3,631 research outputs found

    Genetic predisposition for malignant mesothelioma: A concise review

    No full text
    Malignant mesothelioma (MM) is an aggressive cancer associated with asbestos exposure. Studies of familial malignant pleural mesothelioma (MPM) have suggested the existence of a genetic predisposition. Information on the role of genetic risk factors in the development of MM has been growing in the last years, and both low- and high-risk genetic factors have been identified, but genetic factors alone (without any exposure to asbestos or other mineral fibers) have never been shown to induce MM. Low-risk genetic factors have been identified in studies that systematically analyzed the whole genome. When considered alone these low-risk genetic factors carry a relative risk of MPM that is 10- to 15-fold lower than that carried by asbestos exposure; however, a large number of these factors in combination may increase the impact of asbestos exposure. High-risk genetic factors include truncating variants in the tumor suppressor BAP1 and in other tumor suppressor genes belonging to DNA repair pathways. Heterozygous germline variants in these genes may favor carcinogenesis if a second somatic variant occurs that impairs the wild-type allele. This impairment can cause genetic instability due to the suppression of a specific DNA repair pathway, and transformation. This genetic predisposition may have translational consequences, as it may predict patient response to drugs that induce tumor-specific synthetic lethality

    Abstract 4431: Urine microRNA profiling in bladder cancer by next-generation sequencing

    No full text
    Abstract Bladder cancer (BC) is one of the leading causes of cancer-related death worldwide. BC is among the most expensive cancer per patient because it requires frequent surveillance and repeated treatments over many years. The identification of new biomarkers for early BC detection, recurrence/progression is urgently needed to both improve patient outcomes and decrease health care costs. MicroRNAs (miRNAs) are aberrantly expressed in many cancers, including BC, and may be isolated from various biological specimens, including urine. To investigate miRNA signatures in surrogate tissues may be a useful alternative to reduce invasiveness of biopsies, allowing repetitive samplings during follow-up and reducing health care costs for detection, monitoring of progression and treatment. We aim to identify specific miRNA signatures in urine samples from 66 BC male patients (10 muscle invasive BC (MIBC) and 56 non-muscle invasive BC (NMIBC)) and 48 healthy controls using a Next Generation Sequencing (NGS) approach able to accurately distinguish BC patients and predict disease outcome. The measurement of miRNA levels in urine could allow to measure the levels of promising biomarkers in one of the best and closest surrogate tissue for BC, since it is in direct contact with the tissue of tumor origin. A specific miRNA signatures that could distinguish the different types of BC patients from healthy controls was found in urine. For MIBC, a 18-miRNAs signature had over 80% predictive power (PP) to recognize patients from controls (data are under validation). For NMIBC we were able to stratify cases according to grade. In particular, 23 miRNAs resulted differentially expressed among G1-G2 cases and controls (5 of them had PP&amp;gt;0.70), while several miRNAs resulted differentially expressed among G3 patients and controls (a 10-miRNAs signature with PP&amp;gt;0.97). Interestingly, we found several differentially expressed miRNAs in common among cases and some miRNAs that were differentially expressed only in specific subcategories of BC cases. NGS data were also used to search for the most constant miRNAs in the set of samples to be used as reference genes in a validation step. Twenty-three miRNAs (21 target and 2 reference miRNAs) were validated by qPCR on 177 urine samples from 113 BC case and 64 controls . Interestingly, miRNAs differentially expressed among cases and controls were able to discriminate not only BC cases from controls, but also its subcategories. This data provide evidences of the possibility to use miRNAs specifically within the urine of patients with BC as diagnostic, prognostic and predictive biomarkers. Acknowledgements Work supported by Fondazione Umberto Veronesi (FUV) “Post-doctoral fellowship Year 2014, 2015 and 2016” (B.P. recipient), a FUV Grant 2013 (G.M. recipient), and by a HuGeF grant. Citation Format: Barbara Pardini, Francesca Cordero, Alessio Naccarati, Giulio Ferrero, Clara Viberti, Marco Oderda, Maddalena Arigoni, Raffaele Calogero, Carlotta Sacerdote, Paolo Gontero, Paolo Vineis, Giuseppe Matullo. Urine microRNA profiling in bladder cancer by next-generation sequencing [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2017; 2017 Apr 1-5; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2017;77(13 Suppl):Abstract nr 4431. doi:10.1158/1538-7445.AM2017-4431</jats:p

