Bone Abstracts

Introduction: The effectiveness of intravenous pamidronate was assessed independently and in combination with corrective osteotomy surgery for lower extremity deformities in children with osteogenesis imperfecta.Methods: Orthopaedic treatment was conducted in 21 patients with OI (type I–ten patients, type III–11 patients), including 13 males and eight females with mean age 9.4±0.6. All patients received calcium supplements and active forms...

Multiple myeloma (MM) bone disease is characterized by lytic bone lesions that contribute to patient morbidity and mortality after patients are in complete remission. The mechanisms mediating this long-term osteoblast (OB) suppression are poorly understood. We hypothesized that MM cells induce epigenetic changes at the Runx2 promoter in preOB bone marrow stromal cells (BMSC). We demonstrated that Gfi1, a transcriptional repressor of Runx2 that is induced in B...

Due to its huge socio-economic impact a better understating of osteoporotic fracture healing is crucial.Thirty-one female merino land sheep were randomly divided into four groups. (i) Untreated control-group (C, n=8); (ii) bilateral ovariectomy (OVX, n=7); (iii) OVX and calcium-deficient diet (OVXD, n=8); and (iv) OVXD and additional biweekly corticosteroid injections (OVXDS, n=8). Drill-hole defects (7.5 mm in diamete...

Objectives: Two important goals of the Rare Diseases Clinical Research Network Brittle Bone Disorders Consortium (RDCRN BBD) are i) to perform collaborative clinical research in brittle bone disorders including a longitudinal observational study driven by genotypic association and ii) to explore use of the PROMIS tool to provide valid quality of life (QOL) measures in individuals with Osteogenesis Imperfecta (OI). This work has been motivated by the fact that all current outco...

Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. Here, we report a 3-year old female patient who was diagnosed with a severe form of OI. Exome sequencing identified the same missense mutation in P4HB as reported in the original cohort, thus reinfo...

Background: Osteoporosis is common in subjects with Duchenne muscular dystrophy (DMD). Studies in paediatric DMD identified a high frequency of fragility fractures but there are no studies in the adult population. Recent updated international standards of care (2018) for children and adults with DMD recommend the following for bone monitoring:- Lateral thoracolumbar spine x-rays to screen for vertebral fracture (1–2 yearly if on glucocorticoid; 2&#1...

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Background: Observations in rodents suggest that osteocalcin (OC) participates in glucose metabolism. Data from human studies are inconclusive and it remains unclear whether OC is simply a marker of bone turnover (BTM) or if it also mediates interactions between the skeleton and glucose homeostasis. This study determined the responses of BTMs, including OC, to oral glucose tolerance test (OGTT) in obese and normal-weight subjects.Materials and methods: P...

Denosumab (DMAb) significantly improves bone strength at the hip, estimated by FEA from QCT scans, from baseline (B/L) and vs placebo (Pbo) (Keaveny ASBMR 2010). We determined the extent and distribution of mass and thickness changes at the proximal femur, a key skeletal site for fracture risk, using a novel cortical bone mapping technique on the same serial QCT scans. A FREEDOM substudy included 80 women who underwent hip QCT scanning at B/L and months 12, 24 and 36 during DM...

Participation in high impact sports during growth increases bone quality. Gymnasts have previously displayed increased bone mass and strength at both the upper and lower limbs compared with controls. However, it is not yet understood how bone microarchitecture is affected by gymnastics participation, and if this differs based on gymnastics discipline. Therefore, the objective of this study was to investigate the influence of gymnastics discipline on bone microarchitecture in a...