PHOENIX, Ariz. -- June 19, 2015 -- A genetic mutation responsible for a debilitating childhood neurological condition known as Aicardi syndrome has been identified by the Translational Genomics Research Institute (TGen). In a study published today in the scientific journal Investigative Ophthalmology & Visual Science, TGen researchers identified mutations to a gene known as TEAD1, which not only affects formation of the brain but also the retina, the part of the eye responsible for helping turn light into nerve impulses. In addition, the TGen study found that -- contrary ...

WASHINGTON --Many seniors injured in motor vehicle crashes remain in pain for months afterwards, which negatively affects their quality of life, including the ability to live independently. The results of a study of older auto accident victims treated in emergency departments were published online yesterday in Annals of Emergency Medicine ("Persistent Pain Among Older Adults Discharged Home from the Emergency Department Following Motor Vehicle Collision: A Prospective Cohort Study"). "The types of injuries that younger people recover from relatively quickly seem to put ...

By volunteering to mail saliva to researchers working with their health care provider, thousands of people in California have helped build one of the nation's most powerful medical research tools. The researchers have now published the first reports describing these volunteers' genetic characteristics, how their self-reported ethnicity relates to genetic ancestry, and details of the innovative methods that allowed them to complete DNA analysis within 14 months. The articles are published in the journal GENETICS. "This is an incredible treasure trove of data. The information ...

ROSEMONT, Ill. -- First-time surgery can be concerning to any patient. Knee surgery -- even arthroscopic surgery to treat a torn meniscus -- can require significant preparation and rehabilitation. According to a new study appearing in the June 17 issue of the Journal of Bone & Joint Surgery (JBJS), a web-based tutorial can not only increase a patient's understanding of the surgery but also provide a better experience. Meniscal tears are among the most common knee injuries in athletes; however, anyone at any age can tear a meniscus. Although various non-surgical methods ...

Putnam Valley, N.Y., June 19 -- Three years after they treated patients with spinal cord injury in a randomized clinical trial with transplanted cells from the patients' olfactory mucosa (nasal cavities) to build a 'bridge' to span the gap between the damaged ends of the spinal cord, researchers found that some recipients had experienced a range of modest improvements and determined that the use of olfactory mucosa lamina propria (OLP) transplants was 'promising and safe.' 'This study demonstrated that transplantation of OLP affected motor functional recovery as well ...

A telecommunications law academic in Australia has recommended for laws to be enacted criminalising the application of face recognition technology to visual images online that enable the identity of a person or people to be ascertained without their consent. An article published today in the International Journal of Law and Information Technology has looked at the absence of laws surrounding face recognition technologies and has found that there are no laws which specifically address the issue of unauthorised application of face recognition technologies to online images. ...

The study was conducted at the Center for Self-Assembly and Complexity within the Institute for Basic Science (IBS) in South Korea. Director Kimoon Kim and his team experimented with nitric oxide, a highly stable molecule of supreme importance in science. NO is highly reactive and a free radical, meaning a single, unpaired electron is present in its molecule. Put simply NO plays the role of a mediator between elements and helps them combine. Radicals are regularly generated in many metabolic pathways. Some of these radicals can exist in a free form and subsequently interact ...

In a study published recently, scientists from the University of Hawai'i - Mānoa (UHM) and University of Tokyo revealed that two species of deep-sea sharks, six-gill and prickly sharks, are positively buoyant - they have to work harder to swim downward than up, and they can glide uphill for minutes at a time without using their tails. Conventional wisdom suggests that sharks are negatively, or occasionally neutrally, buoyant. Sharks have cartilaginous skeletons, which are lower in density than bone, and they generate buoyancy via their large, oil-filled liver. ...

