Zobrazeno 1 - 10
of 1 413
pro vyhledávání: '"multiple exostoses"'
Publikováno v:
Journal of Current Ophthalmology, Vol 35, Iss 4, Pp 411-414 (2024)
Purpose: 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).
Externí odkaz:
https://doaj.org/article/e29c990dfa64410595ff795a72c87965
Publikováno v:
JSES Reviews, Reports, and Techniques, Vol 4, Iss 3, Pp 547-550 (2024)
Externí odkaz:
https://doaj.org/article/91915302f1814225953e9440edfa0147
Autor:
Federica Masino, MD, Manuela Montatore, MD, Rossella Carpentiere, MD, Marina Balbino, MD, Rossella Gifuni, MD, Giacomo Fascia, MD, Giuseppe Guglielmi, MD
Publikováno v:
Radiology Case Reports, Vol 19, Iss 8, Pp 2943-2949 (2024)
We present a case of hereditary multiple exostoses with malignant transformation to chondrosarcoma in a woman complaining of enlargement and pain in the right thigh. Hereditary multiple exostoses is a rare genetic disorder characterized by multiple o
Externí odkaz:
https://doaj.org/article/a850b0cc57c245beb88e77c376b49d67
Publikováno v:
Perspectives In Medical Research, Vol 12, Iss 2, Pp 79-81 (2024)
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. In many cases it is asymptomatic but can lead to considerab
Externí odkaz:
https://doaj.org/article/d8a691e290a24413ad9895dbe15f376a
Autor:
Diederik P.J. Smeeing, MD, PhD, Willemijn M. Klein, MD, PhD, Edwin F. Dierselhuis, MD, PhD, Horst E. Daniels, MD, PhD
Publikováno v:
Radiology Case Reports, Vol 19, Iss 6, Pp 2498-2501 (2024)
Diaphragmatic hernia in children is uncommon, especially when not congenital. We present a case of an 11-year old boy with a diaphragmatic hernia caused by a rib osteochondroma. The osteochondroma was surgically removed and the laceration in the diap
Externí odkaz:
https://doaj.org/article/6d2a1e3fc9244442b70f4ad106f88b06
Autor:
Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most HME are caused by EXT1
Externí odkaz:
https://doaj.org/article/0a911331793b4b76a40738f99bf0e9cb
Autor:
Saroj prasad Sah, Vikas Maheshwari, Aditya K.S. Gowda, Bom Bahadur, Robin Yadav, Mohit Dhingra
Publikováno v:
Journal of Orthopaedic Reports, Vol 2, Iss 3, Pp 100167- (2023)
Background: Osteochondroma is the most common benign bone tumor. This aberrant developmental lesion of the bone in the rib is rare and forms part of multiple diaphyseal aclasia in some cases. Large osteochondroma of the ribs has a high chance of conv
Externí odkaz:
https://doaj.org/article/db662424030845e394b8977f229f2e84
Publikováno v:
Arthroplasty Today, Vol 16, Iss , Pp 175-181 (2022)
Patients with hereditary multiple exostosis develop several benign osseocartilaginous bulge lesions throughout the body. A 62-year-old woman presented for evaluation of worsening left knee valgus deformity, and left knee pain. She had been diagnosed
Externí odkaz:
https://doaj.org/article/07c49fec743c43838d77f70b0e864f8e
Publikováno v:
Heliyon, Vol 9, Iss 1, Pp e13018- (2023)
Background: Our previous study in genetic mouse models found that NFATc1 and NFATc2 suppress osteochondroma formation from entheseal progenitors. However, it remains unclear whether NFAT signaling is also involved in human osteochondromagenesis. As t
Externí odkaz:
https://doaj.org/article/0a89dd4193164dc2a61fba47c62ed93c
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