News tagged with congenital generalized hypertrichosis
Genetic 'bearded lady' syndrome uncovered: study
May 21, 2009 |
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New research provides exciting genetic insight into a rare syndrome that first appeared in the medical literature in the mid 1800s with the case of Julia Pastrana, the world's most notorious bearded lady. The study, published ...
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New gene linked to congenital heart defects
Dec 17, 2009 |
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(PhysOrg.com) -- Researchers from the UC San Diego School of Medicine and colleagues have identified a new gene, ETS-1, that is linked to human congenital heart defects. The landmark study, recently published online in the ...
Potential therapy for congenital muscular dystrophy
Dec 30, 2008 |
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Current research suggests laminin, a protein that helps cells stick together, may lead to enhanced muscle repair in muscular dystrophy. The related report by Rooney et al, "Laminin-111 restores regenerative capacity in a ...
Folic acid to prevent congenital heart defects
May 14, 2009 |
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The Canadian policy of fortifying grain products with folic acid has already proved to be effective in preventing neural tube defects. The latest article published in the British Medical Journal by a group of researchers from t ...
Increased risk of birth defects after PCE exposure
Sep 23, 2009 |
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Exposure to tetrachloroethylene (also known as perchlorethylene, PCE) may cause congenital birth defects. A study of expectant women exposed to PCE in drinking water, published in BioMed Central's open access journal Environmental He ...
Study examines effect of heart surgery on employment
Mar 30, 2009 |
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A new studying appearing in Congenital Heart Disease compares the careers and long-term occupational successes of men and women who underwent surgery for congenital heart disease to those of the general population. The pr ...
Fat-free diet reduces liver fat in fat-free mice
Biology /
Feb 03, 2009 |
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Researchers at UT Southwestern Medical Center have uncovered crucial clues about a paradoxical disease in which patients with no body fat develop many of the health complications usually found in obese people.
Scientists offer explanation for 'face blindness'
Nov 25, 2008 |
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For the first time, scientists have been able to map the disruption in neural circuitry of people suffering from congenital prosopagnosia, sometimes known as face blindness, and have been able to offer a biological explanation ...
Researchers identify the gene responsible for a rare form of congenital anemia
May 08, 2009 |
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The latest electronic edition of the journal Nature Genetics reports the discovery of a new gene responsible for congenital sideroblastic anemia, a rare disease, mainly characterized by the presence of ringed sideroblasts in the ...
Fruit fly research may lead to better understanding of human heart disease
Dec 02, 2008 |
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Researchers at the Burnham Institute for Medical Research (Burnham) have shown in both fruit flies and humans that genes involved in embryonic heart development are also integral to adult heart function. The study, led by ...
Oxygen test has potential to detect some critical congenital heart defects in newborns
Jul 06, 2009 |
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A test that measures oxygen levels in newborns can detect "critical" congenital heart disease, but there are variables involved with the test that require more study before it is adopted for universal newborn screening, according ...
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