Search Results - "Brugada, Georgia Sarquella"

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances by Fernández-Falgueras, Anna, Sarquella-Brugada, Georgia, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar

“…Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart…”
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Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy by Camiña‐Conforto, Gemma, Ivars, Marta, Sarquella‐Brugada, Georgia, Valera‐Dávila, Carlos, Salvador, Héctor, Rovira, Carlota, Baselga, Eulalia

“…Phacomatosis pigmentokeratotica (PPK) is a RASopathy characterized by the presence of a sebaceous nevus and a papular speckled lentiginous nevus. This case…”
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Genetic interpretation and clinical translation of minor genes related to Brugada syndrome by Campuzano, Oscar, Sarquella‐Brugada, Georgia, Fernandez‐Falgueras, Anna, Cesar, Sergi, Coll, Monica, Mates, Jesus, Arbelo, Elena, Perez‐Serra, Alexandra, del Olmo, Bernat, Jordá, Paloma, Fiol, Victoria, Iglesias, Anna, Puigmulé, Marta, Lopez, Laura, Pico, Ferran, Brugada, Josep, Brugada, Ramon

“…Brugada syndrome (BrS) is an inherited arrhythmogenic disease associated with sudden cardiac death. The main gene is SCN5A. Additional variants in 42 other…”
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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation by Sanchez, Olallo, Campuzano, Oscar, Fernández-Falgueras, Anna, Sarquella-Brugada, Georgia, Cesar, Sergi, Mademont, Irene, Mates, Jesus, Pérez-Serra, Alexandra, Coll, Monica, Pico, Ferran, Iglesias, Anna, Tirón, Coloma, Allegue, Catarina, Carro, Esther, Gallego, María Ángeles, Ferrer-Costa, Carles, Hospital, Anna, Bardalet, Narcís, Borondo, Juan Carlos, Vingut, Albert, Arbelo, Elena, Brugada, Josep, Castellà, Josep, Medallo, Jordi, Brugada, Ramon

“…Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an…”
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Large Genomic Imbalances in Brugada Syndrome by Mademont-Soler, Irene, Pinsach-Abuin, Mel Lina, Riuró, Helena, Mates, Jesus, Pérez-Serra, Alexandra, Coll, Mònica, Porres, José Manuel, Del Olmo, Bernat, Iglesias, Anna, Selga, Elisabet, Picó, Ferran, Pagans, Sara, Ferrer-Costa, Carles, Sarquella-Brugada, Geòrgia, Arbelo, Elena, Cesar, Sergi, Brugada, Josep, Campuzano, Óscar, Brugada, Ramon

“…Brugada syndrome (BrS) is a form of cardiac arrhythmia which may lead to sudden cardiac death. The recommended genetic testing (direct sequencing of SCN5A)…”
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Clinical Features and Outcomes of Pediatric MYH7 ‐Related Dilated Cardiomyopathy by de Frutos, Fernando, Ochoa, Juan Pablo, Webster, Gregory, Jansen, Mark, Remior, Paloma, Rasmussen, Torsten B., Sabater‐Molina, Maria, Barriales‐Villa, Roberto, Girolami, Francesca, Cesar, Sergi, Fuentes‐Cañamero, M. Eugenia, Alvarez García‐Rovés, Reyes, Wahbi, Karim, Limeres, Javier, Kubanek, Milos, Slieker, Martijn G., Sarquella‐Brugada, Georgia, Abrams, Dominic J., Dooijes, Dennis, Domínguez, Fernando, Garcia‐Pavia, Pablo

“…Background Although genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available…”
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Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology by Campuzano, Oscar, Sarquella-Brugada, Georgia, Mademont-Soler, Irene, Allegue, Catarina, Cesar, Sergi, Ferrer-Costa, Carles, Coll, Monica, Mates, Jesus, Iglesias, Anna, Brugada, Josep, Brugada, Ramon

“…Long QT Syndrome is an inherited channelopathy leading to sudden cardiac death due to ventricular arrhythmias. Despite that several genes have been associated…”
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Post-mortem genetic analysis in juvenile cases of sudden cardiac death by Campuzano, Oscar, Sanchez-Molero, Olallo, Allegue, Catarina, Coll, Monica, Mademont-Soler, Irene, Selga, Elisabet, Ferrer-Costa, Carles, Mates, Jesus, Iglesias, Anna, Sarquella-Brugada, Georgia, Cesar, Sergi, Brugada, Josep, Castellà, Josep, Medallo, Jordi, Brugada, Ramon

“…Highlights • Molecular autopsy should be implemented in forensic protocols. • Nearly 40% of sudden death young cases carry a cardiac potentially pathogenic…”
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Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort by Selga, Elisabet, Campuzano, Oscar, Pinsach-Abuin, Mel Lina, Pérez-Serra, Alexandra, Mademont-Soler, Irene, Riuró, Helena, Picó, Ferran, Coll, Mònica, Iglesias, Anna, Pagans, Sara, Sarquella-Brugada, Georgia, Berne, Paola, Benito, Begoña, Brugada, Josep, Porres, José M, López Zea, Matilde, Castro-Urda, Víctor, Fernández-Lozano, Ignacio, Brugada, Ramon

“…Brugada syndrome (BrS) is a rare genetic cardiac arrhythmia that can lead to sudden cardiac death in patients with a structurally normal heart. Genetic…”
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Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy by Alcalde, Mireia, Campuzano, Oscar, Berne, Paola, García-Pavía, Pablo, Doltra, Ada, Arbelo, Elena, Sarquella-Brugada, Georgia, Iglesias, Anna, Alonso-Pulpon, Luis, Brugada, Josep, Brugada, Ramon

