Bone Abstracts

Objectives: Examine the effects of a ramped dosage schedule of pamidronate on BMD, fracture rate and location compared to a uniform 5-course regimen. The ramping regimen is intended to alter the tendency for post-treatment fractures to occur at the juncture of pamidronate bands where stress-riser related fractures have been described.Methods: Ten non-ambulatory children (seven females) with neuromuscular disabilities who received IV pamidronate with a ta...

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...

Elevated levels of circulating serotonin have been reported to decrease bone mineral density1. Conversely, reduced serotonin (5HT) in mice lacking TPH1, the rate limiting enzyme for 5HT synthesis, was reported to be anabolic to the skeleton with high osteoblastic activity2. However, in other studies TPH1 deletion led to either an initial increase in BMD due to inhibition of osteoclastic bone resorption3, or had no bone effect4</su...

Background: Surgical treatment of type 2 diabetes, specially in obese patients, has provided good results in the control of blood glucose and Hb1Ac although its effect on bone health is not clear. The aim of this study was to evaluate gene expression of bone remodelling markers in type 2 diabetic Goto-Kakizaki (GK) non-obese rats after gastrojejunal bypass and sleeve gastroplasty, and their relationship with hormonal parameters.Materials and methods: We ...

Denosumab subcutaneous administration every 6 months reduced the incidence of new fractures in postmenopausal women with osteoporosis by 68% at the spine and 40% at the hip over 36 months compared with placebo in the FREEDOM study (Cummings et al., NEJM, 2009:361:756). This efficacy was supported by differential improvements from baseline in vertebral and femoral strength at 36 months (18.2 and 8.6%, respectively) estimated by an established voxel-based finit...

Aim: Lean and bone mass have considerably high phenotypic and genetic correlations with a shared heritability estimate ranging between 30 and 40% in adults. A genome-wide association study (GWAS) on total body lean mass and a bivariate GWAS on lean mass and BMD were ran in a cohort of children to identify genes with pleiotropic effects on muscle mass and peak bone mass attainment.Methods: Subjects are part of the Generation R study, a prospective multiet...

Objectives: Creation of reference curves for areal bone mineral density (aBMD) and bone mineral content (BMC) with consideration of relevant anthropometric variables.Methods: Analysis of the dual-energy X-ray absorptiometry (DXA) data collected as part of the Bone Mineral Density in Childhood Study1, including 2012 boys and girls, 5–22 years old, with a total of 10 525 visits, resulting in aBMD and BMC observations at the lumbar spine, hi...

Objectives: As children with confirmed type 1 Gaucher disease (inherited metabolic disorder) may have linear growth retardation, we evaluated linear growth over 2 years in children enrolled in the interventional study TKT034, in which patients receiving imiglucerase enzyme replacement therapy were switched to velaglucerase alfa.Methods: Trial TKT034 enrolled patients who were ≥2 years of age with type 1 Gaucher disease and stable clinical parameter...

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Bone strength is influenced by cortical thickness, area, mass and porosity, all of which contribute to nonvertebral fracture risk. Cortical porosity is one parameter of structural decay associated with bone fragility. This is caused by unbalanced and accelerated remodelling of Haversian units which enlarge, coalesce and fragment the cortex. Antiresorptive therapies will limit progression of cortical porosity; reducing existing porosity would be a goal for those already at incr...