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Archive - Apr 9, 2013

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Heart Disorder Gene Variants Found in Some Stillbirth Cases

In a first-of-its-kind study, researchers from the United States and Europe have discovered genetic mutations associated with long QT syndrome (LQTS), a genetic abnormality in the heart's electrical system, in a small number of intrauterine fetal deaths, according to a study published in the April 10 issue of the Journal of the American Medical Association (JAMA). Researchers conducted a molecular genetic evaluation (referred to as a postmortem cardiac channel molecular autopsy) in 91 cases of unexplained fetal death (stillbirths) from 2006-2012. They discovered the prevalence of mutations in the three most common LQTS-susceptible genes, KCNQ1, KCNH2, and SCN5A. Two of the most common genes were discovered in three cases (KCNQ1 and KCNH2); and five of the cases exhibited SCN5A rare non-synonymous genetic variants. Intrauterine fetal death or stillbirth happens in approximately one of every 160 pregnancies and accounts for 50 percent of all perinatal deaths. "We know that the post-mortem evaluation often has not been able to explain these deaths," says Michael J. Ackerman, M.D., Ph.D., pediatric cardiologist at the Mayo Clinic and co-study senior author along with Peter J. Schwartz, M.D., Ph.D., of the University of Pavia, Italy. "Those of us who study LQTS and treat LQTS patients have often wondered whether LQTS may be the cause of some of these deaths." In the study, more than 1,300 ostensibly healthy individuals served as controls. In addition, publicly available exome (the entire portion of the genome consisting of protein-coding sequences) databases were assessed for the general population frequency of identified genetic variances. "Our preliminary evidence suggests that LQTS may be the cause for approximately 5 percent of otherwise unexplained stillbirths and points to the need for further large-scale studies," says Dr.

Massive Family-Based Study Confirms Multiple Genes Contribute to Risk of Schizophrenia

Multiple genes contribute to risk for schizophrenia and appear to function in pathways related to transmission of signals in the brain and immune system, according to an international study led by Virginia Commonwealth University (VCU) School of Pharmacy researchers, and involving scientists at a great number of collaborating institutions. By better understanding the molecular and biological mechanisms involved with schizophrenia, scientists hope to use this new genetic information to one day develop and design drugs that are more efficacious and have fewer side effects. In a study published online on April 9, 2013 in an open-access article in JAMA Psychiatry, the JAMA Network journal, researchers used a comprehensive and unique approach to robustly identify genes and biological processes conferring risk for schizophrenia. The researchers first used 21,953 subjects to examine over a million genetic markers. They then systematically collected results from other kinds of biological schizophrenia studies and combined all these results using a novel data integration approach. The most promising genetic markers were tested again in a large collection of families with schizophrenia patients, a design that avoids pitfalls that have plagued genetic studies of schizophrenia in the past. The genes they identified after this comprehensive approach were found to have involvement in brain function, nerve cell development, and immune response.

How Geckos Adhere to Surfaces Under Water—Clues to Future Synthetics That Will Retain Adhesion in Water

Geckos are known for their sticky adhesive toes that allow them to stick to, climb on, and run along surfaces in any orientation--even upside down! But until recently, it was not well understood how geckos kept their sticking ability even on wet surfaces, as are common in the tropical regions in which most geckos live. A 2012 study in which geckos slipped on wet glass perplexed scientists trying to unlock the key to gecko adhesion in climates with plentiful rain and moisture.A study supported by the National Science Foundation and published online on April 1, 2013 in PNAS solves the mystery, showing that wet, water-repellant surfaces, like those of leaves and tree trunks, actually secure a gecko's grip in a manner similar to dry surfaces. Researchers from the University of Akron, led by integrated bioscience doctoral candidate Alyssa Stark, tested geckos on four different surfaces. The surfaces ranged from hydrophilic--those that liquids spread across when wet, like glass--to hydrophobic--water-repellent surfaces on which liquids bead, like the natural leaves geckos walk on--and intermediate ones, like acrylic sheets. Geckos were tested on these surfaces both when the surfaces were dry and when they were submerged underwater, and water completely covered the gecko's feet. Fitting a small harness around the pelvis, geckos were gently pulled along the substrate until their feet began to slip. At this point the maximum force with which a gecko could stick was measured. On wet glass, geckos slipped and could not maintain adhesion. However when tested on more hydrophobic surfaces, geckos stuck just as well to the wet surface as they did to the dry ones. When tested, geckos stuck even better to wet Teflon than dry.

Use of Copper Surfaces Reduces Number of Healthcare-Acquired Infections

New research has revealed that the use of Antimicrobial Copper surfaces in hospital rooms can reduce the number of healthcare-acquired infections (HAIs) by 58% as compared to patients treated in intensive care units (ICUs) with non-copper touch surfaces. In the United States, 1 out of every 20 hospital patients develops an HAI, resulting in an estimated 100,000 deaths per year. Although numerous strategies have been developed to decrease these infections, Antimicrobial Copper is the only strategy that works continuously, has been scientifically proven to be effective and doesn't depend on human behavior, according to a recently study published in theMay 2013 issue of the SHEA Journal of Infection Control and Hospital Epidemiology. "The implications of this study are critical," said Dr. Harold Michels, Senior Vice President of the Copper Development Association (CDA). "Until now, the only attempts to reduce HAIs have required hand hygiene, increased cleaning, and patient screening, which don't necessarily stop the growth of these bacteria the way copper alloy surfaces do. We now know that copper is the game-changer: it has the potential to save lives." The study, funded by the U.S. Department of Defense, was conducted in the ICUs of three major hospitals: The Medical University of South Carolina, Memorial Sloan-Kettering Cancer Center in New York City, and the Ralph H. Johnson Veterans Affairs Medical Center in Charleston, South Carolina. To determine the impact of copper alloy surfaces on the rate of HAIs, copper-surfaced objects were placed in each ICU, where patients are at higher risk due to the severity of their illnesses, invasive procedures, and frequent interaction with healthcare workers.

