Bone Abstracts

Background: Asian-specific prediction model for estimating the individual risk of osteoporotic fracture was rare. We aimed to develop a Korean fracture risk prediction model using clinical risk factors and assess external validity of the final model.Methods: A total of 718,306 Korean men and women aged 50–90 were followed for 7 years in national system based cohort study. Fifty percent were randomly assigned to the development dataset and 50% to the...

The concept of the vicious cycle of bone metastases emphasizes the cross-talk between osteoclasts, osteoblasts and tumor cells, but the role of bone marrow stromal cells (BMSCs) is not well delineated. BMSCs comprise of a fibroblast-like cell population which adhere to culture flask and have an ability to differentiate into osteoblasts, adipocytes and chondrocytes. They express a panel of cell surface antigens which includes CD105, CD73, CD90, CD106, and CD146. In this study w...

Background: Severe vitamin D deficiency (VDD), is a common disorder, which has complications including rickets, hypocalcaemia, hypotonia, delayed development and cardiomyopathy. Although nutritional rickets associated craniosynostosis has been reported, there is little awareness of this or knowledge about its clinical course or severity. We present five cases of late onset craniosynostosis in association with nutritional rickets.Clinical presentation: Th...

Short stature and osteoporosis are common in DMD. Disease progression can be slowed by glucocorticoids but these are associated with further growth retardation and skeletal fragility. The defect in growth and skeletal development in children with DMD is probably multifactorial and not solely dependent on glucocorticoid exposure. The muscular dystrophy x-linked (mdx) mouse is the most commonly used animal model of DMD. However, its growth phenotype has not been studied...

Objectives: FGF23 is expressed in clusters of osteocytes at the trabecular periphery suggesting that FGF23-expressing osteocytes are confined to specific basic multicellular units (BMUs) at the trabecular surface. Higher numbers of FGF23-expressing osteocytes are found in chronic kidney disease (CKD) patients with preserved skeletal mineralization indices. We thus combined immunohistochemistry and quantitative backscattered electron imaging (qBEI) to explore the hypothesis tha...

Background: There is significant inter and intraobserver variability in diagnosing vertebral fractures in children. We aimed to evaluate the diagnostic accuracy of morphometric vertebral fracture analysis (MXA) using a 33-point software programme designed for adults, on dual-energy x-ray absorptiometry (DXA) images of children.Methods: Lateral spine DXA images of 420 children aged between 5 and 18 years were retrospectively reviewed. Vertebral fracture a...

Objectives: From late 2015 a new protocol for zoledronic acid was adopted in our centre. This led to many children changing from pamidronate (PAM) to zoledronic acid (ZA) treatment. In a minority of cases the children and/or their families felt strongly that they wanted to change back to PAM. We present the characteristics of that minority and how bone turnover markers (BTMs) and bone mineral densities (BMD) changed whilst on ZA.Method: From Nov 2016 to ...

Background: Stuve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life.Most SWS cases do not survive beyond the first y...

Autosomal dominant osteopetrosis type II (ADO2) is a rare osteosclerotic disease due heterozygous missense mutations of the CLC7 gene encoding the type seven chloride channel. Our two labs independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. Homozygous mice showed lack of tooth eruption and died within 30 days of age with severe osteopetrosis and central nervous system degenera...

Autosomal dominant type II osteopetrosis (ADO2) is a rare osteosclerotic disorder due to heterozygous missense mutations of CLC7 gene encoding the type 7 chloride channel. Our two labs (L’Aquila and Indianapolis) independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. We created pG213R-clc7 KI mice using a gene targeting approach. Homozygous mice showed lack of tooth eruption and died within ...