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31.
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia : clinical characteristics, novel SERPING1 mutations, and genetic factors modifying the clinical phenotype
Vesna Grivčeva-Panovska, Mitja Košnik, Peter Korošec, Slađana Andrejević, Ljerka Karadža-Lapić, Matija Rijavec, 2018, original scientific article

Abstract: Objective: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease, characterized by swellings. We aimed to characterize on a clinical and molecular basis C1-INH-HAE patients in the Republic of Macedonia. Results: All 15 patients from six unrelated families were diagnosed with C1-INHHAE type I, with a mean age of symptom onset of 11 years and an average delay of diagnosis of 7 years. Patients reported on average 31 angioedema attacks/year, with a median clinical severity score (CSS) of 7. We identified three known mutations, and two mutations (c.813_818delCAACAA and c.1488T>G) were reported for the first time. To address the genotype-phenotype association, a pooled analysis including 78 C1-INH-HAE south-eastern European patients was performed, with additional analysis of F12-46C/T and KLKB1- 428G/A polymorphisms. We demonstrated that patients with nonsense and frameshift mutations, large deletions/insertions, splicing defects, and mutations at Arg444 exhibited an increased CSS compared with missense mutations, excluding mutations at Arg444. In addition, the CC F12-46C/T polymorphism was suggestive of earlier disease onset. Discussion: Genetic analysis helped identify the molecular basis of C1-INH-HAE given that causative mutations in SERPING1 were detected in all patients, including an infant before the appearance of clinical symptoms. We identified two novel mutations and further corroborated the genotype-phenotype relationship, wherein mutations with a clear effect on C1-INH function predispose patients to a more severe disease phenotype and CC F12-46C/T predisposes patients to earlier disease onset.
Keywords: hereditary angioedemas -- genetics -- Macedonia, C1 inhibitor, SERPING1 gene, C1 inhibitor, SERPING1 gene
Published in DiRROS: 30.11.2020; Views: 784; Downloads: 149
URL Link to file

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Ocena zamikov pri napotitvi, izvedbi diagnostike in prvega zdravljenja pri bolnikih z raki sečnega mehurja in ledvic v Sloveniji
Vesna Zadnik, Mateja Kokalj-Kokot, Klemen Černelč, Nika Bric, 2020, short scientific article

Abstract: Pri nas za ledvičnim rakom na leto povprečno zboli 370 ljudi, za rakom sečnega mehurja 320. Preživetje slovenskih bolnikov in bolnic pri teh dveh oblikah raka je že vrsto let slabše od evropskega povprečja. V povezavi treh raziskovalnih organizacij, Onkološkega inštituta Ljubljana, Katedre za družinsko medicino Univerze v Ljubljani in Kliničnega oddelka za urologijo Univerzitetnega kliničnega centra Ljubljana, smo leta 2017 uvedli projekt Celostna analiza zgodnje obravnave bolnikov z urološkimi raki z oceno zamikov pri napotitvi, izvedbi diagnostike in prvega zdravljenja, v katerem smo retrospektivno analizirali zdravstveno oskrbo slovenskih bolnikov in bolnic z raki ledvic, sečnega mehurja ali prostate. V raziskavo smo vključili vse zbolele v Sloveniji leta 2014. V tem prispevku prikazujemo rezultate ocene zamikov v zdravljenju bolnikov in bolnic z rakom ledvic in rakom sečnega mehurja. Median interval zdravstvenega sistema (čas od prvih preiskav do začetka zdravljenja) je bil pri bolnikih z rakom sečnega mehurja 35 dni, pri bolnikih z ledvičnim rakom pa 22 dni. Pri obeh rakih je največ časa poteklo med prvimi diagnostičnimi postopki in prvim pregledom pri specialistu, kar nakazuje na ozko grlo pri izvedbi diagnostičnih postopkov.
Keywords: rak sečnega mehurja, rak ledvic, register raka, napotitve
Published in DiRROS: 09.09.2020; Views: 1075; Downloads: 362
.pdf Full text (276,85 KB)

34.
Enota za paliativno oskrbo UKC Maribor
Vesna Zupanc, 2017, published professional conference contribution abstract

Keywords: paliativna medicina, onkologija
Published in DiRROS: 15.06.2020; Views: 1266; Downloads: 373
.pdf Full text (139,50 KB)

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