Integrative exome sequencing and machine learning identify new genes contributing to systemic sclerosis risk
- medicalxpress.com language
- 2025-06-17 03:33 event
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The number of older women living with a history of breast cancer in the U.S. is growing, which is due to new diagnoses in patients over 65 and because many women diagnosed at a younger age are living longer.
Liver transplant is a lifesaving surgery, but a significant number of patients experience organ rejection or other complications. Now a study by scientists from Georgetown University and MedStar Health describes how a single blood sample can be used to catch problems at the earliest stages, allowing tailored treatment to prevent the organ's failure.
Treating rare diseases can be complicated at the best of times, and it gets even more complicated when different patients with the same disease exhibit different symptoms. Now, researchers from Japan have reported a cellular signature that might explain why some patients with autoimmune disease are stable while others face life-threatening complications.
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Despite overall progress in bringing down low birthweight numbers across India over the past 30 years, rates remain stubbornly high in certain states, with Uttar Pradesh, Bihar, Maharashtra, and West Bengal accounting for almost half of all such births, finds research published in BMJ Global Health.
Researchers at VCU Massey Comprehensive Cancer Center have developed a novel algorithm that could provide a revolutionary tool for determining the best options for patients—both in the treatment of cancer and in the prescription of medicines.
As concern grows over racial bias in common medical tools like pulse oximeters, a new study shows that smartphones may offer a simple, accessible way to help correct the problem. Researchers at Brown University and Morgan State University have developed a method for using smartphone cameras to objectively measure skin tone, a factor known to affect the accuracy of pulse oximetry—the technique that monitors oxygen levels through the skin.
A study published in the Annals of Internal Medicine estimates the potential effects on Medicaid enrollment, uninsurance, financial strain, health care access, and health outcomes from potential Medicaid budget cuts being considered in Congress, including the House reconciliation bill advanced in May.
Systemic sclerosis (SSc) is a severe autoimmune disease with complex genetic causes. Some genetic contributors have been identified, but others remain unknown, which has impeded development of targeted treatments. In a new study published in Annals of the Rheumatic Diseases, researchers at Baylor College of Medicine and collaborating institutions used complementary approaches that integrate exome sequencing and evolutionary action machine learning to identify protein changes and their associated mechanisms in SSc.
Multiple sclerosis (MS) affects an estimated 2.3 million people worldwide. Approximately 80% of people with MS have inflammation in the cerebellum, the part of the brain that helps control movement and balance, potentially leading to tremors, poor coordination, and trouble with motor control. These problems often persist and can worsen over time, as the cerebellum gradually loses healthy brain tissue.
Huntington's disease has long defied attempts to rescue suffering neurons. A new study in Cell Reports shows that transplanting healthy human glial progenitor cells into the brains of adult animal models of the disease not only slowed motor and cognitive decline but also extended lifespan. These findings shift our understanding of Huntington's pathology and open a potential path to cell-based therapies in adults already showing symptoms.
Dads with poor mental health may be impacting the development of their kids, with Australian research linking mental distress in fathers to poorer social-emotional, cognitive, language, and physical development in their kids. The review, which pooled together the results from 84 studies across 48 groups of people, found that these impacts were generally stronger for mental distress after birth than before birth, suggesting that a father's mental state may exert a more direct influence on the developing child after birth.
A research team has identified genetic factors that influence the shape of subcortical brain regions—far beyond volume measurements. The results could open up new approaches for the early detection of neurological and mental disorders.
In today's world, we hear a lot about what we should eat: more vegetables, less sugar and salt, and to obtain locally sourced, sustainable, and nutrient-rich food. But there's a fundamental question most people don't think about: How do we actually know what is in our food? The answer lies in food composition databases (FCDBs), which are collections of data about the nutritional content of different foods, from macronutrients like protein and fat, to vitamins, minerals and specialized biomolecules like antioxidants and phytochemicals.
Devices made with cheap strips of paper have outperformed two other testing methods in detecting malaria infection in asymptomatic people in Ghana—a diagnostic advance that could accelerate efforts to eliminate the disease, researchers say.
Thousands of bacterial and other microbial species live in the human gut, supporting healthy digestion, immunity, metabolism and other functions. Precisely how these microbes are protected from immune attack has been unclear, but now a study led by Weill Cornell Medicine investigators has found that this immune "tolerance" to gut microbes depends on an ancient bacterial-sensing protein called STING—normally considered a trigger for inflammation. The surprising result could lead to new treatments for inflammatory bowel disease and other conditions involving gut inflammation.
Researchers at Karolinska Institutet and Lund University in Sweden have identified a new treatment strategy for neuroblastoma, an aggressive form of childhood cancer. By combining two antioxidant enzyme inhibitors, they have converted cancer cells in mice into healthy nerve cells.
In children with undernutrition, increasing weight in a child's first decade of life can lead to significantly taller adults—with no increase in the risk of obesity or high blood pressure later in life, according to a new University of Michigan study.