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1. Characterization of patients with extensive left atrial myopathy referred for atrial fibrillation ablation: incidence, predictors, and outcomes

Author

González-Ferrero, Teba, Bergonti, Marco, Marcon, Lorenzo, Minguito-Carazo, Carlos, Tilves Bellas, Carlos, Pesquera Lorenzo, Juan Carlos, Martínez-Sande, José Luis, González-Melchor, Laila, García-Seara, Francisco Javier, Fernández-López, Jesús Alberto, González-Juanatey, José Ramón, Heidbuchel, Hein, Sarkozy, Andrea, and Rodríguez-Mañero, Moisés

Published
2024
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3. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Author

Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’Donnell-Luria, Anne, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, and Straub, Volker

Published
2024
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4. Posterior wall isolation via a multi-electrode radiofrequency balloon catheter: feasibility, technical considerations, endoscopic findings and comparison with cryoballoon technologies

Author

Del Monte, Alvise, Chierchia, Gian Battista, Della Rocca, Domenico Giovanni, Pannone, Luigi, Sorgente, Antonio, Bala, Gezim, Monaco, Cinzia, Mouram, Sahar, Capulzini Cremonini, Lucio, Audiat, Charles, Praet, Joke, Ramak, Robbert, Overeinder, Ingrid, Ströker, Erwin, Sieira, Juan, La Meir, Mark, Brugada, Pedro, Sarkozy, Andrea, de Asmundis, Carlo, and Almorad, Alexandre

Published
2024
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5. Anticoagulation in Patients With Device‐Detected Atrial Fibrillation With and Without a Prior Stroke or Transient Ischemic Attack: The NOAH‐AFNET 6 Trial

Author

Hans Christoph Diener, Nina Becher, Susanne Sehner, Tobias Toennis, Emanuele Bertaglia, Carina Blomstrom‐Lundqvist, Axel Brandes, Vincent Beuger, Melanie Calvert, A. John Camm, Gregory Chlouverakis, Gheorghe‐Andrei Dan, Wolfgang Dichtl, Alexander Fierenz, Andreas Goette, Joris R. de Groot, Astrid Hermans, Gregory Y. H. Lip, Andrzej Lubinski, Eloi Marijon, Béla Merkely, Lluís Mont, Julius Nikorowitsch, Ann‐Kathrin Ozga, Kim Rajappan, Andrea Sarkozy, Daniel Scherr, Renate B. Schnabel, Ulrich Schotten, Emmanuel Simantirakis, Panos Vardas, Dan Wichterle, Antonia Zapf, and Paulus Kirchhof

Subjects
anticoagulation, atrial fibrillation, CHA2DS2‐VASc score, device‐detected atrial fibrillation, NOAH‐AFNET 6, recurrent stroke, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background Short and rare episodes of atrial fibrillation (AF) are commonly detected using implanted devices (device‐detected AF) in patients with prior stroke or transient ischemic attack (TIA). The effectiveness and safety of oral anticoagulation in patients with prior stroke or TIA and device‐detected AF but with no ECG‐documented AF is unclear. Methods and Results This prespecified analysis of the NOAH‐AFNET 6 (Non‐Vitamin K Antagonist Oral Anticoagulants in Patients With Atrial High Rate Episodes) trial with post hoc elements assessed the effect of oral anticoagulation in patients with device‐detected AF with and without a prior stroke or TIA in the randomized, double‐blind, double‐dummy NOAH‐AFNET 6 trial. Outcomes were stroke, systemic embolism, and cardiovascular death (primary outcome) and major bleeding and death (safety outcome). A prior stroke or TIA was found in 253 patients with device‐detected AF randomized in the NOAH‐AFNET 6 (mean age, 78 years; 36.4% women). There was no treatment interaction with prior stroke or TIA for any of the primary and secondary time‐to‐event outcomes. In patients with a prior stroke or TIA, 14 out of 122 patients experienced a primary outcome event with anticoagulation (5.7% per patient‐year). Without anticoagulation, there were 16 out of 131 patients with an event (6.3% per patient‐year). The rate of stroke was lower than expected (anticoagulation: 4 out of 122 [1.6% per patient‐year]; no anticoagulation: 6 out of 131 [2.3% per patient‐year]). Numerically, there were more major bleeding events with anticoagulation in patients with prior stroke or TIA (8 out of 122 patients) than without anticoagulation (2 out of 131 patients). Conclusions Anticoagulation appears to have ambiguous effects in patients with device‐detected AF and a prior stroke or TIA in this hypothesis‐generating analysis of the NOAH‐AFNET 6 in the absence of ECG‐documented AF, partially due to a low rate of stroke without anticoagulation.

