Researchers at the University of Arizona have successfully determined the genetic mutations causing severe epilepsies in seven out of 10 children for whom the cause of the disorder could not be determined clinically or by conventional genetic testing. Instead of sequencing each gene one at a time, the team used a technique called whole-exome sequencing: Rather than combing through all of the roughly 3 billion base pairs of an individual's entire genome, whole-exome-sequencing deciphers only actual genes, and nearly all of them simultaneously. "My initial hope was that ...

Scientists have long believed that measuring the amount of HIV in a person's blood is an indicator of whether the virus is actively reproducing. A University of Delaware-led research team reports new evidence that hidden virus replication may be occurring within the body's tissue, despite undetectable virus levels in the blood. The findings were reported in the Journal of the Royal Society Interface on May 8 in a paper titled "Modelling HIV-1 2-LTR dynamics following raltegravir intensification." The discovery came after the paper's lead author, Ryan Zurakowski, ...

Sydney, Australia -- Researchers from the University of New South Wales have cautioned that more work is needed to understand how micro-organisms respond to the disinfecting properties of silver nano-particles, increasingly used in medical and environmental applications. Although nanosilver has effective antimicrobial properties against certain pathogens, overexposure to silver nano-particles can cause other potentially harmful organisms to rapidly adapt and flourish, a UNSW study reveals. This result, published in the journal Small, could have wide-reaching implications ...

ORLANDO, Fla., May 8, 2013 – Researchers discovered that small pieces of genetic material called microRNAs link the two defining characteristics of fit muscles: the ability to burn sugar and fat and the ability to switch between slow- and fast-twitch muscle fibers. The team used two complementary mouse models—the "marathon mouse" and the "couch potato mouse"—to make this discovery. But what's more, they also found that active people have higher levels of one of these microRNAs than sedentary people. These findings, published May 8 in The Journal of Clinical Investigation, ...

SAN DIEGO – While the percentage of kidney transplants involving live donors has remained stable for other minority populations, African Americans have seen a decline in live donors even as more of them receive kidney transplants, according to a study by Henry Ford Hospital in Detroit. Those findings will be presented May 8 at the annual meeting of the American Urological Association in San Diego. "African American race has been associated with disparities in care at every step of the kidney transplant process," says Jesse D. Sammon, D.O., a researcher at Henry Ford's ...

Minneapolis, MN, May 8, 2013 – Tumors have the potential to grow locally and invade neighboring organs. Some chest tumors may invade one of the great vessels of the body, the aorta. Surgical removal of these tumors is very challenging and necessitates the support of a heart-lung machine. Therefore there is an increased risk of complication and death. In a small series of patients, placing a stent within the aorta facilitated the subsequent removal of tumor and eliminated the need for heart-lung bypass. A report of these results is presented by Stéphane Collaud, MD, MSc, ...

Gene replacement in pigs ameliorates cystic fibrosis-associated intestinal obstruction Cystic fibrosis (CF) is caused by mutations in CFTR and is characterized by dysfunction of the lungs, liver, pancreas, and intestines. Approximately 15% of babies with CF are born with an obstruction of the small intestine known as meconium ileus, frequently the first sign of CF. Unlike in humans, meconium ileus occurs in 100% of newborn CF pigs. In this issue of the Journal of Clinical Investigation, Michael Welsh and colleagues at the University of Iowa demonstrate that transgenic ...

Cystic fibrosis (CF) is caused by mutations in CFTR and is characterized by dysfunction of the lungs, liver, pancreas, and intestines. Approximately 15% of babies with CF are born with an obstruction of the small intestine known as meconium ileus, frequently the first sign of CF. Unlike in humans, meconium ileus occurs in 100% of newborn CF pigs. In this issue of the Journal of Clinical Investigation, Michael Welsh and colleagues at the University of Iowa demonstrate that transgenic expression of normal CFTR in the intestine of CF pigs alleviated meconium ileus. Over time, ...

