Bone Abstracts

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Background: Measurement and interpretation of metaphyseal shape in children is difficult. We aim to develop relevant assessment methods using commonly available spiral computed tomography (CT) scanning.Methods: We analysed 12 pairs of age and pubertal stage matched subjects from a larger group of children recruited into a non-interventional case–control study in which all had suffered trauma; half had sustained a fracture. Each subject underwent ant...

Prolyl hydroxylase 2 (PHD2) regulates hypoxia-inducible factor α (HIFα) transcription factors and thus, erythropoietin (EPO) production. Under normoxic conditions, HIFα is constantly inactivated through hydroxylation by PHD2. Due to the embryonic lethality of PHD2 knock-out mice, its precise role in erythropoiesis and tissue homeostasis has long remained unknown. Recently, we generated a conditional knock-out (cKO) mouse lacking PHD2 in EPO-producing cells. Thes...

Purpose: The aim of this research was to develop an in vivo platform for conveniently examining the potential of various factors to augment chondral bone regeneration. For this purpose, we have established a de novo partial tail amputation model in adult zebrafish, which includes the resection of cartilage-template based bones from the endoskeletal caudal complex. Endoskeletal amputations were rarely studied, as opposed to those of the distal caudal fin rays, a well-e...

Background: The clinical presentation and the clinical phenotypic characterization and the natural history of Fibrodysplasia Ossificans Progressiva (FOP) is diverse and the natural history of the disease is to certain extent different from one patient to another.Methods: In a series of eleven patients age range from 0 to 16 years (eight girls and three boys), variable clinical presentations were the landmark of these patients. At birth, all our patients ...

Rural to urban migration is associated with adverse metabolic consequences, but its effect on osteoporosis risk is unclear. We investigated associations between rural to urban migration and bone mineral density (BMD) after accounting for changes in body composition. A cross sectional analysis was performed of rural–urban migrants (RUM) matched with rural non-migrated (RNM) siblings, plus a separate sample of urban-non-migrants (UNM). Participants (n=764, 54% male...

Background: Vitamin D-dependent rickets type 1 (VDDR-1) is a rare autosomal recessive disorder caused by mutations in CYP27B1. This gene encodes the 1α-hydroxylase enzyme which converts 25-hydroxy vitamin D to the active form 1,25-dihydroxyvitamin D.Objective: To describe a case of VDDR-1due to a novel CYP27B1 mutation.Presenting problem: A 27-month-old female was admitted to the Pediatric Intensive Care Unit...

Objective: With recent genome wide association studies (GWAS), ~70 loci have been robustly and reproducibly associated with adult bone density and/or osteoporosis. However, to date no systematic effort has investigated which of these loci operate early in life. We investigated whether these single nucleotide polymorphisms (SNPs) are associated with childhood areal bone mineral density (aBMD). In addition we determined if any of the associations were age dependent.<p class=...