TREX1 is a gene that is supposed to direct the maintenance of the entire body’s DNA, but new research shows that when people are born with mutated TREX1, it causes catastrophic damage to the DNA over time, resulting in a deadly rare disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL). Published in Nature Communications, the research was led by teams at the Perelman School of Medicine at the University of Pennsylvania and the Brain Research Institute at Niigata University in Japan. While it was already known that a mutation in TREX1 was behind RVCL, the mechanism by which ...

A new study offers first-time insights into three emerging climate innovations to safeguard or increase the carbon naturally captured by ocean and coastal ecosystems: rapid interventions to save the Great Barrier Reef, satellite-tracked kelp beds in the deep ocean, and seagrass nurseries in the United Kingdom. The research, published in Environmental Science & Policy and co-authored by leading climate scholars at Boston University, Aarhus University, and the University of Sussex Business School, advances knowledge of understudied interventions in marine ...

The brain’s ability to learn comes from “plasticity,” in which neurons constantly edit and remodel the tiny connections called synapses that they make with other neurons to form circuits. To study plasticity, neuroscientists seek to track it at high resolution across whole cells, but plasticity doesn’t wait for slow microscopes to keep pace and brain tissue is notorious for scattering light and making images fuzzy. In a paper in Scientific Reports, a collaboration of MIT engineers and neuroscientists describes a new microscopy system designed for fast, clear, and frequent imaging of the living brain. The system, ...

  The liquid biopsy technique applied in this work is based on the sequencing of the entire tumor genome from 138 patients and the monitoring of mutations in the blood. This approach achieves high sensitivity in detecting the tumor signal in the blood (1/1,000,000 DNA molecules), and the patterns found reflect how patients respond to immunotherapy.   This study is part of the Comprehensive Program of Cancer Immunotherapy and Immunology (CAIMI) at VHIO, funded by the BBVA Foundation, and is co-led by Dr Rodrigo Toledo, head of the Biomarkers and Clonal Dynamics Group at the Vall d’Hebron Institute of Oncology (VHIO), ...

A recent study has found that the SMCHD1 protein plays a key role in controlling how genes are processed, which affects the progression of Facioscapulohumeral Muscular Dystrophy (FSHD). This discovery about SMCHD1's function in gene regulation is important because it opens new possibilities for developing targeted therapeutic strategies to combat the disease. By understanding more about how SMCHD1 works, scientists can explore new ways to fight the disease. A recent study by MD-PhD student Eden Engal under the guidance of Dr. Yotam Drier and ...

Researchers uncover how the halogen bond can be exploited to direct sequential dynamics in the multi-functional crystals, offering crucial insights for developing ultrafast-response times for multilevel optical storage. Halogen bonds are intermolecular interactions that arise from the attraction between a halogen atom (group 17 elements in the periodic table) and another atom with lone pairs, more generally a molecular entity with high electron density. Understanding the distinctive and highly directional nature of halogen bonds is crucial for crystal engineering and studying ...

Bottom Line: The U.S. Preventive Services Task Force (USPSTF) recommends exercise interventions to prevent falls in community-dwelling adults 65 years or older who are at increased risk for falls. The USPSTF recommends that clinicians individualize the decision to offer multifactorial interventions to prevent falls to community-dwelling adults 65 years or older who are at increased risk for falls. Existing evidence indicates that the overall net benefit of routinely offering multifactorial interventions to prevent falls is small. When determining ...

ABSTRACT 6006   CHICAGO ― According to preliminary data from a multi-institution Phase III trial led by researchers at The University of Texas MD Anderson Cancer Center, intensity modulated proton therapy (IMPT) achieved similar clinical outcomes and offered significant patient benefits when compared to traditional intensity modulated radiation therapy (IMRT) as part of chemoradiation treatment for patients with oropharyngeal (head and neck) cancer.   The results were presented today at the 2024 American Society of Clinical Oncology (ASCO) Annual Meeting by Steven Frank, M.D., professor of Radiation Oncology and executive director of the Particle ...

