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master's thesis
UČESTALOST PRIROĐENIH SRČANIH GREŠAKA KOD RIJETKIH KROMOSOMOPATIJA U KBC-u SPLIT U RAZDOBLJU OD 2016. - 2019.
2020. urn:nbn:hr:171:217717
Perić, Diana
University of Split
School of Medicine
Pediatrics

Cite this document

Perić, D. (2020). UČESTALOST PRIROĐENIH SRČANIH GREŠAKA KOD RIJETKIH KROMOSOMOPATIJA U KBC-u SPLIT U RAZDOBLJU OD 2016. - 2019. (Master's thesis). Retrieved from https://urn.nsk.hr/urn:nbn:hr:171:217717

Perić, Diana. "UČESTALOST PRIROĐENIH SRČANIH GREŠAKA KOD RIJETKIH KROMOSOMOPATIJA U KBC-u SPLIT U RAZDOBLJU OD 2016. - 2019.." Master's thesis, University of Split, School of Medicine, 2020. https://urn.nsk.hr/urn:nbn:hr:171:217717

Perić, Diana. "UČESTALOST PRIROĐENIH SRČANIH GREŠAKA KOD RIJETKIH KROMOSOMOPATIJA U KBC-u SPLIT U RAZDOBLJU OD 2016. - 2019.." Master's thesis, University of Split, School of Medicine, 2020. https://urn.nsk.hr/urn:nbn:hr:171:217717

Perić, D. (2020). 'UČESTALOST PRIROĐENIH SRČANIH GREŠAKA KOD RIJETKIH KROMOSOMOPATIJA U KBC-u SPLIT U RAZDOBLJU OD 2016. - 2019.', Master's thesis, University of Split, School of Medicine, accessed 19 March 2023, https://urn.nsk.hr/urn:nbn:hr:171:217717

Perić D. UČESTALOST PRIROĐENIH SRČANIH GREŠAKA KOD RIJETKIH KROMOSOMOPATIJA U KBC-u SPLIT U RAZDOBLJU OD 2016. - 2019. [Master's thesis]. Split: University of Split, School of Medicine; 2020 [cited 2023 March 19] Available at: https://urn.nsk.hr/urn:nbn:hr:171:217717

D. Perić, "UČESTALOST PRIROĐENIH SRČANIH GREŠAKA KOD RIJETKIH KROMOSOMOPATIJA U KBC-u SPLIT U RAZDOBLJU OD 2016. - 2019.", Master's thesis, University of Split, School of Medicine, Split, 2020. Available at: https://urn.nsk.hr/urn:nbn:hr:171:217717