“Amazing” Success Reported in Treating Major Depression with Brain-Implanted Pacemaker Electrodes

Researchers from the Bonn University Hospital implanted pacemaker electrodes into the medial forebrain bundle in the brains of patients suffering from major depression with amazing results. In six out of seven patients, symptoms improved both considerably and rapidly. The method of Deep Brain Stimulation had already been tested on various structures within the brain, but with clearly lesser effect. The results of this new study were published online on April 5, 2013 in the renowned international journal Biological Psychiatry. After months of deep sadness, a first smile appears on a patient's face. For many years, she had suffered from major depression and tried to end her life several times. She had spent the past years mostly in a passive state on her couch; even watching TV was too much effort for her. Now this young woman has found her joie de vivre again, enjoys laughing and travelling. She and an additional six patients with treatment-resistant depression participated in a study involving a novel method for addressing major depression at the Bonn University Hospital. Professor Dr. Volker Arnd Coenen, neurosurgeon in the Department of Neurosurgery (Klinik und Poliklinik für Neurochirurgie), implanted electrodes into the medial forebrain bundles in the brains of subjects suffering from major depression with the electrodes being connected to a brain pacemaker. The nerve cells were then stimulated by means of a weak electrical current, a method called Deep Brain Stimulation. In a matter of days, in six out of seven patients, symptoms such as anxiety, despondence, listlessness, and joylessness had improved considerably. "Such sensational success both in terms of the strength of the effects, as well as the speed of the response has so far not been achieved with any other method," says Professor Dr. Thomas E.

Gene Therapy Cures Inherited Vision Disorder in Dogs, Promises Hope for Humans

Researchers have discovered that using two kinds of therapy in tandem may be a knockout combination against inherited disorders that cause blindness. While their study focused on man's best friend, the treatment could help restore vision in people, too. Published online on April 9, 2013 in the journal Molecular Therapy, the study builds on earlier work by Michigan State University (MSU) veterinary ophthalmologist Dr. András Komáromy and colleagues. In 2010, the scientists restored day vision in dogs suffering from achromatopsia, an inherited form of total color blindness, by replacing the mutant gene associated with the condition. While that treatment was effective for most younger dogs, it didn't work for canines older than 1 year. Dr. Komáromy began to wonder if the older dogs' cones – the photoreceptor cells in the retina that process daylight and color – might be too worn out. "Gene therapy only works if the nonfunctional cell that is primarily affected by the disease is not too degenerated," he said. "That's how we came up with the idea for this new study. How about if we selectively destroy the light-sensitive part of the cones and let it grow back before performing gene therapy? Then you'd have a younger, less degenerated cell that may be more responsive to therapy." So, Dr. Komáromy and colleagues recruited more dogs with achromatopsia between 1 and 3 years old. To test their theory, they again performed gene therapy but first gave some of the dogs a dose of a protein called CNTF, which the central nervous system produces to keep cells healthy. At a high enough dose, CNTF’s effect on photoreceptors is a bit like pruning flowers: it partially destroys the receptors, but allows for new growth. "It was a long shot," said Dr. Komáromy, associate professor in MSU's Department of Small Animal Clinical Sciences. But it worked.

New Target and New Drug May Lead to Treatment for Melanoma

Collaborative research presented by the University of Colorado (CU) Cancer Center, the University of North Carolina at Chapel Hill, Harvard Medical School, and the University of Pittsburgh, at the American Association for Cancer Research (AACR) Annual Conference in Washington, D.C., shows that the protein receptor Mer is overexpressed in melanoma and that the investigational drug UNC1062 blocks Mer survival signaling in these cells, killing them. "It's exciting in that Mer receptor expression correlates so perfectly with disease progression. It's tiered – you see a bump in expression as you transition from nevus to melanoma and then again as you transition from melanoma to metastatic disease," says Doug Graham, M.D., Ph.D., investigator at the CU Cancer Center and associate professor of Pediatrics and Immunology at the CU School of Medicine, the paper's senior author. After proving the correlation between Mer receptor expression and disease stage in melanoma tissues from clinical patient samples, Dr. Graham and colleagues wondered what would happen if they interrupted this Mer signaling. Luckily, the University of North Carolina had recently developed a new compound that did just that – UNC1062. The results were dramatic. "We showed decreased survival signaling, increased apoptosis, and decreased growth of the melanoma cells in dishes and in mouse models," Dr. Graham says. It seems that Mer receptors are not only correlated with melanoma progression but are in fact driving the aggressiveness of the disease. "This is the first time there's been an association between Mer and melanoma and the first time to report about this new drug," Dr. Graham says. This news was reported on April 9, 2013. [Press release]