. "30910" . "Tuber\u00F3zn\u00ED skler\u00F3za (komplex tuber\u00F3zn\u00ED skler\u00F3zy, TSC) je neurokut\u00E1nn\u00ED syndrom vznikaj\u00EDc\u00ED na podklad\u011B z\u00E1rode\u010Dn\u00E9 mutace genu TSC1 nebo TSC2. V\u00FDskyt TSC je p\u0159ibli\u017En\u011B 1 : 6000 narozen\u00FDch d\u011Bt\u00ED. Pro TSC je charakteristick\u00FD n\u00E1lez hamartogenn\u00EDch a n\u00E1dorov\u00FDch l\u00E9z\u00ED v centr\u00E1ln\u00ED nervov\u00E9 soustav\u011B a dal\u0161\u00EDch org\u00E1nov\u00FDch syst\u00E9mech. V tumorigenezi subependym\u00E1ln\u00EDho obrovskobun\u011B\u010Dn\u00E9ho astrocytomu (SEGA) i angiomyolipomu ledvin (AML) u pacient\u016F s tuber\u00F3zn\u00ED skler\u00F3zou hraje kl\u00ED\u010Dovou roli patologick\u00E1 aktivace proteinov\u00E9ho komplexu mTORC1. Blok\u00E1da t\u00E9to sign\u00E1ln\u00ED dr\u00E1hy u\u017Eit\u00EDm mTOR inhibitoru (everolimus) se ve studi\u00EDch f\u00E1ze 3 uk\u00E1zala jako vysoce \u00FA\u010Dinn\u00E1 l\u00E9\u010Dba vedouc\u00ED ke zmen\u0161en\u00ED objemu SEGA i ren\u00E1ln\u00EDch AML. Filosofi\u00ED dlouhodob\u00E9ho sledov\u00E1n\u00ED osob s TSC je \u010Dasn\u00E1 terapeutick\u00E1 intervence sni\u017Euj\u00EDc\u00ED morbiditu a mortalitu z d\u016Fvodu p\u0159idru\u017Een\u00FDch symptom\u016F a zvy\u0161uj\u00EDc\u00ED kvalitu \u017Eivota."@cs . "mTOR inhibice: nov\u00E9 mo\u017Enosti farmakologick\u00E9 l\u00E9\u010Dby n\u00E1dor\u016F u pacient\u016F s tuber\u00F3zn\u00ED skler\u00F3zou"@cs . . . "[CD8C12BC84DB]" . . "8" . . "RIV/00216224:14110/14:00078899!RIV15-MSM-14110___" . . . . "Tuberous sclerosis (tuberous sclerosis complex, TSC) is a neurocutaneous syndrome that results from a germline mutation in TSC1 or TSC2 genes. An incidence of TSC is approximately 1 in 6000 live births. TSC is characterized by involvement of central nervous tissues and other organ systems. The pathogenic activation of mTORC1 leads to the development of subependymal giant cell astrocytoma (SEGA) and renal angiomyolipoma (AML) in TSC patients. Blocking this pathway using mTOR inhibitors has the potential to reduce the volume of SEGA and AML as documented in phase 3 studies. Long term follow-up and early therapeutical intervention should lead to the reduction of mortality and morbidity and quality of life improvement in TSC patients."@en . "tuberous sclerosis complex; subependymal giant cell astrocytoma; angiomyolipoma; everolimus"@en . . "1"^^ . . "Postgradu\u00E1ln\u00ED medic\u00EDna" . "P(ED2.1.00/03.0101), P(EE2.3.20.0183)" . "1"^^ . "Zitterbart, Karel" . "RIV/00216224:14110/14:00078899" . "7"^^ . "mTOR inhibition: new possibilities in pharmacologic treatment of tumours in patients with tuberous sclerosis"@en . . "mTOR inhibice: nov\u00E9 mo\u017Enosti farmakologick\u00E9 l\u00E9\u010Dby n\u00E1dor\u016F u pacient\u016F s tuber\u00F3zn\u00ED skler\u00F3zou"@cs . . . . "16" . "Tuber\u00F3zn\u00ED skler\u00F3za (komplex tuber\u00F3zn\u00ED skler\u00F3zy, TSC) je neurokut\u00E1nn\u00ED syndrom vznikaj\u00EDc\u00ED na podklad\u011B z\u00E1rode\u010Dn\u00E9 mutace genu TSC1 nebo TSC2. V\u00FDskyt TSC je p\u0159ibli\u017En\u011B 1 : 6000 narozen\u00FDch d\u011Bt\u00ED. Pro TSC je charakteristick\u00FD n\u00E1lez hamartogenn\u00EDch a n\u00E1dorov\u00FDch l\u00E9z\u00ED v centr\u00E1ln\u00ED nervov\u00E9 soustav\u011B a dal\u0161\u00EDch org\u00E1nov\u00FDch syst\u00E9mech. V tumorigenezi subependym\u00E1ln\u00EDho obrovskobun\u011B\u010Dn\u00E9ho astrocytomu (SEGA) i angiomyolipomu ledvin (AML) u pacient\u016F s tuber\u00F3zn\u00ED skler\u00F3zou hraje kl\u00ED\u010Dovou roli patologick\u00E1 aktivace proteinov\u00E9ho komplexu mTORC1. Blok\u00E1da t\u00E9to sign\u00E1ln\u00ED dr\u00E1hy u\u017Eit\u00EDm mTOR inhibitoru (everolimus) se ve studi\u00EDch f\u00E1ze 3 uk\u00E1zala jako vysoce \u00FA\u010Dinn\u00E1 l\u00E9\u010Dba vedouc\u00ED ke zmen\u0161en\u00ED objemu SEGA i ren\u00E1ln\u00EDch AML. Filosofi\u00ED dlouhodob\u00E9ho sledov\u00E1n\u00ED osob s TSC je \u010Dasn\u00E1 terapeutick\u00E1 intervence sni\u017Euj\u00EDc\u00ED morbiditu a mortalitu z d\u016Fvodu p\u0159idru\u017Een\u00FDch symptom\u016F a zvy\u0161uj\u00EDc\u00ED kvalitu \u017Eivota." . "mTOR inhibition: new possibilities in pharmacologic treatment of tumours in patients with tuberous sclerosis"@en . "mTOR inhibice: nov\u00E9 mo\u017Enosti farmakologick\u00E9 l\u00E9\u010Dby n\u00E1dor\u016F u pacient\u016F s tuber\u00F3zn\u00ED skler\u00F3zou" . "1212-4184" . "mTOR inhibice: nov\u00E9 mo\u017Enosti farmakologick\u00E9 l\u00E9\u010Dby n\u00E1dor\u016F u pacient\u016F s tuber\u00F3zn\u00ED skler\u00F3zou" . . "14110" . . "CZ - \u010Cesk\u00E1 republika" . .