN-PH" style="line-height: 115%;"><o:p></o:p></span></span></div>
<h3 style="background: white; line-height: 115%; margin-bottom: .05in; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="line-height: 115%;">Treatment/Recommendations/Therapies:
</span><span class="mw-headline"><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">Tyrosine kinase inhibitors </span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">greatly
limit the growth of the tumor clone and decreased the risk of the feared "</span><span lang="EN-PH"><span style="font-weight: normal; line-height: 115%;">blast crisis</span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">"
(rapid progression and short survival of CML cells, indicating the onset of
disease). Other pharmacological
inhibitors are being developed, which are more potent and/or are active against
the emerging resistant BCR-abl clones in treated patients.</span><span class="apple-converted-space"><span lang="EN-PH" style="font-weight: normal; line-height: 115%;"> </span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;"><o:p></o:p></span></span></h3>
<div>
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span class="apple-converted-space"><span lang="EN-PH" style="font-weight: normal; line-height: 115%;"><br /></span></span></span></div>
<h3 style="background: white; line-height: 115%; margin-bottom: .05in; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span class="mw-headline"><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">Blood or marrow transplants
is a potentially curative but risky procedure </span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">but
chemotherapy is favored by some for achieving first remission. </span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;"><o:p></o:p></span></span></h3>
<div>
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="font-weight: normal; line-height: 115%;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<h1 style="background: white; margin-bottom: 4.5pt; margin-left: 0in; margin-right: 0in; margin-top: 4.5pt; vertical-align: baseline;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">Atfy, M et al. (2011). </span><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">Incidence
of Philadelphia-chromosome in acute myelogenous leukemia and biphenotypic acute
leukemia patients: And its role in their outcome. PubMed. Retrieved March 12,
2013 from the URL: </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%;"><a href="http://www.ncbi.nlm.nih.gov/pubmed/21612824">http://www.ncbi.nlm.nih.gov/pubmed/21612824</a></span></span></span></h1>
<h2 style="background: white; margin-bottom: 11.25pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">Medicine.net (2012). </span><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">Definition
of Philadelphia chromosome (Ph). Medicine.Net. retrieved March 12, 2013 from
the URL: </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%;"><a href="http://www.medterms.com/script/main/art.asp?articlekey=4870">http://www.medterms.com/script/main/art.asp?</a></span></span></span><a href="http://www.medterms.com/script/main/art.asp?articlekey=4870" style="font-family: Arial, Helvetica, sans-serif; font-size: medium;"><span style="color: windowtext; font-weight: normal; line-height: 115%;">articlekey=4870</span></a></h2>
<h1 style="background: white; margin-bottom: 4.5pt; margin-left: 0in; margin-right: 0in; margin-top: 4.5pt; vertical-align: baseline;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">Sattler, M, and Griffin JD
(2001). </span><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">Mechanisms of transformation by the BCR/ABL oncogene.
PubMed. Retrieved March 12, 2013 from the URL: </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%;"><a href="http://www.ncbi.nlm.nih.gov/pubmed/11345193">http://www.ncbi.nlm.nih.gov/pubmed/11345193</a></span></span><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;"><o:p></o:p></span></span></h1>
<h1 style="background: white; margin-bottom: 4.5pt; margin-left: 0in; margin-right: 0in; margin-top: 4.5pt; vertical-align: baseline;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH"><br /></span></span></h1>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH"><b>Photo from:</b></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH">http://t0.gstatic.com/images?q=tbn:ANd9GcQmlQCkaMf9Ke1IWKaHwd9aNTstPGrA6ftmo_LM4-weZhKg5rUe&t=1</span></span></div>
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Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-64862725876763311942013-03-12T01:03:00.010-07:002013-03-15T10:22:53.259-07:00KLINEFELTER'S SYNDROME<div class="separator" style="clear: both; text-align: center;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgNO5HU5lfi27vTw8x_GclClYfkyPB1E39EdHCeEwEfhhqB5GAXYHb07x5ei8Ss3-DL6BOiAFEbYo2MCAffMW6QhaRzyVp5TMTGYcBr0rITkYRW9uhAFlabur9By3siQZyOW2lPQqK3iYM/s1600/KLINEFELTER.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgNO5HU5lfi27vTw8x_GclClYfkyPB1E39EdHCeEwEfhhqB5GAXYHb07x5ei8Ss3-DL6BOiAFEbYo2MCAffMW6QhaRzyVp5TMTGYcBr0rITkYRW9uhAFlabur9By3siQZyOW2lPQqK3iYM/s320/KLINEFELTER.jpg" width="312" /></span></a><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiRaUj4NMCVSMyy-YBqOVWOP_UH_0z5RCZuE4009vks7iZUQsK61ESA3BG1PAGjmVOvchMp-zYjHLdE9WiS3Z5RsSnCiw2gCJHP99M4jHW_J5Qi45iEcUmiRFOSJiNiYZ8XwjSKbFkJFJA/s1600/klinefelters.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="198" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiRaUj4NMCVSMyy-YBqOVWOP_UH_0z5RCZuE4009vks7iZUQsK61ESA3BG1PAGjmVOvchMp-zYjHLdE9WiS3Z5RsSnCiw2gCJHP99M4jHW_J5Qi45iEcUmiRFOSJiNiYZ8XwjSKbFkJFJA/s200/klinefelters.jpg" width="200" /></span></a></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><b><br /></b>
<b><br /></b>
<b><br /></b>
<b><br /></b>
<br />
<b><br /></b>
<b><br /></b>
<b>Characteristics/ Phenotype</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Helvetica;">Klinefelter syndrome is
a disorder that affects only males. Males normally have an X chromosome and a Y
chromosome (XY). But males who have Klinefelter syndrome have an extra X
chromosome (XXY), giving them a total of 47 instead of the normal 46
chromosomes. </span><span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;">The syndrome can affect different stages of physical,
language and social development.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;">Not all
males with the condition have the same symptoms or to the same degree. Symptoms
depend on how many XXY cells a man has, how much</span><span lang="EN-US"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial; color: windowtext; font-size: 12pt;">testosterone</span></span><span class="apple-converted-space"><span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;">is
in his body, and his age when the condition is diagnosed. <o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">As babies, many
XXY males have weak muscles and reduced strength. They may sit up, crawl, and
walk later than other infants. After about age four, XXY males tend to be
taller and may have less<span class="apple-converted-space"> </span><span style="color: windowtext;">muscle</span><span class="apple-converted-space"> </span>control and coordination than other boys their age.<o:p></o:p></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;">As XXY males enter<span class="apple-converted-space"> </span></span><span lang="EN-US"><span style="color: windowtext; font-size: 12pt;">puberty</span></span><span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Helvetica;">,
Klinefelter syndrome patients</span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Helvetica;"> are often tall and usually don't develop
secondary sex characteristics, such as facial hair or underarm and pubic hair.
Due to extra X chromosomes, it <span style="background: white;">adversely affects
testicular growth, and this can result in smaller than normal testicles. This
leads to lower production of the sex hormone testosterone. Klinefelter syndrome
also cause reduced muscle mass, reduced body hair, and enlarged breast tissue.<o:p></o:p></span></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Helvetica;"><span style="font-family: Arial, Helvetica, sans-serif;">Some
affected individuals also have genital differences including undescended testes
(cryptorchidism), the opening of the urethra on the underside of the penis
(hypospadias), or an unusually small penis (micropenis).<o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">By adulthood, XXY
males look similar to males without the condition, although they are often
taller. They are also more likely than other men to have certain health
problems, such as<span class="apple-converted-space"> </span><span style="color: windowtext;">autoimmune</span><span class="apple-converted-space"> </span>disorders,<span class="apple-converted-space"> </span><span style="color: windowtext;">breast cancer</span>, vein diseases,<span style="color: windowtext;">osteoporosis</span>, and<span class="apple-converted-space"> </span><span style="color: windowtext;">tooth</span><span class="apple-converted-space"> </span>decay.<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">XXY males can have
normal sex lives, but they usually make little or no<span class="apple-converted-space"> </span><span style="color: windowtext;">sperm</span>. Between 95
percent and 99 percent of XXY males are<span class="apple-converted-space"> </span><span style="color: windowtext;">infertile</span><span class="apple-converted-space"> </span>because their bodies don't make a lot of sperm.<o:p></o:p></span></div>
<div class="MsoNormal" style="background: white;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Helvetica;">Many people with this disorder have no
idea they have it until they hit puberty or try to have children. When men with Klinefelter syndrome try to
have children, most discover that they are sterile because they cannot produce
sperm. Learning disabilities (not categorized as mental retardation) are also a
common problem for them.</span><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"> Patients may have trouble using language to express
themselves. </span><span lang="EN-US" style="background-position: initial initial; background-repeat: initial initial; font-size: 12pt;">They
tend to be quiet, sensitive, unassertive</span><span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"> and have trouble fitting
in</span><span lang="EN-US" style="background-position: initial initial; background-repeat: initial initial; font-size: 12pt;">, but
personality characteristics vary among affected individuals.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: FIL-PH;"><span style="font-family: Arial, Helvetica, sans-serif;">Some people with features of Klinefelter syndrome
have more than one extra sex chromosome in each cell (for example, 48,XXXY or
49,XXXXY). These conditions, which are often called variants of Klinefelter
syndrome, tend to cause more severe signs and symptoms than classic Klinefelter
syndrome. In addition to affecting male sexual development, variants of
Klinefelter syndrome are associated with intellectual disability, distinctive
facial features, skeletal abnormalities, poor coordination, and severe problems
with speech. As the number of extra sex chromosomes increases, so does the risk
of these health problems.<o:p></o:p></span></span></div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">Some people with
features of Klinefelter syndrome have the extra X chromosome in only some of
their cells; in these individuals, the condition is described as mosaic
Klinefelter syndrome (46,XY/47,XXY). Individuals with mosaic Klinefelter
syndrome may have milder signs and symptoms, depending on how many cells have
an additional X chromosome.</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><br /></span>
<b>Frequency</b></span><br />
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">Klinefelter syndrome affects 1 in 500 to 1,000 newborn
males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in
50,000 or fewer newborns.</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><br /></span>
<b>Diagnosis</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">(47, XXY)<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"> The only way to confirm the presence of an
extra chromosome is by a karyotype test. A health care provider will take a
small blood or skin sample and send it to a laboratory, where a technician
inspects the cells under a microscope to find the extra chromosome. A karyotype
test shows the same results at any time in a person's life.<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">A pregnant woman
may also undergoe chorionic villus sampling or amniocentesis These types of
prenatal testing carry a small risk for miscarriage and are not routinely
conducted unless the woman has a family history of chromosomal disorders, has
other medical problems, or is above 35 years of age.<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Cause/</b><b>s</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Klinefelter syndrome and its variants are not
inherited; these chromosomal changes usually occur as random events during the
formation of reproductive cells (eggs and sperm) in a parent. <o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">Mosaic 46,XY/47,XXY is also not inherited. It
occurs as a random event during cell division early in fetal development. As a
result, some of the body's cells have one X chromosome and one Y chromosome
(46,XY), and other cells have an extra copy of the X chromosome (47,XXY).<o:p></o:p></span></div>
<div style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<b><span style="font-family: Arial, Helvetica, sans-serif;">Treatments</span></b><br />
<span style="font-family: Arial, Helvetica, sans-serif;">It is important to
start treatment as early as possible. With treatment, most boys grow up to have
normal sex lives, successful careers and normal social relationships.
Treatments include: Educational services, Physical, speech and occupational
therapy, Medical treatments including testosterone replacement <span lang="EN-US">therapy
which is the best way to treat this disorder. Teenagers are typically given
testosterone injections to replace the hormone that would normally be produced
by the testes. Synthetic testosterone works like natural testosterone - it
builds muscle and increases hair growth.</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><br /></span>
<b>Recommendations/Advices</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="MsoListParagraphCxSpFirst" style="margin-left: 0in; mso-add-space: auto; text-align: justify;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">If you’re a parent, let your baby undergo diagnostic test to know if he
has Klinefelter or none, if he is positive, the best that you can do is to
support and give all the attention and care that the child needs.<o:p></o:p></span></span></div>
<div class="MsoListParagraphCxSpLast" style="margin-left: 0in; mso-add-space: auto; text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">Never
stop guiding your child as he grows up and always be updated of his activities.
