1,721,214 research outputs found
Screening of functional and positional candidate genes in families with common variable immunodeficiency
No full textBackground: Common variable immunodeficiency (CVID) comprises a heterogeneous group of primary antibody deficiencies with complex clinical and immunological phenotypes. The recent discovery that some CVID patients show monogenic defects in the genes encoding ICOS, TACI or CD19 prompted us to investigate several functional candidate genes in individuals with CVID.Results: The exonic, protein coding regions of the genes encoding: APRIL, BCMA, IL10, IL10R alpha, IL10R beta, IL21, IL21R, and CCL18, were analyzed primarily in familial CVID cases, who showed evidence of genetic linkage to the respective candidate gene loci and CVID families with a recessive pattern of inheritance. Two novel SNPs were identified in exon 5 and exon 8 of the IL21R gene, which segregated with the disease phenotype in one CVID family. Eleven additional SNPs in the genes encoding BCMA, APRIL, IL10, IL10Ra, IL21 and IL21R were observed at similar frequencies as in healthy donors.Conclusion: We were unable to identify obvious disease causing mutations in the protein coding regions of the analyzed genes in the studied cohort
Adult-onset primary immunodeficiencies
No full textDifferent individuals with the same kind of primary immunodeficiency may start having symptoms from early childhood on, or alternatively much later in adult life, or never. The differences in phenotype can only partly be deduced from genotype-analysis or—in case of female patients with X-linked diseases—from age-related skewing of lyonisation. The role of compensatory immune mechanisms is less clear. The microbial spectrum of infections is usually the same for both adult and infantile forms of a special primary immunodeficiency syndrome. Yet, many of the adult forms are associated with non-infectious complications, such as granuloma formation, autoimmunity or tumors. Besides standard antibiotic treatment and IgG replacement therapy, there are now different cytokine- or enzyme-replacement regimens available for some of the primary immunodeficiencies. However, exact diagnostic classification of the immunodeficiency should be obtained before such treatment modalities are used. Adult primary immunodeficiency syndromes therefore represent a challenge to both clinicians and molecular biologists.Primäre Defekte des Immunsystems können sich bei verschiedenen Individuen entweder in früher Kindheit, spät im Erwachsenenalter oder auch nie manifestieren. Die verschiedenen Phänotypen können teilweise durch die Genotypanalyse oder—bei weiblichen Patienten und X-chromosomalem Erbgang—durch die altersabhängige Verschiebung der Lyonisation erklärt werden. Eine wichtige Rolle spielen wahrscheinlich auch kompensatorische Immunmechanismen. Das Erregerspektrum eines adulten primären Immundefektsyndroms stimmt im Wesentlichen mit demjenigen der juvenilen Form überein. Nicht selten stehen bei den adulten Formen klinisch nicht die Infektkomplikationen, sondern assoziierte Phänomene wie Granulombildung, Autoimmunität oder Neoplasie im Vordergrund. Neben einer adäquaten, erregerspezifischen Antibiose stehen heute für einige primäre Immundefizienzen spezifische Substitutionstherapien in Form von humanem Immunglobulin G Präparationen, rekombinanten Zytokinen oder Enzymen zur Verfügung. Der Einsatz dieser Therapieformen bedingt allerdings eine genaue diagnostische Klassifikation des immunologischen Defekts. Adulte primäre Immundefektsyndrome stellen daher eine Herausforderung für den Kliniker und für den Molekularbiologen dar.<br/
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
The European Society for Immunodeficiencies (ESID) registry 2014
Full text linkEuropean Society for Immunodeficiencies Registr
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
Analysis of families with common variable immunodeficiency (CVID)and IgA deficiency suggests linkage of CVID to chromosome 16q.
No full textDispelling 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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