Bone Abstracts

Background and aims: Bone and joint infections like osteomyelitis and septic arthritis occur in ~3–12/100.000 children per year in high-income countries with predominance in males. The most common causative pathogen is Staphylococcus aureus, however, only in 50% pathogen detection succeeds. The aim of this study is to describe clinical characteristics of osteomyelitis and septic arthritis in children recruited within the EUCLIDS network (<a href="http://www.eucli...

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...

Background: Paget’s disease of Bone (PDB) has a strong genetic component and a candidate locus for the disease has been identified on chromosome 14q32, tagged by rs10498635 located within RIN3 (Albagha et al, Nat Genet 2011). RIN3 encodes a protein that acts as a guanine nucleotide exchange factor for Rab5b and Rab31. Here we investigated the candidacy of RIN3 as a predisposing gene for PDB.Methods: We studied expression of RIN3 by quantita...

Hypophosphatemic rickets (HR) is a type of bone disorder that causes skeletal deformities due to reduced renal phosphate reabsorption that affect bone mineralisation. Defect on PHEX, DMP1 and FGF23 causes x-linked dominant, autosomal recessive and autosomal dominant HR respectively. The aim of this study was to identify the underlying genetic mutations in PHEX, DMP1 and FGF23 in a 15-year-old female who exhibits the clinica...

Background: Osteogenesis imperfecta (OI) is a rare disease characterized by increased fracture rate and bone deformities. Patients are classified by phenotype and most are affected by mutations in COL1A1/2.Patients with OI type V present with specific clinical symptoms including hyperplastic callus formation, only mildly decreased height, metaphyseal lines and a calcification of the membrane interossea of the forearm. The disease causing mutation for OI ...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of disorders characterized by bone fragility. The current classification comprises five forms (OI types I–V) with autosomal dominant inheritance and seven rarer forms (OI types VI–XII) with recessive inheritance. OI type V (MIM 610967) has distinguishing radiological features, such as propensity to hyperplastic callus formation, calcification of the forearm interosseous membrane, radial-head dislocatio...

Purpose: The aim of this research was to develop an in vivo platform for conveniently examining the potential of various factors to augment chondral bone regeneration. For this purpose, we have established a de novo partial tail amputation model in adult zebrafish, which includes the resection of cartilage-template based bones from the endoskeletal caudal complex. Endoskeletal amputations were rarely studied, as opposed to those of the distal caudal fin rays, a well-e...

The last years, diagnosis of achondroplasia benefited of the recent advances in prenatal imaging (including 3T-CD scan), and in invasive and non-invasive molecular screening.Objectives: To analyse stage/age, diagnosis procedures and outcome on a series of 64 consecutive cases of achondroplasia, in the French Centre of Reference for skeletal dysplasia, between 2008 and 2016.Methods: Confirmed achondroplasia were included in this sin...

Vertebral fractures (VF) in adults are the most common osteoporotic fracture, are powerful predictors of future fracture risk (hip X2; spine X5) and their prevalence increases as bone mineral density (BMD) declines. The most common imaging method for diagnosis is spinal radiography, but they can be identified fortuitously also on other imaging techniques performed for various clinical indications.1 Midline reformations of multi-detector CT (MDCT) scans of thorax and...

Cherubism is a rare genetic disorder characterized by extensive growth of a bilateral granuloma of the jaws, resulting in facial disfigurement.Histologically, the lesions consist of a fibrotic stroma with osteoclastic-like multinuclear giant cells (MGC). Cherubism is caused by gain-of-function mutations in the SH3BP2 protein. SH3BP2 is an intracellular adaptor protein positively regulating the activity of the nuclear factor of activated T-cells c1 (NFATc...