prikaz prve stranice dokumenta APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA
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diplomski rad
APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA
2023. urn:nbn:hr:184:087163
Wisniewski, Lisa
Sveučilište u Rijeci
Medicinski fakultet

Citirajte ovaj rad

Wisniewski, L. (2023). APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA (Diplomski rad). Rijeka: Sveučilište u Rijeci, Medicinski fakultet. Preuzeto s https://urn.nsk.hr/urn:nbn:hr:184:087163

Wisniewski, Lisa. "APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA." Diplomski rad, Sveučilište u Rijeci, Medicinski fakultet, 2023. https://urn.nsk.hr/urn:nbn:hr:184:087163

Wisniewski, Lisa. "APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA." Diplomski rad, Sveučilište u Rijeci, Medicinski fakultet, 2023. https://urn.nsk.hr/urn:nbn:hr:184:087163

Wisniewski, L. (2023). 'APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA', Diplomski rad, Sveučilište u Rijeci, Medicinski fakultet, citirano: 03.04.2025., https://urn.nsk.hr/urn:nbn:hr:184:087163

Wisniewski L. APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA [Diplomski rad]. Rijeka: Sveučilište u Rijeci, Medicinski fakultet; 2023 [pristupljeno 03.04.2025.] Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:087163

L. Wisniewski, "APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA", Diplomski rad, Sveučilište u Rijeci, Medicinski fakultet, Rijeka, 2023. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:184:087163

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NaslovAPPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA
AutorLisa Wisniewski
MentorNina Pereza (mentor)
Član povjerenstvaSaša Ostojić (predsjednik povjerenstva)
Član povjerenstvaSanja Dević Pavlić (član povjerenstva)
Član povjerenstvaLara Batičić (član povjerenstva)
Ustanova koja je dodijelila
akademski / stručni stupanj		Sveučilište u Rijeci
Medicinski fakultet
Rijeka
Datum i država obrane2023-06-27, Hrvatska
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Temeljne medicinske znanosti
Genetika, genomika i proteomika čovjeka
Sažetak
Genetics is rapidly advancing, with new technologies revolutionizing research. However, opportunities provided by NGS seemingly cannot be replicated in clinics, due to lack of genetic expertise among specialists. NGS is a DNA sequencing method, allowing rapid detection of genetic variants in probands by comparison to a reference genome. NGS is an important diagnostic tool in the field of Neurology, as the prevalence of genetic factors in etiology is high, such as in a multitude of causes for... Više movement disorders, developmental delay and morphological brain anomalies, epilepsy, and other neurological diseases. The aim of this study was to assess the usefulness of NGS. A retrospective study was per-formed, evaluating the indications for NGS in Neurology and pediatric Neurology from 2018-2022, at the University of Rijeka. Of 116 NGS tests performed across 5 years, 31 pathological variants could be detected across 27 genes, providing a diagnosis for 27 patients (23%). The highest outcome of posi-tive genetic results occurred in developmental anomalies, while the lowest, compared to negative findings, was in dystonia. Genetic movement disorders were found to be more frequent in the younger population, which is in concordance with previous research. Diagnosed developmental delay is a strong indicator for NGS, especially with concomitant structural brain malformations, sei-zures, or movement disorders. NGS is the gold standard for the diagnosis of primary epi-lepsy, indicating that in Rijeka epilepsy is an underrepresented indication for NGS. In conclusion, the guidelines for applications of NGS in Neurology could be optimized, with emphasis on genetic education of neurologists. Sakrij dio sažetka
Ključne riječi
Jezikengleski
URN:NBNurn:nbn:hr:184:087163
Studijski programNaziv: Medicina
Vrsta studija: sveučilišni
Stupanj studija: integrirani preddiplomski i diplomski
Akademski / stručni naziv: doktor/doktorica medicine (dr. med.)
Vrsta resursaTekst
Način izrade datotekeIzvorno digitalna
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2023-06-27 20:26:33
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