Published
2024
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6. Health needs and health service utilisation of children and adolescents with intellectual disability attending schools for specific purposes in Sydney, Australia

Author

Michelle Corke, Alicia Montgomery, Robert Leitner, and Vanessa Sarkozy

Subjects
Health needs, paediatrics, intellectual disability, health services, Yang Gao, Hong Kong Baptist University, Hong Kong, health conditions, Public aspects of medicine, RA1-1270
Abstract

AbstractBackground Little is known about the health needs and service utilisation of children and adolescents with moderate and severe intellectual disability in Australia.Aim To describe the health needs and health service utilisation of children and adolescents with intellectual disability attending Schools for Specific Purposes in Sydney, Australia.Methods We performed a retrospective review of 116 students attending three clinics within Schools for Specific Purposes in NSW. Extracted data explored health and social needs, and patterns of health service utilisation.Results Students’ mean age was 12.6 years (SD = 3.6) and 76% were male (n = 88), with 28% from families with a primary language other than English (n = 33). At least one housing concern was identified in 19% (n = 22), and there was history of child protection concerns in 19% (n = 22). At least one behavioural challenge was identified in 92% (n = 107), and 34% (n = 40) were prescribed anti-psychotic medication. Among those with non-syndromic moderate to severe intellectual disability (n = 97), more than 3 comorbid medical diagnoses were identified in 26% (n = 25).Conclusions Our study demonstrates high health and social needs among Australian children and adolescents with intellectual disability.

Published
2024
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8. CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Author

Maio, Nunziata, Orbach, Rotem, Zaharieva, Irina T., Topf, Ana, Donkervoort, Sandra, Munot, Pinki, Mueller, Juliane, Willis, Tracey, Verma, Sumit, Peric, Stojan, Krishnakumar, Deepa, Sudhakar, Sniya, Foley, A. Reghan, Silverstein, Sarah, Douglas, Ganka, Pais, Lynn, DiTroia, Stephanie, Grunseich, Christopher, Hu, Ying, Sewry, Caroline, Sarkozy, Anna, Straub, Volker, Muntoni, Francesco, Rouault, Tracey A., and Bonnemann, Carsten G.

Subjects
Gene mutations -- Research, Cytoplasm -- Genetic aspects -- Health aspects, Medical research, Medicine, Experimental, Neuromuscular diseases -- Causes of -- Genetic aspects, Iron proteins -- Genetic aspects -- Health aspects, Enzymes -- Genetic aspects -- Health aspects, Health care industry
Abstract

Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA) machinery for cluster acquisition. The core of the CIA machinery consists of a complex of CIAO1, MMS19 and FAM96B. The physiological consequences of loss of function in the components of the CIA pathway have thus far remained uncharacterized. Our study revealed that patients with biallelic loss of function in CIAO1 developed proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. In addition, they presented with CNS symptoms including learning difficulties and neurobehavioral comorbidities, along with iron deposition in deep brain nuclei, mild normocytic to macrocytic anemia, and gastrointestinal symptoms. Mutational analysis revealed reduced stability of the variants compared with WT CIAO1. Functional assays demonstrated failure of the variants identified in patients to recruit Fe-S recipient proteins, resulting in compromised activities of DNA helicases, polymerases, and repair enzymes that rely on the CIA complex to acquire their Fe-S cofactors. Lentivirus-mediated restoration of CIAO1 expression reversed all patient-derived cellular abnormalities. Our study identifies CIAO1 as a human disease gene and provides insights into the broader implications of the cytosolic Fe-S assembly pathway in human health and disease., Introduction Iron-sulfur (Fe-S) clusters are ancient and evolutionarily conserved prosthetic groups with unique chemical properties that enable the proteins that contain them (Fe-S proteins) to function in several essential cellular [...]

Published
2024
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9. Sequential Unipolar Biventricular Pulsed Field Ablation for Refractory Intramural Septal Ventricular Tachycardia

Author

María Cespón-Fernández, MD, PhD, Luigi Pannone, MD, Domenico Della Rocca, MD, PhD, Mark La Meir, MD, PhD, Alexander Almorad, MD, Gian-Battista Chierchia, MD, PhD, Carlo de Asmundis, MD, PhD, and Andrea Sarkozy, MD, PhD

Subjects
arrhythmogenic right ventricular cardiomyopathy, intramural septal ablation, pulsed field ablation, ventricular tachycardia, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Catheter ablation of septal ventricular tachycardia (VT) is challenging. Pulsed field ablation is a promising technology, potentially reaching deep substrates. We report the first sequential unipolar biventricular pulsed field ablation targeting refractory septal VT. Besides, we illustrate the importance of searching underlying cardiomyopathy in patients with recurrent multiple morphology VTs and normal magnetic resonance imaging.

