Sanfilippo A syndrome or Mucopolysaccharidosis IIIA (MPS-IIIA) is a rare genetic lysosomal storage disease inherited from the parents of the patient. Lysosomes are the body's vehicle for breaking down many of its by-products such as proteins, nucleic acids, carbohydrates, lipids and cellular debris. The spherical vesicles are known to contain 50 different enzymes which are all active around an acidic environment of about pH 5. Whilst each lysosomal disorder results from different gene mutations that translate into a deficiency in enzyme activity, they all share a common ...

This news release is available in German. Thanks to a fungus, the medicinal plant ribwort plantain gains a higher concentration of the defensive compound catalpol. Biologists at Bielefeld University report this discovery in a study to be published this Thursday (22.5.2014) in the scientific journal 'Nature Communications'. The increase in catalpol gives the plant better protection against pests. In the study, the research team worked with arbuscular mycorrhizal fungi. These are known to colonize the roots of land plants. The plants benefit from this, because the fungus ...

Slight modifications in their genome sequences play a crucial role in the conversion of pluripotent stem cells into various differentiated cell types. A team at Ludwig-Maximilians-Universitaet (LMU) in Munich has now identified the factor responsible for one class of modification. Every cell contains stored hereditary information, encoded in the sequence of nucleobases that make up its DNA. However, in any given cell type, only a fraction of this information is actually used. Which genes are activated and which are turned off is in part determined by a second tier of ...

TORONTO, May 22, 2014 -- Researchers at St. Michael's Hospital have shown for the first time that, in addition to weight loss, a specific low-carbohydrate diet may also reduce the risk of heart disease by 10 per cent over 10 years. The diet, often called Eco-Atkins, is a low-carbohydrate vegan diet. Many low-carbohydrate diets have been proven to improve weight loss but most emphasize eating animal proteins and fats, which may raise cholesterol. Diets that are high in vegetable proteins and oils may reduce the risk of heart disease by lowering "bad cholesterol." "We ...

Medical students use social media extensively, but medical schools may need to offer more guidance in potential pitfalls, according to Penn State College of Medicine researchers. "We assessed how medical students engage with social media platforms like Facebook and found that they have a pretty sophisticated understanding of its risks and benefits," said Daniel R. George, assistant professor of humanities. He and Dr. Michael J. Green, professor of humanities, conducted two studies that report findings from a survey of 2,109 medical students nationwide. In the first ...

DURHAM, N.C. -- Most schools across the United States provide simple vision tests to their students--not to prescribe glasses, but to identify potential problems and recommend a trip to the optometrist. Researchers are now on the cusp of providing the same kind of service for autism. Researchers at Duke University have developed software that tracks and records infants' activity during videotaped autism screening tests. Their results show that the program is as good at spotting behavioral markers of autism as experts giving the test themselves, and better than non-expert ...

An unlit, deserted car park at night, footsteps in the gloom. The heart beats faster and the stomach ties itself in knots. We often feel threatening situations in our stomachs. While the brain has long been viewed as the centre of all emotions, researchers are increasingly trying to get to the bottom of this proverbial gut instinct. It is not only the brain that controls processes in our abdominal cavity; our stomach also sends signals back to the brain. At the heart of this dialogue between the brain and abdomen is the vagus nerve, which transmits signals in both directions ...

DOWNERS GROVE, Ill. – May 21, 2014 – According to a new systematic review article, radiofrequency ablation and complete endoscopic resection are equally effective in the short-term treatment of dysplastic Barrett's esophagus, but adverse event rates are higher with complete endoscopic resection. The article comparing the two treatments appears in the May issue of GIE: Gastrointestinal Endoscopy, the monthly peer-reviewed scientific journal of the American Society for Gastrointestinal Endoscopy (ASGE). Barrett's esophagus is a condition in which the lining of the esophagus ...

