Bone Abstracts

Biographical DetailsCecilia GötherströmCecilia Götherström is Associate Professor in Stem Cell Research at Karolinska Institutet and her research is in the field of perinatal regenerative medicine. She was one of the first in the world to isolate and characterize human fetal mesenchymal stem cells. Dr Götherström has de...

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

Objectives: We sought to identify the disease-causing mutations in two unrelated girls with a clinical diagnosis of osteogenesis imperfecta type IV.Methods: Whole-exome sequencing and cellular studies in skin fibroblasts were conducted.Results: We identified two homozygous variants in SPARC (NM_003118.3; c.497G>A (p.Arg166His) in individual 1; c.787G>A (p.Glu263Lys) in individual 2). Secreted protein, acidic, cyste...

Background and aims: Bone and joint infections like osteomyelitis and septic arthritis occur in ~3–12/100.000 children per year in high-income countries with predominance in males. The most common causative pathogen is Staphylococcus aureus, however, only in 50% pathogen detection succeeds. The aim of this study is to describe clinical characteristics of osteomyelitis and septic arthritis in children recruited within the EUCLIDS network (<a href="http://www.eucli...

Biographical DetailsLeanne WardDr Leanne Ward is an Associate Professor of Pediatrics at the University of Ottawa where she has held a Research Chair in Pediatric Bone Health since 2010. She is the Medical Director of the Pediatric Bone Health Clinical and Research Programs at the Children’s Hospital of Eastern Ontario. Dr Ward’s research ...

Pediatric inflammatory diseases are associated with low bone mass and fractures during childhood. In conditions such as inflammatory bowel disease and systemic lupus erythematosus, glucocorticoid therapy, and pro-inflammatory cytokines are key factors that impair bone accrual through specific effects on osteoblasts, osteoclasts, and osteocytes. Other factors may contribute to suboptimal skeletal maturation, including malnutrition, pubertal delay, low muscle mass, and physical ...

Biographical DetailsDr Steven Boyd holds a PhD in Mechanical Engineering, specialized in Biomedical Engineering. He was appointed as a faculty member at the University of Calgary in 2002, and is now a Professor in the Faculty of Medicine (Radiology), and jointly appointed at the Schulich School of Engineering (Mechanical Engineering) and Faculty of Kinesiology. He is a principal investiga...

Introduction: Current Canadian clinical practice guidelines recommend the FRAX or Canadian Association of Radiologists and Osteoporosis Canada (CAROC) fracture risk assessment tools to report 10-year fracture risk in an individual. CAROC considers sex, age, BMD and previous fracture as risk factors. It is unknown whether one reporting system is more effective in helping general practitioners (GPs) identify individuals who should be recommended for pharmacological treatment. We...

Biographical DetailsFrank RauchFrank Rauch, MD, is a Professor of Pediatrics and clinician-scientist at the Shriners Hospital for Children and at McGill University. His clinical activities and research program concentrate on improving bone health in children, with a special focus on genetic conditions leading to fractures and on the role of the musc...

Objectives: Two important goals of the Rare Diseases Clinical Research Network Brittle Bone Disorders Consortium (RDCRN BBD) are i) to perform collaborative clinical research in brittle bone disorders including a longitudinal observational study driven by genotypic association and ii) to explore use of the PROMIS tool to provide valid quality of life (QOL) measures in individuals with Osteogenesis Imperfecta (OI). This work has been motivated by the fact that all current outco...