1,721,414 research outputs found
Genetic architecture of coronary artery disease in the genome-wide era: implications for the emerging "golden dozen" loci.
No full textClinicians are well aware of family history as a risk factor for coronary artery disease (CAD) and myocardial infarction (MI). The underlying genetic architecture of CAD/MI is extremely complex and still poorly understood. Overall, the genetic heritability of CAD/MI is estimated to be near 40 to 60\%. This proportion includes mainly genes that regulate known risk factors (e.g., lipid metabolism) but also genes involved in as yet unknown metabolic pathways. In the last 2 years, the systematic application of genome-wide association studies in the setting of large collaborative consortia including thousands of patients and controls has led to the identification of several new loci associated with CAD/MI. Here we review current knowledge on the emerging "top" 12 loci, that is, those showing the most consistent associations with clinical phenotypes. Although these genetic variants have little or no current predictive value of at the level of individual patients, they have the potential to disclose novel biological mechanisms involved in the pathophysiology of CAD/MI
Spontaneous splenic rupture in a patient with factor XIII deficiency and a novel mutation
No full textWe report a novel mutation in factor XIIIA gene that caused severe congenital factor XIII deficiency in a 6 year and 8 month old male. The mutation is a GA deletion in the core domain leading to a premature stop at codon 502. The child had severe deficiency with two episodes of intracerebral hemorrhage. He also developed spontaneous splenic rupture, an unusual complication of this disorder. © 2006 Wiley-Liss, Inc.Anwar R, 1999, BRIT J HAEMATOL, V107, P468, DOI 10.1046-j.1365-2141.1999.01648.x; Birben E, 2003, EUR J HAEMATOL, V71, P39, DOI 10.1034-j.1600-0609.2003.00088.x; Birben E, 2002, BRIT J HAEMATOL, V118, P278, DOI 10.1046-j.1365-2141.2002.03571.x; Bregman R, 1976, Nebr Med J, V61, P80; Duan BH, 2003, INT J HEMATOL, V78, P251, DOI 10.1007-BF02983803; EHMANN WC, 1994, AM J MED, V96, P92, DOI 10.1016-0002-9343(94)90123-6; GALLET S, 1985, PEDIATRIE, V40, P385; ICHINOSE A, 1986, BIOCHEMISTRY-US, V25, P6900, DOI 10.1021-bi00370a025; PEYVANDI F, 1999, HEAMOPHILIA, V8, P308; Vysokovsky A, 2004, J THROMB HAEMOST, V2, P1790, DOI 10.1111-j.1538-7836.2004.00908.x108
Drop of residual plasmatic activity of ADAMTS13 to undetectable levels during acute disease in a patient with adult-onset congenital thrombotic thrombocytopenic purpura.
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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
Erratum to Fischer et al. "Inhibitor development in nonsevere haemophilia across Europe" (Thromb Haemost 2015; 114: 670-675).
No full text[This corrects the article DOI: 10.1160/TH14-12-1044.]. In the Original Article by Fischer et al. "Inhibitor development in non- severe haemophilia across Europe" (Thromb Haemost 2015; 114: 670-675), the author R. Hollingsworth was omitted by mistake. Please find the corrected list of authors here: Fischer K, Iorio A, Lassila R, Peyvandi F, Calizzani G, Gatt A, Lambert T, Windyga J, Gilman EA, Hollingsworth R, Makris M, on behalf of the EUHASS participants
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
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