Bone Abstracts

Objectives: Osteogenesis Imperfecta (OI) is a heritable brittle bone disease mainly caused by mutation of COL1A1 or COL1A2. Treatment with bisphosphonate is not effective enough in patients with severe OI. 4-phenylbutyric acid (4-PBA) may become a new medicine, which was reported to ameliorate the phenotype of an OI zebrafish model. In the present study, we aimed to analyze the pathology of OI and the effects of 4-PBA on patient-derived fibroblasts and induced pluripotent stem...

Introduction: Dentinogenesis imperfecta (DI) is a common dental aberration in patients with osteogenesis imperfecta (OI). Mutations that cause abnormal collagen chains will cause more serious types of OI and it has been claimed that DI should be a marker for qualitative defected collagen. It has also been supposed that normal development of teeth may be more dependent on normal α2(I) than normal α1(I) chains which are encoded by COLIA2 and COLIA1 ge...

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder which mainly affects the collagen in the bone mass with fractures and deformities as the main symptoms. In OI there is a great variation in dysfunction related to the disease. Mobility and activities related to mobility are often most difficult. The objective for this study was to find a relevant, valid and reliable instrument to assess the children’s activity capability.Method and par...

Objective: Investigate bone mineral density in children with cerebral palsy (CP) with special focus on severe forms of CP.Methods: Investigation encompassed 23 children, both genders, between 6 and 17 years of age, with diagnosed cerebral palsy, who were hospitalized between January 1 and December 31, 2014. Bone mineral density (BMD) was established using Dual-energy x-ray Absorptiometry – DXA method, at L1–L4 lumbar vertebrae and at the femur ...

Betaine (BET) is a component of many food. It is an essential osmolyte and a source of methyl groups. BET consumed from food sources and through dietary supplements presents similar bioavailability. BET exerts an antioxidant activity and decreases inflammation states. Dietary supplement with BET are used in many inflammation-connected pathologies, although its mechanism of action is not fully understood. Recent studies have shown that BET stimulates muscle fibers differentiati...

Bone is a complex tissue constituted by a mineral phase, hydroxyapatite, and an organic phase, mainly represented by collagen type I. Specialized cells are responsible for bone formation and remodeling. Osteoblasts represent the bone forming cells, osteocyte are the orchestrator of bone remodeling through regulation of the other bone cells activity, by functioning as endocrine cells and by acting as mechanosensor, and osteoclasts, the bone resorbing cells. Mesenchymal osteopro...

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Hip and forearm fractures are the two clinically most important non-vertebral fractures. Twin studies have demonstrated a high heritability of these fractures and the heritable component of fracture risk is largely independent of BMD.To identify common genetic variants associated with hip and forearm fractures, we performed a genome-wide association study (GWAS ~ 2.5 million SNPs) meta-analysis of two large fracture data sets within the well-characterize...

Background and aims: Bone turnover markers (BTMs) are used in clinical practice for assessing patients with osteoporosis and their treatment. In Spain it is necessary to fine-tune the reference intervals, since they were established years ago in a low number of individuals. The aims of this study were to establish robust reference intervals for BTMs in healthy young premenopausal Spanish women and to investigate the factors influencing BTMs.Methods: 185 ...

Biogenesis and function of microRNAs can be influenced by genetic variants in the pri-miRNA sequences leading to phenotype variability. The aim of this study was to identify osteoporosis-related SNPs by affecting the expression levels of mature microRNAs.The first approach was to perform an association analysis of putative functional SNPs located in pri-miRNA sequences of bone-related microRNAs with the lumbar spine and femoral neck (FN) bone mineral den...