News tagged with severe congenital neutropenia
Scientists identify new congenital neutropenia syndrome and causative gene mutation
Jan 02, 2009 |
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A team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and identified the genetic cause of ...
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Function of molecular switch pinpointed in severe congenital neutropenia
Mar 06, 2008 |
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Researchers have for the first time cleared an important hurdle to clarifying the molecular mechanics behind Severe Congenital Neutropenia (SCN), a deadly disease characterized by a deficiency of neutrophils – a type of mature ...
Toxoplasmosis found more severe in Brazil compared to Europe
Aug 14, 2008 |
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Newborns in Brazil are more susceptible to toxoplasmosis than those in Europe, according to a recent study. Researchers based in Austria, Brazil, Denmark, France, Italy, Poland, Sweden, and the United Kingdom studied the ...
Treatment corrects severe insulin imbalance in animal studies
Jul 31, 2008 |
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Researchers have used a drug to achieve normal levels of blood sugar in animals genetically engineered to have abnormally high insulin levels. If this approach succeeds in humans, it could become an innovative medicine for ...
Genetic testing may be valuable in treating colorectal cancer
Jul 27, 2009 |
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For the 29,000 patients in the United States with metastatic colorectal cancer, chemotherapy with irinotecan is a standard treatment that has been shown to improve survival. But for more than one in 10 of these patients, ...
Cats' eye diseases genetically linked to diseases in humans
Mar 04, 2009 |
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About one in 3,500 people are affected with retinitis pigmentosa (RP), a disease of the retina's visual cells that eventually leads to blindness. Now, a University of Missouri researcher has identified a genetic ...
Researchers identify gene responsible for rare childhood disease
Jul 24, 2008 |
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The chromosomal abnormality that causes a rare, but often fatal, disorder that affects infants has been identified by researchers at the University of California, San Diego School of Medicine, who happened to treat two young ...
Patients receive heart valve replacements without surgery using high-tech device
Apr 18, 2008 |
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Interventional cardiologists at Rush University Medical Center now offer a minimally-invasive transcatheter valve replacement procedure for patients with congenital heart disease that doesn’t involve open heart surgery.
Human cardiac master stem cells identified
Jul 01, 2009 |
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(PhysOrg.com) -- Harvard Stem Cell Institute researchers at Massachusetts General Hospital have identified the earliest master human heart stem cell from human embryonic stem cells - ISL1+ progenitors - that ...
Adults with aortic valve disorder do not experience reduction in survival rate
Sep 16, 2008 |
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Young adults with a bicuspid aortic valve, a congenital heart abnormality, experience subsequent cardiac events but do not appear to have lower survival rates compared to the general population, according to a study in the ...
New study suggests two causes for bowel disease in infants
Apr 27, 2009 |
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New research from Lucile Packard Children's Hospital and the Stanford University School of Medicine is helping physicians unravel the cause of a deadly and mysterious bowel disease that strikes medically fragile newborn babies. ...
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