Archivos de cardiología de México
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Review Case Reports
[Genetic and molecular basis for sodium channel-mediated Brugada syndrome].
Brugada syndrome is a genetic disease that is characterized by abnormal electrocardiogram findings and an increased risk of sudden cardiac death. This syndrome is linked to mutations in the SCN5A gene in approximately 20% of Brugada syndrome probands. ⋯ Transmission of the disease shows an autosomal dominant inheritance pattern. This brief review focuses on a reported case of sodium channel-mediated Brugada syndrome, guiding the reader through the process of identification of the genetic variants responsible for the clinically-diagnosed syndrome, mutagenesis to clone SCN5A with and without the 2 variants identified and transfection of the 2 variants into TSA201 cells to determine the functional consequence of these genetic variants on sodium channel expression and function.
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Disclosure of potential conflicts of interest is used by biomedical journals to guarantee credibility and transparency of the scientific process. Conflict of interest disclosure, however, is not systematically nor consistently dealt with by journals. ⋯ This paper provides a comprehensive editorial perspective on classical conflict of interest-related issues. New insights into current conflicts of interest policies and practices among European Society of Cardiology national cardiovascular journals, as derived from a cross-sectional survey using a standardized questionnaire, are discussed.