Published
2024
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10. Predicting and Recognizing Drug‐Induced Type I Brugada Pattern Using ECG‐Based Deep Learning

Author

Paul‐Adrian Călburean, Luigi Pannone, Cinzia Monaco, Domenico Della Rocca, Antonio Sorgente, Alexandre Almorad, Gezim Bala, Filippo Aglietti, Robbert Ramak, Ingrid Overeinder, Erwin Ströker, Gudrun Pappaert, Marius Măru’teri, Marius Harpa, Mark La Meir, Pedro Brugada, Juan Sieira, Andrea Sarkozy, Gian‐Battista Chierchia, and Carlo de Asmundis

Subjects
ajmaline testing, artificial intelligence, Brugada syndrome, deep learning, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Background Brugada syndrome (BrS) has been associated with sudden cardiac death in otherwise healthy subjects, and drug‐induced BrS accounts for 55% to 70% of all patients with BrS. This study aims to develop a deep convolutional neural network and evaluate its performance in recognizing and predicting BrS diagnosis. Methods and Results Consecutive patients who underwent ajmaline testing for BrS following a standardized protocol were included. ECG tracings from baseline and during ajmaline were transformed using wavelet analysis and a deep convolutional neural network was separately trained to (1) recognize and (2) predict BrS type I pattern. The resultant networks are referred to as BrS‐Net. A total of 1188 patients were included, of which 361 (30.3%) patients developed BrS type I pattern during ajmaline infusion. When trained and evaluated on ECG tracings during ajmaline, BrS‐Net recognized a BrS type I pattern with an AUC‐ROC of 0.945 (0.921–0.969) and an AUC‐PR of 0.892 (0.815–0.939). When trained and evaluated on ECG tracings at baseline, BrS‐Net predicted a BrS type I pattern during ajmaline with an AUC‐ROC of 0.805 (0.845–0.736) and an AUC‐PR of 0.605 (0.460–0.664). Conclusions BrS‐Net, a deep convolutional neural network, can identify BrS type I pattern with high performance. BrS‐Net can predict from baseline ECG the development of a BrS type I pattern after ajmaline with good performance in an unselected population.

Published
2024
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12. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms

Author

Alaggio, Rita, Amador, Catalina, Anagnostopoulos, Ioannis, Attygalle, Ayoma D, Araujo, Iguaracyra Barreto de Oliveira, Berti, Emilio, Bhagat, Govind, Borges, Anita Maria, Boyer, Daniel, Calaminici, Mariarita, Chadburn, Amy, Chan, John KC, Cheuk, Wah, Chng, Wee-Joo, Choi, John K, Chuang, Shih-Sung, Coupland, Sarah E, Czader, Magdalena, Dave, Sandeep S, de Jong, Daphne, Du, Ming-Qing, Elenitoba-Johnson, Kojo S, Ferry, Judith, Geyer, Julia, Gratzinger, Dita, Guitart, Joan, Gujral, Sumeet, Harris, Marian, Harrison, Christine J, Hartmann, Sylvia, Hochhaus, Andreas, Jansen, Patty M, Karube, Kennosuke, Kempf, Werner, Khoury, Joseph, Kimura, Hiroshi, Klapper, Wolfram, Kovach, Alexandra E, Kumar, Shaji, Lazar, Alexander J, Lazzi, Stefano, Leoncini, Lorenzo, Leung, Nelson, Leventaki, Vasiliki, Li, Xiao-Qiu, Lim, Megan S, Liu, Wei-Ping, Louissaint, Abner, Marcogliese, Andrea, Medeiros, L Jeffrey, Michal, Michael, Miranda, Roberto N, Mitteldorf, Christina, Montes-Moreno, Santiago, Morice, William, Nardi, Valentina, Naresh, Kikkeri N, Natkunam, Yasodha, Ng, Siok-Bian, Oschlies, Ilske, Ott, German, Parrens, Marie, Pulitzer, Melissa, Rajkumar, S Vincent, Rawstron, Andrew C, Rech, Karen, Rosenwald, Andreas, Said, Jonathan, Sarkozy, Clémentine, Sayed, Shahin, Saygin, Caner, Schuh, Anna, Sewell, William, Siebert, Reiner, Sohani, Aliyah R, Tooze, Reuben, Traverse-Glehen, Alexandra, Vega, Francisco, Vergier, Beatrice, Wechalekar, Ashutosh D, Wood, Brent, Xerri, Luc, and Xiao, Wenbin

Subjects
Cancer, Hematologic Neoplasms, Humans, Lymphoma, World Health Organization, Clinical Sciences, Oncology and Carcinogenesis, Immunology
Abstract

We herein present an overview of the upcoming 5th edition of the World Health Organization Classification of Haematolymphoid Tumours focussing on lymphoid neoplasms. Myeloid and histiocytic neoplasms will be presented in a separate accompanying article. Besides listing the entities of the classification, we highlight and explain changes from the revised 4th edition. These include reorganization of entities by a hierarchical system as is adopted throughout the 5th edition of the WHO classification of tumours of all organ systems, modification of nomenclature for some entities, revision of diagnostic criteria or subtypes, deletion of certain entities, and introduction of new entities, as well as inclusion of tumour-like lesions, mesenchymal lesions specific to lymph node and spleen, and germline predisposition syndromes associated with the lymphoid neoplasms.

