Bone Abstracts

Introduction: Communication of absolute and relative risks is challenging despite the development of tools to quickly derive absolute fracture risk estimates from risk factors with or without BMD. We speculated that back-transformation of risks to a risk age could make for a clearer message and at the same time increase agreement between risk algorithms.Results: The algorithms differed less in estimated bone health age than in percent risk. A 60 years ol...

Introduction: FGF3-associated hypophosphatemic rickets (HR) is a rare disorder caused by excessive renal phosphate wasting. Patients may suffer from limb deformities and low turnover femoral fractures have been described. The aim of this study is to evaluate DXA derived hip geometry of adult HR patients using hip structure analysis (HSA).Materials and methods: Cross-sectional study of HR patients (n=21) at Odense University Hospital compared to ...

Hand X-rays from patients with hypophosphatemic rickets (HR) were assessed to evaluate if HR influences the dimensions of the metacarpal bones and the distribution between cortical and cancellous bone. In addition, we aimed to test the hypothesis that HR caused by mutation in DMP1 has a greater impact on bone dimensions than HR caused by mutations in PHEX.Hand X-rays from 17 children with HR were evaluated. Three children had HR caused ...

Although X-linked hypophosphatemic rickets (XLH) is characterized by hypophosphatemia leading to a generalized mineralization defect with rickets (and/or osteomalacia), densitometric studies point towards a tendency towards an elevated bone mineral density (BMD). The aim of this cross-sectional in vivo study was to assess bone geometry, volumetric BMD (vBMD), microarchitecture and estimated bone strength using high-resolution peripheral quantitative computed tomograph...

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...

Osteogenesis imperfecta (OI) is a systemic connective tissue caused by mutations in collagen type 1 related genes. Patients with OI suffer from multiple fractures and various degrees of growth deficiency and bone deformity. Other symptoms are early hearing loss, abnormal dental tissue and hypermobility. It is not known whether the systemic effect of a defect collagen type 1 influences the quality of life in people with OI. We aimed to investigate health related quality of life...

Osteogenesis imperfecta (OI) is a hereditary disease with a generalized involvement of the connective tissue caused by collagen type 1 mutations. The clinical appearance is broad with fractures as the key symptom. Only few genotype–phenotype correlations have been established. We aim to characterize the Danish OI population thoroughly including DXA and HRpQCT, anthropometry, patient history, and genetic background.This cross-sectional study includes...

The R-spondins are a family of four small, secreted agonists of the Wnt signaling pathway. Growing evidence from both in vitro studies and in vivo models supports the major role of these proteins in the skeletal development processes. In humans, common genetic variation in the RSPO3 gene has been associated with BMD in large scale GWAS study.This study aimed at further investigation of the genetic and functional contributions of the R-s...