Bone Abstracts

see PP230....

OPTN encodes a cytoplasmic protein optineurin which has been shown to play a role in autophagy. Recent GWAS studies have shown that variants within OPTN are associated with the risk of Paget’s disease of bone, a disease characterized by focal areas of increased bone turnover due to increased osteoclast activity, suggesting a possible role of OPTN in the regulation of bone metabolism.The aim of this study was to investigate the role of optineurin in ...

The chronic use of glucocorticoids in patients with congenital adrenal hyperplasia (CAH) may result in decreased bone mass. Therefore, using simple and accurate methods for assessing bone status in these patients could facilitate the treatment of disease. The purpose of this study was to verify the association between parameters of bone mass measured by dual energy X-ray absorptiometry (DXA) and quantitative ultrasound (QUS) of proximal phalanges in children adolescents with c...

Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan...

see PP229....

Recent GWAS have identified variants in the OPTN gene that predispose to Paget’s disease of Bone (PDB), a disease characterised by focal areas of increased bone turnover and enhanced osteoclast activity, suggesting a role for this gene in bone metabolism. The aim of this study was to investigate the role of OPTN in bone metabolism using a mouse model (OptnD477N/D477N) which harbours a D477N point mutation in the polyubiquitin binding ...

It is well-established that in vitro differentiation of embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) can recapitulate embryonic development through germ layer induction, enrichment and expansion of specific lineages. We have used PSC technology and developed a novel, mESC differentiation system for investigating the mechanisms of chondrocyte and osteoblast lineage commitment and differentiation. This step-wise, serum-free protocol uses specif...

Purpose: Systemic sclerosis (SSc) is a rare inflammatory rheumatic disease that has been associated with an increased risk of low bone mineral density (BMD). However, data on risk factors associated with bone loss in SSc are scarce. The objective of this study was to investigate the prevalence of and the risk factors for low BMD in patients with SSc.Methods: Cross-sectional data of 61 patients with SSc were collected. BMD in the lumbar spine, total hip a...

Areal bone mineral density (aBMD) of the PA spine and proximal femur remained the gold standard for WHO classification of osteoporosis, fracture prediction and patient monitoring. Unfortunately, with age it is not infrequent to observe the presence of degenerative disease such as spinal osteoarthritis which would have a positive artifactual impact on aBMD which could lead to an erroneous interpretation. In a previous study it has been demonstrated that apparently such artifact...

see P487....