The New England journal of medicine
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Lesch-Nyhan disease is a rare, devastating, X-linked recessive disorder of purine synthesis. Patients present with hyperuricemia, choreoathetosis, dystonia, and aggressive and self-injurious behavior. Although the genetic and biochemical abnormalities have been identified, the causes of the neuropsychiatric syndrome remain unclear. ⋯ Patients with Lesch-Nyhan disease have abnormally few dopaminergic nerve terminals and cell bodies. The abnormality involves all dopaminergic pathways and is not restricted to the basal ganglia. These dopaminergic deficits are pervasive and appear to be developmental in origin, which suggests that they contribute to the characteristic neuropsychiatric manifestations of the disease.
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Randomized Controlled Trial Multicenter Study Clinical Trial
Does increased access to primary care reduce hospital readmissions? Veterans Affairs Cooperative Study Group on Primary Care and Hospital Readmission.
For chronically ill patients, readmission to the hospital can be frequent and costly. We studied the effect of an intervention designed to increase access to primary care after discharge from the hospital, with the goals of reducing readmissions and emergency department visits and increasing patients' quality of life and satisfaction with care. ⋯ For veterans discharged from Veterans Affairs hospitals, the primary care intervention we studied increased rather than decreased the rate of rehospitalization, although patients in the intervention group were more satisfied with their care.