May 8, 2003
May 8, 2003
Effects of Estrogen plus Progestin on Health-Related Quality of Life |
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Estrogen Excess Associated with Novel Gain-of-Function Mutations 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. Mutations such as those identified in this study may lead to frank clinical abnormalities, as in these patients, but may also have implications with respect to the risk of estrogen-dependent diseases in persons without obvious manifestations of estrogen excess.
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Risk Stratification in the Long-QT Syndrome 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. Patients at highest risk were those with corrected QT intervals of 500 msec or more, especially male patients with mutations at the LQT3 locus or patients of either sex with mutations at the LQT1 or LQT2 locus. These findings may be useful in targeting preventive interventions.
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High-Dose Chemotherapy with Hematopoietic Stem-Cell Rescue for Multiple Myeloma 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. This carefully conducted study indicates that high-dose chemotherapy plus hematopoietic stem-cell rescue is effective in patients with multiple myeloma who are less than 65 years of age.
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Effect of a Mental Health "Carve-Out" Program on the Continuity of Antipsychotic Therapy 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. Transitions to carve-out programs for mental health have the potential to put vulnerable patients at risk for disruption of necessary mental health services.
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Small Abdominal Aortic Aneurysms 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?
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A Growing Network of Cancer-Susceptibility Genes 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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