Bone Abstracts

Objectives: Low bone mass in adolescent idiopathic scoliosis (AIS) has been well reported, however the etiologies of the disease and this abnormal phenotype were still unknown. Leptin have profound effects on bone metabolism and skeletal growth, and was speculated to play a role in the etiopathogenesis of AIS. The objective of this study was to investigate the bone quality in AIS and its association with leptin and soluble leptin receptor (sOB-R).Methods...

Objectives: Osteonecrosis (ON) and decline of bone mineral density (BMD) are serious side effects during and after treatment of childhood acute lymphoblastic leukemia (ALL). It is unknown whether ON and low BMD co-occur in the same patients, and whether these two osteogenic side-effects can mutually influence each other’s development.Methods: BMD and the incidence of symptomatic ON were prospectively assessed in a national cohort of 466 patients wit...

Objective: Grip strength is a marker of muscle mass which can optimize bone strength during puberty. While previous studies have shown AIS girls had poor bone qualities and mechanical properties when compared with non-AIS girls, the correlation between bone qualities and handgrip strength in AIS remains undefined. This study aimed to investigate the correlation between handgrip strength and bone qualities including volumetric bone mineral density (vBMD), bone geometry, trabecu...

see PP277....

The aims of this study were to establish the prevalence of the high bone mass (HBM) phenotype in a cohort of Spanish postmenapausal women (BARCOS); to determine whether any of the HBM cases carry LRP5 or DKK1 mutations; to test the hypothesis of an inverse correlation between the number of common variant risk alleles and HBM; and to characterize the expression of osteoblast-specific and Wnt pathway genes in primary osteoblast RNA samples from two HBM cases.</...

Low bone mineral density (BMD) is an important and modifiable risk factor for fracture in postmenopausal women with osteoporosis. Denosumab (DMAb) shows a stronger relationship between BMD increases and antifracture efficacy than oral bisphosphonate (BP) therapies. Subjects who remain at higher risk of fracture despite current BP therapy need treatment. In two studies, DMAb significantly increased BMD and decreased bone turnover markers vs a BP (ibandronate (IBN) or risedronat...

Heritability of bone mineral density (BMD) varies at skeletal sites, possibly reflecting different relative contributions of environmental and genetic influences. To quantify shared genetic influences across different sites, we estimated the genetic correlation of BMD at the upper limb (UL), lower limb (LL) and skull (S) obtained from whole body DXA scans, using bivariate genome-wide complex trait analysis (GCTA). The study (n=9395) combined data from the Avon Longitu...

Objectives: Type 2 diabetes mellitus (T2DM) is associated to an higher risk of fractures despite a normal or increased bone mineral density measured by dual-energy X-ray absorptiometry (DXA).The purpose of this 3-years longitudinal study was to assess the changes of quantitative ultrasound (QUS) parameters in a group of postmenopausal women with T2DM and in healthy controls.Materials and method: The analyses were performed on a gro...

Background: Lean and bone mass are heritable traits with high phenotypic correlation (rho=0.44), likely reflecting the underlying mechanical and biochemical interactions between tissues.Aim: Estimate the shared heritability (genetic correlation) of both traits in children and identify genetic determinants displaying pleiotropic effects on lean mass and bone mass accrual.Methods: Participants make part of two prospective po...

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...