323,779 research outputs found

    Genetic factors predisposing to myasthenia gravis and related autoimmune disorders

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    Myasthenia gravis (MG) is an autoimmune disorder in which patients experience weakness of the skeletal or ocular-bulbar muscles. In most patients, anti-AChR antibodies affect the signal across the neuromuscular junction necessary for muscular contraction. It is a complex disorder, wherein multiple genes plus environmental factors are likely necessary for disease manifestation. IgA deficiency (IgAD) is defined as serum IgA levels less than 0.07 g/l with normal levels of IgG and IgM. Due to the role of IgA in mucosal barriers, some patients experience recurrent infections, although many individuals are asymptomatic. Both MG and IgAD patients experience concomitant autoimmunity more often than in the background population, and IgAD may caused by autoimmune mechanisms.Investigations into genetic associations with MG have targeted genes implicated previously in autoimmune disorders. The PTPN22 rs2476601 polymorphism was genotyped in 409 MG patients and 1557 controls, and was associated with the entire cohort (p=2.7x10-4, OR=1.52), as well as with hyperplasia (p=1.4x10-4, OR=1.87), anti-AChR positivity (p=4.9x10-4, OR=1.52), and patients exhibiting both (p=6.6x10-5, OR=1.96). Furthermore, after antigen activation, a significant increase in IL-2 producing cells (p=0.002) and IgG secreting cells (p=0.004) in patients carrying the T allele was observed, indicating that the allele may be a gain-of-function variant in MG.Genotyping of 446 MG patients and 1866 controls for the CIITA rs3087456 was conducted without a statistically significant difference observed between MG patients and controls for either allele frequencies (p=0.092) or genotypes (p=0.251). The control material differed significantly from the original study reporting association of the SNP with several disorders (0.266 and 0.216, respectively, pExamining overlapping genes in autoimmunity has thus proved to be a valuable method of identifying patterns of predisposition. Using the summary associations to determine complex disease predisposition has proven to be difficult. A method was created to use complex disease MZ and DZ twins concordance to estimate the frequency of the predisposition (1:5240 in MG) and number of overlapping genetic regions contributing to disease (2-4 in MG). This information has made it possible to formulate a model of complex disease which is flexible to the number of underlying genetic subgroups of disease, and future genetic information can be used to predict the probability of disease development.List of scientific papersI. Lefvert AK, Zhao Y, Ramanujam R, Yu S, Pirskanen R and Hammarström L. PTPN22 R620W promotes production of anti-AChR autoantibodies and IL-2 in myasthenia gravis. J Neuroimmunol. 2008 Jul; 197(2); 110-3. https://doi.org/10.1016/j.jneuroim.2008.04.004 II. Ramanujam R, Zhao Y, Pirskanen R and Hammarström L. Lack of association of the CIITA -168A/G promoter SNP with myasthenia gravis and its role in autoimmunity. BMC Med Genet. 2010 Oct 13;11:147. https://doi.org/10.1186/1471-2350-11-147 III. Ramanujam R, Pirskanen R and Hammarström L. The CD45 77C/G allele is not associated with myasthenia gravis – a reassessment of the potential role of CD45 in autoimmunity. BMC Research Notes. 2010 Nov 10;3(1):292. https://doi.org/10.1186/1756-0500-3-292 IV. Mohammadi J, Ramanujam R, Jarefors S, Rezaei N, Aghamohammadi A, Gregersen PK and Hammarström L. IgA deficiency and the MHC: assessment of relative risk and microheterogeneity within the HLA A1 B8, DR3 (8.1) haplotype. J Clin Immunol. 2010 Jan;30(1):138-43. https://doi.org/10.1007/s10875-009-9336-2 V. Ramanujam R, Piehl F, Pirskanen R, Gregersen PK and Hammarström L. Concomitant autoimmunity in myasthenia gravis – lack of association with IgA deficiency. [Manuscript]VI. Ramanujam R, Pirskanen R, Ramanujam S and Hammarström L. Utilizing twins concordance rates to infer the predisposition to myasthenia gravis. [Accepted] https://pubmed.ncbi.nlm.nih.gov/21425894 </p

    Diffusive author(s), cohesive author: Analysis of S/N (1994)

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    This study indicates the ways in which various aspects of the author(s) are brought forth in Dumb type’s performance art, the S/N production. Previous research has suggested a non-hierarchical organization of Dumb type and the absence of a “privileged author” in Dumb type’s collaborative work, S/N. However, the results that I have investigated from member’s interviews on the creative process of S/N along with my analysis of the recorded images of S/N, indicate a different aspect of the author(s). First, S/N was created through, so to speak, the collective ideas of the members of Dumb type. Further, S/N has at least nine quotations from previous performances, installations, and printed writings, besides the work-in-progress technique. Explicating one of the “author functions” as given by Michel Foucault, each text has plural subjects of the author. However, it has been revealed from members’ interviews that Teiji Furuhashi had a decision-making role in selecting the members’ ideas within the performance. Since then, S/N has had plural subjects of creation; however, Furuhashi is one of the subjects of creation along with the “privileged author.” S/N has plural authors (diffusive authors) yet at the same time, it has a “privileged author,” Teiji Furuhashi (cohesive author)

    Going Beyond Counting First Authors in Author Co-citation Analysis

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    The 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

    Dispelling the Myths Behind First-author Citation Counts

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    We 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

    Author&apos;s address:

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    Can archives of audiovisual TV interviews be used to make authors more visible to students, and thereby reduce the learning gap between native and non-native language speakers in college classes? We examined students in a college course who learned about one scholar&apos;s ideas through watching an audiovisual TV interview (i.e., visible author format) and about another scholar&apos;s ideas through reading a formal text description (i.e., invisible author format). For the invisible author, native language speakers scored significantly higher than the non-native language speakers on a corresponding exam question (i.e., a cognitive measure), generated more words on the exam question (i.e., a motivational measure), and mentioned the author&apos;s name more often in answering the exam question (i.e., an affective measure). For the visible author, the groups did not differ on any of these measures. These findings provide evidence for the idea that making the author visible through audiovisual TV interviews can eliminate the learning gap between native and non-native language speakers. 3 Universities around the world serve students who are non-native speakers of th

    The vanishing author in computer-generated works: a critical analysis of recent Australian case law

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    Abstract The use of software is ubiquitous in the creation of many copyright works, yet the requirement in copyright law that every work have a human author who engages in independent intellectual effort means that its use may prevent copyright subsistence. Several recent Australian cases have refocused attention on authorship as an essential criterion of copyright subsistence, and these cases suggest that much computer-produced output may be authorless and thus lack copyright protection. This article, the first in a two-part series, analyses how each case deals with the question of authorship of computer-produced works and why the use of software diminishes copyright protection for a significant number of computer-generated works. The article critiques the application of conventional notions of human authorship developed in the pre-computer age to modern productions and suggests alternative approaches to authorship that satisfy both the major objectives of copyright policy and the need to adapt to the computer age. The article argues that, without a broader judicial approach to authorship of computer-generated works, Parliament must remedy the lacuna in protection for these ‘authorless’ works. Possible solutions for reform are suggested. In a forthcoming article, the author comprehensively examines those reform proposals
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