Carly Peterson, a genetic counseling graduate student, received the 2022 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award. Her platform presentation explored parenting stress in raising children with sex chromosome aneuploidies, using data from the eXtraordinarY Babies Study.
The ACMG Foundation presented four Next Generation Fellowship Awards to outstanding individuals in medical genetics and genomics. Ibrahim Elsharkawi and Jessica Priestley received the awards for their dedication to biochemical genetics, with support from Bionano Genomics, Spark Therapeutics, Takeda, Sanofi-Genzyme, and Pfizer.
Researchers found that different regions of fat tissue contribute to disease risk differently in men and women, with visceral fat in men and subcutaneous fat in women being linked to diabetes onset. The study suggests that understanding these sex-specific differences can inform better clinical approaches to treating the disease.
Two studies published in Psychological Science found that counties with higher racial prejudice against Black people have more frequent stops of Black drivers. Researchers analyzed data from the Stanford Open Policing Project and Project Implicit website, revealing a strong link between regional racial attitudes and police conduct.
The BfR has developed a novel testing strategy to detect ciguatoxins in fish, which enables the reliable identification of seafood poisoning cases. This method combines cell-based assay tests and liquid chromatography-mass spectrometry (LC-MS/MS) for precise detection.
A comprehensive study of nearly 400 preterm children born before 24 weeks gestation found a high prevalence of neuropsychiatric and somatic diagnoses. The research emphasizes the importance of providing long-term habilitation and support for these children, who are at risk of developing long-term health problems.
Researchers analyzed bone density and found Spinosaurus and its relative Baryonyx had dense bones like fish-eating predators, allowing them to submerge underwater. This supports the aquatic lifestyle of these dinosaurs, contrary to previous debates.
A new NYUAD study reveals that a 'masculinity contest culture' can discourage women's participation and advancement in intellectually demanding fields. The research suggests that promoting a culture of free exchange and openness can help make workplaces more inclusive.
The Global Methane Pledge and increasing methane emissions from fossil fuels are driving a rapid rise in atmospheric methane concentration. The GOSAT satellite project has measured the total amount of greenhouse gases in the atmosphere, revealing an upward trend in methane concentrations since 2020.
The Chengjiang Biota, an ancient group of animal fossils, has been found to inhabit a shallow-marine, nutrient-rich delta environment. This discovery sheds new light on the possible causal factors for the Cambrian Explosion and how early animals adapted to stressful conditions.
Researchers found that women are less likely to undergo common heart procedures and more likely to die in the hospital after receiving them. The study analyzed data from over 2 million hospitalizations for heart procedures between 2016 and 2019, revealing significant disparities in treatment and outcomes based on sex and race.
A UCI-led study reveals how a TREM2 gene mutation in brain microglia immune cells can increase the risk of Alzheimer's disease. The research found that blocking excess calcium accumulation may be an effective way to modulate microglia behavior and fight the disease.
Researchers have created ultra-uniform nanodiamonds using a new chemical process that mimics the conditions found in natural diamond formation. The tiny crystals are crucial for drug delivery, sensors, and quantum computer processors. With this breakthrough, scientists can now control single atoms within larger structures.
Researchers created cortical organoids from patients' skin cells, mimicking focal cortical dysplasia and identifying mechanisms involved in its emergence. The model can be used to screen existing medications for patients with severe epilepsy.
The study used marinated eggs to demonstrate how diffusion works in a simple visual manner. The results showed that higher temperatures accelerated the diffusion process, with deeper penetration into the egg white over time. This experiment can be easily replicated at home or in a classroom setting.
A new study finds that forest bird nestlings are smaller and less likely to survive extreme heat, while urban birds seem to adapt better. The research highlights the fragility of natural populations and the need for further understanding and protection.
Research found that Black females and male individuals of Other racial groups had higher odds of having a positive COVID-19 test than their White counterparts. Mortality rates were similar across sexes. Individuals with opioid use disorder presented with an opioid overdose more often than a positive COVID-19 test.
A study of 383 extremely preterm babies found that most had neurodevelopmental disorders and/or other diagnoses during childhood. The children were referred for habilitation services and had a range of additional diagnoses, including asthma and short stature.
A recent study found that physicians' choice of board certification activities is unaffected by their baseline quality of care. Only a quarter of physicians reviewed their quality dashboard, and median time spent reviewing it was just 82 seconds.
Researchers at Yale have identified a remdesivir-resistant variant of the SARS-CoV-2 virus in an immunocompromised patient. The discovery raises concerns about drug resistance in COVID-19 patients, particularly those with weakened immune systems.
