SCN2A related-disorders, although rare in the general population, are one of the more common single-gene neurodevelopmental conditions characterized by infantile seizures, autism spectrum disorder and intellectual disabilities Severity of these disorders varies widely from person to person Findings should help better identify patients who are most appropriate for clinical trials of new precision medicines and gene therapies CHICAGO --- A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, ...

The number of health care professionals able to write a prescription for a key medication to treat addiction quadrupled at community health clinics from 2016 to 2021, according to a new study by researchers at Oregon Health & Science University. The findings, published online today in the journal JAMA Health Forum, provides a glimmer of hope amid a national overdose epidemic that has claimed more than 100,000 lives in the United States in each of the past few years. The study examined community health centers serving low-income people primarily in West Coast states. Researchers ...

Riverside, Calif. -- In unincorporated communities in the United States-Mexico borderlands, historically and socially marginalized populations become invisible to the healthcare system, showing that geography acts as a structural determinant of health for low-income populations. So concludes a study by a University of California, Riverside, team that focused its attention on the borderland in Southern California, specifically, eastern Coachella Valley. From September to December 2020, the team, led by Ann Cheney, an associate professor of social medicine, population, and public health in the School of Medicine, conducted interviews in collaboration with ...

Imagine predicting the exact finishing order of the Kentucky Derby from a still photograph taken 10 seconds into the race. That challenge pales in comparison to what researchers face when using single-cell RNA-sequencing (scRNA-seq) to study how embryos develop, cells differentiate, cancers form, and the immune system reacts. In a paper published today in Proceedings of the National Academy of Sciences, researchers from the UChicago Pritzker School of Molecular Engineering and the Chemistry ...

The social and environmental impact of the Belo Monte dam and hydroelectric power plant in Pará state, Brazil, has been called a “disaster” by researchers, environmentalists and several media outlets. The damage has again been highlighted recently in an inspection report issued by the Brazilian Institute for the Environment and Renewable Natural Resources (IBAMA), an agency of the Ministry for the Environment and Climate Change. The inspectors detected silting and erosion of the Xingu River, obstacles to river navigation, a significant ...

CHICAGO (April 26, 2024) ─ The expanding use of transcatheter technologies has changed the landscape in the treatment of valvular disease in adult cardiac patients, with valve surgery rapidly shifting to more complex interventions frequently involving other concomitant procedures. To inform heart team and patient decision-making on valve surgery, The Society of Thoracic Surgeons (STS) has launched new risk calculators for isolated tricuspid valve repair and replacement; surgical aortic valve replacement (SAVR) after ...

Adding a pre-ketone supplement — a component of a high-fat, low-carb ketogenic diet — to a type of cancer therapy in a laboratory setting was highly effective for treating prostate cancer, researchers from the University of Notre Dame found. Recently published online in the journal Cancer Research, the study from Xin Lu, the John M. and Mary Jo Boler Collegiate Associate Professor in the Department of Biological Sciences, and collaborators tackled a problem oncologists have battled: Prostate cancer is resistant to a type of immunotherapy called immune checkpoint blockade (ICB) ...

A recent United Nations report found that the world generated 137 billion pounds of electronic waste in 2022, an 82% increase from 2010. Yet less than a quarter of 2022’s e-waste was recycled. While many things impede a sustainable afterlife for electronics, one is that we don’t have systems at scale to recycle the printed circuit boards (PCBs) found in nearly all electronic devices. PCBs — which house and interconnect chips, transistors and other components — typically consist of layers of thin glass fiber sheets coated ...

DURHAM, N.C. – A blood test successfully predicted knee osteoarthritis at least eight years before tell-tale signs of the disease appeared on x-rays, Duke Health researchers report.   In a study appearing April 26 in the journal Science Advances, the researchers validated the accuracy of the blood test that identifies key biomarkers of osteoarthritis. They showed that it predicted development of the disease, as well as its progression, which was demonstrated in their earlier work.   The research advances the utility of a blood test that would be superior to current ...

The Ecological Society of America (ESA) presents a roundup of four research articles recently published across its six esteemed journals. Widely recognized for fostering innovation and advancing ecological knowledge, ESA’s journals consistently feature illuminating and impactful studies. This compilation of papers explores fire hazards in Mediterranean cork oak woodlands, putting theory to work predicting where cold-blooded organisms will occur under climate change, barriers to going high-tech in rangeland management and more, showcasing the Society’s commitment to promoting cutting-edge research that furthers our understanding of the natural world.   From Ecological ...

Dr James Gill, a Clinical Lecturer at the University of Warwick and a practising GP, will attend a pivotal event hosted at the House of Lords on Monday (April 29) focused on combating the global crisis of antimicrobial resistance (AMR). Antimicrobial resistance poses a formidable threat to communities worldwide, with projections indicating that by 2050, over 10 million deaths annually could be attributed to AMR, surpassing even the toll of cancer. In the face of this escalating emergency, effective communication is paramount. Health professionals and organisations play a crucial role in disseminating accurate, accessible information to raise awareness about critical ...

The case of a Florida bottlenose dolphin found with highly pathogenic avian influenza virus, or HPAIV — a discovery made by University of Florida researchers in collaboration with multiple other agencies and one of the first reports of a constantly growing list of mammals affected by this virus — has been published in Communications Biology. The report documents the discovery, the first finding of HPAIV in a cetacean in North America, from the initial response by UF’s Marine Animal Rescue team to a report of a distressed dolphin in Dixie County, Florida, to the subsequent identification of the virus from brain and tissue samples obtained in a postmortem ...

