1,720,965 research outputs found
Genetica delle aortopatie toraciche
Full text linkGli aneurismi dell’aorta toracica (AAT) rappresentano una significativa causa di mortalità e morbilità nella popolazione dei paesi occidentali. Tra le cause di AAT vi sono anche patologie valvolari cardiache e del connettivo, entrambi oggetto di questa ricerca attraverso lo studio della valvola aortica bicuspide (BAV) e della sindrome di Loeys-Dietz (LDS).
La prima parte della ricerca è stata dedicata allo studio delle basi genetiche di BAV-AAT non sindromico. Sono stati reclutati 20 pazienti e 77 familiari di I grado ed è stata eseguita analisi Sanger del gene candidato ACTA2, seguita da analisi di pannelli di geni coinvolti in BAV e di whole exome sequencing (WES). Le analisi di ACTA2 e del pannello genico sono risultate negative nei 20 pazienti, suggerendo assenza di coinvolgimento maggiore di ACTA2 in BAV-AAT. Le analisi WES sono state effettuate in 5 famiglie con 2 o più familiari con BAV e AAT. L’approccio analitico allo studio delle varianti non ha individuato forti geni candidati suggerendo nuove vie da percorrere, quali whole genome sequencing, per riuscire ad identificare i meccanismi molecolare alla base di BAV-AAT.
La seconda parte della ricerca è stata dedicata allo studio della relazione genotipo-fenotipo in LDS. È stata eseguita una ricerca sistematica della letteratura medica ed è stata raccolta la casistica di tre Centri Internazionali coinvolti nella diagnostica di LDS. È stato costruito un database dedicato su piattaforma web LOVD v.3 (Leiden Open Variation Database) in cui sono stati raccolti 595 casi. Sono emersi degli hot-spot mutazionali nei singoli geni senza una forte evidenza di correlazione fenotipica; le mutazioni sono principalmente missenso; i casi de novo sono circa il 60%; sono state osservate lievi differenze fenotipiche associate ai diversi geni. I dettagli sono visibili e fruibili sia nei dati molecolari che clinici a beneficio dei Centri Diagnostici in LDS, il database sarà costantemente aggiornato e nuovi centri saranno coinvolti.Thoracic aortic aneurysms (TAA) are an important cause of mortality and morbidity in Eastern countries. Among the main causes of TAA, there are valvular aortic diseases and connective tissue disorders, both main object of this research project through the study of bicuspid aortic valve (BAV) and Loeys- Dietz Syndrome (LDS).
The first focus of this research is on the genetic study of non syndromic BAV-TAA. We recruited 20 patients and 77 first degree relatives and performed Sanger sequencing analysis of the candidate gene ACTA2, followed by a targeted panel analysis of known genes involved in BAV, and whole exome sequencing analysis (WES) in familiar cases. ACTA2 analysis and the targeted panel revealed no known mutations in the 20 patients, suggesting no major role of ACTA2 in BAV-TAA disorder. WES analysis was performed in 5 families with 2 or more relatives with BAV and TAA. Analytic study approach of variants filtered and annotated revealed no strong candidate genes, suggesting new strategies, such as whole genome sequencing, to identify molecular mechanism of BAV-TAA.
The second focus of this research is on genotype-phenotype correlations in LDS. Systematic research of medical literature was performed along with collection of cases of three International Centers involved in LDS diagnosis. We built a web database LOVD v.3 (Leiden Open Variation Database) where we collected 595 cases. Mutational hot-spots were observed without a strong evidence of phenotypic correlation; mutations are mainly missense; de novo cases are about 60%; very mild differences in phenotype associate to different gene were observed. Database details, both molecular and clinical data, are open and of interest for LDS Diagnostic Centers; the LDS-LOVD will be constantly updated and new centers will be involved
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature
No full textAutosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of genodermatoses characterized by disorders of cornification. ARCI11 (MIM #602400) includes two syndromes caused by mutations in the ST14 (suppression of tumorigenicity 14) gene: IFAH (autosomal recessive congenital ichthyosis, follicular atrophoderma and hypotrichosis) and ARIH (autosomal recessive ichthyosis and hypotrichosis).
All the reported ARCI11 cases so far belonged to consanguineous Turkish or Arab families].
We describe a novel p.Glu519Gln missense mutation in a patient affected by IFAH from a non consanguineous Rumanian family
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
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
- …
