Hamilton R Cassinelli

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Homozygous mutations in TNFRSF11B, the gene encoding osteoprotegerin, were found in affected members from six of nine families with idiopathic hyperphosphatasia. The severity of the phenotype was related to the predicted effects of the mutations on osteoprotegerin function. INTRODUCTION Idiopathic hyperphosphatasia (IH) is a rare high bone turnover(More)
X-linked hypophosphatemic rickets (XLH) is characterized by inadequate skeletal mineralization. The bone mineral density (BMD) of the radius shaft and the lumbar spine was determined in 13 children with XLH. Ten patients were on treatment, whereas three patients had discontinued treatment 20-32 months prior to this study. Two of them had radiological(More)
CONTEXT Two Argentinean siblings (a boy and a girl) from a nonconsanguineous family presented with hypercalcemia, hypercalciuria, hypophosphatemia, low parathyroid hormone (PTH), and nephrocalcinosis. OBJECTIVE The goal of this study was to identify genetic causes of the clinical findings in the two siblings. DESIGN Whole exome sequencing was performed(More)
OBJECTIVE To determine the efficacy of a single oral dose of 150,000 IU of vitamin D2 at the beginning of autumn for preventing winter vitamin D deficiency in children in Ushuaia (55 degrees S). DESIGN The study was prospective. SUBJECTS 79 children clinically healthy with 8.6 +/- 1.4 y of age (X +/- s.d.). INTERVENTIONS Fasting serum venous samples(More)
The Vitamin D deficiency enhanced the risk of rickets in children. Previous studies in Ushuaia <55°S) showed that the 47% of infant population have diminish levels of 25 hyroxy-Vitamin D <25(OH)D) (8 ng/ml) at the end of winter, being normal at end of summer. To prevent the vitamin D deficiency a single dose of 150.000 IU of Vitamin-D2 was given to a group(More)
A 5-year-old child suffering from familial idiopathic hyperphosphatasia (FIH) was treated by: (1) intravenous infusion of pamidronate (APD) (3 h) (0.75 mg/kg/day) for 5 days; and (2) oral administration of APD (8 mg/kg/day) for 1 year, in association with calcium (1 g/day) as calcium gluconate. A decrease of both serum calcium and phosphate, and a slight(More)