Family history (FH) is an important part of the patients' medical history during preventive management at model family medicine practices (MFMP). It currently includes a one (or two) generational ...inquiry, predominately in terms of cardiovascular diseases, arterial hypertension, and diabetes, but not of other diseases with a probable genetic aetiology. Beside family history, no application-based algorithm is available to determine the risk level for specific chronic diseases in Slovenia.
A web application-based algorithm aimed at determining the risk level for selected monogenic and polygenic diseases will be developed. The data will be collected in MFMP; approximately 40 overall with a sample including healthy preventive examination attendees (approximately 1,000). Demographic data, a three-generational FH, a medical history of acquired and congenital risk factors for the selected diseases, and other important clinical factors will be documented.
The results will be validated by a clinical genetic approach based on family pedigrees and the next-generation genetic sequencing method. After the risk of genetic diseases in the Slovenian population has been determined, clinical pathways for acting according to the assessed risk level will be prepared.
By means of a public health tool providing an assessment of family predisposition, a contribution to the effective identification of people at increased risk of the selected monogenic and polygenic diseases is expected, lessening a significant public health burden.
Moji predniki po očetovi strani so kmetovali na domačiji Zavornik (po domače Zavarjek) v vasi Bodrež pri Šentvidu pri Grobelnem. Pri raziskovanju zgodovine mojih prednikov za namen priprave ...družinskega drevesa mi je uspelo najdlje prodreti v sredino 19. stoletja, v leto 1850, ko sta se poročila Miha Arzenšek in Marija Tkavc. Rodilo se jima je pet otrok: Ursula, Marija, Jakob, Lucija in Štefan. Njune hčere so se poročile na bližnje kmetije, domačijo pa je prevzel starejši sin Jakob, ki se je poročil z Antonijo Lorgar. Rodili so se jima štirje otroci: Julijana, Frančiška, Franc in Jožef. Ob raziskovanju me je doletelo prijetno presenečenje, ko sem ugotovila, da sva si z mojo dobro prijateljico iz otroških let Cvetko Škoflek, roj. Žmaher v sorodu. Jožef je bil namreč njen stari ata, njen pradedek Jakob in moj pradedek Štefan pa sta bila brata.Moj pradedek Štefan je bil najmlajši od otrok Mihe Arzenška in Marije roj. Tkavc. Pri triindvajsetih se je poročil z enaindvajsetletno Ano Žmahar iz Platinovca. Prva leta sta živela pri sorodnikih v Bodrežu, kjer se je rodila prva hči Marija. Po preselitvi v Grobelno, kjer sta si ustvarila lasten dom, pa se jima je rodilo še sedem otrok in ena izmed njih je bila moja stara mama Julijana. Umrl je pred skoraj 101 letom, 19. januarja 1921. Foto: Franz Steuer, Lipnica (Leibnitz)Prispevala: Romana Pernovšek
Razstava o dr. Josipu VošnjakuOrganizatorja:Zavod za kulturo Slovenska Bistrica in Knjižnica Josipa Vošnjaka Slovenska BistricaPokrovitelj:Občina Slovenska Bistrica
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