Bone Abstracts

Objective: Linear growth is achieved by enchondral ossification in epiphyseal growth plates (GP) of long bones. These highly organized cartilaginous tissues contain chondrocytes of all differentiational stages classified in 3–5 specific zones. Due to their discrete characteristics, distinct analysis of each zone is essential in basic GP research. While the efficiency of zonal separation is therefore highly influencing on study results, comparative data on commonly used me...

Osteogenesis Imperfecta (OI) is a genetic disorder affecting 1 in 10,000 births with a wide variability in phenotypes. Clinical Manifestations include; recurrent fractures, bone pain, varying degrees of short stature and deformity, scoliosis, kyphosis, and respiratory failure in the severest types. Sleep disorders are under-acknowledged and are often more problematic in children with chronic illnesses. Moldosky1 identified the link between pain affecting quality of ...

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Recent GWAS have identified variants in the OPTN gene that predispose to Paget’s disease of Bone (PDB), a disease characterised by focal areas of increased bone turnover and enhanced osteoclast activity, suggesting a role for this gene in bone metabolism. The aim of this study was to investigate the role of OPTN in bone metabolism using a mouse model (OptnD477N/D477N) which harbours a D477N point mutation in the polyubiquitin binding ...

HLA-B27 transgenic rats, developed by inserting into rat genome the gene for HLA-B27, a human Class I major histocompatibility molecule involved in antigen presentation, spontaneously develop arthritis, ankylosing spondylitis, gastrointestinal inflammation, and severe alveolar bone loss, among other signs of a generalized inflammatory response. Clinical manifestations in these rats closely resemble features of HLA-B27–associated diseases in humans. More recently, investig...

A healthy 8-year-old girl of Nigerian origin, presented in January 2014 with a 2 month history of progressive pain and swelling of the right 2nd, 3rd and 4th toe. There was no preceding trauma or illness. Those toes were swollen, tender and cold to touch, with bluish skin discoloration (Figure 1).She had normal peripheral pulses. Her inflammatory markers were normal, as was haemoglobin electrophoresis. A Doppler ultrasoun...

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is an auto-inflammatory bone disorder that has been difficult to diagnose in the past. Diagnosis used to depend on bone biopsy but can now be made with whole-body MRI scan.Presenting problem: A 9-year-old healthy girl had a 2-year history of pain, swelling, redness and heat in her right foot following a fall from bars in the park. She had an X-ray of her foot on the day of injury which was rep...

Background: Systemic alterations in Runx2 expression have been shown to affect flat and long bone formation differently: Inactivating mutations cause low-turnover bone disease and patent fontanels in cleidocranial dysplasia, while overexpressing mutations cause metaphyseal dysplasia with maxillary hypoplasia and brachydactyly. The two conditions have inverse skeletal phenotypes. We know of no descriptions of these disorders in a patient without duplications or mutations of Run...

Objectives: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. This pilot study aims to apply novel imaging techniques to asses the musculoskeletal phenotype of XLH patients by bidirectional axial transmission (BDAT) ultrasound, magnetic resonance spectroscopy (MRS) and high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: BDAT bone ultrasound of the radius and...

Objectives: The present study aims to evaluate the longitudinal association of fat mass (FM), fat free mass (FFM) with bone stiffness index (BSI) in European children and adolescents over 2 and 6 years follow-up. METHODS: We included children of the IDEFICS/I. Family cohort, who participated in repeated measurements of BSI using calcaneal quantitative ultrasound (QUS), body composition using skinfold thickness, sedentary behaviours (SB) and physical activity (PA) using self-ad...