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VEXAS syndrome becomes more severe over time and carries a high mortality rate. Symptoms can be managed with high-dose corticosteroid therapy, but this can cause serious adverse effects, and symptoms typically recur after the dosage is lowered. For this reason, a variety of alternative treatments were under investigation as of 2021.
David B. Beck is an American physician-scientist, clinical geneticist, and researcher who co-discovered VEXAS Syndrome. [1] [2] [3] He holds dual appointments as an assistant professor in the Department of Medicine and the Department of Biochemistry and Molecular Pharmacology, and is a member of the Center for Human Genetics and Genomics and the Division of Rheumatology at New York University ...
Scientists at the National Institutes of Health have discovered a rare and deadly inflammatory disease affecting men called the VEXAS syndrome. The revelation, published Tuesday in the New England ...
Human infectious diseases may be characterized by their case fatality rate (CFR), the proportion of people diagnosed with a disease who die from it (cf. mortality rate).It should not be confused with the infection fatality rate (IFR), the estimated proportion of people infected by a disease-causing agent, including asymptomatic and undiagnosed infections, who die from the disease.
Daniel L. Kastner (born 1951) [1] is an American physician and researcher specialising in the genetics of autoinflammatory disorders. He is a Distinguished Investigator at the National Institutes of Health and was the Scientific Director of the National Human Genome Research Institute between 2010 to 2021.
An autoinflammatory condition identified in 2020 and named VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is due to mutation in methionine41 in UBA1, the E1 enzyme that initiates ubiquitylation. [20]
Leading cause of death (2016) (world) The following is a list of the causes of human deaths worldwide for different years arranged by their associated mortality rates. In 2002, there were about 57 million deaths.
Retinal vasculopathy with cerebral leukocencephalopathy and systemic manifestations (RVCL or RVCL-S, also previously known as retinal vasculopathy with cerebral leukodystrophy, RVCL; or cerebroretinal vasculopathy, CRV; or hereditary vascular retinopathy, HVR; or hereditary endotheliopathy, retinopathy, nephropathy, and stroke, HERNS) is an inherited condition resulting from a frameshift ...