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This study shows that variants of proteins that indirectly guide hydrolases to the lysosome are associated with stuttering. The authors analyzed genes at a locus previously implicated in stuttering and identified mutations affecting a subunit of GlcNAc-phosphotransferase and changes in genes encoding other proteins in the same enzyme complex or pathway. This unexpected finding implies a metabolic pathway in susceptibility to stuttering.
Women between 59 and 80 years of age with a bone mineral density T score of –2.5 or less at the femoral neck or spine received the selective estrogen-receptor modulator lasofoxifene (either 0.25 or 0.5 mg daily) or placebo for 5 years. Lasofoxifene was associated with lower risks of fractures, estrogen-receptor–positive breast cancer, coronary heart disease, and stroke, with no increase in endometrial cancer, but there was an increase in venous thromboembolic events.
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The optimal timing for the initiation of antiretroviral therapy in patients with both human immunodeficiency virus infection and tuberculosis is unclear. This open-label study involves 642 such patients who received antiretroviral therapy initiated either during or after the completion of tuberculosis therapy. The initiation of antiretroviral therapy during tuberculosis therapy was associated with a relative reduction of 56% in the rate of death.
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Efficient, economical screening for active tuberculosis in resource-poor environments is a challenge. Screening is particularly important when there is coinfection with human immunodeficiency virus (HIV) and therefore concomitant consideration of initiation of antiretroviral therapy and the risk of the immune reconstitution syndrome. In this study of 1748 patients in Cambodia, Thailand, and Vietnam who were infected with HIV, an assessment for the presence of one of three symptoms — cough, fever, or night sweats — for more than 21 days over the preceding 4 weeks was found to have 93% sensitivity and 36% specificity for the detection of active tuberculosis infection.
A 4-year-old boy is brought to a health center with sores on his arms and legs. He and several siblings receive a diagnosis of scabies. Crusted scabies is diagnosed in an elderly aunt in the same household. The family members are treated with topical permethrin, which disrupts the function of voltage-gated sodium channels in arthropods. The aunt is treated with oral ivermectin, which disrupts the function of chloride ion channels.
This article reviews the mechanisms that lead to the development of Graves' ophthalmopathy. A central feature in its development is autoimmunity that involves not only T cells, B cells, and macrophages but also fibroblasts and adipose tissue within the orbit. Intraorbital cytokine-mediated inflammation also has a prominent role. These recent findings suggest new ways of treating this debilitating disease.
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A 37-year-old man was seen in the oral and maxillofacial surgery clinic because of a painful lesion on the tongue. On examination, there was a tender, irregular, shallow ulcer on the left ventral surface of the tongue and a mobile, smooth, tender lymph node in the left anterior cervical chain. Scattered areas of erythema and blisters were present on the lower legs.
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