Bone Abstracts

Objectives: This study aims to evaluate and compare the preferences of patients and health care professionals for osteoporotic drug treatment.Materials and methods: A discrete choice experiment was conducted among patients and health care professionals (general physicians, rheumatologists, and geriatricians) in Belgium. Participants were asked to choose between two hypothetical unlabelled drug treatments (and an opt-out option) that vary in several attri...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. Data from adult ADPKD population show increased fibroblast growth factor 23 (FGF23) levels while circulating Klotho levels decrease, with a low TmP/GFR even in patients with normal renal function. Moreover, in ADPKD animal models, cyst lining renal cells were demonstrated to produce FGF23, although the animals displayed FGF23 resistance. No data are available in a paediatr...

Signaling pathways crucial in bone development, including Wnt, are also upregulated in breast cancer cells to promote tumor growth in the skeleton, a process known as osteomimicry. Thus, we hypothesized that bone metastatic tumor cells also aberrantly express osteogenic miRNAs to support osteomimetic properties. We have previously shown that miR-218 is highly expressed in osteoblasts and promotes osteogenic differentiation. Interestingly, expression analysis revealed a signifi...

The R-spondins are a family of four small, secreted agonists of the Wnt signaling pathway. Growing evidence from both in vitro studies and in vivo models supports the major role of these proteins in the skeletal development processes. In humans, common genetic variation in the RSPO3 gene has been associated with BMD in large scale GWAS study.This study aimed at further investigation of the genetic and functional contributions of the R-s...

Few interventions directly compare equivalent calcium and vitamin D from dairy vs supplements on the same bone outcomes.Objectives and Methods: Using 41Ca tracer techniques, determine if 4 servings/d of dairy foods reduces Ca excretion more than an equivalent amount of Ca and vitamin D from supplements. Secondary objective was to evaluate the time course for change in Ca excretion.Design: In this crossover trial, postmen...

Aim: Human gut microbiota is an important determinant of health and disease. Discoveries from recent microbiome studies have been postulated as actionable targets to treat malnutrition, diabetes, obesity among other conditions. The role of the gut microbiome on the development of the human musculoskeletal system is yet to be established. The aim of our study was to investigate the association between bacterial operational taxonomic units (OTUs) of the gut in relation to bone m...

Background: Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat and deep connective tissue. This condition is distinct from Albright’s hereditary osteodystrophy or Mccune–Albright syndrome (AHO) (OMIM 103580) and fibrodysplasia ossificans progressiva (FOP) (OMIM 135100).Presenting problem: We present an unu...

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) ...

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Few drugs generate bone-stimulatory effects via epigenetic mechanisms. Modulation of CpG-residues hydroxymethylation in gene-promoters of key osteoblast-related factors (e.g., DLX5) induces their expression and increases osteoblast differentiation in vitro. The chemical properties of sulforaphane (SFN), a natural compound abundantly present in cruciferous vegetables like broccoli, suggest that it may have similar molecular and biological effects. Previous stu...