Results 1 to 10 of about 270,462 (172)

Non Coding RNAs as Regulators of Wnt/β-Catenin and Hippo Pathways in Arrhythmogenic Cardiomyopathy

Biomedicines, 2022
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy histologically characterized by the replacement of myocardium by fibrofatty infiltration, cardiomyocyte loss, and inflammation.
Marina Piquer-Gil, Sofía Domenech-Dauder, Marta Sepúlveda-Gómez, Carla Machí-Camacho, Aitana Braza-Boïls, Esther Zorio   +5 more
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Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age

Advanced Genetics, 2023
In sudden unexplained death in pediatrics (SUDP) the cause of death is unknown despite an autopsy and investigation. The role of copy number variations (CNVs) in SUDP has not been well‐studied. Chromosomal microarray (CMA) data are generated for 116 SUDP
Catherine A. Brownstein, Elise Douard, Robin L. Haynes, Hyun Yong Koh, Alireza Haghighi, Christine Keywan, Bree Martin, Sanda Alexandrescu, Elisabeth A. Haas, Sara O. Vargas, Monica H. Wojcik, Sébastien Jacquemont, Annapurna H. Poduri, Richard D. Goldstein, Ingrid A. Holm   +14 more
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Pediatric Left Posteroseptal Accessory Pathway Ablation from Giant Coronary Sinus with Persistent Left Superior Cava

Journal of Cardiovascular Development and Disease, 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 to ...
José Cruzalegui, Sergi Cesar, Oscar Campuzano, Victoria Fiol, Josep Brugada, Georgia Sarquella-Brugada   +5 more
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Sex differences in long QT syndrome

Frontiers in Cardiovascular Medicine, 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 even ...
Nuria Díez-Escuté, Elena Arbelo, Elena Arbelo, Elena Arbelo, Elena Arbelo, Estefanía Martínez-Barrios, Patricia Cerralbo, Sergi Cesar, José Cruzalegui, Freddy Chipa, Victoria Fiol, Irene Zschaeck, Clara Hernández, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada   +18 more
doaj   +1 more source

Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden

Orphanet Journal of Rare Diseases, 2021
Background Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation.
Juan González-Moreno, Aina Gaya-Barroso, Inés Losada-López, Adrián Rodríguez, Teresa Bosch-Rovira, Tomás Ripoll-Vera, Mercedes Usón, Antoni Figuerola, Cristina Descals, Carles Montalà, María Asunción Ferrer-Nadal, Eugenia Cisneros-Barroso   +11 more
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Brugada Syndrome in Women: What Do We Know After 30 Years?

Frontiers in Cardiovascular Medicine, 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).
Estefanía Martínez-Barrios, Elena Arbelo, Elena Arbelo, Elena Arbelo, Sergi Cesar, José Cruzalegui, Victoria Fiol, Nuria Díez-Escuté, Clara Hernández, Ramon Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada   +21 more
doaj   +1 more source

Automated Analysis of Risk Factors for Postictal Generalized EEG Suppression

Frontiers in Neurology, 2021
Rationale: Currently, there is some ambiguity over the role of postictal generalized electro-encephalographic suppression (PGES) as a biomarker in sudden unexpected death in epilepsy (SUDEP).
Xiuhe Zhao, Laura Vilella, Laura Vilella, Liang Zhu, M. R. Sandhya Rani, M. R. Sandhya Rani, Johnson P. Hampson, Johnson P. Hampson, Jaison Hampson, Jaison Hampson, Norma J. Hupp, Norma J. Hupp, Rup K. Sainju, Rup K. Sainju, Daniel Friedman, Daniel Friedman, Maromi Nei, Maromi Nei, Catherine Scott, Catherine Scott, Luke Allen, Luke Allen, Brian K. Gehlbach, Brian K. Gehlbach, Stephan Schuele, Stephan Schuele, Ronald M. Harper, Ronald M. Harper, Beate Diehl, Beate Diehl, Lisa M. Bateman, Lisa M. Bateman, Orrin Devinsky, Orrin Devinsky, George B. Richerson, George B. Richerson, Guo-Qiang Zhang, Guo-Qiang Zhang, Samden D. Lhatoo, Samden D. Lhatoo, Nuria Lacuey, Nuria Lacuey   +41 more
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Seizure Clusters, Seizure Severity Markers, and SUDEP Risk

Frontiers in Neurology, 2021
Rationale: Seizure clusters may be related to Sudden Unexpected Death in Epilepsy (SUDEP). Two or more generalized convulsive seizures (GCS) were captured during video electroencephalography in 7/11 (64%) patients with monitored SUDEP in the MORTEMUS ...
Manuela Ochoa-Urrea, Manuela Ochoa-Urrea, Nuria Lacuey, Nuria Lacuey, Laura Vilella, Laura Vilella, Liang Zhu, Shirin Jamal-Omidi, Shirin Jamal-Omidi, M. R. Sandhya Rani, M. R. Sandhya Rani, Johnson P. Hampson, Johnson P. Hampson, Mojtaba Dayyani, Mojtaba Dayyani, Jaison Hampson, Jaison Hampson, Norma J. Hupp, Norma J. Hupp, Shiqiang Tao, Shiqiang Tao, Rup K. Sainju, Rup K. Sainju, Daniel Friedman, Daniel Friedman, Maromi Nei, Maromi Nei, Catherine Scott, Catherine Scott, Luke Allen, Luke Allen, Brian K. Gehlbach, Brian K. Gehlbach, Victoria Reick-Mitrisin, Stephan Schuele, Stephan Schuele, Jennifer Ogren, Jennifer Ogren, Ronald M. Harper, Ronald M. Harper, Beate Diehl, Beate Diehl, Lisa M. Bateman, Lisa M. Bateman, Orrin Devinsky, Orrin Devinsky, George B. Richerson, George B. Richerson, Guo-Qiang Zhang, Guo-Qiang Zhang, Samden D. Lhatoo, Samden D. Lhatoo   +51 more
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Inherited Arrhythmogenic Syndromes

Cardiogenetics, 2023
Inherited arrhythmogenic syndromes (IASs) are a heterogeneous group of rare cardiac entities of genetic origin [...]
Georgia Sarquella-Brugada, Oscar Campuzano   +1 more
doaj   +1 more source

The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths

Frontiers in Medicine, 2023
A definitive, authoritative approach to evaluate the causes of unexpected, and ultimately unexplained, pediatric deaths remains elusive, relegating final conclusions to diagnoses of exclusion in the vast majority of cases.
Monica H. Wojcik, Monica H. Wojcik, Monica H. Wojcik, Monica H. Wojcik, Annapurna H. Poduri, Annapurna H. Poduri, Annapurna H. Poduri, Annapurna H. Poduri, Ingrid A. Holm, Ingrid A. Holm, Ingrid A. Holm, Calum A. MacRae, Calum A. MacRae, Richard D. Goldstein, Richard D. Goldstein, Richard D. Goldstein   +15 more
doaj   +1 more source