Severe congenital neutropenia
One of several genetic disorders of the bone marrow that is evident at birth and characterized by a lack of neutrophils (a type of white blood cells that are important in fighting infection). Children with severe congenital neutropenia suffer from frequent bacterial (but not viral or fungal) infections. They are also at increased risk for acute myelogenous leukemia (AML) and myelodysplasia. Autosomal dominant and sporadic forms of severe congenital neutropenia are most frequently caused by mutation in the neutrophil elastase gene (ELA2) on chromosome 19. There is an X-linked recessive form of severe congenital neutropenia in males that is caused by mutation in the WAS gene (which is also mutated in Wiskott-Aldrich syndrome). Kostmann disease is a form of severe congenital neutropenia that is inherited in an autosomal recessive manner. Treatment of severe congenital neutropenia involves use of recombinant human granulocyte colony’stimulating factor (GCSF). GCSF elevates the neutrophil count, helps resolve preexisting infections, diminishes the number of new infections, and results in significant improvements in survival and quality of life. Patients treated with GCSF may nonetheless develop leukemia or myelodysplastic syndrome. Also known as infantile genetic agranulocytosis.
- Sex before sports
“Athletes when sluggish are revitalized by lovemaking.” In fact, sex does not impair an athlete’s performance, as proved by treadmill tests before and after intercourse. And perhaps in keeping with Pliny’s observation, lovemaking raises testosterone levels in men. Whether it truly revitalizes them is unproven.
- Sex chromosome
The X or Y chromosome in humans. (Some other species have other sex chromosomes.)
- Sex region Y
A region on the Y chromosome that determines the sex of the individual. This region which goes by the symbol SRY (sex region Y) is necessary and sufficient for male sex determination. It is the testis-determining factor. Mutations in SRY give rise to XY females with gonadal dysgenesis who appear to be normal females at […]
The exploitation of sex, often for commercial purposes. The term is a mid-20th century merger of sex and exploitation.
- Sexual child abuse
The diagnosis of sexual child abuse involves a thorough nonjudgmental history of the immediate events as well as a review of potential similar experiences often independently done by a physician, social worker, and the police department. A complete physical exam of the child which may include the taking of photographs to document sexual abuse is […]