1,721,136 research outputs found
Final farewell to Claudio Rapezzi: observation, deduction and knowledge in medicine
Full text linkMany colleagues have known him as a brilliant mind and prominent member of the cardiological and amyloidosis community, many others as a trustful and distinguished partner in research with flashes of extraordinary intelligence and an exceptional ability for lateral thinking, and many more as a close friend with extremely sharp irony and culture. However, Professor Claudio Rapezzi was primarily a mentor with the unique ability to ignite the minds and the hearts of young researchers and colleagues with his scientific passion
La malattia come punizione
No full textNell'articolo si indaga sull'assenza dell'idea di contagio e trasmissione delle malattie fra alcune popolazioni del Caucaso e delle montagne del Tajikistan a fine Ottocento. La malattia era vista come una punizione inviata per un mancanza o una trasgressione dell'ordine garantito dalla tradizion
Dalla genetica e genomica delle popolazioni umane alla medicina evolutiva
No full textFin dall’inizio degli studi di biologia umana volti ad individuare le relazioni fra i geni e i tratti fenotipici individuali che si manifestano nel corso della vita, un posto rilevante è stato riservato alle ricerche tese a comprendere il ruolo della diversità genetica nella eziopatogenesi delle malattie, attraverso analisi di linkage e, più recentemente, studi di associazione su tutto il genom
The uncertainty of causes of sudden cardiac death: the promising role of the molecular autopsy and family screening to weight scientific evidence
No full textIn sudden cardiac deaths (SCD), the identification of the cause(s) of death at autopsy may be challenging, especially in some conditions where the border between physiological and pathological changes is not defined. This paper describes a case of SCD in an 18-month-old child with two abnormalities of uncertain significance. The multi-disciplinary approach included PMCT, autopsy, histological, toxicological and genetic analysis. Parental screening and targeted genetic testing were performed. Two potentially pathogenic abnormalities were detected: a high take-off origin of the left coronary artery from the tubular aorta and a heterozygous variant, harbored by the mother and the grandfather, within exon 1 of the KCNQ1 (potassium voltage-gated channel subfamily Q member 1) gene (p.Ala46Thr). The clinical examination, basal ECG and Holter ECG were normal, except for a single borderline QTc interval measurement in the mother. The high coronary origin is classified by the International Guidelines for autopsy investigation in SCD as an “uncertain” cause of death and the genetic variant is classified as of “uncertain” or “likely pathogenic” significance in Clinvar and Varsome, respectively. The possibility to perform an extended family screening revealed the lack of a solid genotype-phenotype correlation, and the KCNQ1 variant cannot with any certainty be regarded as disease-causing. When autopsy findings fall into the grey zone between physiological and pathological changes, as well as post-mortem genetic analysis, the standardized clinical testing of families should be emphasized in order to understand the role of gene variants, and to produce evidences for the realization of personalized medicine
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
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