Published
2022

13. Aproximación práctica para la caracterización de la miocardiopatía auricular en pacientes con fibrilación auricular

Author

La Rosa, Giulio, Morillo, Carlos A., Quintanilla, Jorge G., Doltra, Adelina, Mont, Lluis, Rodríguez-Mañero, Moisés, Sarkozy, Andrea, Merino, José Luis, Vivas, David, Datino, Tomás, Calvo, David, Pérez-Castellano, Nicasio, Pérez-Villacastín, Julián, Fauchier, Laurent, Lip, Gregory, Hatem, Stéphane N., Jalife, José, Sanchis, Laura, Marín, Francisco, and Filgueiras-Rama, David

Published
2024
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14. Practical approach for atrial cardiomyopathy characterization in patients with atrial fibrillation

Author

La Rosa, Giulio, Morillo, Carlos A., Quintanilla, Jorge G., Doltra, Adelina, Mont, Lluis, Rodríguez-Mañero, Moisés, Sarkozy, Andrea, Merino, José Luis, Vivas, David, Datino, Tomás, Calvo, David, Pérez-Castellano, Nicasio, Pérez-Villacastín, Julián, Fauchier, Laurent, Lip, Gregory, Hatem, Stéphane N., Jalife, José, Sanchis, Laura, Marín, Francisco, and Filgueiras-Rama, David

Published
2024
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15. Lower rate of major bleeding in very high risk patients undergoing left atrial appendage occlusion: A propensity score–matched comparison with direct oral anticoagulant

Author

Magnocavallo, Michele, Della Rocca, Domenico G., Vetta, Giampaolo, Mohanty, Sanghamitra, Gianni, Carola, Polselli, Marco, Rossi, Pietro, Parlavecchio, Antonio, Fazia, Mirco Vincenzo La, Guarracini, Fabrizio, De Vuono, Francesco, Bisignani, Antonio, Pannone, Luigi, Raposeiras-Roubín, Sergio, Lochy, Stijn, Cauti, Filippo Maria, Burkhardt, J. David, Boveda, Serge, Sarkozy, Andrea, Sorgente, Antonio, Bianchi, Stefano, Chierchia, Gian-Battista, de Asmundis, Carlo, Al-Ahmad, Amin, Di Biase, Luigi, Horton, Rodney P., and Natale, Andrea

Published
2024
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16. Obinutuzumab vs rituximab for transplant-eligible patients with mantle cell lymphoma

Author

Sarkozy, Clémentine, Callanan, Mary, Thieblemont, Catherine, Obéric, Lucie, Burroni, Barbara, Bouabdallah, Krimo, Damaj, Gandhi, Tessoulin, Benoit, Ribrag, Vincent, Houot, Roch, Morschhauser, Franck, Griolet, Samuel, Joubert, Clémentine, Cacheux, Victoria, Delwail, Vincent, Safar, Violaine, Gressin, Remy, Cheminant, Morgane, Delfau-Larue, Marie-Hélène, Hermine, Olivier, Macintyre, Elizabeth, and Le Gouill, Steven

Published
2024
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17. Correction: “The 5th edition of The World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms” Leukemia. 2022 Jul;36(7):1720–1748

Author

Alaggio, Rita, Amador, Catalina, Anagnostopoulos, Ioannis, Attygalle, Ayoma D., de Oliveira Araujo, Iguaracyra Barreto, Berti, Emilio, Bhagat, Govind, Borges, Anita Maria, Boyer, Daniel, Calaminici, Mariarita, Chadburn, Amy, Chan, John K. C., Cheuk, Wah, Chng, Wee-Joo, Choi, John K., Chuang, Shih-Sung, Coupland, Sarah E., Czader, Magdalena, Dave, Sandeep S., de Jong, Daphne, Di Napoli, Arianna, Du, Ming-Qing, Elenitoba-Johnson, Kojo S., Ferry, Judith, Geyer, Julia, Gratzinger, Dita, Guitart, Joan, Gujral, Sumeet, Harris, Marian, Harrison, Christine J., Hartmann, Sylvia, Hochhaus, Andreas, Jansen, Patty M., Karube, Kennosuke, Kempf, Werner, Khoury, Joseph, Kimura, Hiroshi, Klapper, Wolfram, Kovach, Alexandra E., Kumar, Shaji, Lazar, Alexander J., Lazzi, Stefano, Leoncini, Lorenzo, Leung, Nelson, Leventaki, Vasiliki, Li, Xiao-Qiu, Lim, Megan S., Liu, Wei-Ping, Louissaint, Jr, Abner, Marcogliese, Andrea, Medeiros, L. Jeffrey, Michal, Michael, Miranda, Roberto N., Mitteldorf, Christina, Montes-Moreno, Santiago, Morice, William, Nardi, Valentina, Naresh, Kikkeri N., Natkunam, Yasodha, Ng, Siok-Bian, Oschlies, Ilske, Ott, German, Parrens, Marie, Pulitzer, Melissa, Rajkumar, S. Vincent, Rawstron, Andrew C., Rech, Karen, Rosenwald, Andreas, Said, Jonathan, Sarkozy, Clémentine, Sayed, Shahin, Saygin, Caner, Schuh, Anna, Sewell, William, Siebert, Reiner, Sohani, Aliyah R., Suzuki, Ritsuro, Tooze, Reuben, Traverse-Glehen, Alexandra, Vega, Francisco, Vergier, Beatrice, Wechalekar, Ashutosh D., Wood, Brent, Xerri, Luc, and Xiao, Wenbin

