Bone Abstracts

Objectives: We recently identified a heterozygous missense mutation c.652T→G (p. C218G) in WNT1 as the cause of severe primary osteoporosis (Laine et al. New Engl J Med 2013). The mutated WNT1 reduces activation of the canonical WNT1/β-catenin-signaling, resulting in decreased osteoblastic function. The mutation was originally identified in a large Finnish family presenting with dominantly inherited, early-onset osteoporosis, with affected...

Background: Prader Willi syndrome (PWS) is a genetic disorder characterized by severe hypotonia in infancy, hypogonadism, dysmorphic features, early onset obesity and mild mental retardation.Although hip dysplasia occurs in 10–20% in patients with PWS, hip dislocation requiring surgery is seen rarely. To our knowledge, surgical treatment of hip dislocation in PWS has not been reported before.We present a case with PWS and hip ...

Introduction: Vascularised fibula autograft combined with a massive bone allograft (Capanna 2007) is used in skeletal reconstructions in children. If vascularisation is successful a clear remodelling of the reconstruction can be observed. This study aims to define a protocol to characterise bone’s structural evolution in skeletal reconstructions through a computer-aided analysis, and attempts a biomechanical interpretation of the observed phenomena through a multiscale mo...

Calcium supplements are associated with increased cardiovascular risk, but the mechanism by which this occurs is presently uncertain. In a secondary analysis of a trial examining the acute effects of calcium supplements, we found that blood pressure declined over 8 h in the control group, consistent with its diurnal rhythm, and that this decline was smaller in the calcium group [1]. To investigate these effects further, we carried out a randomised controlled cross-over trial o...

Paget’s disease of bone (PDB) is a common disorder of bone metabolism characterized by focal areas of excessive and rapid bone resorption and formation, leading to bone pain, deformity and fractures. Despite the well documented increase in the risk of primary bone tumors due to neoplastic degeneration of pagetic tissue, a large retrospective analysis suggested that patients with prostate cancer and PDB have delayed time to bone metastases and improved overall survival tha...

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...