prikaz prve stranice dokumenta "Neurofibromatoze - genetika, klinička slika, dijagnostika i terapija"
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undergraduate thesis
"Neurofibromatoze - genetika, klinička slika, dijagnostika i terapija"
2021. urn:nbn:hr:155:000397
Knežević, Josipa
University of Dubrovnik
Department for Professional Studies

Cite this document

Knežević, J. (2021). "Neurofibromatoze - genetika, klinička slika, dijagnostika i terapija" (Undergraduate thesis). Dubrovnik: University of Dubrovnik. Retrieved from https://urn.nsk.hr/urn:nbn:hr:155:000397

Knežević, Josipa. ""Neurofibromatoze - genetika, klinička slika, dijagnostika i terapija"." Undergraduate thesis, University of Dubrovnik, 2021. https://urn.nsk.hr/urn:nbn:hr:155:000397

Knežević, Josipa. ""Neurofibromatoze - genetika, klinička slika, dijagnostika i terapija"." Undergraduate thesis, University of Dubrovnik, 2021. https://urn.nsk.hr/urn:nbn:hr:155:000397

Knežević, J. (2021). '"Neurofibromatoze - genetika, klinička slika, dijagnostika i terapija"', Undergraduate thesis, University of Dubrovnik, accessed 18 November 2024, https://urn.nsk.hr/urn:nbn:hr:155:000397

Knežević J. "Neurofibromatoze - genetika, klinička slika, dijagnostika i terapija" [Undergraduate thesis]. Dubrovnik: University of Dubrovnik; 2021 [cited 2024 November 18] Available at: https://urn.nsk.hr/urn:nbn:hr:155:000397

J. Knežević, ""Neurofibromatoze - genetika, klinička slika, dijagnostika i terapija"", Undergraduate thesis, University of Dubrovnik, Dubrovnik, 2021. Available at: https://urn.nsk.hr/urn:nbn:hr:155:000397

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Metadata
Title"Neurofibromatoze - genetika, klinička slika, dijagnostika i terapija"
Title (english)"Neurofibromatosis-genetics, clinical criteria, diagnosis and treatment"
AuthorJosipa Knežević
MentorAna Bakija Konsuo (mentor)
Committee memberDenis Čerimagić (predsjednik povjerenstva)
Committee memberMarko Margaritoni (član povjerenstva)
Committee memberAna Bakija Konsuo (član povjerenstva)
GranterUniversity of Dubrovnik
(Department for Professional Studies)
Dubrovnik
Defense date and country2021-09-08, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Dermatovenerology
Abstract
Fakomatoze (od grčke riječi phakos – madež, nevus) ili neurokutani sindrom objedinjuju više neurokutanih nasljednih bolesti (neurofibromatoza 1, neurofibromatoza 2, švanomatoza, tuberozna skleroza i incontinentia pigmenti). Neurofibromatoze su najčešće fakomatoze ili neurokutani sindromi koji se očituju patološkim promjenama u živčanom tkivu, koži i krvnim žilama. Oko 99% slučajeva pripada neurofibromatozi tipa 1 koja se nasljeđuje autosomno dominantno i jedna je od najčešćih autosomno dominantno nasljednih bolesti kod čovjeka. U ovom radu prikazana je klinička slika, genske osnove, dijagnostika i liječenje fakomatoza. Poznavanje genske osnove ovih nasljednih bolesti od velike je važnosti za njihovo kliničko praćenje te informiranje oboljelih i njihovih obitelji. Iako je liječenje je simptomatsko i uglavnom se svodi na liječenje komplikacija, nužno je bolest otkriti što ranije kako bi kvaliteta života oboljelih, ali i njihovih obitelji bila što bolja.
Abstract (english)
Phacomatoses (from the Greek word phakos – mole, nevus) or neurocutaneous syndrome combine more neurocutaneous hereditary diseases (neurofibromatosis 1, neurofibromatosis 2, schwannomatosis, tuberous sclerosis and incontinentia pigmenti). Neurofibromatosis are the most common phacomatoses or neurocutaneous syndromes that are manifested by pathological changes in nerve tissue, skin and blood vessels. About 99% of cases belong to type 1 neurofibromatosis, which is inherited autosomal dominant and is one of the most common autosomal dominant hereditary diseases in man. This paper presents clinical picture, gene bases, diagnosis and treatment of phacomatoses. Knowledge of the gene base of these hereditary diseases is of great importance for their clinical monitoring and informing patients and their families. Although the treatment is symptomatic and mainly comes down to the treatment of complications, it is necessary to detect the disease as early as possible in order to make the quality of life of the sick and their families as good as possible.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:155:000397
Study programmeTitle: Nursing
Study programme type: professional
Study level: undergraduate
Academic / professional title: stručni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) sestrinstva (stručni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) sestrinstva)
Type of resourceText
File originBorn digital
Access conditionsAccess restricted to students and staff of home institution
Terms of useLicence In copyright icon
Created on2021-09-28 09:42:00