WASHINGTON, June 4, 2024 – Millions of people live near active volcanoes that are constantly monitored for signs of an impending eruption. When one occurs, scientists and governments rely on data to estimate the extent of the possible damage, informing evacuation plans and disaster response efforts. The nature of eruptions, unfortunately, means collecting data about them can sometimes be as challenging as organizing a response. In Review of Scientific Instruments, by AIP Publishing, researchers from the University at Buffalo developed a tool for measuring the viscosity of lava that could increase our understanding of molten rock as well as better improve ...

About The Study: This population-based cohort study of men with prostate cancer suggests that higher county-level prevalence of prostate-specific antigen (PSA) screening was associated with lower odds of advanced disease, all-cause mortality, and prostate cancer–specific mortality. Associations varied by age, race and ethnicity, and U.S. Census region.  Corresponding Author: To contact the corresponding author, Hari S. Iyer, Sc.D., M.P.H., email hari.iyer@rutgers.edu. To access the embargoed study: Visit ...

About The Study: This nonrandomized controlled trial found that compared with usual care alone, partnership with a trained psychiatric service dog was associated with lower posttraumatic stress disorder (PTSD) symptom severity and higher psychosocial functioning in veterans. Psychiatric service dogs may be an effective complementary intervention for military service–related PTSD.  Corresponding Author: To contact the corresponding author, Marguerite E. O’Haire, Ph.D., email maggieohaire@arizona.edu. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jamanetworkopen.2024.14686) Editor’s ...

In response to the escalating demand for sustainable transportation solutions, researchers from the National Institute of Technology Silchar have developed a groundbreaking scheduling system for electric vehicles (EVs) that enhances power grid efficiency and accommodates the growing influx of solar energy. This advanced system, outlined in a recent study by Pritam Das and Partha Kayal, focuses on optimizing the charging and discharging times of EVs to better integrate with photovoltaic (PV) energy ...

OAK BROOK, Ill. – Using artificial intelligence (AI), breast radiologists in Denmark have improved breast cancer screening performance and reduced the rate of false-positive findings. Results of the study were published today in Radiology, a journal of the Radiological Society of North America (RSNA). Mammography successfully reduces breast cancer mortality, but also carries the risk of false-positive findings. In recent years, researchers have studied the use of AI systems in screening. “We believe AI has the potential to improve screening performance,” said Andreas D. Lauritzen, Ph.D., a post-doctoral student at the University of Copenhagen and researcher ...

A new study by Carnegie Mellon University researchers found that when roboticists and people with disabilities collaborate on robot designs, interesting ideas emerge that could make existing robots more accessible and inspire new uses. In their research, School of Computer Science faculty members Sarah Fox and Nikolas Martelaro highlight potential issues sidewalk robots encounter during deployment and propose solutions to mitigate them before the robots hit the streets. Their new study, led by Human-Computer Interaction Institute (HCII) Ph.D. student Howard Han, was presented last month at the ACM Conference on ...

A new study by Florida Atlantic University’s Schmidt College of Medicine has uncovered a disturbing trend in drug-related infant deaths in the United States from 2018 to 2022. Infant deaths are those that occur between the time a child is born and age 1. Drug-involved deaths are those in which drugs are either the primary cause of death or a contributing factor and may occur due to maternal drug use, inadvertent or accidental intake of specific prescriptions, illicit or non-medical use of drugs and other incidents where drugs were linked to death. Results of the study, published in the Journal of Perinatal Medicine, show that in the U.S. from 2018 to 2022, drug-involved ...

Scientists at Duke-NUS Medical School have identified how the first domino falls after a person encounters an allergen, such as peanuts, shellfish, pollen or dust mites. Their discovery, published in the April issue of Nature Immunology, could herald the development of drugs to prevent these severe reactions. It is well established that when mast cells, a type of immune cell, mistake a harmless substance, such as peanuts or dust mites, as a threat, they release an immediate first wave of bioactive chemicals against the perceived threat. When mast cells, which reside under the skin, around blood vessels and in the linings of the airways and the gastrointestinal tract, simultaneously release ...

