1,720,965 research outputs found
Neurodevelopmental genetic drivers of the human 22q11.2 region
Get PDFDespite substantial progress have been made to understand the wide spectrum of congenital anomalies and birth defects associated with 22q11.2 segmental aneuploidies, the highest comorbidity rate for neurodevelopmental disorders (NDDs) has been also recently showed in this cohort compared to any other genetic conditions. To further define, hence to experimentally confirm, the pivotal neurodevelopmental role of the 22q11.2 region we applied different approaches to identify those genes whose impairment may not only impinge on 22q11.2 rearrangements’ medical history as modifying factors, but that may also constitute per se NDDs’ driver-genes. Through a “genotype-first” approach we identified 8 genes (ARVCF, CLDN5, DGCR8, RANBP1, TRMT2A, MED15, AIFM3 and LZTR1) that, according to the enrichment criteria applied, can exert a downstream functional convergence upon those circuits involved in physiological neurodevelopment as well as in pathophysiological behaviors. By targeted resequencing two prioritized genes, ARVCF and LZTR1, we proved that: (i) their impairment can contribute to the genetic background toward variability of neurodevelopmental phenotypes seen in individuals carrying 22q11.2 CNVs; (ii) these genes may constitute per se NDD driver. Hence, in order to identify novel NDD genes potentially sensitive to dosage imbalance within the distal 22q11.2 chromosomal region, we developed a “phenotype-first” approach building the distal 22q11.2 CNVs “co-morbidity” map that allowed us: (i) to elucidate that the 22q11.2 distal deletion and duplication events respectively clinically define a syndromic versus a non-syndromic neurodevelopmental disorder; (ii) to identify two small NDD genomic regions of interest harbored within. Deeply investigating two rearranged 22q11.22q11.23 carriers’ families, whose segmental aneuploidies were retrieved fully incorporating one of our predicted pathogenic frames, we functionally showed that the RAB36 gene may play a role in NDD pathogenesis acting in a dosage-dependent manner. Overall, these research project’s results added new insights on the elucidation of 22q11.2-related neurobehavioral outcomes as well as of NDDs’ neuroscience physiopathology, widening the scope on those dynamics that constantly shape and re-shape the human brain
One-Stage Computer-Guided Customized Management of Skeletal Asymmetry by Concomitant Proportional Condylectomy and Orthognathic Surgery in Patients With Unilateral Condylar Hyperplasia
No full textPurpose: Facial asymmetry associated with unilateral condylar hyperplasia can benefit from condylectomy, which aims to arrest the pathologic condylar growth and restore an appropriate posterior height. However, there are several cases in which condylar hyperplasia is combined with various dentofacial deformities, for which joint surgery has to be accompanied by concomitant orthognathic surgery. The literature is relatively poor of examples in which virtual planning for orthognathic surgery includes the evaluation of condylectomy, which is often manually performed. The aim of this study was to present and discuss a workflow for 1-stage computer-guided customized management of skeletal asymmetry by simultaneous condylectomy and orthognathic surgery. Materials and Methods: Five patients were enrolled in this study from 2018 to 2019. All patients underwent combined virtual planning of orthognathic surgery and condylectomy. Virtual surgery was translated into real surgical coordinates using patient-specific surgical guides and custom-designed osteosynthesis plates. Results: All surgical procedures were uneventful, and in all patients, virtual planning was successfully brought into the operating room with high accuracy, as confirmed by superimposition analyses. Symmetrization of the face and achievement of correct occlusion were observed in all cases. Conclusions: The presented protocol is a reliable solution for the combined planning of orthognathic surgery and condylectomy. Virtual planning, surgical guides, and custom-designed plates allow computerized simulations to be replicated in the real patient
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
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
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
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