Alzheimer's disease is characterized by the accumulation of neurotoxic β-amyloid peptide (A-beta). ADAM10, a protein that resides in the neural synapses, has previously been shown to prevent the formation of A-beta. In this issue of the Journal of Clinical Investigation, Monica Di Luca and colleagues at the University of Milan in Milan, Italy, report that ADAM10 is removed from synapses through association with the protein AP2. Strikingly, the association between ADAM10 and AP2 was increased in human brain homogenates from Alzheimer's disease (AD) patients compared ...

How does San Francisco Giants slugger Pablo Sandoval swat a 95 mph fastball, or tennis icon Venus Williams see the oncoming ball, let alone return her sister Serena's 120 mph serves? For the first time, vision scientists at the University of California, Berkeley, have pinpointed how the brain tracks fast-moving objects. The discovery advances our understanding of how humans predict the trajectory of moving objects when it can take one-tenth of a second for the brain to process what the eye sees. That 100-millisecond holdup means that in real time, a tennis ball moving ...

VIDEO: This is the article as it appears on jove.com. Click here for more information. On May 8th JoVE will publish research that demonstrates how a biosensor can detect antibiotic resistance in bacteria. This new technology is a preliminary step in identifying and fighting superbugs, a major public health concern that has led to more deaths than AIDS in the United States in recent years. The technology is the result of collaboration between Dr. Vitaly Vodyanoy at Auburn University ...

AURORA, Colo. (May 8, 2013) – Scientists have discovered that fat cells in the knee secrete a protein linked to arthritis, a finding that paves the way for new gene therapies that could offer relief and mobility to millions worldwide. "We found that fat in the knee joints secretes a protein called pro-factor D which gives rise to another protein known as factor D that is linked to arthritis," said Nirmal Banda, Ph.D., associate professor of medicine in the Division of Rheumatology at the University of Colorado School of Medicine. "Without factor D, mice cannot get rheumatoid ...

A new genomic test for prostate cancer can help predict whether men are more likely to harbor an aggressive form of the disease, according to a new UC San Francisco study. The test, which improves risk assessment when patients are first diagnosed, can also aid in determining which men are suitable for active surveillance – a way of managing the disease without direct treatment. Prostate cancer often grows slowly, and many of the quarter-million patients diagnosed annually in the United States never need treatment, which typically involves surgery, radiation or both. ...

Swedish and Spanish engineers have created a system of sensors that detects fruit odours more effectively than the human sense of smell. For now, the device can distinguish between the odorous compounds emitted by pears and apples. Researchers from the Polytechnic University of Valencia (UPV, Spain) and the University of Gävle (Sweden) have created an electronic nose with 32 sensors that can identify the odours given off by chopped pears and apples. "The fruit samples are placed in a pre-chamber into which an air flow is injected which reaches the tower with the sensors ...

Researchers at the University of Strathclyde have discovered that the greater wax moth is capable of sensing sound frequencies of up to 300kHz – the highest recorded frequency sensitivity of any animal in the natural world. Humans are only capable of hearing sounds of 20kHz maximum, dropping to around 12-15kHz as we age, and even dolphins, known exponents of ultrasound, can't compete as their limitations are around 160kHz. The research, conducted at the University's Centre for Ultrasonic Engineering, has identified the extraordinary sensory characteristics of the moth, ...

Amsterdam, May 8, 2013 – Elsevier, a world-leading provider of scientific, technical and medical information products and services, announced today the publication of a clinical guide by the European Menopause and Andropause Society (EMAS) in the journal Maturitas on endometrial assessment in peri and postmenopausal women with summary recommendations. The main onus of endometrial assessment is to exclude carcinoma of the endometrium and premalignant endometrial hyperplasia. Assessment of the endometrium in the absence of bleeding should be limited to women at high risk ...

To understand how proteins work it is important to know their three-dimensional shape, but also the way it is produced. We need to know, in other words, how the amino acid filament which makes up the proteins is capable of folding over itself to take on a specific shape. Today the study of molecular dynamics of proteins is based on computer simulations in which the system is treated as a three-dimensional set of balls (1 ball = 1 atom) observed while it evolves through time. This is a very accurate but rather slow technique, therefore a group of researchers, including ...

