Bone Abstracts

Although Vitamin D deficiency is the most common form of rickets worldwide, when there is a failure to respond to cholecalciferol, inborn errors of vitamin D metabolism should be considered. We describe two unrelated individuals who presented with early onset rickets characterised by reduced serum levels of 25(OH)D and 1,25(OH)2D, and a deficient response to Vitamin D2/D3 and calcitriol. Case 1: A Caucasian Australian girl with non-consanguineous parents ...

Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.Methods: Data from 101 subjects (recruited from 2...

Objectives: Soft tissues, such as fat mass (FM) and lean mass (LM), play an important role in bone development but this is poorly understood in highly active youths. The objective of this study was to determine whether FM or LM is a stronger predictor of areal bone mineral density (aBMD) and hip geometry estimates in a group of physically active boys after adjusting for height, chronological age, moderate-to-vigorous physical activity (MVPA), FM, and LM....

Introduction: ENPP1 Deficiency manifests as GACI type 1 in infants, a disorder characterized by extensive arterial calcifications and stenoses, often fatal in utero or in early infancy. Beyond six months, the mortality rate significantly decreases among survivors, who may later develop ARHR2, characterized clinically by short stature, bone deformities and pain. ABCC6 Deficiency also manifests as GACI type 2 in infants and is clinically indistinguishable from GACI type 1. Anima...

Objective: FOP is a rare, severely disabling disease characterized by episodic flare-ups and accumulation of heterotopic ossification (HO) leading to restricted movement, physical disability, and early death. Data from two Phase 2 interventional studies and one natural history study (NHS) were used to evaluate whether palovarotene could reduce HO following an FOP flare-up.Methods: HO volume at the flare-up site was determined by CT at baseline and 12 wee...

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...

Introduction: Bioelectrical impendance analysis (BIA) and dual enargy X-ray absorptiometry (DXA) are two most common methods used for body composition analysis. The aim of this study was to investigate: i) if there is a correlation between body mineral content (BMC) determined by BIA and by DXA for bone mineral content (BMC) and ii) correlation of BMC (BIA) vs bone mineral density (BMD) of L1–L4 spine, dual femur total mean and neck mean.Methods: Tw...

Aim: To assess the relationships of serum osteoprotegerin (OPG), receptor-activator of nuclear factor-κB ligand (RANKL) and tumor necrosis factor-alpha (TNF-α) superfamily with bone composition in end-stage COPD.Methods: Body and bone composition, serum OPG, RANKL, TNF-α and its receptors (sTNFR I, sTNFR II), TNF-related apoptosis-inducing ligand (sTRAIL) levels were measured in 48 men end-stage COPD accepted for lung transplantation, and ...

Aim: To assess the relationships of serum osteoprotegerin (OPG), receptor-activator of nuclear factor-κB ligand (RANKL) and tumor necrosis factor-alpha (TNF-α) superfamily with bone composition in end-stage COPD.Methods: Body and bone composition, serum OPG, RANKL, TNF-α and its receptors (sTNFR I, sTNFR II), TNF-related apoptosis-inducing ligand (sTRAIL) levels were measured in 48 men end-stage COPD accepted for lung transplantation, and ...

DMAb increases BMD and reduces bone resorption and risk of vertebral, nonvertebral and hip fractures in women with PMO. Transiliac crest bone biopsies in 47 subjects treated with DMAb for 1–3 years showed reduced bone turnover vs 45 Pbo-treated subjects, which reversed on treatment cessation. Since bone turnover reduction is sustained and fracture incidence low over 6 years’ DMAb treatment, we evaluated DMAb’s effects on tissue-level remodelling in the FREEDOM E...