Bone Abstracts

Osteogenesis imperfecta (OI) is a heritable bone dysplasia with collagen-related defects. Dominantly inherited OI is caused by structural defects in type I collagen or IFITM5, while recessive forms are caused by deficiency of proteins that interact with collagen for modification, folding or cross-linking. We have identified the first X-linked form of OI, caused by a defect in regulated intramembrane proteolysis (RIP). One type of RIP involves sequential cleavage of regulatory ...

Objectives: Cross-sectional studies show that exercise may have positive effects on bone outcomes in youth. However, there is no evidence from longitudinal studies, which type of sports can induce improvements in bone acquisition in adolescent athletes. Therefore, this study aimed to investigate the longitudinal differences in bone acquisition and bone metabolism between adolescent males participating in osteogenic (football) and non-osteogenic (swimming, cycling) sports compa...

Background and aims: Bone and joint infections like osteomyelitis and septic arthritis occur in ~3–12/100.000 children per year in high-income countries with predominance in males. The most common causative pathogen is Staphylococcus aureus, however, only in 50% pathogen detection succeeds. The aim of this study is to describe clinical characteristics of osteomyelitis and septic arthritis in children recruited within the EUCLIDS network (<a href="http://www.eucli...

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 ...

Objectives: Clinicians practicing in long-term care (LTC) face unique challenges caring for frail elderly individuals including multiple co-morbidities, polypharmacy, and end of life care, and practice guidelines typically do not address this population. Guidance regarding the management of osteoporosis and fracture prevention in LTC, a high-risk population, is needed.Materials and methods: A survey of LTC physicians informed key questions and outcomes, ...

Introduction: Osteoporosis is a common complication in patients with chronic cholestasis, usually characterized by reduced bone formation. Ursodeoxycholic acid (UDCA) improves differentiation and mineralization and counteracts the damaging effects of bilirubin and lithocholic acid (LCA) in osteoblastic cells. Moreover, UDCA decreases apoptosis in a number of cell lines, but this antiapoptotic effect has not been investigated in bone cells.Aims: To assess...

Low bone formation is considered to be the main feature in osteoporosis associated with cholestatic and end-stage liver diseases. Previous studies have demonstrated the deleterious consequences of retained substances such as lithocholic acid (LCA) and bilirubin (Bil) on osteoblastic cells. These effects are neutralized by ursodeoxycholic acid (UDCA). To gain new insights into cholestatic-induced osteoporosis, we have assessed the differential gene expression of osteoblastic ce...

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...