Bone Abstracts

Background: Paget’s disease of Bone (PDB) has a strong genetic component and a candidate locus for the disease has been identified on chromosome 14q32, tagged by rs10498635 located within RIN3 (Albagha et al, Nat Genet 2011). RIN3 encodes a protein that acts as a guanine nucleotide exchange factor for Rab5b and Rab31. Here we investigated the candidacy of RIN3 as a predisposing gene for PDB.Methods: We studied expression of RIN3 by quantita...

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The vicious cycle established between bone associated tumors and bone resorption is the central problem with therapeutic strategies against primary bone tumors and bone metastasis. The bromodomain and extra-terminal domain (BET) protein family is an important class of ‘histone reading protein’ capable to recognize the N-acetylation of lysine residues on histone tails. BET bromain proteins have recently been described as regulators of MYC expression in various tumors....

Background: Hypercalcaemia secondary to malignancy is rare in children and adolescents. Parathyroid hormone related peptide (PTH-rP) secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report two cases of hypercalcaemia of malignancy refractory to treatment with pamidronate and corticosteroids but responsive to treatment with Denosumab and Zoledronic acid.Case 1: Presenting problem: A 17-year-old b...

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Breastfeeding women resorb trabecular bone to supply much of the calcium content of milk. Few studies have examined the speed and extent of BMD recovery after weaning, or the factors that predict a greater post-lactation increase in BMD. We hypothesize that weight-bearing, nutrition, hormones, and other factors facilitate bone formation after lactation.The aims of the Factors Affecting Bone Formation After Breastfeeding Pilot Study (FABB-Pilot) were to d...

Introduction: Osteoporosis affects the bones causing weak or brittle bones and increasing the risk of fracture. Efficacy of anti-osteoporotic treatment is based on drug potency and adherence and persistence. Teriparatide (TPTD) is the first anabolic agent developed for the treatment of osteoporosis. It is usually given as a daily subcutaneous injection for a two-year treatment course.Aim: To evaluate adherence and persistence to TPTD treatment in patient...

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Osteoporotic fractures are very common and represent an enormous unmet medical need. Our group has previously reported that addition of rTNF to the fracture site promotes fracture healing in C57/BL6 mice (Glass et al. PNAS 2011). Using a murine fracture model of endochondral healing, we observed that local addition of rTNF only accelerates fracture repair if administered within the first 24 h following injury. The optimal therapeutic dose is 1 ng. TNF is firs...

The role of the WNT pathway in skeletal maintenance has been extensively studied since the identification of mutations in key signaling WNT mediators (LRP5 and sclerostin) in high and low bone mass phenotypes. However, the identity of the key WNT ligand that signals via LRP5/6 has remained unknown. We aimed to identify genes with a major effect on the skeleton by studying individuals and families with early-onset osteoporosis or osteogenesis imperfecta (OI).<p class="abste...