In this study of perinatal and infantile hypophosphatasia, patients received ENB-0040, a bone-targeted, recombinant, human tissue-nonspecific isozyme of alkaline phosphatase that is lacking in this disease. Rickets healed, and developmental milestones and pulmonary function improved.

This study analyzed the transition from normal BMD or osteopenia to osteoporosis; in women 67 years of age or older, the time for 10% to develop osteoporosis was approximately 15 years for normal BMD or mild osteopenia at baseline, 5 years for moderate osteopenia, and 1 year for advanced osteopenia.

Mutations in a vitamin D–metabolizing enzyme were found in patients with idiopathic infantile hypercalcemia. The mutations may explain the patients' vitamin D sensitivity and may be a genetic risk factor for symptomatic hypercalcemia in otherwise healthy infants given vitamin D.

The authors describe a germ-line mutation in the gene for PRKAR1A in three unrelated patients with acrodysostosis and resistance to multiple hormones. The mutated protein subunit impairs the response of protein kinase A to cyclic-AMP stimulation.

Radiographs of Swedish women with atypical subtrochanteric fractures were compared with radiographs of women with ordinary subtrochanteric or shaft fractures. The increase in absolute risk was 5 cases per 10,000 patient-years of bisphosphonate use.

This trial examined the independent and combined effects of weight loss and exercise in obese adults 65 years of age or older. The findings suggest that weight loss plus exercise provides greater improvement in physical function than either intervention alone.