Bone Abstracts

Background: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by increased bone fragility and low bone mass. The different types of OI may be distinguished by their clinical features and the causative genes, with COL1A1 and COL1A2 genes as the most frequent. The guidelines for OI genetic diagnosis first recommends the screening of COL1A1 and COL1A2 genes using Sanger sequencing. However, this method has li...

Bone metabolism disorders and hypercalcemia occur often in kidney transplant recipients.In 59 kidney recipients (aged 22–74 years, creatinine clearance > 50 ml/min) who were hypercalcemic on more than three consecutive previous visits, the following serum parameters were estimated 1–147 months posttransplant: iPTH, Ca total and ionized, Pi, total and bone alkaline phosphatase, crosslaps, 25(OH)D3, cyclosporine/tacrolimus trough levels. Urin...

We recently observed an increased risk for vertebral fractures (VF) in a randomized controlled trial comparing the analgesic effect of vertebroplasty (VP) vs conservative treatment (CT) in symptomatic VF. The aim of the present study was to evaluate the risk factors related to the development of VF after VP in these patients.Methods and results: We evaluated risk factors including age, gender, bone mineral density, the number, type and severity of verteb...

In a recent randomized controlled trial comparing vertebroplasty (VP) vs conservative treatment (CT) in patients with symptomatic vertebral fractures (VF) we observed the development of severe chronic back pain (CBP) in nearly one quarter of patients. The aim of this study was to evaluate the risk factors related to the development of CBP in these subjects.Methods: We evaluated risk factors including: visual analog scale (VAS) at baseline and during the ...

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Emerging evidence suggests that miRNAs (miR) can modulate a complex gene network in a cell-intrinsic and non-cell autonomous manner. We previously identified by transcriptomic analysis miR-192 to be heavily downregulated in different highly metastatic subpopulations (HMS) isolated from bone metastases in a lung cancer mice model, but its mechanistic contribution to the prometastatic activity remains unknown.To delineate the pleiotropic functions elicited...

Background: We identified a family with early onset X-linked osteoporosis and fracturesMethods: We performed whole exome sequencing of the X chromosome in three affected members. After discovering a putative pathogenic variant we performed Sanger sequencing of all exons of this gene in other members of this family and in 95 unrelated men suspected of OI type I without COL1A1/2 mutations. We also genotyped a SNP in this gene (minor allele frequency 0.02) ...