Feb 1 2019 Genetic testing improves the diagnoses of abnormalities in developing babies that are picked up during ultrasound scans, scientists report today (31 January) in The Lancet. Scientists from the Wellcome Sanger Institute, University of Cambridge, University of Birmingham, Great Ormond Street Hospital (GOSH) and their collaborators used genome sequencing to improve the diagnoses […]Continue Reading ...
–CHOP Researchers Report Potential Treatment that Restores Normal Anatomy in Animal Models– Pediatric researchers have identified a gene mutation that causes a serious lymphatic condition, and used that knowledge to restore normal lymphatic vessels in model animals. The laboratory findings may lead to a new therapy for patients with this type of abnormal lymphatic circulation. […]Continue Reading ...
Previously, research has shown that children at risk of an autism diagnosis respond less to hearing their own name. Now, a new study from Ghent University shows for the first time that the brain response to hearing one’s own name is also diminished in adults with an autism diagnosis. The study was conducted by Dr. […]Continue Reading ...
Light microscopy images of retinas from animal model of Smith-Lemli-Opitz Syndrome (SLOS). Treatment with antioxidant combination therapy (right) preserved normal retinal structure and prevented degeneration and death of photoreceptor cells (rods and cones). Credit: Steven Fliesler A new study led by vision researchers at the Jacobs School of Medicine and Biomedical Sciences at the University […]Continue Reading ...
What if the symptoms and seriousness of certain inflammatory diseases were linked to time of day? Researchers from Inserm, Institut Pasteur de Lille and Université de Lille have been working on this hypothesis, after noting that the seriousness and mortality associated with fulminant hepatitis were dependent on the time at which the disease was induced. […]Continue Reading ...
Action Points Note that this observational study found a high rate of KRAS mutations in tissue samples of brain arteriovenous malformations. Be aware that these mutations were not detected in peripheral blood, suggesting they are acquired at some point during life. Arteriovenous malformations of the brain may arise due to a genetic mutation, acquired later […]Continue Reading ...
A montage of three images of single striatal neurons transfected with a disease-associated version of huntingtin, the protein that causes Huntington’s disease. Nuclei of untransfected neurons are seen in the background (blue). The neuron in the center (yellow) contains an abnormal intracellular accumulation of huntingtin called an inclusion body (orange). Credit: Wikipedia/ Creative Commons Attribution […]Continue Reading ...
Credit: University of Michigan A new study finds that patients with fibromyalgia have brain networks primed for rapid, global responses to minor changes. This abnormal hypersensitivity, called explosive synchronization (ES), can be seen in other network phenomena across nature. Researchers from the University of Michigan and Pohang University of Science and Technology in South Korea […]Continue Reading ...
Child with AEC syndrome. Credit: Virginia Sybert Mutations in the p63 protein lead to a number of disorders, but none is as severe as the AEC syndrome. Scientists at Goethe University Frankfurt in collaboration with a research group from the University of Naples Federico II have now discovered that this syndrome resembles diseases such as […]Continue Reading ...
Credit: Canadian Light Source A team of researchers from McGill University has advanced the scientific understanding of abnormal mineral accumulation in arteries, a complication often seen in patients with chronic kidney disease and diabetes. Mineralized arteries may affect heart functions, leading to death in some instances. Team leader Marta Cerruti, using the tools of the […]Continue Reading ...
Credit: CC0 Public Domain It is a parent’s nightmare: a child is born apparently healthy, then stops meeting developmental milestones at one year old. Her verbal and motor skills vanish, and irregular breathing, seizures, and a host of other problems appear. The cause is Rett syndrome—a devastating genetic, neurologic disorder that typically affects girls, resulting […]Continue Reading ...
CLCN2-related leukoencephalopathy is a disorder that affects the brain. People with this condition have neurological problems that become apparent anytime from childhood to adulthood; the problems generally do not worsen much over time. Most affected individuals have difficulty with coordination and balance (ataxia) but can walk without support, and many have frequent headaches. Individuals diagnosed […]Continue Reading ...
(HealthDay)—Gene therapy may have the potential to eradicate HIV in people infected with the virus, new animal research suggests. The science centers around the use of “chimeric antigen receptor” (CAR) genes. In laboratory work with monkeys, these engineered cells have destroyed HIV-infected cells for more than two years, scientists reported. “Theoretically, the goal is to […]Continue Reading ...
Yao syndrome (formerly called NOD2-associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with Yao syndrome, part of the immune system […]Continue Reading ...
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