1,720,955 research outputs found
Tuberous sclerosis complex type 2 in a subgroup of 7 pediatric patients
Get PDFTuberous sclerosis complex (TSC) is a multisystemic genetic disorder with autosomal dominant inheritance, characterized by hamartomas that affect multiple organs, including the central nervous system, skin, heart, kidneys, and lungs. It occurs due to variants in the tumor suppressor genes TSC1 or TSC2. In this case series, we present a subgroup of 7 pediatric patients with variants in the TSC2 gene and discuss their genotypes, phenotypes as well as genotype-phenotype correlation
PEDIATRIC ANTI-NMDA RECEPTOR ENCEPHALITIS: A CASE REPORT
Get PDFAnti-N-methyl-D-aspartate (NMDA) receptor encephalitis is an autoimmune inflammation of the brain parenchyma mediated with autoantibodies against the NMDA receptors in the neuronal cells. It is the most common form of autoimmune encephalitides in pediatric patients. In this case report, we present the case of a child with anti-NMDAR encephalitis, refractory to the first-line therapy
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe 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
Current mutation-targeted DMD treatments and their theoretical application in a sub-group of Albanian patients
Get PDFAlthough the molecular origins of Duchenne muscular dystrophy have been known for several years, there is still no curative treatment for the disease. Exon skipping is a mutation-specific approach; which exon to skip depends on the size and location of the mutation. As such, having a genetic diagnosis of the disease is important. The genetic diagnosis mentioned in this paper was made privately in a sub-group of DMD patients from our clinic. Nine out of fourteen patients (64%) have mutations that are targeted by therapies that are currently licensed or undergoing Phase III trials
Variations on the Author
Get PDF“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
Get PDFWe 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
Get PDFWe 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
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