Abstract Search

ba0004p145 | (1) | ICCBH2015

Zoledronate as first line therapy for pediatric osteogenesis imperfecta?

Keemink Yvette , van Brussel Marco , Sakkers Ralph , Pruijs Hans , van Dijk Atty

Background: In pediatric osteogenesis imperfecta (OI), bisphosphonates (BPs) are considered the best treatment option to increase bone density and reduce fracture rate. Pamidronate (PAM) is regarded as standard care for moderate to severe OI. The most recent added BP is intravenous zoledronate (ZOL). ZOL has practical advances over PAM, however research on its efficacy and safety is scarce.Objectives: To investigate the efficacy and safety of treatment w...

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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) ...

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Bone Abstracts

Zoledronate as first line therapy for pediatric osteogenesis imperfecta?

PLS3 mutations in X-linked osteoporosis with fractures

BiosciAbstracts