Bone Abstracts

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...

Intravenous (IV) Pamidronate (PAM) has been used in the treatment of Osteogenesis Imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent IV Zoledronic acid (ZOL).Objectives: To determine the clinical efficacy of IV PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Methods: A retrospec...

Introduction: Since the definition of osteoporosis in children changed following the revised ISCD guidelines of 2013, the presence of vertebral fractures has become more clinically important, in particular since vertebral fractures may occur despite apparently normal bone density (www.iscd.org). Although the detection of vertebral fractures in children is still largely dependent on lateral spine x-rays, the introduction of new higher resolutio...

Osteosarcoma (OS) is an aggressive malignancy characterized by a high relapse rate despite multiagent chemotherapy. As for other cancers, OS microenvironment contributes to tumor initiation, growth, and metastasis. We consider bone marrow mesenchymal stromal cells (MSC) as a major nontumor component of OS microenvironment, and have previously found that the interaction between MSC and tumor cells is bidirectional, i.e. tumor cells can modulate their peripheral environment that...

Molecularly characterized epigenetic networks that control bone formation and are altered during aging are necessary to uncover new potential targets for osteoanabolic therapy. Our contribution to the iBONE consortium is to identify osteoanabolic epigenomic regulators by screening which are involved in osteoblast phenotype and differentiation. This study will be done by a 3 step approach including: siRNA screening for epigenomic regulators of osteoblastic differentiation and v...

Objectives: The SNAP study is a prospective fracture study of children with chronic inflammatory and/or disabling conditions. The overall study aim is to assess causal links between body-size adjusted bone density and low trauma fracture.Methods: 330 children aged 5–18 years were recruited from seven disease groups namely; acute lymphoblastic leukaemia (ALL), rheumatological disease, inflammatory bowel disease, cystic fibrosis, coeliac disease, Duch...

Objectives: Current guidelines recommend annual assessments of bone densitometry in boys with Duchenne muscular dystrophy (DMD). However, this recommendation is based on the assumption that bone density is a predictor of fractures in this patient group. The aim of this study was to evaluate the relationships between long-term changes in bone density, corticosteroid exposure and mobility with vertebral and long bone fractures.Methods: Twenty-four DMD boys...

Hypophosphatasia (HPP) is a rare genetic disease characterised by low tissue-nonspecific alkaline phosphatase activity, causing defective mineralisation of bone and teeth. There is limited data on the measurement of bone mineral density (BMD) and body composition in these children.Objectives: To assess whether BMD and lean body mass (LBM) in treatment naïve children with HPP correlate with functional outcomes using the 6-minute walk test (6MWT)....

The identification of markers indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: Identify key cranio-cervical junction neuroradiological features for the surgical choice and for the decompression outcome.Methods: Out of 191 ACH patients, we selected 24 patients before 4 years of age, who performed a first brain MRI and/or CT. Patients were divided into 2 groups: surgically treated ...

Bisphosphonates are used to treat bone disease characterised by increased bone resorption by inhibiting the activity of mature osteoclasts, resulting in decreased bone turnover. Bisphosphonates may reduce the population of osteoclast precursor cells (OPCs). Our aims were to investigate the effect of bisphosphonates on i) OPCs and ii) bone turnover in postmenopausal women with osteoporosis compared with healthy premenopausal women. Participants were 62 postmenopausal women (mea...