As sad as it is, child maltreatment continues to be a prevalent global social issue. Recent studies have revealed that up to one billion children aged two to 17 experience some form of abuse or neglect every year. While it is possible that some children may eventually overcome these experiences, abundant evidence indicates that child abuse can continue to have a lasting negative impact on brain and mental development, even as these children age. Therefore, prioritizing the prevention of this menacing behavior is crucial. One way to pursue this goal is to focus on the underlying causes that lead to the perpetuation of abuse, ...

SAN FRANCISCO—June 4, 2024—In recent years, technologies that allow scientists to study a person’s DNA at single-molecule resolution have vastly expanded our knowledge of the human genome, the microbiome, and the genetic basis of disease. With such a detailed view of DNA, it’s possible to see genetic variants and structural details that were simply undetectable with earlier sequencing technologies. However, today’s gold-standard methods for single-molecule analysis typically require at least 150,000 human cells—containing millions of individual DNA molecules. That means researchers can’t apply these tools when just ...

DALLAS, June 4, 2024 — Significant barriers prevent or slow treatment for many patients with stroke, including long travel times to stroke center hospitals and the lack of availability of stroke specialists who can evaluate the patient and determine if they are a candidate for treatment.[1] Telehealth stroke care, also known as telestroke, can expand access to rural areas and other communities that face barriers to stroke care. A new American Heart Association certification for health care professionals is designed to help standardize training and increase skills and competencies for health care providers ...

By Jake Siegel Seattle, WASH.—June 4, 2024—The Allen Institute for Cell Science unveiled a set of tools to accelerate research into hypertrophic cardiomyopathy (HCM), the most common genetic heart condition in the world: six new cell line collections, each carrying a different mutation associated with HCM. HCM is primarily caused by mutations that thicken heart muscle and, in rare cases, lead to heart failure and cardiac arrest. The new cell line collections will help scientists investigate ...

Electron transfer (ET) is a process in which an electron is transferred from one atom or molecule to another. ET is fundamental to electrochemical reactions with applications in many fields. Nanoscale ET, which involves the transfer of electrons in the range of 1–100 nanometers in solids is fundamental to the design of multifunctional materials. However, this process is not yet clearly understood. Nanotubes, nanomaterials with unique cylindrical nanostructures, offer a variety of ET properties that can be realized through electron and hole (vacant spaces left by electrons) injections into the nanotubes, making them a suitable candidate for studying nanoscale ET. Although ...

While mentally stimulating activities and life experiences can improve cognition in memory clinic patients, stress undermines this beneficial relationship. This is according to a new study from Karolinska Institutet published in Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association. Researchers in the late 1980s found that some individuals who showed no apparent symptoms of dementia during their lifetime had brain changes consistent with an advanced stage of Alzheimer’s disease. It has since been postulated that so-called ...

OAKLAND, CA – New research finds that even people with an average sense of smell could be living with a natural gas leak and not know it. The peer-reviewed study, published in Environmental Research Letters, finds that small gas leaks can impact indoor air quality by introducing a number of hazardous air pollutants, including the carcinogen benzene, which researchers found in 97% of natural gas samples across North America.  “While these smaller leaks are not large enough to cause gas explosions, hard-to-smell leaks are common,” ...

The production of antibodies, essential for protecting our body against infections, is very well regulated through the action of a specific subtype of immune system cells, follicular helper lymphocytes. Now, a team led by Luís Graça, group leader at the Instituto de MedicinaMolecular João Lobo Antunes (iMM) and Professor at the Faculty of Medicine of the University of Lisbon, has dedicated itself to the detailed characterization of the functioning of these cells, in an article published today in the prestigious ...

DARIEN, IL – A new study to be presented at the SLEEP 2024 annual meeting found that drowsy driving by teenagers is a common threat to public safety on U.S. roadways. Results of the National Sleep Foundation study show that approximately one in six adolescent drivers reported having driven drowsy. Based on these responses, the authors project that 1.7 million teenage drivers have driven drowsy, and more than 400,000 teens drive drowsy at least once per week. The majority of teens pointed to work or ...