Results 21 to 30 of about 713 (172)

Rib osteochondroma with intraspinal extension and cord compression in chlidren: case report and literature review [PDF]

Frontiers in Pediatrics
ObjectiveTo report a rare case of costal osteochondroma resulting in spinal cord compression in a 5-year-old patient, and to review the existing literature on costal osteochondromas.MethodsA retrospective review was conducted on a case involving a 5-year-
Weihua Ye, Guanghui Zhu, Zheng Liu
doaj   +2 more sources

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate [PDF]

Genetics and Molecular Biology, 2021
Hereditary multiple exostoses (HME) is a rare skeletal disorder characterized by the formation of multiple benign cartilage-capped tumors, usually in the metaphyseal region of the long bones.
Caixia Xian, Mingwei Zhu, Tianying Nong, Yiqiang Li, Xingmei Xie, Xia Li, Jiangui Li, Jingchun Li, Jianping Wu, Weizhe Shi, Ping Wei, Hongwen Xu, Ya-ping Tang   +12 more
doaj   +2 more sources

A child having rare Hereditary Multiple Exostosis with Covid-19 disease: A case study [PDF]

, 2022
: Hereditary Multiple Exostosis is a rare bone disease in pediatric age group. It is an autosomal dominant disorder, characterized by excessive bony overgrowth arising from lateral aspect of metaphysis of long bone, covered by a cartilaginous cap.
Hasnat, F, Rahman, Kazi Lutfar, Taher Anne, R, Tazia Tonny, R   +3 more
core   +2 more sources

Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands

American Journal of Medical Genetics Part A, Volume 191, Issue 6, Page 1570-1575, June 2023., 2023
Abstract Hereditary multiple exostoses (HME), also known as hereditary multiple osteochondroma (HMO), is an autosomal dominant disorder caused by pathogenic variants in exostosin‐1 or ‐2 (EXT1 or EXT2). It is characterized by the formation of multiple benign growing osteochondromas (exostoses) that most commonly affect the long bones; however, it may ...
Daniah Albokhari, Christopher R. Bailey, Francis Hwang, Clifford R. Weiss, Jonathan Forsberg, Nara Sobreira   +5 more
wiley   +1 more source

Regulatory role of human fibrocartilage stem cells in condyle osteochondroma

Cell Proliferation, Volume 56, Issue 1, January 2023., 2023
This study reports that human fibrocartilage stem cells are the potential cell‐of‐origin of condylar osteochondroma. Activated PI3K/AKT signalling pathway regulates cell apoptosis of hFCSCs and further affects stem cell function, which leads to cartilage pathological disorder and hypertrophy.
Qing Yin, Ruiye Bi, Haohan Li, Qianli Li, Peiran Li, Ruiyu Wang, Songsong Zhu   +6 more
wiley   +1 more source

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

Molecular Genetics &Genomic Medicine, Volume 10, Issue 3, March 2022., 2022
Our study establishes the pathogenesis of the splicing mutation EXT1 c.1056 + 1G > T to hereditary multiple exostosis and provides scientific foundation for accurate diagnosis and precise medical intervention for HEM. Abstract Background Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of ...
Jianwei Li, Zhiqiang Wang, Yaxin Han, Chengfang Jin, Dalin Cheng, Yong‐An Zhou, Junping Zhen   +6 more
wiley   +1 more source

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole‐exome sequencing

Journal of Clinical Laboratory Analysis, Volume 35, Issue 9, September 2021., 2021
Abstract Background Hereditary multiple exostoses (HME), also referred to as multiple osteochondromas, is an autosomal dominant skeletal disease characterized by the development of multiple overgrown benign bony tumors capped by cartilage and is associated with bone deformity, joint limitation, and short stature.
Mei Yang, Hanbing Xie, Bocheng Xu, Qinqin Xiang, He Wang, Ting Hu, Shanling Liu   +6 more
wiley   +1 more source

Hereditary Multiple Exostoses and Orthopaedist- Till the Plausible Management Evolves [PDF]

Journal of Clinical and Diagnostic Research, 2019
Introduction: Hereditary Multiple Exostoses (HME) is an inherited genetic skeletal disorder of enchondral bone. It is an autosomal dominant disorder affecting juxtaepiphyseal region of the long bones and includes multiple exostoses.
Pankaj Kumar Mishra, Amol Dubepuria, Sanjiv Gaur   +2 more
doaj   +1 more source

Arthroscopic removal of a solitary osteochondroma interfering with the podotrochlear apparatus in a foal

Veterinary Surgery, Volume 50, Issue S1, Page O128-O137, July 2021., 2021
Abstract Objective To report the diagnostics, surgical treatment, and outcome of a juvenile foal with solitary osteochondroma (SO) interfering with the podotrochlear apparatus. Study design Case report Animal One 36‐day‐old Arabian colt. Methods Clinical, radiographic, ultrasonographic, computed tomographic, and histopathologic examinations were ...
Machiel P. Ysebaert, Jessica P. Johnson, Ghazanfar Abbas, Paulo Henrique Cavalcante, Rodney King, Masa Oikawa, Sarah Puchalski, Florent David   +7 more
wiley   +1 more source

Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. [PDF]

PLoS ONE, 2014
Exotosin (EXT) proteins are involved in the chain elongation step of heparan sulfate (HS) biosynthesis, which is intricately involved in organ development.
Sophie J Bernelot Moens, Hans L Mooij, H Carlijne Hassing, Janine K Kruit, Julia J Witjes, Michiel A J van de Sande, Aart J Nederveen, Ding Xu, Geesje M Dallinga-Thie, Jeffrey D Esko, Erik S G Stroes, Max Nieuwdorp   +11 more
doaj   +1 more source