Two independent groups of researchers — one led by Adrian Clark, at Queen Mary University of London, United Kingdom; and the other led by Jean-Laurent Casanova, at The Rockefeller University, New York — have now identified the disease-causing gene in patients with a complex inherited syndrome most commonly observed in the Irish Traveller community. As noted by Jordan Orange, at the University of Pennsylvania School of Medicine, Philadelphia, in an accompanying commentary, the new data provide deep mechanistic insight into a complex human condition and expand our understanding ...

Children with Down syndrome (DS) have an increased risk of developing leukemia, in particular acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL). Through their studies in a mouse model of DS, a team of researchers led by John Crispino, at Northwestern University, Chicago, has now identified a potential explanation as to why children with DS are at increased risk of AMKL. In doing so, they have also identified a candidate therapeutic target. DS is a genetic condition in which a person has an extra copy of chromosome 21 (they have 3 copies rather ...

EDITOR'S PICK: Unraveling why children with Down syndrome have increased leukemia risk Children with Down syndrome (DS) have an increased risk of developing leukemia, in particular acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL). Through their studies in a mouse model of DS, a team of researchers led by John Crispino, at Northwestern University, Chicago, has now identified a potential explanation as to why children with DS are at increased risk of AMKL. In doing so, they have also identified a candidate therapeutic target. DS is a genetic ...

Researchers from UCLA's Jonsson Comprehensive Cancer Center, together with scientists from 12 other sites in the United States and Australia, report for the first time that a newly approved drug for patients with metastatic melanoma nearly doubles median survival times, a finding that will change the way this deadly form of skin cancer is treated. The data comes from an international Phase II study of Zelboraf that included 132 patients followed for at least one year. Patients with this advanced form of melanoma that has spread to other organs typically survive about ...

The Virginia Tech – Wake Forest University School of Biomedical Engineering and Sciences (SBES) announces the first ever publication with data on head impacts from youth football players. The paper is published in the Annals of Biomedical Engineering and is available online for free download. The manuscript includes the details of over 700 head impacts measured on 7 and 8 year old youth football players. Based on the importance of this initial publication, the School of Biomedical Engineering and Sciences is also announcing today a new study to instrument and map the ...

Nursing homes are supposed to provide quality care, but recent studies raise concerns that some of these homes put our elderly population at increased risk of injury and death. The studies, conducted by both the Government Accountability Office and Health Services Research, found well-known nursing home chains often violate federal regulations in ways that can lead to increased risk of nursing home injuries. Connection Between For-Profit Facilities and Poor Care The Government Accountability Office published a study in July of 2011, reviewing complaints that for-profit ...

CAMBRIDGE, Mass. (February 22, 2012) – If you were to discover that a fundamental component of human biology has survived virtually intact for the past 25 million years, you'd be quite confident in saying that it is here to stay. Such is the case for a team of Whitehead Institute scientists, whose latest research on the evolution of the human Y chromosome confirms that the Y—despite arguments to the contrary—has a long, healthy future ahead of it. Proponents of the so-called rotting Y theory have been predicting the eventual extinction of the Y chromosome since it was ...

Bird migration timing across North America has been affected by climate change, according to a study published Feb. 22 in the open access journal PLoS ONE. The results are based on a systematic analysis of observations from amateur birdwatchers. This citizen science approach provided access to data for 18 common North American bird species, including orioles, house wrens, and barn swallows, across an unprecedented geographical region. The researchers, led by Allen Hurlbert of University of North Carolina, Chapel Hill, found that the average arrival time for all species ...

Workers face many dangers on construction sites, including falls from heights and unsafe scaffolds or ladders. At any busy worksite, construction workers are also at risk of being struck by falling objects. A recent New York Court of Appeals opinion, Wilinski v. 334 East 92nd Housing Development Fund, considered a worker's remedies for a Manhattan construction accident that occurred during demolition of a brick wall in a vacant warehouse. The worker suffered serious and lasting injuries when he was struck on the head, shoulder and arm by two ten-foot long, four-inch ...

Stress is known to lead to short-term escape behavior, and new research on elephants in South Africa shows that it can also cause long-term escape behavior, affecting the extent that elephants use their habitat. The work is published Feb. 22 in the open access journal PLoS ONE. The researchers, led by David Jachowski of the University of Missouri, measured levels of FGM (fecal glucocorticoid metabolite), a proxy of physiological stress, and land use patterns for three different elephant populations, and found that higher FGM was associated with 20-43% lower land usage. ...

Like drivers in every other state, South Carolina motorists face their share of hazards that lead to car, truck and motorcycle accidents. From drunk drivers to dangerous roadways and defective tires or brakes, there are often several reasons why an accident occurred and people suffered injuries. One common factor from coast to coast: inexperienced drivers pose more than their share of risks to themselves and other motorists and passengers as they learn to drive in various types of weather and traffic. A recent study published by the AAA Foundation for Traffic Safety ...

Nanoparticles have many useful applications, but also raise some potential health and ecological concerns. Now, new research shows that plastic nanoparticles are transported through the aquatic food chain and affect fish metabolism and behavior. The full report is published Feb. 22 in the open access journal PLoS ONE. Exposing fish to nanoparticles slowed their feeding behavior, and also affected metabolic parameters including weight loss and cholesterol levels and distribution. The authors, led by Tommy Cedervall, Lars-Anders Hansson and Sara Linse of Lund University ...

Researchers have discovered an extremely old anthropomorphic figure engraved in rock in Brazil, according to a report published Feb. 22 in the open access journal PLoS ONE. The petroglyph, which dates to between 9,000 and 12,000 years old, is the oldest reliably dated instance of such rock art yet found in the Americas. Art from this time period in the New World is quite rare, so little is known about the diversity of symbolic thinking of the early American settlers. The authors of this study, led by Walter Neves of the University of Sao Paulo, write that their findings ...

