Bone Abstracts

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...

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...

Introduction: The reported prevalence of secondary causes for osteoporosis in men and women aged ≥50 years with a fracture is 35–60%, but data on these causes are scarce in patients with osteopenia and fractures.Objective: To investigate whether secondary causes for osteoporosis are prevalent and may contribute to fracture risk in patients aged ≥50 years with osteopenia and a recent fracture.Materials and methods: ...

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...