Syndrome News and Research

RSS

Lonafarnib clinical trial for progeria has scientific roots in basic biology discoveries

The good news widely reported this morning of positive results from a clinical drug trial at Boston Children's Hospital for the previously "untreatable" rapid aging disorder in children known as progeria has its scientific roots in basic biology discoveries made in recent years.

26 Sep 2012

Increasing marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X

American and European scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of autism.

26 Sep 2012

Suicide attempts common in bipolar disorder inpatients

Results from a Norwegian study show that the prevalence of attempted suicide is high among inpatients with bipolar disorder, with nearly half of patients having attempted to take their own lives at least once.

25 Sep 2012

Lonafarnib proves effective for children with progeria

Results of the first-ever clinical drug trial for children with Progeria, a rare, fatal "rapid-aging" disease, demonstrate the efficacy of a farnesyltransferase inhibitor (FTI), a drug originally developed to treat cancer. The clinical trial results, completed only six years after scientists identified the cause of Progeria, included significant improvements in weight gain, bone structure and, most importantly, the cardiovascular system, according to The Progeria Research Foundation (PRF) and Boston Children's Hospital.

25 Sep 2012

Study documents women's experiences after abnormal prenatal chromosomal microarray testing

We often hear that "knowledge is power." But, that isn't always the case, especially when the knowledge pertains to the health of an unborn child, with murky implications, at best. A new study, led by researchers from the Perelman School of Medicine at the University of Pennsylvania, begins to document this exception to the general rule.

24 Sep 2012

New mouse models can help scientists study SECISBP2 syndrome

New mouse models can help scientists study a rare disease, called SECISBP2 syndrome, that causes abnormal thyroid hormone metabolism, delayed bone maturation, as well as other abnormal characteristics that vary by individual, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.

24 Sep 2012

Maternal choline intake could essentially change fetal genetic expression into adulthood

Just as women are advised to get plenty of folic acid around the time of conception and throughout early pregnancy, new research suggests another very similar nutrient may one day deserve a spot on the obstetrician's list of recommendations.

24 Sep 2012

Secondhand smoke continues to take a grievous toll on nonsmokers

Secondhand smoke is accountable for 42,000 deaths annually to nonsmokers in the United States, including nearly 900 infants, according to a new UCSF study.

21 Sep 2012

Ultrasound boosts rheumatology clinical examination findings

Musculoskeletal ultrasound improves rheumatology diagnosis and guides treatment, say researchers who believe imaging should be performed alongside clinical examination.

21 Sep 2012

Study finds drug may aid some autism patients

An experimental drug can improve sociability in patients with fragile X syndrome and may be helpful as a treatment for autism, according to the authors of a new study.

21 Sep 2012

MD Anderson introduces Moon Shots Program to reduce cancer deaths

The University of Texas MD Anderson Cancer Center announces the launch of the Moon Shots Program, an unprecedented effort to dramatically accelerate the pace of converting scientific discoveries into clinical advances that reduce cancer deaths.

21 Sep 2012

Loss of IGSF1 gene function causes central hypothyroidism

Loss of function in the X-linked immunoglobulin superfamily member 1 (IGSF1) gene causes central hypothyroidism, testicular enlargement, and variable prolactin deficiency, according to data presented at the 82nd Annual Meeting of the American Thyroid Association in Québec City, Québec, Canada.

21 Sep 2012

First Edition: September 20, 2012

Today's headlines include reports that the health law's penalty for not obtaining health insurance could hit as many as 6 million people.

21 Sep 2012

High uric acid precursor of obesity, metabolic syndrome

The relationship between uric acid and early cardiometabolic risk may precede obesity and the metabolic syndrome, show study findings.

20 Sep 2012

Social anxiety common in remitted schizophrenia patients

Social anxiety is common in schizophrenia patients who are in remission and is associated with reduced quality of life, Japanese study results show.

20 Sep 2012

Institute for Translational Medicine and Therapeutics' 2012 symposium be held from Oct. 16-17

The Institute for Translational Medicine and Therapeutics' 7th Annual International Symposium (ITMAT) will be held October 16 and 17 at the Perelman School of Medicine, University of Pennsylvania.

20 Sep 2012

Complete story behind connection between XMRV virus and prostate cancer

A once-promising discovery linking prostate cancer to an obscure retrovirus derived from mice was the result of an inadvertent laboratory contamination, a forensic analysis of tissue samples and lab experiments - some dating back nearly a decade - has confirmed.

20 Sep 2012