(MEMPHIS, Tenn. – May 20, 2014) Researchers have demonstrated that an enzyme required for animal survival after birth functions like an umpire, making the tough calls required for a balanced response to signals that determine if cells live or die. St. Jude Children's Research Hospital scientists led the study, which was published online and appears in the May 22 edition of the scientific journal Cell. The work involved the enzyme receptor-interacting protein kinase 1 (RIPK1). While RIPK1 is known to be involved in many vital cell processes, this study shows that its pivotal ...

May 22, 2014-- Researchers from California State University, Long Beach, the University of Kent and the University of Missouri collaborated on a study to test whether briefly exposing participants to alcohol-related terms increases aggressive behavior. It has been well documented by previous research that the consumption of alcohol is directly linked to an increase in aggression and other behavioral extremes. But can simply seeing alcohol-related words have a similar effect on aggressive behavior? Designing the experiment The study, published in the journal Personality ...

WASHINGTON, May 22, 2014—If future generations were to live and work on the moon or on a distant asteroid, they would probably want a broadband connection to communicate with home bases back on Earth. They may even want to watch their favorite Earth-based TV show. That may now be possible thanks to a team of researchers from the Massachusetts Institute of Technology's (MIT) Lincoln Laboratory who, working with NASA last fall, demonstrated for the first time that a data communication technology exists that can provide space dwellers with the connectivity we all enjoy here ...

CML has been a research topic for more than five decades, due to its wide applications in propulsion design. Mixing in CML is controlled by the compressibility effects of velocity and density variations over the mixing layer, and quantified by the growth rate of CML. However, the lack of understanding of various definitions of mixing thicknesses has yielded scatter in analyzing experimental data. Prof. SHE ZhenSu and his colleagues at the State Key Laboratory for Turbulence and Complex Systems, Peking University investigated the growth of compressible mixing layer by introducing ...

Two-photon excitation fluorescence is growing in popularity in the bioimaging field but is limited by fluorophores' extremely low two-photon absorption cross-section. The researcher Dr. Guowei Lu and co-workers from State Key Laboratory for Mesoscopic Physics, Department of Physics, Peking University, are endeavoring to develop efficient fluorescent probes with improved two-photon fluorescence (TPF) performance. They theoretically present a promising bright probe using gold nanoshell to improve the TPF performances of fluorescent emitters. Their work, entitled "Plasmonic-Enhanced ...

A new Stanford study finds that due to an average 3.5 degrees Fahrenheit of warming expected by 2040, yields of wheat and barley across Europe will drop more than 20 percent. New Stanford research reveals that farmers in Europe will see crop yields affected as global temperatures rise, but that adaptation can help slow the decline for some crops. For corn, the anticipated loss is roughly 10 percent, the research shows. Farmers of these crops have already seen yield growth slow down since 1980 as temperatures have risen, though other policy and economic factors have ...

The so-called symbiotic relationship between trees and the fungus that grow on their roots may actually work more like a capitalist market relationship between buyers and sellers, according to the new study published in the journal New Phytologist. Recent experiments in the forests of Sweden had brought into a question a long-held theory of biology: that the fungi or mycorrhizae that grow on tree roots work with trees in a symbiotic relationship that is beneficial for both the fungi and the trees, providing needed nutrients to both parties. These fungi, including many ...

Vast amounts of excess heat are generated by industrial processes and by electric power plants. Researchers around the world have spent decades seeking ways to harness some of this wasted energy. Most such efforts have focused on thermoelectric devices – solid-state materials that can produce electricity from a temperature gradient – but the efficiency of such devices is limited by the availability of materials. Now researchers at Stanford University and the Massachusetts Institute of Technology have found a new alternative for low-temperature waste-heat conversion into ...

Philadelphia, PA, May 22, 2014 – The list of brain receptor targets for opiates reads like a fraternity: Mu Delta Kappa. The mu opioid receptor is the primary target for morphine and endogenous opioids like endorphin, whereas the delta opioid receptor shows the highest affinity for endogenous enkephalins. The kappa opioid receptor (KOR) is very interesting, but the least understood of the opiate receptor family. Until now, the mu opioid receptor received the most attention in alcoholism research. Naltrexone, a drug approved by the U.S. Food and Drug Administration for ...

