1,721,030 research outputs found
Clinical spectrum of patients with a Brugada ECG.
Full text linkPURPOSE OF REVIEW:
The Brugada syndrome continues to spark intensive investigation since its earliest description. New insight has been gained regarding the genetic, histopathologic, and metabolic mechanisms of this heritable channelopathy - a heterogeneity that is reflected in the diverse clinical presentation. In this review, we will focus on clinical spectrum of patients with a Brugada ECG pattern with a special focus on diagnosis and risk stratification.
RECENT FINDINGS:
In the past year, multiple case reports have demonstrated that the Brugada ECG pattern is not limited to those with the diagnosed syndrome, with increasing evidence that an 'overlap' exists among inherited channelopathies, especially those involving the sodium and calcium channels.
SUMMARY:
The clinical spectrum of patients with a Brugada ECG remains broad, reflecting the heterogeneity of the underlying pathophysiology. As the true prevalence of the disease unfolds, knowledge regarding the clinical spectrum of patients with a Brugada ECG is important to implement effective risk stratification and management. It may be proposed that the ECG pattern of ST-segment elevation in the right precordial leads should not be seen as a marker of a specific syndrome, but rather as a common electrical expression of structural abnormalities in the right ventricle that may have genetic, infective, or inflammatory origins
The genetics of cardiomyopathy: genotyping and genetic counseling.
No full textThree decades of ongoing research into the identification of genes responsible for both cardiomyopathies and ion channel diseases has facilitated a progressive understanding of the pathophysiology of inherited arrhythmogenic diseases. Recent discoveries in the area of genetics promise to significantly change the current clinical practice of cardiology, as rapid advances in technology and a coincident reduction of costs associated with sequencing have pushed the "translation" of genomic information from bench to bedside. In turn, clinicians have at their disposal new tools for more accurate diagnosis of diseases, as well as for better calculation of health risks for affected families. It is clear, however, that the integration of genetic analysis into frontline clinical cardiology has not yet occurred, especially for heritable cardiomyopathic processes; no one simplified method exists for diagnosing these complex cardiac disease states. It therefore is important to assess the present and future roles of genetic analysis and counseling in clinical practice and how to assist the transition of genetic screening into current care to ensure the appropriate practical use of genetic tests in the routine clinical setting. The purpose of this discussion is to provide a concise review of recent developments in the field of heritable cardiomyopathies, with specific regard to genetic testing and genetic counseling
When is genetic testing useful in patients suspected to have inherited cardiac arrhythmias?
Full text linkPURPOSE OF REVIEW:
In this article, we will review the appropriate use of genetic testing in those patients suspected to have inherited arrhythmogenic diseases, with specific focus on the indications for testing and the expected probability of positive genotyping.
RECENT FINDINGS:
Important advances have been made in the identification of new genes, associated mutations, and polymorphisms that modulate susceptibility of acquired arrhythmias. We will examine the most recent advances relevant to the rational application of genetic analysis, guided by genotype-phenotype correlations derived from disease and patient-specific evaluation, as well as discussing novel technologies and recently published cost-effectiveness data.
SUMMARY:
Genetic analysis can be performed to identify the molecular substrate in those patients suspected to be affected by an inherited arrhythmogenic disease; however, the clinical usefulness of this information is often not straightforward. We hope to emphasize the concept that there is a significant difference in the impact of genetic testing within the various arrhythmogenic disorders, and the benefit of accessing genetic testing is not the same in all patients. The resultant integration between the expected yield of genetic screening and cost may allow the formation of criteria to prioritize access for those who could derive the most clinical benefit
Genetic testing for inherited cardiac arrhythmias
Full text linkIn this
article we will review the appropriate use of
genetic testing in those patients suspected
of having IADs, with specific focus on the
indications for testing and the expected
probability of positive genotyping
Implantable Loop Recorder in Inherited Arrhythmia Diseases: A Critical Tool for Symptom Diagnosis and Advanced Risk Stratification
No full textThe differential diagnosis between benign syncope common in a young population and life-threatening arrhythmic ones represents a major challenge in the management of patients with inherited arrhythmias (IAs) (1). In this population, ventricular arrhythmias can often be hemodynamically tolerated, adding to the complexity of the event’s adjudication (1). The probability of documenting the rhythm underlying a fainting event or a silent arrhythmia with periodic external recordings is low and inadequate to the need of long-term, real-life longitudinal monitoring. Implantable loop recorders (ILRs) have a recognized value for the evaluation of syncope and palpitations (2), but data on their role for IA are scarce. Furthermore, the advent of injectable devices increased their tolerability and acceptance, making them suitable also for children. Here, we provide retrospective data on the largest group of IA patients implanted with ILRs from a single tertiary center. Data are descriptive and expressed as percentage, median, and interquartile range (IQR)
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
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