In a new study, researchers explain why one particular cathode material works well at high voltages, while most other cathodes do not. The insights, published in the 19 June issue of the journal Science, could help battery developers design rechargeable lithium-ion batteries that operate at higher voltages. Researchers used a powerful X-ray imaging technique combined with new data analysis algorithms to gain insights -- at the nanoscale level -- on the mechanical properties of a cathode material called an LNMO spinel (composed of lithium, nickel, manganese and oxygen ...

Investigators at Children's Hospital Los Angeles are providing new hope for babies with short bowel syndrome (SBS) by developing a novel model of SBS in zebrafish, described in a paper published online on June 18 by the American Journal of Physiology-Gastrointestinal and Liver Physiology. SBS is a highly morbid disease where the small intestine is either shortened or non-functional, leaving the patient with the inability to absorb enough nutrients from food. This results in profound malnutrition, dehydration, and can be fatal. Some patients increase their ability ...

Salmon are severely impacted by the loss of floodplain habitats throughout the West Coast. In few places is this more pronounced than in Oregon's Tillamook Bay, where nearly 90 percent of estuaries' tidal wetlands have been lost to development -- threatening the survival of federally-protected coho salmon and the safety of the local community. Now, the Federal Emergency Management Agency, NOAA Fisheries, and others have come together to reduce flood risk, increase resiliency of the ecosystem, and restore salmon habitat in Tillamook Bay by coordinating and aligning their ...

New UCLA research offers further evidence that cocaine use disrupts the immune system, making people who use it more likely to become infected with HIV. In research published online June 18 in the peer-reviewed journal Scientific Reports, researchers with the UCLA AIDS Institute and Center for AIDS Research used an advanced form of humanized mice -- that is, immunodeficient mice engineered to have a human-like immune system -- to study the effects of cocaine. The findings suggest that using cocaine makes people significantly more susceptible to HIV infection. 'Substance ...

VIRGINIA BEACH. The Mid-Atlantic Regional Council on the Ocean (MARCO) applauds the Mid-Atlantic Fishery Management Council (MAFMC) on their recent approval of an amendment to protect deep sea corals from the impacts of fishing gear in the Mid-Atlantic. If approved by the Secretary of Commerce, the amendment will create "deep sea coral protection zones" in areas where corals have been observed or where they are likely to occur. In total, the areas proposed for designation encompass more than 38,000 square miles - an area nearly the size of Virginia. Established by the ...

Cigarette prices and images on cigarette packets have an impact on women in terms of continuing to smoke or quitting. In fact, less educated women are more responsive to pictorial labels on cigarette packets, as revealed by a study that has analysed, for the first time, the generation differences among female smokers, a group which, despite policy measures, has not stopped growing. In Spain, smoking levels are declining among men, but this trait does not extend to women. In the face of this phenomenon, experts claim that policy measures are needed to tackle such gender ...

Clathrin proteins involved in endocytosis form a lattice that can dramatically change its shape Combination of fluorescence microscopy and 3D electron microscopy allows quantitative data to be analysed Results offer new understanding of role of clathrin in endocytosis Researchers at EMBL Heidelberg have solved a question that has puzzled cell biologists for decades - how does the protein machine that allows cells to swallow up molecules during endocytosis function? Endocytosis is the process by which cells engulf molecules and draw them inside the cell where they perform ...

This news release is available in French. Researchers at Inserm (Inserm Unit 930 "Imaging and Brain") attached to François-Rabelais University and Tours Regional University Hospital have combined three clinical, neurophysiological and genetic approaches in order to better understand the brain mechanisms that cause autism. When tested on two families, this strategy enabled the researchers to identify specific gene combinations in autistic patients that distinguished them from patients with intellectual disabilities. This study, published in the journal Molecular ...

Boulder, Colo., USA - J.E. Harvey and colleagues discuss the Main Himalayan Thrust, which is the plate-boundary fault underlying the Himalaya. They write, "Convergence along the fault drives uplift of the Himalaya and causes catastrophic earthquakes like the recent Gorkha earthquake in central Nepal." C. Nagy and colleagues use geologic field mapping and structural analysis in the upper Karnali Valley of northwestern Nepal to confirm the existence of a strike-slip dominated fault, oriented sub-parallel to the Himalayan mountain belt. These and other LITHOSPHERE papers ...

