Some patients with a rare type of epilepsy called epilepsy aphasia have something else in common. They have mutations in the same gene. Epilepsy aphasia disorders are characterized by seizures and speech abnormalities. University of Washington researchers headed a recent study on genetic association. Their report, "GRIN2A mutations cause epilepsy-aphasia spectrum disorders," is published in the Aug. 11 issue of Nature Genetics. The scientists sequenced genes in 519 patients with severe seizure disorders. Within the group, 44 patients had epilepsy aphasia and four ...

Results from a landmark international study using state of the art technology has revealed new genetic mutations that cause epilepsy. The findings could help to advance treatments for the most severe forms of epilepsy. The global study, led by the University of Melbourne and Austin Hospital (Aus), Duke University and the University of California, San Francisco (US), used advanced gene technology known as exome sequencing to identify new genes that cause severe childhood epilepsies. Epilepsy is a brain condition that affects an estimated 50 million people worldwide. As ...

Thioperamide, a selective histamine H3 receptor antagonist, can increase histamine content in the brain and improve brain edema in adult hypoxic rats. Brain edema is precisely considered as the important pathological change of neonatal hypoxic-ischemic encephalopathy. As a study reported in the Neural Regeneration Research (Vol. 8, No. 19, 2013), thioperamide was used to increase histamine content in the brain, and then the mechanism of action of thioperamide during brain edema in a rat model of neonatal hypoxic-ischemic encephalopathy was examined. Results showed that ...

The most common limb-girdle muscular dystrophy subtype in Italy, Spain, Turkey, Russia, Brazil and Australia is calpainopathy (limb-girdle muscular dystrophy type 2A), while dystroglycanopathy (limb-girdle muscular dystrophy type 2I) is the commonest form in Norway, Denmark and northern England. In India, sarcoglycanopthies (limb-girdle muscular dystrophy type 2C-2F) are the most preva-lent, while dysferlinopathies are the most frequent type in USA and Japan. A rigorous comparison of the morphological features of biopsy specimens between limb-girdle muscular dystrophy type ...

X-linked methyl-CpG binding protein 2 plays important role in the regulation of neuronal development, proliferation and maturation, and synaptic regeneration and apoptosis. Overexpression of X-linked methyl-CpG binding protein 2 in SH-SY5Y cells can reduce cell apoptosis induced by 6-hydroxydopamine and increased tyrosine hydroxylase expression. But the specific role of X-linked methyl-CpG binding protein 2 in the pathogenesis of Parkinson's disease remains unknown. Prof. Xianhou Yuan and team from Zhongnan Hospital of Wuhan University used 6-hydroxydopamine-induced human ...

An algorithm capable of diagnosing heart rhythm with just 3 seconds' worth of signal, and the demonstration that it is possible to come up with the diagnosis without stopping cardiac massage, constitute the types of solutions and proposals being developed by researchers in the Signal and Communications Group of the Faculty of Engineering in Bilbao (UPV/EHU-University of the Basque Country). "We don't save lives, we just do research," as Jesús Ruiz, leader of the Signal and Communications Group, makes it clear. "But what has been confirmed is that it is cardiac massage ...

SAN ANTONIO -- Adding to the picture of what prompts breast cancers to form, researchers from the Cancer Therapy & Research Center (CTRC) at The University of Texas Health Science Center San Antonio today announced that "distant estrogen response elements" (DEREs) can act independently of oncogenes to spur tumor development. DEREs appear to be depots or hubs that remotely and simultaneously control multiple target genes in response to estrogen stimulation, said Pei-Yin Hsu, Ph.D., lead author of the paper in Cancer Cell. As such, they are prime targets for the study of ...

Radiography is widely used in diagnosing ankle injuries, with 85%–95% in pediatric injuries, although only 12% of these show fractures. "Radiography is unnecessary for most children's ankle injuries, and these high rates of radiography needlessly expose children to radiation and are a questionable use of resources," writes Dr. Kathy Boutis, a pediatric emergency department physician at the Hospital for Sick Children (SickKids) and the University of Toronto, with coauthors. The Low Risk Ankle Rule is highly accurate at identifying fractures and can potentially reduce ...