Published
2023
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19. Atrial fibrillation ablation in patients with arrhythmia‐induced cardiomyopathy: a prospective multicentre study

Author

Teba González‐Ferrero, Marco Bergonti, José Nicolás López‐Canoa, Federico García‐Rodeja Arias, Sonia Eiras Penas, Francesco Spera, Adrián González‐Maestro, Carlos Minguito‐Carazo, José Luis Martínez‐Sande, Laila González‐Melchor, Francisco Javier García‐Seara, Jesús Alberto Fernández‐López, Ezequiel Álvarez‐Castro, José Ramón González‐Juanatey, Hein Heidbuchel, Andrea Sarkozy, and Moisés Rodríguez‐Mañero

Subjects
Atrial fibrillation, Catheter ablation, Heart failure, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Abstract Aims This study aims to investigate the clinical and biochemical characteristics of patients with atrial fibrillation (AF) referred for ablation who develop arrhythmia‐induced cardiomyopathy (AiCM) as well as their long‐term outcomes after catheter ablation (CA). Methods and results A prospective multicentre study was conducted on consecutive AF patients who underwent CA. AiCM was defined as the development of heart failure in the presence of AF and an improvement of left ventricular fraction by at least 10% at 6 months after ablation. A subgroup of patients underwent peripheral and left atrial blood samples [galectin‐3, fatty acid‐binding protein 4 (FABP4), and soluble receptor for advanced glycation end products (sRAGE)] at the time of the procedure. Of the 769 patients who underwent AF ablation, 135 (17.56%) met the criteria for AiCM. Independent predictors of AiCM included persistent AF, male gender, left atrial volume, QRS width, active smoking, and chronic kidney disease (CKD). Biomarker analysis revealed that sRAGE, FABP4, and galectin‐3 levels were not predictive of AiCM development nor did they differ between groups or predict recurrence. There were no differences in AF recurrence between patients with and without AiCM (30.83% vs. 27.77%; P = 0.392) during a median follow‐up of 23.83 months (inter‐quartile range 9–36). Conclusions In the subset of patients referred for AF ablation, the development of AiCM was associated with persistent AF and CKD. Biomarker analysis was not different between groups nor predicted recurrence. Patients with AiCM benefited from ablation, with a significant improvement in left ventricular ejection fraction and similar AF recurrence rates to those without AiCM.

Published
2023
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20. Genetic Testing in Brugada Syndrome: A 30-Year Experience

Author

Pannone, Luigi, Bisignani, Antonio, Osei, Randy, Gauthey, Anaïs, Sorgente, Antonio, Monaco, Cinzia, Della Rocca, Domenico Giovanni, Del Monte, Alvise, Strazdas, Antanas, Mojica, Joerelle, Al Housari, Maysam, Miraglia, Vincenzo, Mouram, Sahar, Vetta, Giampaolo, Paparella, Gaetano, Ramak, Robbert, Overeinder, Ingrid, Bala, Gezim, Almorad, Alexandre, Ströker, Erwin, Pappaert, Gudrun, Sieira, Juan, de Ravel, Thomy, La Meir, Mark, Sarkozy, Andrea, Brugada, Pedro, Chierchia, Gian Battista, Van Dooren, Sonia, and de Asmundis, Carlo

Published
2024
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21. SCN5A gene variants and arrhythmic risk in Brugada syndrome: An updated systematic review and meta-analysis

Author

Doundoulakis, Ioannis, Pannone, Luigi, Chiotis, Sotirios, Della Rocca, Domenico Giovanni, Sorgente, Antonio, Tsioufis, Panagiotis, Del Monte, Alvise, Vetta, Giampaolo, Piperis, Christos, Overeinder, Ingrid, Bala, Gezim, Almorad, Alexandre, Ströker, Erwin, Sieira, Juan, La Meir, Mark, Brugada, Pedro, Tsiachris, Dimitrios, Sarkozy, Andrea, Chierchia, Gian Battista, and de Asmundis, Carlo

Published
2024
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22. Integrated single cell analysis reveals co-evolution of malignant B cells and tumor micro-environment in transformed follicular lymphoma

Author

Sarkozy, Clémentine, Wu, Shaocheng, Takata, Katsuyoshi, Aoki, Tomohiro, Neriah, Susana B., Milne, Katy, Goodyear, Talia, Strong, Celia, Rastogi, Tashi, Hilton, Laura K., Lai, Daniel, Sehn, Laurie H., Farinha, Pedro, Nelson, Brad H., Weng, Andrew, Marra, Marco, Scott, David W., Craig, Jeffrey W., Steidl, Christian, and Roth, Andrew

