Výsledky vyhledávání - "Paloma, Jordà"

Akademický článek

Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation

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

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Akademický článek

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes

Autor: Oscar Campuzano, Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Mónica Coll, Anna Iglesias, Carles Ferrer-Costa, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Rocío Toro, Coloma Tiron de Llano, Simone Grassi, Antonio Oliva, Josep Brugada, Ramon Brugada

Publikováno v: EBioMedicine, Vol 54, Iss , Pp - (2020)

ABSTRACT: Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification. We aim to perform an exhaustive re

Externí odkaz: https://doaj.org/article/0601828445ac458586eabbefcbeaf019

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Akademický článek

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies

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

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Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator

Publikováno v: EUROPEAN HEART JOURNAL
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Jordà, P, Bosman, L P, Gasperetti, A, Mazzanti, A, Gourraud, J B, Davies, B, Frederiksen, T C, Weidmann, Z M, Di Marco, A, Roberts, J D, MacIntyre, C, Seifer, C, Delinière, A, Alqarawi, W, Kukavica, D, Minois, D, Trancuccio, A, Arnaud, M, Targetti, M, Martino, A, Oliviero, G, Pipilas, D C, Carbucicchio, C, Compagnucci, P, Dello Russo, A, Olivotto, I, Calò, L, Lubitz, S A, Cutler, M J, Chevalier, P, Arbelo, E, Priori, S G, Healey, J S, Calkins, H, Casella, M, Jensen, H K, Tondo, C, Tadros, R, James, C A, Krahn, A D & Cadrin-Tourigny, J 2022, ' Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy : external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator ', European Heart Journal, vol. 43, no. 32, pp. 3041-3052 . https://doi.org/10.1093/eurheartj/ehac289

Arrhythmogenic right ventricular cardiomyopathy (ARVC) causes ventricular arrhythmias (VAs) and sudden cardiac death (SCD). In 2019, a risk prediction model that estimates the 5-year risk of incident VAs in ARVC was developed (ARVCrisk.com). This stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41adc8f0d33efa0af60eacfa438dc3b5
https://doi.org/10.1093/eurheartj/ehac289

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Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

Autor: Andrew Harper, Elizabeth Ormondroyd, Paloma Jordà

Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality with both monogenic and polygenic components. We here report results from the largest HCM genome-wide association study (GWAS) and multi-trait analysis (MTAG) includin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b096ea149b4cef3a6f584f75f7ecca4d
https://doi.org/10.1101/2023.01.28.23285147

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β3 adrenergic agonist treatment in chronic pulmonary hypertension associated with heart failure (SPHERE-HF): a double blind, placebo-controlled, randomized clinical trial

Publikováno v: European journal of heart failureReferences.

Pulmonary hypertension (PH) associated with left heart disease is an increasingly prevalent problem, orphan of targeted therapies, and related to a poor prognosis, particularly when pre- and post-capillary PH combine. The current study aimed to deter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a77ae853bc8135a522bf769444928a9
https://pubmed.ncbi.nlm.nih.gov/36404400

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Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy

Autor: Ruxandra Jurcut, Andrea Ros, Luisa Politano, Juan Jiménez-Jáimez, Pablo García-Pavía, Ali Yilmaz, Job A J Verdonschot, Alberto Palladino, María I. García-Álvarez, Luis Ruiz-Guerrero, Karim Wahbi, Ana García-Álvarez, Luis R. Lopes, Michael Arad, Maria Teresa Basurte Elorz, Jens Mogensen, Roberto Barriales-Villa, Paloma Jordà, José M. Larrañaga-Moreira, Francisco Bermúdez-Jiménez, Zofia T. Bilińska, Benjamin Meder, Rosa L. E. van Loon, Zornitsa Shomanova, Tanya Stojkovic, Francesca Girolami, Miloš Kubánek, Julián Palomino-Doza, Perry M. Elliott, Torsten Bloch Rasmussen, Dov Freimark, Maria Robledo Iñarritu, María Alejandra Restrepo-Córdoba, Giovanni Quarta, Pascal Laforêt, Anca Florian, Juan Pablo Ochoa, Regina Pribe-Wolferts, Ramon Brugada, Rasmus B Hansen, Vicente Climent-Payá, Fernando Domínguez, José Rodríguez-Palomares

Publikováno v: European journal of heart failure, 23(8), 1276-1286. Wiley
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
Restrepo-Cordoba, M A, Wahbi, K, Florian, A R, Jiménez-Jáimez, J, Politano, L, Arad, M, Climent-Paya, V, Garcia-Alvarez, A, Hansen, R B, Larrañaga-Moreira, J M, Kubanek, M, Lopes, L R, Ros, A, Jurcut, R, Rasmussen, T B, Ruiz-Guerrero, L, Pribe-Wolferts, R, Palomino-Doza, J, Bilinska, Z, Rodríguez-Palomares, J F, Van Loon, R L E, Basurte Elorz, M T, Quarta, G, Robledo Iñarritu, M, Verdonschot, J A J, Stojkovic, T, Shomanova, Z, Bermudez-Jimenez, F, Palladino, A, Freimark, D, García-Álvarez, M I, Jorda, P, Dominguez, F, Ochoa, J P, Girolami, F, Brugada, R, Meder, B, Barriales-Villa, R, Mogensen, J, Laforêt, P, Yilmaz, A, Elliott, P, Garcia-Pavia, P & for the European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1) 2021, ' Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy ', European Journal of Heart Failure, vol. 23, no. 8, pp. 1276-1286 . https://doi.org/10.1002/ejhf.2250

Aims: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1780331ac79e5fb7857261abd885ef77
https://doi.org/10.1002/ejhf.2250

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