Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Victoria Fiol"'
Autor:
Nuria Díez-Escuté, Elena Arbelo, Estefanía Martínez-Barrios, Patricia Cerralbo, Sergi Cesar, José Cruzalegui, Freddy Chipa, Victoria Fiol, Irene Zschaeck, Clara Hernández, Oscar Campuzano, Georgia Sarquella-Brugada
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
Long QT Syndrome (LQTS) is a rare, inherited channelopathy characterized by cardiac repolarization dysfunction, leading to a prolonged rate-corrected QT interval in patients who are at risk for malignant ventricular tachyarrhythmias, syncope, and eve
Externí odkaz:
https://doaj.org/article/7524962dc80d40fa8800fb7b09ba1199
Autor:
Sergi Cesar, Monica Coll, Victoria Fiol, Anna Fernandez-Falgueras, Jose Cruzalegui, Anna Iglesias, Isaac Moll, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Carles Ferrer-Costa, Bernat del Olmo, Marta Puigmulè, Mireia Alcalde, Laura Lopez, Ferran Pico, Rubén Berrueco, Josep Brugada, Irene Zschaeck, Daniel Natera-de Benito, Laura Carrera-García, Jessica Exposito-Escudero, Carlos Ortez, Andrés Nascimento, Ramon Brugada, Georgia Sarquella-Brugada, Oscar Campuzano
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenot
Externí odkaz:
https://doaj.org/article/2e963c1eaf3740048e1406c93f7e7001
Autor:
Estefanía Martínez-Barrios, Elena Arbelo, Sergi Cesar, José Cruzalegui, Victoria Fiol, Nuria Díez-Escuté, Clara Hernández, Ramon Brugada, Josep Brugada, Oscar Campuzano, Georgia Sarquella-Brugada
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
Brugada syndrome (BrS) was initially described in 1992 by Josep and Pedro Brugada as an arrhythmogenic disease characterized by ST segment elevation in the right precordial leads and increased risk of sudden cardiac death (SCD). Alterations in the SC
Externí odkaz:
https://doaj.org/article/3bbe5daf189d4844a571c2a41cced83d
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
Autor:
Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Sergi Cesar, Elena Arbelo, Paloma Jordà, Ana García-Álvarez, Jose Carlos Cruzalegui, Erika Fernanda Merchan, Victoria Fiol, Josep Brugada, Ramon Brugada, Oscar Campuzano
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2021)
Aim: To perform a comprehensive phenotype-genotype correlation of all rare variants in Triadin leading to malignant arrhythmias in pediatrics.Methods: Triadin knockout syndrome is a rare entity reported in pediatric population. This syndrome is cause
Externí odkaz:
https://doaj.org/article/666d444904704b888b1bb250ffd73c41
Autor:
José Cruzalegui, Sergi Cesar, Oscar Campuzano, Victoria Fiol, Josep Brugada, Georgia Sarquella-Brugada
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 9, Iss 4, p 109 (2022)
We report a pediatric patient with persistent left superior vena cava and a D-transposition of great arteries, which is an uncommon relation. It is crucial to know the anatomy of the persistent left superior vena cava and the dilated coronary sinus t
Externí odkaz:
https://doaj.org/article/50888a2be5234f1193f949e859389401
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
https://doi.org/10.1007/s00414-023-02951-0
Autor:
Estefanía Martínez-Barrios, Sergi Cesar, José Cruzalegui, Clara Hernandez, Elena Arbelo, Victoria Fiol, Josep Brugada, Ramon Brugada, Oscar Campuzano, Georgia Sarquella-Brugada
Publikováno v:
Biomedicines, Vol 10, Iss 1, p 106 (2022)
Sudden death is a rare event in the pediatric population but with a social shock due to its presentation as the first symptom in previously healthy children. Comprehensive autopsy in pediatric cases identify an inconclusive cause in 40–50% of cases
Externí odkaz:
https://doaj.org/article/b8ac06423f394c39887e4909be9485ce
Autor:
Oscar Campuzano, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Monica Coll, Victoria Fiol, Anna Iglesias, Alexandra Perez-Serra, Jesus Mates, Bernat del Olmo, Carles Ferrer, Mireia Alcalde, Marta Puigmulé, Irene Mademont-Soler, Ferran Pico, Laura Lopez, Coloma Tiron, Josep Brugada, Ramon Brugada
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Cardiomyopathies are a heterogeneous group of inherited cardiac diseases characterized by progressive myocardium abnormalities associated with mechanical and/or electrical dysfunction. Massive genetic sequencing technologies allow a comprehensive gen
Externí odkaz:
https://doaj.org/article/c52142240d0240338c8956657072679f
Autor:
Estefanía Martínez-Barrios, José Cruzalegui, Sergi Cesar, Fredy Chipa, Elena Arbelo, Victoria Fiol, Josep Brugada, Georgia Sarquella-Brugada, Oscar Campuzano
Short QT syndrome (SQTS) is an extremely rare inherited arrhythmogenic entity. Nowadays, less than 200 families affected worldwide have been reported. This syndrome is characterized by the presence of a short QT interval leading to malignant ventricu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94431c330fec524a24417e1058464277
https://mts.intechopen.com/articles/show/title/short-qt-syndrome-update-on-genetic-basis
https://mts.intechopen.com/articles/show/title/short-qt-syndrome-update-on-genetic-basis