    PER UNA EDIZIONE CRITICA DELLE RIME DI BARTOLOMEO CAVASSICO

    No full text
    This PhD thesis consists of: - An introductory part presenting the figure of the author, a description of the ms. bearing the Rime, an analysis of the form and content of the texts and the social, political and cultural context where they were produced; - The critical edition of fifty-four poems in italian and fifteen in Bellunese dialect. An introductory cap presents the formal characteristics of the work and provides the context, if necessary; this is followed by the text, reproduced according to generally conservative criteria; at the bottom there is a first band of apparatus, aimed at containing corrections of servile errors; a second band, containing the actual genetic apparatus, bearing any variants or previous redactions of the text; and finally the commentary, aimed at clarifying critical places and pointing out parallels with other authors. For the Bellunese texts, a full translation was also provided. - A caption index; - Two lexical indexes, for italian and Bellunese texts, bearing the notable forms; - Four appendices. Appendix I is a table containing all the poems, classified according to the following criteria: location in the ms., title, genre of the poem, language, possible addressee and brief summary, focusing, in particular, on the (recurring) themes present in the text. Appendix II houses vernacular texts not included in the edition, and Appendix III italian texts that the author has taken from other printings. Appendix IV contains the digital reproduction of six papers from ms. 396 of the Biblioteca Civica of Belluno.Questa tesi di dottorato si compone di: - Una parte introduttiva che presenta la figura dell'autore, la descrizione del ms. recante le Rime, l'analisi della forma e dei contenuti dei testi e il contesto sociale, politico e culturale in cui sono stati prodotti; - L'edizione critica commentata di cinquantaquattro poesie in volgare e quindici in dialetto bellunese. Un cappello introduttivo presenta le caratteristiche formali dell'opera e ne fornisce il contesto, qualora necessario; segue il testo, riprodotto secondo criteri generalmente conservativi; in calce si trovano una prima fascia di apparato, volta a contenere le correzioni degli errori servili, una seconda fascia, contenente l'apparato genetico vero e proprio, recante le eventuali varianti o redazioni precedenti del testo, e infine il commento, finalizzato a chiarire i luoghi critici e a segnalare paralleli con altri autori. Per i testi bellunesi si è fornita anche la traduzione integrale in calce. - Un indice dei capoversi; - Due indici lessicali, per i testi in volgare e per i testi in bellunese, recanti le forme notevoli; - Quattro appendici. L'appendice I è una tabella contenente tutti i componimenti, classificati secondo i seguenti criteri: collocazione nel ms., titolo, genere del componimento, lingua, eventuale destinatario e breve riassunto, imperniato, in particolare, sui temi (ricorrenti) presenti nel testo. L'appendice II ospita i testi in volgare non inclusi nell'edizione, mentre l'appendice III i testi in volgare che l'autore ha tratto da altre stampe. L'appendice IV contiene la riproduzione digitale di sei carte del ms. 396 della Biblioteca Civica di Belluno, attraverso la quale si possono osservare la scrittura del notaio e gli interventi sui testi

