3,999 research outputs found
Hereditary thrombocytopenias: A growing list of disorders
No full textThe introduction of high throughput sequencing (HTS) techniques greatly improved the knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different forms caused by molecular defects affecting at least 32 genes have been identified; along with the discovery of new disease-causing genes, pathogenetic mechanisms of thrombocytopenia have been better elucidated. Although the clinical picture of ITs is heterogeneous, bleeding has been long considered the major clinical problem for patients with IT. Conversely, the current scenario indicates that patients with some of the most common ITs are at risk of developing additional disorders more dangerous than thrombocytopenia itself during life. In particular, MYH9 mutations result in congenital macrothrombocytopenia and predispose to kidney failure, hearing loss, and cataracts, MPL and MECOM mutations cause congenital thrombocytopenia evolving into bone marrow failure, whereas thrombocytopenias caused by RUNX1, ANKRD26, and ETV6 mutations are characterized by predisposition to hematological malignancies. Making a definite diagnosis of these forms is crucial to provide patients with the most appropriate treatment, follow-up, and counseling. In this review, the ITs known to date are discussed, with specific attention focused on clinical presentations and diagnostic criteria for ITs predisposing to additional illnesses. The currently available therapeutic options for the different forms of IT are illustrated
A imagem de Alessandro Baricco no Brasil
No full textDissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Comunicação e Expressão, Programa de Pós-Graduação em Estudos da Tradução, Florianópolis, 2013.Com a intenção de delinear o modo pelo qual o escritor italiano Alessandro Baricco se inseriu no sistema literário brasileiro e os caminhos percorridos pelos seus livros traduzidos, esta dissertação dá voz às experiências tradutórias de seus tradutores. A inserção de Bariccono Brasil tem seu início em 1997, através de uma proposição da Profa. Dra. Roberta Barni à editora Iluminuras da tradução de Oceano Mare. A partir daí, outras sete obras foram publicadas no Brasil, sendo três delas traduzidas por Roberta Barni e as outras quatro por quatro tradutores diferentes. De um lado, considera-se o tradutor como figura principal namediação entre culturas, e, de outro, se analisa a realidade desta figuradentro do sistema literário, sua invisibilidade, seus limites e o exercíciode sua profissão. A pesquisa conta, ainda, com críticas e resenhas referentes ao autor italiano publicadas em jornais consagrados no Brasil, considerando estas como parte constituinte da imagem de Baricco refletida em território nacional. Abstract : Intending to delineate the way the Italian writer Alessandro Baricco has been inserted in the Brazilian literary system and the paths his translated books have followed, this thesis gives voice to the translating experiences of his translators. Baricco's insertion in Brazil began in 1997, through a personal project of Dr. Roberta Barni, with her translation of Oceano Mare. Since then, seven other of his works have been published in Brazil, three of which were translated by Roberta Barni and the other four by four different translators. On the one hand,the translator is considered as the main figure in mediation betweencultures and, on the other, this figure's reality is analyzed within theliterary system: its invisibility, its limits and its professional practice. Criticisms and reviews of this Italian author published in well established Brazilian newspapers are also considered, with the understanding that they are part of Baricco's image reflected here
Griselda e Atalia: exempla femminili di vizi e di virtù nel teatro musicale di Apostolo Zeno
No full textThis dissertation studies two libretti of Apostolo Zeno: the opera «Griselda» (Venice, 1701) and the oratorio «Joaz» (Vienna, 1726) along with the music composed by Albinoni, Predieri, Giovanni Maria Bononcini, Orlandini, Alessandro Scarlatti, Francesco Bartolomeo Conti, Vivaldi, Caldara and Benedetto Marcello. A systematic examination of libretti, scores, textual revisions, contemporary chronicles and documents sheds new light on the genesis of these works, among which Vivaldi's «Griselda», based on Goldoni's revision, presents a special interest. Moreover, the thesis reconsiders Zeno's libretto reform in the light of his unpublished correspondence, so far neglected by musicological studies. These documents reveal for the first time Zeno's opinions on composers such as Albinoni, Porta, Orlandini, Carapella, Caldara, Fux, and librettists such as Noris, Silvani, Salvi, Frigimelica Roberti, Conti, Rolli, Stampiglia and Metastasio
Diagnosis and Management of Inherited Thrombocytopenias
No full textThe number of recognized causes of inherited thrombocytopenias has grown in the past 10 years and there are now more than 18 thrombocytopenic disorders with characterized genetic mutations. Moreover, the pathogenic mechanisms of many forms of inherited thrombocytopenia have been identified and prognosis of different disorders, ranging from unfavorable to very good, has been defined. In addition, for some inherited thrombocytopenias, therapies are now available to improve both survival and quality of life for persons with these conditions. Therefore, it is important to recognize when a low platelet count reflects an inherited disorder, and establish a correct diagnosis; however, this remains a challenge because documented evidences about these diseases are scarce. In this review, we address how to diagnose inherited thrombocytopenia, how to differentiate these conditions from immune thrombocytopenia, present a new and simple diagnostic algorithm, and discuss the different therapeutic options. We also emphasize that further research on these disorders is needed, as about half of patients with inherited thrombocytopenias have a disease that is not yet characterized
Inherited thrombocytopenias. The evolving spectrum.
