THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage.

Background And Purpose: A ruptured intracranial aneurysm (IA) is the leading cause of a subarachnoid hemorrhage. This study seeks to define a specific gene whose mutation leads to disease.

Methods: More than 500 IA probands and 100 affected families were enrolled and clinically characterized.

Congenital toxoplasmosis presenting with fetal atrial flutter after maternal ingestion of infected moose meat.

Consumption of undercooked game meat during pregnancy is considered a risk factor for congenital toxoplasmosis, but cases definitively linking ingestion of infected meat to clinical disease are lacking. We report a confirmed case of congenital toxoplasmosis identified because of atrial flutter in the fetus and linked to maternal consumption of Toxoplasma gondii PCR-positive moose meat.

Introduction to genetic processes in transplantation.

Recent investigations have explored how analyses of genetic DNA from organ donors and recipients may be helpful during organ allocation so as to reduce graft rejection or improve dosing of immunosuppressive medications. This discussion reviews those data and the processes by which genetic coding controls the production of protein that is important in cellular structure and function during donor and recipient care. Changes in gene structure (polymorphisms or mutations) may occur spontaneously or as a result of cell interactions with environmental factors, and may be associated with recognized diseases or, potentially, could reduce or worsen graft rejection.