1,721,011 research outputs found
Hereditary connective tissue disorders: novel genotype-phenotype correlations, disease-genes and pathogenetic factors affecting disability
No full textHereditary soft connective tissue disorders (HCTDs)are a group of clinically variable and genetically heterogeneous conditions caused by constitutional abnormalities of the various components of the extracellular matrix (ECM). Although singularly rare, this community of syndromes are an emerging clinical phenomenon commonly encountered in different specialized settings, including but not limited to rheumatology, physical medicine, cardiology/heart surgery, and clinical genetics. EDS is probably the most common reason of referral in outpatient services dedicated to HCTDs. The 2017 international classification identifies 13 different clinical EDS forms due to mutations in no less than 19 genes. Nevertheless, probably no more than 20% of the patients who have a clinical diagnosis of EDS receive a molecular confirmation by the identification of the responsible mutation. On the other hand, EDS shares many features with the other HCTDs, and such a clinical similarity likely mirrors a common pathogenesis, at least, in specific cases. Therefore, it is expected that novel genes and novel genotype-phenotype correlations for known genes will be identified for EDS. Understanding the biological variability underpinning such a clinical variability is of utmost importance for seeking a tailored approach in the management of these patients. San Camillo-Forlanini Hospital (SCFH) is the Coordinator of the Regional (Lazio, Italy) reference centers for EDS and full member of the European Reference Network (ERN) for rare musculoskeletal diseases (ReCONNET). Since 2010, more than 800 patients who were referred to SCFH, received a diagnosis of EDS and were put under periodic medical follow-up. The aims of this PhD project were: 1) to highlight new genotype-phenotype correlations in HCTDs; 2) to identify novel disease genes for EDS-like phenotypes; 3) to explore disability determinants in a EDS patient cohort. In this context, for the years 2017-2019, the results of the current PhD project included (i) the discovery of the molecular cause of the exceptionally rare X-linked EDS variant, which resulted mutated in FLNA; (ii) the identification of TAB2 and MAP3K7, two genes encoding components of the non-canonic TGFβ-pathway, as responsible of phenotypes resembling EDS; (iii) characterization of musculoskeletal phenotype of hypermobile EDS, the most common EDS variant; (iv) characterization of the skin phenotype of classical EDS, the second most common EDS variant; (v) the exploration of the neurodevelopmental attributes of joint hypermobility in children with different forms of EDS and adults with hEDS in order to open the path for the identification of severity scoring in these disorders; (vi) the delineation of a severity scoring for adults with hypermobile EDS and HSD (hEDS/HSD); (vii) the clinical and molecular characterization of osteogenesis imperfecta/EDS overlap (OI/EDS); and (viii) the exploration of cellular effects of the mutations identified in TAB2 and MAP3K7. The related research activity resulted in 15 publications and SCFH was also represented in the International committee who published the current classification on EDS. The project has been nurtured by a multispecialistic team, aimed at exploring the biological and clinical variability of HCTDs with a true translational intent
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
Author Under Sail The Imagination of Jack London, 1893-1902
No full textIn Author Under Sail, Jay Williams offers the first complete literary biography of Jack London as a professional writer engaged in the labor of writing. It examines the authorial imagination in London's work, the use of imagination in both his fiction and nonfiction, and the ways he defined imagination in the creative process in his business dealings with his publishers, editors, and agents. In this first volume of a two-volume biography, Williams traverses the years 1893 to 1902, from London's "Story of a Typhoon" to The People of the Abyss. The Jack London who emerges in the pages of Author Under Sail is a writer whose partnership with publishers, most notably his productive alliance with George Brett of Macmillan, was one of the most formative in American literary history. London pioneered many author models during the heyday of realism and naturalism, blurring the boundaries of these popular genres by focusing on absorption and theatricality and the representation of the seen and unseen. London created an impassioned, sincere, and extremely personal realism unlike that of other American writers of the time. Author Under Sail is a literary tour de force that reveals the full range of London as writer, creative citizen, and entrepreneur at the same time it sheds light on the maverick side of machine-age literature.Intro -- Title Page -- Copyright Page -- Dedication -- Contents -- Acknowledgments -- Introduction -- 1. Spirit Truth -- 2. From Absorption to Theatricality and Back Again -- 3. "I Will Build a New Present" -- 4. Sons as Authors -- 5. Fathers as Publishers -- 6. The Daughter as Author -- 7. Lovers as Authors -- 8. At Sea with the Family -- 9. Yellow News, Yellow Stories -- 10. The Return Home -- Notes -- Bibliography -- Index -- About Jay WilliamsIn Author Under Sail, Jay Williams offers the first complete literary biography of Jack London as a professional writer engaged in the labor of writing. It examines the authorial imagination in London's work, the use of imagination in both his fiction and nonfiction, and the ways he defined imagination in the creative process in his business dealings with his publishers, editors, and agents. In this first volume of a two-volume biography, Williams traverses the years 1893 to 1902, from London's "Story of a Typhoon" to The People of the Abyss. The Jack London who emerges in the pages of Author Under Sail is a writer whose partnership with publishers, most notably his productive alliance with George Brett of Macmillan, was one of the most formative in American literary history. London pioneered many author models during the heyday of realism and naturalism, blurring the boundaries of these popular genres by focusing on absorption and theatricality and the representation of the seen and unseen. London created an impassioned, sincere, and extremely personal realism unlike that of other American writers of the time. Author Under Sail is a literary tour de force that reveals the full range of London as writer, creative citizen, and entrepreneur at the same time it sheds light on the maverick side of machine-age literature.Description based on publisher supplied metadata and other sources.Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, YYYY. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries
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