Many men in northern Europe over the age of 60 suffer from the so-called Viking disease, which means that the fingers lock in a bent position. Now researchers at Karolinska Institutet, together with colleagues, have used data from over 7,000 affected individuals to look for genetic risk factors for the disease. The findings, which have been published in Molecular Biology and Evolution, show that three of the strongest risk factors are inherited from Neanderthals. Up to 30 percent of men in northern Europe over 60 suffer from ...

Three young patients with relapsed T-cell leukaemia have now been treated with base-edited T-cells, as part of a ‘bench-to-bedside’ collaboration between UCL and Great Ormond Street Hospital for Children (GOSH). The data from the NHS clinical trial, published in The New England Journal of Medicine and funded by the MRC, shows how donor CAR T cells were engineered using cutting edge gene editing technology to change single letters of their DNA code so they could fight leukaemia. The experience of using the cells in three patients is shared, and includes 13-year-old Alyssa from Leicester, who last year was the first person in the world to ...

A recent study by researchers at Texas Children’s Hospital, Baylor College of Medicine, and Scripps Research Institute has discovered fluorescent dye FM 1-43 as an effective and versatile tool to visualize PIEZO2 ion channel activity in mechanosensory neurons. The study, published in Neuron, was led by Dr. Kara Marshall, assistant professor at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, with Dr. Ardem Patapoutian, Nobel Laureate and professor at Scripps Research Institute. Mechanosensation is the ability ...

BOSTON – Heavy drinking commonly begins in adolescence and is a known risk factor for the development of alcohol use disorder (AUD). Data from adult clinical trials suggest offering evidence-based medications for AUD to younger adults could promote their engagement in treatment and improve clinical outcomes. But are those medications being used when and where they are needed? In a review of claims data for youths insured by Medicated in 15 U.S. states, a team of researchers found that most youths with a diagnosis of AUD do not receive medications as part of their therapy, despite ...

An international team including a University of Washington scientist has found that the water on one of Saturn’s moons harbors phosphates, a key building block of life. The team led by the Freie Universität Berlin used data from NASA’s Cassini space mission to detect phosphates in particles ejected from the ice-covered global ocean of Saturn’s moon Enceladus. Phosphorus, in the form of phosphates, is vital for all life on Earth. It forms the backbone of DNA and is part of cell membranes and bones. The new study, published June 14 in ...

URBANA, Ill. — Conflict is unavoidable in all marriages. When it erupts in families with children, stressed or angry parents may take their pain out on the kids, projecting their anger or withdrawing emotionally or physically. In the worst cases, children’s socioemotional development can suffer. But the way parents, especially fathers, deal with marital conflict can make a difference to kids, according to a new study from researchers at the University of Illinois Urbana-Champaign. “In the past, marital conflict ...

CHICAGO, June 14, 2023 -- Leaders in health equity have issued an urgent call to address the underrepresentation of U.S. Latinos in Alzheimer's and dementia clinical trials. Their recommendations are outlined in an article published online today by Alzheimer's & Dementia: Translational Research & Clinical Interventions.   “A call to address structural barriers to the representation of Hispanics/Latinos in clinical trials on Alzheimer's disease and related dementias: A micro-meso-macro perspective,” was led by first author María P. Aranda, ...

National economies recover significantly faster from shocks when countries are powered by renewable energy sources, according to new research that has profound implications for global energy policy. Researchers from Trinity College Dublin looked for patterns in data from 133 systemic economic crises that affected 98 countries over a 40-year span. And while their analyses show that countries relying on a broader range of energy sources experience longer recovery times, the best predictor of economic recovery was the extent to which a country relied on renewable energy. Underlining the significance of the finding is the fact that while data ...

From protecting biodiversity to ensuring the safety of drinking water, the biochemical makeup of rivers and streams around the United States is critical for human and environmental welfare. Studies have found that human activity and urbanization are driving salinization (increased salt content) of freshwater sources across the country. In excess, salinity can make water undrinkable, increase the cost of treating water, and harm freshwater fish and wildlife. Along with the rise in salinity has also been an increase in alkalinity over time, and past research suggests that salinization may enhance alkalinization. But unlike excess salinity, ...

