Despite rapid advances in genetic testing in recent decades, more than half of people worldwide with suspected Mendelian genetic disorders do not have an accurate molecular diagnosis. Others endure more than six years of tests before a diagnosis is given. Now, KAUST researchers and scientists across Saudi Arabia have developed NanoRanger, an accurate and rapid method for genetically diagnosing such diseases in a few hours[1]. “Precise, efficient genomic diagnosis is urgently needed to improve patient outcomes and facilitate carrier ...

Electric Scooter and Bike Accidents Are Soaring Across the U.S.  National UCSF study finds some injuries and hospitalizations from popular micromobility vehicles have doubled. In the crowded urban landscape, where small electric vehicles – primarily scooters and bicycles – have transformed short distance travel, UC San Francisco researchers are reporting a major national surge in accidents tied to “micromobility.”  E-bicycle injuries doubled every year from 2017 to 2022, while e-scooter injuries rose by 45 percent. Injured e-riders tended to be slightly older and wore helmets less often than conventional ...

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive form of leukemia that arises from the malignant transformation of T-cell progenitors. This disease is most commonly diagnosed in children, where it accounts for a significant portion of pediatric leukemia cases, but it also affects adults. The clinical presentation of T-ALL includes symptoms resulting from bone marrow failure, such as anemia, thrombocytopenia, and neutropenia, as well as symptoms due to extramedullary disease, including lymphadenopathy, splenomegaly, ...

(Toronto, July 23, 2024) JMIR Publications invites submissions to a new theme issue titled “First Look: Early Research, Viewpoints, and Experiences with Apple Vision Pro in Health Care Settings” in its new open access journal JMIR XR and Spatial Computing.   This theme issue aims to gather early research findings, diverse and critical viewpoints, and real-world experiences concerning the utilization of Apple Vision Pro in health care contexts. We invite contributions that explore the following topics:   Medical education ...

Every year in the United States, an estimated 476,000 people are diagnosed and treated for Lyme disease. The estimate comes from the U.S. Centers for Disease Control and Prevention (CDC).   Lyme disease can be treated with antibiotics. The best health outcomes are most likely when diagnosis is made within the first weeks of infection. If left untreated, the effects of Lyme disease can linger for years and cause neurological problems, arthritis, and a host of other ailments. But because diagnosing ...

Breast cancer (BC) remains one of the most challenging cancers to treat, primarily due to its heterogeneity and propensity for metastasis. The Notch signaling pathway is integral to various cellular processes and has been implicated in the development and progression of BC. NcRNAs, including microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs), have emerged as pivotal regulators of gene expression, affecting cancer biology through their interactions with the Notch pathway. Non-coding ...

Since the laser was invented in the 1960s, scientists have been working to increase lasers’ peak power and to design machines producing coherent light at progressively shorter wavelengths that can improve image resolution and enable probing of quantum nuclear states. Progress has been made with regard to peak power, most notably with the invention of chirped pulse amplification by University of Rochester researchers in the 1980s, a breakthrough that garnered the Nobel Prize in Physics in 2018. However, developing ...

A new antibiotic that works by disrupting two different cellular targets would make it 100 million times more difficult for bacteria to evolve resistance, according to new research from the University of Illinois Chicago. For a new paper in Nature Chemical Biology, researchers probed how a class of synthetic drugs called macrolones disrupt bacterial cell function to fight infectious diseases. Their experiments demonstrate that macrolones can work two different ways – either by interfering with protein production or corrupting DNA structure.  Because bacteria would need to implement ...

LA JOLLA (July 23, 2024)—Salk Professor Janelle Ayres has been selected as a 2024 Howard Hughes Medical Institute (HHMI) Investigator. The HHMI Investigators program awards established scientists with approximately $9 million in funding over seven years to pursue boundary-breaking research in their field. The honor recognizes her influential work in immunology and microbiology and its applications to the global crisis of antibiotic resistance. Ayres is among 26 other 2024 selectees, who will join more than 250 standing Investigators—including Salk Professors ...

