Bone Abstracts

Objectives: Osteogenesis Imperfecta (OI) is a collagen-related disorder. Type V OI, caused by a recurrent dominant mutation in the plasma membrane protein IFITM5/BRIL, and type VI OI, caused by recessive null mutations in the anti-angiogenic factor PEDF, have distinct features. IFITM5 S40L, reported in six patients, causes severe dominant OI with phenotype and bone histology similar to type VI, rather than Type V, OI. Our objective is to understand the pathway connecting IFITM...

Objectives: A common feature of nearly all forms of osteogenesis imperfecta (OI) is a hypermineralized bone matrix. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, lead to type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyte development and increased matrix mineralization. Recently, atypical type VI OI has been delineated, caused by a loss-of-function mutation (p.S40L) in IFITM5 the causative gene for type V OI. The 6 cases rep...

Objectives: Pediatric vitamin D (25-hydroxyvitamin D - 25OHD) deficiency can lead to nutritional rickets and extra-skeletal complications. Compliance with daily therapy can be difficult, making high dose, short-term vitamin D (stoss) therapy attractive to correct vitamin D deficiency. We compared the effectiveness and safety of standard versus stoss therapy in treating childhood 25OHD deficiency.Study design: Children aged 2–16 years with 25OHD &#60...

Objectives: Burosumab is an anti-FGF23 fully human monoclonal antibody, recently approved for the treatment of X-linked hypophosphatemia (XLH), presenting a novel treatment approach compared to conventional therapy (CT), composed of oral phosphate and active vitamin D. The objective of this study is to perform a Multi-Criteria Decision Analysis (MCDA) to assess the value of burosumab for the treatment of paediatric patients with XLH in Portugal, in comparison to CT.<p clas...

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...

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Extreme high bone mass (HBM) may be monogenic (e.g. due to mutations in SOST or LRP5) or polygenic, due to variants in the same genes determining bone mineral density (BMD) as found in the general population. We aimed to determine the genetic cause underlying HBM in an extreme HBM population.258 unexplained HBM cases (defined as L1 Z-score ≥+3.2 plus total hip Z-score ≥+1.2, or total hip Z-score ≥+3.2 and L1 <...

The transplantation of autologous bone graft represents the ‘gold standard’ treatment for large bone defects, despite the harvesting co-morbidity and limited availability. An alternative scaffold-based approach is presented. Our aim was to investigate to what degree structured scaffolds alone, or in combination with biological stimuli, allow guiding tissue regeneration. Scaffolds consisting of medical-grade polycaprolactone and tricalcium phosphate microparticles, co...

Understanding normal patterns of bone growth is important for optimising bone health in children and reducing osteoporotic fractures in later life. Recently published guidelines for bone assessment in children state that to predict fractures a technique should identify children at risk of clinically significant fractures and that dual-energy absorptiometry (DXA) is the preferred method of assessment. Despite these guidelines there is still inconsistency and lack of consensus r...

Objectives: As children with confirmed type 1 Gaucher disease (inherited metabolic disorder) may have linear growth retardation, we evaluated linear growth over 2 years in children enrolled in the interventional study TKT034, in which patients receiving imiglucerase enzyme replacement therapy were switched to velaglucerase alfa.Methods: Trial TKT034 enrolled patients who were ≥2 years of age with type 1 Gaucher disease and stable clinical parameter...