Zobrazeno 1 - 10
of 472
pro vyhledávání: '"tuberous sclerosis complex (TSC)"'
Publikováno v:
Exploration of Neuroscience, Vol 3, Iss 5, Pp 527-538 (2024)
Aim: Patients with tuberous sclerosis complex (TSC) which is caused by hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1) often show giant cells in the brain. These giant cells are thought to be involved in epileptogenesis, but the
Externí odkaz:
https://doaj.org/article/8701c289fadd49a5baf59b4723ac1ef7
Autor:
M. Vasseghi, C. Behan, A. Connolly, D. Cunningham, E. Dempsey, C. Flynn, M. Galvin, G. Griffin, P. Moloney, M. Murphy, Y. Owen, S. O’Malley, G. O’Rourke, O. O’Sullivan, C. P. Doherty
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-7 (2024)
Abstract Background Tuberous sclerosis complex (TSC) is a rare approximate 1:6000 birth incidence, a genetic disease with a wide variability of physical and neuropsychiatric symptoms. Patients require lifelong care from multiple healthcare specialiti
Externí odkaz:
https://doaj.org/article/ca8de27f2e694121a80d87cbfa4122ea
Autor:
Meredith Rose, David Ritter, Nishant Gupta, Leandra Tolusso, Paul Horn, Emily Wakefield, Jennifer Glass
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Patients with tuberous sclerosis complex (TSC) face an increased risk of maternal health complications and worsening disease manifestations during pregnancy. There are no established consensus guidelines that address the managemen
Externí odkaz:
https://doaj.org/article/535f06fff8ce4ab097f3f7a0f340b622
Publikováno v:
Journal of the Pakistan Medical Association, Vol 73, Iss 11 (2023)
Tuberous Sclerosis Complex (TSC) is a rare autosomal dominant genetic disease caused by a deactivating mutation in one of the two tumour suppressor genes, TSC1 or TSC2.1,2 These mutations can lead to hyperactivation of the mammalian Target of Rapamyc
Externí odkaz:
https://doaj.org/article/0581452e53ba497cb1df7ad9581e2e33
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundTuberous Sclerosis Complex (TSC) is a hereditary condition that leads to the development of non-malignant neoplasms in various organs, including cardiac rhabdomyomas, which can cause significant complications.Case presentationThis report de
Externí odkaz:
https://doaj.org/article/c1b33ba533d6471395e378f76587b153
Publikováno v:
BMC Women's Health, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Perivascular epithelioid cell tumors (PEComas) of the uterus is a rare type of mesenchymal tumors associated with myelomelanocytic differentiation and distinctive histological appearances. So far, the reported cases of uterine PEC
Externí odkaz:
https://doaj.org/article/97e2763b1bf343c4b42996a0619a79ba
Publikováno v:
Epilepsia Open, Vol 7, Iss 4, Pp 718-728 (2022)
Abstract Objective Epilepsy associated with tuberous sclerosis complex (TSC) can be challenging to treat and is associated with significant disease burden. Our objective was to better understand the state of epilepsy care of TSC amongst pediatric neu
Externí odkaz:
https://doaj.org/article/06cb516bf511462abf7b18a9b5192747
Tuberous sclerosis complex as a rare cause of multiple nodular and cystic lung disease:a case report
Publikováno v:
Jichu yixue yu linchuang, Vol 42, Iss 9, Pp 1424-1427 (2022)
Objective To broaden the differential diagnosis thinking of diffuse cystic lung diseases and multiple nodular lung disease, and to deepen the understanding of clinical phenotypes of tuberous sclerosis complex (TSC). Methods A case of TSC with complai
Externí odkaz:
https://doaj.org/article/d334395d48744ab2b5b5aa8d3499b668
Autor:
Katia Librandi, Serena Grimaldi, Silvia Catalano, Francesco Moro, Stefano Gabriele Vallero, Marco Spada, Francesco Porta
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundTuberous sclerosis complex (TSC) is a rare multisystemic disorder. This genetically determined disease is characterized by highly variable clinical expression, including epilepsy as a common feature. Seizures can also occur as a manifestati
Externí odkaz:
https://doaj.org/article/722d5794c95c4aeaa969a7e4bafad5b0
Autor:
Muireann Ní Bhaoighill, Juan M. Falcón‐Pérez, Félix Royo, Andrew R. Tee, Jason P. Webber, Elaine A. Dunlop
Publikováno v:
Journal of Extracellular Vesicles, Vol 12, Iss 6, Pp n/a-n/a (2023)
Abstract Hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1) is a feature of many solid tumours and is a key pathogenic driver in the inherited condition Tuberous Sclerosis Complex (TSC). Modulation of the tumour microenvironment by
Externí odkaz:
https://doaj.org/article/8c6f1cb68aad4a4b801ac9725eaa29a1