Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp97 | Bone development/growth and fracture repair | ECTS2013

Organometric parameters of rat's bones under the effect of toluene vapor

Skorobogatov A , Luzin V , Morozov V , Shutov Ye

Objectives: The aim of this study was establish features changes of organometric parameters of bones in mature male rats after a 60-day inhalation seed toluene.Materials and methods: For the experiment were selected 60 mature male rats were divided into two groups: 1st – intact rats, 2nd group – the rats that every day for 2 months to device for inhalation agents received a one-time inhalation of toluene exposure 4 h in 10 maximum permissible c...

ba0006oc12 | (1) | ICCBH2017

Fracture incident rate and growth in a nationwide cohort of boys with Duchenne Muscular Dystrophy

Joseph S , Bushby K , Guglieri M , Horrocks I , Straub V , Ahmed SF , Wong SC , Northstar Clinical Network SC

Background: Fracture incidence rate and growth according to different glucocorticoid (GC) regimen in Duchenne Muscular Dystrophy (DMD) is currently unknown.Objective: To determine the extent of skeletal morbidity and the influence of GC regimen on fracture incidence rate and growth in a contemporary cohort of DMD in the UK.Method: Clinical details of 832 boys with DMD in the North Star database (2006–2015) from 23 centres were...

ba0002p114 | (1) | ICCBH2013

Association between parameters of bone mass measured by dual energy X-ray absorptiometry and quantitative ultrasound of proximal phalanges in children and adolescents with congenital adrenal hyperplasia

Goncalves Ezequiel M , Barbeta Vinicius J O , Bertapelli Fabio , Krahenbuhl Tathyane , Luiz Carlos B Ramalho , Martin Juan Eduardo Samur-San , Lemos-Marini Sofia H V , Guerra-Junior Gil

The chronic use of glucocorticoids in patients with congenital adrenal hyperplasia (CAH) may result in decreased bone mass. Therefore, using simple and accurate methods for assessing bone status in these patients could facilitate the treatment of disease. The purpose of this study was to verify the association between parameters of bone mass measured by dual energy X-ray absorptiometry (DXA) and quantitative ultrasound (QUS) of proximal phalanges in children adolescents with c...

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...

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...

ba0002oc10 | Biology | ICCBH2013

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 H M , Zillikens Carola M , Timpson Nicholas J , St Pourcain Beate , Ring Susan M , Hofman Albert , Jaddoe Vincent W V , 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 Longitu...

ba0003pp187 | Genetics | ECTS2014

A novel mutation in IFITM5, encoding BRIL, impairs osteoblast production of PEDF and causes atypical type VI osteogenesis imperfecta

Reich Adi , Farber Charles R , Barnes Aileen M , Becerra Patricia , Rauch Frank , Cabral Wayne A , Bae Alison , Glorieux Francis H , Clemens Thomas L , Marini Joan C

Osteogenesis imperfecta (OI) type V is caused by a unique dominant mutation (c.−14C>T) in IFITM5, which encodes BRIL, a transmembrane ifitm-like protein most strongly expressed in osteoblasts, while type VI OI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF). We identified a 25-year-old woman with severe OI, whose dermal fibroblasts and cultured osteoblasts displayed minimal secretion of PEDF, but ...

ba0005oc1.4 | Clinical trials and osteoporosis treatment | ECTS2016

Relationship between total hip (TH) BMD T-score and incidence of nonvertebral fracture (NVFX) with up to 10 years of Denosumab (Dmab) treatment

Ferrari S , Adami S , Brown J P , Cosman F , Czerwiński E , de Gregorio L H , Malouf J , Reginster J-Y , Daizadeh N S , Wang A , Wagman R B , Lewiecki E M

The relationship between BMD T-score and FX risk has not been established in patients receiving osteoporosis therapy. In the FREEDOM Extension study, continuous DMAb therapy for up to 10 years increased BMD levels with no therapeutic plateau at lumbar spine or TH [Bone et al, ASBMR 2015]. Such improvements would only be meaningful if associated with FX reductions. We investigated the relationship between TH BMD T-score and NVFX in women who received DMAb during FREEDOM and tho...

ba0007p150 | (1) | ICCBH2019

Osteogenesis imperfecta: skeletal outcomes after bisphosphonates discontinuation at final height

Robinson Marie-Eve , Trejo Pamela , Palomo Telma , Glorieux Francis H , Rauch Frank

Objectives: Intravenous cyclical bisphosphonates are widely used to treat children with moderate to severe osteogenesis imperfecta (OI). They increase bone mineral density (BMD), diminish fracture rates and improve mobility. Bisphosphonates are often discontinued when growth is completed. We aimed to determine if the skeletal gains achieved with bisphosphonates persist after their discontinuation in patients with OI.Methods: We assessed patients with OI ...

ba0001pp170 | Cell biology: osteoblasts and bone formation | ECTS2013

Calcium transport and phosphomonohydrolase activity by proteoliposomes harboring annexin V and alkaline phosphatase

Bolean Mayte , Simao Ana Maria , Kiffer-Moreira Tina , Hoylaerts Marc , Millan Jose Luis , Ciancaglini Pietro

The biomineralization process is initiated inside matrix vesicles (MVs), with phosphate and calcium ions crystallizing as hydroxyapatite. This process is accomplished by the activities of several proteins, such as annexins (e.g. AnxV) that mediates Ca2+ influx into MVs and tissue-nonspecific alkaline phosphatase (TNAP), a phosphomonohydrolase that uses ATP and PPi as substrates. Dipalmitoylphosphatidylcholine (DPPC) and dipalmitoylphosphatidylserine (DPPS...