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Genetic mutation identified for eye complaint
An international research collaboration including research teams from the Children's Hospital in Boston (USA), King's College London and the Peninsula Medical School, has identified a gene that, when mutated, causes Duane syndrome. view more (2008-07-25)
HIV treatments improve health, but nutritional issues remain
Despite the success of highly active antiretroviral treatment (HAART), people with HIV may still be at higher risk for nutritional deficiencies and abnormalities. view more (2006-12-26)
Noninvasive screening in early pregnancy reduces Down's births by 50 percent
Non-invasive screening of pregnant women with ultrasound early in pregnancy, combined with maternal blood analysis, has reduced the number of children born in Denmark with Down Syndrome by 50%. view more (2007-06-18)
Discovery of follicles offers hope of babies for Turner's syndrome girls
Lausanne, Switzerland: Swedish researchers have found that teenage girls with Turner's syndrome still have follicles in their ovaries which may be capable of producing eggs. This discovery offers hope that Turner's syndrome girls may be able to have babies in the future. Mr Julius Hreinsson, an embryologist in the Fertility Unit at Huddinge... view more... (2001-07-03)
New Drug for Children with High-Risk Leukemia
Each year, approximately 4,500 children in America are diagnosed with leukemia, according to the Leukemia and Lymphoma Society. A potentially deadly cancer of the blood, it is the most common cancer in children. view more (2009-07-29)
UCLA scientists reveal how deadly pediatric disorder develops in brain
A deadly brain disorder in toddlers may find its first treatment in drugs for Alzheimer's disease. view more (2009-05-07)
New findings explain genetic disorder's unique shift
Findings reported in this month's issue of PLoS Biology give insight into the unique characteristics of the birth defect known as Prader-Willi Syndrome (PWS), and at the same time, may help explain the way that a certain type of gene is expressed in all humans. view more (2008-08-26)
Understanding and diagnosing an inherited pain syndrome
Yale School of Medicine researchers report the first demonstration that a single mutation in a human sodium channel gene can trigger pain in people with an inherited pain syndrome known as primary erythromelalgia, according to a study published this month in the journal Brain. view more (2005-07-14)
New Down syndrome treatment suggested by Stanford/Packard study in mice
At birth, children with Down syndrome aren't developmentally delayed. But as they age, these kids fall behind. Memory deficits inherent in Down syndrome hinder learning, making it hard for the brain to collect experiences needed for normal cognitive development. view more (2009-11-19)
Successful treatment for acute heart failure remains elusive
In recent years, cardiologists have begun to view acute heart failure syndrome (AHFS) as a distinct condition, not merely a part of the chronic heart failure continuum. view more (2005-12-21)
Constant dryness in the mouth, what is the solution?
Dryness in the mouth is not an agreeable sensation and much less so if the condition becomes an illness. Effectively, there are illnesses related to lack of saliva, as is the case of the sicca-sicca disease and the Goujerot-Sjögren syndrome. The research regarding these uncommon illnesses began to be important in 1976 when new functions of... view more... (2003-09-11)
Largest review of Loeys-Dietz Syndrome to date
People with Loeys-Dietz syndrome have wideset eyes, a cleft palate or split uvula (the tissue that hangs down in the back of the throat), and a convoluted arrangement of the body's blood vessels, in addition to aggressive swelling of the aorta. view more (2006-08-24)
Potential pathway for drug intervention
A newly identified molecular pathway that directs stem cells to produce glial cells yields insights into the neurobiology of Down's syndrome and a number of central nervous system disorders characterized by too many glial cells, according to a recent study by researchers at the Salk Institute for Biological Studies. view more (2009-03-16)
Ume'å scientist honored for article on stress hormone and diabetes
Eva Rask at the Department of Public Health and Clinical Medicine, Ume'å University, Sweden, has been awarded a scholarship from the Swedish Association for Diabetology for the year's best scientific article in Swedish diabetes research in 2001. The article, published in The Journal of Clinical Endocrinology and Metabolism, describes how the... view more... (2002-04-08)
Educational materials for new mothers may prevent shaken baby syndrome, CMAJ study shows
Educational materials on how to deal with crying newborns lead to increased knowledge about infant crying and behaviours that are important to preventing shaken baby syndrome. view more (2009-03-02)
Household transmission of SARS: Lessons learned
In the 2003 outbreak of severe acute respiratory syndrome (SARS) in Toronto, Ontario, about 20% of cases resulted from household transmission (spread of the infection within a household). view more (2006-11-07)
Knowing looks: Using gaze aversion to tell when children are learning
People use eye contact in a variety of ways every minute of every day but how often do you find yourself staring into space with concentrating on an issue or problem? Psychologists now know that people who are carrying out a complex task tend to look away from anyone else who is nearby. They refer to it as 'gaze aversion'. view more (2008-06-03)
Preclinical work shows how one gene causes severe mental retardation
Researchers at Duke University Medical Center and the University of North Carolina have discovered in mice how a single disrupted gene can cause a form of severe mental retardation known as Angelman syndrome. view more (2009-05-11)
New potential therapeutic target discovered for genetic disorder -- Barth syndrome
Researchers at NYU Langone Medical Center may have discovered a new targeted intervention for Barth Syndrome (BTHS). BTHS, a sometimes fatal disease, is a serious genetic disorder occurring predominantly in males that leads to infection or heart failure in childhood. view more (2009-03-03)
Green tea may delay onset of type 1 diabetes
A powerful antioxidant in green tea may prevent or delay the onset of type 1 diabetes, Medical College of Georgia researchers say. view more (2008-10-24)
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