Bone Abstracts

Fibrodysplasia ossificans progressiva (FOP) is a rare, extremely disabling genetic disorder characterized by progressive heterotopic ossification preceded by episodic inflammatory soft tissue swellings (flare ups) leading to early death. There is no proven effective treatment yet. We aimed to develop an in vitro system to investigate the working mechanism of flare ups induced ossification.Skin biopsies were obtained from four patients with FOP. ...

Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disorder characterized by progressive heterotopic ossification. FOP patients only present great toe malformations at birth. However, as they grow older they develop soft tissue lumps as a result of flare-ups causing the irreversible replacement of skeletal muscle tissue with bone tissue leading to cumulative physical immobility. Classical FOP patients possess a mutation (c.617G>A; R206H) in the activin recept...

Background: Fibrodysplasia Ossificans Progressiva (FOP) is a progressive disease characterized by periods of heterotopic ossification, often in ligaments. The underlying mechanism is far from clear, partially due to limited access to patient-derived cell models. Periodontal ligament fibroblasts (PLF) from extracted teeth can potentially be used to study deviant bone remodelling processes in vitro since these cells are derived from actual ligaments. They further provid...

Biographical DetailsDr P Dimitri studied Medicine at the University of St Andrew’s in Scotland and the University of Manchester where he received a medal in pathology and a distinction in Paediatrics. In 2010 he was awarded a PhD in Medicine and the Michael Blacow Award from the Royal College of Paediatrics and Child Health for his work on the relationship of fat and bone in children...

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...

Fractures of long bone and ribs in the neonatal period may be expression of genetic disturbances of collagen type I production. The aim of the study was to present clinical symptoms, laboratory, radiological and densitometric data in 27 newborns with osteogenesis imperfecta type III.Methods: Medical history, clinical examination and radiographs of 27 children hospitalized in the Department of Paediatrics, Neonatal Pathology and Bone Metabolism Diseases w...

Child and adolescent obesity has reached epidemic proportions worldwide. The impact of excess fat on musculoskeletal health is of significant concern. Abnormal mechanical loading of the lower limbs in obese children may lead to anatomic alterations and an increased prevalence of slipped capital femoral epiphysis and tibia vara. Obese children are also over-represented in fracture groups and excess fat may result in low bone mass relative to body size, although this effect may ...

Background: In patients with osteogenesis imperfecta (OI), a rise in age-specific total body and regional bone mass is well recognised. In contrast changes in body size-adjusted bone mass in relation to changes in body composition following pamidronate therapy remain relatively unexplored.Methods: Changes in total and regional bone mass in relation to body composition in children with OI receiving pamidronate (3 mg/kg per day over 3 days, 3 monthly) were...

Background: Magnetic resonance imaging (MRI) is used clinically to assess bone marrow, muscle and joints. The assessment of cortical and trabecular structure using MRI may provide further insight into the muscle–bone–bone marrow unit. Previous studies using MRI to evaluate microarchitecture are confined to research due to the need for specially adapted coils and navigator software to limit motion artifact. We present a novel statistical method using HRpQCT to determi...

Objectives: The clinical assessment of bone mass in children with osteogenesis imperfecta (OI) is normally assessed by DXA. Further information about bone microarchitecture is obtained from bone biopsy which is invasive and requires anaesthetic. High-resolution peripheral quantitative computer tomography (HRpQCT) is an in-vivo imaging modality capable of assessing skeletal microstructure and integrity to a resolution of 80 μm. To date, no HRpQCT studies have incl...