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master's thesis
GENETSKO TESTIRANJE U PEDIJATRIJSKOJ NEUROLOGIJI
2020. urn:nbn:hr:184:438985
Jurković, Ivan
University of Rijeka
Faculty of Medicine
Department of Pediatrics

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Jurković, I. (2020). GENETSKO TESTIRANJE U PEDIJATRIJSKOJ NEUROLOGIJI (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:438985

Jurković, Ivan. "GENETSKO TESTIRANJE U PEDIJATRIJSKOJ NEUROLOGIJI." Master's thesis, University of Rijeka, Faculty of Medicine, 2020. https://urn.nsk.hr/urn:nbn:hr:184:438985

Jurković, Ivan. "GENETSKO TESTIRANJE U PEDIJATRIJSKOJ NEUROLOGIJI." Master's thesis, University of Rijeka, Faculty of Medicine, 2020. https://urn.nsk.hr/urn:nbn:hr:184:438985

Jurković, I. (2020). 'GENETSKO TESTIRANJE U PEDIJATRIJSKOJ NEUROLOGIJI', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 15 November 2024, https://urn.nsk.hr/urn:nbn:hr:184:438985

Jurković I. GENETSKO TESTIRANJE U PEDIJATRIJSKOJ NEUROLOGIJI [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2020 [cited 2024 November 15] Available at: https://urn.nsk.hr/urn:nbn:hr:184:438985

I. Jurković, "GENETSKO TESTIRANJE U PEDIJATRIJSKOJ NEUROLOGIJI", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2020. Available at: https://urn.nsk.hr/urn:nbn:hr:184:438985

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Metadata
TitleGENETSKO TESTIRANJE U PEDIJATRIJSKOJ NEUROLOGIJI
Title (english)GENETIC TESTING IN PEDIATRIC NEUROLOGY
AuthorIvan Jurković
MentorIgor Prpić (mentor)
MentorJelena Radić Nišević (mentor)
Committee memberSrđan Banac (predsjednik povjerenstva)
Committee memberSandro Dessardo (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
(Department of Pediatrics)
Rijeka
Defense date and country2020, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Neurology
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract
Uvod. 1982. godine pronašla se je dugo pretpostavljena poveznica između epilepsije i njene genske podloge. Od tada, napredokom ostalih genetičkih metoda, a prije svega NGS-a, otkriva sve veći broj gena odgovornih u etiologiji epilepsije Svrha rada. Ovim istraživanjem željelo se prikazati udio i presjek genetskih promjena u epilepsiji dječje dobi dobivenih metodom NGS-a u periodu od 2 i pol godine na Klinici za pedijatriju u Rijeci te usporediti rezultate istoimene Klinike s rezultatima dobivenim u drugim sličnim istraživanjima. Metode. Istraživanje je provedeno retrospektivno tijekom razdoblja od 2 i pol godina počevši s prvim uzimanjem podataka za analizu 17. studenog 2016. godine sa zaključno zadnjim prikupljenim podatkom 3.svibnja 2019. godine. Tijekom ispitivanog razdoblja broj ispitanika koji je sudjelovao u ovom istraživanju iznosi 47 od kojih su za vrijeme pisanja rada pristigli rezultati za njih 31. Ispitanicima je uzorkovana krv, odakle je poslana u 3 laboratorija za genetska testiranja: Odjel za funkcionalnu genomiku KBC-a Zagreb, CeGaT i Blueprint Genetics. Rezultati. Analiziran je uzorak krvi od 31. ispitanika pri čemu je uredan nalaz od njih 12 dok se u 19 nalazi genska promjena od kojih se za 12 smatra da utječe na pojavu epilepsije. Ukupni dijagnostički prinos genskih panela kao dijagnostičke metode korištene u ovom istraživanju iznosi 39%. Zaključak. Uporaba panela predstavlja solidnu metodu koja doprinosi dijagnosticiranju epilepsije, čijom se sve češćom primjenom zajedno s WES-om i WGS-om konstantno povećava njen dijagnostički prinos. Ovom metodom omogućuje se korištenje gen-specifične terapije koja znatno pridonosi pacijentovom ishodu te omogućuje razvitak nove.
Abstract (english)
Introduction. In 1982, a long-supposed link between epilepsy and its genetic background was found. Since then, the advancement of other genetic methods, primarily NGS, reveals an increasing number of genes responsible for the etiology of epilepsy Aim. The aim of this research was to show the share and the cross section of genetic changes in the epilepsy of children during the period of 2 and a half years at the Pediatric Clinic in Rijeka, as well as to compare these results with those obtained in other similar studies. Methods. The research was conducted retrospectively over a period of 2 and a half years starting from November 17, 2016, and finishing on 3 May 2019. During the study period, the number of respondents who participated in this study was 47 out of which at the time of writing results came for 31 of them. The sample for genetic analysis was obtained from blood and then sent to 3 genetic testing laboratories: Functional Genomic Department of KBC Zagreb, CeGaT and Blueprint Genetics. Results. Blood samples were analyzed from 31 subjects, with no findings in 12 while in 19 genetic changes have been found. In 12 subjects genetic mutations responsive for appearance of epilepsy were found. The total diagnostic yield of the genetic panels, as diagnostic method used in this study, is 39%. Conclusion. The use of the panel represents a solid method in contribution to diagnosis of epilepsy. Its frequent application, together with WES and WGS, raises its diagnostic yield. This method allows the use of gen-specific therapy that significantly contributes to the patient's outcome and enables the development of a new one.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:184:438985
Study programmeTitle: Medicine
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 on2020-01-17 10:32:22