1. Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of ageMirjam Cvelbar, Marko Hočevar, Srdjan Novaković, Vida Stegel, Andraž Perhavec, Mateja Krajc, 2017, original scientific article Abstract: In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years. Patients and methods. All clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities. Results. Compliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected. Conclusions. The rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to all EOC patients younger than 50 years. Regarding clinical data, it is important to perform their re-interpretation in everyday clinical practice, because this may influence therapeutic possibilities to be offered.
Keywords: ovarian cancer, BRCA 1/2, genetic counseling
Published in DiRROS: 24.05.2024; Views: 85; Downloads: 32
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2. Physical therapy of rotator cuff injuries of olympic weightlifters – a systematic literature reviewJanez Konjar, Živa Vida Arko, 2023, review article Abstract: From an injury-rate standpoint, Olympic weightlifting is a relatively safe sport. Despite that, a large number of repetitions, the ballistic nature of the lifts and the high forces sustained by the shoulder joint during their execution can lead to shoulder inju-ries, specifically rotator cuff injuries. The purpose of this paper was to investigate the scientifically proven physiotherapy methods and what their indications are when deal-ing with rotator cuff injuries of Olympic weightlifters.A qualitative literature review method was used, and the following online databases were included: PubMed, Scopus, Wiley, and PEDro in ResearchGate. The keywords in the literature search were: rotator cuff, shoulder, injury, physiotherapy, sport, weight-lifting and Olympic weightlifting. The final analysis included fully published and ac-cessible research papers in English from 2012 onwards, focusing on the physiotherapy of rotator cuff injuries.In total, 16 research papers were included in the final review. Management of rota-tor cuff injuries is a complex process, especially in sports with overhead movements. We found that the success and effectiveness of the physiotherapy process can be im-proved through a proper combination of kinesiotherapy, physical agent modalities, manual methods and other forms of therapy. The choice of the specific methods and their duration depends on the pathology of the individual injury. Further research focusing on Olympic weightlifting is needed to create precise and conclusive guidelines for rehabilitation, especially for sport specific phases occurring later in the rehabilitation process.
Keywords: Olympic weightlifting, rotator cuff, rehabilitation, injuries, physiotherapy
Published in DiRROS: 16.04.2024; Views: 110; Downloads: 71
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3. Genotyping of BRCA1, BRCA2, p53, CDKN2A, MLH1 and MSH2 genes in a male patient with secondary breast cancerAna Lina Vodušek, Srdjan Novaković, Vida Stegel, Berta Jereb, 2011, original scientific article Published in DiRROS: 18.03.2024; Views: 147; Downloads: 43
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4. Rapid detection of most frequent Slovenian germ-line mutations in BRCA1 gene using real-time PCR and melting curve analysisSrdjan Novaković, Vida Stegel, 2005, original scientific article Abstract: Background. Detection of inherited mutations in cancer susceptibility genes isof great importance in some types of cancers including the colorectal cancer(mutations of APC gene in familial adenomatous polyposis -FAP, mutationsin mismatch repair genes in hereditary nonpolyposis colorectal cancer- HNPCC), malignant melanoma (mutations in CDKN2A and CDK4 genes) and breast cancer (mutations in BRCA1 and BRCA2 genes). Methods. This article presents the technical data for the detection of five mutations in BRCA1 gene in breast cancer patients and their relatives. The mutations - 1806C>T, 300T>G, 300T>A, 310G>A, 5382insC -were determined by the real-time PCR and themelting curve analysis. Results and conclusion. In comparison to direct sequencing, this method proved to be sensitive and rapid enough for the routine daily determination of mutations in DNA isolated from the peripheral blood.
