Bone Abstracts

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...

Background: Previous studies with small number of boys with Duchenne Muscular Dystrophy (DMD) suggest that growth failure occurs in glucocorticoid naïve (GC) boys.Objective: To evaluate height and longitudinal growth in boys with DMD prior to GC.Method: Retrospective evaluation in boys with DMD with height measurements obtained for clinical purposes. Out of the 91 boys currently managed in Scotland, 51 had at least one height ...

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...

Objectives: To describe the incidence of vertebral fractures in steroid-treated children.Methods: Fractures were assessed prospectively each year for 3 years according to the Genant semi-quantitative method. Proportions of children with incident fractures were determined annually over the study period. To examine associations with baseline clinical factors, the 3-year total number of incident fractures was analyzed using multivariable Poisson regression....

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...

Activation of p38 MAPK by RANKL is regulated by the scaffolding protein receptor for activated C-kinase 1 (RACK1) in osteoclast precursors, whereas it is unclear whether RACK1 can also affect in mature osteoclasts. In this study, to identify that the interaction of RACK1 with c-Src is essential for osteoclast function, we generated several mutants affecting the RACK1-c-Src association. A RACK1 mutant protein (mutations of tyrosine 228 and 246 residues to phenylalanine) disrupt...

Osteoporosis is a common skeletal disorder characterized by low bone mass leading to increased bone fragility and fracture susceptibility. Little is currently known about what specific factors stimulate osteoblast differentiation from human mesenchymal stem cells (hMSCs). Therefore, the aim for this project is to determine novel factors and mechanisms involved in human bone production which can be targeted to treat osteoporosis, using gene expression profiling and bioinformati...

Osteoporosis is a common skeletal disorder characterized by low bone mass leading to increased bone fragility and fracture susceptibility. Little is currently known about what specific factors stimulate osteoblast differentiation from human mesenchymal stem cells (hMSCs). Therefore, the aim for this project is to determine novel factors and mechanisms involved in human bone production which can be targeted to treat osteoporosis, using gene expression profiling and bioinformati...

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...

Introduction: Effective screening for vitamin D (Vit-D) insufficiency is desirable. Pigmentation of unexposed (constitutive) skin and exposed (facultative) skin can be measured with skin colourimetry to assess dermal capability in synthesizing Vit-D and degree of sunlight exposure respectively. This study aimed at evaluating whether skin colourimetry could be used to screen Vit-D insufficiency among adolescents.Methods: 240 healthy adolescents (mean age=...