MINNEAPOLIS – People with inflammatory bowel disease (IBD) are more likely to have a stroke than people without the disease, according to a study published in the June 14, 2023, online issue of Neurology®, the medical journal of the American Academy of Neurology. The study does not prove that IBD causes stroke; it only shows an association. Inflammatory bowel disease causes chronic inflammation of the intestines. It includes Crohn’s disease, ulcerative colitis and unclassified inflammatory bowel disease. The study found that people with IBD were 13% more likely to have a stroke up to ...

For years, research and therapies for allergic asthma have been focused largely on targeting the inflammatory cytokines in the body that react to allergens and cause overproduction of mucus, wheezing and difficulty breathing. Commonly prescribed drugs like Omalizumab, Dupilumab, Mepolizumab and Reslizumab lower or block the various cytokines and antibodies responsible for the asthmatic response, but they work after a patient’s airway inflammation is well underway. Dr. Tigno-Aranjuez wanted to ...

“ACSL4 has been demonstrated to play a pivotal role in both normal physiology as well as in a variety of disease states, including breast and other cancers.” BUFFALO, NY- June 14, 2023 – A new review paper was published in Oncotarget's Volume 14 on June 12, 2023, entitled, “ACSL4: biomarker, mediator and target in quadruple negative breast cancer.” Breast cancer is a heterogeneous disease for which effective treatment depends on correct categorization of its molecular subtype. ...

New research indicates the fungal pathogen Batrachochytrium salamandrivorans (Bsal) could be devastating to amphibian biodiversity if introduced to North America. Nature Communications published the findings June 5 from a group of researchers at the University of Tennessee Institute of Agriculture, the University of Massachusetts-Boston and Washington State University. “We could see over 80 species of salamanders in the United States and 140 species in North America experience population declines if Bsal is introduced,” said Matt Gray, the lead author and professor of ...

Scientists have created one of the most detailed 3D images of the synapse, the important juncture where neurons communicate with each other through an exchange of chemical signals.  These nanometer scale models will help scientists better understand and study neurodegenerative diseases such as Huntington’s disease and schizophrenia.  The new study appears in the journal PNAS and was authored by a team led by Steve Goldman, MD, PhD, co-director of the Center for Translational Neuromedicine at the University of Rochester and the University of Copenhagen. The findings represent a significant technical achievement ...

ORLANDO, June 14, 2023 — The number of older adults in the U.S. population is growing, expecting to nearly double by 2060, and becoming more diverse with racial and ethnic minority populations projected to increase by 105% by 2040. “As a society, we’re not ready for that,” says Norma Conner, a professor in the University of Central Florida’s College of Nursing. “We need to be cognizant of the large population of older adults that is going to be ours to care for, and we need to have a better understanding that reflects them.” To ...

Responding to rapid advances in artificial intelligence and the urgent need to define its responsible use in health and medicine, Stanford Medicine and the Stanford Institute for Human-Centered Artificial Intelligence (HAI) today announced the launch of RAISE-Health (Responsible AI for Safe and Equitable Health). This pioneering initiative seeks to address critical ethical and safety issues surrounding AI innovation and help others navigate this complex and evolving field. Co-led by Stanford School ...

People with weakened immune systems are at constant risk of infection. Pseudomonas aeruginosa, a common environmental bacterium, can colonize different body parts, such as the lungs, leading to persistent, chronic infections that can last a lifetime – a common occurrence in people with cystic fibrosis. But the bacteria can sometimes change their behavior and enter the bloodstream, causing chronic localized infections to become acute and potentially fatal. Despite decades of studying the transition in lab environments, how and why the switch happens in humans has remained unknown. However, researchers ...

