Physicians have recognized scoliosis, the abnormal curvature of the spine, since the time of Hippocrates, but its causes have remained a mystery -- until now. For the first time, researchers have discovered a gene that underlies the condition, which affects about 3 percent of all children.
The new finding lays the groundwork for determining how a defect in the gene -- known as CHD7 -- leads to the C- and S-shaped curves that characterize scoliosis.
"Hopefully, we can now begin to understand the steps by which the gene affects spinal development," says Anne Bowcock, Ph.D., professor of genetics, of medicine and of pediatrics at Washington University in St. Louis.
In a new, large-scale, prospective study exploring the link between levels of urate in the blood and risk of Parkinson’s disease, researchers from the Harvard School of Public Health (HSPH) have found that high levels of urate are strongly associated with a reduced risk of the disease. The findings were published online on June 20, 2007 in The American Journal of Epidemiology and will appear in an upcoming print issue of the journal.
Urate is a normal component of blood, and although high levels can lead to gout, urate might also have beneficial effects because it is a potent antioxidant.
Rare, previously undetectable drug-resistant forms of HIV have been identified by Yale School of Medicine researcher Michael Kozal, M.D., using an innovative genome sequencing technology that quickly detects rare viral mutations.
Kozal, associate professor of medicine at Yale and senior author of the retrospective study that used samples from an earlier clinical trial, presented the findings today at the 16th International HIV Drug Resistance Workshop in Barbados. “We found that the fraction of HIV patients that harbored resistance mutations is at least twice as high as previously thought,” said Kozal, who also directs the HIV Program at the VA Connecticut Healthcare System.
Experts present an analysis of long term data on the success of stem cell transplantation for osteopetrosis patients which suggests second transplants should be considered a key option.
An international study by researchers at Seattle Children’s Hospital Research Institute, the University of Washington School of Medicine, and Radboud University in Nijmegen, Netherlands has identified a new genetic cause for Joubert syndrome (JS).
Joubert syndrome is an inherited condition that affects development of the cerebellum and brainstem, the structures in the brain that coordinate movements and regulate basic functions such as breathing, swallowing, heart rate and consciousness. The study confirms key information about the genetic changes that cause JS and cellular structures called cilia, conclusively placing JS in a class of recently identified ciliopathic conditions.
Based on clues provided by a study with transgenic mice, a research group at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), has developed a strategy that will be tested as the first treatment for people with hereditary inclusion body myopathy (HIBM), a rare, degenerative muscle disease. In an unexpected finding, the research indicates that the approach also might benefit patients with certain kidney disorders.
Rats paralyzed due to loss of blood flow to the spine returned to near normal ambulatory function six weeks after receiving grafts of human spinal stem cells (hSSCs), researchers from the University of California, San Diego (UCSD) School of Medicine report.
“We demonstrated that when damage has occurred due to a loss of blood flow to the spine’s neural cells, by grafting human neural stem cells directly into the spinal cord we can achieve a progressive recovery of motor function,” said Martin Marsala, M.D., UC San Diego professor of anesthesiology.
Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease typically characterized by the slow but progressive onset of shortness of breath or cough. Most patients live about five years after diagnosis. According to a new study a subset of patients with a specific genetic profile has a much more rapid progression to complete pulmonary failure and death without a lung transplant.
Two new papers demonstrate that adolescent female sheep that become pregnant before they have achieved their full growth may not be able to supply enough nourishment for their fetuses to develop without physical deficits.
These studies may also have implications for managing pregnancies of adolescent human females, who, in increasing numbers worldwide, are bearing offspring before they have finished growing.
New research into urologic conditions – such as erectile dysfunction – indicate that these disorders could be associated with or precursors to more serious conditions, and suggest a need for practitioners to view these diseases in the greater context of total health as opposed to isolated disorders.
Here are some new studies showing links between ED and other diseases:
ENDOTHELIAL DYSFUNCTION AND OXIDATIVE STRESS ASSOCIATED WITH THE METABOLIC SYNDROME CAN BE REVERSED BY A CHRONIC TREATMENT WITH SILDENAFIL