Bone Abstracts

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility. The current classification comprises five forms (OI types I–V) with autosomal dominant inheritance and seven rarer forms (OI types VI–XII) with recessive inheritance. OI type V (MIM 610967) has distinguishing radiological features, such as propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocatio...

Prolyl hydroxylase 2 (PHD2) regulates hypoxia-inducible factor α (HIFα) transcription factors and thus, erythropoietin (EPO) production. Under normoxic conditions, HIFα is constantly inactivated through hydroxylation by PHD2. Due to the embryonic lethality of PHD2 knock-out mice, its precise role in erythropoiesis and tissue homeostasis has long remained unknown. Recently, we generated a conditional knock-out (cKO) mouse lacking PHD2 in EPO-producing cells. Thes...

Proteoglycans is a component of extracellular matrix, forming a mesh around structural proteins including collagen and elastin, and providing elasticity to tissue structure. Proteoglycans is formed by the attachment of glycosaminoglycans to a core protein, a process that requires three enzymes: galactosyltransferase-1, galactosyltransferase-2 and glucoronosyltransferase-1, encoded by B4GALT7, B3GALT6 and B3GAT3 respectively. B3GALT6 mutation...

Objective: Over the last decade, there has been increasing scientific interest in vitamin D, and it is now advised that all pregnant women and infants should receive vitamin D supplementation. Despite of this, it is recognized that knowledge of vitamin D in the general public is limited. The internet is now an important source of health care information and analysis of internet search activity rates can provide information on disease epidemiology, health related behaviors and ...

Objective: Public Health England recommends that children in the United Kingdom (UK) aged over 1 year should take a vitamin D supplement containing 400 IU/day. Commercially available children’s multivitamin and vitamin D supplements were surveyed to determine the vitamin D content.Methods: Multivitamins and vitamin D supplements marketed at children <12 years and sold by nine UK supermarkets and health supplement retailers were surveyed. The vit...

Background: Addressing the needs of a child with Severe, Complex or Atypical Osteogenesis Imperfecta (SCAOI) requires a full MDT approach to enable the child to access their environment and meet their true potential. MDT input is essential in ensuring the delivery of medicine, participation in meaningful activity and supporting of the functioning of the child and family in complex systems.Presenting problem: Osteogenesis Imperfecta (OI) impacts upon all ...

Milk fat globule-epidermal growth factor 8 (MFG-E8) is a glycoprotein that controls the engulfment of apoptotic cells and exerts anti-inflammatory effects. It has been implicated in the pathogenesis of several diseases, but its role in the bone microenvironment is still unknown. Here we tested the hypothesis that MFG-E8 also regulates bone metabolism and the development of arthritis.MFG-E8 expression was detected in mouse bones and primary murine osteobl...

We have reported femoral osteopenia in short term-vitamin D restricted rats without deterioration in tibial cortical bone volume (CBV), geometry or strength1. This study aimed to establish the effect of extended vitamin D deficiency in aged rat tibial volume and strength. Female Sprague-Dawley rats (9 m, n=6/group) were fed a diet containing varying vitamin D3 (D) levels (0, 2, 12, and 20 IU/day) with either low (0.1%, LCa) or high (1%, HCa) diet...

Objectives: An increased fracture risk is reported in children requiring recurrent courses of glucocorticoids. Reduced bone mineral density (BMD), particularly in the trabecular compartment, has also been demonstrated in a number of childhood diseases treated with glucocorticoids. The differential contribution of glucocorticoids and underlying inflammatory disease to bone demineralisation is poorly understood. Childhood nephrotic syndrome (NS) often follows a relapsing-remitti...

Turner syndrome (TS) is known to be associated with increased risk of osteoporosis and fracture. Childhood treatment with GH has been considered standard of care for treatment of growth failure in TS, while the influence of GH on bone health has been poorly understood. The purpose of this study is to assess the influence of GH on bone microarchitecture on a cohort of TS subjects.TS subjects aged 16–45 were included. Bone mineral density (BMD) was as...