Syndrome Evaluation

Syndrome Evaluation

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Do you know what is 47,XXY (Klinefelter Syndrome)?

Do you know what is 47,XXY (Klinefelter Syndrome)?

Synonyms of 47,XXY (Klinefelter Syndrome): KS, XXY male. Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. The extra X chromosome typically affects physical,...
Do you know what is Acidemia, Methylmalonic?

Do you know what is Acidemia, Methylmalonic?

General Discussion The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This results in an abnormally high level of acid in the blood (academia) and body...
Do you know what is Acidemia, Methylmalonic?

Do you know what is Autoimmune Polyglandular Syndrome Type 1?

Autoimmune Polyglandular Syndrome Type 1 NORD gratefully acknowledges Noel K. Maclaren, MD, Clinical Professor of Pediatrics, Weill College of Medicine of Cornell University, Director of BioSeek Endocrine Clinics, for assistance in the preparation of this report....
Do you know what is Geotherapy

Do you know what is Geotherapy

Geotherapy, also known as clay wrap or clay poultice, is an alternative medicine technique that uses hot clay to relieve muscle pain and tension. This therapy works not only because of the heat of the hot clay, but also because of the anti-inflammatory properties...
Do you know what is Acid Sphingomyelinase Deficiency?

Do you know what is Acid Sphingomyelinase Deficiency?

General Discussion Summary Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin....
Do you know what is Autoimmune progesterone

Do you know what is Autoimmune progesterone

Chat on WhatsApp 🔊 Listen to this Autoimmune progesterone dermatitis may appear as urticarial papules, deep gyrate lesions, papulovesicular lesions, an eczematous eruption, or as targetoid lesions. Autoimmune progesterone dermatitis initially manifests with...
Do you know what is Angioedema

Do you know what is Angioedema

Chat on WhatsApp Angioedema is an area of swelling (edema) of the lower layer of skin and tissue just under the skin or mucous membranes. The swelling may occur in the face, tongue, larynx, abdomen, or arms and legs. 🔊 Listen to this Often it is associated...
Do you know what is Alopecia areata

Do you know what is Alopecia areata

Chat on WhatsApp 🔊 Listen to this The disease may cause psychological stress. People are generally otherwise healthy. In a few cases, all the hair on the scalp is lost (alopecia totalis), or all body hair is lost (alopecia universalis), and loss can be...
Do you know what is Anti-synthetase syndrome

Do you know what is Anti-synthetase syndrome

Chat on WhatsApp Anti-synthetase syndrome is an autoimmune disease associated with interstitial lung disease, dermatomyositis, and polymyositis. 🔊 Listen to this As a syndrome, this condition is poorly defined. Diagnostic criteria require one or more...
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