HOUSTON – (May 1, 2014) -- A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness. The study published online today in the American Journal of Human Genetics. The Baylor researchers first studied a patient from Australia with these symptoms who had been seen by many doctors and had multiple diagnostic tests, without any diagnosis. Although there was no family history of the disease, the researchers ...

'Cell migration' is a broad term for all the processes associated with the movement of cells from one location to another. It lies at the core of biological processes like embryonic development, immune responses and wound healing, but also autoimmune diseases and metastasis of cancerous cells. Cell migration is achieved through the movement of the cell's membrane, which is powered by the action of a protein network inside the cell. However, this interaction is affected by the cell's overall shape, but exactly how this takes place is unclear. Publishing in Current Biology, ...

Babies who have skull deformation because they lie in the same position most of the time do not benefit from wearing a corrective helmet, finds research published today on bmj.com. There was no meaningful difference in skull shape at the age of two years between children treated with therapy helmet and those who received no active treatment. Both groups showed similar improvements although only a quarter made a full recovery to a normal head shape, according to the team of researchers based in The Netherlands. Around one baby in five under the age of six months develops ...

Researchers have identified a section of the anthrax toxin Lethal Factor that could help produce a more effective vaccine. Anthrax is a potentially lethal disease caused by a bacterium called Bacillus anthracis. The bacteria produce spores that when inhaled, ingested or absorbed into the skin release toxins. When anthrax affects the lungs or intestines it can cause death within a few days whilst infection of the skin (cutaneous anthrax) is less dangerous. Infection can occur from contact with infected livestock, meat or hides, but most people know about anthrax from ...

Natural gas (methane) can be converted into hydrogen (H2), which is used in clean energy, synthetic fertilizers, and many other chemicals. The reaction requires water and a nickel catalyst. Methane and water molecules attach on the catalyst's surface, where they dissociate into their atomic components. These then recombine to form different compounds like H2 and CO. Previous research has focused mainly on understanding how methane dissociates, but experimental constraints have limited research into water dissociation. Publishing in Science, EPFL scientists have used lasers ...

Shrinking ice sheets and melting ice caps are well known consequences of climate change. But a new study reveals that impacts on biodiversity will be just as severe in other regions of the world. When multiple dimensions of climate change are analyzed, different regions emerge as threatened by different aspects of climate change. The tropics, for example, will be highly affected by local changes in temperature and precipitation, leading to novel climates with no current analogues in the planet. These results, recently published in Science, expose the complexities of climate ...

On Friday 2 May, 2014, The Lancet and The Lancet Respiratory Medicine will release three new review articles and an Editorial on asthma, ahead of World Asthma Day on May 6 and the American Thoracic Society's international conference (ATS 2014) in San Diego (May 16-21). Editorial – Controlling asthma Outdoor air pollution and asthma Asthma genetics and personalised medicine Diagnosis, management, and prognosis of preschool wheeze The Lancet: Outdoor air pollution and asthma Traffic and power generation are the main sources of urban air pollution. The idea that ...

Boston and Cambridge, MA – Researchers from Brigham and Women's Hospital (BWH), Harvard Medical School (HMS), the Broad Institute of MIT and Harvard, Massachusetts General Hospital (MGH), and University of Chicago report findings demonstrating how genetic variations among healthy, young individuals can influence immune cell function. Many of those variants are also genetic risk factors for common diseases such as Alzheimer's disease, diabetes, and multiple sclerosis later in life, offering new insight into disease pathology. The study will be published in the May 2, ...

CAMBRIDGE, MA -- Launched in 2013, the national BRAIN Initiative aims to revolutionize our understanding of cognition by mapping the activity of every neuron in the human brain, revealing how brain circuits interact to create memories, learn new skills, and interpret the world around us. Before that can happen, neuroscientists need new tools that will let them probe the brain more deeply and in greater detail, says Alan Jasanoff, an MIT associate professor of biological engineering. "There's a general recognition that in order to understand the brain's processes in comprehensive ...

Corn yields in the central United States have become more sensitive to drought conditions in the past two decades, according to Stanford research. The study, which appears in the journal Science, was led by Stanford's David Lobell, associate professor of environmental Earth system science and associate director of the Center on Food Security and the Environment. "The Corn Belt is phenomenally productive," Lobell said, referring to the region of Midwestern states where much of the country's corn is grown. "But in the past two decades we saw very small yield gains in non-irrigated ...

Bacteria don't have sex as such, but they can mix their genetic material by pulling in DNA from dead bacterial cells and inserting these into their own genome. New research led by Imperial College London has found that this process – called recombination – is more complex than was first thought. The findings, published today in PLoS Genetics, could help us understand why bacteria which cause serious diseases are able to evade vaccines and rapidly become drug-resistant. Dr Rafal Mostowy of Imperial College London's School of Public Health explains: "During recombination, ...

When a woman requires gynecologic surgery, she and her surgeon have several minimally invasive surgical options, including robotic surgery. In recent years, the use of robotic surgery has become more and more common. But questions have arisen about the potential overuse of robotic surgery and its advantages over traditional laparotomy for hysterectomy. A clinical opinion by Charles Rardin, MD, a urogynecologist in the Division of Urogynecology and Reconstructive Surgery and director of the Robotic Surgery Program for Women at Women & Infants Hospital of Rhode Island, ...

OAKLAND, Calif., May 2, 2014 — Women with high levels of a common liver enzyme measured prior to pregnancy were twice as likely to subsequently develop gestational diabetes than those with the lowest levels, according to a Kaiser Permanente study published today in the journal Diabetes Care. The liver plays an important role in regulating glucose levels in the body. The liver enzyme, called gamma-glutamyl transferase (known as GGT), is a common marker of liver function and has also been associated with insulin resistance, which can be a precursor to gestational diabetes ...

