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Difuzne palmoplantarne keratodermije v SlovenijiMiljković, Jovan, 1949- ...Pri raziskovanju dednih bolezni keratinizacije ugotavljamo, da pri ekspresiji avtosomno dominantnih dednih bolezni, poleg dominantnega gena, sodelujejo še nekateri drugi dejavniki. To ugotovitev smo ... poskušali dokazati na osnovi temeljite epidemiološke raziskave difuznih oblik palmoplantarne keratodermije (DPPK) v Sloveniji. Podatke o bolnikih v populaciji Slovenije za zadnjih 30 let (1973 - 2003) smo pridobili iz medicinske dokumentacije vseh dermatoloških oddelkov in ambulant v Sloveniji ter z raziskovanjem na terenu. Odkrili smo 170 bolnikov z DPPK, od tega 34 izoliranih primerov (20 %). Prevalenca DPPK je 8.3 : 100.000. Razmerje bolni/zdravi v prizadetih družinah je 0.485. Razlika v udeležbi obolelih statistično značilno odstopa od 50 % (eksakten binomski test: p<0,00001). Rezultat ocene pojava bolezni kaže avtosomno dominantni način dedovanja (p=0,37406). Večina bolnikov je iz majhnih, oddaljenih planinskih krajev. Primerjava prevalence v žariščih s prevalenco v celotni populaciji: razlika v udeležbi bolanih je statistično značilna (hi-quadrat test: p<0,00001). Med mlajšimi generacijami je manj bolnikov, prav tako je simptomatika manj izražena. Visoka prevalenca DPPK v majhnih krajih je verjetno posledica večje koncentracije neugodnih kombinacij v genomih pod vplivom lokalnih dejavnikov. Najpomembnejši lokalni dejavnik pri pojavu DPPK je vsekakor določen odstotek konsagvinosti. Težko fizično delo je dejavnik, ki še dodatno vpliva na ekspresijo bolezni.Source: Strokovno izpopolnjevanje iz dermatologije z mednarodno udeležbo : zbornik predavanj (Str. 27-40)Type of material - conference contribution ; adult, seriousPublish date - 2004Language - slovenianCOBISS.SI-ID - 1727295
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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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Miljković, Jovan, 1949- | 16252 |
Kansky, Aleksej | 01174 |
Arzenšek, Jože, 1942- | 14192 |
Vidmar, Gaj | 17837 |
Kokol, Peter, 1957- | 03782 |
Source: Personal bibliographies
and: SICRIS
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