Results 41 to 50 of about 1,735 (162)

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

Chronic Pain as an Early Diagnostic Clue in Hereditary Multiple Exostoses: Two Pediatric Cases Highlighting Diagnostic Delay

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder characterized by the development of multiple osteochondromas adjacent to the growth plates. Although skeletal deformities and palpable masses are common findings, chronic pain may represent an early and underappreciated diagnostic clue, particularly in pediatric
Melissa Mariti Fraga, Valesca Oliveira Paes Tanaka, Luciana Tudech Salgueiro Pedro Paulo, Maria Carolina Santos, Carolina Costa Figueiredo, Nara Michelle de Araújo Evangelista, Vânia de Fátima Tonetto Fernandes, Guido de Paula Colares Neto   +7 more
wiley   +1 more source

Ventral Scapular Osteochondroma in Hereditary Multiple Exostosis

Annals of Thoracic Surgery Short Reports, 2023
Hereditary multiple exostosis is a rare, autosomal dominant, highly penetrant genetic disorder characterized by the development of osteochondromas on the metaphysis of long and flat bones. The development of osteochondromas on the scapula is unusual but has been reported.
Gregory P. Mouradian, Sam Hong, Emmanuel Daon   +2 more
openaire   +2 more sources

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, Volume 30, Issue 3, Page 881-895, August 2026.
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

Thoracic Cord Compression by an Osteochondroma in a Patient with Multiple Osteochondromas.

Orthopedics & Traumatology, 1992
Osteochondromas rarely compress the spinal cord or cauda equina. A case of thoracic cord compression by an osteochondroma combined with multiple osteochondromas is reported. A 21-year-old man was admitted to our hospital with a 3-month history of spastic gait and sensory disturbance.
Yanagi, Hidehiro, Suzuki, Katumi, Nakamura, Toshitaka, Mishima, Shinichi, Hijioka, Akihiko   +4 more
openaire   +2 more sources

A Dialogic Participatory Model Between Professionals and Patients for the Co‐Creation of Transitioning Care Management Programmes in Rare Bone Diseases

Health Expectations, Volume 29, Issue 4, August 2026.
ABSTRACT Introduction Rare diseases are a group of heterogeneous conditions affecting fewer than 5 per 10,000 individuals in Europe, with rare bone diseases representing a clinically significant subgroup. Multiple osteochondromas, Ollier disease and Maffucci syndrome are multifocal benign rare disorders, characterised by bone deformities, functional ...
Marina Mordenti, Silvia Forni, Eleonora Grippa, Maria Cecilia la Forgia, Davide Scognamiglio, Manila Boarini, Gabriella Massa, Andrea Romeo, Alessandro Sergi, Luca Sangiorgi, Transitioning Care Management Working Group (TCM WG), Giovanni Beltrami, Domenico Campanacci, Nunzio Catena, Mauro Celli, Marta Cervo, Leonardo D'Agruma, Gian Luigi Federico, Giovanni Gallone, Michela Veronika Gonfiantini, Laura Masi, Maria Beatrice Michelis, Osvaldo Palmacci, Annabruna Ronchetti, Paolo Trezza   +24 more
wiley   +1 more source

Spinal cord compression by an osteochondroma in a patient with multiple osteochondromas.

Orthopedics & Traumatology, 1989
A case of spinal cord compression by an osteochondroma with multiple osteochondromas was reported.A 10-year-old boy was admitted to our hospital with 6-month history of spastic gait in the right leg.Neurological examination demonstrated mild weakness of the right lower extremity. There were relative hyper-reflexes in the right leg. Plain roentgenograms
Kubota, Hideaki, Okue, Akira, Ishizaki, Tomoki, Matsuguchi, Nobuyuki, Shindou, Takayasu, Tahara, Keishi, Esaki, Yukio   +6 more
openaire   +2 more sources

Osteochondroma Arising from Dorsal Pedicle Causing Compressive Myelopathy

Journal of Orthopaedic Case Reports
Introduction: Osteochondromas are benign bony neoplasms typically located in long bones, though they may occasionally occur in the posterior elements of the spine.
Mantu Jain, Nikhil Unnava, Rabi Narayan Sahu, Kanav Gupta, Raghavendra Balagod, Abhijith K Jayan   +5 more
doaj   +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

Acral Mesenchymal Spindle Cell Neoplasm With a Novel HMGA2::NCOA2 Fusion

Journal of Cutaneous Pathology, Volume 53, Issue 5, Page 402-406, May 2026.
ABSTRACT Molecular profiling has revolutionized the field of soft tissue pathology, enhancing diagnostic precision and treatment strategies. The integration of molecular analysis and immunohistochemistry has been crucial for classifying diagnostically challenging acral mesenchymal neoplasms.
Grace Z. Armstrong, Carina A. Dehner, Eitan Halper‐Stromberg, Esther Baranov, Anna C. Eden, Rachel P. Kowal   +5 more
wiley   +1 more source