Bone Abstracts

Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive disorder characterised by congenital or juvenile-onset blindness, severe juvenile-onset osteoporosis, and skeletal fragility. OPPGS is caused by loss-of-function mutations in the LRP5 gene, a member of the LDL receptor family. It activates the canonical Wnt/β-catenin pathway, regulating osteoblastic bone formation. We investigated a 40-year-old Caucasian male presenting with congenital blind...

Postmenopausal women with forearm fracture have higher cortical porosity and lower trabecular density perhaps due to excessive age-related bone loss1. Remodelling becomes unbalanced and rapid only after ~45 years of age. We therefore proposed that bone fragility in premenopausal women with a forearm fracture originates during growth. At metaphyses, trabeculae emerging from the periphery of the growth plate form cortex by ‘corticalization’)2. We ...

We have shown that the bisphosphonate pamidronate (P) given to children <10d post-burn prevents resorptive bone loss and muscle protein breakdown. We have also shown in vitro that Ca modulates the inflammatory response by altering mononuclear cell chemokine production. We hypothesized that P affects muscle protein breakdown by altering cytokine or chemokine concentration directly or indirectly by lowering blood ionized (i) Ca. We retrospectively analysed biomarker...

Objective: The significance of low alkaline phosphatase (ALP) is often not recognised by clinicians. It is the hallmark of hypophosphatasia and this oversight leads to delays in diagnosis, inappropriate treatment and potentially harm. Using the standard that an abnormal result should be recognised by the clinician and the potential cause and need for further investigation documented in the medical records we conducted an audit of our practice at the Royal National Orthopaedic ...

Background: Camurati-Engelmann disease (CED) is a rare bone dysplasia characterised by hyperostosis and sclerosis of the diaphyses of the long bones and skull. It is caused by autosomal dominant gain-of function mutations within TGFB1, which result in increased activity of transforming growth factor β1 (TGF-β1). It typically presents in mid-childhood with bone pain, myopathy and progressive immobility. Evidence for treatment is based on a number of case repo...

Introduction: Whilst it is well-established that sedentary behaviour may increase the risk of paediatric obesity, and potentially result in early onset cardio-metabolic diseases such as type 2 diabetes and cardiovascular disease, there is less consensus about the potential detrimental effects that long-term sedentary behaviour may have on bone health during childhood.Purpose: To determine if long-term sedentary behaviour affects accrual of bone mass, str...

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Bone tissue engineering relies on the combination of scaffolds and cells aiming to heal bone defects. Among the many candidates for scaffolds, gelatin sponge (Gelfoam®) and fibrin glue (Tissucol®) are of interest due to the well-established biocompatibility and the ability to be loaded with cells. Here, we evaluated their potential to stimulate bone formation by microtomography analysis. For this, 5-mm unilateral calvarial defect was created in rats deeply anesthetiz...

Adult mesenchymal stem cells (MSCs) are of interest in the fields of cell therapy and tissue engineering thanks to their potential of differentiating into distinct cell lineages, e.g. osteoblast, chondrocyte, myoblast, and adipocyte. As the capacity of differentiation may vary according to the cell source, here, we compared the potential of osteoblast differentiation of MSCs derived from either bone marrow or adipose tissue. MSCs from rat bone marrow and adipose tissue were cu...

The healing of bone fractures is a tightly regulated process where released growth factors and cytokines interplay within an inflammatory environment in order to reestablish the functional bone. Recent studies have suggested that endothelial cells may dedifferentiate into mesenchymal multipotent cells via a mechanism called endothelial-to-mesenchymal-transition (EndoMT). Transforming growth factor-β (TGF-β) plays a critical role inducing EndoMT. Subsequent differenti...