1,720,964 research outputs found

    Analisi di polimorfismi del DNA genomico e mitocondriale in tessuti fissati: confronto fra formalina e Complucad®

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    Sia in ambito di indagini di paternità che in ambito penale sempre più frequentemente il genetista forense si trova a effettuare analisi di campioni provenienti da tessuti conservati e fissati per esami istologici. Scopo del lavoro era di valutare in modo più ampio rispetto ad uno studio già condotto nel nostro laboratorio se il Complucad® (Complucad International S.A., Zaragoza, Spagna), fissativo a base alcoolica, possa esser più adatto per l’analisi genetica rispetto alla formalina. A tale fine sono stati prelevati in sede di autopsia 25 mg di tessuto cerebrale, polmonare, epatico, cardiaco e renale da 5 individui. Una parte è stata impiegata per definire il profilo genetico e il mitotipo del donatore, una parte è stata conservata in doppio con le due metodiche per 3, 7, 30 e 300 giorni. Il DNA è stato estratto con NucleoSpin® Tissue (Macherey-Nagel, Düren, Germany) e quantificato con QuantiBlot® Human DNA Quantitation Kit (Applied Biosystem, Foster City, CA, USA). Di ciascun campione è stata eseguita una PCR quadruplex dei loci LPL, F13B, FESFPS, F13A01 (Promega, Madison, WI, USA). Per i soli campioni conservati per 300 giorni sono stati analizzati ulteriori 15 loci STR ed il locus dell’Amelogenina impiegando il kit AmpFlSTR® Identifiler® (Applied Biosystem); gli stessi estratti sono stati inoltre sottoposti a sequenziamento delle regioni HV1 e HV2 del mtDNA. I risultati ottenuti dimostrano come la concentrazione di DNA sia pressoché simile per le due metodiche, ma mediante corsa elettroforetica su gel di agarosio si è osservata una cospicua degradazione del DNA dei tessuti conservati in formalina per più di 3 giorni. Unicamente per i campioni fissati con Complucad® è stato ottenuto un buon profilo STR ad ogni tempo analizzato, mentre nessun profilo genetico utilizzabile per un confronto si è avuto dai campioni fissati in formalina per più di 7 giorni. Viceversa il sequenziamento del mtDNA è risultato utile per un confronto in entrambi i casi

    An Italian Jean Jacques Rousseau: A complex kinship case

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    We report the case of four women and a man, all born in an Italian village during and immediately after WWII, that recently contacted our laboratory in order to perform kinship analysis. According to their claim, the propositi were the illegitimate offspring of a country gentleman and a peasant woman, given in adoption immediately after birth. A story that curiously reminded us of Jean Jacques Rousseau, Thérèse Levasseur and their five children. Problems connected with DNA analysis in cases where all stated relationship are questioned, and a wide range of different pedigrees could be used as hypotheses in LR calculations are discussed

    Going Beyond Counting First Authors in Author Co-citation Analysis

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    The present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed

    Variations on the Author

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    “Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship

    Privacy and ethical challenges of the Amelogenin sex test in forensic paternity/kinship analysis: Insights from a 13-year case history

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    The Amelogenin sex test included in forensic DNA typing kits has the potential to identify congenital conditions such as differences/disorders of sex development (DSD). It can also reveal mismatches between genotypic sex and gender marker in identity documents of transgender persons who obtained legal gender recognition. In a 13-year case history of paternity/kinship tests, involving n = 962 females and n = 1001 males, two mismatches between Amelogenin sex test (male) and gender marker (female), and three cases of chromosomal DSD (Klinefelter syndrome) were observed. The concrete risk of observing Amelogenin anomalies, their potential causes, and the context in which they occur (forensic, i.e. non-medical) mean that laboratory operators are called to strike a complex balance between privacy interests and individual health rights when providing preliminary information and reporting Amelogenin incidental findings. This case history argues for the need of a more responsible approach towards the Amelogenin sex test in the forensic community

    Appropriate Similarity Measures for Author Cocitation Analysis

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    We provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis

    Dispelling the Myths Behind First-author Citation Counts

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    We conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more sophisticated methods

    Author Index

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