No full textThe chapter of inherited thrombocytopenias has expanded greatly over the last decade and many “new” forms deriving from mutations in “new” genes have been identified. Nevertheless, nearly half of patients remain without a definite diagnosis because their illnesses have not yet been described. The diagnostic approach to these diseases can still take advantage of the algorithm proposed by the Italian Platelet Study Group in 2003, although an update is required to include the recently described disorders. So far, transfusions of platelet concentrates have represented the main tool for preventing or treating bleedings, while haematopoietic stem cell transplantation has been reserved for patients with very severe forms. However, recent disclosure that an oral thrombopoietin mimetic is effective in increasing platelet count in patients with MYH9 -related thrombocytopenia opened new therapeutic perspectives. This review summarizes the general aspects of inherited thrombocytopenias and describes in more detail MYH9 -related diseases (encompassing four thrombocytopenias previously recognized as separate diseases) and the recently described ANKRD26 -related thrombocytopenia, which are among the most frequent forms of inherited thrombocytopenia
La maturità di Alessandro Fei del Barbiere, in bilico tra Maniera e Riforma
No full textThis article studies the mature career of the Florentine painter Alessandro Fei del Barbiere (1537-1592), beginning with the rediscovery of the 'Ascension' altarpiece formerly in the Albizi Chapel in the destroyed church of San Pier Maggiore, Florence. Studying this painting and others recorded in 1584 by the biographer Raffaello Borghini, such as the two altarpieces for Santa Maria delle Grazie and the Madonna dell'Umiltà in Pistoia, the author reconstructs a body of works showing how in the 1580s Fei gradually went beyond the archaic style of his apprenticeship - he had been trained by Ridolfo del Ghirlandaio and Pierfrancesco Foschi, but was also marked by the Maniera of Vasari - evolving towards naturalism in both mimesis and pictorial handling. In Florence, his development partly parallels that of Santi di Tito and his circle, but Fei was also influenced by a probable sojourn during the early part of that decade in Rome, where he could have been inspired by Girolamo Muziano and the painters working for Pope Gregory XIII. Among other proposals, the author suggests that the artist was responsible for decorating the chancel of Fiesole Cathedral (c. 1584-1589), which consisted of an altarpiece, only rarely discussed by scholars, and a cycle of frescoes hitherto attributed to Nicodemo Ferrucci
Tra socialdemocrazie e Perestrojka. Le relazioni internazionali del Pci attraverso le carte di Alessandro Natta
No full textThis essay reconstructs the foreign policy of the Italian Communist Party during the four
years of Alessandro Natta’s secretariat (1984-1988) through largely original archival documentation,
from the Alessandro Natta Fonds of the Historical Archive of the Chamber of
Deputies. Natta’s papers are also cross-referenced with those kept in the PCI Archive at the
Gramsci Foundation. The author analyses the relationship that the PCI establishes with
Gorbachev’s Perestroika, Deng’s China, and European social democracies during the last
years of the Cold War
Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro.
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Peripheral arteriopathy of the lower limbs in a patient with severe congenital thrombocytopenia.
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