Washington D.C., May 22, 2014 – A study published in the June 2014 issue of the Journal of the American Academy of Child and Adolescent Psychiatry found a very much higher discharge rate for pediatric bipolar (PBD) in children and adolescents aged 1-19 years in the US compared to England between the years 2000-2010. Using the English NHS Hospital Episode Statistics (HES) dataset and the US National Hospital Discharge Survey (NHDS) to compare US and English discharge rates for PBD over the period 2000-2010, the authors found a 72.1-fold higher discharge rate for pediatric ...

Lubricants are used in motors, axels, ventilators and manufacturing machines. Although lubricants are widely used, there have been almost no fundamental innovations for this product in the last twenty years. Together with a consortium, the Fraunhofer Institute for Mechanics of Materials IWM in Freiburg has developed an entirely new class of substance that could change everything: liquid crystalline lubricant. Its chemical makeup sets it apart; although it is a liquid, the molecules display directional properties like crystals do. When two surfaces move in opposite directions, ...

Palaeontology has traditionally proceeded slowly, with individual scientists labouring for years or even decades over the interpretation of single fossils which they have gradually recovered from entombing rock, sand grain by sand grain, using all manner of dental drills and needles. The introduction of X-ray tomography has revolutionized the way that fossils are studied, allowing them to be virtually extracted from the rock in a fraction of the time necessary to prepare specimens by hand and without the risk of damaging the fossil. The resulting fossil avatars not ...

There are thousands of drugs that silence many thousands of cancer-causing genetic abnormalities. Some of these drugs are in use now, but many of these drugs are sitting on shelves or could be used beyond the disease for which they were originally approved. Repurposing these drugs depends on matching drugs to targets. A study recently published in the journal Bioinformatics describes a new database and pattern-matching algorithm that allows researchers to evaluate rational drugs and drug combinations, and also recommends a new drug combination to treat drug-resistant non-small ...

LA JOLLA, CA – May 22, 2014 – Accumulation of DNA damage can cause aggressive forms of cancer and accelerated aging, so the body's DNA repair mechanisms are normally key to good health. However, in some diseases the DNA repair machinery can become harmful. Scientists led by a group of researchers at The Scripps Research Institute (TSRI) in La Jolla, CA, have discovered some of the key proteins involved in one type of DNA repair gone awry. The focus of the new study, published in the May 22, 2014 edition of the journal Cell Reports, is a protein called Ring1b. The TSRI ...

BALTIMORE – May 21, 2014. Researchers at the University of Maryland School of Medicine have identified a mutation in a fat-storage gene that appears to increase the risk for type 2 diabetes and other metabolic disorders, according to a study published online today in the New England Journal of Medicine. The researchers discovered the mutation in the hormone-sensitive lipase (HSL) gene by studying the DNA of more than 2,700 people in the Old Order Amish community in Lancaster County, Pa. HSL is a key enzyme involved in breaking down stored fat (triglycerides) into fatty ...

Boulder, Colo., USA – Researcher John Sinton of the University of Hawai'i along with colleagues from the Monterrey Bay Aquarium and the French National Center for Scientific Research have announced the discovery of an ancient Hawaiian volcano. Now located in a region of shallow bathymetry extending about 100 km WNW from Ka'ena Point at the western tip of O'ahu, this volcano, which they have named Ka'ena, would have risen about 1,000 meters above sea level 3.5 million years ago. Sinton and colleagues have found compelling evidence beneath the sea that this long-lived ...

CHAMPAIGN, Ill. — Everything you think you know about the causes of rising obesity in the U.S. might be wrong, researchers say in a new report. Contrary to popular belief, people are exercising more today, have more leisure time and better access to fresh, affordable food – including fruits and vegetables – than they did in past decades. And while troubling disparities exist among various groups, most economic, educational, and racial or ethnic groups have seen their obesity levels rise at similar rates since the mid-1980s, the researchers report. The new analysis appears ...