Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp205 | Cell biology: osteoblasts and bone formation | ECTS2013

Thrombin receptor deficiency leads to osteopetrosis by decreasing the RANKL/OPG ratio

van der Eerden BCJ , Tudpor K , Jongwattapapisan P , Woudenberg-Vrenken TE , Bindels RJM , Hoenderop JGJ , van Leeuwen JPTM

Communication between osteoblasts and osteoclasts is crucial for bone remodeling. Thrombin and its thrombin receptor (TR; PAR-1) are expressed in osteoclasts and osteoblasts, respectively. To date, the physiological roles of thrombin and TR in bone metabolism have not been elucidated. Therefore, we fully characterized the bone phenotype of mice lacking the thrombin receptor.We performed bone microarchitectural analyses of the femurs of 10–12 week ol...

ba0002oc17 | Diagnostics | ICCBH2013

Determinants of bone mineral density in long-term adult survivors of childhood cancer

Klap B C , te Winkel M L , den Hoed M , van Waas M , Neggers S J C M M , Boot A M , Pieters R , Pluijm S M F , van den Heuvel-Eibrink M M

Objectives: Osteopenia is a complication of childhood cancer treatment but it is unknown to which extend this occurs in adult survivors, and which subgroups are at risk. We examined bone mineral density (BMD) and assed the relative importance of potential determinants of low BMD in very long-term adult survivors of childhood cancer.Methods: The single-center cohort study included 410 adult CCSs (median age at diagnosis: 6.6 years (range: 0–17 years)...

ba0002oc28 | Chronic diseases | ICCBH2013

Bone mineral density at diagnosis determines fracture rate in children-treated according to the DCOG-ALL9 protocol

te Winkel Mariel Lizet , Pieters Rob , Hop Wim C J , Roos Jan C , van der Sluis Inge M , Bokkerink Jos P M , Leeuw Jan A , Bruin Marrie C A , Kollen Wouter J W , Veerman Anjo J P , de Groot-Kruseman Hester A , van den Heuvel-Eibrink Marry M

Objectives: To elucidate the incidence and risk factors of skeletal toxicity in children with ALL treated with the dexamethasone-based DCOG-ALL9 protocol.Methods: Prospectively, the cumulative incidence of fractures was assessed in 672 patients and compared between different subgroups using the log-rank test. Serial measurements of bone mineral density of the lumbar spine (BMDLS) were performed in 399 ALL patients using dual energy X-ray absor...

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) ...