Published
2024
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23. Pulsed field ablation of the right superior pulmonary vein prevents vagal responses via anterior right ganglionated plexus modulation

Author

Del Monte, Alvise, Della Rocca, Domenico Giovanni, Pannone, Luigi, Vetta, Giampaolo, Cespón Fernández, María, Marcon, Lorenzo, Doundoulakis, Ioannis, Mouram, Sahar, Audiat, Charles, Zeriouh, Sarah, Monaco, Cinzia, Al Housari, Maysam, Betancur, Andrés, Mené, Roberto, Iacopino, Saverio, Sorgente, Antonio, Bala, Gezim, Ströker, Erwin, Sieira, Juan, Almorad, Alexandre, Sarkozy, Andrea, Boveda, Serge, de Asmundis, Carlo, and Chierchia, Gian-Battista

Published
2024
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24. ARID1A orchestrates SWI/SNF-mediated sequential binding of transcription factors with ARID1A loss driving pre-memory B cell fate and lymphomagenesis

Author

Barisic, Darko, Chin, Christopher R., Meydan, Cem, Teater, Matt, Tsialta, Ioanna, Mlynarczyk, Coraline, Chadburn, Amy, Wang, Xuehai, Sarkozy, Margot, Xia, Min, Carson, Sandra E., Raggiri, Santo, Debek, Sonia, Pelzer, Benedikt, Durmaz, Ceyda, Deng, Qing, Lakra, Priya, Rivas, Martin, Steidl, Christian, Scott, David W., Weng, Andrew P., Mason, Christopher E., Green, Michael R., and Melnick, Ari

Published
2024
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25. Muscle magnetic resonance imaging involvement patterns in nemaline myopathies

Author

Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, and Anna Sarkozy

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort. Methods Modified Mercuri scoring of lower limb MRI in genetically characterised NM patients referred to the highly specialised service for congenital myopathies at Great Ormond Street Hospital. Findings were compared to clinical data and MRI patterns derived from collated published data. Results Twenty‐seven patients with MRI were identified (8 NEB‐NM, 13 ACTA1‐NM, 6 TPM3‐NM). NEB‐NM demonstrated sparing of the thigh. ACTA1‐NM demonstrated diffuse thigh involvement, notable in the vasti, sartorius and biceps‐femoris, with relative adductor and gracilis sparing. TPM3‐NM demonstrated diffuse thigh involvement notable in biceps‐femoris and adductor magnus with relative rectus femoris, adductor longus and gracilis sparing. In the lower leg, the soleus and tibialis anterior are notably involved in all three genotypes. NEB‐NM and ACTA1‐NM demonstrated relative gastrocnemii and tibialis posterior sparing, while TPM3‐NM showed significantly more tibialis posterior involvement (P =

Published
2023
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26. Pericarditis prophylactic therapy after sinus node–sparing hybrid ablation for inappropriate sinus tachycardia/postural orthostatic sinus tachycardia

Author

de Asmundis, Carlo, Marcon, Lorenzo, Pannone, Luigi, Della Rocca, Domenico Giovanni, Lakkireddy, Dhanunjaya, Beaver, Thomas M., Brodt, Chad R., Monaco, Cinzia, Sorgente, Antonio, Audiat, Charles, Vetta, Giampaolo, Ramak, Robbert, Overeinder, Ingrid, Kronenberger, Rani, Bala, Gezim, Almorad, Alexandre, Ströker, Erwin, Sieira, Juan, Sarkozy, Andrea, Brugada, Pedro, Chierchia, Gian Battista, and La Meir, Mark

Published
2024
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27. Atrial fibrillation burden: Stepping beyond the categorical characterization

Author

Doundoulakis, Ioannis, Nedios, Sotirios, Zafeiropoulos, Stefanos, Vitolo, Marco, Della Rocca, Domenico Giovanni, Kordalis, Athanasios, Shamloo, Alireza Sepehri, Koliastasis, Leonidas, Marcon, Lorenzo, Chiotis, Sotirios, Sorgente, Antonio, Soulaidopoulos, Stergios, Imberti, Jacopo F., Botis, Michail, Pannone, Luigi, Gatzoulis, Konstantinos A., Sarkozy, Andrea, Stavrakis, Stavros, Boriani, Giuseppe, Boveda, Serge, Tsiachris, Dimitris, Chierchia, Gian-Battista, and de Asmundis, Carlo

Published
2024
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30. Turan and Ramsey numbers in linear triple systems

Author

Gyarfas, Andras and Sarkozy, Gabor N.

