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May 8, 2003 Vol. 348 No. 19
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The Women's Health Initiative previously established that therapy with estrogen and progestin does not prevent disease in postmenopausal women. In the same large, randomized, placebo-controlled trial involving postmenopausal women 50 to 79 years of age, estrogen plus progestin did not provide any clinically meaningful benefits in terms of 12 aspects of health-related quality of life, including energy, mood, cognition, sleep, and sexual satisfaction.
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The authors describe gynecomastia of prepubertal onset and hypogonadotropic hypogonadism due to estrogen excess in a father and his son and an unrelated boy. They identified novel gain-of-function mutations (the same one in the father and son and another in the unrelated boy) in chromosome 15 that gave rise to cryptic promoters for the aromatase gene, leading to the overexpression of aromatase and high estrogen levels.
The most common causes of the inherited long-QT syndrome are mutations in either of two potassium-channel genes (at locus LQT1 or LQT2) or a sodium-channel gene (at locus LQT3). In this large study, the risk of syncope, cardiac arrest, or sudden death was influenced by the genotype of the patient, the duration of the QT interval (corrected for heart rate), and the patient's sex.
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In this randomized trial of the treatment of multiple myeloma, conventional combination chemotherapy was compared with high-dose chemotherapy plus hematopoietic stem-cell rescue. In the high-dose group, the rates of complete responses were higher and median survival was nearly a year longer than in the conventional-therapy group.
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In an effort to contain Medicaid costs, many states have transferred responsibility for mental health services to behavioral health organizations, which provide a package of mental health services in exchange for a fixed payment per Medicaid beneficiary. This study found that Tennessee's shift to such a mental health “carve-out” program was associated with reduced adherence to antipsychotic therapy among patients with severe mental illness.
A 68-year-old man with a 50-year history of smoking presented with amaurosis fugax and was found to have an incidental intrarenal aortic dilatation, with a maximal diameter of 3.2 cm. After five years of routine follow-up, the aortic diameter has increased to 4.8 cm. What is the appropriate follow-up for and management of this case?
Over the past couple of years, there has been a surge in the rate of discovery of proteins that interact with the products of the breast-cancer–susceptibility genes BRCA1 and BRCA2. Several findings link the BRCA proteins and proteins that are mutant in Fanconi's anemia. This link provides not only a more detailed picture of how DNA is repaired, but also strategic targets for experimental therapies.
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