323,179 research outputs found
Imaging phenotypes and genotypes in schizophrenia
No full textSchizophrenia is associated with subtle structural and functional brain abnormalities. Both recent and classical data suggest that it is a heterogeneous disorder that is clearly heritable. The cause and course of schizophrenia are poorly understood, and classical categories of clinical symptoms have not been particularly useful in identifying its pathophysiology or predicting its treatment. The possible genetic risk factors for schizophrenia are numerous; however, the connection between the genotype and the time-course, or the multifaceted symptoms of the disease, has yet to be established. Brain imaging methods that study the structure or function of the cortical and subcortical regions have also identified distinct patterns that distinguish schizophrenics from controls, and that may identify meaningful subtypes of schizophrenia. The predictive relationship between these imaging phenotypes and disease characteristics such as treatment response is only beginning to be revealed. The emergence of the field of imaging genetics, combining genetic, and neuroimaging data, holds much promise for the deeper understanding and improved treatment of diseases such as schizophrenia. In this article we review some of the key findings in imaging phenotyping and genotyping of schizophrenia, and the initial endeavors at their combination into more meaningful and predictive patterns, or endophenotypes identifying the relationships among clinical symptoms, course, genes, and the underlying pathophysiology
Imaging genetics approaches to identify mechanisms in severe mental illness
No full textComment on:
Hippocampal and frontolimbic function as intermediate phenotype for psychosis: evidence from healthy relatives and a common risk variant in CACNA1C. Biol Psychiatry. 2014 Sep 15;76(6):466-75. doi: 10.1016/j.biopsych.2013.11.025. Epub 2013 Dec 8
Diffusive author(s), cohesive author: Analysis of S/N (1994)
No full textThis 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
No full textThe 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
Transposable elements and psychiatric disorders
No full textTransposable Elements (TEs) or transposons are low-complexity elements (e.g., LINEs, SINEs, SVAs, and HERVs) that make up to two-thirds of the human genome. There is mounting evidence that TEs play an essential role in genomic architecture and regulation related to both normal function and disease states. Recently, the identification of active TEs in several different human brain regions suggests that TEs play a role in normal brain development and adult physiology and quite possibly in psychiatric disorders. TEs have been implicated in hemophilia, neurofibromatosis, and cancer. With the advent of next-generation whole-genome sequencing approaches, our understanding of the relationship between TEs and psychiatric disorders will greatly improve. We will review the biology of TEs and early evidence for TE involvement in psychiatric disorders
Dopamine D2 receptor gene variants and quantitative measures of positive and negative symptom response following clozapine treatment
No full textDopamine D2 receptor blockade is the major basis for the antipsychotic action of typical antipsychotic drugs (AP) and a necessary but not sufficient basis for the antipsychotic action of atypical APs such as clozapine and other multireceptor antagonists which rely, in part, upon 5-HT2A antagonism. Genetic factors affecting the density and/or function of D2 receptors may therefore affect AP response.
Objectives This exploratory study investigates the effect of 12 single nucleotide polymorphisms (SNPs) spanning the entire dopamine D2 gene on clozapine response in two distinct schizophrenic populations (Caucasian and Africanâ American) refractory or intolerant to conventional APs.
Methods This study included 183 Caucasian and 49 Africanâ American DSM-III-R or DSM-IV schizophrenics. Genotyping was determined by 5prime-exonuclease fluorescence assays. Within each population genotype, allele, allele +/â , and haplotype frequencies were compared between responders and non-responders by X2 tests. Linkage disequilibrium analysis was also performed.
Results In the Caucasian sample, no significant associations were found for individual SNP tests; however, two haplotypes were identified as having significant protective effects on treatment outcome. In the Africanâ American sample, individual SNP tests identified the Taq1A, Taq1B, and rs1125394 markers as being predictive of clozapine response. Haplotype analyses identified four protective haplotypes containing these SNPs. In addition, no association between the â 141C Ins/Del site and clozapine response was found in either population.
Conclusions Interindividual variability in clozapine response among treatment refractory/intolerant patients is still not fully understood and likely involves multiple factors. This exploratory analysis suggests that the D2 receptor gene may be one such factor
Dispelling the Myths Behind First-author Citation Counts
No full textWe 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's address:
No full textCan 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's ideas through watching an audiovisual TV interview (i.e., visible author format) and about another scholar'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'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
No full textAbstract
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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