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: Proteus syndrome (PS) is a rare mosaic disorder comprising asymmetric bony and soft tissue overgrowth leading to significant morbidity. Placement of guided growth hardware with subsequent epiphyseal arrest improves leg length and angular deformities in pediatric patients without PS.Presenting problem: The purpose of this study was to review the surgical approach and present outcomes, complications, and recommendations in eight patients with P...

Objectives: Children with congenital heart disease (CHD) have been found to have markedly low levels of physical activity (PA) compared to typically developing peers. It is well known that PA during the growing years has a beneficial effect on bone health with the most active children laying down more bone than their less active peers. If children with CHD are avoiding PA, current and future bone health may be compromised; however, very little is known of the bone health of ch...

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...

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...

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Purpose: In X-linked hypophosphatemia (XLH), elevated serum FGF23 causes low serum phosphorus (Pi) and inappropriately normal 1,25-dihydroxyvitamin D (1,25(OH)2D) levels. We report safety, tolerability and biochemistry markers following single ascending dose administration of KRN23 in adults with XLH.Methods: 38 XLH subjects with baseline FGF23≥30 pg/ml were randomized to receive single doses of KRN23 (K) or placebo (P) either (0.003&#15...

Purpose: In X-linked hypophosphatemia (XLH), elevated serum FGF23 causes low serum phosphorus (Pi) and inappropriately normal 125-dihydroxyvitamin D (125(OH)2D) levels. We report PK and PD of KRN23 following single ascending dose administration in adults with XLH.Methods: 38 XLH patients with baseline FGF23≥30 pg/ml were randomized to receive a single dose of KRN23 (K) or placebo (P) either i.v. (0.003–0.3 mg/kg) or s.c. (0.1–1...

Introduction: ENPP1 Deficiency manifests as GACI type 1 in infants, a disorder characterized by extensive arterial calcifications and stenoses, often fatal in utero or in early infancy. Beyond six months, the mortality rate significantly decreases among survivors, who may later develop ARHR2, characterized clinically by short stature, bone deformities and pain. ABCC6 Deficiency also manifests as GACI type 2 in infants and is clinically indistinguishable from GACI type 1. Anima...