Monitor his affliations with various people.</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><br /></span>
<b>References</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://www.medicinenet.com/klinefelter_syndrome/discussion-818.htm"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://www.medicinenet.com/klinefelter_syndrome/discussion-818.htm</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://ghr.nlm.nih.gov/condition/klinefelter-syndrome"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://ghr.nlm.nih.gov/condition/klinefelter-syndrome</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://learn.genetics.utah.edu/content/disorders/whataregd/klinefelter/"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://learn.genetics.utah.edu/content/disorders/whataregd/klinefelter/</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/diagnosed.aspx"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/diagnosed.aspx</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/treatments.aspx"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/treatments.aspx</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span lang="EN-US"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><a href="http://www.mayoclinic.com/health/klinefelter-syndrome/DS01057">http://www.mayoclinic.com/health/klinefelter-syndrome/DS01057</a></span></span></span><br />
<br />
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Photo from:</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgNO5HU5lfi27vTw8x_GclClYfkyPB1E39EdHCeEwEfhhqB5GAXYHb07x5ei8Ss3-DL6BOiAFEbYo2MCAffMW6QhaRzyVp5TMTGYcBr0rITkYRW9uhAFlabur9By3siQZyOW2lPQqK3iYM/s320/KLINEFELTER.jpg</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiRaUj4NMCVSMyy-YBqOVWOP_UH_0z5RCZuE4009vks7iZUQsK61ESA3BG1PAGjmVOvchMp-zYjHLdE9WiS3Z5RsSnCiw2gCJHP99M4jHW_J5Qi45iEcUmiRFOSJiNiYZ8XwjSKbFkJFJA/s200/klinefelters.jpg</span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<span lang="EN-US" style="font-family: "Calibri","sans-serif"; font-size: 12.0pt; mso-ansi-language: EN-US; mso-ascii-theme-font: minor-latin; mso-bidi-font-family: Arial; mso-bidi-language: AR-SA; mso-fareast-font-family: Calibri; mso-fareast-language: EN-US; mso-fareast-theme-font: minor-latin; mso-hansi-theme-font: minor-latin;"><br /></span>Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com1tag:blogger.com,1999:blog-954453551672198011.post-60424105566847621852013-03-12T01:00:00.005-07:002013-03-15T10:23:28.424-07:00BURKITT'S LYMPHOMA<br />
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Alternate name:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Burkitt's tumor, malignant
lymphoma-Burkitt's type</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
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<tr><td style="text-align: center;"><a href="http://www.ografoundation.org/projects/burkitts/before.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="http://www.ografoundation.org/projects/burkitts/before.jpg" width="257" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">endemic Burkitt's lymphoma in an African child</td></tr>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Overview:</b> Burkitt's lymphoma is a solid
tumor of<span class="apple-converted-space"> </span>B lymphocytes, caused by </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">translocation and
deregulation of the c-<em>myc</em><span class="apple-converted-space"> </span>gene on
chromosome 8. The characteristic feature of this entity is the dysregulation
and mutation of the c-<em>myc</em><span class="apple-converted-space"> </span>oncogene.
It often results from a translocation between chromosomes 8 and 14. Three
distinct forms of Burkitt lymphoma (BL) are identified: (1) endemic (African),
(2) sporadic, and (3) immunodeficiency-associated subtypes. Although these
forms differ in their clinical presentation and their epidemiology, they share
the same aggressive clinical behavior and are histologically identical.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Phenotype/Characteristics:</b> </span></span><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif;">The
symptoms of Burkitt lymphoma depend on the type. The endemic (African) variant
usually starts as tumors of the jaw or other facial bones, although it also can
affect the gastrointestinal tract, ovaries, and breasts. It also can spread to
the central nervous system, causing </span><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif;"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">nerve damage</span></span><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif;">,
weakness, and paralysis. </span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Sporadic
and immunodeficiency-associated usually start in the bowel and form a bulky
tumor mass in the </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">abdomen</span></span><span lang="EN-PH">,
often with massive involvement of the </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">liver</span></span><span lang="EN-PH">, </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">spleen</span></span><span lang="EN-PH">, and
bone marrow. These variants also can start in the ovaries, testes, or other organs,
and spread to the </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">brain</span></span><span lang="EN-PH"> and spinal fluid. <o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Other
symptoms associated with Burkitt lymphoma include:<o:p></o:p></span></span></div>
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<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Loss
of appetite</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Weight
loss</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Fatigue</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Night
sweats</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Unexplained </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><a href="http://children.webmd.com/tc/fever-age-4-and-older-topic-overview"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">fever</span></a></span></li>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Frequency:</b> 98-99 % of cases are in Africa
of the endemic variant. </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Outside of Africa, Burkitt lymphoma is rare. In the
U.S., about 1,200 people are diagnosed each year, and about 59% of patients are
over age 40. Burkitt lymphoma is especially likely to develop in people
infected with<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial;">HIV</span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">, with incidence
estimated to be 1,000 times higher in HIV-positive people than in the general
population.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis: </b>Prompt diagnosis is essential since
Brukitt lymphoma spreads so quickly.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">If
suspected, all or part of an enlarged lymph node or other suspicious disease
site will be biopsied. Additional tests may include:<o:p></o:p></span></span></div>
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<ul>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Computed
tomographic (CT) imaging of the chest, abdomen, and pelvis</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Chest
X-ray</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>PET or
gallium scan</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Bone
marrow biopsy</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Exam
of spinal fluid</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Blood
tests to measure </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><a href="http://www.webmd.com/urinary-incontinence-oab/picture-of-the-kidneys"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">kidney</span></a></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> and
liver function</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Testing
for HIV disease.</span></li>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Causes:</b><o:p></o:p></span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">The exact cause and pathophysiologic mechanisms leading to
the development of Burkitt lymphoma are not known. Malaria infection also
probably plays a role in the pathogenesis of BL, as it can lead to inhibition
of Epstein-Barr Virus-specific immune response, which has been strongly
implicated in the endemic form. The virus has antigens and factors that inhibit
the expression of anti-apoptotic proteins, leading to abnormal cell
proliferation.<o:p></o:p></span></span></div>
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<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">The classic
reciprocal translocation (85% of cases) results in the transposition of the
c-myc proto-oncogene on chromosome 8 with one of the immunoglobulin heavy chain
genes on chromosome 14, which results in activation of the c-<em>myc</em><span class="apple-converted-space"> </span>gene and is considered responsible for
tumor proliferation. Overproduction of the c-myc product may change the
lymphocytes into cancer cells, but other gene mutations may be responsible for
the progression of Burkitt lymphoma (BL).<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies:</b><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Intensive
intravenous chemotherapy is the preferred treatment for Burkitt lymphoma. Chemotherapy
drugs are usually injected directly into the cerebrospinal fluid, a treatment
known as intrathecal chemotherapy.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Examples
of drugs that may be used in various combinations for Burkitt lymphoma include:<o:p></o:p></span></span></div>
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<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext;"><span style="line-height: 18.18181800842285px;"> </span>cyclophosphamide</span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> (Cytoxan)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext;"><span style="line-height: 18.18181800842285px;"> </span>cytarabine</span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> (Cytosar-U, <span style="color: windowtext;">Tarabine</span> PFS)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext;"><span style="line-height: 18.18181800842285px;"> </span>doxorubicin</span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> (<span style="color: windowtext;">Adriamycin</span>)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext;"><span style="line-height: 18.18181800842285px;"> </span>etoposide</span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> (Etopophos, <span style="color: windowtext;">Toposar</span>, <span style="color: windowtext;">VePesid</span>)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext;"><span style="line-height: 18.18181800842285px;"> </span>methotrexate</span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> (<span style="color: windowtext;">Rheumatrex</span>)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext;"><span style="line-height: 18.18181800842285px;"> </span>vincristine</span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> (Oncovin) </span></li>
</ul>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Other
treatments for Burkitt lymphoma may include intensive chemotherapy in
combination with:<o:p></o:p></span></span></div>
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<ul>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext;"><span style="line-height: 18.18181800842285px;"> </span>Rituximab</span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> (Rituxan),
a monoclonal antibody that sticks to proteins on cancer cells and stimulates
the immune system to attack cancer cells.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Autologous
stem cell transplantation, in which the patient's stem cells are removed,
stored, and returned to the body.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="color: windowtext;"><span style="line-height: 18.18181800842285px;"> </span>Radiation</span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> therapy.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Steroid
therapy. </span></li>
</ul>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Information and support about the disease and
the adverse effects of the drugs used to treat Burkitt lymphoma (BL) should be
provided to patients and the family members, such as the following:<o:p></o:p></span></span></div>
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<ul>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Secondary
leukemias and <span style="color: windowtext; text-decoration: none; text-underline: none;">myelodysplastic
syndrome</span></span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Infertility</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Possible
anaphylactic reactions</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="line-height: 18.18181800842285px;"> </span>Serious
and potentially fatal infections</span></li>
</ul>
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<br /></div>
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<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Young patients
should be referred for counseling regarding fertility preservation, before
chemotherapy, if possible.<o:p></o:p></span></span></div>
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<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Clearly explain
transfusions (both red blood cells and platelets) and their associated
complications.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Emotional support
is very helpful to patients with cancer. Educating the medical personnel
directly involved in patient care and the family members about emotional
support for the patient is very important.<o:p></o:p></span></span></div>
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<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups: </b><o:p></o:p></span></span></div>
<h3 style="background: white; line-height: 115%; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH"><a href="https://www.google.com.ph/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&ved=0CEIQFjAA&url=http%3A%2F%2Fburkittslymphomasociety.com%2F&ei=PX4-UdP_EcfnrAeQhYH4Ag&usg=AFQjCNG6SyraqWuqb_uXjkqadORbxAozlg&bvm=bv.43287494,d.bmk&cad=rja"><em><span style="color: windowtext; font-style: normal; font-weight: normal; line-height: 115%;">Burkitt's Lymphoma</span></em><span class="apple-converted-space"><span style="color: windowtext; font-weight: normal; line-height: 115%;"> </span></span><span style="font-weight: normal; line-height: 115%;">Society</span></a></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;"><o:p></o:p></span></span></h3>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">http://burkittslymphomasociety.com/<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;">Chang, R. (2010). Burkitt’s
Lymphoma, WebMD. Retrieved March 12, 2013 from the URL: </span><span lang="EN-PH"><a href="http://www.webmd.com/cancer/burkitt-lymphoma-prognosis-diagnosis-treatments"><span style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;">http://www.webmd.com/cancer/burkitt-lymphoma-prognosis-diagnosis-treatments</span></a></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;"><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;">Kanbar, A. (2012). </span><span lang="EN-PH">Burkitt Lymphoma and Burkitt-like Lymphoma, Medscape. </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;">Retrieved March 12, 2013 from the URL: </span><span lang="EN-PH"><span style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;"><a href="http://emedicine.medscape.com/article/1447602-overview#aw2aab6b2b5aa">http://emedicine.medscape.com/article/1447602-overview#aw2aab6b2b5aa</a></span></span></span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;"><o:p></o:p></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Photo from:</b></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">http://www.ografoundation.org/projects/burkitts/before.jpg</span></span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-14533746127553639652013-03-12T00:51:00.005-07:002013-03-15T10:24:32.373-07:00WILLIAM'S SYNDROME<br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Alternate Names:</b> </span><span lang="EN-PH" style="background-color: white; line-height: 115%;">Williams–Beuren syndrome</span></span></div>
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<a href="http://25.media.tumblr.com/tumblr_lzrwoaVEio1r8lbh5o1_1280.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" height="320" src="http://25.media.tumblr.com/tumblr_lzrwoaVEio1r8lbh5o1_1280.jpg" width="320" /></a></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><b><span lang="EN-PH" style="background-color: white; line-height: 115%;"><br /></span></b></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Overview:</b> William’s syndrome is a </span><span lang="EN-PH" style="background-color: white; line-height: 115%;">a rare<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 115%;">neurodevelopmental
disorder</span> caused by the deletion of about 26 genes in the long arm of
chromosome 7. <o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Phenotype/Characteristics:</b> </span></span><span style="font-family: Arial, Helvetica, sans-serif;">The condition manifests varied
characteristics and here are the usual phenotypes:</span></div>
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<ul>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> prenatal and postnatal growth delay, short
stature</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 11.6pt; text-indent: -0.25in;"> Inward
bend of the small finger (clinodactyly)</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 11.6pt; text-indent: -0.25in;"> Sunken
chest (</span><span style="border: 1pt none windowtext; padding: 0in; text-indent: -0.25in;"><span style="font-family: Arial, Helvetica, sans-serif;">pectus excavatum</span></span><span style="font-family: Arial, Helvetica, sans-serif; line-height: 11.6pt; text-indent: -0.25in;">)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 11.6pt; text-indent: -0.25in;"> Unusual
appearance of the face (</span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 11.6pt; text-indent: -0.25in;"><span style="border: 1pt none windowtext; padding: 0in;">flattened nasal bridge</span></span><span class="apple-converted-space" style="font-family: Arial, Helvetica, sans-serif; line-height: 11.6pt; text-indent: -0.25in;"><span lang="EN-PH"> </span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; line-height: 11.6pt; text-indent: -0.25in;">with small upturned nose, long ridges in the skin that run
from the nose to the upper lip, prominent lips with an open mouth, epicanthal
folds, partially missing teeth, defective tooth enamel, or small, widely spaced
teeth</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> feeding problems (</span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">colic,<span class="apple-converted-space"> </span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"><span style="border: 1pt none windowtext; padding: 0in;">reflux</span></span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">, and
vomiting)</span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> and poor weight gain</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> recurrent middle ear infections and/or
effusions in childhood and mild-to-moderate high frequency sensorineural
hearing loss is noted in most adolescents and adults.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> visual disturbances is possible (esotropia,
cataracts, and hyperopia in as many as 50% of individuals)</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> congenital heart disease and
hypertension</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> increased urinary frequency and daytime
wetting is possible, renal abnormalities, hypercalcemia and hypercalciuria.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> delayed bone age, and decreased
insulinlike growth factor-1 (IGF1) levels, glucose tolerance or overt diabetes
mellitus may be detected in patients older than 20 years;</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> early pubertal onset may be noted.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> A history of connective tissue
abnormalities, such as abnormal joint mobility, hernias, and diverticula, is
possible.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> mild-to-moderate mental retardation,
but the range includes severe mental retardation to average intelligence.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Impaired motor development is often
apparent before age 42 months.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Early language acquisition is delayed</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Visual-spatial problems (difficulties
in handwriting, drawing, and gait apraxia)</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Interest and enthusiasm for music is
almost universal in patients with Williams syndrome, but the ability to perform
professionally is exceptional.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> As many as half of all children with
Williams syndrome may exhibit</span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">autism</span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> spectrum social and
communicative deficits.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> hyperactive, inattentive, and
hypersensitive to loud sounds or certain types of sounds.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Adults may have a high rate of emotional and
behavioral problems, poor social relationships and anxiety, preoccupations and
obsessions, phobias, panic attacks, and depression</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Few adults achieve complete
independence with daily living</span></li>
</ul>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Frequency:</b> </span><span lang="EN-PH" style="background-color: white; line-height: 115%;">Williams syndrome occurs in 1 per 7,500-20,000
births; most cases are sporadic. The deletion is equally prevalent in males and
females.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Diagnosis: </b> </span><span lang="EN-PH" style="background-color: white; line-height: 115%;">Fluorescent
in situ hybridization (FISH) for the 7q11.23 elastin gene deletion should be
performed in patients in whom Williams syndrome is suspected, in addition to a
routine chromosomal analysis (karyotype). A deletion at 7q11.23 is noted on
FISH testing in 99% of patients.<span class="apple-converted-space"> Mico-array
analysis may also be employed.</span></span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;"><span class="apple-converted-space"><br /></span></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Causes:</b> Caused by a</span><span lang="EN-PH" style="line-height: 115%;"> deletion on band 7q11.23 near the elastin gene. It is believed that the
unequal meiotic crossover events that lead to interstitial deletions resulting
in unbalanced interchromosomal and, to a lesser extent, intrachromosomal
rearrangements.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Unequal crossover resulting in Williams syndrome
have typically been thought to result from an unequal overlap of sequences
flanking the region, resulting in a type of misalignment of the chromosomal
regions during a crossover even during meiosis. A familial inversion
polymorphism in the Williams syndrome region also predisposes the chromosome to
unequal crossover during meiosis.</span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies: </b></span></span><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 115%;">Williams
syndrome is a complex multisystem medical condition that requires a
multidisciplinary team.</span></div>
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<span lang="EN-PH" style="background-color: white; line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH" style="background-color: white; line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Hypercalcemia,
which is noted in approximately 15% of patients with Williams syndrome, is frequently
asymptomatic and resolves in the first few years of life but can be lifelong.
