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Sistematični pregled genetskih sprememb povezanih s sočasno prisotnostjo orofacialne shize in prirojene srčne napake = Systematic review of genetic variants associated with the simultaneous presence of orofacial cleft and congenital heart defect : magistrski študijski program Laboratorijska biomedicinaLešnik, Nika, farmacevtkaPrirojene napake veljajo za enega izmed glavnih vzrokov neonatalne umrljivosti v današnjem razvitem svetu. Med najpogostejše spadajo orofacialne shize in prirojene srčne napake. Orofacialna shiza je ... prirojen razcep ustnice, neba ali čeljustnega grebena, lahko pa gre za kombinacijo vsega. Predstavlja velik estetski in funkcionalni problem, saj v različnih oblikah in stopnjah združuje nosno in ustno votlino. Prirojena srčna napaka pa nastane kot posledica motenega razvoja srca in/ali velikih žil. Pojavlja se v različnih segmentih srca in jih povezuje med sabo. Kljub veliki razširjenosti in pomembnosti orofacialnih shiz in prirojenih srčnih napak, je genetsko ozadje vzroka njunega sočasnega pojava slabo poznano. Število genov, vpletenih v njun razvoj, je namreč zelo veliko. Cilj magistrske naloge je tako bil izboljšati genetsko diagnostiko bolnikov z orofacialnimi shizami in prirojenimi srčnimi napakami, saj lahko le z razumevanjem in prepoznavo mehanizmov njunega sočasnega pojava, delujemo preventivno in takšne primere hitro obravnavamo. V magistrski nalogi smo zato izvedli sistematični pregled literature, kjer smo iskali vse poročane genetske spremembe pri bolnikih s sočasno prisotnostjo orofacialne shize in prirojene srčne napake. Po postavitvi iskalnega profila smo v bazi podatkov PubMed poiskali ustrezno literaturo. Definirali smo vključitvene kriterije in nato obravnavali tiste študije, ki so postavljenim kriterijem ustrezale. Takšnih študij je bilo 210, v sklopu katerih smo identificirali 611 primerov posameznikov z več kot 150 različnimi genetskimi spremembami in s sočasno prisotnostjo obeh fenotipov. Najpogostejša genetska sprememba izmed vseh je bila mikrodelecija 22q11, ki smo jo zaznali kar 364-krat. Ostale pogoste genetske spremembe so bile mutacije v genih PGM1, MEIS2, STAG2, BMP2, PGAP3 in RPL5, delecija 15q14, terminalne delecije 4q in trisomija 22, 10 in 9. Nekatere genetske spremembe so pripadale tudi znanim sindromom, ki so jih že uspeli povezati s sočasno prisotnostjo obeh fenotipov. Najpogostejši sindromi so bili sindromi CATCH 22, CHARGE, Emanuel, Wolf-Hirschhorn, Loeys Dietz tipa 1 in 2, Okamoto, Patau in Say-Barber-Biesecker-Young-Simpson. V vseh spremembah, ki niso bile sekvenčne, smo v literaturi poiskali še vse gene, ki jih povezujemo s hkratno prisotnostjo obeh fenotipov. Takšni geni so bili geni TGFBR1, TGFBR2, CHD7, TBX1, MAPK1, HIC2, HIRA, MEIS2, STAG2, BMP2, PDGFC, PGM1, PGAP3, PTCH1, RPL5, HNRNPK, SORBS2, KAT6B in DGCR2.Type of material - master's thesis ; adult, seriousPublication and manufacture - Ljubljana : [N. Lešnik], 2022Language - slovenianCOBISS.SI-ID - 122443523
Author
Lešnik, Nika, farmacevtka
Other authors
Karas Kuželički, Nataša |
Slavec, Lara, farmacevtka
Topics
Genetske bolezni |
Srčne napake |
orofacialne shize |
prirojene srčne napake |
genetske spremembe |
sistematični pregled literature
Author | Lešnik, Nika, farmacevtka |
Title | Sistematični pregled genetskih sprememb povezanih s sočasno prisotnostjo orofacialne shize in prirojene srčne napake = Systematic review of genetic variants associated with the simultaneous presence of orofacial cleft and congenital heart defect : magistrski študijski program Laboratorijska biomedicina |
Publication date | 2022-09-30 |
COBISS.SI-ID | 122443523 |
Publication version in repository | Postprint, author's finally reviewed version, accepted for publication |
Publication licence | Other (Public Domain) |
Embargo | Immediate publication for public |
Project(s) from which the publication was funded
Title | Acronym | Project ID | Funder |
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Novi izzivi folatne terapije v porodništvu in ginekologiji | J3-8207-2017 |
Javna agencija za znanstvenoraziskovalno in inovacijsko dejavnost Republike Slovenije |
Files that belong to the publication
Link |
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https://repozitorij.uni-lj.si/IzpisGradiva.php?id=141520 |
Library/institution |
City | Acronym | For loan | Other holdings |
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Faculty of Pharmacy, Ljubljana | Ljubljana | FFALJ |
reading room 1 cop.
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DRS, in which the journal is indexed
Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Lešnik, Nika, farmacevtka | |
Karas Kuželički, Nataša | 21459 |
Slavec, Lara, farmacevtka | 51882 |
Source: Personal bibliographies
and: SICRIS
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