Results 41 to 50 of about 2,100 (157)

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

Extraskeletal osteochondroma within the iliopsoas muscle: case report

SICOT-J, 2017
Osteochondromas, occurring usually in the metaphyses of long bones, are among the most frequent benign musculoskeletal neoplasms and both their sporadic and hereditary variants have been studied extensively.
Slavchev Svetoslav, Georgiev Georgi P.
doaj   +1 more source

A Rare Site Mandibular Condyle Osteochondroma Complicated by Fracture

Journal of Nobel Medical College, 2017
Osteochondromas are most common benign bone tumor occurring at the metaphyseal region of long tubular bone but rarely seen at maxillofacial region with less than 100 cases of mandibular condyle osteochondromas reported in literature. This article reports
Manoj Bhattarai
doaj   +1 more source

Osteochondroma Arising from the Proximal Fibula: A Rare Presentation [PDF]

Journal of Clinical and Diagnostic Research, 2014
Osteochondromas are commonly encountered benign tumours and they are characterized by cartilage capped bony growths that project from the surface of the affected bone. Osteochondromas tend to grow eccentrically rather than centrifugally.
Manoj Kumar, Monika Malgonde, Pramod Jain   +2 more
doaj   +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

Osteochondroma Arising from the Thyroid Cartilage: A Case Report and Literature Review

Case Reports in Otolaryngology, 2021
Introduction. Osteochondromas are relatively common benign bone tumors often located at the metaphyseal ends of long bones; however, they are rare in the head and neck region.
Jessa E. Miller, Shaghauyegh S. Azar, Dinesh K. Chhetri   +2 more
doaj   +1 more source

Incorporating Clinical Examination Skills Into a Preclinical Anatomy Course: A Method for Facilitating Engagement and Interest

Clinical Anatomy, Volume 38, Issue 7, Page 791-795, October 2025.
ABSTRACT Anatomy instruction is enhanced when students are engaged and interested in course material, and the relevance of the subject matter to their academic success and professional careers is emphasized. We developed a learning activity for a pre‐clinical anatomy course using the clinical skills of inspection and palpation of a cadaver donor to ...
Aysha Alani, Justin O'Leary, Andrew Stieb, John P. McNamara, Michael F. Nolan   +4 more
wiley   +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

The Pathophysiological Functions of Heparanases: From Evolution, Structural and Tissue‐Specific Perspectives

The FASEB Journal, Volume 39, Issue 17, 15 September 2025.
Heparanase 1 (HPSE1) and Heparanase 2 (HPSE2) exhibit opposing expression patterns and functions in pathological contexts, such as cancer. Here, we describe their specific expression in immune cells and their implications in skin diseases. Although they are structurally similar and considered to be ‘cousins’, we found no common ancestor and that HPSE2 ...
Elham Vahdatahar, Clément Daviaud, Hugo Main, Rachel Havret, Claire Debarnot, Laure Favot‐Laforge, Jean‐François Jégou, Ingrid Fruitier‐Arnaudin, Antoine Dufour, Romain Vivès, Franck Morel, Yves Bourne, Kévin Baranger   +12 more
wiley   +1 more source

Arthroscopic excision of symptomatic osteochondroma of the ventral scapula: A case report

Journal of Orthopaedic Reports
Osteochondromas are benign neoplasms composed of cortical and medullary bone, with a hyaline cartilage cap. Scapular osteochondromas represents 4.6 % of all osteochondromas and may present on either the dorsal or ventral surface of the scapula.
Mahala Walker, Anika Yadav, Ashwin Kamineni, Srinath Kamineni   +3 more
doaj   +1 more source