Researchers at University of Delaware have found that humans can detect subtle changes in chemical composition of surfaces, which could improve tactile technologies and virtual reality experiences. This discovery has potential applications in developing higher-quality tactile aids for people with visual impairments.
A new atomic nucleus, 149-Lutetium, has been synthesized at the University of Jyvaskyla, emitting protons with a record-breaking rate. This discovery provides exceptional decay properties and breaks previous records for half-life and decay energy.
A new study from George Mason University found that African Americans have lower breastfeeding rates (39.9%) compared to Black immigrants (69.6%), highlighting health disparities within the Black population. The research highlights the importance of nuanced data collection to address these disparities and improve breastfeeding outcomes.
A team of researchers collaborated with small farmers in Egypt to identify the most nutritious and climate-adapted pumpkin varieties. The study found significant variation in nutritional value among different samples, allowing for accurate identification using genetic analysis.
A scalable probabilistic model predicts EV charging demand will peak twice as high as current demand by 2030, unless charging patterns are managed. The model can account for various factors, including driver behavior, location, and timing of charges.
A recent study of Australian suburbs found that tree-inclusive gardens provide up to a 30-metre buffer during summer heatwaves, reducing energy costs. Researchers recommend incorporating deciduous trees into housing designs for better energy efficiency and urban aesthetics.
Researchers have developed a novel platform that uses sunlight to purify oil-contaminated seawater with high energy efficiency. The approach avoids common pitfalls and can produce up to 2.4 kilograms of purified water per square meter per hour, making it a promising solution for alleviating global water scarcity.
A new study finds that maternal feedback, not biological predisposition, influences reward-related brain activity in children of mothers with clinical depression. The research suggests that interventions coaching parents to encourage positive emotions may have a powerful impact on child development.
Physicists at the University of Warsaw have developed a new type of tunable microlaser that emits two linearly polarized beams, which can be controlled by rotating liquid crystal molecules. The laser has been shown to exhibit unique properties, including circular polarization and phase coherence.
A new study finds that clinics supporting patients throughout the entire FIT process improve return rates and reduce colorectal cancer-related illness. Additionally, a telephone survey for dementia detection shows promise as a low-cost diagnostic tool, especially in primary care settings.
A nationwide case-time-control study found that new users of antidopaminergic antiemetics (ADAs) could be at a three-fold increased risk of stroke shortly after treatment started. The risk was highest for metopimazine and metoclopramide, which cross the blood-brain barrier.
Researchers have developed a new generation of microcantilever technology that enables precise hydrogen sensing with low humidity cross-sensitivity. The new design integrates a microcantilever beam into an optical fiber, resulting in smaller and cheaper devices with stronger signal processing capabilities.
A new study reveals that American Indian communities are less likely to benefit from recent downward trends in fine particulate matter (PM2.5) concentrations in the US. Average PM2.5 concentrations were higher in AI-populated counties compared to non-AI populated counties by 2018, contrary to previous declines.
The FDA has approved a novel combination therapy of relatlimab and nivolumab for patients with metastatic or inoperable melanoma. The treatment significantly delayed cancer progression time compared to nivolumab alone. LAG-3 blockade reinvigorated T cell anti-tumor activity, establishing the pathway as the third immune checkpoint target.
A Spanish national registry study found that over half of diagnosed lung cancer patients undergo biomarker testing, with a significant increase over the last five years. Nearly half of patients with positive test results received targeted treatment.
Researchers have developed biobased materials derived from fungi that can produce sustainable faux leather, paper products, and cotton substitutes. These materials have properties comparable to traditional materials, with the added benefit of being 100% biobased and taking less time to produce.
Researchers at Rice University have developed a new type of electronics using undulating graphene, which creates mini channels that produce detectable magnetic fields. This technology has the potential to facilitate nanoscale optical devices and valleytronics applications, such as converging lenses and collimators.
Dr. Steven A. Rosenberg's pioneering work on IL-2 and its use in treating metastatic melanoma and other cancers led to the FDA approval of first U.S.-born cancer immunotherapy. His subsequent research on CAR T-cell therapy has resulted in promising clinical results for various types of cancer.
Researchers developed long-lived biological computers using RNA, which can persist inside cells. Unlike DNA-based devices, these RNA circuits are dependable and versatile, enabling continuous production in living cells.
The study presents experimental evidence for Fermi arcs in antiferromagnets, which are fundamentally different from previously reported cases of magnetic splittings. The findings could lead to novel applications in spintronics by exploiting the unique properties of these materials.
