Bone Abstracts

Biographical DetailsM Kassim JavaidAfter completing medical training at Charing Cross and Westminster Medical School, I specialized in adult rheumatology at the Wessex Deanery. During that time, I completed a PhD examining the maternal determinants of intra-uterine bone growth as part of an ARC Clinical Fellowship at the University of Southampton fo...

Biographical DetailsSogol Mostoufi-MoabI am an Assistant Professor of Pediatrics at the Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, and board certified in pediatric oncology and endocrinology. I have advanced epidemiology training and my research program is focused on bone, body composit...

Biographical DetailsAfter completing medical training at Charing Cross and Westminster Medical School, I specialized in adult rheumatology at the Wessex Deanery. During that time, I completed a PhD examining the maternal determinants of intra-uterine bone growth as part of an ARC Clinical Fellowship at the University of Southampton. In my last year of clinical training, I was fortunate to...

Background: Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by bone fragility and osteopaenia, with a broad spectrum of clinical severity. The majority of cases are dominantly inherited and due to mutations in type I collagen genes, whereas recessive forms are less frequent and attributable to mutations in different genes involved in collagen I post translational modifications and folding (prolyl-3-hydroxylase complex, SERPINH1, FKBP1...

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...

Introduction: Cathepsin K is necessary for bone matrix resorption. Excessive resorption associated with osteoporosis and osteoarthritis can be reduced by cathepsin K inhibition. MIV-711, a highly selective cathepsin K inhibitor, successfully attenuates both bone resorption and cartilage degradation in non-clinical studies.Aim: To determine safety, tolerability, pharmacokinetics and pharmacodynamics of MIV-711 during multiple oral dosing to postmenopausal...

Aim: To determine the safety, tolerability, pharmacokinetics and pharmacodynamics of the cathepsin K inhibitor MIV-711.Methods: A double-blind, placebo-controlled, randomized study in 27 healthy subjects of both genders. Single ascending doses 20–600 mg were investigated for adverse events, clinical chemistry, vital signs, ECG parameters, pharmacokinetics, and serum levels of CTX-I.Results: MIV-711 was well tolerated with no a...

Osteogenesis imperfecta (OI) is a genetic disorder, leading to fragility of the bones. The clinical variability is extreme, ranging from relatively mild to perinatally lethal. Secondary features such as short stature, blue sclerae, dentinogenesis imperfecta and hearing loss may also exist in affected individuals. OI is most often caused by mutations in the collagen type I genes COL1A1 and COL1A2, that show a dominant mode of inheritance. The least severe OI c...

Objectives: Prospective case-controlled study assessing whether the incidence of loosening of implants in patients undergoing Total Knee Arthroplasty (TKA) is higher among those with Secondary Hyperparathyroidism (SP) at the time of index operation.Material and methods: Caucasian female patients with knee osteoarthritis who underwent TKA between November 2004 and March 2007 were enrolled. Exclusion criteria: endocrinopathies, rheumatoid or secondary arth...

Background and objectives: Fracture rate in Osteogenesis Imperfecta (OI) is highest between 0 and 19 years, and associated radiation exposure also carries the highest lifetime cancer risk. Here, we investigate the cumulative effective radiation dose (E) and lifetime cancer risk from diagnostic imaging in OI children. We also explore the hypothesis that negative family history of OI will increase injury-related, fracture-negative X-rays due to parental anxiety.<p class="abs...