COLUMBUS, Ohio – Adding captivating visuals to a textbook lesson to attract children's interest may sometimes make it harder for them to learn, a new study suggests. Researchers found that 6- to 8-year-old children best learned how to read simple bar graphs when the graphs were plain and a single color. Children who were taught using graphs with images (like shoes or flowers) on the bars didn't learn the lesson as well and sometimes tried counting the images rather than relying on the height of the bars. "Graphs with pictures may be more visually appealing and engaging ...

A small piece of paper sticks to an electrically charged plastic ruler. The principle of this simple classroom physics experiment is applied at the microscopic scale by so-called optical tweezers to get the likes of polystyrene micro-beads and even living cells to "stick" to a laser beam, or to trap atoms at ultra-low temperatures. Physicist Fam Le Kien and his colleagues from the Institute of Atomic and Subatomic Physics of the Vienna University of Technology, Austria, provide a comprehensive manual with general theoretical tools, definitions, and spectroscopic data sets ...

Bethesda, MD (May 8, 2013) — The editors of Gastroenterology, the official journal of the American Gastroenterological Association (AGA) Institute, are pleased to announce the publication of this year's highly anticipated special 13th issue. Published each May, the 13th issue is devoted to a particular gastroenterological topic of broad interest; this year's topic is the biology, diseases and therapy of the pancreas. To access the 13th issue in its entirety, please visit http://www.gastrojournal.org/issues?issue_key=S0016-5085(13)X0005-8. In conjunction with Editor-in-Chief ...

ST. LOUIS, MO – May 8, 2013 – Certara™, a leading provider of software and scientific consulting services to improve productivity and decision-making from drug discovery through drug development, announced that its Pharsight Consulting Services has developed a mathematical model of tumor growth inhibition, which when combined with baseline prognostic factors, predicts treatment effect with bevacizumab for patients with metastatic colorectal cancer. These results are now published online in the Journal of Clinical Oncology. A copy of the results can be obtained here, together ...

Consumption of whole walnuts or their extracted oil can reduce cardiovascular risk through a mechanism other than simply lowering cholesterol, according to a team of Penn State, Tufts University and University of Pennsylvania researchers. "We already know that eating walnuts in a heart-healthy diet can lower blood cholesterol levels," said Penny Kris-Etherton, Distinguished Professor of Nutrition, Penn State. "But, until now, we did not know what component of the walnut was providing this benefit. Now we understand additional ways in which whole walnuts and their oil ...

By means of special metamaterials, light and sound can be passed around objects. KIT researchers now succeeded in demonstrating that the same materials can also be used to specifically influence the propagation of heat. A structured plate of copper and silicon conducts heat around a central area without the edge being affected. The results are presented in the Physical Review Letters journal. "For the thermal invisibility cloak, both materials have to be arranged smartly," explains Robert Schittny from KIT, the first author of the study. Copper is a good heat conductor, ...

Most of the chemical elements have their origin in core collapse supernovae. When a star ends its life in a gigantic starburst, it throws most of its mass into space. The radioactive iron isotope Fe-60 is produced almost exclusively in such supernovae. Because its half-life of 2.62 million years is short compared to the age of our solar system, no supernova iron should be present on Earth. Therefore, any discovery of Fe-60 on Earth would indicate a supernova in our cosmic neighborhood. In the year 2004, Fe-60 was discovered on Earth for the first time in a ferromanganese ...

They're ba-ack! But in a new disease-fighting role. Viruses that infect and kill bacteria — used to treat infections in the pre-antibiotic era a century ago and in the former Soviet Union today — may have a new role in preventing formation of the sticky "biofilms" of bacteria responsible for infections on implanted medical devices. That's the topic of a report in the ACS journal Biomacromolecules. Marek Urban and colleagues explain that bacteriophages (literally, "bacteria eaters") were first used to treat bacterial infections in the 19th century. These viruses — more ...