The New England journal of medicine
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The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies in mice suggests a key role for this factor in ovarian development and function as well. ⋯ NR5A1 mutations are associated with 46,XX primary ovarian insufficiency and 46,XY disorders of sex development.
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Comment Letter
Antimalarial therapies in children from Papua New Guinea.
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National and population-based information on the increase in patient care by hospitalists in the United States is lacking. ⋯ These analyses of data from Medicare claims showed a substantial increase in the care of hospitalized patients by hospitalist physicians from 1995 to 2006.
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The diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) can be challenging because the clinical presentation is highly variable and genetic penetrance is often low. ⋯ Routine immunohistochemical analysis of a conventional endomyocardial-biopsy sample appears to be a highly sensitive and specific diagnostic test for ARVC.