Bone Abstracts

Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.Methods: Data from 101 subjects (recruited from 2...

Vitamin D deficiency in pregnancy is common, and is linked to increased risk of adverse outcomes including preterm birth, preeclampsia, infection, gestational diabetes and asthma. Vitamin D possesses well-recognized immunomodulatory functions, and programming of the immune system during foetal development can influence asthma-related risk factors and health outcomes in later life. We hypothesized that influencing vitamin D status during pregnancy would impact the immune profil...

Objective: FOP is a rare, severely disabling disease characterized by episodic flare-ups and accumulation of heterotopic ossification (HO) leading to restricted movement, physical disability, and early death. Data from two Phase 2 interventional studies and one natural history study (NHS) were used to evaluate whether palovarotene could reduce HO following an FOP flare-up.Methods: HO volume at the flare-up site was determined by CT at baseline and 12 wee...

Osteosarcoma is the most common primary malignant bone tumor, characterized by osteoid production and/or osteolytic lesions of bone. A lack of response to chemotherapeutic treatments points out the importance of exploring new therapeutic ways. Imatinib Mesylate (Glivec, Novartis Pharma), a tyrosine kinase inhibitor, has been originally developed for the treatment of chronic myeloid leukemia. Several studies revealed that Imatinib Mesylate inhibits osteoclast differentiation th...

Background: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare inflammatory bone disease characterized by chronic non-infectious osteomyelitis. Spinal involvement has been reported in up to 26% of patients (1). Three studies evaluated the effect of Pamidronate (PAM) on spinal lesions in pediatric patients with CRMO (1, 2, 3) and showed partial or complete resolution of vertebral hyperintensities on MRI (1). However, the effect of Zoledronic acid (ZOL) in pediatric pat...

In rural Gambian prepubertal children with low calcium intakes (mean 300 mg/day) we reported positive effects, sustained for at least a year (y), on bone mineral content (BMC) after 12 months supplementation with calcium carbonate to international levels1,2. The group was followed up regularly until the end of height growth, and supplementation did not affect height growth in the girls3. Our aim was to determine whether the supplementation altered the tim...

Biogenesis and function of microRNAs can be influenced by genetic variants in the pri-miRNA sequences leading to phenotype variability. The aim of this study was to identify osteoporosis-related SNPs by affecting the expression levels of mature microRNAs.The first approach was to perform an association analysis of putative functional SNPs located in pri-miRNA sequences of bone-related microRNAs with the lumbar spine and femoral neck (FN) bone mineral den...

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...

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) ...

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...