Bone Abstracts

Background: Since Microcephalic osteoplasic dysplasia; Saul Wilson Syndrome (SWS) was first reported by Saul and Wilson in 1990 only 14 cases have been reported worldwide. In 2018 Ferreira et al identified the pathophysiological mechanism for SWS as a recurrent De Novo Heterozygous COG4 Substitution.Objective: To describe the diagnostic process in a case of SWS.Presenting problem: The patient is the first-born child of healthy, non...

Biographical DetailsDr C Wilson received a PhD in Epidemiology from the University of New South Wales, Australia, in 2008 for research focusing on the late complications of anti-cancer therapies among individuals diagnosed with childhood cancer. She then worked for a short time as study coordinator for the New South Wales Childhood Cancer Survivor Study before coming to work in the Depart...

It is hypothesized that osteocytes regulate bone adaptation by sensing mechanical strains in their microenvironments and signaling net bone formation or resorption. Owing to bone’s anisotropic architecture, individual osteocytes within a bone experience varying strains under mechanical loading. Thus, to accurately determine the relationships between mechanical strain, osteocyte behavior, and bone remodeling, it is crucial to use a single-cell approach. Using an in viv...

Improvements in diagnosis, multi-modal therapy and supportive care over the past several decades have resulted in substantial reductions in mortality rates for childhood cancer. Approximately 80% of children diagnosed with cancer are now expected to survive for at least 5 years after initial diagnosis. Nevertheless, improvements in survival rates have not come without cost, with survivors at risk of skeletal morbidities as a result of disturbances in normal bone metabolism dur...

Background: LRP4 gene encodes a member of the LDL receptor gene family, expressed by osteoblasts, which negatively regulates Wnt/β-catenin signalling by potentiating the inhibitory effect of sclerostin on LRP5 signalling. Previously, missense mutations of LRP4 have been described in patients with the phenotype of sclerosteosis, a disease associated with high bone mass and bone overgrowth. Here we investigated the hypothesis the LRP4 mut...

Background: Breast cancer clinical trials have shown an enhanced anti-tumour activity of bone-targeted agents in postmenopausal patients. We have reported that zoledronic acid (ZOL) decreases serum levels of the tumour promoter follistatin in postmenopausal women and also inhibits expression of follistatin by breast tumour cells both in vitro and in vivo. We hypothesised that inhibin-A (InA) and ZOL may be altering bone levels of follistatin and its bound tum...

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Introduction: Osteoporosis and fragility fractures are recognized complications of rheumatoid arthritis (RA). Previously Riches et al. described a patient with celiac disease and severe osteoporosis in whom neutralizing antibodies to osteoprotegerin (OPG) were present. The aim of this study was to determine if OPG autoantibodies were present in patients with RA and other rheumatic diseases and to relate these to clinical features.Methods: We dev...

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...

Background: Hyperphosphatasia may be seen in liver disorders or metabolic bone disease with the most common cause likely to be Vitamin D deficiency. However, we report the case of child who had high ALP levels from infancy along with intellectual retardation. Genetic testing revealed Mabry Syndrome.Presenting problem: At birth, a micrognanthia and a cleft palate was apparent. She went to have developmental delay, impaired vision, and was wheelchair depen...