Bone Abstracts

Objectives: A heterozygous missense mutation p. C218G in WNT1 was recently identified as the cause of severe primary osteoporosis (Laine et al., New engl J Med 2013). The mutation has thus far been identified in two large Finnish families presenting with dominantly inherited, early-onset osteoporosis, with affected adult patients showing reduced bone mineral density (BMD), vertebral compression fractures, kyphosis and height loss. This study examined characte...

Due to its huge socio-economic impact a better understating of osteoporotic fracture healing is crucial.Thirty-one female merino land sheep were randomly divided into four groups. (i) Untreated control-group (C, n=8); (ii) bilateral ovariectomy (OVX, n=7); (iii) OVX and calcium-deficient diet (OVXD, n=8); and (iv) OVXD and additional biweekly corticosteroid injections (OVXDS, n=8). Drill-hole defects (7.5 mm in diamete...

Objective: The significance of low alkaline phosphatase (ALP) is often not recognised by clinicians. It is the hallmark of hypophosphatasia and this oversight leads to delays in diagnosis, inappropriate treatment and potentially harm. Using the standard that an abnormal result should be recognised by the clinician and the potential cause and need for further investigation documented in the medical records we conducted an audit of our practice at the Royal National Orthopaedic ...

Background: We present a case of unusual delayed multi-systemic reaction, following treatment with Pamidronate. The reaction, resembling rhabdomyolysis, requiring intensive care support, has not been reported previously to our knowledge.Presenting problem: An 11 month old boy with severe osteogenesis imperfecta (OI) presented with hyperpyrexia and respiratory distress 10 days after his fifth cycle of Pamidronate. He had significant derangement of his bio...

Background: Hypophosphatasia (HPP) is a heterogeneous rare, inherited disorder of bone and mineral metabolism caused by different mutations in the ALPL gene encoding the isoenzyme, tissue-nonspecific alkaline phosphatase (TNAP). Prognosis is very poor in severe perinatal forms with most patients dying from pulmonary complications of their skeletal disease. TNAP, a ubiquitous enzyme, is mostly known for its role in bone mineralization. TNAP deficiency, however, may als...

Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...

We examined the influence of objectively measured moderate-to-vigorous physical activity (MVPA) and vigorous PA (VPA) and sedentary time (SED) on bone strength, structure and density in post-pubertal girls.We had 63 healthy girls (15.3±0.3 years) from the Health Promoting Secondary Schools (HPSS) study with valid accelerometry data and tibia scans. We assessed the left tibia using peripheral quantitative computed tomography (pQCT, XCT 3000, Stratec)...

Skeletal development during childhood and adolescence is an important determinant of adult bone health. Patterns of growth differ between populations, but it is unclear how these differences relate to changes in bone size and volumetric density. We aimed to examine ethnic differences in skeletal phenotype in the context of pubertal growth and development in 279 adolescent males from Johannesburg, South Africa.We performed annual peripheral quantitative c...

Background: Higher BMI values are associated with greater bone mineral density (BMD) resulting in a site-specific protective effect for fragility fractures. However, pathophysiologic influence of central adiposity on bone quality may oppose the seemingly positive influence of a greater mechanical loading with higher body masses. The objective of our study was to evaluate the impact of visceral fat on trabecular bone microarchitecture in postmenopausal obese women.<p class=...

We have previously shown a high prevalence of vitamin D inadequacy (serum 25-hydroxyvitamin D (S25(OH)D) <50 nmol/l) in adolescents (14–18 years) in the UK (51°N)(1). It is well recognised that vitamin D deficiency (S25(OH)D <25 nmol/l) increases the risk of rickets and impaired growth in adolescents, however the optimal vitamin D status for bone health is debated. The aim of this study was to investigate the effects of vitamin D status on bone hea...