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Patient registry yields new data that is crucial for early diagnosis and treatment of FMD

A patient registry is proving invaluable in cataloging the clinical features, symptoms, severity, and outcomes of fibromuscular dysplasia (FMD), a non-inflammatory vascular disease that can cause narrowing of arteries in the carotid (neck) and renal (kidney) arteries, which can result in headache, strokes, and aneurysms.

27 Jun 2012

Researchers identify latest gene associated with typical late-onset Lewy body Parkinson's

An international team led by human genetic researchers at the University of British Columbia and Vancouver Coastal Health has identified the latest gene associated with typical late-onset Lewy body Parkinson's disease (PD), with the help of a Canadian Mennonite family of Dutch-German-Russian ancestry.

27 Jun 2012

First clinical trial to test cardiac drug regimen for DMD

The first landmark randomized clinical trial for a cardiac drug regimen in Duchenne muscular dystrophy (DMD) is testing whether earlier treatment can stop or slow down heart damage that usually kills people with the disease.

27 Jun 2012

Genetic risk for schizophrenia linked to brain volume alterations

Patients with schizophrenia and their unaffected first-degree relatives show altered gray and white matter volumes in specific brain regions compared with mentally healthy individuals, researchers report.

26 Jun 2012

Liability for schizophrenia linked to cognition in mood disorders

Schizotypal traits and genetic liability for schizophrenia are associated with reduced cognitive functioning in patients with mood disorders, Japanese study results show.

26 Jun 2012

Greater awareness of MH and consequences of ryanodine receptor gene mutations

From the MHAUS President's Blog by MHAUS President, Henry Rosenberg, MD. A few months ago, I received a call from the MH Hotline who connected me to an anesthesiologist and OR team who were desperately trying to manage a Malignant Hyperthermia crisis.

26 Jun 2012

Sunflower peptides can treat itchy skin problems

Sunflowers may hold the solution to a problem which gets under the skin of millions of Australians every year. Skin conditions such as eczema, dermatitis, rosacea and the lesser-known Netherton Syndrome pose an itchy problem for many sufferers world-wide, but a group of researchers from Queensland University of Technology (QUT), in Brisbane Australia, are looking at ways to soothe the problem - with tiny proteins called peptides, found in sunflowers.

26 Jun 2012

Study investigates EEGs as potential diagnostic tool for autism

Widely available EEG testing can distinguish children with autism from neurotypical children as early as age 2, finds a study from Boston Children's Hospital. The study is the largest, most rigorous study to date to investigate EEGs as a potential diagnostic tool for autism, and offers hope for an earlier, more definitive test.

26 Jun 2012

Researchers create endothelial cells with blood-brain barrier qualities

The blood-brain barrier -- the filter that governs what can and cannot come into contact with the mammalian brain -- is a marvel of nature. It effectively separates circulating blood from the fluid that bathes the brain, and it keeps out bacteria, viruses and other agents that could damage it.

25 Jun 2012

Inexpensive exome sequencing can quickly detect heterogeneous diseases

The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics.

25 Jun 2012

Study: Neurons that control hunger linked to non-food associated behaviors

Researchers at Yale School of Medicine have zeroed in on a set of neurons in the part of the brain that controls hunger, and found that these neurons are not only associated with overeating, but also linked to non-food associated behaviors, like novelty-seeking and drug addiction.

25 Jun 2012

De novo somatic gene mutations likely to cause hemimegalencephaly

Hemimegalencephaly is a rare but dramatic condition in which the brain grows asymmetrically, with one hemisphere becoming massively enlarged. Though frequently diagnosed in children with severe epilepsy, the cause of hemimegalencephaly is unknown and current treatment is radical: surgical removal of some or all of the diseased half of the brain.

25 Jun 2012

Smoking of fathers before conception can damage genetic information of their offspring

As you decide what to get dad for Father's Day, you might want to consider what he gave you when you were conceived. If he smoked, your genes are likely damaged, and your odds for cancers and other diseases throughout your life could be increased. A new research report appearing online in the FASEB Journal, scientists show for the first time in humans that men who smoke before conception can damage the genetic information of their offspring.

23 Jun 2012

Oxytocin hormone plays an important role in Williams syndrome

The hormone oxytocin - often referred to as the "trust" hormone or "love hormone" for its role in stimulating emotional responses - plays an important role in Williams syndrome (WS), according to a study published June 12, 2012, in PLoS One.

23 Jun 2012

CARHY announces comprehensive hematopoietic stem cell transplant service

Adding an impetus to the already existing image of Bangalore being a healthcare destination of India, Columbia Asia Referral Hospital, Yeshwanthpur (CARHY), announced comprehensive bone marrow transplant (stem cell transplant) service on Thursday.

23 Jun 2012

International conference showcases breadth of research possible with zebrafish

It's clear where the black-and-white striped zebrafish got its name, but less obvious at first glance is what zebrafish has to do with biomedical research. Amazingly, it has biological similarities to humans, which are making this small freshwater fish an increasingly popular model organism for studying vertebrate development, genetics, physiology, and mechanisms of disease.

23 Jun 2012

First study to demonstrate that microbes are specific to their host species

Gut bacteria's key role in immunity is tuned to the host species, researchers have found, suggesting that the superabundant microbes lining our digestive tract evolved with us-a tantalizing clue in the mysterious recent spike in human autoimmune disorders.

23 Jun 2012

Amygdala volume reduced in schizophrenia, not psychotic BD

Amygdala volume is reduced in patients with schizophrenia compared with those who have psychotic bipolar disorder, researchers report.

22 Jun 2012

A potential drug target for NK/T-cell lymphoma

A discovery by Van Andel Institute researchers has identified a potential drug target for NK/T-cell lymphoma, a type of cancer responsible for claiming the life of a close friend and fellow researcher.

22 Jun 2012

Research funding in sub-Saharan Africa needs to 'reflect true disease burden'

With the disease burden of AIDS, tuberculosis, and malaria expected to make up less than 15 percent of the total disease burden in sub-Saharan Africa (SSA) by 2030, and non-communicable diseases to account for nearly 40 percent of the total in the region, "[a] revision of the approach to research and health care in SSA is therefore urgently needed, but international donors and health communities have generally been slow to respond to the changing environment."

22 Jun 2012