Although significant progress has been made over the last 25 years to identify genetic abnormalities associated with congenital myasthenic syndromes (CMS), many patients remain genetically undiagnosed. A report in the inaugural ...
Jun 20, 2014
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A Japanese pharmaceutical company said Monday it will begin therapeutic testing of a drug it hopes will slow the decline in quality of life for some people with Down's syndrome.
Jul 1, 2013
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A 66-year-old who lived his whole life as a man was given a surprising diagnosis after visiting the doctor in Hong Kong with a swollen abdomen—he was a woman.
Jun 4, 2013
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Total anomalous pulmonary venous connection (TAPVC), one type of "blue baby" syndrome, is a potentially deadly congenital disorder that occurs when pulmonary veins don't connect normally to the left atrium of the heart. This ...
May 12, 2013
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Maternal use of valproate (a drug used for the treatment of epilepsy and other neuropsychological disorders) during pregnancy was associated with a significantly increased risk of autism in offspring, according to a study ...
Apr 23, 2013
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(Medical Xpress)—Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published in the print edition ...
Apr 3, 2013
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Researchers used induced pluripotent stem cells (iPSCs) derived from a young patient with Long QT syndrome (LQTS), a congenital heart disorder, to determine a course of treatment that helped manage the patient's life-threatening ...
Jan 11, 2013
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After years of basic research, scientists at Johannes Gutenberg University Mainz (JGU) are increasingly able to understand the mechanisms underlying the human Usher syndrome and are coming ever closer to finding a successful ...
Dec 4, 2012
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About 10 percent of kids born with kidney defects have large alterations in their genomes known to be linked with neurodevelopmental delay and mental illness, a new study by Columbia University Medical Center (CUMC) researchers ...
Nov 15, 2012
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Researchers have mapped the precise 3-D atomic structure of a thin protein filament critical for cells in the inner ear and calculated the force necessary to pull it apart.
Nov 7, 2012
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