Results 41 to 50 of about 1,873 (147)

Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases

Frontiers in Pharmacology, 2022
Objective: Next-generation sequencing (NGS) technology, changing the diagnostic approach, has become essential in clinical settings, and its adoption by public health laboratories is now the practice.
Elena Pedrini, Antonella Negro, Eugenio Di Brino, Valentina Pecoraro, Camilla Sculco, Elisabetta Abelli, Maria Gnoli, Armando Magrelli, Luca Sangiorgi, Americo Cicchetti   +9 more
doaj   +1 more source

Prevalence of Osteochondromas in the Spine in Patients with Multiple Hereditary Exostoses

JBJS Open Access
Background:. Multiple hereditary exostoses (MHE) is an autosomal-dominant disorder characterized by the development of multiple cartilage-capped exostoses originating from the physis that are known as osteochondromas.
Carlos Monroig-Rivera, MD, Lauren Bockhorn, MD, David Thornberg, BS, Brenda Santillan, BS, Karl E. Rathjen, MD   +4 more
doaj   +1 more source

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. [PDF]

Mol Genet Genomic Med, 2019
: Background We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas.
Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW.   +12 more
europepmc   +2 more sources

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source

Interobserver Reliability in the Histopathological Diagnosis of Cartilaginous Tumors in Patients with Multiple Osteochondromas

, 2012
The distinction between benign and malignant cartilaginous tumors located peripherally in the bone may be a challenging task in surgical pathology.
Kroon, Herman M, Liegl, Bernadette, Hogendoorn, Pancras C. W, Bovée, Judith V. M. G, Athanasou, Nicholas A, de Andrea, Carlos E, Romeo, Salvatore, Jones, Kevin B, Rosenberg, Andrew E, Hauben, Esther, Inwards, Carrie Y, McCarthy, Edward F, DeYoung, Barry R, Idoate, Miguel, Wolterbeek, Ron   +14 more
core   +3 more sources

Endoscopic Resection of Exostosis at the Medial Border of Scapula

Arthroscopy Techniques, EarlyView.
Abstract Scapular exostoses are rare, and ventral lesions are more common than dorsal lesions. Scapular exostoses can cause symptoms including pain and mechanical crepitus due to scapulothoracic bursitis, decreased active range of motion, “pseudowinging” of the scapula and snapping scapula.
Tun Hing Lui, Florence Ou Suet Pang
wiley   +1 more source

Bone deformities with hereditary multiple osteochondromas [PDF]

INTRODUCTION. Hereditary multiple osteochondromas (HMO) is a genetic skeletal disorder caused by defects in exostosin glycosyltransferase 1 (EXT1) or 2 (EXT2) genes.
Buch, Christina Damgaard, Færgemann, Christian, Nymark, Tine, Brink Petersen, Rikke   +3 more
core   +1 more source

Dysplasia epiphysealis hemimelica: A histological comparative study with osteochondromas

Journal of Children's Orthopaedics, 2017
Purpose Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences
J. Stevens, T. J. M. Welting, A. M. Witlox, L. W. van Rhijn, H. M. Staal   +4 more
doaj   +1 more source

Examining the Role of Artificial Intelligence in Assessment: A Comparative Study of ChatGPT and Educator‐Generated Multiple‐Choice Questions in a Dental Exam

European Journal of Dental Education, EarlyView.
ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer, Yusuf Balcı, Gaye Bölükbaşı, Betul İlhan, Pelin Güneri   +4 more
wiley   +1 more source

An Atypical Hip Pain in a Recreational Athlete: A Case Report

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Osteochondromas are the most common benign bone tumors, but pelvic involvement is rare. We present a case of an iliac osteochondroma manifesting with atypical hip pain, adding to the limited literature on pelvic osteochondromas and highlighting the diagnostic and management challenges of such cases in an athletic population. A 28‐year‐old male
Qvick Milan, Steyaert Adelheid, Watteyne Karel   +2 more
wiley   +1 more source