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Metadata
TitleUČESTALOST PRIROĐENIH SRČANIH GREŠAKA KOD RIJETKIH KROMOSOMOPATIJA U KBC-u SPLIT U RAZDOBLJU OD 2016. - 2019.
Title (english)FREQUENCY OF CONGENITAL HEART DEFECTS IN RARE CHROMOSOMOPATHIES IN UNIVERSITY HOSPITAL OF SPLIT FROM 2016-2019
AuthorDiana Perić
MentorBernarda Lozić (mentor)
Committee memberJoško Markić (predsjednik povjerenstva)
Committee memberBranka Polić (član povjerenstva)
Committee memberZenon Pogorelić (član povjerenstva)
GranterUniversity of Split
School of Medicine
(Pediatrics)
Split
Defense date and country2020, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Pediatrics
Abstract
Cilj: Cilj istraživanja bio je odrediti učestalost PSG među rijetkim strukturnim kromosomskim aberacijama te utvrditi utječe li prisutnost PSG na ranije otkrivanje istih. Ispitanici i metode: Provedeno je retrospektivno presječno istraživanje u razdoblju od 1.1.2016. do 31.12.2019. pri Citogenetskom laboratoriju KBC-a Split i Ambulanti medicinske genetike. Izdvojena je arhivirana medicinska dokumentacija 85 ispitanika kojima je metodama klasične citogenetike, FISH-a i CMA dokazana rijetka kromosomopatija, a kod 23 ispitanika utvrđena je prirođena srčana greška. Prikazani su podaci o dobi, spolu, kariotipu i lokusu kromosomske aberacije, tipu prirođene srčane greške te su izdvojeni ultrarijetki slučajevi u kojima smo pored PSG prikazali i ekstrakardijalne manifestacije. Rezultati: Kod 23 (27,1%) ispitanika s rijetkom strukturnom kromosomskom aberacijom pronađena je prirođena srčana greška, a među njima prevladavali su ispitanici s mikrodelecijskim sindromima 18/23. Medijan dobi ispitanika pri dijagnozi strukturne kromosomske aberacije je 5,28 godina. Kod ispitanika s PSG u ranijoj dobi se postavila dijagnoza (medijan=4,09 godina) u odnosu na ispitanike bez PSG (medijan=7,57 godina). Neuparenim dvosmjernim Studentovim T testom dobivena je statistički značajna razlika P=0,028. Ventrikularni septalni defekt najzastupljenija je srčana greška pronađena kod 8 (22,2%) ispitanika. Najučestaliji mikrodelecijski sindrom s PSG bio je DiGeorge 7 od 9 ispitanika imalo je PSG, a najzastupljenija srčana greška kod njih bili su konotrunkalni defekti (50.1%). Taj podatak uspoređen je sa studijom opće populacije te je Fisher's exact testom dobivena statistički značajna razlika (P=0.042). Među ultrarijetkim strukturnim kromosomskim aberacijama s PSG, pronađeno je 5 patogenih varijanti, 2 vjerojatno patogene varijante te 5 varijanti nepoznatog značenja na različitim kromosomskim lokusima. Zaključci: Rijetke kromosomske aberacije s PSG dijagnosticiraju se u ranijoj životnoj dobi u odnosu na one bez PSG što ukazuje da se zbog vitalne ugroženosti ispitanika ranije upućuju na genetička testiranja. Pojavnosti PSG među ultrarijetkim strukturnim kromosomskim aberacijama otvara nova istraživanja o varijantama različitih gena koji su odgovorni za nastanak PSG. Rezultati dobiveni u ovom istraživanju, slični su podacima iz dosadašnje literature.
Abstract (english)
Objectives: The aim of the study was to determine the frequency of congenital heart defects (CHD) among rare structural chromosomal aberrations and to determine whether the presence of CHD affects their earlier detection. Patients and Methods: A retrospective cross-sectional survey was conducted from 1.1.2016. to 31.12.2019. at the Cytogenetic Laboratory of University Hospital of Split. Archived medical documentation of 85 subjects was determined, by which classical cytogenetics, FISH and CMA methods determined microdeletion or microduplication. In 23 subjects a congenital heart defect was determined. Data on age, sex, karyotype and locus of chromosomal aberration, type of congenital heart defects and extracardiac manifestations and growth retardation are presented. Results: In this study, subjects with microdeletion syndromes predominated (64.7%), while the distribution of subjects by gender showed slightly more male subjects. Congenital heart defect was found in 23 (27.1%) subjects with rare structural chromosomal aberration. The median age at diagnosis of structural chromosomal aberration is 5.28 years. Subjects with PSG were diagnosed earlier (median = 4.09 years), while subjects without PSG were more difficult to diagnose (median = 7.57 years). (P <0.05). Ventricular septal defect is the most common heart defect found in 8 (22.2%) subjects. A total of 7 of 9 subjects (77.8%) with DiGeorge syndrome in this study had PSG. This data was compared with a study of the general population and Fisher's exact test obtained a statistically significant difference (P = 0.042). Of the PSG found in DiGeorge syndrome, the most common are conotruncal defects (50.1%). Among ultra-rare structural chromosomal aberrations, 5 pathogenic variants, 2 probably pathogenic variants and 5 variants of uncertain significance were found. Conclusions: Rare chromosomal aberrations with CHD are diagnosed at an earlier age compared to those without CHD, which indicates that due to the vital threat to the subjects, genetic tests are referred earlier. The occurrence of CHD among ultra-rare structural chromosomal aberrations opens up new research on variants of different genes responsible for CHD formation. The results obtained in this study are similar to the data from the previous literature.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:171:217717
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
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Created on2020-08-28 11:38:26