1,721,006 research outputs found
CORRELAZIONE GENOTIPO-FENOTIPO NELLA CARDIOMIOPATIA ARITMOGENA DEL VENTRICOLO DESTRO
No full textABSTRACT 1 Background. With recognition of disease-causing genes in arrhythmogenic right ventricular cardiomyopathy, mutation
analysis is being applied.
Methods and Results. The role of genotyping in familial assessment for arrhythmogenic right ventricular cardiomyopathy
was investigated, including the prevalence of mutations in known causal genes, the penetrance and expressivity in
genotyped families, and the utility of the 2010 Task Force criteria in clinical diagnosis. Clinical and molecular genetic
evaluation was performed in 210 first-degree and 45 second-degree relatives from 100 families. In 51 families, the
proband was deceased. The living probands had a high prevalence of ECG abnormalities (89%) and ventricular
arrhythmia (78%) and evidence of more severe disease than relatives. Definite or probable causal mutations were found
in 58% of families and 73% of living probands, of whom 28% had an additional desmosomal variant (ie, mutation or
polymorphism). Ninety-three relatives had a causal mutation; 33% fulfilled the 2010 criteria, whereas only 19% satisfied
the 1994 version (P=0.03). An additional desmosomal gene variant was found in 10% and was associated with a 5-fold
increased risk of developing penetrant disease (odds ratio, 4.7; 95% confidence interval, 1.1 to 20.4; P=0.04).
Conclusions. Arrhythmogenic right ventricular cardiomyopathy is a genetically complex disease characterized by marked
intrafamilial phenotype diversity. Penetrance is definition dependent and is greater with the 2010 criteria compared with
the 1994 criteria. Relatives harboring >1 genetic variant had significantly increased risk of developing clinical disease,
potentially an important determinant of the phenotypic heterogeneity seen within families with arrhythmogenic right
ventricular cardiomyopathy. ABSTRACT 2 Aims. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease predominantly caused by mutations in desmosomal protein genes. Lamin A/C gene (LMNA) mutations are associated with dilated cardiomyopathy, conduction abnormalities and high incidence of sudden cardiac death. In this study we screened a large cohort of ARVC patients for LMNA mutations.
Methods and Results. One hundred and eight patients from unrelated families with borderline (n= 27) or definite (n= 81) diagnosis of ARVC were genetically tested for five desmosomal genes and LMNA. Sixty-one (56.5 %) were positive for desmosomal gene mutations. Standard polymerase chain reaction (PCR) amplification of the 12 protein-coding LMNA exons was performed and mutational screening performed by direct sequencing. Four patients (4%) without desmosomal gene mutations carried LMNA variants. Three had severe RV involvement, and during follow-up three died (two suddenly and one from congestive heart failure); all three had conduction abnormalities on resting 12 lead ECG. Myocardial tissue from two patients showed myocyte loss and fibro-fatty replacement. In one of these, immunohistochemical staining with antibody to plakoglobin showed reduced/absent staining of the intercalated discs in the myocardium.
Conclusion. LMNA mutations can be found in severe forms of ARVC. LMNA should be added to desmosomal genes when genetically testing patients with suspected ARVC, particularly when they also have ECG evidence for conduction disease
Le pitture della cripta del Gonfalone a Tricase (Lecce): problematiche storico-artistiche e contributo alla identificazione dei pigmenti attraverso FRX
Full text link
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
Severe Left Ventricular Wall Thinning and Extensive Fibrosis Without Evolution to End Stage Disease in a Patient With Hypertrophic Cardiomyopathy
No full textThe authors report the case of a patient with hypertrophic cardiomyopathy who developed progressive and severe left ventricular wall thinning, as assessed by two-dimensional echocardiography, despite a preserved supranormal ejection fraction and an absence of cardiac symptoms. Extensive fibrosis was identified on cardiovascular magnetic resonance. (J Am Soc Echocardiogr 2009; 22: 1196.e1-1196.e2.
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
- …
