Bone Abstracts

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...

Although the optimal requirement of vitamin D for skeletal health in the general community remains uncertain, vitamin D deficiency impairs bone mineralisation, increases bone turnover, accelerates bone loss and increases fracture risk. Seasonal variation in the hip fracture incidenc, reported in several studies, supports a role for vitamin D deficiency in the epidemiology of hip fracture. We hypothesised that if the association is causal, then the amplitude of the seasonal var...

The gap between osteoporosis clinical guidelines and their implementation exists in all countries. The increasing use of computerised patient records offers new opportunities to aide clinical decision making. We have developed a fracture and osteoporosis investigation and treatment clinical decision tool to aide primary care management of osteoporosis. Uniquely, this tool is designed to be integrated with existing patient data software.Electronic clinica...

Differences in fracture rates and bone mass in families and individuals of different ethnic origins may be due to differing lifestyles and/or genetic backgrounds. This study aimed to assess the associations of bone mass and fracture prevalence in adolescents with maternal bone mass and fracture history, and sibling fracture history.Data from 1389 adolescent-biological mother pairs from the Birth to Twenty (Bt20) longitudinal study were obtained. Question...

Objectives: While nutritional rickets is traditionally associated with vitamin D deficiency, a number of other etiological factors have been proposed, including low calcium intake. Maternal nutrition can affect fetal and infant skeletal growth and development. Our aim was to determine the relationship between maternal bone density and rickets in Nigerian children.Methods: We measured areal forearm bone mineral density (BMD) in 56 and 131 mothers of child...

Objectives: To examine the bone mineral density (BMD) response to i.v. pamidronate (Group 1) vs i.v. zoledronic acid (Group 2) in non-ambulatory children and young adults with severe cerebral palsy or other neuromuscular disorders.Methods: A total of 50 non-ambulatory children and young adults, (mean age 11.3 years, range 2.1–32) with low BMD and/or history of fractures were retrospectively studied. Thirty-nine patients (30 spastic quadriplegic cere...

Thyrotoxicosis results in osteoporosis, and thyroid hormone (T3) stimulates osteoclastic bone resorption by unknown mechanisms. We previously demonstrated that knockout mice lacking thyroid hormone receptor α (TRα0/0) are euthyroid but have high bone mass, whereas mice lacking TRβ (TRβ−/−) are thyrotoxic and osteoporotic. Tartrate resistant acid phosphatase (TRAcP) staining revealed osteoclast numbers were reduced by 13% (<...

Osteoclasts secrete acid and cathepsin K to dissolve the mineral and digest the organic matrix of bone, cartilage and dentine. The secretions are by necessity destructive and potentially harmful to the cell itself and are therefore trafficked through the cell in membrane bound vesicles. Secretion takes place over a specialised membrane compartment, the ruffled border, which is only present in resorbing osteoclasts. The ruffled border membrane and the vesicles in its vicinity h...

Objectives: i) To evaluate the bone mineral density (BMD), and clinical outcomes of intravenous bisphosphonate treatment (IVT) and after treatment discontinuation in children with osteogenesis imperfecta (OI). ii) To compare the clinical outcome of those who discontinued IVT and those who had progressed from IVT to maintenance oral bisphosphonate therapy.Methods: A retrospective study was conducted on 28 children with OI who had discontinued IVT (21 pami...

Objectives: Cyclical intravenous pamidronate (PAM) and zoledronic acid (ZOL) increases bone mineral density (BMD) and reduces fractures in children with osteogenesis imperfecta (OI). The aims of this study were to evaluate fracture and BMD outcomes after treatment discontinuation in children with OI treated with ZOL compared to PAM.Methods: 21 patients (mean age 5.1±3.8 years) received PAM (1 mg/kg per day x 3 days q 3 months for the first year). Se...