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A large genomewide association study of multiple sclerosis uncovered a number of single-nucleotide polymorphisms that have a strong statistical association with the disease. Of these allelic variants, the three with the strongest association relate to immunologic elements: a gene in the HLA region and alleles of IL2RA and IL7RA. Both IL2RA and IL7RA have been implicated in other autoimmune diseases.
This study describes 15 men who underwent sustained reversal of idiopathic hypogonadotropic hypogonadism, defined by the attainment of normal adult testosterone levels, after discontinuation of hormonal therapy. Sustained reversal seems to occur in about 10% of patients. Therefore, brief discontinuation of hormonal therapy to assess reversibility of hypogonadotropic hypogonadism is reasonable.
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In this study of 460 patients with traumatic brain injury, a post hoc analysis of a larger randomized trial comparing saline and albumin for fluid resuscitation in patients requiring intensive care, the mortality rate was significantly higher in the albumin group. These findings suggest that albumin should not be used for fluid resuscitation in patients with severe traumatic brain injury.
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A series of 133 patients with severe heart failure underwent implantation of a continuous-flow left ventricular assist device. At 6 months, 75% of the patients had undergone heart transplantation, had cardiac recovery with device explantation, or continued to receive device support without any contraindication to subsequent transplantation. Important adverse events included postoperative bleeding, stroke, heart failure, and drive-line infection.
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The authors describe three siblings, two men and one woman, with hypogonadism from isolated luteinizing hormone deficiency. They had a newly discovered homozygous 5′-splice-site mutation of the luteinizing hormone beta-subunit gene that leads to aberrant processing and thus abrogates the secretion of luteinizing hormone. This mutation appears to cause familial selective hypogonadotropic hypogonadism in both sexes.
Antiresorptive agents help to restore skeletal balance by reducing bone turnover, primarily at the tissue level. Another therapeutic approach is to enhance bone formation with the use of anabolic agents, which differ fundamentally from antiresorptive drugs in their primary mechanism of action. This article reviews the mechanisms of polypeptide anabolic agents and strontium as potential therapeutic options for osteoporosis.
A primigravida delivered a stillborn infant at 39.7 weeks' gestation. Testing was positive for group B streptococcus; she was immune to rubella, and the blood type was B Rh-positive. The pregnancy had been uneventful except for costochondritis 14 weeks before delivery and an oval-shaped red rash with central clearing on the thigh 6 weeks before delivery. On the day of admission, fetal movements ceased and contractions began. An external fetal monitor and ultrasonographic examination confirmed intrauterine fetal death.
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