Roughly 50 families scattered across the world share ultra-rare variants in a particular gene. Silent for years, the inherited mutations make themselves known when patients reach the fourth decade of life. Changes in vision start a cascade of symptoms. Five to 20 years later, the illness is fatal. Researchers at Washington University School of Medicine in St. Louis have dedicated many years to understanding the rare condition known as retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, or RVCL-S, with the aim of developing a treatment ...

A new smartphone face-screening tool could help paramedics to identify stroke in seconds – much sooner and more accurately than is possible with current technologies. Strokes, which affect millions of people globally, occur when the blood supply to part of the brain is interrupted or reduced, which prevent brain tissue from getting oxygen and nutrients. A few minutes of delay can result in permanent damage to the brain cells. A team of biomedical engineers at RMIT University developed the AI capabilities behind the software technology and has published their results ...

WASHINGTON, June 17, 2024 — L-DOPA is the best drug we have for Parkinson’s disease, but its molecular mirror image, D-DOPA, causes dangerous side effects. Making L-DOPA without also making D-DOPA is surprisingly hard and requires a specific kind of molecule to pull off. But that specific molecule must be made from a different and equally specific molecule. In this video, our host, George Zaidan, explains how one of the winners of the 2001 Nobel Prize in Chemistry pulled it off, and why "chiral synthesis," as it's called, is really just turtles all the way down. https://youtu.be/_cb09XB07LQ?si=BuMEI5fOuHmuQlkZ Reactions is a video series ...

Recent advancements show nanobodies from camelid antibodies excel in food allergen detection with superior stability, specificity, and cost-effectiveness. This innovative approach aims to improve accuracy and efficiency, crucial for preventing severe allergic reactions. The study highlights nanobodies' potential in reliable immunoassays, addressing rising food allergies and enhancing safety measures. Food allergies pose significant health risks, affecting millions worldwide, with the prevalence rising over the past decades. Traditional detection methods, such as monoclonal and polyclonal antibodies, are often costly, labor-intensive, and prone to cross-reactions. The need for ...

Researchers from the Substance Abuse and Mental Health Services Administration (SAMHSA), the National Institutes of Health’s (NIH) National Institute on Drug Abuse (NIDA), Centers for Medicare & Medicaid Services (CMS), and the Centers for Disease Control and Prevention (CDC) found that among a cohort of 137,000 Medicare beneficiaries who experienced a nonfatal overdose in 2020, almost 24,000 (17.4%) experienced a subsequent nonfatal overdose, and about 1,300 (1%) died from overdose in the following year. Results were published today in JAMA Internal Medicine, identifying both effective interventions and significant gaps in care. “People who have experienced ...

KEY TAKEAWAYS Mass General Brigham researchers analyzed 4,400 cognitively unimpaired adults with amyloid imaging, finding increased amyloid in those who reported that their mothers had symptoms of Alzheimer’s disease (AD). Increased amyloid, a biomarker of AD, was also found in those with a history of the disease on both sides of their family and in those whose fathers had an early onset of symptoms. The study suggests that a person’s maternal versus paternal family history could ...

About The Study: More than 1 in 5 adults did not recover within 3 months of SARS-CoV-2 infection in this cohort study. Recovery within 3 months was less likely in women and those with preexisting cardiovascular disease and more likely in those with COVID-19 vaccination or infection during the Omicron variant wave.  Corresponding Author: To contact the corresponding author, Elizabeth C. Oelsner, M.D., M.P.H., email eco7@cumc.columbia.edu. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamanetworkopen.2024.17440) Editor’s Note: Please see the article for additional information, ...

About The Study: This randomized clinical trial found that varenicline and nicotine-containing electronic cigarettes were both effective in helping individuals in quitting smoking conventional cigarettes for up to 6 months.  Corresponding Author: To contact the corresponding author, Anna Tuisku, Ph.D., email anna.tuisku@lapha.fi. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamainternmed.2024.1822) Editor’s Note: Please see the article ...

NEW YORK, NY (June 14, 2024)--Early in the pandemic, many people who had SARS-Cov-2 infection or COVID-19 began to report that they couldn’t shake off their symptoms even after a month or more—unusually long for a viral infection of the upper respiratory tract—or developed new, persistent symptoms soon after the infection cleared.  Although it’s still not clear what causes post-COVID-19 conditions or “long COVID” (symptoms and conditions that develop, linger, or reoccur weeks or months after SARS-CoV-2 infection), a new study by researchers at Columbia University Vagelos College ...

