Searchable abstracts of presentations at key conferences on calcified tissues

ba0001oc3.5 | Osteoporosis pathophysiology and genetics | ECTS2013

Genome-wide association identifies a new susceptibility locus at 4q35 associated with clinical vertebral fractures in post-menopausal women: the GEFOS-GENOMOS consortium

Alonso N , Estrada K , Herrera L , Kabir D , Olmos J M , Sanudo C , Riancho J A , Oei L , Medina-Gomez M C , Stenkjaer L , Bjerre L , Langdahl B , Brown M A , Duncan E L , Sims M , Kaptoge S , Reeve J , Lewis J , Prince R , Reppe S , Olstad O K , Gautvik K M , Garcia-Giralt N , Nogues X , Mencej-Bedrac S , Marc J , del Pino J , Gonzalez-Sarmiento R , Wolstein O , Eisman J , Feenstra B , Melbye M , Albagha O M E , WTCCC , Davies G , Starr J , Deary I , Quintela I , Fernandez C , Carracedo A , Lucas G , Elosua R , Uitterlinden A G , Rivadeneira F , Ralston S H

Vertebral fractures (VF) defined by morphometric analysis of spine radiographs are the most common complication of osteoporosis. Those that come to medical attention, with symptoms such as back pain and kyphosis are termed clinical vertebral fractures (CVF) and account for significant morbidity and mortality. Although much progress was made in identifying loci for bone mineral density, the genetic determinants of CVF remain unclear. Here we present the initial results from a g...

ba0003oc4.1 | Genetics of bone disease | ECTS2014

PLS3 mutations in X-linked osteoporosis with fractures

Zillikens M Carola , van Dijk Fleur S , Micha Dimitra , Riessland Markus , Marcelis Carlo LM , de-Die Smulders Christine E , Milbradt Janine , Franken Anton A , Harsevoort Arjan J , Lichtenbelt Klaske D , van de Peppel J , Pruijs Hans E , Rubio-Gozalbo M Estela , Zwertbroek Rolf , Moutaouakil Youssef , Egthuijsen Jaqueline , van der Eerden B , Hammerschmidt Matthias , Bijman Renate , Semeins Cor M , Bakker Astrid D , Everts Vincent , Klein-Nulend Jenneke , Campos-Obando Natalia , Hofman Albert , te Meerman Gerard J , van Leeuwen JP , Verkerk Annemieke JMH , Uitterlinden Andre G , Maugeri Alessandra , Sistermans Erik A , Waisfisz Quinten , Meijers-Heijboer Hanne , Wirth Brunhilde , Simon Marleen EH , Pals Gerard

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...

ba0001pp33 | Bone biomechanics and quality | ECTS2013

Influence of the organic matrix of mineralized tissues on their dynamic mechanical properties assessed by scanning acoustic microscopy

Blouin Stephane , Puchegger Stephan , Klaushofer Klaus , Roschger Paul , Fratzl Peter

Mineralized tissues like bone, articular calcified cartilage or mineralized turkey leg tendon (MTLT) are build by a composite of hydroxyapatite nano-particles and organic matrix. In bone and MTLT the matrix is formed by collagen type-I, but in contrast to bone in MTLT the collagen is uniaxial orientated, while in cartilage the matrix consists of collagen type-II and proteoglycans.Composition/orientation differences were investigated by a new scanning aco...

ba0005s4.3 | East Meets West | ECTS2016

Development of osteoconductive and osteoinductive bone healing materials

Lee Jae Hyup

Autogenous bone graft has been used in the treatment of a fracture, non-union, and bone defect. However, bone graft substitutes have been developed and used because of the limited amount or donor site morbidity of the autogenous bone graft. Many kinds of bone graft substitutes including osteoconductive materials and osteoinductive materials are used for improving bone healing. Osteoconductive materials help to provide a three-dimensional structure to support the ingrowth of th...

ba0002oc26 | Chronic diseases | ICCBH2013

Vertebral fractures in the 3-year period following steroid initiation among children with chronic illnesses

Miettunen P M , Taljaard M , Alos N , Atkinson S , Cabral D , Clarson C , Couch R , Cummings E A , Feber J , Grant R M , Lentle B , Matzinger M , Nadel H , Rodd C , Shenouda N , Stein R , Stephure D , Taback S , Rauch F , Siminoski K , Ward L M , the Canadian STOPP Consortium

Objectives: To describe the incidence of vertebral fractures in steroid-treated children.Methods: Fractures were assessed prospectively each year for 3 years according to the Genant semi-quantitative method. Proportions of children with incident fractures were determined annually over the study period. To examine associations with baseline clinical factors, the 3-year total number of incident fractures was analyzed using multivariable Poisson regression....