INDIANAPOLIS -- The National Library of Medicine has awarded Regenstrief Institute a five-year, $5 million contract extension to ensure the continued maintenance, expansion and public distribution of LOINC®, a  global standard for health terminology. The NLM issued its initial contract to support the creation and development of LOINC in 1999. With this extension, NLM's commitment to LOINC will reach 30 years by the time the award expires in 2029. “The NLM’s continued support of LOINC demonstrates the value the standard delivers to patients, care providers, health ...

Dr. Jaeyeon Pyo’s team at the Korea Electrotechnology Research Institute (KERI) has become the first in the world to reveal light emission patterns from 3D-printed nanowires, which has been published as a cover article in the prestigious scientific journal ACS Nano. The higher resolution in display devices signifies the more of pixels in a given screen size. As pixel density increases, movies and images are displayed with greater precision and detail. In this regard, ongoing research aims to fabricate ...

The Howard Hughes Medical Institute announced on July 23, 2024 that 26 of the nation’s leading scientists have been named HHMI Investigators.  Paving the way for new scientific and biomedical discoveries in fields ranging from neuroscience to immunology to structural biology, these scientists come from 19 US institutions and join HHMI’s current Investigator community, comprising more than 250 scientists.  HHMI will invest more than $300 million in this newest cohort over the next seven years, enabling each Investigator to push the boundaries of science. “HHMI is committed to supporting visionary scientists who are pursuing discoveries that will change ...

High blood pressure is known to increase a person’s chances of having a stroke. But a study led by Michigan Medicine narrows in on the cumulative effects of years of high systolic blood pressure — the top number on the blood pressure reading and how hard the heart pumps blood to the arteries — finding that a higher average reading during adulthood is linked with a greater risk for the two most common types of stroke.    The study, published in JAMA Network Open, analyzed the average systolic blood pressure years ahead of the first stroke for more than 40,000 people ...

IMDEA Software researchers Facundo Molina, Juan Manuel Copia and Alessandra Gorla present FIXCHECK, a novel approach to improve patch fix analysis that combines static analysis, randomized testing and large language models. Their innovations, embodied in the paper: "Improving Patch Correctness Analysis via Random Testing and Large Language Models" were presented at the International Conference on Software Testing, Verification and Validation (ICST 2024). Context Generating patches that fix software defects is a crucial task in the maintenance of software systems. Typically, software ...

A study of volatile organic compounds (VOCs) emitted by new cars on hot summer days finds concerning levels of formaldehyde and other aldehydes. Consumers are familiar with—and even drawn to—the “new car smell” produced as VOCs from carpets, upholstery, and other interior materials in newly manufactured passenger vehicles. These VOCs can cause a range of health effects, including headaches, inflammation of the eyes, nose and throat, fatigue, irritability, dry cough, lung disease, and disorientation. Jianyin Xiong, Shaodan Huang, and colleagues sought to capture the levels of VOCs in the passenger cabins of new cars on ...

Perfluoroalkyl substances (PFASs), nicknamed ‘forever chemicals,’ pose a growing environmental and health threat. Since the invention of Teflon in 1938, PFASs and perfluorinated polymers or PFs have been widely used for their exceptional stability and resistance to water and heat. These properties made them ideal for countless applications, from cookware and clothing to firefighting foam. However, this very stability has become a major problem. PFASs do not easily break down in the environment, leading ...

Malaria remains a serious health issue globally, especially in Africa. The disease is caused by protozoan parasites in the Plasmodium genus. In 2021, there were 247 million cases of malaria and 619,000 deaths reported worldwide. At present, the first line of treatment against malaria is artemisinin combination therapy (ACT) and the administration of artemisinin derivatives in combination with other drugs. After the introduction of ACTs in Africa, which accounts for more than 90% of the world’s malaria cases, the number of deaths due to malaria greatly declined in the mid-2000s. However, Plasmodium falciparum, the most virulent malaria parasite, is resistant to ACT and has been spreading ...

