Bone Abstracts

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Heritability of bone mineral density (BMD) varies at skeletal sites, possibly reflecting different relative contributions of environmental and genetic influences. To quantify shared genetic influences across different sites, we estimated the genetic correlation of BMD at the upper limb (UL), lower limb (LL), and skull (S) obtained from whole body DXA scans, using bivariate genome-wide complex trait analysis (GCTA). The study (n=9395) combined data from the Avon Longit...

Background: Lean and bone mass are heritable traits with high phenotypic correlation (rho=0.44), likely reflecting the underlying mechanical and biochemical interactions between tissues.Aim: Estimate the shared heritability (genetic correlation) of both traits in children and identify genetic determinants displaying pleiotropic effects on lean mass and bone mass accrual.Methods: Participants make part of two prospective po...

Odanacatib (ODN), a selective oral inhibitor of cathepsin K, is in development for the treatment of osteoporosis. In the primary efficacy analysis of the Phase 3, Long-Term ODN Fracture Trial (LOFT; NCT00529373), ODN significantly reduced fracture risk compared with placebo in postmenopausal women with osteoporosis. Pre-specified subgroup analyses evaluated the efficacy of ODN in patient subgroups.Women aged ≥65 years, without baseline radiographic...

Objectives: While studies in adults with cystic fibrosis (CF) showed increased fracture risk and decreased bone mineral density (BMD), the results of the pediatric studies have been contradictory. Our aims were to assess volumetric BMD, bone geometry and the muscle–bone relation at the forearm in children with CF using peripheral quantitative CT (pQCT), and to correlate these bone parameters to pulmonary function.Methods: Fifty-three patients with C...

Objective: In girls with Rett syndromeDescribe bone mineral density (BMD) and contributing factors in a cross-section of subjects.Examine serial DXA measures.Examine effect of pamidronate on BMD over time.Methods: We reviewed the clinical course, medications, level of ambulation, 25-OH-Vit D levels, fracture history and DXA results in 13 girls with Rett syndrome. Eight subjects had more...

Rett (RTT) syndrome is a neurodevelopmental disorder that affects girls almost exclusively. The majority are related to mutations in the MECP2 gene.Patients with RTT syndrome have a high incidence of fractures that can occur at a young age. One of the objectives of this study was to identify clinical, radiographic and biological parameters associated to fracture incidence.89 RTT patients bearing a MECP2 mutation who had no...

Severe generalised recessive dystrophic epidermolysis bullosa (RDEB) is a rare disorder resulting from loss of function mutations in the type VII collagen gene (COL7A1). Although RDEB is characterised by severe skin blistering and erosions following minor mechanical trauma, it is a multisystem disorder with pubertal delay and low bone mass as part of the many complications.Children with RDEB have been described as having inadequate gains in bone...

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, auto-inflammatory disorder of unknown cause that affects children and adolescents. CRMO is characterized by periodic bone pain, fever, multiple bone lesions occurring at any skeletal site, even if the metaphyseal area of long bones, clavicle and shoulder girdle are the most common locations. Dermatological manifestations include psoriasis, acne and pustules. The clinical and radiological features of the disease are v...

Objectives: Earlier studies performed using dual energy X-ray absorptiometry indicate that underprivileged Indian girls acquire low bone mass during adolescence. Therefore, aim was to assess bone geometry of underprivileged Indian adolescent girls (age 12–19 years) using peripheral quantitative computed tomography (pQCT).Methods: Fifty-six adolescent girls were assessed for anthropometry (height, weight) (February 2016 to January 2017) and pQCT (STR...