The goal of managing calcium and vitamin D levels is to monitor and achieve
levels in the normal range for age at intakes adequate for bone growth. The
need for dietary manipulation and medication to control hypercalcemia should be
frequently monitored because long-term unrestricted use of a low calcium, low
vitamin D formula has been reported to lead to rickets in a patient with
Williams syndrome.<o:p></o:p></span></span></div>
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<span lang="EN-PH" style="background-color: white; line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH" style="background-color: white; line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Systemic
hypertension should be treated when identified.<span class="apple-converted-space"> <o:p></o:p></span></span></span></div>
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<ul>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Visual problems and hearing loss should
be periodically assessed.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Patients with short stature should have
a bone age assessment and be referred to an endocrinologist for assessment and
management of growth hormone deficiency.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Monitor for signs of precocious puberty
and arrange referrals with an endocrinologist as necessary.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Feeding difficulties in children are
common, and referral to a gastroenterologist should be considered.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Thyroid function and glucose tolerance
testing should be part of the periodic evaluation.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Early involvement of dentist is
suggested.</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> Cardiac surgery may be required to
correct cardiac malformations</span></li>
</ul>
<!--[if !supportLists]--><br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Parents of
children with Williams syndrome should be offered genetic counseling to review
their recurrence risks and options for prenatal diagnosis. If neither parent is
affected with Williams syndrome, the risk of having another affected child with
Williams syndrome is usually less than 1%. However, recurrences of Williams
syndrome have been reported, even with unaffected parents, because of apparent
germline mosaicism.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups:</b><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">William’s Syndrome Association<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><a href="http://www.williams-syndrome.org/">http://www.williams-syndrome.org/</a><o:p></o:p></span></span></div>
<h3 style="background: white; margin-bottom: .0001pt; margin: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH"><a href="https://www.google.com.ph/url?sa=t&rct=j&q=&esrc=s&source=web&cd=3&ved=0CEIQFjAC&url=http%3A%2F%2Fwww.dailystrength.org%2Fc%2FWilliams-Syndrome%2Fsupport-group&ei=Qnc-UYaBF4O0rAfckYHAAQ&usg=AFQjCNEX3TQq7cfToB53FrOZFiYJwh0CAQ&bvm=bv.43287494,d.bmk&cad=rja"><em><span style="color: #1122cc; font-style: normal;">Williams
Syndrome Support Group</span></em><span class="apple-converted-space"><span style="color: #1122cc; font-weight: normal;"> </span></span><span style="color: #1122cc; font-weight: normal;">-
DailyStrength</span></a></span><span lang="EN-PH" style="color: #222222; font-weight: normal;"><o:p></o:p></span></span></h3>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><a href="http://www.dailystrength.org/c/Williams-Syndrome/support-group">http://www.dailystrength.org/c/Williams-Syndrome/support-group</a><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Khan, A. (2012). William’s syndrome.
Retrieved March 12, 2013 from the URL: <a href="http://emedicine.medscape.com/article/893149-overview">http://emedicine.medscape.com/article/893149-overview</a><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: #eeeeee; line-height: 115%;">Genetic Science Learning Center (2012, August
6) Williams Syndrome. <em>Learn.Genetics</em>.
Retrieved March 12, 2013, from </span><span lang="EN-PH"><a href="http://learn.genetics.utah.edu/content/disorders/whataregd/williams/"><span style="background-color: #eeeeee; background-position: initial initial; background-repeat: initial initial; line-height: 115%;">http://learn.genetics.utah.edu/content/disorders/whataregd/williams/</span></a></span><span lang="EN-PH" style="background-color: #eeeeee; line-height: 115%;"><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: #eeeeee; line-height: 115%;">Pub Med Health. (2011). William’s syndrome. Pub
Med Retrieved March 12, 2013 from the URL: </span><span lang="EN-PH"><span style="background-color: #eeeeee; background-position: initial initial; background-repeat: initial initial; line-height: 115%;"><a href="http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002105/">http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002105/</a></span></span><span lang="EN-PH" style="background-color: #eeeeee; line-height: 115%;"><o:p></o:p></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Photo from:</b></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">http://25.media.tumblr.com/tumblr_lzrwoaVEio1r8lbh5o1_1280.jpg</span></span></div>
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Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-40818556812485886222013-03-12T00:49:00.004-07:002013-03-15T10:25:41.115-07:00EDWARD'S SYNDROME<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;"><br /><b>Alternate name</b><span style="font-size: small;">: Trisomy 18</span></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><br /></span>
<span lang="EN-US"><b>Characteristics/ Phenotype</b></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><b><br /></b></span>
<span lang="EN-US"></span></span><br />
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<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiqy8BinExKjv0smhqZ-PwpU2Y_ObokynvzPqTCvEtbNNJ0Ghhs2Mej-i1sahE1V6WVLFmAfVbuDXpvk-NCg47PR1qhLzj99rXxRW9zSBb5qNQxLLGngq0w1sUUPpmKMk5Bs9FuVQQK2DE/s1600/images.jpg" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiqy8BinExKjv0smhqZ-PwpU2Y_ObokynvzPqTCvEtbNNJ0Ghhs2Mej-i1sahE1V6WVLFmAfVbuDXpvk-NCg47PR1qhLzj99rXxRW9zSBb5qNQxLLGngq0w1sUUPpmKMk5Bs9FuVQQK2DE/s320/images.jpg" width="269" /></span></a><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgP5laTefVMtQsuzi5VzLkJRNN1JXkbKN8esAjDQeYSRha2CVfLXQjbzr_2NTdCrL8j6IiR7ePZ8tJFhfTsJx-uQk2kieb_fLFQjwg00q1M9f3N_6MpWj6lQurMOdOYNA9wcG0WULr31MI/s1600/edwards-syndrome3.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgP5laTefVMtQsuzi5VzLkJRNN1JXkbKN8esAjDQeYSRha2CVfLXQjbzr_2NTdCrL8j6IiR7ePZ8tJFhfTsJx-uQk2kieb_fLFQjwg00q1M9f3N_6MpWj6lQurMOdOYNA9wcG0WULr31MI/s320/edwards-syndrome3.jpg" width="242" /></span></a></div>
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<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="text-align: justify;">
<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Trisomy 18, also known as
Edward’s syndrome, is a condition which is caused by an error in cell
division, known as meiotic disjunction. <span style="background: white;"> The child develops three copies of chromosome 18 in each cell of
their body, instead of the usual two. Babies with Edward's syndrome will grow
slowly in the womb and will have a low birthweight after birth. It may lead to
severe intellectual and physical defects.<o:p></o:p></span></span></span></div>
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<span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><span style="background: white;"><br /></span></span></span></div>
<div style="background-color: white; margin: 0in 0in 0.0001pt; text-align: justify;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="background-position: initial initial; background-repeat: initial initial;">Doctors
may suspect that a baby has Edward's syndrome just by their characteristic
features, although the disease must be confirmed with genetic tests. </span>Mosaic trisomy 18
may be very severe or hardly noticeable, depending upon the number of cells that
have the extra chromosome. In rare cases, there is no extra chromosome present;
rather, a portion of the long arm of chromosome 18 becomes attached to another
chromosome during the formation of egg and sperm cells or very early in
development of the embryo. In this case, the individual has two copies of
chromosome 18 plus the additional material from chromosome 18 that is attached
to another chromosome. This is known as translocation, and the extra genetic
material causes the developmental abnormalities in the same way as the presence
of an entire extra chromosome.<span class="apple-converted-space"> </span><o:p></o:p></span></div>
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<span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">The
features of Edward’s syndrome are as follows:<o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;">Physically,
signs of Edward’s syndrome include a small, abnormally shaped head(known as
microcephaly), sometimes a strawberry shaped-head, a small jaw (known as
micrognatia) and mouth, long fingers that overlap, with short fingernails and
clenched fists, low-set ears and smooth rounded base feet. These patients also have
medical problems from mild to worst; some gets heart and kidney problems, feeding
problems in infancy, leading to poor growth, breathing problems, hernias in the
wall of their tummy, </span><span style="background: white; font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial;">part of the intestinal tract
is outside the stomach (known as omphalocele)</span><span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;">,</span><span style="background: white; font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial;">the esophagus doesn’t connect to the stomach (esophageal artesia)</span><span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;">,
bone abnormalities, such as a curved spine is also common.<o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Unfortunately,
most babies with Edward's syndrome are miscarried or stillborn.<o:p></o:p></span></span></div>
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<span lang="EN-US" style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">A third of
babies born alive will die within a month of birth because of life-threatening
medical problems. <o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span lang="EN-US" style="background-color: white;"><span style="font-family: Arial, Helvetica, sans-serif;">Only 5-10%
of babies with full Edward's syndrome survives beyond one year, and will live
with severe disabilities. Survival to adulthood is extremely rare in trisomy
18. However, a few reports have described individuals who survived to the teen
or early adult years.<o:p></o:p></span></span></div>
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<span lang="EN-US" style="background-color: white;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency</b></span></div>
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<span lang="EN-US"><span style="font-family: Arial, Helvetica, sans-serif;">Trisomy 18 occurs in about 1 in 5,000-6,000 live-born
infants. Although women of all ages can have a child with trisomy 18, the
chance of having a child with this condition increases as a woman gets older.<span style="background: white;"> Up to 95% of fetuses with trisomy 18 die in the
prenatal period (prior to delivery). Girls are affected more commonly than
boys.</span></span></span></div>
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<span lang="EN-US"><span style="background: white;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></span></div>
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<span lang="EN-US"><span style="background: white;"><b><span style="font-family: Arial, Helvetica, sans-serif;">Diagnosis</span></b></span></span></div>
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<span lang="EN-US"><span style="background: white;"><span style="font-family: Arial, Helvetica, sans-serif;"></span></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;">(47, XY, +18) or (47, XX,
+18)<o:p></o:p></span></span></div>
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</span><br />
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<span style="font-family: Arial, Helvetica, sans-serif;">
</span><br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;">Can be diagnosed through:<o:p></o:p></span></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;">
<span lang="EN-US">Karyotyping,
</span><span lang="EN-US">Prenatal testing</span><span class="apple-converted-space"><span lang="EN-US"> </span></span><span lang="EN-US">for trisomy 18, Screening tests such as
measurement of alpha fetoprotein (AFP) levels (sometimes referred to as a<span class="apple-converted-space"> </span></span><span lang="EN-US">triple screen</span><span lang="EN-US">), </span><span lang="EN-US">Ultrasound</span><span class="apple-converted-space"><span lang="EN-US">, </span></span><span lang="EN-US">Analysis of fetal chromosomal material obtained
during<span class="apple-converted-space"> </span></span><span lang="EN-US">amniocentesis</span><span class="apple-converted-space"><span lang="EN-US"> </span></span><span lang="EN-US">or </span><span lang="EN-US">chorionic villus sampling</span><span class="apple-converted-space"><span lang="EN-US">.</span></span></span><br />
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<span lang="EN-US"><span style="background: white;"><span class="apple-converted-space"><span lang="EN-US"><b><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></b></span></span></span></span></div>
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<span lang="EN-US"><span style="background: white;"><span class="apple-converted-space"><span lang="EN-US"><span lang="EN-US"><b><span style="font-family: Arial, Helvetica, sans-serif;">Cause/s</span></b></span></span></span></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><span style="background: white;"><span class="apple-converted-space"><span lang="EN-US"><span lang="EN-US"><span lang="EN-US" style="background-position: initial initial; background-repeat: initial initial; font-size: 12pt;">Trisomy 18 is not an inherited condition; it
occurs as the result of random events during </span></span></span></span></span></span><span lang="EN-US" style="background-color: white;">egg and sperm formation. The type of error that
