A team of researchers from the University of Geneva (UNIGE) has been involved in a thorough genetic investigation based on the case of a child suffering from the Nivelon-Nivelon-Mabille Syndrome, a complex condition characterised mainly by a sexual development disorder. Following a genome analysis of the patient and parents, the scientists, led by Serge Nef, Professor of the Department of Genetic Medicine and Development in the Faculty of Medicine, have identified not only the gene, but also the protein-producing mechanism, whose malfunctioning causes the syndrome in question. ...

A specially formed material that can provide custom broadband absorption in the infrared can be identified and manufactured using "genetic algorithms," according to Penn State engineers, who say these metamaterials can shield objects from view by infrared sensors, protect instruments and be manufactured to cover a variety of wavelengths. "The metamaterial has a high absorption over broad bandwidth," said Jeremy A. Bossard, postdoctoral fellow in electrical engineering. "Other screens have been developed for a narrow bandwidth, but this is the first that can cover a super-octave ...

One third of women around the world have experienced physical or sexual violence at the hands of their intimate partners with consequences from post-traumatic stress disorder, anxiety, and depression, to sexually transmitted diseases, including HIV. Now, in a new study in 29 low-income and middle-income countries, researchers at Columbia University's Mailman School of Public Health have identified yet another serious health risk associated with intimate partner violence (IPV): smoking. The researchers examined the association between IPV and smoking among 231,892 women ...

COLUMBIA, Mo. – For HIV patients being treated with anti-AIDS medications, resistance to drug therapy regimens is commonplace. Often, patients develop resistance to first-line drug therapies, such as Tenofovir, and are forced to adopt more potent medications. Virologists at the University of Missouri now are testing the next generation of medications that stop HIV from spreading, and are using a molecule related to flavor enhancers found in soy sauce, to develop compounds that are more potent than Tenofovir. "Patients who are treated for HIV infections with Tenofovir, ...

Terahertz imaging, which is already familiar from airport security checkpoints, has a number of other promising applications — from explosives detection to collision avoidance in cars. Like sonar or radar, terahertz imaging produces an image by comparing measurements across an array of sensors. Those arrays have to be very dense, since the distance between sensors is proportional to wavelength. In the latest issue of IEEE Transactions on Antennas and Propagation, researchers in MIT's Research Laboratory for Electronics describe a new technique that could reduce the number ...

It's been about 10,000 years since our ancestors began farming, but crop domestication has taken much longer than expected – a delay caused less by genetics and more by culture and history, according to a new study co-authored by University of Guelph researchers. The new paper digs at the roots not just of crop domestication but of civilization itself, says plant agriculture professor Lewis Lukens. "How did humans get food? Without domestication – without food – it's hard for populations to settle down," he said. "Domestication was the key for all subsequent human civilization." The ...

People can only recognize two faces in a crowd at a time – even if the faces belong to famous people. So says Volker Thoma of the University of East London in the UK in an article which sheds light on people's ability to process faces, published in Springer's journal Psychonomic Bulletin & Review. The findings have relevance to giving eye-witness testimony or for neuropsychological rehabilitation. Thoma set up two experiments in which participants were asked to identify a famous politician such as Tony Blair and Bill Clinton or pop stars such as Mick Jagger and Robbie ...

AUGUSTA, Ga. - A virtual patient, the electronic medical record, and questions about how well patients sleep appear effective new tools in recognizing suicide risk, researchers say. A fourth – and perhaps more powerful – tool against suicide is the comfort level of caregivers and family members in talking openly about it, said Dr. W. Vaughn McCall, Chairman of the Department of Psychiatry and Health Behavior at the Medical College of Georgia at Georgia Regents University. Suicide is among the top 10 causes of death in the United States for every group age 10 and older, ...

Most plants try to turn towards the sun. Scientists from the University of Gothenburg have worked with Finnish colleagues to understand how light-sensitive proteins in plant cells change when they discover light. The results have been published in the most recent issue of Nature. The family of proteins involved is known as the "phytochrome" family, and these proteins are found in all plant leaves. These proteins detect the presence of light and inform the cell whether it is day or night, or whether the plant is in the shade or the sun. "You can think of them as the ...

