Bone Abstracts

Objectives: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. This pilot study aims to apply novel imaging techniques to asses the musculoskeletal phenotype of XLH patients by bidirectional axial transmission (BDAT) ultrasound, magnetic resonance spectroscopy (MRS) and high resolution peripheral quantitative computed tomography (HR-pQCT).Methods: BDAT bone ultrasound of the radius and...

Introduction: The prospective, single-arm, open-label ZOTECT study was designed to assess the effect of zoledronic acid (ZOL) on bone-marker levels and potential correlations with disease outcomes in bisphosphonate-naive patients with bone metastases.Methods: Patients with bone metastases from prostate cancer (PC; n=301) or breast cancer (BC; n=99) who have not received bisphosphonates for ≥6 months were enrolled at 98 sites in Ge...

Background: Progressive osseous heteroplasia (POH) (OMIM 166350) is a rare autosomal dominant condition, characterized by heterotopic ossification of the skin, subcutaneous fat and deep connective tissue. This condition is distinct from Albright’s hereditary osteodystrophy or Mccune–Albright syndrome (AHO) (OMIM 103580) and fibrodysplasia ossificans progressiva (FOP) (OMIM 135100).Presenting problem: We present an unu...

Low circulating levels of total 25-hydroxyvitamin D (25OHD) have been reported in obese people of different ethnicities in several countries. Low total 25OHD in obesity could be due to lower binding proteins (with normal free 25OHD), lower dietary intake or sunlight exposure, greater volume of distribution (pool size) or more rapid metabolic clearance.The aims of this study were to determine if free 25OHD and 1,25-dihydroxyvitamin D (1,25(OH)2...

Mutations in the C-propeptide cleavage site of both COL1A1 and COL1A2 cause dominant high bone mass (HBM) osteogenesis imperfecta (OI), characterized by bone hypermineralization. To elucidate the role of C-propeptide processing in bone formation, we generated heterozygous HBM mice in which both residues of the COL1A1 cleavage site were mutated to prevent cleavage by BMP1. HBM mice are smaller than WT in both weight and length and have extremely brittle bones....

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Abnormal tissue levels of certain trace elements such as Zinc (Zn) were reported in various types of cancer. Little is known about the role of Zn in osteosarcoma.Using confocal synchrotron radiation micro X-ray fluorescence analysis, we characterized the spatial distribution of Zn in high-grade (G3) sclerosing osteosarcoma of nine patients (4 f/5 m; 7 knee/1 humerus/1 femur) following chemotherapy and wide surgical resection. The study was done in accord...

miRNAs are epigenetic regulators of gene expression, increasingly recognised as prominent regulators of bone metabolism. Following our in vitro studies of miRNAs profiles in osteoblasts we extended the research to human bone samples. Our aim was to find and functionally validate miRNAs differentially expressed in osteoporotic and osteoarthrotic bone with potential for targeting genes relevant in bone metabolism.Trabecular bone tissue samples wer...

Background: Previous studies with small number of boys with Duchenne Muscular Dystrophy (DMD) suggest that growth failure occurs in glucocorticoid naïve (GC) boys.Objective: To evaluate height and longitudinal growth in boys with DMD prior to GC.Method: Retrospective evaluation in boys with DMD with height measurements obtained for clinical purposes. Out of the 91 boys currently managed in Scotland, 51 had at least one height ...

Currently available osteoporosis treatment include antiresorptives and/or anabolic agents. Studies in animals have shown that beta-hydroxy-beta-methylbutyrate (HMB) administration affects anabolically bone tissue metabolism and improves morphological, densitometric and mechanical properties of bones in axial and appendicular skeleton. Thus, the aim of the study was to present first data on effects of 61-week treatment with HMB on volumetric bone mineral density (vBMD) of lumba...