Published in DiRROS: 14.02.2024; Views: 185; Downloads: 47
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7. Pomen humanih virusov papiloma pri odkrivanju in preprečevanju raka materničnega vratu - kje smo danesMarjetka Uršič-Vrščaj, Sonja Bebar, Andrej Možina, Stelio Rakar, Iztok Takač, Vida Stržinar, Aleš Vakselj, 2006, published professional conference contribution Abstract: Izhodišča. S pomočjo organiziranih programov presejanja se je zmanjšala umrljivost zaradi raka materničnega vratu. Humani virusi papiloma (HPV) povzročajo predrakave spremembe in raka materničnega vratu. Številne ugotovitve kažejo, da je z vključevanjem testa HPV mogoče izboljšati uspešnost presejalnih programov. Test HPV se omenja pri presejanju, pri triažiranju bolnic z začetno patološkimi brisi materničnega vratu in po zdravljenju predrakavih sprememb. Visoka negativna napovedna vrednost dvakrat negativnega testa, testa PAP in testa HPV, naj bi na področju presejanja omogočala določene spremembe, kot so podaljševanje priporočenega rednega intervala presejanja, prilagajanje starosti ter ponovno presejanje po zdravljenju predrakavih sprememb. Test HPV je klinično pomemben pri triažiranju žensk s ponavljajočimi se atipičnimi ploščatimi celicami, pri katerih je potrebna kolposkopija. Zaradi visoke prevalence okuženosti s HPV se test HPV kaže kot omejitev pri zelo mladih ženskah z blago diskariotičnimi celicami. Zaključki. Ugotovitve o HPV nakazujejo možnosti za preprečevanje raka materničnega vratu na področju profilaktičnega cepljenja. V svetovnem merilu HPV 16 in 18 povzročata 70 % raka materničnega vratu. V prihodnjem letu naj bi bili dostopni dve profilaktični cepivi, učinkoviti proti HPV 16 in 18.
Published in DiRROS: 05.12.2023; Views: 292; Downloads: 63
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9. Molekularno genetsko testiranje pri raku telesa materniceVida Stegel, Srdjan Novaković, 2023, published scientific conference contribution Abstract: V grobem tumorje telesa maternice delimo na endometrijske epitelne, mezenhimske, mešane epitelne in mezenhimske in druge. Karcinom endometrija, ki sodi med epitelne tumorje, predstavlja večino (80-90 %) vseh malignih bolezni telesa maternice. Sarkomi predstavljajo 2- 5 % vseh malignih bolezni telesa maternice. Molekularno genetske preiskave se pri obravnavi tumorjev telesa maternice uporabljajo za namen odkrivanja različic/markerjev pomembnih za diagnozo, prognozo ali zdravljenje bolezni. Pato-histološka klasifikacija karcinoma endometrija je v preteklosti temeljila predvsem na morfoloških značilnostih tumorja, v zadnjem času pa se je izoblikovala histološko-molekularna klasifikacija, ki upošteva tudi molekularne značilnosti tumorja. Upoštevajoč molekularno klasifikacijo TCGA (The Cancer Genome Atlas), pri karcinomih endometrija ločimo med POLE-ultramutirani tumorji, mikrosatelitno nestabilnimi tumorji, tumorji s številnimi spremembami v številu kopij genov in tumorji z maloštevilnimi spremembami v številu kopij genov. Molekularne podskupine karcinoma endometrija so tudi neodvisen prognostični dejavnik. Določene molekulano genetske lastnosti vplivajo tudi na izbiro zdravljenja.
Keywords: rak maternice, ginekološki raki, molekularna diagnostika
Published in DiRROS: 30.05.2023; Views: 436; Downloads: 146
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10. Imunski fenotipi v mikrookolju primarnega tumorja in jetrnih zasevkov pri bolnici s silovitim razsojem vnetnega, trojno negativnega raka dojke v jetra med neoadjuvantnim zdravljenjem s citostatiki in zaviralcem imunskih kontrolnih točkMarina Mencinger, Snežana Pavlović Djokić, Vida Stegel, Srdjan Novaković, Juan Antonio Contreras, Andreja Klevišar Ivančič, 2022, published professional conference contribution abstract Keywords: onkologija, rak dojke, kemoterapija
Published in DiRROS: 03.02.2023; Views: 426; Downloads: 110
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