VANCOUVER, BRITISH COLUMBIA – A new study of Utah youth with suspected sports-related head injuries found that emergency room visits for children with sports-related head injuries have increased since the state's concussion law passed in 2011, along with a rise in head CT scans -- leading to potentially unnecessary radiation exposure. The results were announced at the Pediatric Academic Societies conference in Vancouver, British Columbia in May by William McDonnell, M.D., J.D., associate professor of pediatrics at the University of Utah. The study, completed by McDonnell ...

VANCOUVER, BRITISH COLUMBIA – While many parents-to-be are aware that the health of their baby starts before they've actually arrived into the world, recent research reveals that "harm" (i.e., tobacco smoke, dirty air, poor nutrition, even preeclampsia) may not present itself disease-wise until well into adulthood or when a second harmful "hit" triggers the individual's susceptibility. The results were announced at the Pediatric Academic Societies conference in Vancouver, British Columbia in May by Lisa Joss-Moore, Ph.D., University of Utah Department of Pediatrics. ...

The melting of a rather small ice volume on East Antarctica's shore could trigger a persistent ice discharge into the ocean, resulting in unstoppable sea-level rise for thousands of years to come. This is shown in a study now published in Nature Climate Change by scientists from the Potsdam Institute for Climate Impact Research (PIK). The findings are based on computer simulations of the Antarctic ice flow using improved data of the ground profile underneath the ice sheet. "East Antarctica's Wilkes Basin is like a bottle on a slant," says lead-author Matthias Mengel, ...

Chicago, IL (May 5, 2014) — A surgical method combining two techniques for removing precancerous polyps during colonoscopies can substantially reduce the recovery time and the length of hospital stays, potentially saving the health-care system millions of dollars, according to research presented today at Digestive Disease Week® (DDW). "Not only did we find that patients were discharged a day and a half earlier, we discovered other benefits, which could transform our approach to removing difficult colon polyps," said Jonathan Buscaglia, MD, the study's lead researcher ...

ANN ARBOR, Mich. – Women face greater limits on their lifestyle and have more severe symptoms as a result of peripheral artery disease (PAD), but minimally invasive procedures used to unclog arteries are just as successful as in men. The success of procedures, such as angioplasty or stent placement, in treating women with leg PAD was revealed in a Journal of the American College of Cardiology study. The study provides a rare look at gender differences in PAD. PAD happens when fatty deposits build up in arteries outside the heart, usually the arteries supplying fresh ...

Cajal-Retzius cells are reelin-secreting neurons in the marginal zone of the neocortex and hippocampus. However, the relationship between Cajal-Retzius cells and Alzheimer's disease is unknown. Dr. Jinbo Deng and team from Henan University in China revealed that the number of Cajal-Retzius cells markedly reduced with age in both wild type and in mice over-expressing the Swedish double mutant form of amyloid precursor protein 695 (transgenic (Tg) 2576 mice). The decline in Cajal-Retzius cells in Tg2576 mice was found to occur concomitantly with the onset of Alzheimer's disease ...

The most common form of muscular dystrophy among adults is dystrophia myotonica type 1 (DM1), where approximately 1 in every 8000 is affected by the disease. The severity of the disease varies from mild forms to severe congenital forms. It is dominantly inherited and accumulates through generations, gaining increased severity and lowered age of onset. DM1 is characterised by accumulating toxic aggregates of ribonucleic acids (RNA) from a specific mutated gene (see figure 1). When this RNA, which contains thousands of CUG nucleotide repeats, builds up in the cell, it attracts ...

Huntington's disease is an autosomal-dominant inherited neurodegenerative disease with a distinct phenotype, but the pathogenesis is unclear. Although patients with a family history have more typical clinical symptoms, signs, and pathological changes, as well as an unambiguous clinical diagnosis, other diseases with dance-like movements, e.g., dentatorubral-pallidoluy-sian atrophy, spinocerebellar ataxia type 17, Huntington's disease-like-2, and neuroferritinopathy, are difficult to identify and distinguish from Huntington's disease. By mutation screening for CAG repeats ...