    Y chromosome diversity in Piedmont

    No full text
    Y-chromosomal variability of 17 short tandem repeat (STR) and 18 single nucleotide polymorphisms (SNP) loci was evaluated in three different population samples from Piedmont (North West Italy): Biella (Northern Piedmont, n=80); Trino (Central Piedmont, n=46); Cuneo (Southern Piedmont, n=90). Participating individuals were carefully selected based on their genealogical ancestry: Biella and Cuneo samples included adult males with at least three generations of residence (thus predating the industrial immigration from Southern Italy that took place in the 1950s); the Trino sample consisted of subjects belonging to an association dating back to the Middle-Ages, which limits membership to families who have been settled in the village since the 13th century. AMOVA analysis of Y-SNP haplogroups indicated a variation among individuals within and among sampling areas of 99.97 and 0.03% (p=0.378±0.013), respectively. Trino showed reduced values of Y-STR haplotype diversity (h=0.983), compared to Cuneo (h=0.999) and Biella (h=0.998). Absence of significant variation among sampling areas (0.10%, p=0.350±0.004) was confirmed by AMOVA at haplotype level, andno significant differences were observed when pairwise genetic distances (RST) between the three samples were calculated. On the contrary, multiple significant RST values were obtained when Piedmont samples were compared with available population data from North East, Central and South Italy. The obtained results confirm that, although the Y-chromosomal landscape of Piedmont seems fairly homogeneous, genetic heterogeneity is present in Italy at the inter regional level

    Etnografia digitale, netnografia e autoetnografia: ricerche tra vecchi punk, giovani neopagani e membri di una vasta comunità BDSM della Repubblica ceca

    No full text
    Il capitolo presenta l'esperienza personale dell'autore, con l'utilizzo dei dati e delle esperienze raccolte attraverso internet, la netnografia come forma di ricerca qualitativa e l'accettazione personale dell'autoetnografia per la comprensione di sé, dell'altro e della cultura. Saranno analizzati 12 studi e ricerche realizzate dallo stesso autore, da solo o in qualità di coautore, tra gli anni 2005 e 2019, su temi di ricerca differenti, ma concentrati su selezionate sottoculture attive nella Repubblica Ceca. Il capitolo è concepito come un'introspezione diacronica in cui l'autore descrive i suoi primi tentativi di utilizzare pagine web e discussioni in internet come fonte di citazioni in articoli scientifici, fino al raggiungimento di una metodologia netnografica più matura.The chapter presents the personal experience of the author, with the use of data and experiences collected through the internet, the netnography as a form of qualitative research, and the personal acceptance of the autoethnography for the understanding of self, other, and culture. It will be analyzed 12 studies and researches realized by the same author, alone or as co-author, between the years 2005 and 2019, on different, but connected research topics concentred on selected sub-cultures active in the Czech Republic. The chapter is conceived as a diachronic introspection where the author describes his first attempts to use web pages and internet discussions as a source of quotations in scientific papers, up to the achievement of a more mature netnographic methodology

    L'inclusione dell'altro. Profilo di Giuseppe Nicolaci

    No full text
    The author retraces the teaching of Giuseppe Nicolaci and identifies in the inclusion of alterity his distinctive profile ad a man ans a teacher

    Il monumento romano a Giuseppe Mazzini: una lunga storia (con qualche novità)

    No full text
    The monument dedicated to Giuseppe Mazzini, sculpted by Ettore Ferrari, had a long political and executive genesis that stretched from the end of the 19th century until its inauguration in 1949. Ferrari was also the author of the monument to Giordano Bruno in Campo de’ Fiori square, which was also the subject of much controversy. However, in the case of the Mazzini monument, an extensive political discussion emerged, involving prominent figures such as Francesco Crispi, Antonio Labriola, and Domenico Farini. In particular, Labriola’s influence was decisive for the political symbolism that populates the monument’s base. This symbolism was&nbsp;“censored” after World War II to be less displeasing to the Holy See.Il monumento dedicato a Giuseppe Mazzini scolpito da Ettore Ferrari ebbe luna lunga genesi politica ed esecutiva che dalla fine dell’Ottocento si protrasse fino alla sua inaugurazione nel 1949. Ferrari fu anche l’autore del monumento a Giordano Bruno in piazza Campo de’ Fiori che fu oggetto&nbsp;anche di molte polemiche. Ma nel caso del monumento a Mazzini si innestò una diffusa discussione politica alla quale presero parte figure di spicco&nbsp;come Francesco Crispi, Antonio Labriola e Domenico Farini. In particola la figura di Labriola risultò essere stata decisiva per la simbologia politica che popola il basamento del monumento. Un corredo che venne “censurato” dopo il secondo conflitto mondiale per risultare meno sgradito alla Santa Sede
    corecore