A fundamental discovery reported in the March 1st issue of the journal Nature, uncovers the first molecular evidence linking the body's natural circadian rhythms to sudden cardiac death (SCD). Ventricular arrhythmias, or abnormal heart rhythms, are the most common cause of sudden cardiac death: the primary cause of death from heart disease. They occur most frequently in the morning waking hours, followed by a smaller peak in the evening hours. While scientists have observed this tendency for many years, prior to this breakthrough, the molecular basis for these daily patterns ...

Florida is the deadliest state in the nation for pedestrians and is extremely dangerous for cyclists, according to a national study in USA Today. The Miami area is especially prone to many of the accidents and injuries associated with high density pedestrian, cyclist and motorist traffic. The Florida Department of Transportation (DOT) is bringing awareness and a sense of urgency to the issue through its new public bicycle and pedestrian accident campaign. Important Statistics Regarding Cyclist and Pedestrian Injuries and Fatalities According to a national study ...

HOUSTON -- (Feb. 23, 2012) – Sudden cardiac death –catastrophic and unexpected fatal heart stoppage – is more likely to occur shortly after waking in the morning and in the late night. In a report in the journal Nature (http://www.nature.com/nature/index.html), an international consortium of researchers that includes Case Western Reserve University School of Medicine (http://casemed.case.edu/) in Cleveland and Baylor College of Medicine (www.bcm.edu) explains the molecular linkage between the circadian clock and the deadly heart rhythms that lead to sudden death. The ...

Uncovering the network of genes regulated by a crucial molecule involved in cancer called mTOR, which controls protein production inside cells, researchers at the University of California, San Francisco (UCSF) have discovered how a protein "master regulator" goes awry, leading to metastasis, the fatal step of cancer. Their work also pinpoints why past drugs that target mTOR have failed in clinical trials, and suggests that a new class of drugs now in trials may be more effective for the lethal form of prostate cancer for which presently there is no cure. Described this ...

BLOOMINGTON, Ind. -- Problems with the correct use of the male condom, such as not wearing a condom throughout sex or putting it on upside down, are common in the U.S. and have become a major concern of public health officials. New research shows that countries around the world are facing similar challenges. An unprecedented collection of condom use studies, published in the journal Sexual Health, provides a global perspective on condom use problems and errors, along with new research on factors influencing correct condom use, how condom use programs can be more effective, ...

Never get stranded with a dead cell phone again. A promising new technology called Power Felt, a thermoelectric device that converts body heat into an electrical current, soon could create enough juice to make another call simply by touching it. Developed by researchers in the Center for Nanotechnology and Molecular Materials at Wake Forest University, Power Felt is comprised of tiny carbon nanotubes locked up in flexible plastic fibers and made to feel like fabric. The technology uses temperature differences – room temperature versus body temperature, for instance – ...

A newly passed broadening of California's third-strike law has the legal authority to keep repeat DUI offenders -- those who have three or more DUI offenses in a ten-year period -- off the road for up to a decade. The law now grants judges the authority to revoke the driving privileges of a person convicted of three or more DUI or alcohol-related offenses in a 10-year period. Some lawmakers -- including California state assemblyman Jerry Hill (D-San Mateo), who authored the bill that was passed into law -- support this measure and think that it could possibly keep up ...

Washington, DC (February 22, 2012) – Today, Marine Conservation Institute filed a formal petition to the Secretary of the Interior and the Secretary of Commerce, asking them to prohibit commercial fishing in America's sensitive and pristine Pacific Island marine national monuments, a ban that President George W. Bush declared when he established the monuments over three years ago. In January 2009, President Bush established three marine monuments in the central Pacific and prohibited commercial fishing in them because they are incredibly rich marine ecosystems that ...

ITHACA, N.Y. – A team of researchers has found a key to the habitat puzzle for improving long-term survival of the endangered Florida Scrub-Jay. New research published online today in The Royal Society's journal Biology Letters shows that "clustered habitat networks" are needed to maintain the genetic diversity of Florida Scrub-Jays, a species at risk of extinction with just more than 5,000 birds left in the world. The new research reveals, for the first time, a direct connection between genetic variation of Florida Scrub-Jay groups and geographic distances separating ...

Washington, D.C. — Superconductivity is a rare physical state in which matter is able to conduct electricity—maintain a flow of electrons—without any resistance. This phenomenon can only be found in certain materials at low temperatures, or can be induced under chemical and high external pressure conditions. Research to create superconductors at higher temperatures has been ongoing for two decades with the promise of significant impact on electrical transmission. New work from a team including Carnegie's Xiao-Jia Chen and Ho-kwang "Dave" Mao demonstrates unexpected superconductivity ...

MMV and partners have completed the first-ever comparative analysis of all currently available and in-development antimalarials in terms of the steps they target in the parasite's lifecycle. This information provides the missing pieces of the puzzle needed to develop future medicines able to block transmission of the parasite from person to person. Current medicines mostly target the malaria parasite at the blood stage in its lifecycle because this is the step that leads to clinical symptoms. To be able to block transmission of the parasite, however, we need to be able ...

The notion of a pain switch is an alluring idea, but is it realistic? Well, chemists at LMU Munich, in collaboration with colleagues in Berkeley and Bordeaux, have now shown in laboratory experiments that it is possible to inhibit the activity of pain-sensitive neurons using an agent that acts as a photosensitive switch. For the LMU researchers, the method primarily represents a valuable tool for probing the neurobiology of pain. (Nature Methods, 19.02.2012) The system developed by the LMU team, led by Dirk Trauner, who is Professor of Chemical Biology and Genetics, is ...