30,206 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
Maria Bersani
No full textLa voce illustra la biografia e l'apporto letterario dato da Maria Bersani alla letteratura per l'infanziaThe headword explains the biography and the contribution of the author Maria Bersani to the children's literatur
Variations on the Author
No full text“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
O curso de licenciatura em educação física da Universidade Federal de Santa Catarina: suas concepções de ensino e de educação física
No full textDissertação (mestrado) - Universidade Federal de Santa Maria. Centro de Educação Fisica e Desporto
Erratum: Lack of immunity against rubella among Italian young adults. [BMC Infect Dis., 17, (2017) (199)] Doi: 10.1186/s12879-017-2295-y
No full textAfter publication of this article [1], the authors noted that the given names and family names of all authors had been inverted, and are therefore incorrect in the original article. In the original article, the author names appear as the following: Gallone Maria Serena, Gallone Maria Filomena, Larocca Angela Maria Vittoria, Germinario Cinzia and Tafuri Silvio. However, this is incorrect, and the author names should appear as per the below: Maria Serena Gallone, Maria Filomena Gallone, Angela Maria Vittoria Larocca, Cinzia Germinario, Silvio Tafuri. The author names have been corrected in the author list and the citation for this Erratum
A theory based proposal to evaluate Patient-Centred Communication in medical consultations: the Verona Patient-centred Communication Evaluation scale (VR-COPE).
No full textAbstract
Purpose – The prupose of this paper is to present the development of the Verona Patient-Centred
Communication Evaluation (VR-COPE) scale, together with its psychometric properties. The nine item
rating scale assesses the content and relational aspects of patient-centred communication during
medical consultations on the basis of a multidimensional evaluation as suggested by the more recent
literature in the field. Each item is defined by operational definitions.
Design/methodology/approach – A sample of 246 transcribed primary care consultations was
rated with the VR-COPE. Explorative factor analysis, Pearson correlation coefficients and internal
consistency using Cronbach’s alpha were calculated. Convergent validity with the Verona Medical
Interview Classification System (VR-MICS) was also tested. A sub sample of 32 consultations was used
to assess inter-rater reliability.
Findings – Interrater reliability and internal consistency were good (overall Cronbach alpha 1⁄4 0:75).
Four factors (explaining 74 per cent of the variance) were extracted by exploratory factor analysis. Six
items of the VR-COPE correlated significantly with specific communication skills evidenced by the
VR-MICS and pertained to the physician’s ability to explore medical or psychosocial issues. The
VR-COPE items on interview structure and shared decision, more related to process than to specific
skills, had no equivalent in the VR-MICS.
Originality/value – The new rating scale responds to the need in communication research for a
multidimensional scale that combines the evaluation of specific skills and process aspects
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 textImagens de Otto Maria Carpeaux: esboço de biografia
No full textTese (doutorado) - Universidade Federal de Santa Catarina, Centro de Filosofia e Ciências Humanas, Programa de Pós-Graduação em História, Florianópolis, 2015.Este esboço de biografia procura citar algumas imagens de Otto Maria Carpeaux: construções biográficas de naturezas múltiplas, elaboradas em contextos, por atores e sob condições igualmente díspares. Está constituído a partir de uma visão crítica da História, o que permite que ?outras imagens?, fragmentárias e não monumentais, também tenham espaço. Em diálogo com o princípio da montagem, este esboço apresenta-se em duas partes. Na primeira, Imagens possíveis, estão citadas as imagens elaboradas em vida e post mortem acerca do austríaco-brasileiro que nasceu em Viena em 1900, se exilou no Brasil em 1939 e morreu no Rio de Janeiro, em 1978. Na segunda, Montagens possíveis, apresentam-se duas possibilidades de exercício biográfico: pela leitura alegórica do documentário O velho e o Novo (Otto Maria Carpeaux), entendido como instrumento de intervenção no contexto ditatorial brasileiro e de uma reelaboração biográfica concernentes às suas experiências europeias; e pelo Caderno de imagens críticas, registro dos encontros em Carpeaux pelo meio de imagens críticas produzidas a partir da cesura do presente.Abstract : This biographical sketch attempts to quote some images of Otto Maria Carpeaux: various types of biographical constructions, carried out in different contexts by disparate authors under conditions just as distinct. It stems from a critical view of history, allowing for ?other images? fragmented and non-monumental ? to share the space.In dialogue with the montage principle, this sketch has two parts. The first, Possible Images, quotes the images produced during and after the life of the Austrian-Brazilian, who was born in Vienna in 1900, went to Brazil in exile in 1939 and died in Rio de Janeiro in 1978. The second part, Possible Montages, presents two possibilities of a biographical exercise: through the allegorical reading of documentary O Velho e o Novo (Otto Maria Carpeaux), understood as an instrument of intervention in the Brazilian dictatorship context and as a biographical retelling of the author?s European experiences; and through my Scrapbook of Critical Images, a record of the encounters in Carpeaux through critical images produced from the caesura of the present
Maria José ao encontro de Tchekov
No full text“A Carta da Corcunda para o Serralheiro” (“Letter from the Hunchback Girl to the Metalworker”), signed by Maria José, was first performed in a theatre show in 1988 (by actress-director Maria do Céu Guerra), two years before the typescript was published in book form for the first time by Teresa Rita Lopes. The evidence upon which this article is built is that it was the theatre that revealed the dramatic destination of this singular epistle of the only female heteronym that Fernando Pessoa invented, which was also the last heteronym to be created by the author. The dramatic construction of Maria José can be approximated to the character-building strategies in Anton Chekhov’s realist dramaturgy, in a way that differs from Pessoa’s other dramaturgical experiences. The analysis of Chekhov’s ascendancy over Stanislavski’s research, as well as the importance of Schopenhauer’s conception of the tragicomic, which is simultaneously projected onto Chekhov’s theatre and Maria José’s profile, are favourable lines of reading for this rapprochement between Pessoa and the Russian fiction writer and playwright. Pessoa’s readings of Chekhov’s texts (such as the play Uncle Vania and the short story “Vanka”) provide relevant data for assessing the magnitude of this encounter.“A Carta da Corcunda para o Serralheiro”, assinada por Maria José, começou por ser difundida num espectáculo de teatro em 1988 (pela actriz-encenadora Maria do Céu Guerra) dois anos antes de o dactiloscrito se ver publicado em livro, pela primeira vez, por Teresa Rita Lopes. Parte-se da evidência de ter sido o teatro a revelar a destinação dramática da epístola singular do único heterónimo mulher que Fernando Pessoa inventou, que terá sido também o último a ser criado pelo autor. A construção dramática de Maria José pode ser aproximada às estratégias de construção de personagem na dramaturgia realista de Anton Tchekov, de um modo que se distingue de outras experiências dramatúrgicas de Pessoa. A análise do ascendente de Tchekov sobre as pesquisas de Stanislavski, bem como a importância da concepção de tragicómico em Schopenhauer, que se projecta em simultâneo sobre o teatro de Tchekov e sobre o perfil de Maria José, são linhas de leitura propícias para esta aproximação entre Pessoa e o ficcionista e dramaturgo russo. As leituras de textos de Tchekov por parte de Pessoa (como o caso da peça Tio Vânia e o conto “Vanka”) fornecem dados relevantes para avaliar a magnitude deste encontro
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