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Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis. [2] [3] [4] PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 ...
Pseudoexfoliation syndrome, often abbreviated as PEX [1] and sometimes as PES or PXS, is an aging-related systemic disease manifesting itself primarily in the eyes which is characterized by the accumulation of microscopic granular amyloid-like protein fibers. [2] Its cause is unknown, although there is speculation that there may be a genetic ...
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...
Mayo Clinic researchers contribute to understanding disease processes, best clinical practices, and translating findings from the laboratory to clinical practice. As of 2022, research personnel included about 5,500 physicians and scientists. [30] Mayo Clinic's 2022 research funding exceeded $1 billion. [31]
As children affected by GACI due to ABCC6 Deficiency get older, they can develop characteristics similar to pseudoxanthoma elasticum (PXE). This condition affects the elastic tissue of the skin, the eye, cardiovascular and gastrointestinal systems. [7] [8] [9]
Lipedema was first identified in the United States, at the Mayo Clinic, in 1940. [ 32 ] [ 33 ] Most attribute the original identification of lipedema to E. A. Hines and L. E. Wold (1951). [ 32 ] Despite that, lipedema is barely known in the United States to physicians or to the patients who have the disease.
Primary familial brain calcification [1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, [1] is a rare, [2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. [1] This may be due to defects in single enzymes [2] important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.