Bone Abstracts

Short stature and osteoporosis are common in DMD. Disease progression can be slowed by glucocorticoids but these are associated with further growth retardation and skeletal fragility. The defect in growth and skeletal development in children with DMD is probably multifactorial and not solely dependent on glucocorticoid exposure. The muscular dystrophy x-linked (mdx) mouse is the most commonly used animal model of DMD. However, its growth phenotype has not been studied...

Background: Osteoporosis is common in subjects with Duchenne muscular dystrophy (DMD). Studies in paediatric DMD identified a high frequency of fragility fractures but there are no studies in the adult population. Recent updated international standards of care (2018) for children and adults with DMD recommend the following for bone monitoring:- Lateral thoracolumbar spine x-rays to screen for vertebral fracture (1–2 yearly if on glucocorticoid; 2&#1...

Objective: Bone and muscle deficits are observed in patients with Crohn’s disease (CD). High-impact exercise (HIE), such as jumping based exercise, can provide hypertrophic and osteogenic stimulus, however to date there have been no studies of HIE in CD. This study aimed to assess the acceptability and feasibility of participating in HIE in adolescents and adults with CD.Methods: Two anonymous questionnaires surveyed adolescents and adults, respecti...

Mutations in the C-propeptide cleavage site of both COL1A1 and COL1A2 cause dominant high bone mass (HBM) osteogenesis imperfecta (OI), characterized by bone hypermineralization. To elucidate the role of C-propeptide processing in bone formation, we generated heterozygous HBM mice in which both residues of the COL1A1 cleavage site were mutated to prevent cleavage by BMP1. HBM mice are smaller than WT in both weight and length and have extremely brittle bones....

The c-Myb transcription factor is associated with proliferation of undifferentiated cells in number of tissues, but recent data suggests its role also in differentiation. c-Myb is important in formation of the cartilage, bone and apparently also in hard tissue mineralization (Matalova et al. 2011).Embryonic micromasses were established from mouse front limbs at the embryonic day E12. Micromass cultures represent an effective tool for experimenta...

Introduction: Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder characterized by bone fragility. OI type V, with autosomal dominant inheritance, is characterized by ossification of the forearm interosseus membrane, radiodense metaphyseal bands, propensity for hyperplastic callus formation, and mesh-like lamellation on bone histology. Type V OI probands are reported to have white sclerae and normal teeth. Recent reports identified the cause of type V OI as a ...

Background: The incidence and prevalence of gout have markedly increased over the last few decades in keeping with the rise in prevalence of obesity and metabolic syndrome. The management of gout in patients with associated metabolic syndrome and comorbid illnesses such as renal impairment was difficult because of limited treatment options. Recent efficacy and safety data favour lower over higher doses of colchicine, and oral corticosteroids over non-steroidal anti-inflammator...

In bone marrow, bone marrow stromal cells (BMSCs) have the capacity to differentiate into osteoblasts and adipocytes. Onset of osteoporosis with age stems in part from the enhanced bone marrow adipogenesis that represses osteogenesis. In this study, we demonstrate that disruption of nuclear factor I-C (NFI-C) impairs osteoblast differentiation and bone formation, and increases bone marrow adipocytes. Interestingly, NFI-C controls postnatal bone formation but does not influence...

Background: There is still limited information on changes in growth especially segmental growth and bone mass of glucocorticoid(GC) treated boys with Duchenne Muscular Dystrophy (DMD).Objectives: To evaluate changes in growth and bone mass in GC treated boys with DMD.Methods: Retrospective study of 15 boys with DMD treated with GC, median age 7.6 years (4.1, 15.5) who had repeated DXA scan for clinical monitoring of bone health, me...

C-C chemokine receptor 5 (CCR5) is a co-receptor of macrophage-tropic viruses including HIV. Epidemiological and pathological findings have reported that functional changes in CCR5 correlate with HIV transmission bone destruction disease. However, the roles of CCR5 in bone pathophysiology have not been well documented.Ccr5-deficient osteoclasts showed decreased bone resorption activity accompanied with disorganized cellular architecture and impa...