Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p015 | (1) | ICCBH2017

Structural geometry of bones is prominently associated with risk of fracture in children

Medina-Gomez Carolina , Grgic Olja , Shevroja Enisa , Trajanoska Katerina , Uitterlinden Andre G , Jaddoe Vincent W , Beck Tom J , Rivadeneira Fernando

Background: Low total body BMD (TB-BMD) is an established risk factor for fractures in healthy children. However, bone strength depends not only on bone mass and density, but also on the structural geometry of bones. Hip structural analysis (HSA) is a technique applied on hip DXA scans to calculate several bone geometry parameters. The aim of our study was to evaluate other bone geometrical parameters that can constitute determinants of fracture risk. Specifically, we examined...

ba0006p010 | (1) | ICCBH2017

Transient hyperphosphatasemia in a child with nephrolithiasis And history of severe prematurity

Kutilek Stepan , Formanova Daniela , Senkerik Marian , Skalova Sylva , Markova Daniela , Langer Jan

Background: Transient hyperphosphatasemia of infancy and early childhood (THI) is a benign, usually accidentally detected condition characterized by transiently increased activity of serum alkaline phosphatase (S-ALP), its bone or liver isoform, in children under five years of age, without signs of metabolic bone disease or hepatopathy. When encountered in a child with either chronic bone, liver or kidney disease, THI might concern the physician. We present a patient with urol...

ba0002oc7 | Biology | ICCBH2013

The PPP6R3/LRP5 locus influences lean mass in children of different ethnic background and highlights pleiotropic effects and muscle–bone interactions

Medina-Gomez Carolina , Heppe Denise , Estrada Karol , Hofman Albert , Hsu Yi-Hsiang , Karasik David , Jaddoe Vincent , Zillikens M Carola , Uitterlinden Andre G , Rivadeneira Fernando

Aim: Lean and bone mass have considerably high phenotypic and genetic correlations with a shared heritability estimate ranging between 30 and 40% in adults. A genome-wide association study (GWAS) on total body lean mass and a bivariate GWAS on lean mass and BMD were ran in a cohort of children to identify genes with pleiotropic effects on muscle mass and peak bone mass attainment.Methods: Subjects are part of the Generation R study, a prospective multiet...

ba0006p118 | (1) | ICCBH2017

Genome-wide association study identifies five novel genetic determinants of dental maturation

Grgic Olja , Vucic Strahinja , Medina-Gomez Carolina , Trajanoska Katerina , Dhamo Brunilda , Jaddoe Vincent , Ongkosuwito Edwin , Jarvelin Marjo-Riitta , Timpson Nicholas , Evans David , Wolvius Eppo , Rivadeneira Fernando

Objectives: Advanced or delayed physiological age may influence significantly health and disease processes. Physiological age can be estimated using several parameters including dental age (DA). Previous meta-analyses studying “Number of Teeth at 15 Months” (NT15M) and “Age at First Teeth Eruption” (AFTE) have identified 15 loci. We performed a genome-wide association study (GWAS) meta-analysis to identi...

ba0001pp404 | Osteoporosis: treatment | ECTS2013

Sequential therapy after PTH 1–84 treatment: comparison among bisphosphonates and strontium ranelate

Pastore Renato , Mentuccia Daniela , Pasqualetti Patrizio , Frajese Gaetano

Introduction: Evidence in literature shows how is useful to use antiresorptive drugs such as bisphosphonates, in severe osteoporosi severe after PTH (1–34 or 1–84) treatment.Methods: This study was divided into two parts: the first one analyzed BMD changes by DXA at the lumbar and femoral and serum osteocalcin and β-CTX, monitoring their performance after 6, 12 and 18 months in 71 women with severe postmenopausal osteoporosis, treated for ...

ba0003pp334 | Osteoporosis: treatment | ECTS2014

Comparison of efficacy teriparatide between denosumab and on hip BMD in women with severe post-menopausal osteoporosis

Pastore Renato , Mentuccia Daniela , Pasqualetti Patrizio , Frontoni Simona

Introduction: Teriparatide is a potent anabolic drug that has demonstrated efficacy on fracture risk reduction in women with severe postmenopausal osteoporosis. Denosumab, designed to inhibit RANKL (RANK ligand), is a fully human MAB for the treatment of osteoporosis. BMD changes, measured by DXA, is an established tool for monitoring the effects of anti-osteoporotic therapy. Our purpose is to compare teriparatide vs denosumab efficacy on hip BMD variations, in postmenopausal ...

ba0006p150 | (1) | ICCBH2017

DXA based evaluation of the bone mass and body composition in a group of Romanian cystic fibrosis children

Barbu Carmen Gabriela , Lungu Diana , Comanici Valentina Daniela , Stan Iustina

Background: The significant increase in the life expectancy of the patients with cystic fibrosis (CF) came with some costs, as new complications have emerged. Among endocrine disorders, CF-related bone disease (CFBD) is a leading complications reported in the adult patients.Objectives: Our study present the first results of the bone mass and body composition evaluation by DXA in a small group of Romanian children with CF treated in the author’s depa...

ba0001pp282 | Genetics | ECTS2013

Phenotypic dissection of bone mineral density facilitates the identification of skeletal site specificity on the genetic regulation of bone

Kemp John P , Medina-Gomez Carolina , Estrada Karol , Heppe Denise , Zillikens Carola , Timpson Nicholas , Pourcain Beate , Ring Susan , Hofman Albert , Jaddoe Vincent V W , Smith George Davey , Uitterlinden Andre G , Tobias Jonathan H , Rivadeneira Fernando , Evans David M

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...

ba0004oc5 | (1) | ICCBH2015

Bivariate analyses of BMD and lean mass in children identifies variants with novel pleiotropic effects across six BMD loci and in the TOM1L2 locus

Medina-Gomez Carolina , Kemp John P , Heppe Denise H M , Tobias Jon H , Hofman Albert , Carola Zillikens M , Uitterlinden Andre G , Jaddoe Vincent W V , Evans David M , Rivadeneira Fernando

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...