ba0003oc2.2 | Osteoporosis epidemiology | ECTS2014

Effect of daily vitamin B12 and folic acid supplementation on fracture incidence in elderly with an elevated plasma homocysteine level: B-PROOF, a randomized controlled trial

van Wijngaarden JP , Swart KMA , Enneman AW , Dhonukshe-Rutten RAM , van Dijk SC , Ham AC , Brouwer-Brolsma EM , van der Zwaluw NL , Sohl E , van Meurs JBJ , Zillikens MC , van Schoor NM , van der Velde N , Brug J , Uitterlinden AG , Lips P , de Groot CPGM

Background: Elevated plasma homocysteine levels are a risk factor for osteoporotic fractures. Supplementation with vitamin B12/folic acid lowers homocysteine levels. This study aimed to determine whether vitamin B12/folic acid supplementation reduces osteoporotic fracture incidence in hyperhomocysteinemic elderly.Methods: B-PROOF is a double-blind, randomized, placebo-controlled trial including 2 919 participants aged ≧65 years with elevated homocyste...

ba0003pp297 | Osteoporosis: treatment | ECTS2014

Contribution of circulating sclerostin and estradiol for inadequate response to bisphosphonate therapy in women with postmenopausal osteoporosis

Munoz-Torres M , Diez-Perez A , Olmos J M , Nogues X , Sosa M , Diaz-Curiel M , Perez-Castrillon J L , Perez-Cano R , Torrijos A , Jodar E , Rio L Del , Caeiro-Rey J R , Rubio V Avila , Garcia-Martin A , Reyes-Garcia R , Garcia-Fontana B , Gonzalez-Macias J , Morales-Santana S

Bisphosphonate treatment reduces fracture risk in women with postmenopausal osteoporosis. However, some patients have an inadequate response to treatment. Estradiol and sclerostin play an important role in bone metabolism. Sclerostin is an endogenous inhibitor of osteoblastic activity and estrogen deficiency increases osteoclast activity and bone resorption.We examined the influence of both measures on fracture incidence in postmenopausal osteoporosis in...

ba0005p226 | Energy metabolism and bone, fat and bone | ECTS2016

Osteocalcin interacts with brain-derived neurotrophic factor, nerve growth factor but not oxytocin in the regulation of bone, energy, brain and reproductive functions

Camerino Claudia , Caloiero Roberta , Conte Elena , Tricarico Domenico

Osteocalcin, the neurotrophins BDNF/NGF and Oxytocin(Oxt) have pleiotropic effects on energy metabolism, bone mass, reproduction and brain functions suggesting a coordinated regulation. The carboxylated osteocalcin(Ost) acts on bone, while the uncarboxylated Ost shows hormone-like actions. NGF regulates female fertility elevating LH, Ost−/− mice show high LH in spite of decreased testosterone. BDNF/NGF-Oxt-Ost interactions was investigated by RT-PCR meas...

ba0006is03 | (1) (1) | ICCBH2017

Bone cells in health and disease

Besio Roberta , Gioia Roberta , Tonelli Francesca , Ceppi Ilaria , Leoni Laura , Atta Linda Ofori , Rossi Antonio , Forlino Antonella

Bone is a complex tissue constituted by a mineral phase, hydroxyapatite, and an organic phase, mainly represented by collagen type I. Specialized cells are responsible for bone formation and remodeling. Osteoblasts represent the bone forming cells, osteocyte are the orchestrator of bone remodeling through regulation of the other bone cells activity, by functioning as endocrine cells and by acting as mechanosensor, and osteoclasts, the bone resorbing cells. Mesenchymal osteopro...

ba0007p37 | (1) | ICCBH2019

Generation of osteogenesis imperfecta type XIV zebrafish models

Leoni Laura , Tonelli Francesca , Cotti Silvia , Giannini Gabriella , Daponte Valentina , Gioia Roberta , Besio Roberta , Garibaldi Nadia , Rossi Antonio , Forlino Antonella

Objectives: Osteogenesis Imperfecta (OI) type XIV is a recessive OI form characterized by bone fragility, multiple fractures and growth retardation. It is caused by mutation in TMEM38B gene encoding the endoplasmic reticulum (ER) channel TRIC-B. This channel allows the transport of K+ across the ER membrane modulating Ca2+ flux. Defective ER Ca2+ impaires collagen type I synthesis, likely affecting the activity of ER enzymes involved in its post translational modification. To ...