Zobrazeno 1 - 10
of 2 397
pro vyhledávání: '"MCCUNE-ALBRIGHT SYNDROME"'
Publikováno v:
Journal of Orthopaedic Surgery and Research, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Background The lack of effective understanding of the pain mechanism of McCune–Albright syndrome (MAS) has made the treatment of pain in this disease a difficult clinical challenge, and new therapeutic targets are urgently needed to addres
Externí odkaz:
https://doaj.org/article/21c8ab535fea4a95a67d0a91b3c46f01
Autor:
Kaiyang Song, Roshi Shrestha, Heather Delaney, Rohit Vijjhalwar, Alison Turner, Maria Sanchez, Muhammad Kassim Javaid
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Background Reducing delayed diagnosis is a significant healthcare priority for individuals with rare diseases. Fibrous Dysplasia/ McCune Albright Syndrome (FD/MAS) is a rare bone disease caused by somatic activation mutations of NASA. FD/MAS
Externí odkaz:
https://doaj.org/article/b6148581938240ccbe1917ac9fab7362
Publikováno v:
South African Journal of Radiology, Vol 28, Iss 1, Pp e1-e5 (2024)
Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a r
Externí odkaz:
https://doaj.org/article/e044fb925caa419896089954a56a6ad0
Publikováno v:
Journal of Orthopaedics and Traumatology, Vol 24, Iss 1, Pp 1-9 (2023)
Abstract Background Intramedullary nailing (IN) seems to be the best primary surgical treatment for patients with either polyostotic fibrous dysplasia or McCune–Albright syndrome (PFD/MAS) when the femur and tibia are totally affected by fibrous dy
Externí odkaz:
https://doaj.org/article/313c41431b124f4cb5e0a3ce040fd4f1
Publikováno v:
Journal of Clinical and Translational Endocrinology Case Reports, Vol 31, Iss , Pp 100162- (2024)
McCune-Albright syndrome is a rare, non-familial disorder characterized by various clinical presentations. While it is well-known for its classic triad of symptoms of fibrous dysplasia, café-au-lait macules, and precocious puberty, McCune-Albright s
Externí odkaz:
https://doaj.org/article/a6709bb6acb2492ba344397e9476ff1f
Publikováno v:
Frontiers in Surgery, Vol 11 (2024)
BackgroundFiber dysplasia is a complex condition that presents with various clinical manifestations, such as deformity, dysfunction, pathological fractures, and endocrine disorders. McCune–Albright syndrome (MAS) is a rare subtype of fiber dysplasi
Externí odkaz:
https://doaj.org/article/2dc97c2fe4ce44818e149a42f89323ea
Autor:
Laurys Boudin, Valeria De Luca, Léna Mescam-Mancini, Vincent Niziers, Delphine Perrot, Jerome Guiramand, Audrey Monneur, Christophe Chagnaud, François Bertucci
Publikováno v:
Case Reports in Oncology, Vol 16, Iss 1, Pp 294-301 (2023)
The Mazabraud syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. The McCune-Albright syndrome is characterized by the association of dysplasia fibrous bone to one or more extra-osseous manifestations, including c
Externí odkaz:
https://doaj.org/article/dddd8d1a45564fe8b07cf1f1162aae7d
Akademický článek
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Akademický článek
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Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
AimThis study aimed to summarize and show the characteristics and evolutionary process of neonatal cholestasis caused by McCune–Albright syndrome (MAS), as neonatal cholestasis may be the initial manifestation of MAS before other classic clinical f
Externí odkaz:
https://doaj.org/article/90807bb4212843c38ccd20968c95969e