Animal hoarding is a psychiatric disorder that consists of accumulating large numbers of animals at home, usually cats and dogs, without providing them with a minimal standard of care. Researchers from IMIM (Hospital del Mar Research Institute) publish the first European study to provide data on this disorder, in the Journal Animal Welfare. The disorder is still largely unknown and has a negative effect on the health of both the people who suffer from it and the animals involved. "This is the first step towards public recognition of this disorder, a disorder that constitutes ...

Nanoengineers at the University of California, San Diego are asking what might be possible if semiconductor materials were flexible and stretchable without sacrificing electronic function? Today's flexible electronics are already enabling a new generation of wearable sensors and other mobile electronic devices. But these flexible electronics, in which very thin semiconductor materials are applied to a thin, flexible substrate in wavy patterns and then applied to a deformable surface such as skin or fabric, are still built around hard composite materials that limit their ...

MINNEAPOLIS, MN – May 1, 2014 – The Minneapolis Heart Institute Foundation (MHIF) announced today the first implant of the world's smallest pacemaker at the Minneapolis Heart Institute. The device was implanted as part of a global clinical trial and the procedure was the first of its kind in the Midwest. One-tenth the size of a conventional pacemaker, and comparable in size to a large vitamin, the Medtronic Micra™ Transcatheter Pacing System is delivered directly into the heart through a catheter inserted in the femoral vein. Once positioned, the pacemaker is securely ...

NEW YORK – Menopausal women have long reported experiencing hot flashes, mood swings, night sweats and memory lapses, too. A new study from researchers in the Perelman School of Medicine at the University of Pennsylvania shows preliminary evidence that the psychostimulant drug lisdexamfetamine (LDX) can aid post-menopausal women by improving attention and concentration, organization, working memory and recall. The findings will be presented by C. Neil Epperson, MD, director of the Penn Center for Women's Behavioral Wellness, on Tuesday during the American Psychiatric ...

During their annual Winter Study at Isle Royale National Park, scientists from Michigan Technological University counted nine wolves organized into one breeding pack and a second small group that is a remnant of a formerly breeding pack. In the Isle Royale Wolf-Moose Study’s annual report released today, the researchers say that over the past three years, they have tallied the lowest numbers of wolves ever: nine in 2011–12, eight in 2012–13 and nine in 2013–14. During the same period, predation rates—the proportion of the moose population killed by wolves—also dropped ...

STANFORD, Calif. — Something — or some things — in the blood of young mice has the ability to restore mental capabilities in old mice, a new study by Stanford University School of Medicine investigators has found. If the same goes for humans, it could spell a new paradigm for recharging our aging brains, and it might mean new therapeutic approaches for treating dementias such as Alzheimer's disease. In the study, to be published online May 4 in Nature Medicine, the researchers used sophisticated techniques to pin down numerous important molecular, neuroanatomical and ...

Levodopa is the preferred treatment for Parkinson's disease in the clinic. However, long-term use of levodopa may lead to various motor complications, among which levodopa-induced dyskinesia is the most common, severely affecting patients' quality of life. Dr. Jiancheng He and co-workers from Shanghai University of Traditional Chinese Medicine in China established a model of Parkinson's disease dyskinesia in rats, and treated these animals with Compound Formula Rehmannia. They found that Compound Formula Rehmannia alleviates levodopa-induced dyskinesia in Parkinson's disease ...

Patients with implanted artificial cochlea often complain that they cannot recognize speech well in natural environments, especially if background of noise is present. Researchers think that a poor ability to localize sound in a complex auditory environment is responsible for the weak speech perception observed under these conditions. Pentobarbital anesthesia prolongs the recovery time of responses to lagging stimulus. The effects of pentobarbital anesthesia on the precedence effect stem from decreased dissociation of gamma-aminobutyric acid from its receptor (i.e., it ...