Nearly four decades ago, Boston College quarterback Doug Flutie launched a game-winning, mid-field touchdown pass to upset the University of Miami on the game’s final play—prompting a subsequent surge in applications to the school in what has been dubbed the “Flutie Effect.”  A team of NYU researchers has now found evidence of this effect beyond the gridiron—and athletic competition. During and after Morocco’s surprising run to the World Cup semi-finals in the fall 2022, online searches on non-sports topics related to Morocco increased ...

Data from the Anti-Amyloid Treatment in Asymptomatic Alzheimer’s (A4) study, the first and largest clinical trial of pre-symptomatic Alzheimer’s disease, is now widely available to researchers studying the condition. The comprehensive dataset has already yielded key insights about Alzheimer’s disease, which affects nearly seven million people in the United States, and sharing the data opens avenues for further progress. A4 researchers screened more than 7,500 people and enrolled 1,169 people with pre-symptomatic Alzheimer’s disease. This stage ...

Scientists have succeeded in pinpointing the neurons within a female fruit fly’s brain that respond to signals from the male during mating. Male fruit flies transfer a substance called a sex-peptide during mating in the seminal fluid together with sperm. This sex pheromone influences the female fly’s behaviour so she will start to lay eggs and be less inclined to mate further. This is a common phenomenon in insects but until now, it was not known where in the nervous system the neurons are located that direct ...

Researchers at the National Institutes of Health (NIH) found that an artificial intelligence (AI) model solved medical quiz questions—designed to test health professionals’ ability to diagnose patients based on clinical images and a brief text summary—with high accuracy. However, physician-graders found the AI model made mistakes when describing images and explaining how its decision-making led to the correct answer. The findings, which shed light on AI’s potential in the clinical setting, were published in npj ...

DURHAM, N.C. -- Medications used by astronauts on the International Space Station might not be good enough for a three-year journey to Mars.      A new study led by Duke Health shows that over half of the medicines stocked in space -- staples such as pain relievers, antibiotics, allergy medicines, and sleep aids -- would expire before astronauts could return to Earth.     Astronauts could end up relying on ineffective or even harmful drugs, according to the study appearing July 23 in npj Microgravity, a Nature journal.      “It doesn’t necessarily mean ...

CORVALLIS, Ore. – Lead levels in moss are as much as 600 times higher in older Portland, Oregon, neighborhoods where lead-sheathed telecommunications cables were once used compared to lead levels in nearby rural areas, a new study of urban moss has found. The findings raise concerns about lead exposure in pre-1960 neighborhoods where the cables were common and in some cases are still in place even though they are no longer in use, said Alyssa Shiel, an environmental geochemist at Oregon State University, and the study’s ...

A new preclinical model offers a unique platform for studying the Parkinson’s disease process and suggests a relatively easy method for detecting the disease in people, according to a new study led by Weill Cornell Medicine researchers. In the study, published July 23 in Nature Communications, the researchers showed that knocking out a key component involved in protein transportation in the light-sensing rod cells of mice leads to the retinal accumulation of the aggregates of a protein called alpha-synuclein found in patients with Parkinson’s disease. “This is a really unique model involving a pathology that seems more like human Parkinson’s than what we see in ...

A new method that can rapidly determine whether a virus is infectious or non-infectious could revolutionise the response to future pandemics.  Called FAIRY (Fluorescence Assay for vIRal IntegritY), the assay can screen viruses against virucidal antivirals in minutes, allowing for the effectiveness of antiviral measures, such as disinfectants that break the chain of infection, to be quickly determined.    Dr Samuel Jones from Birmingham’s School of Chemistry led the research team that developed the FAIRY assay.  ...