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Niemann-Pick Disease

In 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with jaundice, nervous system and brain impairments, swollen lymph nodes (lymphadenopathy), and an enlarged liver and spleen (hepatosplenomegaly). He reported that these anatomical disturbances resulted in the premature death of the child at the age of eighteen months. After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher's disease.

Format: Articles

Subject: Disorders

Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome (AIS) is a human disorder in which an individual's genetic sex (genotype) differs from that individual's observable secondary sex characteristics (phenotypes). A fetus with AIS is genetically male with a 46,XY genotype. The term 46,XY refers to the chromosomes found in most cells of the fetus. Most cells have a total of 46 autosomes, or non-sex chromosomes, and a pair sex chromosomes, XX for genetic females, or XY for genetic males.

Format: Articles

Subject: Disorders

Transposition of the Great Arteries (TGA)

Transposition of the great arteries or TGA is a potentially fatal congenital heart malformation where the pulmonary artery and the aorta are switched. The switch means that the aorta, which normally carries oxygenated blood, carries deoxygenated blood. There are two types of the malformation, d-TGA where no oxygen reaches the body and l-TGA where some oxygenated blood circulates. In the US, the Centers for Disease Control estimate that about 1,901 infants are born each year with TGA, or about one for every 2,000 births.

Format: Articles

Subject: Disorders