Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

Autor: Georgia Sarquella-Brugada, Oscar García-Algar, María Dolores Zambrano, Anna Fernández-Falgueres, Sebastian Sailer, Sergi Cesar, Giorgia Sebastiani, Julio Martí-Almor, Esther Aurensanz, Jose Carlos Cruzalegui, Erika Fernanda Merchan, Mónica Coll, Alexandra Pérez-Serra, Bernat del Olmo, Victoria Fiol, Anna Iglesias, Carles Ferrer-Costa, Marta Puigmulé, Laura Lopez, Ferran Pico, Elena Arbelo, Paloma Jordà, Josep Brugada, Ramon Brugada, Oscar Campuzano

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

Introduction: Long QT syndrome is the main arrhythmogenic disease responsible for sudden death in infants, especially in the first days of life. Performing an electrocardiogram in newborns could enable early diagnosis and adoption of therapeutic meas

Externí odkaz: https://doaj.org/article/63da0e5c5568477e94cc67f8aa6d8707

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort

Autor: Estefanía Martinez-Barrios, Georgia Sarquella-Brugada, Alexandra Perez-Serra, Anna Fernandez-Falgueras, Sergi Cesar, Mireia Alcalde, Mónica Coll, Marta Puigmulé, Anna Iglesias, Carles Ferrer-Costa, Bernat del Olmo, Ferran Picó, Laura Lopez, Victoria Fiol, José Cruzalegui, Clara Hernandez, Elena Arbelo, Nuria Díez-Escuté, Patricia Cerralbo, Simone Grassi, Antonio Oliva, Rocío Toro, Josep Brugada, Ramon Brugada, Oscar Campuzano

Publikováno v: International Journal of Legal Medicine. 137:345-351

Sudden death cases in the young population remain without a conclusive cause of decease in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Molecular autopsy may reveal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::17eeef65ef3b1beda2e4f99a783bb000
https://doi.org/10.1007/s00414-023-02951-0

Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review

Autor: Antonio Oliva, Simone Grassi, Vilma Pinchi, Francesca Cazzato, Mónica Coll, Mireia Alcalde, Marta Vallverdú-Prats, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Sergi Cesar, Anna Iglesias, José Cruzalegui, Clara Hernández, Victoria Fiol, Elena Arbelo, Nuria Díez-Escuté, Vincenzo Arena, Josep Brugada, Georgia Sarquella-Brugada, Ramon Brugada, Oscar Campuzano

Publikováno v: Journal of Clinical Medicine, 2022, vol. 11, núm. 15, p. 4406
Articles publicats (IdIBGi)
Oliva, Antonio Grassi, Simone Pinchi, Vilma Cazzato, Francesca Coll Vidal, Mònica Alcalde Masegu, Mireia Vallverdú-Prats, Marta Perez-Serra, Alexandra Martínez-Barrios, Estefanía Cesar, Sergi Iglesias, Anna Cruzalegui, Jose Carlos Hernández Cera, Clara Fiol, Victoria Arbelo, Elena Díez-Escuté, Nuria Arena, Vincenzo Brugada, Josep Sarquella Brugada, Geòrgia Brugada, Ramon Campuzano Larrea, Oscar 2022 Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review Journal of Clinical Medicine 11 15 4406
DUGiDocs – Universitat de Girona
instname

Brugada syndrome (BrS) is classified as an inherited cardiac channelopathy attributed to dysfunctional ion channels and/or associated proteins in cardiomyocytes rather than to structural heart alterations. However, hearts of some BrS patients exhibit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d765b23a2d26d3c0fc1c54111c24e4
https://pubmed.ncbi.nlm.nih.gov/35956023

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

Autor: Estefanía Martínez-Barrios, Georgia Sarquella-Brugada, Alexandra Pérez-Serra, Anna Fernández-Falgueras, Sergi Cesar, Mónica Coll, Marta Puigmulé, Anna Iglesias, Mireia Alcalde, Marta Vallverdú-Prats, Carles Ferrer-Costa, Bernat del Olmo, Ferran Picó, Laura López, Victoria Fiol, José Cruzalegui, Clara Hernández, Elena Arbelo, Simone Grassi, Antonio Oliva, Rocío Toro, Josep Brugada, Ramon Brugada, Oscar Campuzano

Publikováno v: Journal of Personalized Medicine; Volume 12; Issue 2; Pages: 241
Journal of Personalized Medicine, 2022, vol. 12, núm. 2, p. 241
Articles publicats (D-CM)
DUGiDocs – Universitat de Girona
instname

The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense variants represent a diagnostic challenge for clinical genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87bae75c8344bcbea50b342de0700f59
http://hdl.handle.net/10807/200899

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