43 research outputs found

    Celestino Schiaparelli: Librarian

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    · The Schiaparelli Library was donated by Celestino Schiaparelli’s wife Maria to the Oriental School in 1920. It is an academic’s library, but also and above all a librarian’s library: Schiaparelli worked in fact aslibrarian at the Accademia dei Lincei for 27 years, and also obtained ministerial appointments and positions relating to libraries as an Arabist. Many of the obsessions characteristic of the profession are recognisable in his library, and rigorous attention is paid to sources that can help identify editions, especially those in Arabic. Commentsfrom authoritative scholars and reviews are also noted, especially for works in European languages. In fact, on Arabic volumes we often find the reference to the two volumes of Carl Brockelmann’s Geschichte der arabischen Litteratur, with volume and page number, as well as indications of the date of birth and death of the authors. All these elements were noted, as well as the numbers and letters found on each volume, in order to verify whether an internal classifcation of the library as conceived by Schiaparelli himself is tenable. Our contribution, then, can be considered an attempt to show Schiaparelli’s ambition to build up his library as a collection which – following the Gessnerian aspiration towards a collection of all thebooks indispensable to an Arabist – brings indications and cross-references from one work to theother to its volumes, similar to actual catalogue cross-references. It is a library that speaks first and foremost to the librarian, and tells us about the librarian as well as the Arabist

    Una biblioteca nella biblioteca. Singolarità e caratteristiche del Fondo Bertuccioli

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    La biblioteca del professore Giuliano Bertuccioli è stata donata al Dipartimento ISO dell’Università La Sapienza di Roma nel 2014 dal figlio Bruno unitamente a un prezioso archivio personale. La donazione è stata collocata nella sala principale della biblioteca ISO seguendo fedelmente l’ordinamento originario del materiale librario documentato da un centinaio di foto scattate in casa Bertuccioli prima che le operazioni di trasloco avessero inizio. Le monografie e tutte le opere in fotocopia rilegate sono stati suddivisi in 23 sezioni in base a una macrodivisione per argomento; a seguire sono stati posti i periodici (155 titoli), mentre l’archivio occupa una sezione a parte nello stesso armadio. La sigla di collocazione è BAI, acronimo di Bertuccioli Ambasciatore Italiano e le singole sezioni si succedono seguendo l’alfabeto. Al momento attuale sono stati attribuiti circa 13.000 inventari, e possiamo ragionevolmente affermare che la catalogazione dell’intero fondo verrà terminata entro il 2022. Se può essere accolta la definizione di biblioteca d'autore come “una raccolta libraria privata e personale che, per le sue caratteristiche interne, tramite i singoli documenti e nell'insieme della collezione, sia in grado di testimoniare l'attività intellettuale, la rete di relazioni, il contesto storico culturale del suo possessore”, in questo mio intervento vorrei dimostrare come la biblioteca del Professore sia ascrivibile a tutti gli effetti a questa categoria, fornendo anche esempi delle evidenze contenute nei volumi, siano esse dediche, appunti, osservazioni, fogli sciolti, ritagli, note relative all’acquisto. Si tratta di una straordinaria testimonianza di come la biblioteca sia stata intesa sia come supporto alla propria attività di ricerca che come organismo vivente e in crescita con proprie relazioni interne costruite in decenni di studio, ma anche come punto di riferimento per gli studi di settore. Risulta altresì molto interessante il modo in cui questo fondo si sia integrato nella preesistente biblioteca dipartimentale, divenendone una parte fondamentale e caratterizzante, nonché fonte di conoscenze e riflessioni anche per i bibliotecari

    京華 図案: 後編上

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    Scheda di catalogo BiblioUniTS 44 pagine, formato verticale con rilegatura cucita di tipo fukurotojii (fogli doppi cuciti sul dorso) a 4 nodi e pagine a sacchetto con un foglio di rinforzo interno. Tavole in xilografia policroma. Consulenze scientifiche: Ikko Kodama, Antonella Fallerini Percorso narrativo - smaTs </center

    Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome

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    Background and objectives X-linked Alport syndrome (X-AS) is caused by mutations of the COL4A5 gene, which encodes for the collagen IV a5 chain (a5[COLIV]), resulting in structural and functional abnormalities of the glomerular basement membrane (GBM) and leading to CKD. The aim of the present study was to evaluate the prognostic value of residual collagen IV chain expression in the GBM of patients with X-AS. Design, setting, participants, &amp; measurements The medical records of 22 patients with X-AS from 21 unrelated families collected between 1987 and 2009 were reviewed (median age at last follow-up, 19.9 years; range, 5.4-35.1 years); GBM expression of a1, a3, and a5(COLIV) chains was assessed by immunofluorescence microscopy. Results GBM distribution of the a5(COLIV) chain was diffuse in 1 and segmental or absent in 21 of the 22 patients; the expression of the a3(COLIV) chain was diffuse in 5 of 22 patients and segmental or absent in 17 of 22 patients. Patients with diffuse staining for the a3(COLIV) chain presented with proteinuria significantly later (median age, 16.9 versus 6.1 years; P=0.02) and reached an estimated GFR &lt; 90 ml/min per 1.73 m2 at an older age (median age, 27.0 versus 14.9 years; P=0.01) compared with patients with segmental or absent staining. Two thirds of patients with abnormal a3(COLIV) expression by immunofluorescence studies had null or truncating COL4A5 mutations, as opposed to none of the 4 tested patients with diffuse a3(COLIV) chain glomerular distribution. © 2013 by the American Society of Nephrology

    Dionysios Solomós: dall’isola di Zante la formazione del linguaggio poetico neogreco

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    The purpose of this essay is to investigate the issue of linguistic identity in countries in which geographical and cultural boundaries are not clearly defined, as in the case of modern Greece and the Ionian Islands. This issue will be pursued by the analysis of Theo Angelopoulos&rsquo; movie Eternity and a day, inspired by the Eighteenth-century Greek poet Dionysios Solomos, in which the Greek director considers the language as a possibility to recover a lost identity. The bilingualism characterizing Solomos&rsquo; poetry, switching from Italian to modern Greek, should be considered in the light of the peculiar history of the Ionian Islands, which had been under Venetian Authority &nbsp;for centuries. Having explored the linguistic topic in the Ionian Islands and in Greece, the author&rsquo;s attention is then focused on the bilingualism of the Greek poet, with samples in Italian and modern Greek idioms, and frequent references to essays and writings exploiting the linguistic issue. Angelopoulos&rsquo; movie will be then illustrated, emphasizing its main themes: time and words. Focusing on this last aspect, the sections of the movie which draw direct or indirect inspiration from Solomos&rsquo; literary and poetic production will be analyzed, basing on the original screenplay in modern Greek. The connection between identity and language has been developed according also to Heidegger&rsquo;s philosophy. Finally it will be demonstrated that the importance Angelopoulos assigns &nbsp;to Solomos&rsquo; figure in order to explain the meaning of linguistic identity&nbsp; is not so appropriate. Infact the Greek director doesn&rsquo;t seem to keep in adequate consideration the significance of bilingualism in Solomos&rsquo; poetry.</p

    Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features

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    The impact of common and rare variants in COVID-19 host genetics has been widely studied. In particular, in Fallerini et al. (Human genetics, 2022, 141, 147–173), common and rare variants were used to define an interpretable machine learning model for predicting COVID-19 severity. First, variants were converted into sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. After that, the Boolean features, selected by these logistic models, were combined into an Integrated PolyGenic Score (IPGS), which offers a very simple description of the contribution of host genetics in COVID-19 severity.. IPGS leads to an accuracy of 55%–60% on different cohorts, and, after a logistic regression with both IPGS and age as inputs, it leads to an accuracy of 75%. The goal of this paper is to improve the previous results, using not only the most informative Boolean features with respect to the genetic bases of severity but also the information on host organs involved in the disease. In this study, we generalize the IPGS adding a statistical weight for each organ, through the transformation of Boolean features into “Boolean quantum features,” inspired by quantum mechanics. The organ coefficients were set via the application of the genetic algorithm PyGAD, and, after that, we defined two new integrated polygenic scores (IPGSph1 and IPGSph2). By applying a logistic regression with both IPGS, (IPGSph2 (or indifferently IPGSph1) and age as inputs, we reached an accuracy of 84%–86%, thus improving the results previously shown in Fallerini et al. (Human genetics, 2022, 141, 147–173) by a factor of 10%

    Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features

    No full text
    The impact of common and rare variants in COVID-19 host genetics has been widely studied. In particular, in Fallerini et al. (Human genetics, 2022, 141, 147–173), common and rare variants were used to define an interpretable machine learning model for predicting COVID-19 severity. First, variants were converted into sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. After that, the Boolean features, selected by these logistic models, were combined into an Integrated PolyGenic Score (IPGS), which offers a very simple description of the contribution of host genetics in COVID-19 severity. IPGS leads to an accuracy of 55%–60% on different cohorts, and, after a logistic regression with both IPGS and age as inputs, it leads to an accuracy of 75%. The goal of this paper is to improve the previous results, using not only the most informative Boolean features with respect to the genetic bases of severity but also the information on host organs involved in the disease. In this study, we generalize the IPGS adding a statistical weight for each organ, through the transformation of Boolean features into “Boolean quantum features,” inspired by quantum mechanics. The organ coefficients were set via the application of the genetic algorithm PyGAD, and, after that, we defined two new integrated polygenic scores ((Formula presented.) and (Formula presented.)). By applying a logistic regression with both IPGS, ((Formula presented.) (or indifferently (Formula presented.)) and age as inputs, we reached an accuracy of 84%–86%, thus improving the results previously shown in Fallerini et al. (Human genetics, 2022, 141, 147–173) by a factor of 10%

    New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

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    Alport syndrome (AS) is an inherited genetic disorder characterized by range of alterations from glomerular basement membrane abnormalities up to end-stage renal disease. Pathogenic variants in the collagen α3, α4, and α5 encoding genes are causative both of the autosomal dominant and of the X-linked forms of AS. Podocytes are the only renal cells that are able to produce the COL(IV)a3-a4a5 heterotrimer. We have previously demonstrated how it is possible to isolate podocyte-lineage cells from urine of patients, providing an easily accessible cellular model closer to the podocytes’ physiological conditions. Taking advantage of disease-relevant cell lines, we employed a two-plasmid approach in order to achieve a beneficial and stable variant-specific correction using CRISPR/Cas9 genome editing. One plasmid carries a Donor DNA and a reporter system mCherry/GFP to track the activity of Cas9 in cells. The other plasmid carries a self-cleaving SpCas9 and the variant-specific sgRNA. We have analyzed two stable podocyte-lineage cell lines, harboring a variant in the X-linked COL4A5 (p.(Gly624Asp)) and in the autosomal COL4A3 gene (p.(Gly856Glu)). We have achieved reversion of variants greater than 40% with undesired insertions/deletions lower than 15%. Overall, we have demonstrated a new gene therapy approach directly on patients’ cells, key players of Alport pathogenesis, and we have reverted COL4 causative variants towards the wild type state. These results, in combination with preclinical models, could open new frontiers in the management and the treatment of the disorder. © 2019, The Author(s)

    CYP19A1 mediates severe SARS-CoV-2 disease outcome in males

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    Stanelle-Bertram S, Beck S, Mounogou NK, et al. CYP19A1 mediates severe SARS-CoV-2 disease outcome in males. Cell Reports Medicine . 2023;4(9): 101152.Male sex represents one of the major risk factors for severe COVID-19 outcome. However, underlying mechanisms that mediate sex-dependent disease outcome are as yet unknown. Here, we identify the CYP19A1 gene encoding for the testosterone-to-estradiol metabolizing enzyme CYP19A1 (also known as aromatase) as a host factor that contributes to worsened disease outcome in SARS-CoV-2-infected males. We analyzed exome sequencing data obtained from a human COVID-19 cohort (n= 2,866) using a machine-learning approach and identify a CYP19A1-activity-increasing mutation to be associated with the development of severe disease in men but not women. We further analyzed human autopsy-derived lungs (n= 86) and detect increased pulmonary CYP19A1 expression at the time point of death in men compared with women. In the golden hamster model, we show that SARS-CoV-2 infection causes increased CYP19A1 expression in the lung that is associated with dysregulated plasma sex hormone levels and reduced long-term pulmonary function in males but not females. Treatment of SARS-CoV-2-infected hamsters with a clinically approved CYP19A1 inhibitor (letrozole) improves impaired lung function and supports recovery of imbalanced sex hormones specifically in males. Our study identifies CYP19A1 as a contributor to sex-specific SARS-CoV-2 disease outcome in males. Furthermore, inhibition of CYP19A1 by the clinically approved drug letrozole may furnish a new therapeutic strategy for individualized patient management and treatment. Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved
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