Bone Abstracts

Geroderma osteodysplasticum (GO) is a rare autosomal recessive connective tissue disorder characterised by progeria like facies, wrinkled lax skin, joint hypermobility, congenital dislocation of hips and propensity to fragility fractures. In the past 25 years, five patients (three females and two males) diagnosed with GO were referred to our Paediatric metabolic bone service for assessment and management of secondary bone problems. All five children were born to consanguineous...

To point out common patterns of malalignment and deformity in hypophosphatemic rickets and describe treatment principles and techniques as well as common obstacles.Methods: Deformities of the lower limb in hypophosphatemic rickets do not resolve spontaneously under metabolic control of the disease. To prevent severe deformity and joint overload in the growing child guided growth has been shown to be effective in most cases. As recurrence of malalignment ...

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...

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...

Introduction: Measures of physical function may be related to osteoporosis and fractures in older individuals and may thus be used in the identification of individuals at high fracture risk.Aim: The aim of this study was to investigate which measures of physical functioning are associated with bone quality and fracture incidence and whether gender-specific differences exist within these associations.Methods: We studied 1486 partici...

Improving the effectiveness of adipose-derived human mesenchymal stromal/stem cells (AMSCs) for skeletal therapies requires a detailed molecular characterization of mechanisms supporting cell proliferation and multi-potency of AMSCs. We compared gene expression data obtained by high-throughput RNA sequencing and RT-qPCR of actively proliferating and uninduced post-proliferative AMSCs with flow cytometry data for mesenchymal stem cell markers (e.g., CD44, CD73/NT5E, CD90/THY1 a...

Purpose: Osteoporosis and fractures are prevalent in orthotopic liver transplant (OLT) recipients but data on these skeletal complications are scarce in patients with end-stage liver disease awaiting liver transplantation. The aim of our study was to evaluate the prevalence of osteoporosis and vertebral fractures at screening for OLT, to determine risk factors for skeletal pathology and to evaluate the predictive value of BMD for fracture risk in these patients.<p class="a...

Fibrodysplasia ossificans progressiva (FOP) is a rare, extremely disabling genetic disorder characterized by progressive heterotopic ossification preceded by episodic inflammatory soft tissue swellings (flare ups) leading to early death. There is no proven effective treatment yet. We aimed to develop an in vitro system to investigate the working mechanism of flare ups induced ossification.Skin biopsies were obtained from four patients with FOP. ...

Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disorder characterized by progressive heterotopic ossification. FOP patients only present great toe malformations at birth. However, as they grow older they develop soft tissue lumps as a result of flare-ups causing the irreversible replacement of skeletal muscle tissue with bone tissue leading to cumulative physical immobility. Classical FOP patients possess a mutation (c.617G>A; R206H) in the activin recept...