occurs is known as<span class="apple-converted-space"> </span></span><span lang="EN-US"><span style="background: white;">nondisjunction</span><span style="background: white;">,
and this leads to an egg or sperm cell with an abnormal number of chromosomes.</span></span></span></div>
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<span style="background-color: white;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span style="background-color: white;"><b><span style="font-family: Arial, Helvetica, sans-serif;">Treatments/ Recommendations</span></b></span></div>
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<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">There is no cure for
Edward's syndrome and the symptoms can be very difficult to manage. You are
likely to need help from a wide range of different health professionals.<o:p></o:p></span></span></div>
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<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Your child may benefit
from physiotherapy and occupational therapy, if limb abnormalities affect their
movements. They may need to be fed through a feeding tube.<o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;">If infections arise,
it may be treated.<span lang="EN-US"><span style="background: white;"> Transfusions</span> may be made<span class="apple-converted-space"><span style="background: white;"> </span></span><span style="background: white;">for low blood cell counts, and medications such as
diuretics and/or<span class="apple-converted-space"> </span></span><span style="background: white;">digoxin</span><span class="apple-converted-space"><span style="background: white;"> </span></span><span style="background: white;">to
manage<span class="apple-converted-space"> </span></span></span><span lang="EN-US"><span style="background: white; font-size: 12.0pt; mso-bidi-font-family: Arial;">heart
failure</span></span><span lang="EN-US" style="background-color: white;">.<span class="apple-converted-space"> </span></span><span style="background-color: white;"> </span></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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</div>
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<span style="font-size: 12.0pt; mso-ansi-language: FIL-PH; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">As a parent carer, it's
important that you look after your own health and wellbeing first before you
commit to nurse your baby.<o:p></o:p></span></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-size: 12pt;">Measures
that can be done</span><span lang="EN-US" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-size: 12pt;"> includes nutritional support to your child and
sincere love and care.</span></span><br />
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<span lang="EN-US" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-size: 12pt;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-US" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-size: 12pt;"><b><span style="font-family: Arial, Helvetica, sans-serif;">References</span></b></span></div>
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<span lang="EN-US" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-size: 12pt;"><span style="font-family: Arial, Helvetica, sans-serif;"></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://www.medicinenet.com/caregiving/article.htm"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://www.medicinenet.com/caregiving/article.htm</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
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</span><br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://www.nhs.uk/conditions/edwards-syndrome/Pages/Introduction.aspx"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://www.nhs.uk/conditions/edwards-syndrome/Pages/Introduction.aspx</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;">
</span><br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><a href="http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis"><span style="font-size: 12.0pt; mso-bidi-font-family: Arial;">http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis</span></a></span><span lang="EN-US" style="font-size: 12.0pt; mso-bidi-font-family: Arial;"><o:p></o:p></span></span></div>
<span style="font-family: Arial, Helvetica, sans-serif;">
<span lang="EN-US"><br />
<span style="background-position: initial initial; background-repeat: initial initial;">Genetic and Rare Diseases Information Center
(GARD). "Trisomy 18." NIH Office of Rare Diseases Research.
<http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&DiseaseID=6321>.</span><br />
<br />
<span style="background-position: initial initial; background-repeat: initial initial;">Genetics Home Reference. "Trisomy 18."
U.S. National Library of Medicine. 30 Jan. 2012. <http://ghr.nlm.nih.gov/condition/trisomy-18>.</span><br />
<br />
<span style="background-position: initial initial; background-repeat: initial initial;">"What Is Trisomy 18?" Trisomy 18
Foundation. 2010.
<http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis>.</span></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><span style="background-position: initial initial; background-repeat: initial initial;"><br /></span></span></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><span style="background-position: initial initial; background-repeat: initial initial;"><b>Photos from:</b></span></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><span style="background-position: initial initial; background-repeat: initial initial;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiqy8BinExKjv0smhqZ-PwpU2Y_ObokynvzPqTCvEtbNNJ0Ghhs2Mej-i1sahE1V6WVLFmAfVbuDXpvk-NCg47PR1qhLzj99rXxRW9zSBb5qNQxLLGngq0w1sUUPpmKMk5Bs9FuVQQK2DE/s320/images.jpg</span></span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-US"><span style="background-position: initial initial; background-repeat: initial initial;">https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgP5laTefVMtQsuzi5VzLkJRNN1JXkbKN8esAjDQeYSRha2CVfLXQjbzr_2NTdCrL8j6IiR7ePZ8tJFhfTsJx-uQk2kieb_fLFQjwg00q1M9f3N_6MpWj6lQurMOdOYNA9wcG0WULr31MI/s320/edwards-syndrome3.jpg</span></span></span><br />
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Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-51344575290331574102013-03-12T00:40:00.002-07:002013-03-15T10:26:23.659-07:00TRUE HERMAPHRODITISM<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
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<span style="font-family: Arial, Helvetica, sans-serif;"><b>Overview:</b> <span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;">Disorders of sexual development (DSD), formerly termed
intersex conditions, reflect the chromosomal sex or the gonadal tissue associated
with the disorder. </span><span lang="EN-PH" style="background-color: #fdfefe; background-position: initial initial; background-repeat: initial initial;">Intersex individuals display genetic, and sometimes
physical, signs of both male and female sexes.</span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: #fdfefe; background-position: initial initial; background-repeat: initial initial;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 4.8pt;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;">True hermaphroditism</span><span class="apple-converted-space"><span lang="EN-PH" style="line-height: 115%;"> </span></span><span lang="EN-PH" style="line-height: 115%;">is a medical term
for an<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="line-height: 115%;">intersex</span></span><span class="apple-converted-space"><span lang="EN-PH" style="line-height: 115%;"> </span></span><span lang="EN-PH" style="line-height: 115%;">condition in which
an individual is born with<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="line-height: 115%;">ovarian</span></span><span class="apple-converted-space"><span lang="EN-PH" style="line-height: 115%;"> </span></span><span lang="EN-PH" style="line-height: 115%;">and<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="line-height: 115%;">testicular</span></span><span class="apple-converted-space"><span lang="EN-PH" style="line-height: 115%;"> </span></span><span lang="EN-PH" style="line-height: 115%;">tissue.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 4.8pt;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="line-height: 115%;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 4.8pt;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">There may be an
ovary underneath each testicle on the other, but more commonly one or both
gonads is an<span class="apple-converted-space"> </span>ovotestis<span class="apple-converted-space"> </span>containing both types of tissue.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 4.8pt;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 4.8pt;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">There are no
documented cases in which both types of gonadal tissue function.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 4.8pt;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="separator" style="clear: both; text-align: center;">
<a href="http://www.scielo.br/img/revistas/ibju/v33n1/1a11f01.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="247" src="http://www.scielo.br/img/revistas/ibju/v33n1/1a11f01.jpg" width="320" /></span></a></div>
<div style="background: white; line-height: 115%; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 4.8pt;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Characteristic/Phenotype:</b> </span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-family: Arial, Helvetica, sans-serif;">In this condition
gonads are asymmetrical having both ovarian and testicular differentiation on
either sides separately or combined as ovotestis. </span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-family: Arial, Helvetica, sans-serif;">Ovotestes are the most
frequent gonad present (60%), followed by the ovary and then the testis (9%). </span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-family: Arial, Helvetica, sans-serif;">90% of cases, patients have 46 XX
karyotype. </span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-family: Arial, Helvetica, sans-serif;">Other encountered<span class="apple-converted-space"> </span>karyotypes<span class="apple-converted-space"> </span>are 47XXY, 46XX/46XY, or 46XX/47XXY,
and various degrees of mosaicism.</span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency:</b> </span></span><span style="background-color: white; font-family: Arial, Helvetica, sans-serif;">Ovotesticular disorder of sexual development is a rare
condition. Genital ambiguity occurs in 1 in 4,500 births, and ovotesticular
disorder of sexual development occurs in fewer than 10% of all disorders of
sexual development. More than 400 cases have been reported worldwide.</span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis:</b> </span></span><span style="font-family: Arial, Helvetica, sans-serif;">A thorough physical
examination is mandatory.</span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 9.0pt;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 9.0pt;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Newborn period: When faced with the delivery
of an infant with genital ambiguity, the physician must determine if the
newborn is a virilized female, an undermasculinized male, or a rare person with
ovotesticular disorder of sexual development. Physical examination should focus
on the following considerations: genetic stigmata, skin pigmentation, and genital
examination<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Pubertal period: Aside from the physical
examination findings discussed in the newborn section, pay special attention to
the following: sexual hair distribution, presence of uterus and vagina, phallus
length, labioscrotal fusion, and breast development.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 9.0pt;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Cytogenetic investigation with hormonal
evaluation and study </span><span lang="EN-PH" style="background-position: initial initial; background-repeat: initial initial;">of androgen target cells must also be done as laboratory
tests. An amniocentesis following prenatal ultrasonography showing ambiguous
genitalia may reveal a 46,XX, 46,XX/46,XY or 46,XX/47,XXY karyotype, providing
a hint to the diagnosis.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Causes:</b> </span></span><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">It can
be caused by the division of one ovum, followed by fertilization of each
haploid ovum and fusion of the two zygotes early in development.</span></div>
<ul type="disc">
<li class="MsoNormal" style="background: white; margin-bottom: 1.2pt; mso-list: l0 level1 lfo1; mso-margin-top-alt: auto;"><span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Alternately, an ovum can be fertilized
by two sperm followed by <a href="http://en.wikipedia.org/wiki/Trisomic_rescue" title="Trisomic rescue"><span style="color: windowtext; text-decoration: none; text-underline: none;">trisomic
rescue</span></a> in one or more daughter cells.<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; margin-bottom: 1.2pt; mso-list: l0 level1 lfo1; mso-margin-top-alt: auto;"><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Two ova fertilized by two sperm will
occasionally fuse to form a tetragametic </span><span lang="EN-PH"><a href="http://en.wikipedia.org/wiki/Chimera_(genetics)" title="Chimera (genetics)"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">chimera</span></a></span><span lang="EN-PH">. If one male zygote and one female
zygote fuse, a hermaphroditic individual may result.<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; margin-bottom: 1.2pt; mso-list: l0 level1 lfo1; mso-margin-top-alt: auto;"><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">It can be associated with mutation in
the </span><span lang="EN-PH"><a href="http://en.wikipedia.org/wiki/SRY" title="SRY"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">SRY</span></a></span><span lang="EN-PH"> gene.<o:p></o:p></span></span></li>
</ul>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies:</b> </span></span><span style="background-color: white; font-family: Arial, Helvetica, sans-serif;">Sex hormone replacement might be required for those with
pubertal delay.</span></div>
<div class="MsoNormal">
<span style="background-color: white; font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Most patients with genital ambiguity require surgical exploration
for diagnostic confirmation and removal of contradictory gonadal tissue.
