1,721,039 research outputs found
Vitiligo susceptibility and catalase gene (CAT) polymorphisms in sicilian population
No full textCatalase gene (CAT) polymorphisms were analyzed as responsible for the deficiency of catalase enzyme activity and concomitant accumulation of excessive hydrogen peroxide in Vitiligo patients. Catalase is a well known oxidative stress regulator that could play an important role in the pathogenesis of Vitiligo. This study was conducted to evaluate three CAT gene polymorphisms (-89A/T, 389C/T, 419C/T) and their association with Vitiligo susceptibility in Sicilian population
Una nuova mutazione nell’esone 4 del gene del FVIII causa un quadro di emofilia moderata.
No full textINTRODUZIONE. L’emofilia su scala mondiale rappresenta la più comune diatesi emorragica X linked.
In Sicilia circa 140 famiglie sono soggette a tale condizione.
Clinicamente l’emofilia è distinta in forma severa, moderata e lieve in base all’attività del fattore VIII
(F8). La forma grave dell’emofilia A è caratterizzata dalla assenza di fattore VIII plasmatico e
dall’attività del fattore VIII plasmatico < 1% ed è causata per il 50 % dalla inversione dell’introne 22
del gene del fattore VIII e per il 5% dalla inversione dell’introne 1. La restante parte di alterazioni
genetiche riguarda numerose mutazioni puntiformi tipo missense, non-sense e frameshift. La forma
moderata è dovuta più frequentemente ad una serie di mutazioni puntiformi responsabili della genesi di
un fenotipo biologicamente alterato e di scarsa attività plasmatica.
Il gene del F8, localizzato nel cromosoma X (Xq28) consiste in 26 esoni e codifica per un precursore di
2351 aminoacidi. Per il gene del F8 sono state descritte in letteratura più di 500 mutazioni puntiformi
che riguardano sia la regione codificante sia la regione promoter. Nel corso del nostro studio sui
pazienti emofilici abbiamo identificato una nuova mutazione in un soggetto maschio di origine
siciliana affetto da emofilia moderata (attività del fattore VIII plasmatica è pari al 7%).
MATERIALI E METODI. Il DNA del paziente è stato estratto con la metodica del Salting-out.
L’intero gene del fattore VIII e la regione promoter sono stati amplificati compiendo 23 reazioni di
PCR. I prodotti di PCR sono stati utilizzati come templati per la reazione di sequenza. I 26 esoni, la
regione promoter e le regioni di giunzione introne-esone sono stati sequenziati mediante la metodica di
Sanger utilizzando Kit di sequenza Big-Dye Terminator Cicle Sequencing TM . L’analisi della
mutazione è stata compiuta comparando la sequenza del paziente con quella wild type ottenuta dal sito
web http://www.ncbi.nlm.nih.gov/entrez/, (N° di accesso: NG 005114 GI: 67083285). Tale
comparazione è stata realizzata mediante il programma ABI SeqScape TM.
RISULTATI E DISCUSSIONE. Lo studio della mutazione ha evidenziato una nuova transizione T!C
nel codone 173 (esone 4). In posizione aminoacidica 173, tale mutazione missense crea uno cambio del
codone ATT, codificante per una Isoleucina, in ACT, codificante per una Treonina. La I173T fino ad
ora mai descritta nel database internazionale HGMD (the Human Gene Mutation Database Cardiff)
genera un fenotipo Fattore VIII aberrante che ne riduce sensibilmente l’attività catalitica
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe 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
Full text link“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
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe 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
Full text linkWe 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
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
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