1,721,090 research outputs found
Current understanding of the role of cytoskeletal cross-linkers in the onset and development of cardiomyopathies
Full text linkCardiomyopathies affect individuals worldwide, without regard to age, sex and ethnicity and are associated with significant morbidity and mortality. Inherited cardiomyopathies account for a relevant part of these conditions. Although progresses have been made over the years, early diagnosis and curative therapies are still challenging. Understanding the events occurring in normal and diseased cardiac cells is crucial, as they are important determinants of overall heart function. Besides chemical and molecular events, there are also structural and mechanical phenomena that require to be investigated. Cell structure and mechanics largely depend from the cytoskeleton, which is composed by filamentous proteins that can be cross-linked via accessory proteins. Alpha-actinin 2 (ACTN2), filamin C (FLNC) and dystrophin are three major actin cross-linkers that extensively contribute to the regulation of cell structure and mechanics. Hereby, we review the current understanding of the roles played by ACTN2, FLNC and dystrophin in the onset and progress of inherited cardiomyopathies. With our work, we aim to set the stage for new approaches to study the cardiomyopathies, which might reveal new therapeutic targets and broaden the panel of genes to be screened
PROTOCOLLO-GUIDA NELLA SPERIMENTAZIONE CLINICA SUI FARMACI VASODILATATORI NELLO SCOMPENSO CARDIACO CRONICO | [Guideline protocol in the clinical evaluation of the vasodilators drugs in chronic heart failure]
No full text
Estimating Frequency of Familial Dilated Cardiomyopathy in the Presence of Misclassification Errors
No full textDilated cardiomyopathy is a disease of unknown cause characterized by
dilation and impaired function of one or both ventricles. Most cases are believed to be
sporadic, although familial forms have been detected. The familial form has been estimated
to have a relative frequency of about 25%. Since, except for familial history, familial
form has no other characteristics that could help in classifying the two diseases, the estimate
of the frequency of the familial form should take into account a possible misclassi® cation
error. In our study, 100 cases were randomly selected in a prospective series of 350 patients.
Out of them, 28 index cases were included in the analysis: 12 were known to be familial,
and 88 were believed to be sporadic. After extensive clinical examination of the relatives,
3 patients supposed to have a sporadic form were found to have a familial form. 13 cases
had a con® rmed sporadic disease. Models in the Log-Linear Product class (LLP) have
been used to separate classi® cation errors from underlying patterns of disease incidence.
The most conservative crude estimate of the misclassi® cation error is 16.1% (CI 0.22±
23.27%), which leads to a crude estimate of the frequency of the familiar form of about
60%. An estimate of the disease frequency, adjusted for taking into consideration the
sampling plan, is 40.93% (CI 32.29± 44.17%). The results are consistent with the
hypothesis that genetic factors are still underestimated, although they represent a major
cause of the disease
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
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