Searchable abstracts of presentations at key conferences on calcified tissues

ba0002p89 | (1) | ICCBH2013

Painful vertebral fractures during pregnancy: be aware of a potentially underlying genetic cause

Zillikens M Carola , Campos-Obando Natalia , Oei Ling , Simon Marleen

Background: The baby growing in its mother’s womb needs calcium for skeletal development. Maternal osteoporosis has been attributed to pregnancy in some cases.Presenting problem: A 27-year-old woman in the 7th month of her first pregnancy complained of mid-thoracic back pain after lifting a non-heavy object. The pain remained with differing intensity and was attributed to her pregnancy. After the delivery of a healthy child, the back pain prevented ...

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...

ba0004p59 | (1) | ICCBH2015

Vibration treatment can enhance the bioactive response of osteoblasts to vitamin D in adolescent idiopathic scoliosis patients

Zhang Jiajun , Lee WayneY W , Shi Benlong , Tam Elisa M S , Chen Huanxiong , Lee Simon K M , Ng Bobby K W , Cheng Jack C Y , Lam Tsz Ping

Objectives: Adolescent idiopathic scoliosis (AIS) is a complex three-dimensional spinal deformity associated with low bone mass. Our previous clinical trial demonstrated the anabolic bone effect of vibration treatment (VT) at the femoral neck in AIS subjects. The therapeutic effect was more pronounced in those with optimal serum 25(OH) Vit-D level (>40 nmol/l). To investigate possible factor interaction between Vit-D and VT on their anabolic bone effects, this in-vitro...

ba0005p114 | Cancer and bone: basic, translational and clinical | ECTS2016

Increased zinc accumulation in mineralized osteosarcoma tissue

Rauwolf Mirjam , Pemmer Bernhard , Roschger Andreas , Turyanskaya Anna , Simon Rolf , Lang S. , Puchner S E , Windhager Reinhard , Klaushofer Klaus , Wobrauschek Peter , Hofstaetter Jochen G , Roschger Paul , Streli Christina

Abnormal tissue levels of certain trace elements such as Zinc (Zn) were reported in various types of cancer. Little is known about the role of Zn in osteosarcoma.Using confocal synchrotron radiation micro X-ray fluorescence analysis, we characterized the spatial distribution of Zn in high-grade (G3) sclerosing osteosarcoma of nine patients (4 f/5 m; 7 knee/1 humerus/1 femur) following chemotherapy and wide surgical resection. The study was done in accord...

ba0005p50 | Bone development/growth and fracture repair | ECTS2016

Prostaglandin IP agonist promotes osteoblastic differentiation and BMP induced bone formation

Kanayama Sadaaki , Kaito Takashi , Kashii Masafumi , Makino Takahiro , Morimoto Tokimitsu , Kitaguchi Kazuma , Ishiguro Hiroyuki , Yoshikawa Hideki

Introduction: A synthetic prostacyclin IP receptor agonist (ONO-1301) has been reported to induce the production of endogenous HGF and VEGF in fibroblasts by stimulating cAMP production.Materials and methods: In vitro; murine primary osteoblasts and cell line (ST2, MC3T3-E1, C2C12) were treated with BMP-2 (0–100 ng/ml) and ONO-1301 (0–10−6 M). ALP assay and cell proliferation assay were performed. In vivo analysis, Col...

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) ...

ba0006p203 | (1) | ICCBH2017

Neurofibromatosis type 1 (NF1) associated congenital pseudarthrosis of the Tibia and Fibula misdiagnosed as non-accidental injury (NAI)

Mughal M Zulf , Ali Farhan , Santos Rui , Vassallo Grace , West Siobhan , Howard Elizabeth , Eelloo Judith , Hupton Eileen , Rowles Elizabeth , Huson Susan M

Background: Congenital tibial pseudarthrosis (CTP) presents with anterolateral bowing of the lower leg in infancy, which often progresses to fracture and non-union (pseudarthrosis). CTP occurs in 2–3% of children with NF1. The distal end of the fibula and other long bones can also be affected.Objective: We describe three children in whom NF1 related congenital tibial or fibular pseudarthrosis was initially misdiagnosed as NAI....

ba0003pp281 | Osteoporosis: pathophysiology and epidemiology | ECTS2014

State of vitamin D sufficiency Ukrainian schoolchildren

Povoroznyuk Vladyslav , Balatska Nataliya , Budnik Tetyana , Erokchina O

Background: It is now known that the osteoporosis starts developing childhood. Children’s age is characterized by intensive accumulation of bone mass. By the end of puberty the level of bone mass in many parts of the skeleton reaches 86% of the bone mass of an adult and in some parts it reaches 100%.The processes of bone metabolism closely connected with the level of the vitamin D, in the body because it has a pronounced effect on calcium homeostasi...

ba0007p123 | (1) | ICCBH2019

Odontochondrodysplasia in association with a TRIP11 mutation

Sheridan Sabrina , McCarron Laura , Donnell Gillian O , McDonnell Ciara

Background: Pathogenic mutations in thyroid hormone receptor interactor 11 (TRIP11) have previously been associated with achondrogenesis1A, a lethal autosomal recessive skeletal dysplasia. Recent findings have suggested that hypomorphic mutations of TRIP11 result in odontochondrodysplasia (ODCD), a rare syndrome associated with spondylometaphyseal dysplasia and dentinogenesis imperfecta.Presenting problem: This is the case of a term female born to non-co...