Advances in DNA sequencing have uncovered a rare syndrome which is caused by variations in the gene SATB1. The study, co-authored by academics from Oxford Brookes University (UK), University of Lausanne (Switzerland), Radboud University (The Netherlands), University of Oxford (UK),…
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Scientists reveal mechanism that causes irritable bowel syndrome
KU Leuven researchers have identified the biological mechanism that explains why some people experience abdominal pain when they eat certain foods. The finding paves the way for more efficient treatment of irritable bowel syndrome and other food intolerances. The study,…
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New insights on the role of the MLL4 gene in Kabuki syndrome
Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. But a study published on Jan. 11 in Nature Communications illuminates new details regarding how this occurs. The research suggests that…
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Microwave pulses caused bizarre ‘Havana syndrome,’ report suggests
A string of mysterious neurological illnesses reported by U.S. diplomats in Cuba was likely caused by directed microwave energy, according to a new report from the National Academies of Sciences. In late 2016, people who worked at the U.S. embassy…
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Guidelines developed for care of adults with Down syndrome
(HealthDay)—In an evidence-based clinical guideline, published online Oct. 20 in the Journal of the American Medical Association, recommendations are presented for the medical care of adults with Down syndrome. Amy Y. Tsou, M.D., from the ECRI Center for Clinical Excellence…
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Study underscores value of Down Syndrome Clinic to You program
A new software program effectively brings the expertise of Massachusetts General Hospital (MGH) specialists to many more patients with Down syndrome (DS), according to a study published today in Genetics in Medicine. Down Syndrome Clinic to You (DSC2U) is a…
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Researchers reveal how THC may treat acute respiratory distress syndrome
Acute Respiratory Distress Syndrome (ARDS), when caused by a bacterial toxin known as Staphylococcal enterotoxin, can be completely prevented by treatment with Δ9-tetrahydrocannabinol (THC), a cannabinoid found in the cannabis plant. This exciting finding, recently published in the highly cited…
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A deeper connection to Hyaline Fibromatosis Syndrome
Hyaline Fibromatosis Syndrome (HFS) is a rare but severe genetic disease that affects babies, children, and adults. Hyaline, a glassy substance, accumulates in the skin and various organs, and causes painful deformities that can lead to an early death. HFS…
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Guys Share How They Overcame Shy Bladder Syndrome at the Urinal
One of the few feelings even more uncomfortable than desperately needing to pee, is desperately needing to pee but it just won’t come out because you’re stood at a urinal next to other guys. This performance anxiety, which scientists term…
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Short-term medications may cut risk for ‘broken heart’ syndrome
(HealthDay)—In early bereavement, low-dose metoprolol and aspirin reduces physiological and psychological surrogate measures of cardiovascular risk, according to a study published in the February issue of the American Heart Journal. Geoffrey H. Tofler, M.D., from the University of Sydney, and…
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