Bone Abstracts

Background, subjects and methods: Vitamin D insufficiency in older people in the UK is common and may cause secondary hyperparathyroidism and bone loss. In a randomised, double blind intervention trial to optimise “Vitamin D status in Older People’ (VDOP) three oral dosages of vitamin D3 (12 kIU, 24 kIU or 48 kIU/month) were given for 12 months to 375 participants aged over 70 years (ANOVA) adjustment for covariables with results below presented in ascendi...

Introduction: Runt-related transcription factor 2 (RUNX2) is a major transcription factor essential for the regulation of osteoblast and chondrocyte differentiation, hence affecting skeletogenesis, bone and cartilage formation. The RUNX2 protein has unique consecutive polyglutamine and polyalanine repeats (Q/A) which are important for its transactivation function. Several variants within the RUNX2 gene have been implicated in osteoporosis and fracture susceptibility.<...

Purpose: Systemic sclerosis (SSc) is a rare inflammatory rheumatic disease that has been associated with an increased risk of low bone mineral density (BMD). However, data on risk factors associated with bone loss in SSc are scarce. The objective of this study was to investigate the prevalence of and the risk factors for low BMD in patients with SSc.Methods: Cross-sectional data of 61 patients with SSc were collected. BMD in the lumbar spine, total hip a...

Introduction: Osteogenesis imperfecta is a rare constitutional bone disease. The bone matrix is poor because of the often mutation on the gene coding for collagen I, leading to many fractures. Classification Sillence completed by Glorieux, describes the clinical variability. The management should be done case by case.Study objective: Evaluate the clinical profile, biological and radiological of 5 newly diagnosed cases.Material and ...

Background: Atypical Femur Fracture (AFF) has become widely reported as a complication of bisphosphonate therapy in adults since the first case report in 2005. A trend towards a similar pattern of fractures has been reported in children in Sheffield in 2012. A 13 year old boy was reported in 2014 with an ‘AFF’ of the tibia but that fracture did not meet the standard diagnostic criteria of AFF. Last year a 16-year-old girl treated with pamidronate for idiopathic juven...

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 ...

: Hyperphosphatemic tumoral calcinosis (HTC) is a rare autosomal recessive metabolic disorder characterized by ectopic calcifications due to progressive deposition of basic calcium phosphate crystals in soft tissues. The biochemical hallmark of HTC is hyperphosphatemia caused by increased renal absorption of phosphate due to loss-of-function mutations in three genes: in the fibroblast growth factor-23 gene (FGF23) coding for a potent phosphaturic protein, in GALNT3, g...

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...

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...

Objectives: We recently demonstrated that cow’s milk allergic infants who received an amino acid-based formula (AAF) for 16 weeks as oral feeding had adequate mineral status (1). One factor that may negatively affect mineral solubility and bioavailability and hence mineral status, is high gastric pH (2), but data on this in infants are lacking. Therefore, the present study evaluates serum concentrations of phosphorus, calcium and magnesium in a subgroup of infants on AAF ...