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Scientists identify new gene responsible for puberty disorders
A new gene responsible for some puberty disorders has been identified by Medical College of Georgia researchers.    view more (2008-10-28)

A rainbow of methods promises insights into biological processes and diseases
Physical alterations of DNA in chromosomes can cause serious diseases such as Down syndrome, Prader-Willi syndrome, or cancer.   view more (2007-05-02)

Finding that could shed light on 'golden staph,' candida and allergies
Recent scientific findings explain why patients with a rare immunodeficiency disorder are unusually susceptible to certain common infections. By revealing the exact molecular mechanisms involved, they also give us clues as to why some 'healthy' people are more prone to these infections than others, and suggest potential treatments.   view more (2008-07-01)

Understanding the implications of prenatal testing for Down syndrome
New article examines the influence of current tests on birth rates, assesses forthcoming tests, and calls for the establishment of medical and educational policies.   view more (2009-09-14)

Metabolic syndrome heightens risk for development
Researchers at UT Southwestern Medical Center have found that patients suffering from the metabolic syndrome - a cluster of conditions that increases the risk for heart disease, stroke and diabetes - also have a propensity to develop highly acidic urine, which increases the risk of developing kidney stones.   view more (2007-09-14)

New screening halves the number of children born with Down syndrome
A new national screening strategy in Denmark has halved the number of infants born with Down's syndrome and increased the number of infants diagnosed before birth by 30%, according to a study published on bmj.com today.   view more (2008-12-01)

Hit-and-run injury to the brain
A seven-year tracking study has prompted scientists to suggest that chronic fatigue syndrome could be the result of brain injuries inflicted during the early stages of glandular fever.   view more (2006-03-02)

Increased cognitive control in Tourette's syndrome
Though the repetitive vocal and motor tics characteristic of Tourette's syndrome may suggest an inability to control involuntary actions at the cognitive level, researchers have now found evidence that young people with Tourette's syndrome actually exhibit a greater level of cognitive control over their movements than their non-affected peers do.   view more (2006-03-21)

Postmenopausal women with higher testosterone levels
Postmenopausal women who have higher testosterone levels may be at greater risk of heart disease, insulin resistance and the metabolic syndrome compared to women with lower testosterone levels.   view more (2009-11-04)

Deep brain mapping to isolate evidence of Gulf War syndrome
Researchers at Southern Methodist University in Dallas are pioneering the use of spatial statistical modeling to analyze brain scan data from Persian Gulf War veterans, aiming to pinpoint specific areas of the their brains affected by Gulf War Syndrome.   view more (2008-11-20)

Lipid droplets lead a Spartin existence
Spartin, a protein linked to the neuronal disease Troyer syndrome, was thought to function in endocytosis. In the March 23, 2009 issue of the Journal of Cell Biology (www.jcb.org), Eastman et al. identify an unexpected role for Spartin in regulating the cell's lipid storage depots.   view more (2009-03-23)

A different parenthood?
Becoming a parent changes most people's lives. To become a parent of a daughter with a sex chromosome deviation such as Turner syndrome entails further changes. These parents have to create their parenthood taking into consideration the new situation that parenting brings with it and the special needs of their daughter. This is the subject for a... view more... (2003-04-15)

UCI researchers restore memory process in most common form of mental disability
University of California, Irvine scientists have discovered how to reverse the learning and memory problems inherent in the most common form of mental impairment.   view more (2007-10-08)

Metabolic syndrome identified as risk factor for kidney-pancreas transplant patients
A three-year multi-center study of kidney-pancreas transplant recipients has identified a new risk factor for impaired kidney function, which may help physicians refine their treatment strategies.   view more (2006-01-23)

Role for CISD2 gene in human disease and lifespan control
In the May 15th issue of G&D, Dr. Ting-Fen Tsai (The National Yang-Ming University, Taiwan) and colleagues present a new animal model of human Wolfram Syndrome, and effectively link CISD2 gene function, mitochondrial integrity and aging in mammals.   view more (2009-05-15)

Promising new drug being evaluated as possible treatment option for fragile X syndrome
A pilot trial of an oral drug therapy called fenobam has shown promising initial results and could be a potential new treatment option for adult patients with Fragile X syndrome (FXS).   view more (2009-01-07)

New mutation causing tumours in the endocrine system
   view more (1999-03-16)

ARDS mortality is unchanged since 1994
Mortality in patients with acute respiratory distress syndrome (ARDS) has not fallen since 1994, according to a comprehensive review of major studies that assessed ARDS deaths. This disappointing finding contradicts the common wisdom that ARDS mortality has been in steady decline.   view more (2009-01-23)

UNC-Duke study: Impaired brain plasticity linked to Angelman syndrome learning deficits
How might disruption of a single gene in the brain cause the severe cognitive deficits associated with Angelman syndrome, a neurogenetic disorder? Researchers at the University of North Carolina at Chapel Hill School of Medicine and Duke University now believe they have the answer: impaired brain plasticity.   view more (2009-05-11)

Restricted fetal growth increases risk of irritable bowel syndrome
Babies weighing less than the standard weight seem to be at significantly greater risk of developing irritable bowel syndrome or IBS, suggests research published ahead of print in the journal Gut.   view more (2006-09-28)
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