1,721,443 research outputs found
TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss
Full text linkNose-ear-throat manifestations of immunodeficiency disorders represent a diagnostic challenge for clinicians as these diseases often constitute the initial sign for connective disorders or autoimmune disease. The history of chronic rhinosinusitis and conductive hearing loss is often non specific. Therefore attention to an HLA class I deficiency must be considered if the disease has not been diagnosed on routine examination. One of the syndromes is due to a defective TAP complex, the peptide transporter complex associated with antigen presentation. Herein, we report two sisters with TAP-deficiency. The treatment of choice for TAP-deficient patients is conservative
From research to regulated: challenges in transferring methods
No full textThe current decade has seen an evolution in biomarker research, with a breakthrough from traditional single analyte studies to simultaneous multiple analyte technologies, aided by the progressive development of research tools and the discovery of many novel biomarkers. It is foreseeable that the application of such technologies will have an integral role in clinical studies for establishing biomarker profiles of disease status and prognosis. However, the transfer of such complex procedures to a regulated environment presents many obstacles. Here, we discuss some of these applied technologies and the validation approaches we have taken as an academic unit to prove their suitability and appropriateness for clinical application. We discuss the advantages and limitations for such end point assays in early Phase clinical trial
OP35 - Goddard, George; Griffith, Beverley; Procope, Don; Liverpool, Hollis; Williams, Anthony
No full text5 audio cassettesThis resource is available for research. It is the property of the West Indiana and Special Collections Division, The Alma Jordan Library, The University of the West Indies, St. Augustine Campus.George Goddard was involved with the steelband since 1941. Beverley Griffith was a former co-arranger of Starland steelband and WITCO Desperadoes. Don Procope served as Public Relations Officer for the Pan Am North Stars Steelband from 1961. Hollis Liverpool, teacher, calypsonians and historian, has been conducting research on Carnival and the related art forms. Anthony Williams, pan tuner, revolutionized steelband, steelband music and Carnival with his innovations in the steelband. These interviews were conducted as part of the research for a Caribbean Study Project on "Steelband: The innovations of Anthony Williams" in the Faculty of Arts and if General Studies, St Augustine, submitted by Robert Saldena in April 1984
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
Exploring the RNA gap for improving diagnostic yield in primary immunodeficiencies
No full textChallenges in diagnosing Primary Immunodeficiency are numerous and diverse, with current whole exome and whole genome sequencing approaches only able to reach a molecular diagnosis in 25-60% of cases. We assess these problems and discuss how RNA focused analysis has expanded and improved in recent years, and may now give be utilised to gain an unparalleled insight into cellular immunology. We review how investigation into RNA biology can give information regarding the differential expression, mono-allelic expression, and alternative splicing – which have important roles in immune regulation and function. We show how this information can inform bioinformatic analysis pipelines and aid in the variant filtering process, expediting the identification of causal variants – especially those affecting splicing, and enhance overall diagnostic ability. We also demonstrate the challenges, which remain in the design of this type of investigation, regarding technological limitation and biological considerations and suggest potential directions for the clinical applications
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
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