Bone Abstracts

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...

Prof. David Little received his Medical Degree from the University of Sydney where he is Conjoint Professor of Paediatrics and Child Health, specialising in Orthopaedic Surgery. Prof. D Little is Head of Orthopaedic Research and Biotechnology at The Children’s Hospital at Westmead, part of the Sydney Children’s Hospital Network. He has broad clinical interests in Children’s Orthopaedi...

Analysis of genome wide data such as transcriptomics can identify genes of potential interest to bone biology. These techniques are primarily hypothesis-generating. Determining the role of candidate factors in bone ultimately requires in vivo experiments. Gene expression analysis of mouse osteoclast differentiation identified G protein-coupled receptor 137B (GPR137b) as highly upregulated. GPR137b is an orphan seven-pass transmembrane receptor of unknown func...

Introduction: Activated protein C (APC) plays an important role in the cutaneous healing of chronic wounds arising from orthopaedic surgery and has cytoprotective and anti-inflammatory properties which may also assist bone repair. The aim of this study was to examine whether APC could directly influence osteoblasts and increase bone formation in a rodent model.Methods: Proliferation of MG-63 osteoblast-like cells was quantified by MTT assay and direct co...

Objective: Bone metabolism was studied in patients with phosphate diabetes before and after medication.Methods: 39 patients with phosphate diabetes age 2–18 years (7.8±4 years, 64% male) and multiplanar deformities of the lower extremities were treated with monthly vitamin D (2000 IU/day), alfacalcidol (0.25 mg/every other day) and calcium glycerophosphate (600 mg/day) for 6 months.Biochemical indices were evaluated befor...

Recent studies have demonstrated that the global or osteoblast-specific deletion of neuropeptide Y Y1 receptor (Y1R), as well as the pharmacological blockade of Y1R, leads to pronounced anabolic effects in bone metabolism. This suggests that anti-Y1R drug therapy might have clinical applications for the prevention/recovery of bone loss occurring in osteoporosis. Given the high fracture incidence in this target population, it remained...

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...

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...

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Tibial dysplasia, which leads to fracture and pseudarthrosis, occurs in around 4% of children with NF1, and also in children with no underlying disorder. Pseudarthrosis of the fibular may or may not be present, or as an isolated entity, as can pseudarthrosis in the forearm (rare). Other bone problems faced by individuals with NF1 are scoliosis (20%), pectus excavatum/carinatum (12%), and sphenoid wing dysplasia (7%). Dural ectasia and plexiform neurofibromas can also affect th...