Surgery has sometimes been performed to alter the appearance of the genitals.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Because of the complexities surrounding gender
assignment/reassignment, use of an experienced team is the best approach. Many
patients have expressed the sentiment that decisions concerning surgery on the
external genitalia should not be made without the understanding and consent of
the affected person. Because of the complexity and ramifications of this
decision, the clinician must approach the issue in concert with the family in a
compassionate and thoughtful manner.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">All should be comfortable with the gender assignment
decision, which depends on the diagnostic evaluation results. Gender assignment
in the newborn period should be based on the individual's potential for normal
sexual function and the potential for future reproductive function.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Identity and self-esteem issues in the adolescent age group
make psychological support of utmost importance in case gender reassignment
surgery is decided.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups:</b><o:p></o:p></span></span></div>
<h1 style="background: white; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%;"><a href="http://www.mdjunction.com/hermaphroditism">Hermaphroditism
Support Group</a></span></span></span></h1>
<h1 style="background: white; margin-top: 0in;">
<a href="http://www.mdjunction.com/hermaphroditism" style="background-color: transparent;"><span style="font-family: Arial, Helvetica, sans-serif; font-size: small;">http://www.mdjunction.com/hermaphroditism</span></a></h1>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">I am a True Hermaphrodite<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><a href="http://www.experienceproject.com/groups/Am-A-True-Hermaphrodite/140456">http://www.experienceproject.com/groups/Am-A-True-Hermaphrodite/140456</a><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<h1 style="background: white; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 12.0pt; vertical-align: baseline;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">Iqbal, M et al. (2011). </span><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">True
Hermaphrodite: A Case Report. Retrieved March 12, 2013 from the URL: </span><span lang="EN-PH"><a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418019/"><span style="color: windowtext; font-weight: normal; line-height: 115%;">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418019/</span></a></span><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;"><o:p></o:p></span></span></h1>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Hutcheson, J. (2012) Ambiguous genitalia
and Intersexuality. Retrieved March 12, 2013 from the URL: <a href="http://emedicine.medscape.com/article/1015520-overview">http://emedicine.medscape.com/article/1015520-overview</a><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif;">Dayal, M. (2012). Ovotesticular Disorder
for Sexual Development. Retrieved March 12, 2013 from the URL: <a href="http://emedicine.medscape.com/article/256289-overview">http://emedicine.medscape.com/article/256289-overview</a><o:p></o:p></span><br />
<span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif;">Photo from:</span><br />
<span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif;">http://www.scielo.br/img/revistas/ibju/v33n1/1a11f01.jpg</span><br />
<span lang="EN-PH"><br /></span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-48447470573246511902013-03-12T00:34:00.005-07:002013-03-15T10:27:03.162-07:00CAT EYE SYNDROME<br />
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Alternate Names:</b> </span><span lang="EN-PH" style="background-color: white;">Schmid-Fraccaro
syndrome<b><o:p></o:p></b></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white;"><br /></span></span></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="http://jmg.bmj.com/content/40/5/e62/F1.large.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="http://jmg.bmj.com/content/40/5/e62/F1.large.jpg" width="307" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;"><span style="background-color: #eeeeee; color: #333333; font-family: arial, sans-serif; font-size: 12px; line-height: 16.796875px; text-align: left;">Boy with cat eye syndrome (A) at the age of 3 weeks and (B) at the age of 8 months. Ophthalmological examination at the age of 13 months: (C) the anterior segment, here in the right eye (in miosis) showing inferior nasal iris coloboma. (D) Funduscopy of the left eye. Retinal and uveal coloboma, optic nerve head, and macula are not visible in the depth of the coloboma.</span></td></tr>
</tbody></table>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white;"><br /></span></span></div>
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<span lang="EN-PH" style="background-color: white;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Overview:</b> Cat Eye syndrome is a rare chromosomal
disorder wherein the short arm and a small region of the long arm of chromosome
22 are present either three or four times (trisomy or terasomy) rather than
twice in normal body cells. <b><o:p></o:p></b></span></span></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Characteristic/Phenotype: </b></span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;">As
what the name suggest, the most distinctive trait of the person with the
disease is the partial absence of ocular tissue (coloboma), often affecting
both eyes (bilateral) which is surprisingly found only in some affected
individuals. Other distinctive phenotypes include absence (atresia) of the anal
canal, with an abnormal passage (fistula) from the end portion of the large
intestine (rectum) into abnormal locations (e.g., the<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial;">bladder</span></span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;">,<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial;">vagina</span></span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;">, or perineum) and
misshapen<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial;">ears</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"> </span></span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;">with abnormal
outgrowths of<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial;">skin</span></span><span class="apple-converted-space"><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"> </span></span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;">and small
depressions in front of the outer ears (preauricular tags and pits). These
three traits occur only on 41 % of afflicted individuals. <o:p></o:p></span></span></div>
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<span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><span style="font-family: Arial, Helvetica, sans-serif;">Other inconstant features include:<o:p></o:p></span></span></div>
<div class="MsoListParagraphCxSpFirst" style="mso-list: l0 level1 lfo1; text-indent: -.25in;">
</div>
<ul>
<li><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">mild hypertelorism</span><span lang="EN-PH" style="background-color: white; color: #666666; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">(widely spaced eyes)</span><span lang="EN-PH" style="background-color: white; color: #666666; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">with downslanting palpebral fissures</span></li>
<li><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">cardiac defects</span></li>
<li><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">cleft palate</span></li>
<li><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">urinary tract anomalies (</span><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">missing, extra, or underdeveloped kidneys)</span></li>
<li><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">skeletal anomalies</span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Moderate intellectual deficit (present among 32% of patients</span></li>
<li><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 14.4pt;">Short stature</span></li>
</ul>
<br />
<ul type="disc">
<li><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 14.4pt;"><span style="text-decoration: none;">Scoliosis</span></span><span lang="EN-PH" style="background-color: white; line-height: 14.4pt;">/Skeletal problems</span></span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 14.4pt;"><span style="text-decoration: none;">Micrognathia</span></span><span lang="EN-PH" style="background-color: white; line-height: 14.4pt;"> (smaller jaw)</span></span></li>
<li><span style="text-decoration: none;"><span style="font-family: Arial, Helvetica, sans-serif;">Hernias</span></span></li>
<li><span style="text-decoration: none;"><span style="font-family: Arial, Helvetica, sans-serif;">Cleft palate</span></span></li>
</ul>
<ul type="disc">
</ul>
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<br /></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency:</b> <span style="background-color: white; background-position: initial initial; background-repeat: initial initial;">The estimated prevalence in the general population is 1 in 74
000. Transmission is possible through both sexes, with a risk of transmission
to the offspring of about 50%.</span><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><br /></span></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis:</b> Karyotyping shows a marker
indicated by a small supernumerary chromosome at the proximal part of
chromosome 22. The marker is bicentric and bisatellited and results from an
inverted duplication, seen in 5/6 cases, which makes it the most reliable
diagnostic criterion for this syndrome. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><span style="font-family: Arial, Helvetica, sans-serif;">Antenatal
diagnosis is possible through karyotyping and Fluorescence<span class="apple-converted-space"> </span><span class="italictext"><i>In Situ</i></span><span class="apple-converted-space"> </span>Hybridization (FISH) analysis of
prenatal samples.<o:p></o:p></span></span></div>
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<span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Causes: </b></span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;">The
abnormally duplicated chromosomal material from the long arm of chromosome 22
(band q11)is caused by the inverted duplication which occurs de novo forming a
small, supernumerary chromosome (a marker chromosome).</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Additional Information:</b> <span style="background-color: white; background-position: initial initial; background-repeat: initial initial;">The marker chromosome is often present in
a mosaic state.<span class="apple-converted-space"> <o:p></o:p></span></span></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;">No
correlations have been identified between the severity of the intellectual
deficit and the presence of malformations, and the degree of the mosaicism or
the size of the duplication. However, patients carrying small chromosome 22
markers containing no euchromatin display no associated phenotype.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><br /></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Treatment/Recommendations/Therapies:</b> </span><span lang="EN-PH">Complications associated with the syndrome can be treated,
and a great deal can be done to provide support and compensate for
disabilities. Evaluation and follow-up of people with cat eye syndrome
comprises thorough examination of all parts of the body that may be affected. <span style="color: #333333;"><o:p></o:p></span></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">The
heart is examined using ultrasound (echocardiography). A paediatric
cardiologist will decide on how to proceed with treatment. Some heart defects
require surgical intervention. Children with heart defects should be monitored
regularly.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Ultrasound
examination is also used to evaluate the kidneys. Paediatric medical follow-up
should be continued through childhood so that renal impairment can be detected
as early as possible.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Children
with anal atresia require early surgical intervention. Treatment and follow-up
should be carried out in close cooperation with a pediatric medical clinic. <o:p></o:p></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Urinary
tract abnormalities are evaluated by a paediatric urologist, who will decide on
treatment and assess the need for surgery.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">An
ophthalmologist uses several different examination methods and tests to
identify any eye abnormalities and corresponding vision problems. Visually
impaired children learn to optimise remaining vision by using visual aids and
some may also find it helpful to learn other communication techniques, such as
Braille.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Clefting
requires surgical repair. Parents of children who have problems sucking and
eating require early contact with a dietician and a speech therapist to
establish good feeding routines.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Surgery
is used to open and widen blocked nasal passages. <o:p></o:p></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">In
order to stimulate the child’s development and compensate for loss of function,
the child and the family also require early contact with a team composed of
professionals with special expertise in how disability affects everyday life,
health and development. <o:p></o:p></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Support
and treatment cover medical, educational, psychological, social and technical
areas and are intended both to help the child develop fully and to help
compensate for any disabilities. <o:p></o:p></span></span></div>
<div style="background: white; line-height: 18.0pt; margin-bottom: 15.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Psychological
evaluation is important for assessing the child’s developmental level,
especially before starting school. Children with intellectual disability
require special education, adapted to meet their needs. Speech, language and
communication training is an important part of their education. A child with
communication problems can be helped by an occupational therapist, a speech
pathologist and a special education teacher, all contributing to the process of
evaluating and trying out augmentative and alternative communication.<span style="color: #333333;"><o:p></o:p></span></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Genetic counselling is advisable for reproductive
decisions.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups:</b><o:p></o:p></span></span></div>
<h1>
<span lang="EN-PH" style="color: #451d80; line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif; font-size: small;">Support
for<span class="apple-converted-space"> </span><span class="auto-style7">Disorders
of</span> <span class="auto-style7">Chromosome 22<o:p></o:p></span></span></span></h1>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">http://www.c22c.org/ces.htm<o:p></o:p></span></span></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<h1 style="margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="line-height: 115%;"><span style="font-weight: normal;">Turleau, C. (2005).</span> </span><span lang="EN-PH" style="color: #21528a; line-height: 115%;">Cat-eye syndrome. Retrieved March 12, 2013 from the URL: </span><span lang="EN-PH"><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195"><span style="line-height: 115%;">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195</span></a></span><span lang="EN-PH" style="color: #21528a; line-height: 115%;"><o:p></o:p></span></span></h1>
<h1 style="background: white; line-height: 12.0pt; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH"><span style="font-weight: normal;">NORD, Rare
Disease Information. (2010).</span> </span><span lang="EN-PH" style="color: #224c9e; text-transform: uppercase;">CAT EYE SYNDROME. </span><span lang="EN-PH" style="color: #21528a;">Retrieved March 12, 2013 from the URL: </span><span lang="EN-PH"><a href="http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1085/viewAbstract">http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1085/viewAbstract</a></span><span lang="EN-PH" style="color: #21528a;"><o:p></o:p></span></span></h1>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Anneren, G. and Blennow, E. (2012). </span><b><span lang="EN-PH" style="background: white; color: #383a44; mso-bidi-font-family: Arial;">Cat
eye syndrome. </span></b><span lang="EN-PH" style="color: #21528a; mso-bidi-font-family: Arial;">Retrieved March 12, 2013 from the URL: </span><span lang="EN-PH"><a href="http://www.socialstyrelsen.se/rarediseases/cateyesyndrome">http://www.socialstyrelsen.se/rarediseases/cateyesyndrome</a></span></span><span lang="EN-PH" style="color: #21528a; mso-bidi-font-family: Arial;"><o:p></o:p></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><b>Photo from:</b></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;">http://jmg.bmj.com/content/40/5/e62/F1.large.jpg</span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-28025528528468151762013-03-12T00:25:00.001-07:002013-03-15T10:27:52.013-07:00FRAGILE X SYNDROME<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Alternate Names:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Martin-Bell syndrome or
marker X syndrome<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="http://healthlineinfo.com/wp-content/uploads/2012/10/Fragile_x_syndrom.png" imageanchor="1" style="margin-left: auto; margin-right: auto;"><span style="font-family: Arial, Helvetica, sans-serif;"><img border="0" height="320" src="http://healthlineinfo.com/wp-content/uploads/2012/10/Fragile_x_syndrom.png" width="262" /></span></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;"><span style="font-family: Arial, Helvetica, sans-serif; font-size: small;">Patient afflicted with Fragile X Syndrome</span></td></tr>
</tbody></table>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><b>Overview: </b>The most common cause of inherited mental
retardation, intellectual disability, and autism and is the second most common
cause of genetically associated mental deficiencies after trisomy 21. It
results from mutations in a gene on the X chromosome that makes the protein
needed for brain development. </span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Characteristic/Phenotype:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH;">Symptoms of Fragile X
syndrome often vary depending on the extent of the change in the</span><span lang="EN-PH"> <i>FMR1</i> <span style="background: white;">gene and other factors. Some common symptoms are:</span></span><span lang="EN-PH"><o:p></o:p></span></span></div>
<ul type="disc">
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; tab-stops: list .5in;"><span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Developmental and intellectual
disabilities or learning disabilities<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; tab-stops: list .5in;"><span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Anxiety, especially in new situations,
problems in paying attention, and aggressive behavior<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; tab-stops: list .5in;"><span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Trouble speaking clearly<o:p></o:p></span></span></li>
<li class="MsoNormal" style="background: white; mso-list: l0 level1 lfo1; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto; tab-stops: list .5in;"><span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Sensitivity to bright lights, loud
noises, or other sensations<o:p></o:p></span></span></li>
</ul>
<div class="MsoNormal" style="background: white; mso-margin-bottom-alt: auto; mso-margin-top-alt: auto;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Physical manifestations
include:<o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
</div>
<ul>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">Childhood growth
is marked by an early growth spurt.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">a long, thin face
with prominent ears, facial asymmetry, a head circumference higher than the
50th percentile, and a prominent forehead and jaw.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">The mouth has
dental overcrowding and a high-arched palate.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">Ears are typically
large and may protrude.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">Strabismus is
frequently noted. Ocassionally, nystagmus, astigmatism, and ptosis are present.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">Hands and feet
manifest nonspecific findings, including hyperextensible finger joints, hand
calluses, double-jointed thumbs, a single palmar crease, and pes planus.