An international team of scientists has identified the oldest fossil of a sea-going reptile from the Southern Hemisphere – a nothosaur vertebra found on New Zealand’s South Island. 246 million years ago, at the beginning of the Age of Dinosaurs, New Zealand was located on the southern polar coast of a vast super-ocean called Panthalassa. Reptiles first invaded the seas after a catastrophic mass extinction that devastated marine ecosystems and paved the way for the dawn of the Age of Dinosaurs almost 252 million years ago. Evidence for this evolutionary milestone has only been discovered in a few places around the world: on the Arctic island of Spitsbergen, northwestern North ...

A decade-long collaborative study has discovered huge genetic potential that is untapped in modern wheat varieties. The international study which appears in Nature reveals that at least 60% of the genetic diversity found in a historic collection of wheat is unused providing an unprecedented opportunity to improve modern wheat and sustainably feed a growing global population. To make this discovery, a cross-institutional collaboration led by Dr Simon Griffiths, at the John Innes Centre and Professor Shifeng Cheng at the Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences (CAAS), studied the A.E. Watkins Landrace Collection, a ...

A collaborative research team led by QIAN Wenfeng from the Institute of Genetics and Developmental Biology (IGDB) of the Chinese Academy of Sciences and Peking University has developed a plant gene drive system called CRISPR-Assisted Inheritance utilizing NPG1 (CAIN), which, according to the researchers, uses a toxin-antidote mechanism in the male germline to override Mendelian inheritance in plants. Their findings were published in Nature Plants. In nature, gene inheritance typically follows Mendel's laws, which provide an equal chance for alleles to pass on to ...

(NEW YORK, NY and BRUSSELS, BELGIUM) - June 17, 2024 - The 2024 Global NF Conference, organized by the Children’s Tumor Foundation (CTF) and the European NF Group, and hosted by Children's Tumor Foundation Europe, is the foremost assembly defining the scientific and medical future of the genetic conditions neurofibromatosis and schwannomatosis (known collectively as NF). This global gathering, taking place from June 20-25 at THE EGG in Brussels, Belgium, will connect over 1,000 attendees for up-to-date knowledge and insights in the growing fields of NF research ...

Francis Crick Institute press  Peer reviewed Experimental study Cells, people and animals *Case studies available for interview* Researchers discover potential mole reversal therapy in rare condition “Knowing there has been a huge step forward in the CMN research and there could be a chance of Ada’s CMN being reversed and possibly reducing Ada’s risk of developing melanoma, has blown our expectations out the water.” Ada’s Mum and Dad, Rachelle and Greg Researchers at the Francis Crick Institute, UCL Great Ormond Street Institute for Child Health and Great Ormond Street ...

Dr. Yoonseok Choi from the Hydrogen Convergence Materials Laboratory at the Korea Institute of Energy Research (KIER), in collaboration with Professor WooChul Jung from the Department of Materials Science and Engineering at KAIST and Professor Beom-Kyung Park from the Department of Materials Science and Engineering at Pusan National University, has successfully developed a catalyst coating technology that significantly improves the performance of solid oxide fuel cells (SOFCs) in just 4 minutes. Fuel cells are gaining attention as highly efficient and clean energy devices driving the hydrogen economy. Among them, solid ...

DALLAS, June 17, 2024 — About 40,000 people in the United States experience recurrent pericarditis, or inflammation of the sac-like structure that protects the heart, which can cause chest pain and may lead to fluid buildup around the heart muscle. The American Heart Association, celebrating 100 years of lifesaving service in 2024, is launching a three-year initiative to empower patients and equip health care providers with up-to-date science to inform recurrent pericarditis care decisions. The Addressing Recurrent Pericarditis initiative, supported by Kiniksa Pharmaceuticals, aims to improve diagnosis, treatment and quality of life for those with ...

