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master's thesis
Razlika u kliničkoj prezentaciji Parkinsonove bolesti ovisno o mutaciji gena za beta glukocerebrozidazu (GBA)
2024. urn:nbn:hr:152:688717
Klepo, Tara
Josip Juraj Strossmayer University of Osijek
Faculty of Medicine Osijek

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Klepo, T. (2024). Razlika u kliničkoj prezentaciji Parkinsonove bolesti ovisno o mutaciji gena za beta glukocerebrozidazu (GBA) (Master's thesis). Osijek: Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek. Retrieved from https://urn.nsk.hr/urn:nbn:hr:152:688717

Klepo, Tara. "Razlika u kliničkoj prezentaciji Parkinsonove bolesti ovisno o mutaciji gena za beta glukocerebrozidazu (GBA)." Master's thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, 2024. https://urn.nsk.hr/urn:nbn:hr:152:688717

Klepo, Tara. "Razlika u kliničkoj prezentaciji Parkinsonove bolesti ovisno o mutaciji gena za beta glukocerebrozidazu (GBA)." Master's thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, 2024. https://urn.nsk.hr/urn:nbn:hr:152:688717

Klepo, T. (2024). 'Razlika u kliničkoj prezentaciji Parkinsonove bolesti ovisno o mutaciji gena za beta glukocerebrozidazu (GBA)', Master's thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, accessed 19 November 2024, https://urn.nsk.hr/urn:nbn:hr:152:688717

Klepo T. Razlika u kliničkoj prezentaciji Parkinsonove bolesti ovisno o mutaciji gena za beta glukocerebrozidazu (GBA) [Master's thesis]. Osijek: Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek; 2024 [cited 2024 November 19] Available at: https://urn.nsk.hr/urn:nbn:hr:152:688717

T. Klepo, "Razlika u kliničkoj prezentaciji Parkinsonove bolesti ovisno o mutaciji gena za beta glukocerebrozidazu (GBA)", Master's thesis, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, Osijek, 2024. Available at: https://urn.nsk.hr/urn:nbn:hr:152:688717

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Metadata
TitleRazlika u kliničkoj prezentaciji Parkinsonove bolesti ovisno o mutaciji gena za beta glukocerebrozidazu (GBA)
Title (english)Difference in Parkinson`s disease clinical presentation depending on mutation in gene for beta glucocerebrosidasis (GBA)
AuthorTara Klepo
MentorSvetlana Tomić (mentor)
Committee memberKrunoslav Buljan (predsjednik povjerenstva)
Committee memberIvanka Štenc Bradvica (član povjerenstva)
Committee memberSvetlana Tomić (član povjerenstva)
GranterJosip Juraj Strossmayer University of Osijek
Faculty of Medicine Osijek
Osijek
Defense date and country2024-09-23, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Abstract
CILJ: Ciljevi istraživanja bili su utvrditi učestalost GBA mutacije, ispitati razliku u pojavnosti nemotoričkih simptoma, težini motoričkih simptoma prije početka terapije te ispitati razliku u ukupnoj dopaminergičkoj terapiji kod zadnjeg pregleda između skupina bolesnika ovisno o prisutnoj GBA mutaciji. NACRT STUDIJE: Istraživanje je oblikovano kao presječno s povijesnim podacima. ISPITANICI I METODE: U istraživanju je sudjelovalo 89 pacijenata oboljelih od Parkinsonove bolesti koji su prethodno testirani na GBA mutaciju. Za potrebe istraživanja koristila se medicinska dokumentacija Klinike za neurologiju KBC Osijek. REZULTATI: Petero pacijenata (5,6 %) bili su heterozigoti za GBA mutaciju, a 84 (94,4 %) nisu. Prosječna životna dob ispitanika s prisutnom GBA mutacijom pri pojavi prvih motoričkih simptoma iznosila je 63,2 godine, a u ispitanika bez GBA mutacije 58,9 godine. Zbog nepotpunih podataka u daljnju statističku obradu uključena su 74 ispitanika, 50 muškaraca (67,6 %) i 24 žene (32,4 %). Nije uočena statistički značajna razlika u učestalosti nemotoričkih simptoma, težini motoričkih simptoma kod prvog neurološkog pregleda niti u visini LEDD-a kod zadnjeg neurološkog pregleda u ovisnosti o prisutnoj GBA mutaciji. ZAKLJUČAK: Učestalost ispitanika s GBA mutacijom iznosi 5,6 %. U ovom radu nije utvrđeno da GBA mutacija utječe na raniju pojavnost bolesti, veću učestalost nemotoričkih simptoma, težinu motoričkih simptoma i stadija bolesti niti iznos LEDD-a.
Abstract (english)
OBJECTIVES: The aims of the study were to determine the frequency of GBA mutation, to examine the difference in the occurrence of non-motor symptoms, the severity of motor symptoms before the start of therapy, and to examine the difference in overall dopaminergic therapy at the last examination between groups of patients depending on the presence of the GBA mutation. STUDY DESIGN: The research is designed as cross-sectional with historical data. SUBJECTS AND METHODS: 89 patients with Parkinson's disease who were previously tested for GBA mutation participated in the study. For the purposes of the research, the medical documentation of the KBC Osijek Neurology Clinic was used. RESULTS: Five patients (5.6 %) were heterozygous for the GBA mutation, and 84 (94.4 %) were not. The average life age of subjects with a present GBA mutation at the onset of the first motor symptoms was 63.2 years, and in subjects without a GBA mutation 58.9 years. Due to incomplete data, 74 subjects, 50 men (67.6 %) and 24 women (32.4 %) were included in further statistical processing. No statistically significant difference was observed in the frequency of non-motor symptoms, the severity of motor symptoms at the first neurological examination, nor in the LEDD at the last neurological examination depending on the presence of the GBA mutation. CONCLUSION: The frequency of subjects with GBA mutation is 5.6 %. In this paper, it was not determined that the GBA mutation affects the earlier occurrence of the disease, the higher frequency of non-motor symptoms, the severity of motor symptoms and the stage of the disease, or the amount of LEDD.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:152:688717
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 on2024-10-30 07:53:52