Bone Abstracts

Transient receptor potential vanilloid channels (TRPVs) have been implicated in Ca2+ homeostasis and bone metabolism. In particular, TRPV4 deficiency was shown to cause sexual dimorphism in bone metabolism and osteoporotic fracture risk. Cortical bone structure was reported to be altered in male TRPV4 knock-out (TRPV4−/−) mice but not in female TRPV−/− mice compared to sex-matched wildtype (TRPV4+/+) animals.To gain knowledge on t...

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 ...

Introduction: We recently showed that patients with primary Sjögren Syndrome (pSS) have significantly higher bone mineral density (BMD) in the lumbar spine and femoral neck compared with healthy controls. The majority of those patients (69%) were using hydroxychloroquine (HCQ), which may have favourable effects on BMD.Aim: To evaluate whether HCQ modulates human bone cells in vitro.Methods: Osteoblasts were differenti...

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...

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...

Biographical DetailsWim Van HulWim Van Hul is full professor of Molecular biology and genetics at the University of Antwerp, Belgium. He obtained a bachelor degree in Chemistry from the University of Louvain (Belgium) and a master degree in biochemistry. He obtained his PhD on molecular genetics in 1993 from the University of Antwerp. He started his...

Biographical DetailsM van den Heuvel-Eibrink is Associate Professor of Pediatric Oncology at the Erasmus MC/Sophia Children’s Hospital, Rotterdam, The Netherlands. She began her medical career with an MD from the University of Utrecht and following a number of years of clinical work in the pediatric oncology field completed her PhD in Rotterdam in 2001. Since 2009 Dr M van den Heuvel...

About two decades ago, evidence was generated that canonical Wnt signaling plays an important role in bone accrual mainly based on the identification of mutations in genes from the Wnt pathway resulting in extremely low or high bone mass. Since then, it became clear that genetic variation in a lot of genes from this pathway have an influence on bone mass both in a number of skeletal dysplasias as well as in the general population. This is the case for a number of wnt ligands (...

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) ...

Histomorphometric analysis is an essential technique to measure bone formation and resorption parameters. Here we present three novel open source image analysis packages that allow the rapid semi-automated analysis of histomorphometric bone resorption, osteoid, and calcein double labelling parameters.Mice were injected with calcein 5 and 2 days before killing. Tibia and vertebrae were fixed in formalin, embedded in methylmethacrylate and the blocks secti...