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In 95 Asian Indian men, single-nucleotide polymorphisms in the apolipoprotein C3 gene were genotyped to detect variant alleles associated with hypertriglyceridemia. Carriers of the variant alleles had increased plasma apolipoprotein C3 concentrations and reduced triglyceride clearance, as compared with wild-type homozygotes. Nonalcoholic fatty liver disease was found in 38% of the variant-allele carriers but in 0% of the wild-type homozygotes. These results were confirmed in 163 non–Asian Indian men.
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Two siblings from a consanguineous family who had autosomal recessive renal Fanconi's syndrome and hypophosphatemic rickets were found to have a homozygous in-frame duplication of 21 bp in SLC34A1, the gene that encodes the renal sodium–phosphate cotransporter NaPi-IIa. This mutation results in complete loss of function of the mutant NaPi-IIa, since the transporters fail to reach the plasma membrane. These findings show that disruption of human NaPi-IIa profoundly impairs overall renal phosphate reabsorption and proximal-tubule function.
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The association between hospital volume and patient mortality has been established for some surgical procedures but is unclear for medical conditions. In this analysis of claims data from Medicare beneficiaries who were hospitalized for acute myocardial infarction, heart failure, or pneumonia, admission to higher-volume hospitals was associated with lower mortality.
A 50-year-old man with a history of lung cancer presents with headaches and right-arm numbness; he is found to have a single brain metastasis. Stereotactic radiosurgery is recommended as part of his care. Stereotactic radiosurgery uses multiple narrowly focused beams of radiation to treat one or a few focal lesions while minimizing effects on the surrounding tissue.
A 37-year-old right-handed woman was admitted to this hospital because of a 7-month history of intermittent paresthesias, followed by slurred speech, headaches, ataxia, and cognitive difficulties. Treatment with corticosteroids, verapamil, and azathioprine resulted in little improvement. Imaging studies showed lesions in the cerebral and cerebellar white matter. Gait imbalance, unsteadiness, and visual hallucinations developed. A diagnostic procedure was performed.
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