Clubfeet may be present at birth.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">Pectus excavatum
and scoliosis are frequent findings.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">Macroorchidism is
nearly universal in postpubertal males. During childhood, an increased
incidence of inguinal hernias is reported.</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">A heart murmur or
click consistent with mitral valve prolapse is often auscultated.</span></li>
</ul>
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Frequency: </b>A</span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">bout 1 of every 4,000 males
and 1 of every 8,000 females has Fragile X syndrome. The prevalence of female
carrier status has been estimated to be as high as 1 in 130-250 population; the
prevalence of male carrier status is estimated to be 1 in 250-800 population.
As many as 10% of cases of previously undiagnosed mental retardation in males
and 3% of cases of previously undiagnosed mental retardation in females are
attributed to fragile X syndrome.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis:</b> </span></span><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 115%;">DNA testing for
fragile X syndrome is recommended, since cytogenetic testing is not as
sensitive as molecular testing. Karyotyping may also be considered along with
molecular diagnosis.</span></div>
<div class="MsoNormal">
<span style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 115%;"><br /></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Southern blot
analysis provides a more accurate estimation of the number of CGG triplet
repeats if a full mutation is present (with a large CGG expansion) while PCR
more accurately estimates the number of CGG triplet repeats if a premutation is
present (with small-to-moderate increases in CGG repeats). <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Causes: </b>The </span><span lang="EN-PH">distal end of the long arm of the X
chromosome contains the fragile X mental retardation-1 (<em>FMR1</em>)
gene which is used to synthesize fragile X mental retardation protein (FMRP), a
regulatory protein that binds messenger RNA (mRNA) in neurons and dendrites.</span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">In
patients with a full mutation in the<span class="apple-converted-space"> </span><em>FMR1</em><span class="apple-converted-space"> </span>gene, FMRP is not manufactured because
of hypermethylation of<span class="apple-converted-space"> </span><em>FMR1</em>,
and brain development is impaired primarily because of abnormal synapse
connections. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">The mutated gene
was also discovered to contain a repeating base pair triplet (CGG) expansion,
which is responsible for fragile X syndrome</span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Unaffected
individuals have 5-54 CGG repeats, whereas affected individuals have 200 or
more repeats as a full mutation. Full mutation results in hypermethylation of
the cysteine bases and restricts protein binding, leading to gene inactivation
and absent FMRP. <o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Although most
patients with fragile X syndrome have a CGG triplet expansion, few patients
have a point mutation in the<span class="apple-converted-space"> </span><em>FMR1</em><span class="apple-converted-space"> </span>gene or a deletion of the gene. No
spontaneous<span class="apple-converted-space"> </span><em>FMR1</em><span class="apple-converted-space"> </span>full mutations have been reported</span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Additional Data:</b>
Mosaic patterns are common. The number of repeats is unstable from generation
to generation, making the pattern of inheritance difficult to predict. In
addition, the degree of methylation is directly proportional to the signs and
symptoms of fragile X syndrome.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies: </b></span></span><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 115%;">A comprehensive
developmental evaluation by a speech and language therapist, physical
therapist, and occupational therapist is recommended to assess weaknesses and
to identify areas in which improvement is needed most. Appropriate intervention
strategies will be employed to facilitate learning. As the patient matures,
repeat evaluation may be necessary.</span></div>
<div class="MsoNormal">
<span style="background-color: white; font-family: Arial, Helvetica, sans-serif; line-height: 115%;"><br /></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">A behavioral intervention/modification team can
identify specific areas of focus to encourage normal activities such as social
eye contact and stress reduction training.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;">A special education professional is appropriate to
assess the level of cognitive functioning, attention deficit hyperactivity
disorder (ADHD) symptoms, and aggressiveness and to initiate sensory
integration therapy for behavior problems.</span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Also, a psychology or behavioral specialist is
important to assist families with methods for decreasing negative behavior.
Additionally, some patients with fragile X syndrome benefit from social
skills–oriented therapy and individual counseling.<o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Routine auditory
examinations are advised; otolaryngology referral for chronic otitis media and
evaluation for pressure equalization (PE) tube placement are recommended and also
to cardiologists and orthopaedic surgeons to periodically check systems which
may have malformed.</span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 7.5pt; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Genetic counseling is important to inform patients
and families and to assist with family planning and reproducive decisions.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 9.0pt; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups:</b><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">National Fragile X Foundation<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><a href="http://www.fragilex.org/">http://www.fragilex.org/</a><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Fraxa Research Foundation<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">http://www.fraxa.org/default.aspx?gclid=CIGu_vbC9bUCFcV56wodjBAA0Q<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<h1 style="background: white; margin-bottom: 3.75pt; margin-left: 0in; margin-right: 0in; margin-top: 3.75pt;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="color: windowtext; line-height: 115%;"><span style="font-weight: normal;">National Institute of Child
Health and Human Development. (2012). </span></span><span style="font-weight: normal;"><span lang="EN-PH" style="color: windowtext; line-height: 115%;">Fragile X Syndrome: Condition Information. Retrieved March
12, 2013 from the URL: </span><span lang="EN-PH"><span style="color: windowtext; line-height: 115%;"><a href="http://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/default.aspx">http://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/default.aspx</a></span></span></span></span></h1>
<h1 style="background: white; margin-bottom: 3.75pt; margin-left: 0in; margin-right: 0in; margin-top: 3.75pt;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="color: windowtext; font-family: Arial, Helvetica, sans-serif; font-size: x-small; font-weight: normal; line-height: 115%;">Genetics Home
Reference. (2011) Fragile X syndrome. </span><span lang="EN-PH" style="color: windowtext; font-family: Arial, Helvetica, sans-serif; font-size: x-small; font-weight: normal; line-height: 115%;"><span style="font-weight: normal;">Retrieved March 12, 2013 from the URL:</span> </span><span lang="EN-PH" style="font-weight: normal;"><span style="color: windowtext; line-height: 115%;"><a href="http://ghr.nlm.nih.gov/condition/fragile-x-syndrome">http://ghr.nlm.nih.gov/condition/fragile-x-syndrome</a></span></span></span></h1>
<h1 style="background: white; margin-top: 0in;">
<span lang="EN-PH" style="background-color: transparent; font-family: Arial, Helvetica, sans-serif; font-size: small; font-weight: normal;">Jewell, J. (2013). Fragile X Syndrome. </span><span lang="EN-PH" style="background-color: transparent; font-family: Arial, Helvetica, sans-serif; font-size: small; font-weight: normal;">Retrieved March 12, 2013 from the
URL: http://emedicine.medscape.com/article/943776-overview</span></h1>
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<span style="font-family: Arial, Helvetica, sans-serif;">Photo from:</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;">http://healthlineinfo.com/wp-content/uploads/2012/10/Fragile_x_syndrom.png</span></div>
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Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-47790527741755692452013-03-12T00:16:00.004-07:002013-03-15T10:28:36.510-07:00DELETION 18<br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Alternate Names:</b> Distal 18q- and proximal
18q- collectively and originally known as </span><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;">De Grouchy syndrome</span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><br /></span></span></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="http://www.molecularcytogenetics.org/content/figures/1755-8166-1-18-1.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="320" src="http://www.molecularcytogenetics.org/content/figures/1755-8166-1-18-1.jpg" width="218" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;"><strong style="background-color: white; border: 0px; color: #474848; font-family: Verdana; font-size: 12px; line-height: 16px; margin: 0px; outline: 0px; padding: 0px; text-align: left; vertical-align: baseline;">A is showing broad nose, square shaped tip of nose, small philtrum, hypertelorism, telecanthus, squint and low set ears.</strong><span style="background-color: white; color: #474848; font-family: Verdana; font-size: 12px; line-height: 16px; text-align: left;"> B is showing 22q11.2 FISH with deletion (most cells) and without deletion (arrow) on interphase cells obtained from peripheral blood.</span></td></tr>
</tbody></table>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial;"><br /></span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Overview:</b> As what the name suggests, it refers to the
deletion on the long arm of chromosome 18. May refer to the interstitial
deletion (proximal) or terminal deletion (distal). </span></span><span style="background-color: white; font-family: Arial, Helvetica, sans-serif;">No common breakpoints were
identified so the extent of deletion varies widely.</span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Characteristic/Phenotype:</b> Phenotypes differ
on the kind of deletion and are highly variable depending on the size of
deletion. It is generally characterized by mental retardation, short stature,
hypotonia (reduced muscle tone), auditory impairment, dysmorphic features, <span style="background: white;">and foot deformities. <o:p></o:p></span></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><span style="background: white;"><br /></span></span></span></div>
<h3 style="background: white; line-height: 115%; margin-bottom: .05in; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">For distal 18 deletion, phenotypes include: </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%; text-decoration: none;">rocker-bottom
feet</span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;"> or </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%; text-decoration: none;">clubfoot</span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">, </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%; text-decoration: none;">cleft lip
and palate</span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">, kidney abnormalities (</span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%; text-decoration: none;">horseshoe kidney</span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">, <span style="color: windowtext; text-decoration: none; text-underline: none;">hydronephrosis</span>, </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%; text-decoration: none;">polycystic
kidney</span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">, and absent kidney), </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%; text-decoration: none;">cryptorchidism</span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;"> and </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%; text-decoration: none;">hypospadias</span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">, </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%; text-decoration: none;">strabismus</span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;"> and </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%; text-decoration: none;">nystagmus</span></span><span lang="EN-PH" style="font-weight: normal; line-height: 115%;">, myopia and coloboma on
some cases, ear canal atresia, hearing loss, hernias, scoliosis, microcephaly,
hypothyroidism, low IgA levels, psychiatric conditions (depression, anxiety,
manic and psychotic symptoms), and autism.<o:p></o:p></span></span></h3>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;"><br /></span></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 4.8pt;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">Heart abnormalities</span></span><span lang="EN-PH"> are present in 25–35% of people with
distal 18q-. </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">Hypotonia</span></span><span lang="EN-PH"> is
a common finding. Approximately 10% of people with distal 18q- have </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">seizures</span></span><span lang="EN-PH">.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">For proximal 18
deletion, phenotypes include: clubfoot, cryptochordism (uncommon), otitis
media, strabismus, hypotonia and 50% have seizures, scoliosis and tapering
fingers, developmental disabilities.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<h3 style="background: white; line-height: 115%; margin-bottom: .05in; margin-left: 0in; margin-right: 0in; margin-top: 0in;">
<span lang="EN-PH" style="font-weight: normal; line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif; font-size: small;">Cardiac anomalies are observed in 24% of cases,
including atrial and ventricular septal defects, and pulmonary stenosis. <o:p></o:p></span></span></h3>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white;">The overall level
of mental retardation appears to be mild in patients with deletions distal to
18q and severe in patients with deletions proximal to 18q.</span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency:</b> About 1 in 50,000 babies is born
with a deletion of 18p and <span style="background: white;">about 1 in every
40,000 babies is born with distal 18q-. The female to male ratio is 3:2<span class="apple-converted-space">.</span></span><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><span style="background: white;"><span class="apple-converted-space"><br /></span></span></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Diagnosis:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">The chromosomal aberration
is typically suspected when the child has developmental delays. Diagnosis is
confirmed by chromosome studies or with microarray analysis. Karyotyping can
also be done with a blood sample.<o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;">Prenatal diagnosis can be done with amniocentesis or chrionic
villus sampling but may be difficult when it involves smaller deletions. <o:p></o:p></span></span></div>
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<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Causes: </b><span style="background: white;">Most
cases are sporadic, but an autosomal dominant transmission was also reported. </span>80
percent of the cases are usually caused by a de novo chromosomal deletion
during the formation of reproductive cells or during early fetal development. <o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;">Ten percent of cases are caused by parental
translocations resulting in unbalanced chromosomes, the remaining 10 percent is
due to mosaicism, a less severe phenotype.</span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Treatment/Recommendations/Therapies:</b> </span></span><span style="background-color: white; font-family: Arial, Helvetica, sans-serif;">At present, treatment for 18q- is symptomatic, meaning that
the focus is on treating the signs and symptoms of the conditions as they
arise. To ensure early diagnosis and treatment, it is suggested that people
with 18q- undergo routine screenings for thyroid, hearing, and vision problems.</span></div>
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<ul>
<li><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Treatment
varies considerable depending on the type and severity of symptom that develop</span></li>
<li><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Surgery
may be needed to correct defects or abnormalities e.g. heart defects, skull and
facial abnormalities</span></li>
<li><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Access
to programs and services as required e.g. physical therapy, speech therapy,
educational support, social, vocational and medical service</span></li>
<li><span style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Various
other symptomatic and supportive measures</span></li>
<li><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Genetic
counseling and joining a support group is recommended. </span><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">If a parent has a deletion, there is a 50% chance that
they will have a child with distal 18q-. </span></li>
</ul>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups:</b><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Chromosome 18 Research and Registry Society<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><a href="http://www.chromosome18.org/">http://www.chromosome18.org/</a><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">UT Health Science Center<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">http://www.pediatrics.uthscsa.edu/centers/chromosome18/<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<h1 style="background: white; margin-bottom: 6.0pt; margin-left: 0in; margin-right: 0in; margin-top: 12.0pt; vertical-align: baseline;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">Budsiteanu, M. Et al. (2010). </span><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">18q
