Searchable abstracts of presentations at key conferences on calcified tissues

ba0002is9 | (1) (1) | ICCBH2013

DXA and vertebral fracture assessment

Adams Judith

Vertebral fractures (VF) in adults are the most common osteoporotic fracture, are powerful predictors of future fracture risk (hip X2; spine X5) and their prevalence increases as bone mineral density (BMD) declines. The most common imaging method for diagnosis is spinal radiography, but they can be identified fortuitously also on other imaging techniques performed for various clinical indications.1 Midline reformations of multi-detector CT (MDCT) scans of thorax and...

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) ...

ba0001pp139 | Cancer and bone: basic, translational and clinical | ECTS2013

New PI3Kα-specific inhibitor, BYL719: therapeutic interest in osteosarcoma

Gobin Berengere , Baud'huin Marc , Charrier Celine , Hervouet Soizic , Lezot Frederic , Blanchard Frederic , Heymann Dominique

It has been established that disturbances of intracellular signaling pathways strongly contribute to the oncologic process. Indeed, phosphatidylinositol-3-kinase (PI3K) became a key target in cancer therapy, due to its high frequency of mutation and/or gain of function of its catalytic subunits in cancer cells. In this context, we investigated the in vitro and in vivo effects of a new PI3Kα inhibitor, BYL719 (Novartis Pharma), on bone cells and its thera...

ba0001pp140 | Cancer and bone: basic, translational and clinical | ECTS2013

NVP-BEZ235, a dual PI3K/mTOR inhibitor, inhibits osteosarcoma cell proliferation and the tumor development in vivo

Gobin Berengere , Battaglia Severine , Chesneau Julie , Heymann Dominique

Osteosarcoma is the most common primary malignant bone tumor, characterized by osteoid production and/or osteolytic lesions of bone. Despite recent improvements in chemotherapy and surgery, the problem of non-response to chemotherapy remains and constitutes a poor prognosis parameter. Consequently new therapeutic strategies aim to improve the overall rate of survival. The present work investigated the therapeutic interest of a dual phosphatidylinositol-3-kinase (PI3K)/mammalia...

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)...

ba0003pp69 | Bone development/growth and fracture repair | ECTS2014

Enhancement of fracture repair by upregulation of the innate immune response

Santo Ana Isabel Espirito , Chan James K , Glass Graeme E , Ersek Adel , Freidin Andrew , Williams Garry A , Gowers Kate , Jeffery Rosemary , Otto William R , Poulsom Richard , Feldmann Marc , Rankin Sara M , Horwood Nicole J , Nanchahal Jagdeep

Osteoporotic fractures are very common and represent an enormous unmet medical need. Our group has previously reported that addition of rTNF to the fracture site promotes fracture healing in C57/BL6 mice (Glass et al. PNAS 2011). Using a murine fracture model of endochondral healing, we observed that local addition of rTNF only accelerates fracture repair if administered within the first 24 h following injury. The optimal therapeutic dose is 1 ng. TNF is firs...

ba0006pl1 | (1) | ICCBH2017

Poster List

Poster No. Category Title Author P002 Bone development A 3-year longitudinal study of skeletal effects and growth in children after kidney transplantation <a href="ba...

ba0002is10 | The fracturing child: therapeutics | ICCBH2013

Medical therapies: present and future

Munns Craig

Bisphosphonates are the mainstay of medical therapy in the fracturing child with osteoporosis. The majority of the data in children pertains to i.v. pamidronate use in children and adolescents with osteogenesis imperfecta (OI), where pamidronate has been associated with improvements in bone mineral density, cortical thickness, vertebral shape, pain, mobility and height.1 Side-effects of pamidronate including acute phase response to the initial dose and retardation o...

ba0002p154 | (1) | ICCBH2013

Smad4 regulates growth plate chondrocyte proliferation, columnar organization and proteoglycan synthesis

Whitaker Amanda , Berthet Ellora , Cantu Andrea , Laird Diana , Alliston Tamara

Objective: The physis, or growth plate, is comprised of precisely organized chondrocytes that confer longitudinal growth of the bone. Multiple signaling pathways cooperate to regulate growth through their control of chondrocyte shape, polarity, proliferation, and differentiation.1,2 Disruption of these cellular events result in physeal defects, skeletal deformities, and abnormal limb growth. Loss of function mutations in Smad4, a common intracellular effector of all...