Bone Abstracts

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It is a variable condition with a range of clinical severity. About 90% of patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes, which shows an autosomal dominant pattern (AD) of inheritance. Other genes are associated with the autosomal recessive (AR) ...

Cases of non-vitamin D deficiency rickets have been reported in African countries including The Gambia, South Africa and Nigeria where the likely aetiology is a chronically low dietary calcium intake. Additional aetiological factors in Gambian studies are iron deficiency leading to a disruption in phosphate metabolism.Surgical correction of pathological rickets-like lower-limb deformities is the most common operation performed at the Beit Cure Orthopaedi...

Objectives: Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional spinal deformity associated with low bone mass. Our previous clinical trial demonstrated the anabolic bone effect of vibration treatment (VT) at the femoral neck in AIS subjects. The therapeutic effect was more pronounced in those with optimal serum 25(OH) Vit-D level (>40 nmol/l). To investigate possible factor interaction between Vit-D and VT on their anabolic bone effects, this in-vitro...

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, immobilization, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone mineral density in...

Background: Higher BMI values are associated with greater bone mineral density (BMD) resulting in a site-specific protective effect for fragility fractures. However, pathophysiologic influence of central adiposity on bone quality may oppose the seemingly positive influence of a greater mechanical loading with higher body masses. The objective of our study was to evaluate the impact of visceral fat on trabecular bone microarchitecture in postmenopausal obese women.<p class=...

Background: Peroxisomal Biogenesis Disorders (PBD) is a group of rare metabolic diseases in which peroxisomal function is disrupted. PBD encompasses Zellweger Syndrome Spectrum (ZSS) disorders, which range in severity from classical ZS with severe neurological impairment and markedly reduced life expectancy to Refsum Disease presenting later in childhood. Recent fragility fractures in our ZSS patients in very early childhood prompted case series review.P...

Introduction: Lower bone mineral content (BMC) has been reported in HIV-infected children, as well as those on ritonavir-boosted lopinavir (LPV/r)-based antiretroviral therapy (ART). Older studies of children with HIV report increased bone resorption, but data with current antiretroviral regimens are limited.Methods: This analysis presents data from the CHANGES Bone Study (Johannesburg, South Africa). Whole body (WB) BMC was assessed by dual-energy X-ray...

Objectives: Research studies confirm that children with osteogenesis imperfecta (OI) benefit from co-ordinated multidisciplinary services to optimise outcomes and reduce morbidity and mortality. Implementation of a tertiary paediatric centre of excellence within the Republic of Ireland is contentious due to the absence of data on the prevalence, service needs and medical requirements of these patients.Methods: A retrospective chart review of all patients...

Background: Denosumab (DMAB) is used in adults for the treatment of osteoporosis, giant cell tumour of bone, and cancer metastases. There are little data on paediatric use with clinical decision making reliant on adult data and clinical experience.Presenting problem: We have treated 33 children with DMAB: Perthes disease (n=9), avascular necrosis (n=17), osteoporosis (n=1), aneurysmal bone cyst (n=4) and giant cell tum...

Objectives: To make a prediction model for septic arthritis on the basis to analyze CRP versus CD64 on neutrophils (nCD64) as an adjunct parameter to Kocher’s criteria to differentiate septic arthritis from transient synovitis.Methods: In this open ended prospective study, children (n=34) below 18 years of either gender (M=22/F=12) below 18 years presenting with acute, new onset, non – traumatic limp or joint pain were enrolled as case...