deletion syndrome – A case report. Retrieved March 12, 2013 from the URL: </span><span lang="EN-PH"><a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150013/"><span style="color: windowtext; font-weight: normal; line-height: 115%;">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150013/</span></a></span><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;"><o:p></o:p></span></span></h1>
<h1 style="background: white; margin-top: 0in; vertical-align: baseline;">
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH" style="color: windowtext; font-weight: normal; line-height: 115%;">Maranda, B. (2006). Familial
deletion 18p syndrome: case report. Retrieved March 12, 2013 from the URL: </span><span lang="EN-PH"><span style="color: windowtext; font-weight: normal; line-height: 115%;"><a href="http://www.biomedcentral.com/1471-2350/7/60">http://www.biomedcentral.com/1471-2350/7/60</a></span></span></span></h1>
<div>
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH"><b>Photo from:</b></span></span></div>
<div>
<span style="font-family: Arial, Helvetica, sans-serif; font-size: small;"><span lang="EN-PH">http://www.molecularcytogenetics.org/content/figures/1755-8166-1-18-1.jpg</span></span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-9454264647879548172013-03-12T00:09:00.003-07:002013-03-15T10:29:01.308-07:00JACOBSEN'S SYNDROME<br />
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Alternate Names:</b> </span><span class="apple-converted-space"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background-color: white;">11q deletion disorder<b>, </b></span><span lang="EN-PH">Partial
deletion 11q, Distal deletion 11q, Distal monosomy 11q, Telomeric deletion 11q,
11q-syndrome, Del 11q ter, Del 11q23.3</span><b><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><o:p></o:p></span></b></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
<div class="separator" style="clear: both; text-align: center;">
</div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="http://www.ojrd.com/content/figures/1750-1172-4-9-1-l.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="180" src="http://www.ojrd.com/content/figures/1750-1172-4-9-1-l.jpg" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Children with Jacobsen's Syndrome</td></tr>
</tbody></table>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white;"><b>Overview:</b> </span><span lang="EN-PH">Jacobsen’s syndrome is
caused by the loss genetic material from the terminus of the long (q) arm of chromosome
11.<o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Characteristic/Phenotype: </b>The symptoms of
Jacobsen’s syndrome vary considerably according to the extent of deletion. The
most common characteristics would be delayed development of motor skills, along
with learning and cognitive difficulties. Behavioral problems, such as
compulsive behaviour, short attention span, easy distractability and ADHD have
also been reported.</span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;">Facial anomalies which were identified
were:</span></div>
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</div>
<ul>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Small and low-set ears</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Hypertelorism (widely set eyes)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Ptosis (droopy eyelids)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Epicanthal folds (skin folds on
inner corners of the eyes)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Broad nasal bridge</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Downturned corners of the mouth</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Thin upper lip</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Small lower jaw</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Macrocephaly (large head)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;"> </span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">Trigonocephaly (pointed
forehead)</span></li>
</ul>
<!--[if !supportLists]--><br />
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<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Also,
approximately more than 90% of the people with the syndrome are also afflicted
with Paris-Trouusseau syndrome, a bleeding disorder which causes a lifelong
risk of abnormal bleeding and easy bruising. This is due to abnormal platelet
structure.<o:p></o:p></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 0in; margin-right: 0in; margin-top: 6.0pt;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 0in; margin-right: 0in; margin-top: 6.0pt;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Other
associated features include heart defects, feeding difficulties after birth,
short stature, frequent ear and sinus infections, and skeletal abnormalities. The
digestive system, kidneys, and genitalia are also affected. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency: </b><span style="background: white;">The
estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns with a female/male
ratio 2:1.</span><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis:</b> </span></span><span style="background-color: white; font-family: Arial, Helvetica, sans-serif;">In patients with
the classical phenotype the diagnosis is suspected on the basis of clinical
findings: mental retardation, facial dysmorphic features and thrombocytopenia.
Cytogenetic analysis must confirm the syndrome, especially with larger
deletions. Auditory tests, blood tests, endocrine and immunological assessment
and follow-up should be offered to all patients.</span></div>
<div class="MsoNormal">
<span style="background-color: white; font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white;">Prenatal diagnosis
of 11q deletion is possible by amniocentesis or chorionic villus sampling and
cytogenetic analysis with standard G-banding and, if necessary, telomeric FISH.
</span><span lang="EN-PH">Fluorescence in situ hybridization (FISH)-metaphase can
detect the deletions using genetic markers via the absence of fluorescent
signal from either the maternal or paternal chromosome 11q regions. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white;">In some cases of
deletion 11q, oligohydramnios (deficiency of amniotic fluid), nuchal
thickening, heart malformations and kidney duplication have been observed
prenatally.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Causes:</b> Eighty-five (85%) of the cases are usually caused by a random spontaneous
chromosomal deletion during the formation of reproductive cells or during early
fetal development. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">In some cases, a parent who carries a
chromosomal rearrangement called a balanced translocation cause 5 to 15 % of
cases even though the parent is unaffected as caused by the eventual imbalance
(missing genetic material) as the chromosome is passed on to the next
generation. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Families with de novo chromosomal
rearrangement have negligible recurrence. Gonadal mosaicism can be possible,
and in families with fragile site <i>FRA11B,
</i>the recurrence is slightly increased. When a parent has the syndrome, the
recurrence is 50% as well as if a parent has a balanced translocation.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<br /></div>
<div style="background: white; line-height: 115%; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 0in; margin-right: 0in; margin-top: 6.0pt;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Other data:</b>
The life expectancy of people with Jacobsen syndrome is unknown, although
affected individuals have lived into adulthood.<span style="background-position: initial initial; background-repeat: initial initial;"> The
oldest known living patient with Jacobsen’s Syndrome is 45 years old. About 20%
of children die during the first two years of life, most commonly related to
complications from congenital heart disease, and less commonly from bleeding. <o:p></o:p></span></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 0in; margin-right: 0in; margin-top: 6.0pt;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><span style="background-position: initial initial; background-repeat: initial initial;"><br /></span></span></span></div>
<div style="background: white; line-height: 115%; margin-bottom: .0001pt; margin-bottom: 0in; margin-left: 0in; margin-right: 0in; margin-top: 6.0pt;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;">Mosaic forms
have also b</span></span><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">een reported.</span></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies: </b></span></span><span style="font-family: Arial, Helvetica, sans-serif;">Heart malformations are common and usually
severe so surgery may be required in the neonatal period. Difficulties in
feeding are evident among children requiring tube feeding. Prophylactic
platelets or whole blood transfusion may be required due to abnormal platelets.
Infections are common so it is necessary to stabilize the infant’s immune
system. Retarded growth may be augmented by growth hormone therapy although it
can cause malignancies. Corrective surgery can be employed to minor
malformations (strabismus, etc.).</span></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white;"><span style="font-family: Arial, Helvetica, sans-serif;">Early intervention
with occupation, speech, physical and behavioral therapists is critical to
address cognitive and behavioral problems. It has been proven that music
therapy has been shown to be beneficial to some patients. Patients can be
vaccinated according to the standard schedule.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Genetic counselling is needed to inform
parents of the condition and to approximate recurrence risks in families based
on possible structural rearrangements of chromosome 11 of either parents.
Female patients are usually fertile (with 50 % recurrence risk) may also
require counselling. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Cognitive difficulties
may be addressed with properly tailored learning programs to suit the patient’s
development. Behavioral problems can be addressed by behaviour modification
programs. Patients usually respond well
to structured environments.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Most
children - often with the help of specific orthopedic interventions - overcome
their poor muscle tone. With therapies, most children learn to write, use a
computer, and feed and dress themselves. Aletrnative means of communication may
be employed for language difficulties.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups:</b><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Band Back Together<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">http://www.bandbacktogether.com/jacobsen-syndrome-resources/<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Genetics Home reference. (2009). Jacobsen
Syndrome. Retrieved March 12, 2013 from the URL: <a href="http://ghr.nlm.nih.gov/condition/jacobsen-syndrome"><span style="color: windowtext;">http://ghr.nlm.nih.gov/condition/jacobsen-syndrome</span></a><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Mattina, T. Et al. (2009). Jacobsen
syndrome review. Retrieved March 12, 2013 from the URLs: <a href="http://www.ojrd.com/content/4/1/9"><span style="color: windowtext;">http://www.ojrd.com/content/4/1/9</span></a>
and <span style="color: windowtext;"><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308</a></span></span><o:p></o:p></span><br />
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span>
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Photo from:</span></span><br />
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">http://www.ojrd.com/content/figures/1750-1172-4-9-1-l.jpg</span></span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-63124259056009365292013-03-12T00:01:00.002-07:002013-03-15T10:29:25.275-07:00CRI-DU-CHAT SYNDROME<br />
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Alternate Names:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;">Chromosome
5p deletion syndrome; 5p minus syndrome; Cat cry syndrome<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;"><br /></span></span></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="http://upload.wikimedia.org/wikipedia/commons/thumb/c/c9/Criduchat.jpg/230px-Criduchat.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" src="http://upload.wikimedia.org/wikipedia/commons/thumb/c/c9/Criduchat.jpg/230px-Criduchat.jpg" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Patients with Cri-du-chat syndrome.</td></tr>
</tbody></table>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Overview:</b> Cri-du-chat syndrome is
an autosomal deletion syndrome caused by partial deletion of the p arm of
chromosome 5. The characteristic cry which is perceptually and acoustically
similar to a cat’s cry is due to structural abnormality in the larynx and CNS
dysfunction. Growth failure, microcephaly, facial abnormalities and mental
retardation throughout life is also manifested.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial; mso-bidi-font-weight: bold;"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Cri-du-chat syndrome is an autosomal deletion syndrome caused
by a partial deletion of chromosome 5p and is characterized by a distinctive,
high-pitched, catlike cry in infancy with<span class="apple-converted-space"> </span></span><span lang="EN-PH"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial; color: windowtext;">growth failure</span></span></span><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif;">, microcephaly,
facial abnormalities, and</span><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif;"><span style="background: white; color: windowtext; mso-bidi-font-family: Arial; text-decoration: none; text-underline: none;">mental retardation</span></span><span class="apple-converted-space" style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"> </span></span><span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif;">throughout life.</span></div>
<div class="MsoNormal">
<span lang="EN-PH" style="background-color: white; font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<div style="background: white; line-height: 115%; margin-bottom: 8.3pt; margin-left: 0in; margin-right: 12.0pt; margin-top: 8.3pt; vertical-align: baseline;">
<span lang="EN-PH" style="line-height: 115%;"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Characteristic/Phenotype: </b></span></span><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%;">A partial deletion of the short arm of chromosome 5 is
responsible for the characteristic phenotype.</span></div>
<div style="background: white; line-height: 115%; margin-bottom: 8.3pt; margin-left: 0in; margin-right: 12.0pt; margin-top: 8.3pt; vertical-align: baseline;">
</div>
<ul>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Cry that is
high-pitched and sounds like a cat</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Downward slant to
the eyes</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Low birth weight
and slow growth</span></li>
<li><span style="color: windowtext; font-family: Arial, Helvetica, sans-serif; line-height: 115%;">Low-set or abnormally
shaped ears</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Intellectual
disability</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Partial webbing or
fusing of fingers or toes</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Single line in the
palm of the hand</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Skin tags just in
front of the ear</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Slow or incomplete
development of motor skills</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Small head (</span><a href="http://www.ncbi.nlm.nih.gov/pubmedhealth/n/pmh_adam/A003272/" style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;"><span style="border: none windowtext 1.0pt; color: windowtext; mso-border-alt: none windowtext 0in; padding: 0in; text-decoration: none; text-underline: none;">microcephaly</span></a><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">)</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Small jaw (</span><a href="http://www.ncbi.nlm.nih.gov/pubmedhealth/n/pmh_adam/A003306/" style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;"><span style="border: none windowtext 1.0pt; color: windowtext; mso-border-alt: none windowtext 0in; padding: 0in; text-decoration: none; text-underline: none;">micrognathia</span></a><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">)</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Wide-set eyes</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">Intellectual
disability</span></li>
</ul>
<div style="text-indent: -24px;">
<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
<br />
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Frequency:</b> </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Cri-du-Chat Syndrome
affects an estimated 1 in 50,000 live births, strikes all ethnicities, and is more
common in females by a 4:3 ratio.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis: </b>Conventional Cytogenetic Studies
can detect larger deletions, especially if the entire short arm is missing,
while high resolution cytogenetic studies can identify smaller deletions
(5p15). Fluorescence in situ hybridization can detect even smaller deletions
using genetic markers via the absence of fluorescent signal from either the
maternal or paternal chromosome 5p regions.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Chromosome comparative genomic
hybridization (CGH) is capable of screening the entire genome for DNA
copy-number alterations in a single hybridization. Microarray CGH can detect
single-copy aberrations affecting individual clones by using array elements
from large-insert genomic clones. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Skeletal radiography can be employed to
detect skeletal malformations, MRI for morphological brain abnormalities and
echocardiography for structural heart defects.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Causes: It was </span><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">estimated that most
cri-du-chat syndrome cases are the result of de novo deletions (about 80%),
some derive from a familial rearrangement (12%), and only a few show other rare
cytogenetic aberrations, such as mosaicism (3%), rings (2.4%), and de novo
translocations (3%).<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Most cases involve
deletions of terminal parts of the chromosome with 30-60% loss of 5p material.
