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This longitudinal study involving older adults identified five trajectories during the last year of life: no disability, catastrophic disability, accelerated disability, progressive disability, and persistently severe disability. Most of the subjects who died suddenly had no disability, and most of those who died from advanced dementia had persistently severe disability; however, the course of disability was not predictable for the majority of the subjects, who died from other causes.
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Genetic diagnosis of diseases that are genetically heterogeneous — such as Charcot–Marie–Tooth disease — can be a challenge. This study involves the sequencing of an affected person's whole genome; the authors conclude that his disease was caused by mutations affecting SH3TC2 (the SH3 domain and tetratricopeptide repeats 2 gene).
Dutasteride, an inhibitor of 5α-reductase in the prostate, was tested in a large, randomized trial to determine its ability to prevent prostate cancer. Over the 4 years of the trial, dutasteride, as compared with placebo, reduced the relative risk of biopsy-detected prostate cancer by 23%. The reduction was limited mainly to tumors with Gleason scores of 5 or 6; by year 4, there were 12 tumors with Gleason scores of 8 to 10 in the dutasteride group but only 1 in the placebo group.
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In a patient with muscle weakness and cardiac arrhythmia, marked depletion of glycogen was shown in skeletal muscle and an accumulation of abnormal storage material was shown in the heart. Sequencing of the glycogenin-1 gene revealed a nonsense mutation in one allele and a missense mutation, Thr83Met, in the other. These mutations resulted in inactivation of the priming of glycogen synthesis.
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Data from a national study showed that more than one quarter of older adults who died between 2000 and 2006 required decision making at the end of life but lacked decision-making capacity. Most of these subjects had advance directives (living wills, health care proxies, or both) and received care consistent with their preferences. These findings suggest that advance directives are valuable.
A 42-year-old man presents with decreased libido, erectile dysfunction, and headaches. He reports no weight change, gynecomastia, fatigue, or other symptoms. He takes no medications. Testicular size is decreased. His prolactin level is 648 μg per liter (normal value, <15). Magnetic resonance imaging reveals a sellar mass (2.5 by 1.5 by 2.0 cm) that is 5 mm below the optic chiasm and that extends bilaterally into the cavernous sinuses. What are the diagnostic and therapeutic considerations?
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On February 24, 2010, the U.S. House of Representatives passed the Health Insurance Industry Fair Competition Act, which would eliminate the antitrust exemptions granted to health insurers under the McCarran–Ferguson Act of 1945.1 The goal of the bill is ...
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