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Angelman Syndrome

Angelman syndrome is a disorder in humans that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has two copies of twenty-three chromosomes for a total of forty-six-one copy from its mother and one from its father. But in the case of Angelman syndrome, the maternal chromosome numbered 15 has a mutation or deletion in its DNA and a gene on the paternal chromosome 15 is inactivated in some parts the brain. The result is the paternal gene is silenced during development of the sperm, which is called genetic imprinting.

Format: Articles

Subject: Disorders

Tay-Sachs Disease

In 1881 British opthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system as manifested in the child's physical and mental retardation. This cherry-red spot is a characteristic that would eventually come to be associated with metabolic neurological disorders like Sandhoff, GM-1, Niemann-Pick, and, to the credit of Tay, the lysosomal storage disorder known as Tay-Sachs disease.

Format: Articles

Subject: Disorders

“Insulin Dependent Diabetes Mellitus: Implications for Male Reproductive Function” (2007), by Ishola Agbaje, Deirdre Rogers, Carmel McVicar, Neil McClure, Albert Atkinson, Con Mallidis, and Sheena Lewis

In 2007, Ishola Agbaje, Deirdre Rogers, Carmel McVicar, Neil McClure, Albert Atkinson, Con Mallidis, and Sheena Lewis published “Insulin Dependent Diabetes Mellitus: Implications for Male Reproductive Function,” hereby “Diabetes Mellitus: Implications,” in the journal Human Reproduction. In their article, the authors explore the effects of elevated blood sugar in the form of diabetes mellitus on the quality of male sperm.

Format: Articles

Subject: Publications, Disorders