Contact: Vanessa Solomon solomon@wehi.edu.au 61-393-452-971 Walter and Eliza Hall Institute Rachel Steinhardt rsteinhardt@licr.org 212-450-1582 Ludwig Institute for Cancer Research 'Dark-horse' molecule is a potential new anti-cancer target Australian researchers have identified a molecule called interleukin-11 as a potential new target for anti-cancer therapies. Until now, the importance of interleukin-11 in cancer development has been underestimated, but researchers have recently identified this molecule as a 'dark horse' for the development of cancer. ...

Boston, Mass., August 12, 2013 – In a new paper in Cancer Cell, a team led by Judy Lieberman, PhD, of Boston Children's Hospital's Program in Cellular and Molecular Medicine reports "triple-negative" breast cancers may be vulnerable to drugs that attack the proteasome. This cellular structure acts as the cell's waste disposal, breaking down damaged or unneeded proteins. These cancers, which lack the three major therapeutic markers for breast cancer—the estrogen, progesterone and HER2 receptors—are very aggressive and difficult to treat. They mostly affect younger women ...

What's good for adults is not always best for the young, and vice versa. At least that is the case with song sparrows and how they experience the effects of climate change, according to two recent studies by scientists at the University of California, Davis, and Point Blue Conservation Science. Both studies show the importance of considering the various stages and ages of individuals in a species -- from babies to juveniles to adults -- to best predict not only how climate change could affect a species as a whole, but also why. "To learn how climate change is expected ...

Singapore, 12 August 2013 – A team of scientists from the National Cancer Centre Singapore, Duke-NUS Graduate Medical School Singapore, and Taiwan's Chang Gung Memorial Hospital, LinKou, have made a breakthrough in understanding the cancer-promoting action of Aristolochic Acid (AA), a natural product of Aristolochia plants traditionally used in some Asian herbal remedies for weight loss and slimming. Using advanced DNA sequencing technologies, the team, led by Professors Teh Bin Tean, See-Tong Pang, Patrick Tan and Steve Rozen discovered that AA is the most potent carcinogen ...

NEW YORK, August 11 – Neurologists and epilepsy researchers from NYU Langone Medical Center were among scientists who have 329 random genetic mutations associated with two of the most severe forms of epilepsy, according to a paper published today in Nature. Though well-known that many forms of epilepsy are strongly influenced by genetics, there has been relatively little progress in identifying the genetic differences that contribute to most forms of epilepsy. This study sheds light on why some with an elevated risk for epilepsy never get the disease and why certain medications ...

The findings by the University of Michigan Frankel Cardiovascular Center will be published in the September issue of Pediatrics. While some habits were the same for all overweight and obese children, the study found some gender differences in the habits influencing body weight. Data from 1,714 sixth grade students enrolled in Project Healthy Schools showed girls who drank two servings of milk each day were less likely to be obese, and boys who played on a sports team were also at a healthier weight. "Additional work is needed to help us understand the beneficial impact ...

Research groups at Johannes Gutenberg University Mainz (JGU) and the Physical-Technical Federal Institute (PTB) in Braunschweig, working in collaboration with scientists at the University of Ulm and The Hebrew University of Jerusalem, have been investigating the formation of defects occurring when a Coulomb crystal of ions is driven through a second-order phase transition. For this purpose, they compressed one-dimensional linear chains of ions at high speeds to form a two-dimensional zigzag structure with a form similar to that of an accordion. This process can lead to ...

Humans originated in Africa. But what route did they take as they began to disperse around the world 60,000 years ago? A new professor at the University of Huddersfield has played a key role in finding the answer to one of the most fundamental questions in the history of mankind. Professor Richards, who moved to Huddersfield from the University of Leeds, is a pioneer in the field -- one of just two professors of archaeogenetics in the world. He uses DNA evidence to study human origins, comparing data from modern samples across the world and occasionally to that which ...

