Results 91 to 100 of about 1,805 (231)

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

open access: yesThe 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   +12 more
wiley   +1 more source

A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis [PDF]

open access: yesPerspectives In Medical Research
Hereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones.
Annu Nanda   +2 more
doaj   +1 more source

Teleangiectatic Osteosarcoma Treated by Surgery and Chemotherapy: A Report of 223 Affected Patients From the Cooperative Osteosarcoma Study Group (COSS)

open access: yesCancer Medicine, Volume 14, Issue 17, September 2025.
ABSTRACT Purpose Teleangiectatic osteosarcoma is a histologic subtype of osteosarcoma that can mimic aneurysmal bone cysts and has so far been incompletely characterized. Patients and Methods We used the database of the Cooperative Osteosarcoma Study Group COSS (patient‐registration 1980–2019) to better understand this rare histologic variant.
Stefan S. Bielack   +17 more
wiley   +1 more source

Chondrosarcoma in Metachondromatosis: A Rare Case Report

open access: yesActa Medica Iranica, 2018
Metachondromatosis which was first described in 1971 by Maroteaux is a rare genetic disease consisting of osteochondromas and enchondromas, caused by loss of function of the PTPN11 gene.
Khodamorad Jamshidi   +2 more
doaj  

Familiäre Tumorerkrankungen im Knochen [PDF]

open access: yes, 2018
Zusammenfassung: Familiäre Erkrankungen, die zur Bildung von Knochentumoren führen, sind selten. Sie entwickeln sich im Zusammenhang mit genetischen Alterationen, die den Zellzyklus (Retinoblastomsyndrom/RB1, Li-Fraumeni-Syndrom/p53), wachstumssteuernde ...
Baumhoer, D., Jundt, G.
core  

Treatment of multiple hereditary osteochondromas of the forearm in children [PDF]

open access: yesThe Journal of Bone and Joint Surgery. British volume, 2006
We have evaluated the clinical outcomes of simple excision, ulnar lengthening and the Sauvé-Kapandji procedure in the treatment of deformities of the forearm in patients with multiple hereditary osteochondromas. The medical records of 29 patients (33 forearms) were reviewed; 22 patients (22 forearms) underwent simple excision (four with ulnar ...
E K, Shin, N F, Jones, J F, Lawrence
openaire   +2 more sources

Multiple exostoses and an osteochondroma in a Pliocene canid from Langebaanweg ‘E’ Quarry (South Africa)

open access: yesJournal of Anatomy, Volume 247, Issue 3-4, Page 856-868, September/October 2025.
Overview of XS of pathological radius. Using anatomical descriptions, CT scanning and bone histology, we investigate several skeletal overgrowths of bone (exostoses) in the skeleton of a jackal‐like canid from the world famous Langebaanweg, a Mio‐Pliocene locality in South Africa.
Anusuya Chinsamy, Alberto Valenciano
wiley   +1 more source

Spine Osteochondromas: are they always rare and harmless? A case series of six symptomatic cases

open access: yesColuna/Columna
Osteochondroma is the most common benign bone tumor, though spinal involvement is rare. This study presents a case series of six symptomatic spinal osteochondromas, including both solitary forms and cases associated with multiple hereditary exostoses ...
GABRIEL FARIAS ALVES   +2 more
doaj   +1 more source

A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

open access: yesClinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT A 17‐year‐old male patient with a c.2065C>T heterozygous nonsense mutation in the TRPS1 gene has sparse, soft hair; short thumbs and toes; misaligned teeth; and X‐ray findings of short distal thumb phalanges, depressed middle finger phalanges bases, and short toe proximal phalanges.
Cailing E.   +5 more
wiley   +1 more source

Complicaciones de los osteocondromas [PDF]

open access: yes, 2009
Los osteocondromas o exostosis cartilaginosas son los tumores óseos más frecuentes, representando el 10-15 % de la totalidad. Parece ser más bien una alteración del desarrollo óseo más que un tumor verdadero.
Carpintero Benítez, Pedro   +4 more
core  

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