Zhodnocení výskytu a významu vybraných organických a funkčních změn centrálního nervového systému u pacientů s neurofibromatózou typ 1

• Název práce v češtině: Zhodnocení výskytu a významu vybraných organických a funkčních změn centrálního nervového systému u pacientů s neurofibromatózou typ 1
• Název v anglickém jazyce: Evaluation of incidence and importance of specific organic and functional changes of central nervous system in patients with neurofibromatosis type 1
• Klíčová slova: neurofibromatóza typ 1, gliom mozku, hydrocefalus, idiopatická stenóza akveduktu, sporadický výskyt, biomarkery
• Klíčová slova anglicky: neurofibromatosis type 1, brain glioma, hydrocephalus, idiopathic aqueduct stenosis, sporadic cases, biomarkers
• Akademický rok vypsání: 2007/2008
• Typ práce: disertační práce
• Jazyk práce: čeština
• Ústav: Klinika dětské neurologie (13-441)
• Vedoucí / školitel: prof. MUDr. Vladimír Komárek, CSc.
• Řešitel: skrytý - zadáno a potvrzeno stud. odd.
• Datum přihlášení: 01.09.2014
• Datum zadání: 01.09.2014
• Datum potvrzení stud. oddělením: 01.09.2014
• Datum a čas obhajoby: 02.09.2019 14:00
• Datum odevzdání elektronické podoby: 21.06.2019
• Datum odevzdání tištěné podoby: 20.06.2019
• Datum proběhlé obhajoby: 02.09.2019
• Oponenti: prof. MUDr. Soňa Nevšímalová, DrSc.
• Konzultanti: MUDr. Bořivoj Petrák, CSc.

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Předběžná náplň práce

1) Zhodnotit klinický význam nálezů na MR zobrazeních mozku, především gliomů a hydrocefalu, a dle výsledků upravit indikační kritéria MR tak, aby tyto život ohrožující komplikace byly včas zachyceny.
2) V rámci zpracování všech dat v celém souboru odhalit možné příčiny vysokého počtu sporadických případů.
3) Vyhodnotit diagnostický význam využití biomarkerů – neuron specifické enolázy (NSE) a proteinu S100B u pacientů s mozkovými gliomy.

Předběžná náplň práce v anglickém jazyce

The aim of the study was to evaluate the importance of brain MRI´s findings, especially gliomas outside optic pathway (GOOP) and obstructive hydrocephalus. Modify the criteria for brain MR imaging in NF1 patients according to this data, to improve the quality of life with early detection of important NF1 complications.
Description of the whole cohort, with emphasise to possible cause of high range of sporadic NF1 cases.
Evaluation the possibility diagnosis or follow up of brain gliomas by plasmatic values of neuron specific enolase (NSE) and S100B protein.