Results 91 to 100 of about 1,621 (210)
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family [PDF]
, 2010 Background Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1 ...
Sevjidmaa Baasanjav +7 more
core +1 more source
Reporting Bone Cytopathology—A Proposal Based on a Single Tertiary Centre Experience
Cytopathology, Volume 36, Issue 2, Page 123-139, March 2025.Fine‐needle aspiration cytology is a reliable tool for diagnosing bone lesions, with high sensitivity, specificity and diagnostic accuracy across various tumour types. This study provides valuable insights for developing a standardised reporting system for bone cytopathology, aiming to improve diagnostic precision and patient management.
Jan Köster +2 more
wiley +1 more source
Radiological conference. Osteopoikilosis [PDF]
, 1998 published_or_final_versio
Peh, WCG, Wong, LLS
core
Enhanced BMP Signaling Alters Human β‐Cell Identity and Function
Advanced Biology, Volume 9, Issue 1, January 2025.This study evaluates the association between bone morphogenetic protein (BMP)‐signaling and inflammation‐induced β‐cell failure in the context of diabetes. Results show that proinflammatory cytokines activate BMP signaling in human islets. Furthermore, enhanced BMP signaling reduces β‐cell marker expression, increases ER stress, and impairs β‐cell ...
Esmée Dekker +5 more
wiley +1 more source
SOLITARY DIAPHYSEAL EXOSTOSIS OF THE ULNA: A CASE REPORT OF AN UNCOMMON PRESENTATION [PDF]
, 2022 Background: Reporting a case of osteochondroma in an uncommon location in a pediatric patient. Presentation of Case: A female patient with a history of limited pronation in the right forearm due to a solitary lesion in anterolateral part of distal third ...
GIL-ALBAROVA, JORGE +1 more
core +1 more source
Variations in the Terminal Branches of the Brachial Plexus in the Axillary Fossa
BioMed Research International, Volume 2025, Issue 1, 2025.Background: The brachial plexus is the primary nerve source for the upper limb. Variations in its anatomy can alter the nerve supply to the upper extremity. Such deviations are clinically important, as they can change the symptomatology of various pathologic conditions, leading to misdiagnosis, inadequate treatment, and surgical failures as a ...
Elena Bozhikova +5 more
wiley +1 more source
Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report
Journal of Current OphthalmologyPurpose: To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family. Methods: HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas).
Shashi Tanwar +3 more
doaj +1 more source
A Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child
Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.Proteus syndrome (PS) is an exceptionally rare disorder characterized by asymmetric and disproportionate overgrowth of connective tissues. We report the case of an 8‐year‐old female presenting with irregular cranial protrusion, bilateral supraorbital ridge enlargement, overgrowth of the right hand and left foot, and a pelvic MRI revealing an ovarian ...
Lin Juan +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 +5 more
doaj +1 more source