Bone Abstracts

Desbuquois dysplasia (DBQD) is a rare recessive chondrodysplasia, characterized by growth retardation, multiple dislocations and advanced carpal ossification. Two forms of DBQD have been described on the basis of the presence (type 1) or absence (type 2) of characteristic hand anomalies. DBQD type 1 is caused by mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), while DBQD type 2 is caused by mutations in the xylosiltransferase 1 gene.CANT1 ...

Sports specific training may have different impact on bone outcomes, and adolescence is a key period to optimize bone health. The aim was to examine hip differences on bone outcomes between osteogenic (football) and non-osteogenic (swimming and cycling) sports in adolescent males.One hundred twenty one males (13.1±0.1 years) volunteered to partake in this study that received ethics approval from the UK National Research Ethics Service. Participants ...

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...

Destruction of the articular cartilage is the major feature of Osteoarthritis (OA). Ageing is the primary risk factor, but how ageing results in OA is still an enigma. In OA, articular chondrocytes degrade their own matrix, while in healthy articular cartilage they preserve it.Transforming growth factor β (TGFβ) is a central regulator of chondrocyte proliferation, differentiation and extracellular matrix production. Deregulation of TGFβ si...

Objective: To study the trends in prescription of different anti-osteoporotic drugs (AOD) in the UK population aged 50 years or above from 1990 till 2012.Methods: Retrospective observational study using the CPRD data link representative for the total UK population. The incidence of prescription of a specific AOD was calculated by dividing the number of prescriptions by the total person-years (py) of follow-up.Results: AOD prescript...

Since the identification of LRP5 as the causative gene for the osteoporosis pseudoglioma syndrome (OPPG) as well as the high bone mass (HBM) phenotype, LRP5 and the Wnt/β-catenin signalling have been extensively studied for their role in the differentiation and proliferation of osteoblasts, in the apoptosis of osteoblasts and osteocytes and in the response of bone to mechanical loading. However, more recently the direct effect of LRP5 on osteoblasts and bone formation has...

Introduction: Vitamin D deficiency has been associated with impaired physical functioning and several chronic diseases and might thereby affect quality of life and self-rated health. The aim of this study was to assess relationships of serum 25-hydroxyvitamin D (25(OH)D) with quality of life and self-rated health, and to examine whether physical performance and number of chronic diseases mediate these relationships.Methods: Data were obtained from the LA...

Introduction: We describe a monozygotic twin pair, of which one boy was diagnosed with anorchia. Both were followed-up till age 17.Case report: At birth, in one twin 46 XY boy (A), testes were not palpable while his brother (B) was unaffected. Stimulation with human chorionic gonadotrophin (hCG) and orchidopexia were unsuccessful at age 3. A second hCG-stimulation test was performed at age 8, where serum testosterone response failed to increase. No testi...

Background: This case illustrates the longitudinal improvements quantified by serial bone mineral density scans in an adolescent female with juvenile idiopathic osteoporosis treated with pamidronate.Presenting problem: The girl in question presented at 11 years and 10 months with a 5-month history of increasing back pain. A MRI scan prior to referral had indicated vertebral collapse and osteopenia. She had no medical, social or developmental history of n...

Recent studies confirmed the role of WNT16 in bone mineral density (BMD), bone strength and fracture risk. These findings made WNT16 interesting for further genetic and functional studies to clarify its effect on osteoporosis related parameters.A WNT16 candidate gene association study was performed in men from the Odense Androgen Study (OAS). Five tagSNPs and one multimarker test were selected for genotyping to cover most of th...