Bone Abstracts

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) ...

Patients with chronic inflammatory diseases such as psoriasis are at high risk for developing osteoporosis. Psoriatic arthritis patients exhibit bone loss caused by increased bone resorption through activation of osteoclasts. However, it is not clear whether psoriasis can lead to bone loss in the absence of arthritis. Using mouse models with skin inflammation as well as psoriasis patient samples, we show that increased circulating IL-17A from the inflamed skin triggers bone lo...

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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...

Mesenchymal cells alter and retain their phenotype during skeletal development through activation or suppression of signaling pathways. For example, we have shown that Wnt3a only stimulates osteoblast differentiation in cells with intrinsic osteogenic potential (e.g., MC3T3-E1 pre-osteoblasts) and not in fat cell precursors or fibroblasts (respectively, 3T3-L1 pre-adipocytes or NIH3T3 fibroblasts). Wnt3a promotes osteogenesis in part by stimulating autocrine production of the ...

Bisphosphonates (BPs) are used to treat bone diseases characterized by excessive bone resorption. However, BPs can negatively affect the jaw bone by causing osteonecrosis of the jaw. Previously, we showed that BPs differently affect long-bone and jaw osteoclast precursors. Administration of BPs in vivo reduced the number of jaw bone marrow cells, without affecting long-bone marrow cells. Yet, BPs increased bone volume and mineral density of both long bone and jaw. Her...

Background: Bone marrow (BM) adiposity is inversely related to bone mineral density and increases with ageing and menopause. We previously observed that the variation in BM fat fraction was more pronounced in premenopausal women compared to men and postmenopausal women. We hypothesized that the variation in BM fat fraction in premenopausal women is associated with hormonal variations during the menstrual cycle.Objective: To investigate the dynamic change...

Objective: This multi-objective prospective observational study is intended to examine treatment patterns, occurrence of gastrointestinal (GI) complications and clinical and health outcomes in post-menopausal women with osteoporosis (OP) in Europe and Canada. This abstract presents the baseline results of the treated population.Materials and methods: Post-menopausal osteoporotic women currently on treatment completed surveys intended to measure the incid...

Objective: This multi-objective prospective study (MUSIC-OS) is intended to examine treatment patterns, occurrence of gastrointestinal (GI) complications and clinical and health outcomes in post-menopausal osteoporotic (OP) women in Europe and Canada. Surveys were administered to both physicians and patients as part of the MUSIC-OS study to document reasons for undertreatment in OP from both physician and patient perspectives.Materials and methods: A phy...