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Health of entire families at risk through under-use of genetic testing

Paris, France: A new study of the use of genetic testing for cancer-causing mutations in affected families in France has found that its take-up is very low.

Diabetes drug shows promise in treatment of neurodegenerative disease

Paris, France: A drug used to control Type II diabetes can help repair the spinal cords of mice suffering from the inherited disease adrenoleukodystrophy which, untreated, leads eventually to a paralysis, a vegetative state and death. This is an important step along the road to the development of a therapy for the human disease for which current treatment options are scarce and only partially effective, the annual conference of the European Society of Human Genetics will hear tomorrow (Sunday). The research is published simultaneously on line in the journal Brain.

Bone tumor in 120,000-year-old Neandertal discovered

The first-known definitive case of a benign bone tumor has been discovered in the rib of a young Neandertal who lived about 120,000 years ago in what is now present-day Croatia. The bone fragment, which comes from the famous archaeological cave site of Krapina, contains by far the earliest bone tumor ever identified in the archaeological record.

PD-like sleep and motor problems observed in α-synuclein mutant mice

Amsterdam, NL, 7 June 2013 – The presence of Lewy bodies in nerve cells, formed by intracellular deposits of the protein α-synuclein, is a characteristic pathologic feature of Parkinson's Disease (PD). In the quest for an animal model of PD that mimics motor and non-motor symptoms of human PD, scientists have developed strains of mice that overexpress α-synuclein. By studying a strain of mice bred to overexpress α-synuclein via the Thy-1 promoter, scientists have found these mice develop many of the age-related progressive motor symptoms of PD and demonstrate changes in sleep and anxiety.

How do immune cells detect infections?

How do immune cells manage to sort through vast numbers of similar-looking proteins within the body to detect foreign invaders and fight infections?

"For immune cells, singling out foreign proteins is like looking for a needle in a haystack – where the needle may look very much like a straw, and where some straws may also look very much like a needle," notes McGill University physics professor Paul François.

Drought, river fragmentation forcing endangered fish out of water, biologist finds

MANHATTAN, Kan. -- A Kansas State University researcher is discovering that the North American drought has caused dramatic changes in native fish communities.

"A couple of key species that we have been studying have virtually disappeared where they historically were abundant," said Keith Gido, professor of biology who researches fish ecology and conservation of aquatic systems.

Clinical sequencing technology identifies new targets in diverse cancers

PHILADELPHIA — Novel abnormalities in the FGFR gene, called FGFR fusions, were identified in a spectrum of cancers, and preliminary results with cancer cells harboring FGFR fusions suggested that some patients with these cancers may benefit from treatment with FGFR inhibitor drugs, according to data published in Cancer Discovery, a journal of the American Association for Cancer Research.

Detection of apple juices and cereals which exceed permitted levels of mycotoxins

Researchers from the University of Granada (Spain) have analysed the presence of patulin, a type of toxin produced by fungi, in several commercial apple juices. The results show that more than 50% of the samples analysed exceed the maximum limits laid down by law. They have also discovered a sample of rice with more mycotoxins than permitted. For their part, researchers from the University of Valencia have also found these harmful substances in beers, cereals and products made from them, such as gofio flour.

New research findings on onset of uterine fibroids provide potential for novel treatments

Uterine leiomyomata, or fibroids, are benign tumours that nevertheless affect the health of millions of women. They may cause, for instance, pain, bleeding and infertility. Fibroids are also the most common reason for a hysterectomy; for example, some 8,000 hysterectomies are made in Finland each year.

Making sense of patterns in the Twitterverse

RICHLAND, Wash. – If you think keeping up with what's happening via Twitter, Facebook and other social media is like drinking from a fire hose, multiply that by 7 billion – and you'll have a sense of what Court Corley wakes up to every morning.

Magpies take decisions faster when humans look at them

Researchers from the Seoul National University found that wild birds appear to "think faster" when humans, and possibly predators in general, are directly looking at them.

"We started this study from our experience" says Dr. Sang-im Lee, the leader of magpie research team and the first author of the paper. "For a long time we had this impression that somehow magpies know that we are watching them because they often fly away from us when we observe them. But when we don't observe them, we can pass them pretty close-by but they don't fly away!"

Mandatory flu vaccination of healthcare personnel does not lead to worker exodus

Fort Lauderdale, Fla., June 7, 2013 – Mandatory influenza (flu) vaccination, as a condition of employment, did not lead to excessive voluntary termination, according to a four-year analysis of vaccination rates at Loyola University Medical Center in Maywood, IL.

Flu infections result in approximately 150,000 hospital admissions and 24,000 deaths annually.1 The Centers for Disease Control and Prevention (CDC) recommends that all healthcare personnel (HCP) receive the annual flu vaccine, yet the national average for HCP vaccination is only 64 percent.

3 out of 20 scopes used to examine GI tracts and colons improperly cleaned

Fort Lauderdale, Fla., June 7, 2013 - Three out of 20 flexible gastrointestinal (GI) endoscopes used for screening were found to harbor unacceptable levels of "bio dirt" – cells and matter from a patient's body that could pose potential infection risk -- according to a study of endoscopes used at five hospitals across the U.S.

Stranded orcas hold critical clues for scientists

The development of a standardized killer-whale necropsy system has boosted the complete data from killer-whale strandings from 2 percent to about 33 percent, according to a recent study from a team of scientists, including a University of California, Davis wildlife veterinarian.

The study, published recently in the journal Marine Mammal Science, suggests that the data can help scientists better understand the life history of the orca species.

Common genetic disease linked to father's age

Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father's production of sperm carrying the disease trait.