Results 41 to 50 of about 1,671 (162)

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Primary Chest Wall Ewing Sarcoma With Diaphragmatic Invasion in an Adult: En‐Bloc Resection and Polypropylene Mesh Reconstruction

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Chest‐wall Ewing sarcoma (CWES) is uncommon in adults and often abuts vital thoracic structures, making R0 resection challenging despite gains with multimodal therapy. A 46‐year‐old Arab male presented with year‐long right‐sided chest pain, weight loss, and a firm mass over the lower right ribs.
Mohammad Alaa Aldakak, Ahmad Al‐Bitar, Raneem Ahmad, Hamza Alhallaq, Kinda Assoud, Hussain Chaban   +5 more
wiley   +1 more source

Multiple Distal Femoral Osteochondromas Encasing Popliteal Neurovascular Bundle

Cureus, 2023
Multiple hereditary exostosis syndrome is a rare diagnosis with approximately 1:50000 incidence prevailing in males. The exostoses or osteochondromas are benign but have the potential for malignant transformation in 1-5%. There is a strong genetic component, with exostosis (EXT) signaling pathways being an underlying cause.
Habeeb, Amir, Roszpopa, Jaroszlav, Arnaout, Ali, Grant, Ian, Latimer, Mark   +4 more
openaire   +2 more sources

Suspected Calvarial Hyperostosis Syndrome Causing Different Ophthalmological Signs in Two Young Labrador Retrievers—Case Report

Veterinary Ophthalmology, Volume 29, Issue 1, January 2026.
ABSTRACT Objective To describe calvarial hyperostosis syndrome (CHS) as a potential and unusual cause of exophthalmos or epiphora in young dogs. Animals Studied A nine‐month‐old female intact (case 1) and a two‐year‐old male intact Labrador Retriever (case 2). Procedures Patient history, including previous treatments, was documented.
Andrea Steinmetz, Stefan Kohl
wiley   +1 more source

PIP Joint Reconstruction for Proximal Phalanx Condyle Pseudarthrosis Using an Osteochondral Graft From the Fifth Metacarpal Base: A 10‐Year Case Report

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Introduction Reconstruction methods for osteochondral defects of the proximal phalanx condyle are not well established, and data on long‐term clinical outcomes are limited. In many cases, joint preservation is abandoned in favor of arthrodesis or joint replacement.
Kazuki Imaishi, Makoto Motomiya, Mitsutoshi Ota, Naoya Watanabe, Keigo Yasui, Norimasa Iwasaki, Shashank Kaushik   +6 more
wiley   +1 more source

Spinal stenosis frequent in children with multiple hereditary exostoses

Journal of Children's Orthopaedics, 2013
Purpose Children with multiple hereditary exostoses (MHE) have numerous osteochondromas, with the most prominent lesions typically over the appendicular skeleton.
Ali Ashraf, A. Noelle Larson, Gabriela Ferski, Cary H. Mielke, Nicholas M. Wetjen, Kenneth J. Guidera   +5 more
doaj   +1 more source

Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines

eJHaem, Volume 6, Issue 6, December 2025.
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Michelle A. E. Brouwer, Arie Arensman, H. Rob Taal, Emilie P. Buddingh, Su Ming Sun, Anthon Hulsmann, Lenneke Waals‐Prinzen   +6 more
wiley   +1 more source

Musculoskeletal Diseases: Mechanisms and Therapeutic Advances

MedComm, Volume 6, Issue 12, December 2025.
Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma, Eloy Yinwang, Xupeng Chai, Fangqian Wang, Zehao Chen, Shengdong Wang, Hao Zhou, Yucheng Xue, Jiangchu Lei, Fanglu Chen, Hengyuan Li, Shixin Chen, Shenzhi Zhao, Kelei Wang, Liang Chen, Junjie Gao, Zhaoming Ye, Nong Lin   +17 more
wiley   +1 more source

HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas.

PLoS ONE, 2012
Multiple Osteochondromas (MO; previously known as multiple hereditary exostosis) is an autosomal dominant genetic condition that is characterized by the formation of cartilaginous bone tumours (osteochondromas) at multiple sites in the skeleton ...
Malgorzata I Wiweger, Zhe Zhao, Richard J P van Merkesteyn, Henry H Roehl, Pancras C W Hogendoorn   +4 more
doaj   +1 more source

An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis‐Associated Pathway in the POIKTMP Syndrome

Journal of Cellular and Molecular Medicine, Volume 29, Issue 19, October 2025.
ABSTRACT Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (POIKTMP) is a rare hereditary disorder caused by mutations in the FAM111B gene, characterised by multi‐organ fibrosis, particularly affecting the lungs. This study investigates the molecular mechanisms of fibrosis in POIKTMP through genotyping and gene expression profiling ...
Nadine Tambwe, Musalula Sinkala, Oluwafemi G. Oluwole, Nonhlanhla P. Khumalo, Afolake Arowolo   +4 more
wiley   +1 more source