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Wellens' syndrome is an electrocardiographic manifestation of critical proximal left anterior descending (LAD) coronary artery stenosis in people with unstable angina. Originally thought of as two separate types, A and B, it is now considered an evolving wave form, initially of biphasic T wave inversions and later becoming symmetrical, often ...
Waterhouse–Friderichsen syndrome (WFS) is defined as adrenal gland failure due to bleeding into the adrenal glands, commonly caused by severe bacterial infection. Typically, it is caused by Neisseria meningitidis .
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination ().
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed, particularly challenges with visual spatial tasks such as ...
This abnormality is a paraneoplastic syndrome (i.e. caused by hyperplasia or tumors). About 35% of the cases are caused by a single aldosterone-secreting adenoma, a condition known as Conn's syndrome. [7] [8] Many patients experience fatigue, potassium deficiency and high blood pressure which may cause poor vision, confusion or headaches.
In rheumatic diseases, this syndrome is more often referred to as macrophage activation syndrome (MAS) and occurs most frequently in the juvenile onset and adult onset forms of Still's disease and in systemic lupus erythematosus. It occurs rarely in juvenile idiopathic arthritis, juvenile Kawasaki disease, and rheumatoid arthritis. [7]
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). [1] It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in ...
PHA1 is an heterogeneous disease, which can be caused by mutations in different genes. On one hand, mutations on the gene NR3C2 (coding the mineralocorticoid receptor) cause the synthesis of a non-functional receptor which is unable to bind aldosterone or function correctly. In the kidney, aldosterone plays an important role of regulating ...