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Hypotonia
Hypotonia

... During the health supervision visit for a 6 week old boy, his father expresses concern that his son “doesn’t look like” his other children. Growth parameters are normal except for a head circumference of 35.5 cm (<5th percentile). On PE, you note that the infant does not appear to fixate or track yo ...
Clinical/Scientific Notes Paraneoplastic encephalomyelitis
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... associated with pancreatic tumor and anti-GAD antibodies L. Hernández-Echebarrı́a, MD; A. Saiz, MD; A. Arés, MD; J. Tejada, MD; L. Garcı́a-Tuñón, MD; C. Nieves, MD; and F. Graus, MD Glutamic acid decarboxylase (GAD), the enzyme that catalyzes the conversion of glutamate to ␥-aminobutyric acid (G ...
CT and MR of MELAS Syndrome
CT and MR of MELAS Syndrome

... but neither was short nor had lactic acidosis, thereby not meeting all the major criteria for the diagnosis of MELAS syndrome. Most patients with MELAS syndrome are affected in youth or early adulthood, but the course of lesion appearance has infrequently been studied . One patient with a small fron ...
Exercise and Post Polio Syndrome
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... Post  Polio  Syndrome  (PPS)  is  a  condition  that  affects  many  polio  survivors.   Decades  after  contracting  the  polio  virus,  individuals  may  begin  to  experi-­ ence  new  weakness,  pain  and  fatigue.  Managing  these  new  symptoms  dif-­ fers  for  each  person.  It  is  recommend ...
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Bringing Kallmann Syndrome into Focus
Bringing Kallmann Syndrome into Focus

... The principle phenotypic features of KS, anosmia and hypogonadism, were first reported at autopsy almost 150 years ago (4). When Franz Kallmann demonstrated the association in a living individual, he also showed that the disorder can be inherited in an X-linked fashion (5). Although a rare disorder, ...
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Serotonin Syndrome
Serotonin Syndrome

... Severe Symptoms  High fever  Seizures  Irregular heartbeat  Unconsciousness Your health care team may have given you this information as part of your care. If so, please use it and call if you have any questions. If this information was not given to you as part of your care, please check with yo ...
Abstract
Abstract

... Another case report details a patient with Susac syndrome being treated successfully with rituximab, an anti-CD 20 antibody.5 In addition to our patient’s successful therapeutic regimen, she presented early post-partum which, like other autoimmune diseases such as Rheumatoid Arthritis, further sugge ...
Horner Syndrome at a Glance
Horner Syndrome at a Glance

... orner syndrome (Figures 1–3) is not a disease but a myriad of clinical signs caused by sympathetic denervation to the eye. Disease affecting any portion of the sympathetic pathway can lead to ipsilateral neurologic dysfunction. ...
product know-how improves cognitive capacities of down`s
product know-how improves cognitive capacities of down`s

... In order to carry out the project the researchers had to design a product that dispensed the epigallocatechin gallate to the participants. Considering the swallowing difficulties experienced by some people with Down's syndrome, and assessing other nutritional def ...
Causes - Coweta County Schools
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... acids waste found in the brain cells without it the • Carriers of this nervous system breaks disease are : down over time – Jewish (Asckenazi) – Irish – Cajun – French-Canadian – Children with this disease usually die around age five. ...
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Werner syndrome



Werner syndrome (WS), also known as ""adult progeria"", is a rare, autosomal recessive progeroid syndrome (PS), which is characterized by the appearance of premature aging.Werner syndrome is named after the German scientist Otto Werner. He identified the syndrome in four siblings observed with premature aging, which he explored as the subject of his dissertation of 1904.It has a global incidence rate of less than 1 in 100,000 live births (although incidence in Japan and Sardinia is higher, affecting 1 in 20,000–40,000 and 1 in 50,000, respectively). 1,300 cases had been reported as of 2006. Affected individuals typically grow and develop normally until puberty; the mean age of diagnosis is twenty-four, often realized when the adolescent growth spurt is not observed. The youngest person diagnosed was six years old. The median and mean ages of death are 47–48 and 54 years, respectively. The main cause of death is cardiovascular disease or cancer.
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