Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p63 | Bone development/growth and fracture repair | ECTS2016

Comparison of bone stiffness during fracture healing in the human distal radius assessed with HR-pQCT using μFEA and FEA based on downscaled images

Voermans Anne , de Jong Joost , Willems Paul , Geusens Piet , van den Bergh Joop , van Rietbergen Bert

High resolution peripheral quantitative computed tomography (HR-pQCT) in combination with micro finite element analysis (μFEA) is a promising tool to assess longitudinal changes in bone mechanical properties during the fracture healing process in the distal radius. In the present study we investigate if these changes can be detected as well when using images with lower resolutions, comparable to clinical QCT images.Postmenopausal women with a stable...

ba0005p158 | Cell biology: osteoblasts and bone formation | ECTS2016

A single 2-day pulse of activin-A leads to a transient change in gene expression eventually followed by reduction in extracellular matrix mineralization

Baroncelli Marta , Drabek Ksenija , Eijken Marco , Peppel Jeroen van de , van Leeuwen Johannes

Activins belong to the transforming growth factor-β superfamily, and they regulate bone formation by controlling both osteoclast and osteoblast behaviour. We have previously shown that activin-A strongly inhibited matrix mineralization in osteoblast cultures, and that activin A-signalling was most effective before the onset of mineralization.The aim of this study was therefore to investigate how an early activin-A pulse affected osteoblast mineraliz...

ba0006p119 | (1) | ICCBH2017

Phenotypic spectrum in Weyers acrofacial dysostosis: A case report

Rubino Chiara , Stagi Stefano , Petrolini Chiara , Gioe Daniela , La Spina Luisa , Peluso Francesca , Della Monica Matteo , de Martino Maurizio

Background: Weyers acrofacial dysostosis (WAD, OMIM 193530) is a rare autosomal dominant disease, characterized by mildly short stature, postaxial polydactyly, nail dystrophy and dental anomalies. WAD should be distinguished from Ellis-van Creveld syndrome (OMIM 225500), a similar but more severe disease, comprising chondrodysplasia, orofacial anomalies and, in a proportion of patients, cardiovascular malformations. Both diseases are caused by mutations in either EVC or EVC2<s...

ba0006p068 | (1) | ICCBH2017

Craniosynostosis can occur in children with nutritional rickets

Forestier-Zhang L , Arundel P , Cross R Gilbey , Mughal M Z , Offiah A C , Cheung M S

Background: Severe vitamin D deficiency (VDD), is a common disorder, which has complications including rickets, hypocalcaemia, hypotonia, delayed development and cardiomyopathy. Although nutritional rickets associated craniosynostosis has been reported, there is little awareness of this or knowledge about its clinical course or severity. We present five cases of late onset craniosynostosis in association with nutritional rickets.Clinical presentation: Th...

ba0007p18 | (1) | ICCBH2019

Bone mass and fracture prevalence in childhood brain cancer survivors (CBCS) 2 or 5 years after off therapy

Di Iorgi Natascia , Gallizia Annalisa , Mauro Vera , Crocco Marco , Garre Maria Luisa , Maghnie Mohamad

Background and aim: Multifaceted risk factors impair bone mass in childhood cancer survivors. Aims of the study were to evaluate bone mass and it’s determinant and fracture prevalence in CBCS 2 (G+2) or 5 (G+5) years after off therapy (OT).Methods: Seventy-three (G+2) and 87 (G+5) CBCS were evaluated at 12.9±4.2 and 14.9±4.4 yrs, respectively. Diagnoses were: astrocytic (G+2:n=25, G+5:n=24), embryonal (G+2:n=28, ...

ba0002p44 | (1) | ICCBH2013

A homozygous mutation in the DNA binding domain of human vitamin D receptor causes vitamin D resistant rickets

van der Eerden Bram , van der Heyden Josine , Hamburger Jan Piet , Schreuders-Koedam Marijke , Asmawidjaja Patrick , de Muinck Keizer-Schrama Sabine , Lubberts Erik , van Leeuwen Johannes , Drop Stenvert

In this case report, we present a brother and sister with hereditary vitamin D resistant rickets (HVDRR). Both children presented at the age of 18 months with severe rickets and elevated serum levels of 1,25-(OH)2D3. They differ from each other in that the girl presented with hypophosphatemia instead of hypocalcemia. Besides, she developed alopecia earlier than the boy and needed more 1,25-(OH)2D3 supplementation. Interestingly, the ...

ba0001pp203 | Cell biology: osteoblasts and bone formation | ECTS2013

Connectivity Map-based discovery of novel compounds that induce osteoblast differentiation

Brum A M , van de Peppel J , van Kerkwijk A , Janssen M , Schreuders-Koedam M , Strini T , Eijken M , van Leeuwen J P T M , van der Eerden B C J

Osteoporosis is a common skeletal disorder characterized by low bone mass leading to increased bone fragility and fracture susceptibility. Little is currently known about what specific factors stimulate osteoblast differentiation from human mesenchymal stem cells (hMSCs). Therefore, the aim for this project is to determine novel factors and mechanisms involved in human bone production which can be targeted to treat osteoporosis, using gene expression profiling and bioinformati...

ba0001pp269 | Genetics | ECTS2013

Expression analysis of mesenchymal KS483 cells during differentiation towards osteoblasts

Fijalkowski Igor , Boudin Eveline , Borra Vere , Van Hul Wim

The murine osteoprogenitor cell line, KS483 (Percuros, The Netherlands) is a well-established model for investigation of osteoblast differentiation and bone formation processes. The mesenchymal characteristics of this cell line allow it to differentiate into either adipocytes or mature, mineralizing osteoblasts. Various phases can be distinguished during osteoblast differentiation and maturation; namely proliferation, matrix formation, matrix maturation, and mineralization.</p...

ba0002oc11 | Biology | ICCBH2013

Connectivity map-based discovery of novel compounds that induce osteoblast differentiation

Brum A M , de Peppel J van , van Kerkwijk A , Janssen M , Schreuders-Koedam M , Strini T , Eijken M , van Leeuwen J P T M , van der Eerden B C J

Osteoporosis is a common skeletal disorder characterized by low bone mass leading to increased bone fragility and fracture susceptibility. Little is currently known about what specific factors stimulate osteoblast differentiation from human mesenchymal stem cells (hMSCs). Therefore, the aim for this project is to determine novel factors and mechanisms involved in human bone production which can be targeted to treat osteoporosis, using gene expression profiling and bioinformati...

ba0002p115 | (1) | ICCBH2013

Bone mineral density in late adolescence of transsexuals treated with GnRH-analogues in their teens

Klink Daniel , Caris Martine , van Trotsenburg Mick , Rotteveel Joost

Young transsexuals at a minimum age of 12 years are treated with GnRH-analogues (GnRHa) to suspend pubertal development until the addition of hormones of the desired sex is started at a minimum age of 16 years. The effect of this treatment on adult bone mineral density (BMD) is still unknown. We aimed to assess BMD at the age of 22, as this is near its peak in healthy individuals.In this prospective observational study 19 female to male (FtM) and 16 male...