1,721,009 research outputs found
Next generation exome sequencing of Pancreatic Neuroendocrine Neoplasms (PanNENs)
No full textScopo: Identificare alterazioni molecolari clinicamente rilevanti associate alle neoplasie endocrine del pancreas (PanNENs).
Materiali e Metodi: Un pannello di 37 PanNENs è stato studiato con tecniche di sequenziamento alla ricerca di alterazioni cromosomiche e delle regioni codificanti (esoma). La validazione è stata eseguita su un gruppo esteso a 128 PanNENs mediante tecnologia di sequenziamento ortogonale (Ion Torrent). Una serie di 90 campioni è stata analizzata anche mediante “SNP array” per identificare alterazioni cromosomiche numeriche. Mediante immunoistochimica è stata studiata l’espressione proteica di Menina e Atm su un totale di 171 PanNENs.
Risultati: Sono state identificate mutazioni ricorrenti in geni noti e altri mai descritti in precedenza che comprendono ARID1A (2.5%), ATM (5.5%), ATRX (12%), DAXX (20%), MEN1 (35%), PTEN (8%), TSC2 (5.5%), and TAF1 (3.8%). Le mutazioni di ATRX, DAXX e PTEN si verificano in un set di campioni (50%) che mostra perdita cromosomica ricorrente (RCL) nei cromosomi 1,2,3,6,8,10,11,15,16,18,21,22 e X. Il gruppo RCL mostra un aumentato tasso di mutazione complessiva (+59%) correlato con la presenza di mutazioni di MEN1 (P < 0.001) e presenza di metastasi a distanza (P = 0.001).
Conclusioni: Abbiamo descritto per la prima volta una sottoclasse di PanNENs nella quale le mutazioni del gene MEN1 identificano un sottogruppo caratterizzato dalla presenza di un pattern consistente di ricorrenti perdite cromosomiche (RCL). I pazienti all'interno di questa classe mostrano una prognosi migliore rispetto ai pazienti con condizioni cliniche simili privi di RCL.Purpose: To identify clinically relevant molecular alterations associated to pancreatic endocrine neoplasms (PanNENs).
Patients and Methods: Exome sequencing and chromosomal copy number aberrations were investigated on a discovery set of 37 PanNENs. Exome sequencing data were validated in 128 PanNENs using Ion Torrent technology. A series of 90 samples were also analyzed by SNP arrays to investigate the presence of chromosome copy number alterations. A series of 171 PanNENs was further investigated by immunohistochemistry for Menin and Atm.
Results: Recurrent mutations implicating a number of known and previously unidentified genes included ARID1A (2.5%), ATM (5.5%), ATRX (12%), DAXX (20%), MEN1 (35%), PTEN (8%), TSC2 (5.5%), and TAF1 (3.8%). ATRX, DAXX and PTEN mutations clustered in a group of samples (50%) showing a set of recurrent chromosome losses (RCL) in chromosomes 1,2,3,6,8,10,11,15, 16,18,21,22 and X. The RCL group showed an increased (+59%) overall mutation rate, correlated with the presence of MEN1 mutations (P < 0.001) and presence of distant metastasis (P = 0.001).
Conclusions: We describe for the first time a subclass of PanNENs in which the mutations in MEN1 gene identify a subclass distinguished by the presence of a highly consistent pattern of recurrent chromosome losses. Patients within this class show a better prognosis when compared with patients with similar clinical conditions without the RCL features
Primary mediastinal B-cell lymphoma: hypermutation of the BCL6 gene targets motifs different from those in diffuse large B-cell and follicular lymphoma
No full text
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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