The so-called Middle East respiratory syndrome (MERS) coronavirus was first found in June 2012 in a patient from Saudi Arabia, who suffered from severe pneumonia. Since this time more than 300 persons have developed an infection, of whom about a third died. The fact that the Arabian camel is the origin of the infectious disease has been confirmed recently. The transmission pathways of the viruses, however, have not been clear until now. Viruses in humans and camels from one region are identical Virologists Norbert Nowotny and Jolanta Kolodziejek from the Institute ...

The periodic table of the elements is to get crowded towards its heaviest members. Evidence for the artificial creation of element 117 has recently been obtained at the GSI Helmholtz Centre for Heavy Ion Research, an accelerator laboratory located in Darm-stadt, Germany. The experiment was performed by an international team of chemists and physicists headed by Prof. Christoph Düllmann, who holds positions at GSI, Johannes Gutenberg University Mainz (JGU), and the Helmholtz Institute Mainz (HIM). The team included 72 scientists and engineers from 16 institutions in Australia, ...

The drug sofosbuvir has been available since January 2014 as a treatment for chronic hepatitis C infection. In an early benefit assessment pursuant to the Act on the Reform of the Market for Medicinal Products (AMNOG), the German Institute for Quality and Efficiency in Health Care (IQWiG) has now examined whether the new drug offers added benefit in comparison with the appropriate comparator therapy. The dossier submitted by the drug manufacturer provides indications of added benefit for non-pretreated patients infected with the virus of genotype 2. However, the extent ...

EAST LANSING, Mich. --- Here's another reason to drop that doughnut and hit the treadmill: A new study suggests aerobic fitness affects long-term memory. Michigan State University researchers tested 75 college students during a two-day period and found those who were less fit had a harder time retaining information. "The findings show that lower-fit individuals lose more memory across time," said Kimberly Fenn, study co-author and assistant professor of psychology. The study, which appears online in the research journal Cognitive, Affective & Behavioral Neuroscience, ...

In a new study published today in Cell Reports, scientists at the Fred Hutchinson Cancer Research Center demonstrate that mice lacking one copy of a gene called CTCF have abnormal DNA methylation and are markedly predisposed to cancer. CTCF is a very well-studied DNA binding protein that exerts a major influence on the architecture of the human genome, but had not been previously linked to cancer. Over 30 years ago, frequent loss of one copy of chromosome 16 was first reported in breast cancer but the gene or genes responsible remained to be identified. Dr. Gala Filippova, ...

New pharmaceuticals to fight autoimmune diseases, such as multiple sclerosis, rheumatoid arthritis and psoriasis, may be identified more effectively by adding genome analysis to standard drug screening, according to a new study by a research team led by UC San Francisco and Harvard researchers, in collaboration with Tempero and GlaxoSmithKlein. In a study reported online April 17, 2014 in the journal Immunity, the scientists combined drug screening with state-of-the-art techniques for analyzing the genome, leading to three small molecules that improved symptoms in a mouse ...

SEATTLE — The United States is among just eight countries in the world to experience an increase in maternal mortality since 2003 – joining Afghanistan and countries in Africa and Central America, according to a new study by the Institute for Health Metrics and Evaluation (IHME) at the University of Washington. The study, "Global, regional, and national levels and causes of maternal mortality during 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013," published May 2 in The Lancet, ranked the United States number 60 in the list of 180 countries ...

SEATTLE — Since the start of an international effort to address maternal and child mortality, millions of lives have been saved globally, two new studies by the Institute for Health Metrics and Evaluation (IHME) at the University of Washington show. In 2000, the Millennium Development Goals (MDGs) were established by the United Nations to drive maternal and child deaths down by 2015. Child and maternal deaths had been falling in most countries since the 1980s, but the pace accelerated after the goals were set. If countries continue on this course, child deaths will fall ...

Sendai, Japan -- Three-dimentional (3D) nanoporous graphene with preserved 2D Dirac electronic characters was successfully synthesized by Dr. Yoshikazu Ito and Prof. Mingwei CHEN at Advanced Institute for Materials Research (AIMR), Tohoku University. The nanoporous graphene is constructed by a single layer graphene sheet that is continuously inter-connected to form a complex 3D network structure. This free-standing nanoporous graphene with an excellent crystallinity possesses high mobility, holding great promise for the applications in electronic devices. The nanoporous ...

The research groups of Janne Ihalainen (University of Jyväskylä) and Sebastian Westenhoff (University of Gothenburg) have clarified how the atom structure of bacterial red light photosensors changes when sensing light. The research reveals structural changes in phytochrome protein when illuminated. "The results are a unique demonstration of proteins' ability to structural changes in different phases of their operation. This helps to understand how the biological photosensors function. The modelling and utilisation of protein for other applications becomes much easier ...

Scientists at USC have definitively demonstrated that large sets of variations in the genetic code that do not individually appear to have much effect can collectively produce significant changes in an organism's physical characteristics. Studying the budding yeast Saccharomyces cerevisiae, USC's Matthew B. Taylor and Ian M. Ehrenreich found that the effects of these genetic variants can depend on four or more other variants in an individual's genome. Most genetic analyses of heritable physical characteristics, including genome-wide association studies in human populations, ...

Obesity increases the risk of myeloma, a cancer of plasma cells that accumulate inside the bones. And with current obesity trends in the United States and especially in South Texas, that's ominous. "I'm predicting an increase in multiple myeloma," said Edward Medina, M.D., Ph.D., "and with the obesity problems we see in the Hispanic population, there could be a serious health disparity on the horizon." Dr. Medina, a hematopathologist and assistant professor in the Department of Pathology at The University of Texas Health Science Center at San Antonio, is looking ...