An international team of researchers has identified a gene responsible for the onset of pigmentary glaucoma, which may lead to new therapies for the condition. “People who traditionally we wouldn’t think of having glaucoma—young males in their 20s and 30s—are at particular risk for this form of the disease and of losing their vision,” said […]
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Discovery of novel mechanisms that cause migraines
Researchers at CNRS, Université Côte d’Azur and Inserm have demonstrated a new mechanism related to the onset of migraine. They found how a mutation that causes dysfunction in a protein which inhibits neuronal electrical activity induces migraines. These results, published in Neuron on December 17, 2018, open a new path for the development of anti-migraine […]
Age-related increase in estrogen may cause common men’s hernia
An age-related increase in estrogen may be the culprit behind inguinal hernias, a condition common among elderly men that often requires corrective surgery, according to a Northwestern Medicine study was published Oct. 15 in Proceedings of the National Academy of Sciences. The study, led by Dr. Serdar Bulun, chair and the John J. Sciarra Professor […]
Solving a medical mystery: Cause of rare type of dwarfism discovered
For children born with Saul-Wilson syndrome, and their parents, much of their lives are spent searching for answers. First defined in 1990, only 14 cases are known worldwide. And the cause of the syndrome—characterized by short stature, microcephaly (small head), hearing loss and early developmental delays—remained unknown. Today, these individuals have answers. “This is the […]
Researchers discover possible cause for Alzheimer’s and traumatic brain injury
Rutgers researchers have discovered a new mechanism that may contribute to Alzheimer’s disease and traumatic brain injury. They now hope to launch a clinical trial to test the treatment in humans. What causes Alzheimer’s is unknown, but a popular theory suggests a protein known as amyloid-beta slowly builds up a plaque in the brains of […]
Low levels of carbon monoxide poisoning can be very difficult to spot – and can cause brain damage
Carbon monoxide (CO), like many gases, cannot be detected by our human senses. We cannot see it, smell it or taste it. But unlike many gases, small amounts are extremely harmful to us. In 2015 (the most recent year for which statistics are available), 53 people in the UK died from accidental carbon monoxide poisoning. […]
BPA replacements in plastics cause reproductive problems in lab mice
Twenty years ago, researchers made the accidental discovery that the now infamous plastics ingredient known as bisphenol A or BPA had inadvertently leached out of plastic cages used to house female mice in the lab, causing a sudden increase in chromosomally abnormal eggs in the animals. Now, the same team is back to report in […]
Stray proteins cause genetic disorders
The seizures typically begin in the first months of life. It often takes years, however, before those suffering from the rare glucose transporter type 1 (Glut1) deficiency syndrome obtain a correct diagnosis. If the disorder goes untreated, affected children experience developmental delay and frequently have neurological problems. Various defects in one gene underlie the syndrome. […]
New urine dipstick test detects cause of disease that blinds millions
Scientists at Scripps Research have developed a urine diagnostic to detect the parasitic worms that cause river blindness, also called onchocerciasis, a tropical disease that afflicts 18 to 120 million people worldwide. Described in the journal ACS Infectious Diseases, the new, non-invasive test may provide an inexpensive method of determining in real time whether a […]
Microvascular dysfunction—a common cause of heart failure with preserved pumping capacity
Microvascular dysfunction, or small vessel disease, can be an important cause of heart failure with preserved ejection fraction (preserved pumping capacity), according to an international team including researchers from Karolinska Institutet and AstraZeneca. Their study is published in The European Heart Journal. The results could play a crucial role in identifying people at risk for […]