Subjects
Mathematics - Combinatorics
Abstract

In this paper we study Tur\'an and Ramsey numbers in linear triple systems, defined as $3$-uniform hypergraphs in which any two triples intersect in at most one vertex. A famous result of Ruzsa and Szemer\'edi is that for any fixed $c>0$ and large enough $n$ the following Tur\'an-type theorem holds. If a linear triple system on $n$ vertices has at least $cn^2$ edges then it contains a {\em triangle}: three pairwise intersecting triples without a common vertex. In this paper we extend this result from triangles to other triple systems, called {\em $s$-configurations}. The main tool is a generalization of the induced matching lemma from $aba$-patterns to more general ones. We slightly generalize $s$-configurations to {\em extended $s$-configurations}. For these we cannot prove the corresponding Tur\'an-type theorem, but we prove that they have the weaker, Ramsey property: they can be found in any $t$-coloring of the blocks of any sufficiently large Steiner triple system. Using this, we show that all unavoidable configurations with at most 5 blocks, except possibly the ones containing the sail $C_{15}$ (configuration with blocks 123, 345, 561 and 147), are $t$-Ramsey for any $t\geq 1$. The most interesting one among them is the {\em wicket}, $D_4$, formed by three rows and two columns of a $3\times 3$ point matrix. In fact, the wicket is $1$-Ramsey in a very strong sense: all Steiner triple systems except the Fano plane must contain a wicket.

Published
2020

31. On additive and multiplicative decompositions of sets of integers with restricted prime factors, II. (Smooth numbers and generalizations.)

Author

Gyory, K., Hajdu, L., and Sarkozy, A.

Subjects
Mathematics - Number Theory
Abstract

In part I of this paper we studied additive decomposability of the set $\F_y$ of th $y$-smooth numbers and the multiplicative decomposability of the shifted set $\g_y=\F_y+\{1\}$. In this paper, focusing on the case of 'large' functions $y$, we continue the study of these problems. Further, we also investigate a problem related to the m-decomposability of $k$-term sumsets, for arbitrary $k$.

Published
2020

32. International retrospective natural history study of LMNA-related congenital muscular dystrophy

Author

Yaou, Rabah Ben, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D’Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Francesco, Muntoni F, Pierson, Tyler M, Gómez-Andrés, David, Foley, A Reghan, Quijano-Roy, Susana, Bönnemann, Carsten G, and Bonne, Gisèle

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Genetics, Cardiovascular, Clinical Research, Pediatric, Muscular Dystrophy, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Musculoskeletal, laminopathies, striated muscle, LMNA, early onset, muscular dystrophy, Clinical sciences, Neurosciences, Biological psychology
Abstract

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.

Published
2021

33. International retrospective natural history study of LMNA-related congenital muscular dystrophy.

Author

Ben Yaou, Rabah, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D'Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Reghan Foley, A, Quijano-Roy, Susana, Bönnemann, Carsten G, and Bonne, Gisèle

Subjects
LMNA, early onset, laminopathies, muscular dystrophy, striated muscle
Abstract

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.

Published
2021

36. Re-evaluating cloud chamber constraints on depositional ice growth in cirrus clouds – Part 1: Model description and sensitivity tests

Author

K. D. Lamb, J. Y. Harrington, B. W. Clouser, E. J. Moyer, L. Sarkozy, V. Ebert, O. Möhler, and H. Saathoff

Subjects
Physics, QC1-999, Chemistry, QD1-999
Abstract

Ice growth from vapor deposition is an important process for the evolution of cirrus clouds, but the physics of depositional ice growth at the low temperatures ( K) characteristic of the upper troposphere and lower stratosphere is not well understood. Surface attachment kinetics, generally parameterized as a deposition coefficient αD, control ice crystal habit and also may limit growth rates in certain cases, but significant discrepancies between experimental measurements have not been satisfactorily explained. Experiments on single ice crystals have previously indicated the deposition coefficient is a function of temperature and supersaturation, consistent with growth mechanisms controlled by the crystal's surface characteristics. Here we use observations from cloud chamber experiments in the Aerosol Interactions and Dynamics in the Atmosphere (AIDA) aerosol and cloud chamber to evaluate surface kinetic models in realistic cirrus conditions. These experiments have rapidly changing temperature, pressure, and ice supersaturation such that depositional ice growth may evolve from diffusion limited to surface kinetics limited over the course of a single experiment. In Part 1, we describe the adaptation of a Lagrangian parcel model with the Diffusion Surface Kinetics Ice Crystal Evolution (DiSKICE) model (Zhang and Harrington, 2014) to the AIDA chamber experiments. We compare the observed ice water content and saturation ratios to that derived under varying assumptions for ice surface growth mechanisms for experiments simulating ice clouds between 180 and 235 K and pressures between 150 and 300 hPa. We found that both heterogeneous and homogeneous nucleation experiments at higher temperatures (>205 K) could generally be modeled consistently with either a constant deposition coefficient or the DiSKICE model assuming growth on isometric crystals via abundant surface dislocations. Lower-temperature experiments showed more significant deviations from any depositional growth model, with different ice growth rates for heterogeneous and homogeneous nucleation experiments.