A study by researchers at Columbia University's Mailman School of Public Health debunks the assumption that global warming will lead to a decline in the number of deaths in winter. Findings by Professor Patrick Kinney, ScD, professor of Environmental Health Sciences and director of the School's Climate and Health Program, showed that a warming climate trend led to much smaller reductions in cold-related mortality than some experts have anticipated. Among 39 cities in the U.S. and France, there was no evidence that cities having warming temperatures experienced any less ...

Low energy activities that involve sitting down are associated with an increased risk of anxiety, according to research published in the open access journal BMC Public Health. These activities, which include watching TV, working at a computer or playing electronic games, are called sedentary behavior. Further understanding of these behaviors and how they may be linked to anxiety could help in developing strategies to deal with this mental health problem. Many studies have shown that sedentary behavior is associated with physical health problems like obesity, heart disease, ...

In a new study published today in The Veterinary Journal, scientists from the University of Surrey warn about the numerous risks posed to racehorses from the misuse of cobalt chloride, a banned performance-enhancing agent that has been used illegally by trainers in Australia and USA. The team of researchers have uncovered that when excessive levels of the alleged performance-enhancing substance are administered to a horse, it can cause serious cardiovascular issues, potential nerve problems, thickening of the blood and thyroid toxicity. The researchers also pointed to ...

In a study that contradicts the received wisdom on health impacts of climate change, scientists say that we shouldn't expect substantial reduction in winter deaths as a result of global warming. This new research is published today (Friday 19 June) in IOP Publishing's Environmental Research Letters journal. The research team was led by Professor Patrick Kinney of Columbia University in the USA. Professor Kinney said "As Dr Margaret Chan told delegates at the recent World Health Assembly, we need to know the potential impacts of climate change on health so that we can ...

Doctors often misdiagnose zinc deficiency, and seem to be unaware of the impact of excess zinc on the body, shows a small audit of clinical practice, published online in the Journal of Clinical Pathology. Too much zinc, taken in the form of dietary supplements, may disrupt copper uptake, leading to neurological problems and anaemia, the evidence indicates. Zinc is an essential trace element that is required in daily quantities of 5.5 to 9.5 mg for men, and 4 to 7 mg for women. But zinc supplements are usually only available in formulations of 45 or 50 mg. The US recommended ...

The inclusion of experimenters -- who are unlikely to become habitual users -- in e-cigarette prevalence studies is of 'questionable' value for monitoring population public health trends, finds research published online in the journal Tobacco Control. Setting the threshold at a minimum of use on six out of the past 30 days would eliminate many of those who are motivated primarily by curiosity and unlikely to become regular users. And it would provide a more accurate picture of use, say the researchers. There is no uniform definition for current users of e-cigarettes. ...

Endometrial cancer (EC) can spread by several routes, including the lymph system, blood vessels, through the uterine wall, as well as through the fallopian tubes into the peritoneal cavity, but the association of transtubal dissemination of EC with cancer stage, histological type, and mortality is unknown. However, according to a study published June 18 in the JNCI: Journal of the National Cancer Institute, women who have undergone a tubal ligation (TL) and develop more aggressive types of EC may have lower mortality. The authors postulate that women who have had TL have ...

DALLAS, June 18 -- Individual state stroke legislation plays a compelling role in certifying primary stroke centers and improving availability and accessibility of care to acute stroke patients, according to research in the American Heart Association journal Stroke. A hospital that has been certified as a Primary Stroke Center (PSC) has met specific standards for delivering prompt stroke care. To be eligible, hospitals must meet several criteria, including setting up a dedicated stroke-focused program staffed by medical professionals trained in stroke care. Researchers ...