PLYMOUTH MEETING, PA [June 17, 2024] — The National Comprehensive Cancer Network® (NCCN®) today announced new recognitions for the award-winning library of NCCN Guidelines for Patients® and NCCN Patient Webinars. The NCCN Guidelines for Patients: Colon Cancer earned a Gold Award from Hemes Creative Awards for Electronic Media/Social Media/Interactive Media/Digital Publications/Messaging. The NCCN Guidelines for Patients: Kidney Cancer earned an Award of Distinction from The Communicator Awards for Print Content—Medical. Additionally, the NCCN Patient Webinar for Uterine Cancer has been named a Gold Winner from the Viddy Awards while the NCCN Patient Webinar ...

When stressed out, many of us turn to junk food for solace. But new University of Colorado Boulder research suggests this strategy may backfire.  The study found that in animals, a high-fat diet disrupts resident gut bacteria, alters behavior and, through a complex pathway connecting the gut to the brain, influences brain chemicals in ways that fuel anxiety. “Everyone knows that these are not healthy foods, but we tend to think about them strictly in terms of a little weight gain,” said lead author Christopher Lowry, a professor of integrative physiology at CU Boulder. “If you understand that they also impact your brain in a way that ...

Nano and microplastics are a well-known menace, found practically everywhere in nature, including soil, oceans, drinking water, air, and even the human body. Studies show that soils in particular hold a significant portion of N/MPs. The problem with these N/MPs is their microscopic size, which allows them to easily migrate through soil into the ground or freshwater bodies due to rainwater leaching. From there, they enter the human body. Hence, it is imperative to understand the distribution and movement of the soil’s N/MPs to gauge their threat and mitigate it. Current ...

Embargoed for release: Monday, June 17, 6:00 AM ET Boston, MA—A majority of Americans say that several key policies to stop the spread of COVID-19 were generally a good idea in hindsight, according to a new national poll by Harvard T.H. Chan School of Public Health and the de Beaumont Foundation. The poll also found, however, that views varied across policies, and many say the policies had negative impacts.  The poll, U.S. Views on Pandemic Policies: Lessons for Emerging Outbreaks, was conducted March 21 to April 2, 2024, among a nationally representative, probability-based sample of 1,017 adults ages 18 or older.  A majority of Americans say four key pandemic policies ...

In the not-too-distant future, a screening assessment for depression could include a quick brain scan to identify the best treatment. Brain imaging combined with machine learning can reveal subtypes of depression and anxiety, according to a new study led by researchers at Stanford Medicine. The study, to be published June 17 in the journal Nature Medicine, sorts depression into six biological subtypes, or “biotypes,” and identifies treatments that are more likely or less likely to work ...

Research Highlights: The number of individuals in the United States who had chronic hypertension or chronic high blood pressure during pregnancy doubled between 2008 and 2021, according to a nationwide review of private health insurance claims. Treatment rates for chronic hypertension during pregnancy remained relatively low but stable during the same time, with only about 60% of the individuals receiving (filling prescriptions for) antihypertensive medications. The researchers say these findings underscore the need to adhere to clinical guidelines for accurate diagnosis and treatment of high blood pressure before and during pregnancy. Embargoed until 4 ...

Things aren’t always as they seem. Take pancreatic cancer, for example. In up to one in 10 cases, researchers have documented a peculiar characteristic. Some of the pancreatic cells appear to have lost their identity. It’s as if they forget what they are.  “This is very bizarre. You see pancreatic cancer, which usually somewhat resembles the original organ, losing those features and basically becoming akin to skin or esophagus—these other very unrelated tissues, " explains ...

A major earthquake 2,500 years ago caused one of the largest rivers on Earth to abruptly change course, according to a new study. The previously undocumented quake rerouted the main channel of the Ganges River in what is now densely populated Bangladesh, which remains vulnerable to big quakes. The study was just published in the journal Nature Communications. Scientists have documented many river-course changes, called avulsions, including some in response to earthquakes. However, “I don’t think we have ever seen such a big ...

A pioneering study published today in the journal Nature Aging has unveiled significant heterogeneity in the risk factors affecting healthy aging in Latin America and emphasised the limitations of current models of brain health, which are primarily based on data from high-income countries. The research was conducted by researchers from Trinity College Dublin (Ireland), and by colleagues in Universidad Adolfo Ibanez (Chile) and Pontificia Universidad Javeriana (Colombia) among others. The study developed a metanalytical approach with 146,000 participants and findings emphasise how current models of brain health may not apply ...