Bone Abstracts

Objectives: To explore the benefits of a group circuit therapy programme for children with osteogenesis imperfecta (OI) who have been identified as having functional difficulties resulting from hypermobility, reduced muscle strength, poor cardiovascular (CV) fitness and lack of engagement in physical education.Methods: 16 families were contacted to ascertain interest and preference on frequency and location for a proposed therapy group. Subsequently ten ...

Background: Non-surgical hypoparathyroidism (NS-HypoPT) and pseudohypoparathyroidism (Ps-HypoPT) are both rare diseases, with a prevalence of 2/100.000 and 1/100.000, respectively.Studies on Quality of Life, QoL, are sparse, but studies have shown an increased risk of fatigue and depression.Methods: Using the Danish version of SF36v2 and WHO-5 Well Being Index, we investigated the physical and mental QoL among patients with NS-Hypo...

Objectives: Children with Perthes disease may present with altered walking patterns even at the healed stage of the disease. The aim of the study was to assess the walking endurance, fatiguability and gait changes of children with healed Perthes disease, and to determine if walking endurance is associated with hip function and quality of life.Methods: Fifty-one children (38 males) aged 8–16 years with >3 years post-diagnosis of Perthes disease c...

Background: Fibroblast growth factor 23 (FGF23) is a circulating phosphaturic hormone that also suppresses renal 1α-hydroxylase activity. In adult patients (pts) plasma FGF23 increases in early stages of chronic kidney disease (CKD), even before serum phosphorus changes. In a study of 984 adult renal transplant pts, higher FGF23 levels were independently associated with increased risk of all-cause mortality and allograft loss during 39 months follow-up2</sup...

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved treatment for pediatric-onset hypophosphatasia (HPP). We evaluated the safety profile of AA from the clinical trial program spanning pediatric and adult patients.Methods: Safety data were pooled from 4 open-label, multicenter studies in children aged ≤3 years (study 002/003 [NCT00744042/NCT01205152]; n=11) and ≤5 years (study 010-10 [NCT01176266]; <em...

Background: Pediatric hypoparathyroidism is an orphan disease. Conventional management combines native and active vitamin D, calcium supplementation and sometimes phosphate binders. The use of teriparatide has been reported both in adults (daily or bi-daily subcutaneous infusions) and in children (rather continuous subcutaneous infusion) as second-line therapy.Methods: We present as median (min-max) the results of a retrospective single-centre review of ...

Introduction: Fracture healing is impaired in aged and osteoporotic patients. Because bone formation is tightly regulated by the mechanical conditions in the fracture gap and because suitable mechanical stimuli improve fracture healing (Claes et al. 1998), we investigated whether low-magnitude high-frequency vibration (LMHFV; Rubin et al. 2004) is able to improve delayed fracture healing induced by age and ovariectomy in mice.Sudy desig...

Screening gene function in vivo is a powerful approach to discover novel drug targets in the human genome (Nat Rev Drug Discov 2 38–51, 2003). We present data for 3776 distinct gene knockout (KO) mouse lines with viable adult homozygous mice generated using both gene-trapping and homologous recombination technologies. Bone mass was determined from PIXImus DEXA scans of male and female mice at 14 weeks of age and by microCT analyses of bones from ...

Non-pharmacologic approaches to preserve or increase BMD include whole body vibration (WBV). A meta-analysis and one-year randomized trial concluded that WBV has no effect on BMD in older women; however, previous trials were relatively brief and did not include a sham control group. Therefore, we conducted the Vibration to Improve Bone in Elderly Subjects (‘VIBES’) trial, a randomized, sham-controlled trial of 10 min of daily WBV (0.3 g at 30 Hz) in seniors recruited...

Hypophosphatasia is a recessively inherited disorder with a wide phenotypic manifestation ranging from lethality in neonates to asymptomatic in adults. The severity of the phenotype is largely determined by the nature of the ALPL mutations. We describe a previously asymptomatic adult whose phenotype dramatically changed after he developed renal failure. A 50-year-old man was diagnosed with IgA nephropathy. At age 52 (eGFR 50 ml/min) he suffered his first metatarsal fr...