Just under a third of young Swiss men prefer beer when they drink alcohol, taking in at least two thirds of their alcohol consumption in the form of the beverage. Far fewer (around five percent) prefer wine. Is there an association between the preference for particular alcoholic beverages and a riskier approach to alcohol or other substances? This is what researchers from the Institute of Social and Preventive Medicine at the University of Zurich and Lausanne University Hospital wanted to find out by conducting a survey of around 5,400 men with an average age of 20 as part ...

A Professor from The University of Manchester has had his name immortalised as a new species of fly. Professor Richard Preziosi, from the Faculty of Life Sciences, said he was delighted with the unusual tribute from researcher Dr. Dave Penney. It follows his continued support of Dr. Penney's unfunded research into amber rocks which he has been investigating for around 20 years. Dr. Penney discovered the new species of fly, which he has named Proceroplatus preziosii, on the Caribbean island of Hispaniola, after finding a fossil in 16 million-year-old amber from the ...

Alan Carleton's team from the Neuroscience Department at the University of Geneva (UNIGE) Faculty of Medicine has just shown that the representation of an odor evolves after the first breath, and that an olfactory retentivity persists at the central level. The phenomenon is comparable to what occurs in other sensory systems, such as vision or hearing. These movements undoubtedly enable the identification of new odors in complex environments or participate in the process of odor memorization. This research is the subject of a publication in the latest online edition of the ...

This news release is available in German. Scientists would love to know which forces created our universe some 14 billion years ago. How could – due to a breaking of symmetry – matter, and thus stars and galaxies, be created from an originally symmetrical universe in which the same conditions prevailed everywhere shortly after the Big Bang. Now, the Big Bang is an experiment that cannot be repeated. But the principle of symmetry and its disturbance can definitely be investigated under controlled laboratory conditions. For this purpose, scientists from the Excellence ...

Washington D.C., August 12, 2013 – A study published in the August 2013 issue of the Journal of the American Academy of Child and Adolescent Psychiatry demonstrates support for the changes in autism symptom structure for toddlers with autism spectrum disorder (ASD found in the newly released Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5)). Using a sample of 237 toddlers (aged 12-30 months) diagnosed with ASD by expert clinicians, a group of researchers from Florida State University (FSU), the National Institute of Mental Health (NIMH), and ...

The relationship between body mass index (BMI) and mortality appears to be stronger in adults without diabetes than those with existing diabetes. These findings¹ are published in the Journal of General Internal Medicine² in a study by Chandra Jackson of the Harvard School of Public Health and colleagues. The researchers suggest that studies on body weight and mortality should take into account the impact of diabetes status in the population. In their analysis, Jackson's team used data from a nationally representative sample of 74,710 Black and White American adults between ...

Preliminary research out of the University of Cincinnati is providing a rare look at the construction of masculinity on the covers of mainstream and gay-themed sports magazines. The research by Jodi Stooksberry and J. A. Carter, both doctoral students in the UC Department of Sociology, was presented at the 108th annual meeting of the American Sociological Association in New York, N.Y. Stooksberry and Carter did a comparative analysis of two sports magazines: Sports Illustrated, one of the nation's most recognized mainstream sports magazines, and Compete. Published out ...

The synapses in the brain act as key communication points between approximately one hundred billion neurons. They form a complex network connecting various centres in the brain through electrical impulses. New research from Lund University suggests that it is precisely here, in the synapses, that Huntington's disease might begin. The researchers at Lund University looked into the brains of mice with real-time imaging methods, following some of the very first stages of the disease through advanced microscopes. What they discovered was an unprecedented degradation of synaptic ...

Todd Callais, an assistant professor at the University of Cincinnati's Blue Ash College, is one of the select sociologists from across the world to be named to present at the annual meeting of the American Sociological Association. Professor Callais' presentation, Music and Social Movements: Historical Hip-Hop Participation Frames and Modern Rap as Social Movement Participation, explores the evolution of hip-hop from party music into a political platform. Callais focused on this particular music industry because of its impact on society and because there is a clear ...