Approximately 1-2% of cases have recombinations that involve a pericentric
inversion in one of the parents.The occurrence of mosaicism is a very rare
finding, with frequency estimated at about 3% of patients. </span><span lang="EN-PH">Dicentric chromosome
formation with subsequent breakage and telomere healing during meiosis explains viable terminal deletion after a
parental paracentric inversion.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">The chromosome 5 with a deleted protion
originates from the father in 80% of the cases. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in;">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Other Data:</b> </span><span lang="EN-PH">The
chance of survival to adulthood is possible, using contemporary interventions.
The mortality rate of cri-du-chat syndrome is 6-8% usually brought about by </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">pneumonia</span></span><span lang="EN-PH">, aspiration pneumonia, congenital heart
defects, and </span><span lang="EN-PH"><span style="color: windowtext; mso-bidi-font-family: Arial; mso-fareast-font-family: "Times New Roman"; mso-fareast-language: EN-PH; text-decoration: none; text-underline: none;">respiratory distress syndrome</span></span><span lang="EN-PH">. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<br /></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies:</b> No
treatment is available for cri-du-chat syndrome although caring strategies can
be employed.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Genetic counselling is needed to inform
parents of the condition and to approximate recurrence risks in families based
on possible structural rearrangements of chromosome 5 of either parents. Female
patients are usually fertile (with 50 % recurrence risk) may also require
counselling. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Patients are predisposed to upper
respiratory </span><span lang="EN-PH">tract infections, otitis
media, and severe constipation, all of which require appropriate treatment. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Special methods
harnessing receptive skills must be used rather than traditional verbal methods
to facilitate language and communication development. Sign language may also be
useful if taught and introduced early into life.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Hyperactivity, short
attention span, low threshold for frustration, and self-stimulatory behaviors (eg,
head-banging, hand-waving) may be managed with behavior modification programs. </span><span lang="EN-PH"><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
<div class="MsoNormal" style="background: white; margin-bottom: .0001pt; margin-bottom: 0in;">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Computerized training
for visual-motor coordination is proven to improve the visuo-spatial
performance of afflicted children. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<br /></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Surgery may be required
to correct structural malformations (airway tract anomalies, congenital heart diseases, clubffot,
strabismus and others. </span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Gastrostomy (surgical opening of stomach) must be considered
during infancy to protect the airway in patients with major feeding
difficulties.</span><span lang="EN-PH"><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups: </b><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Five p minus Society<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><span style="color: windowtext; text-decoration: none; text-underline: none;"><a href="http://www.fivepminus.org/">http://www.fivepminus.org/</a></span><o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:</b><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Genetics Home Reference. (2013).
Cri-du-chat Syndrome. Retrieved March 12, 2013 from the URL: <a href="http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome"><span style="color: windowtext; text-decoration: none; text-underline: none;">http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome</span></a><o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background: white; mso-bidi-font-family: Arial;">Haldeman-Englert, C. (2011). </span><span lang="EN-PH">Cri-du-chat
Syndrome. Retrieved March 12, 2013 from the URL: <a href="http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002560/"><span style="color: windowtext; text-decoration: none; text-underline: none;">http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002560/</span></a><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Chen, H. (2011). Cri-du-chat syndrome.
Retrieved March 12, 2013 from the URL: <span style="color: windowtext; text-decoration: none; text-underline: none;"><a href="http://emedicine.medscape.com/article/942897-overview">http://emedicine.medscape.com/article/942897-overview</a></span></span><o:p></o:p></span><br />
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span>
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Photo from: </span></span><span style="font-family: Arial, Helvetica, sans-serif;">http://upload.wikimedia.org/wikipedia/commons/thumb/c/c9/Criduchat.jpg/230px-Criduchat.jpg</span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0tag:blogger.com,1999:blog-954453551672198011.post-16352709545224482552013-03-11T23:53:00.000-07:002013-03-15T10:30:07.151-07:00XXX SYNDROME<br />
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Alternate names:</b> Triple X syndrome,
Triplo-X, Trisomy X, Metafemale, XXX aneuploidy<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><b>Overview: </b>A metafemale is a woman who has
an extra chromosome. </span><span lang="EN-PH" style="background-color: white; line-height: 115%;">The extent to which an individual is affected by the condition will
depend on the ratio of abnormal XXX body cells she has in relation to the
normal XX body cells. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;"><br /></span></span></div>
<table align="center" cellpadding="0" cellspacing="0" class="tr-caption-container" style="margin-left: auto; margin-right: auto; text-align: center;"><tbody>
<tr><td style="text-align: center;"><a href="http://www.jhrsonline.org/articles/2011/4/3/images/JHumReprodSci_2011_4_3_153_92292_u1.jpg" imageanchor="1" style="margin-left: auto; margin-right: auto;"><img border="0" height="248" src="http://www.jhrsonline.org/articles/2011/4/3/images/JHumReprodSci_2011_4_3_153_92292_u1.jpg" width="320" /></a></td></tr>
<tr><td class="tr-caption" style="text-align: center;">Karyotype of an individual with Triple X syndrome</td></tr>
</tbody></table>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Characteristic/Phenotype:</b> Triple X syndrome
usually has only mild to no effects since afflicted females show no discernible
difference to XX females. However, the most common indications of Triple X
syndrome include: <o:p></o:p></span></span></div>
<div class="MsoListParagraphCxSpFirst" style="mso-list: l0 level1 lfo1; text-indent: -.25in;">
</div>
<ul>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">tall stature (taller than the
average; the most common observable physical anomaly)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">behavioural problems (low
self-esteem, personality and psychological problems, anxiety)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">learning disabilities (usually
dyslexia and speech/language skills)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">clumsiness and poor
coordination caused by delayed development of some motor skills</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">wide set eyes and epicanthal
folds (vertical skinfolds covering inner corners of the eyes)</span></li>
<li><span style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">reduced muscle tone (hypotonia)</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">ovarian failure and
abnormalities although the patient can be fertile</span></li>
<li><span lang="EN-PH" style="font-family: Arial, Helvetica, sans-serif; text-indent: -0.25in;">small head (microcephaly)</span></li>
<li><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-family: Arial, Helvetica, sans-serif; line-height: 115%; text-indent: -0.25in;">curved
pinky fingers (clinodactyly)</span></li>
</ul>
<!--[if !supportLists]--><br />
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Symptoms vary from person to person, which
depends on the proportion of XX and XXX cells (mosaicism).<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">At birth, afflicted females have lower
birth weight and smaller head circumference along with EEG
(electroencephalogram), urogenital and ophthalmological abnormalities. Most
cases are not suspected after birth and many remain undiagnosed. <o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Frequency:</b> 1 in 1000 female has an extra X
chromosome <o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Causes: </b>Occurs as a result of
nondisjunction during meiosis. Random postzygotic nondisjunction can also occur
in 20 percent of the cases. Most cases are not inherited although the risk
increases with advanced maternal age.<o:p></o:p></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Diagnosis:</b> Triple X Syndrome can be
diagnosed prenatally by amniocentesis or chorionic villi sampling. Postnatal
diagnosis is typically done by a blood test and karyotyping<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Treatment/Recommendations/Therapies</b>:
Patients diagnosed in the prenatal period should be monitored closely to employ
intervention therapies in case of developmental delays. Genetic counselling is
needed for the parents to be informed about what is known about the syndrome. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">School age and adolescent patients should
undergo psychological evaluation to identify problems in areas such as in the
cognitive skills, language and social-emotional development in order to make a
personalized learning program for the patient’s learning. </span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;">Regular neuropsychological and linguistic testing
using test batteries suited to the consecutive age groups must be employed to
assess learning and determine if intervention strategies could be employed.<o:p></o:p></span></span></div>
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<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH" style="background-color: white; line-height: 115%;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">The developmental, behavioural, or
educational difficulties are caused by linguistic, auditory and neurocognitive
disorders which entails that awareness and understanding of the condition is
required for parents, teachers, clinicians and other people in order not to
augment the condition and not further aggravate it. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Despite all the tests and diagnostic
procedures, it is important to treat the afflicted child as normal as possible
and focus only on the problems of specific nature that were observed. For
example if the child is having speech and language difficulties, parents can
seek help from Speech/Language services.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Most triple X patients manifest psychotic
disorders and paranoid symptoms. Low self-esteem has been reported in most
patients in an Edinburgh study. </span><span lang="EN-PH" style="background-color: white; line-height: 115%;">There seemed to be some improvement in quality of life after leaving
school. </span><span lang="EN-PH">Therefore, triple X patients must be taken care
in stable families and small intimate social groups. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Those afflicted with severe psychiatric
illness may be given inpatient care and, in some cases neuroleptic
(antipsychotic) treatment. Literature also proved the effective treatment using
electro-convulsive therapy.<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Patients should refer to support
organizations for individual and family support. <o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><br /></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>Support Groups: </b><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Contact Triple X Syndrome (Dutch)<o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><a href="http://www.triple-x-syndroom.nl/nederlandsefolder">http://www.triple-x-syndroom.nl/nederlandsefolder</a><o:p></o:p></span></span></div>
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<br /></div>
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<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;"><b>References:
</b><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><span style="font-family: Arial, Helvetica, sans-serif;">Maarten, O, Schrander-Stumpel, C, Curfs, L.
(2010) Triple X syndrome: A Review of the Literature. Retrieved March 12, 2013 from
the URL: <a href="http://www.nature.com/ejhg/journal/v18/n3/full/ejhg2009109a.html">http://www.nature.com/ejhg/journal/v18/n3/full/ejhg2009109a.html</a><o:p></o:p></span></span></div>
<div class="MsoNormal">
<span lang="EN-PH"><br /></span></div>
<div class="MsoNormal">
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Tartaglia, N. et al. (2010). </span><strong><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; font-weight: normal;">A Review of Trisomy X (47, XXX).
Retrieved March 12, 2013 from the URL</span></strong><strong><span lang="EN-PH" style="background-color: white; background-position: initial initial; background-repeat: initial initial; color: #424242; line-height: 115%;">: </span></strong><span lang="EN-PH"><span style="background-color: white; background-position: initial initial; background-repeat: initial initial; line-height: 115%;"><a href="http://www.ojrd.com/content/5/1/8/abstract">http://www.ojrd.com/content/5/1/8/abstract</a></span></span></span><strong><span lang="EN-PH" style="background: white; color: #424242; font-family: "Arial","sans-serif"; font-size: 10.5pt; line-height: 115%;"><o:p></o:p></span></strong><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH"><br /></span></span>
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">Photo from:</span></span><br />
<span style="font-family: Arial, Helvetica, sans-serif;"><span lang="EN-PH">http://www.jhrsonline.org/articles/2011/4/3/images/JHumReprodSci_2011_4_3_153_92292_u1.jpg</span></span></div>
Anonymoushttp://www.blogger.com/profile/13064668180674593219noreply@blogger.com0