Researchers at the University of Houston are working to make T-cell immunotherapy safer, developing a tool called CrossDome, which uses a combination of genetic and biochemical information to predict if T-cell immunotherapies might mistakenly attack healthy cells.   T-cell based immunotherapies hold tremendous potential in the fight against cancer and infectious diseases, thanks to their capacity to specifically target diseased cells, including cancer metastasis. Nevertheless, this potential has been tempered with safety concerns regarding ...

The brain is one of the most metabolically active organs in the human body. Although it represents only about 2 percent of the human body’s weight, it receives 15 to 20 percent of the body’s total blood supply. Disrupted blood flow to the brain over a long period of time, a condition known as “chronic cerebral hypoperfusion” (CCH), can lead to serious cerebrovascular diseases such as white matter disease. CCH manifests as lesions in the white matter, a brain region vulnerable to problems with blood supply. Unfortunately, CCH has no available cure. An early diagnosis by visualizing the microvascular changes in the brain that occur prior to lesion ...

A new study by investigators from Mass General Brigham has found that a brief, simulated task of navigating a phone menu can detect the earliest changes in daily functioning in people at risk of developing Alzheimer’s disease. Investigators found that an older adult’s performance on the test, which can be completed in a matter of minutes, was associated with the hallmarks of Alzheimer’s disease pathology, including amyloid and tau depositions in the brain. The findings, which were published in the Journal of Alzheimer’s Disease, could help inform prevention trials testing treatments for Alzheimer’s disease before ...

Rich individuals living in communities with greater levels of economic inequality tend to be more generous with charitable giving and prosocial behaviors, according to a study published June 14, 2023 in the open-access journal PLOS ONE by Joel H. Suss from the London School of Economics & Political Science and Bank of England, UK. Many studies have attempted to assess whether the rich are more or less generous than the poor, and whether this shifts depending on the starkness of economic inequality. Thus far, the results have been inconclusive. Previous work in this vein has been conducted at a macro level, using state, region, and country-level aggregated data. In this study, Suss ...

Marine heatwaves are emerging as a key impact of climate change and pose a particularly significant threat to corals that form the backbone of coral reefs. Researchers have now identified a phenomenon that could help coral reef managers better plan and act for the future.[1] Every few years, the cyclic climate pattern called El Niño arises in the tropical Pacific, causing significant changes in winds, weather and ocean temperatures. From April 2015 to May 2016, the Central Pacific witnessed one of the strongest El Niño events ever recorded. Coral reefs were so stressed by the warmer ocean temperatures that they experienced mass bleaching, whereby the ...

New research from the University of Cambridge and the University of Melbourne, published in Science Advances, shows neurotypical workers and students taking cognitive enhancers, or ‘smart’ drugs, may actually be inhibiting their performance and productivity. Drugs such as methylphenidate, sold under the brand name Ritalin among others, are commonly prescribed for attention deficit hyperactivity disorder (ADHD), but are also taken by those without a diagnosis, in the belief that the drugs will enhance focus and cognitive performance. In four double-blinded, ...

Researchers at the RIKEN Center for Brain Science (CBS) in Japan have discovered a set of related mutations that lead to intracranial aneurysms—weakened blood vessels in the brain that can burst at any time. The mutations all appear to act on the same biological signaling pathway, and the researchers report the first ever pharmaceutical treatment in a mouse model, which works by blocking this signal. The study was published in Science Translational Medicine on June 14. About 5% of the population have unruptured intracranial aneurysms in blood vessels on the surface of the brain. Despite being ballooned arteries with ...

The chances of surviving massive blood loss from a traumatic injury such as a gunshot wound are around 50 percent. To survive, a patient needs two things to happen quickly: a large infusion of blood and coagulation at the wound to stop the bleeding. The problem is one of these solutions prevents the other. Introducing a large amount of blood to those suffering a massive hemorrhage impairs the blood’s ability to clot, a condition known as coagulopathy.   Now, Tulane University researchers have uncovered the cause of coagulopathy in trauma victims receiving a blood infusion. They also found that a synthetic compound ...