A new study published in Multiple Sclerosis and Related Disorders found that individuals with multiple sclerosis experienced increased depression, anxiety, and loneliness during the COVID-19 pandemic. The research suggests that pandemic-related stress may exacerbate mental health issues in MS patients.
Scientists at University of Illinois and Mie University develop monoclonal antibodies to prevent lung cell death in mouse models of idiopathic pulmonary fibrosis and acute respiratory disease syndrome. Non-invasive diagnostic tools also presented could aid in predicting disease progression and identifying patients at risk.
Researchers create OLID-SDOM to map weak fluorescence anisotropy in live cells, achieving high-resolution images of subcellular structures at 100 frames per second. The method overcomes limitations of previous techniques, enabling the study of molecular arrangement and rotation in biological systems.
The team used a microscale diffuser to distribute ultrasound waves uniformly, reducing the risk of over-exposure or under-exposure. The device successfully stimulated cells in human embryonic kidney cells and neuron cells, as well as mice, with improved targeting.
A new study published in Neurology found that people taking statin drugs have a lower chance of developing parkinsonism later compared to those who were not taking statins. Statins may help reduce the risk due to their protective effect on arteries in the brain.
A consensus reached by a lung clinical community highlighted international disparities in management and outcomes of patients with lung cancer. The roadmap provides key actions to homogenize practices, facilitate earlier diagnosis, and offer equitable access to care.
A team of high school students, led by science teacher Rebecca Bushway, designed an inexpensive filter attachment that removes lead from tap water. The filter uses a biodegradable plastic cartridge with a built-in indicator that turns the water yellow when lead is present.
A new paper in the American Journal of Public Health suggests that a Paris Accord-style global agreement is urgently needed to address antimicrobial resistance. The authors argue that six key lessons from the Paris Climate Agreement should form the basis of any multi-country agreement or action plan on AMR, with binding rules and unive...
Adults conceived via IVF show improved social relationships and environment quality of life, according to a new study. The research also found associations between positive psychosocial factors, such as family financial situation and relationship with parents, on adult quality of life.
Researchers at TTUHSC will investigate common mechanisms of resistance and sensitivity in alternate telomere lengthening (ALT) cancers, with a focus on targeting ATM kinase inhibitors for therapy. The team aims to develop clinical trials for patients with ALT+ cancers.
A study found that only 28% of individuals needing opioid use disorder treatment received medication, with significant disparities among racial and ethnic groups. The findings highlight critical gaps in treatment engagement and access to effective medications like methadone, buprenorphine, or naltrexone.
A multidisciplinary clinical pathway for functional neurological disorder (FND) patients has been successfully implemented at Spaulding Rehabilitation Hospital. The approach optimizes patient care through collaboration among healthcare professionals. This study aims to provide a roadmap for other institutions and encourage broader deve...
The GlobalSurgBox has been shown to significantly improve residents' ability to practice essential surgical skills, overcoming barriers such as lack of convenient access and time. The tool's adaptability and user-friendliness have made it a useful resource for medical students and residents around the world.
Researchers found that sulforaphane inhibits replication of SARS-CoV-2 and HCoV-OC43 coronaviruses in cells and mice, reducing viral burden by up to 50%. Sulforaphane also helps control immune response and protects against lung injury.
A recent study by Edith Cowan University highlights the lack of information available to women with a breech presenting baby. Women often feel pressured into having a caesarean section without being fully informed of all options, including vaginal birth and alternative techniques such as moxibustion.
A new AI-driven super-resolution technique, Ghost Imaging using Deep neural network Constraint (GIDC), increases spatial resolution to more than 10 times the diffraction limit. The method uses single-pixel measurements and a physics-enhanced deep neural network to restore high-quality images.
A new article applies a health equity lens to the National Academies' recommendations for high-quality primary care. The authors propose strategies to operationalize these recommendations, aiming to eliminate existing health inequities and ensure equitable access to quality primary care.
A study found that many nursing home residents continue to receive insulin and other medications despite blood test results suggesting tight control. Only 27% of overtreated and 19% of potentially overtreated residents had their medications adjusted within 2 weeks.
Researchers found that opening stadiums to fans with safety protocols in place did not lead to an increase in local Covid case counts. The study used synthetic control method to analyze data from 16 stadiums, which mirrored the trajectory of surrounding counties without stadiums.
Scientists have developed a non-hormonal male contraceptive that effectively prevents pregnancy in mice, targeting the retinoic acid receptor alpha protein. The compound YCT529 was found to be 99% effective in preventing pregnancy without observable side effects, paving the way for human clinical trials.