1,721,046 research outputs found
Unverricht-Lundborg disease
No full textWe first review the clinical presentation and current therapeutic approaches available for treating Unverricht-Lundborg disease (ULD), a progressive myoclonus epilepsy. Next, we describe the identification of disease causing mutations in the gene encoding cystatin B (CSTB). A Cstb-deficient mouse model, which recapitulates the key features of ULD including myoclonic seizures, ataxia, and neuronal loss, was generated to shed light on the mechanisms contributing to disease pathophysiology. Studies with this model have elucidated the diverse biological roles for Cstb from functioning as a protease inhibitor, to regulating glial activation, oxidative stress, serotonergic neurotransmission, and hyperexcitability. These findings set the stage for future studies that may open avenues to improved therapeutic approaches
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
Limb-Girdle Muscular Dystrophy (LGMD): Diagnosis in An Arab Country
No full textLimb-girdle Muscular Dystrophies (LGMD) are heterogeneous inherited muscle disorders
characterized by progressive weakness and muscle wasting. They show a wide spectrum of
clinical courses, varying from very mild to severe. It is a genetically heterogeneous group of
diseases with dominant (LGMD1) and recessive (LGMD2) inheritance. To date, at least 31 loci
have been identified. The different subtypes can be distinguished by immunohistochemical
analysis in a muscle biopsy specimen in order to guide and abbreviate the molecular genetic
investigations. There is a geographical difference in their incidence.
LGMD2 are prevalent in Arabic countries because of the high rates of consanguinity. Many
genes were identified in these countries, especially in Maghreb. LGMD type 2C, or δ-
sarcoglycanopathy, is the most frequent in North African populations as a result of the founder
c.525delT mutation in the Sarcoglycan gene. It was firstly described in Tunisia, in 1977, by Ben
Hmida in a large consanguineous Tunisian family with Duchenne like phenotype affecting both
girls and boys. It is characterized by a childhood onset of progressive muscular dystrophy. The
mean age of onset is between 5 and 6 years, and half of these patients lose ambulation by age
12 years. Calf hypertrophy and lumbar lordosis are common. Diagnosis confirmation is based on
muscle biopsy and molecular study. The scarcities of specialized centers and difficulties that can
prevent patients from benefitting from immunohistochemical analysis complicate their
diagnosis, management, and genetic counseling. We therefore propose, in our context, that
screening for c.525delT could be the first test for AR-LGMD, with a good cost/benefit ratio in
public health strategies, until access to immunohistochemical analysis will be generalized. This
might be useful not only for management of patients, genetic counseling, and prenatal diagnosis
in families but also for novel therapeutic approaches and future clinical trials
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
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
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