“…Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiac disease characterized by the presence of fibrofatty replacement of the right ventricular…”
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Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic? by Campuzano, Oscar, Sarquella-Brugada, Georgia, Cesar, Sergi, Arbelo, Elena, Brugada, Josep, Brugada, Ramon

“…Brugada syndrome is a rare inherited arrhythmogenic disease leading to ventricular fibrillation and high risk of sudden death. In 1998, this syndrome was…”
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Inherited Arrhythmogenic Syndromes by Sarquella-Brugada, Georgia, Campuzano, Oscar

“…Inherited arrhythmogenic syndromes (IASs) are a heterogeneous group of rare cardiac entities of genetic origin [...]…”
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Molecular autopsy in sudden cardiac death by Campuzano, Oscar, Sarquella-Brugada, Georgia

“…A post-mortem genetic analysis in the process of investigating a sudden death episode is known as 'molecular autopsy'. It is usually performed in cases without…”
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Pharmacological and non-pharmacological therapy for arrhythmias in the pediatric population: EHRA and AEPC-Arrhythmia Working Group joint consensus statement by Brugada, Josep, Blom, Nico, Sarquella-Brugada, Georgia, Blomstrom-Lundqvist, Carina, Deanfield, John, Janousek, Jan, Abrams, Dominic, Bauersfeld, Urs, Brugada, Ramon, Drago, Fabrizio, de Groot, Natasja, Happonen, Juha-Matti, Hebe, Joachim, Yen Ho, Siew, Marijon, Eloi, Paul, Thomas, Pfammatter, Jean-Pierre, Rosenthal, Eric

“…In children with structurally normal hearts, the mechanisms of arrhythmias are usually the same as in the adult patient. Some arrhythmias are particularly…”
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Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1 by Mazzanti, Andrea, Guz, Dmitri, Trancuccio, Alessandro, Pagan, Eleonora, Kukavica, Deni, Chargeishvili, Tekla, Olivetti, Natalia, Biernacka, Elżbieta Katarzyna, Sacilotto, Luciana, Sarquella-Brugada, Georgia, Campuzano, Oscar, Nof, Eyal, Anastasakis, Aristides, Sansone, Valeria A., Jimenez-Jaimez, Juan, Cruz, Fernando, Sánchez-Quiñones, Jessica, Hernandez-Afonso, Julio, Fuentes, Maria Eugenia, Średniawa, Beata, Garoufi, Anastasia, Andršová, Irena, Izquierdo, Maite, Marinov, Rumen, Danon, Asaf, Expósito-García, Victor, Garcia-Fernandez, Amaya, Muñoz-Esparza, Carmen, Ortíz, Martín, Zienciuk-Krajka, Agnieszka, Tavazzani, Elisa, Monteforte, Nicola, Bloise, Raffaella, Marino, Maira, Memmi, Mirella, Napolitano, Carlo, Zorio, Esther, Monserrat, Lorenzo, Bagnardi, Vincenzo, Priori, Silvia G.

“…Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest…”
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miR-16-5p Suppression Protects Human Cardiomyocytes against Endoplasmic Reticulum and Oxidative Stress-Induced Injury by Toro, Rocío, Pérez-Serra, Alexandra, Mangas, Alipio, Campuzano, Oscar, Sarquella-Brugada, Georgia, Quezada-Feijoo, Maribel, Ramos, Mónica, Alcalá, Martin, Carrera, Esther, García-Padilla, Carlos, Franco, Diego, Bonet, Fernando

“…Oxidative stress, defined as the excess production of reactive oxygen species (ROS) relative to antioxidant defense, plays a significant role in the…”
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Update on the Diagnostic Pitfalls of Autopsy and Post-Mortem Genetic Testing in Cardiomyopathies by Grassi, Simone, Campuzano, Oscar, Coll, Mònica, Cazzato, Francesca, Sarquella-Brugada, Georgia, Rossi, Riccardo, Arena, Vincenzo, Brugada, Josep, Brugada, Ramon, Oliva, Antonio

“…Inherited cardiomyopathies are frequent causes of sudden cardiac death (SCD), especially in young patients. Despite at the autopsy they usually have…”
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The Role of MicroRNAs in Dilated Cardiomyopathy: New Insights for an Old Entity by Alonso-Villa, Elena, Bonet, Fernando, Hernandez-Torres, Francisco, Campuzano, Óscar, Sarquella-Brugada, Georgia, Quezada-Feijoo, Maribel, Ramos, Mónica, Mangas, Alipio, Toro, Rocío

“…Dilated cardiomyopathy (DCM) is a clinical diagnosis characterized by left ventricular or biventricular dilation and systolic dysfunction. In most cases, DCM…”
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Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins by Martínez Olorón, Patricia, Alegría, Iosune, Cesar, Sergi, Del Olmo, Bernat, Martínez-Barrios, Estefanía, Carrera-García, Laura, Natera-de Benito, Daniel, Nascimento, Andrés, Campuzano, Oscar, Sarquella-Brugada, Georgia

“…Pathogenic variants in have been associated with a wide spectrum of muscular conditions: the laminopathies. -related congenital muscular dystrophy is a…”
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Recent Advances in Short QT Syndrome by Campuzano, Oscar, Sarquella-Brugada, Georgia, Cesar, Sergi, Arbelo, Elena, Brugada, Josep, Brugada, Ramon

“…Short QT syndrome is a highly malignant inherited cardiac disease characterized by ventricular tachyarrhythmias leading to syncope and sudden cardiac death. It…”
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