The same geometric quirk that lets visitors murmur messages around the circular dome of the whispering gallery at St. Paul’s Cathedral in London or across St. Louis Union Station’s whispering arch also enables the construction of high-resolution optical sensors. Whispering-gallery-mode (WGM) resonators have been used for decades to detect chemical signatures, DNA strands and even single molecules. In the same way that the architecture of a whispering gallery bends and focuses sound waves, WGM microresonators confine and concentrate light in a tiny circular path. This enables WGM resonators ...

NEWPORT NEWS, VA – On April 18, the U.S. Department of Energy’s Thomas Jefferson National Accelerator Facility welcomed Under Secretary for Science and Innovation Geraldine (Geri) Richmond for a tour of the lab and briefing on its research mission, innovation and STEM programs. Throughout the day, much of the conversation centered on a common theme of how the lab is working to ensure it is a hub of engagement, partnership, and access for researchers, students, community leaders and others. Ensuring diverse communities have access to the programs, ...

Hundreds of faculty, students and business leaders flocked to The University of Texas at Arlington for its second annual Research and Innovation Expo, an event designed to showcase the University’s research efforts. “This is an event where we can showcase our research achievements and encourage everyone to learn about and engage with other investigators outside their own fields,” said Eileen Clements, interim executive director of the UT Arlington Research Institute and an organizer of the event. Researchers learned how ...

By Leah Shaffer A new imaging technique developed by engineers at Washington University in St. Louis can give scientists a much closer look at fibril assemblies, stacks of peptides like amyloid beta, most notably associated with Alzheimer’s disease. These cross-β fibril assemblies are also useful building blocks within designer biomaterials for medical applications, but their resemblance to their amyloid beta cousins, whose tangles are a symptom of neurodegenerative disease, is concerning. Researchers want ...

The University of Texas MD Anderson Cancer Center and RUSH University System for Health today announced a partnership to create RUSH MD Anderson Cancer Center. The partnership represents advanced clinical and operational integration in the delivery of cancer care, providing RUSH patients greater access to cancer treatments and research considered among the best in the world.  MD Anderson is one of the nation’s leading cancer centers and its team of experts is devoted exclusively to cancer patient care, research, education ...

1. NIMS has succeeded in simulating the magnetization reversal of Nd-Fe-B magnets using large-scale finite element models constructed based on tomographic data obtained by electron microscopy. Such simulations have shed light on microstructural features that hinder the coercivity, which quantifies a magnet’s resistance to demagnetization in opposing magnetic fields. New tomography-based models are expected to guide toward the development of sustainable permanent magnets with ultimate performance. 2. Green power generation, electric transportation, and other high-tech industries rely heavily on ...

A new study highlights possible cardiovascular health advantages in individuals with a rare condition known as growth hormone receptor deficiency (GHRD), also called Laron syndrome. GHRD, which is characterized by the body’s impaired ability to use its own growth hormone and results in stunted growth, has been linked in mice to a record 40% longevity extension and lower risks for various age-related diseases. However, the risk of cardiovascular disease in individuals with GHRD has remained ...

When did you last go anywhere without your cell phone? From maps and weather apps to social media platforms, we give consent for our phones to trace our footsteps and behavior. These curated mobility data are often used for personalized advertisements. In a commentary, published April 26 in the journal Cell Reports Sustainability, scientists argue mobility data can offer so much more—it is key to understanding human-wildlife interactions for guiding policy decisions on sustainability-related issues and should be free and accessible for research.  As ...

Are mice clever enough to be strategic? Kishore Kuchibhotla, a Johns Hopkins University neuroscientist who studies learning in humans and animals, and who has long worked with mice, wondered why rodents often performed poorly in tests when they knew how to perform well. With a simple experiment, and by acting as “a little bit of a mouse psychologist,” he and his team figured it out. “It appears that a big part of this gap between knowledge and performance is that the animal is engaging in a form of ...

Researchers Kazuaki Takasan and Kyogo Kawaguchi of the University of Tokyo with Kyosuke Adachi of RIKEN, Japan's largest comprehensive research institution, have demonstrated that ferromagnetism, an ordered state of atoms, can be induced by increasing particle motility and that repulsive forces between atoms are sufficient to maintain it. The discovery not only extends the concept of active matter to quantum systems but also contributes to the development of novel technologies that rely on the magnetic ...

About The Study: The findings of this study of 26,000 participants from four large U.S. studies suggest that both individual- and area-level social determinants of health may be considered in future development of atherosclerotic cardiovascular disease risk assessment tools, particularly among Black individuals.  Authors: Yiyi Zhang, Ph.D., of Columbia University Medical Center in New York, is the corresponding author.  To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/  (doi:10.1001/jamanetworkopen.2024.8584) Editor’s ...

One injected dose of an experimental malaria monoclonal antibody was 77% effective against malaria disease in children in Mali during the country’s six-month malaria season, according to the results of a mid-stage clinical trial. The trial assessed an investigational monoclonal antibody developed by scientists at the National Institutes of Health (NIH), and results appear in The New England Journal of Medicine. “A long-acting monoclonal antibody delivered at a single health care visit that rapidly provides high-level protection against malaria in these vulnerable populations would fulfill an unmet public health need,” said Dr. Jeanne ...

Scientists have shed light on a new, transformative approach that could help resolve a dispute over the Nile river’s water resources. The Nile is one of the longest rivers globally and spreads over 11 countries in East Africa, supplying water, energy production, environmental quality and cultural wealth. However, the use of Nile resources has been a long-standing source of tension, often overshadowing opportunities for cooperation and mutual benefit. But as the demand for energy, water, and food in Africa is steadily increasing, the study, led by The University of Manchester in collaboration with regional organisations, offers a glimmer of hope at a resolution. The research, ...