Bone Abstracts

Objectives: Osteogenesis imperfecta (OI) is a bone fragility disorder associated with reduced muscle size, dynamic muscle function and mobility. This paired randomised controlled pilot study assessed the effect of whole body vibration (WBV) training on bone density and geometry, muscle size and function, mobility, and balance in children with OI.Methods: Twenty-four children (5–16 years) with OI types 1,4 and limited mobility (defined as a Childhood...

Background: Osteogenesis imperfecta (OI) type VI is a rare recessive disease that may present with long bone fractures in early childhood. Bone in this condition is particularly brittle; the resulting pattern of long bone fractures and lack of distinct radiographic findings can make the diagnosis less obvious than in other types of OI. We report 2 unrelated children who presented with long bone fractures and were suspected of having suffered physical abuse with removal of pare...

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...

see PP31....

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...