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master's thesis
Kliničke značajke u djece s neurofibromatozom tip 1
2023. urn:nbn:hr:152:044462
Čorić, Tena
Josip Juraj Strossmayer University of Osijek
Faculty of Medicine Osijek

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Čorić, T. (2023). Kliničke značajke u djece s neurofibromatozom tip 1 (Master's thesis). Osijek: Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek. Retrieved from https://urn.nsk.hr/urn:nbn:hr:152:044462

Čorić, Tena. "Kliničke značajke u djece s neurofibromatozom tip 1." Master's thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, 2023. https://urn.nsk.hr/urn:nbn:hr:152:044462

Čorić, Tena. "Kliničke značajke u djece s neurofibromatozom tip 1." Master's thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, 2023. https://urn.nsk.hr/urn:nbn:hr:152:044462

Čorić, T. (2023). 'Kliničke značajke u djece s neurofibromatozom tip 1', Master's thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, accessed 20 November 2024, https://urn.nsk.hr/urn:nbn:hr:152:044462

Čorić T. Kliničke značajke u djece s neurofibromatozom tip 1 [Master's thesis]. Osijek: Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek; 2023 [cited 2024 November 20] Available at: https://urn.nsk.hr/urn:nbn:hr:152:044462

T. Čorić, "Kliničke značajke u djece s neurofibromatozom tip 1", Master's thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, Osijek, 2023. Available at: https://urn.nsk.hr/urn:nbn:hr:152:044462

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Metadata
TitleKliničke značajke u djece s neurofibromatozom tip 1
Title (english)Clinical features of children with neurofibromatosis type 1
AuthorTena Čorić
MentorAndrea Šimić Klarić (mentor)
Committee memberVesna Milas (predsjednik povjerenstva)
Committee memberSilvija Pušeljić (član povjerenstva)
Committee memberAndrea Šimić Klarić (član povjerenstva)
GranterJosip Juraj Strossmayer University of Osijek
Faculty of Medicine Osijek
Osijek
Defense date and country2023-07-14, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Immunology
Abstract
CILJEVI ISTRAŽIVANJA: Ispitati kliničke značajke djece s neurofibromatozom tip 1 te rezultate dijagnostičkih pretraga koje su učinjene radi dokazivanja stanja kod dijagnoze. NACRT STUDIJE: Presječno istraživanje s povjesnim podacima. ISPITANICI I METODE: U istraživanje su uključena djeca s dijagnosticiranom neurofibromatozom tip 1 koja se prate u Neuropedijatrijskoj ambulanti Opće županijske bolnice (OŽB) Požega od 2002. do 2021. godine. Prikupljeni su podatci iz bolničke dokumentacije: dob, spol, trajanje bolesti, elementi kliničke slike, pridružene bolesti, status, laboratorijske pretrage, okulistička ispitivanja, EEG, MRI mozga, podaci o rodoslovnom stablu na NF1, UZV srca, abdomena i bubrega, ORL obrada te obrada psihologa i logopeda. Kategorijski podatci prikazani su apsolutnim frekvencijama i ukupnim brojem. REZULTATI: U ovom istraživanju je značajno je više ženskih ispitanica (9/12). Dijagnoza je češće postavljena prije navršene jedne godine života. Najčešća značajka su bile pjege bijele kave, a bile su prisutne po rođenju ili su se počele razvijati tijekom dojenačke dobi. Obiteljska anamneza je većinom bila pozitivna. EEG, ehokardiografija, UZV abdomena i bubrega te audiološka obrada su bili većinom uredni. MRI je u većini ispitanika patološki, a najčešće promjene su optički gliomi i FASI lezije. ZAKLJUČAK: Pjege bijele kave su najčešća promjena kod djece s neurofibromatozom tip 1. Najčešći patološki nalaz u MRI mozga su optički gliomi, a potom FASI lezije. Polovina ispitanika pohađa školu prema posebnom programu. Većina ispitanika ima glavobolju kao drugu ili pridruženu bolest.
Abstract (english)
OBJECTIVES: To examine the clinical features of children with neurofibromatosis type 1 and the results of diagnostic tests that were performed to prove the condition at diagnosis. STUDY DESIGN: A cross-sectional study with historical data. PARTICIPANTS AND METHODS: Children diagnosed with neurofibromatosis type 1 who were followed up in the Neuropediatric Outpatient Clinic of the General County Hospital (OŽB) Požega from 2002 to 2021 were included in the research. Data were collected from the hospital documentation: age, sex, duration of the disease, symptoms, associated conditions, clinical findings, laboratory tests, ophthalmological exam, EEG, MRI of the brain, family history, echocardiography, abdominal ultrasound, speech and cognitive assessment. Categorical data are presented in absolute frequencies and total number. RESULTS: There are significantly more female examinees (9/12). The diagnosis is more often established before the age of one year. The most common clinical feature were cafe au lait spots, which were present at birth or began to develop during infancy. The family history was mostly positive. EEG, echocardiography, abdominal ultrasound and audiological examination were mostly normal. MRI is pathological in most subjects. CONCLUSION: Cafe au lait spots are the most common change in children with neurofibromatosis type 1. The most common pathological findings in brain MRI are optic gliomas, followed by FASI lesions. Half of the examinees attend school according to a special program. Most of the examinees have headache as a second or associated disease.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:152:044462
Study programmeTitle: University Graduate Studies
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-14 14:18:38