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Researchers discover new genetic defect that can lead to Leigh syndrome

In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering their cells can't keep up with the demand for energy in their developing brains.

7 Sep 2011

Kids around smokers lose more school days than peers

A new study says that children whose parents smoke tend to miss more school than their classmates with non-smoking parents — possibly because of a higher rate of respiratory infections.

6 Sep 2011

Discovery Labs files Complete Response to FDA for SURFAXIN to treat RDS in premature infants

Discovery Labs, Inc. today announced that, on September 2, 2011, it submitted its Complete Response to the 2009 Complete Response Letter issued by the U.S. Food and Drug Administration (FDA) for SURFAXIN(lucinactant) for the prevention of respiratory distress syndrome (RDS) in premature infants.

6 Sep 2011

Bariatric surgery is cost-effective but has long-term complications

The majority of people who undergo bariatric weight-loss surgery benefit from the procedure, but long-term complications and further surgery are not uncommon, according to a UK paper on late postoperative complications in the October issue of BJS, the British Journal of Surgery.

6 Sep 2011

Researchers discover gene mutation linked with lymphoedema, leukaemia

Researchers have discovered a gene that when mutated can cause lymphoedema (swollen limbs due to a failure of the lymph system), immune abnormalities, deafness and leukaemia.

5 Sep 2011

Researchers discover new genetic defect that predisposes people to leukemia, myelodysplasia

A new genetic defect that predisposes people to acute myeloid leukemia and myelodysplasia has been discovered. The mutations were found in the GATA2 gene. Among its several regulatory roles, the gene acts as a master control during the transition of primitive blood-forming cells into white blood cells.

5 Sep 2011

Scientists sequence ten variants of E. coli O104:H4 outbreak strain across the world

Ten variants of the deadly Escherichia coli strain that hit Germany in May 2011 have been sequenced across the world. The unprecedented level of collaboration across the scientific community should give insight into how the outbreak arose, says a scientist at the Society for General Microbiology's Autumn Conference 2011.

5 Sep 2011

Resveratrol helps prevent metabolic syndrome in offspring

Researchers in the Faculty of Medicine & Dentistry at the University of Alberta have discovered that resveratrol, a powerful antioxidant found in common foods, prevents a syndrome in some offspring that could lead to later health issues such as diabetes.

3 Sep 2011

Plerixafor drug shows promise against WHIM syndrome

A new study reports that a drug already approved by the Food and Drug Administration for use in patients undergoing a bone marrow transplant may also have promise for treating people who have a rare immune deficiency known as WHIM syndrome.

3 Sep 2011

Discovery in rare disease may shed light on common causes of blindness

In a rare eye disease, the retina degenerates because light-receiving cells fail to regenerate, research led by a student at Case Western Reserve University School of Medicine shows.

2 Sep 2011

New genetic screening program for families at high risk of colorectal cancer

UT Southwestern Medical Center has developed a new lifesaving genetic screening program for families at high risk of contracting colorectal cancer, a deadly yet highly preventable form of cancer.

2 Sep 2011

New Diabetes Care article helps to identify and treat Charcot foot

Robert Winkler says he limped around on his painful left foot for six months, suffering unnecessarily from a misdiagnosis by a physician who didn't know about the symptoms and treatments for Charcot foot, a form of localized osteoporosis linked to diabetes that causes the bones to soften and break, often resulting in amputation.

2 Sep 2011

Reduction in smoking has positive impact on mortality rates within six months

A study by the University of Liverpool has found that a decrease in smoking rapidly reduces mortality rates in individuals and entire populations within six months.

2 Sep 2011

UTHealth inaugurates new center for autoimmune and inflammatory diseases research

The University of Texas Health Science at Houston (UTHealth) announced the opening of a center devoted to researching and treating diseases associated with malfunctioning immune systems.

2 Sep 2011

Insight into molecular basis of Enhanced S-Cone Syndrome

A new research report published in The FASEB Journal will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision called Enhanced S-Cone Syndrome or Goldman-Favre Syndrome.

2 Sep 2011

New guidelines for the treatment of acromegaly, a serious growth hormone disorder

It’s said a lot can happen in seven days. In seven years, a lot has happened in the understanding of acromegaly, a debilitating condition that causes a patient to have too much growth hormone. It’s seven years since the American Association of Clinical Endocrinologists last produced guidelines for the diagnosis and treatment of acromegaly. Their 2004 guidelines were just 13 pages long. Their latest, the 2011 guidelines, have grown – to 44 pages.

31 Aug 2011

Sweat meter could alert diabetes patients about low blood sugar

Some diabetic patients receive no warning before they pass out from low blood sugar. A modern sweat meter could alert patients in time. Biathletes and ME patients might also benefit from the sweat meter.

31 Aug 2011

Medicaid news: Texas Medicaid dental spending; Ill. providers hesitant on managed care

For the past six months, News 8 investigations have revealed hundreds of millions of dollars of questionable Medicaid spending on braces for children in Texas. Now federal investigators are auditing the Texas Health and Human Services Commission, which controls those funds. Taking the lead in the audit is the Office of Inspector General of the U.S. Department of Health and Human Services.

30 Aug 2011

Results of darexaban phase II trial in recent acute coronary syndrome presented at ESC Congress

A phase II dose-finding study has found that the new oral Factor Xa inhibitor darexaban was associated with a two to four-fold increase in bleeding when added to dual antiplatelet therapy in patients following an acute coronary syndrome.

30 Aug 2011

High risk of serious complications or death in children with SP-HUS

Hemolytic uremic syndrome (HUS) caused by infection with pneumococcal bacteria leads to severe illness—with a high rate of irreversible kidney damage—in infants and young children, reports a study in the September issue of The Pediatric Infectious Disease Journal.

30 Aug 2011