Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas. Enchondromas are benign cartilaginous tumors arising in the medulla of bone. The mutant IDH1/2 causes elevated levels of D-2-hydroxyglutarate (D-2-HG). Mesenchymal stem cells (MSC) are the precursor of the osteoblastic, chondrogenic and adipocytic lineage and we ...

The aim of the present work is to make a review on the literature concerning the incidence of some major pathologies of leg skeleton in broiler chickens and broiler breeders, related to poor animal welfare. On the basis of data on the incidence of leg skeletal pathology published by us and by other researchers, this review goes through some reports on femoral head necrosis (FHN), tibial dyschon...

BACKGROUND Ollier disease is a rare, non-hereditary disorder which is characterized by the presence of multiple enchondromas (ECs), benign cartilaginous neoplasms arising within the medulla of the bone, with an asymmetric distribution. The risk of malignant transformation towards central chondrosarcoma (CS) is increased up to 35%. The aetiology of Ollier disease is unknown. METHODS We underto...

Osteochondroma is the most common bone tumor seen in children [6,22,59]. This cartilage-capped exostosis is found primarily at the juxta-epiphyseal region of the most rapidly growing ends of long bones [59,78]. The true prevalence is not known since many patients with asymptomatic lesions are never diagnosed. A unique subset of patients, however, suffers from hereditary multiple exostosis (HME)...

INTRODUCTION Hereditary multiple exostoses (HME) or osteochondromatosis is a rare autosomal dominant disease characterized by multiple osteochondromas and skeletal deformities. PATIENT CONCERNS & DIAGNOSES We present the case of a 5 years and 9 month-old patient who presented with inferior limb pain for approximately 6 months, associating also deformity of the right index finger for a month. ...

Differences in serum protein profiles were analyzed to identify possible biomarkers associated with a poultry leg problem named tibial dyschondroplasia (TD) that can lead to lameness. A bead-based affinity matrix (ProteoMiner TM ) containing a combinatorial library of hexapeptides was used to deplete high abundant proteins and enrich the less abundant ones to compare between the sera of six-wee...

Although the CpG island methylator phenotype (CIMP) was first identified and has been most extensively studied in colorectal cancer, the term "CIMP" has been repeatedly used over the past decade to describe CpG island promoter methylation in other tumor types, including bladder, breast, endometrial, gastric, glioblastoma (gliomas), hepatocellular, lung, ovarian, pancreatic, renal cell, and pros...

Extracellular matrix mineralization is an essential physiologic process in bone, teeth, and hypertrophic cartilage. Matrix Gla protein (MGP), an inhibitor of mineralization, is expressed by chondrocytes and vascular smooth muscle cells to inhibit calcification of those soft tissues. Tibial dyschondroplasia (TD), a skeletal abnormality apparent as a plug of non-vascularized, non-mineralized, whi...

To cite: Ozyurek S, Atik A, Sivrioglu AK, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013009046 DESCRIPTION A 35-year-old man presented with an 18-month history of chronic left ankle pain and swelling. The pain was a dull ache and present throughout the day. On examination, there was swelling of the left ankle, more anteriorly, with palpable loose bodi...

The association of dyschondroplasia with haemangiomata is a rare condition first described by Maffucci in 1881. Of the two components of the syndrome, the dyschondroplasia is identical with Oilier’s disease and the vascular abnormalities in the form of cavernous haemangiomata and phlebectasia appear to be coincidental. Carleton, Elkington, Greenfield and Robb-Smith (1942) reviewed eighteen case...