Parkes-Weber syndrome in the emergency department.

This case report describes a 20-year-old woman presenting to the emergency department (ED) with unilateral leg swelling. After multiple visits to the ED and workups with rheumatology, dermatology, interventional radiology and genetics, she was finally diagnosed with Parkes-Weber syndrome. The purpose of this case report is to illustrate the common and uncommon presentations, mimickers and work-up of Parkes-Weber syndrome as well as provide a brief overview of vascular malformations in general.

CASPASE-12 and rheumatoid arthritis in African-Americans.

CASPASE-12 (CASP12) has a downregulatory function during infection and thus may protect against inflammatory disease. We investigated the distribution of CASP12 alleles (#rs497116) in African-Americans (AA) with rheumatoid arthritis (RA). CASP12 alleles were genotyped in 953 RA patients and 342 controls.

Presence of the functional CASPASE-12 allele in Indian subpopulations.

Most humans lack a functional CASP12 gene, with the nonfunctional variant (CASP12p1), found in 100% of the Caucasian and east Asian population, and in approximately 80% of people of African descent. However, 20% of Africans carry an intact allele of CASP12, which produces a full-length pro-enzyme and increases the risk of sepsis. We examined CASP12 allele distribution in persons from central and southern Asia and found that CASP12 was significantly present in members of the Dravidian language group, particularly in persons from the Indian state of Tamil Nadu.

A possible mechanism for maintenance of the deleterious allele of human CASPASE-12.

In humans, a functional CASPASE-12 (CASP12) gene has been identified only in persons of African heritage and has been suggested to play a regulatory role in response to bacterial pathogens and in promoting and increased susceptibility to sepsis. The existence of a gene whose effect is deleterious, and which has been the subject of extensive negative selection in the rest of the human population, implies the simultaneous presence of some selective benefit for persons having CASP12. Given the importance of inflammatory immune responses in controlling the initial stages of infection, and the role that CASP12 plays in down-regulating inflammation, we hypothesize that pathogens which exploit the inflammatory response are restrained by an active CASP12 gene product.

Women and anabolic steroids: an analysis of a dozen users.

Objective: To provide an in-depth analysis of 12 female self-reported anabolic-androgenic steroid (AAS) users.

Design: Web-based survey.

Setting: A Web-based survey was posted on 38 discussion boards of various fitness, bodybuilding, weightlifting, and steroid Web sites between February and June 2009.