Published
2023
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37. Long-term analysis of the RiBVD phase II trial reveals the unfavorable impact of TP53 mutations and hypoalbuminemia in older adults with mantle cell lymphoma; for the LYSA group

Author

Sylvain Carras, Alexia Torroja, Anouk Emadali, Emilie Montaut, Nicolas Daguindau, Adrian Tempescul, Anne Moreau, Emmanuelle Tchernonog, Anna Schmitt, Roch Houot, Caroline Dartigeas, Sarah Barbieux, Selim Corm, Anne Banos, Ludovic Fouillet, Jehan Dupuis, Margaret Macro, Joel Fleury, Fabrice Jardin, Clementine Sarkozy, Ghandi Damaj, Pierre Feugier, Luc Matthieu Fornecker, Cecile Chabrot, Veronique Dorvaux, Krimo Bouabdallah, Sandy Amorim, Reda Garidi, Laurent Voillat, Bertrand Joly, Nadine Morineau, Marie Pierre Moles, Hacene Zerazhi, Jean Fontan, Yazid Arkam, Magda Alexis, Vincent Delwail, Jean Pierre Vilque, Loic Ysebaert, Barbara Burroni, Mary Callanan, Steven Le Gouill, and Rémy Gressin

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Abstract

Between 2011 and 2012, a phase II trial evaluated the use of the RiBVD (rituximab, bendamustine, velcade and dexamethasone) combination as first-line treatment for mantle cell lymphoma (MCL) patients over the age of 65. We have now re-examined the classic prognostic factors, adding an assessment of TP53 mutation status. Patients (N=74; median age 73 years) were treated with the RiBVD combination. Median progression-free survival (mPFS) was 79 months and median overall survival (mOS) was 111 months. TP53 mutation status was available for 54/74 (73%) patients. TP53 mutations (TP53mt) were found in 12 patients (22.2%). In multivariate analysis, among the prognostic factors (PF) evaluated, only TP53mt and an albumin level (Alb) 3.6 g/dL were independently associated with a shorter mPFS. A hazard ratio (HR) of 3.16 (1.3-9.9, P=0.014) was obtained for TP53mt versus TP53 wild-type (wt), and 3.6 (1.39-9.5, P=0.009) for Alb

Published
2023
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38. Pulmonary Vein Remodeling Between Atrial Fibrillation Subtypes: A Matched Comparison Cardiac Computed Tomography-Based Study Between Patients With Paroxysmal and Persistent Atrial Fibrillation

Author

Housari, Maysam Al, Miraglia, Vincenzo, Terasawa, Muryo, Kazawa, Shuichiro, Monte, Alvise Del, Bala, Gezim, Pannone, Luigi, Della Rocca, Domenico Giovanni, Cosyns, Bernard, Droogmans, Steven, Tanaka, Kaoru, Belsack, Dries, De Mey, Johan, Overeinder, Ingrid, Almorad, Alexandre, Sieira, Juan, Brugada, Pedro, Sarkozy, Andrea, Chierchia, Gian-Battista, de Asmundis, Carlo, and Ströker, Erwin

Published
2023
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39. Atrial Abnormalities in Brugada Syndrome: Evaluation With ECG Imaging

Author

Bisignani, Antonio, Pannone, Luigi, Del Monte, Alvise, Eltsov, Ivan, Cappello, Ida Anna, Sieira, Juan, Monaco, Cinzia, Bala, Gezim, Mouram, Sahar, Della Rocca, Domenico Giovanni, Ströker, Erwin, Overeinder, Ingrid, Almorad, Alexandre, Pappaert, Gudrun, Gauthey, Anaïs, de Ravel, Thomy, Van Dooren, Sonia, Sorgente, Antonio, La Meir, Mark, Sarkozy, Andrea, Brugada, Pedro, Chierchia, Gian-Battista, and de Asmundis, Carlo

Published
2023
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40. 2023 HRS expert consensus statement on the management of arrhythmias during pregnancy

Author

Joglar, José A., Kapa, Suraj, Saarel, Elizabeth V., Dubin, Anne M., Gorenek, Bulent, Hameed, Afshan B., Lara de Melo, Sissy, Leal, Miguel A., Mondésert, Blandine, Pacheco, Luis D., Robinson, Melissa R., Sarkozy, Andrea, Silversides, Candice K., Spears, Danna, Srinivas, Sindhu K., Strasburger, Janette F., Tedrow, Usha B., Wright, Jennifer M., Zelop, Carolyn M., and Zentner, Dominica

Published
2023
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41. Gender-Related Differences in Atrial Substrate in Patients with Atrial Fibrillation

Author

Van Leuven, Olivier, Bergonti, Marco, Spera, Francesco Raffaele, Ferrero, Teba Gonzalez, Nsahlai, Michelle, Bilotta, Giada, Tijskens, Maxime, Boris, Wim, Saenen, Johan, Huybrechts, Wim, Miljoen, Hielko, González-Juanatey, Jose Ramón, Martínez-Sande, Jose Luis, Vandaele, Lien, Wittock, Anouk, Heidbuchel, Hein, Valderrábano, Miguel, Rodríguez-Mañero, Moises, and Sarkozy, Andrea

Published
2023
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44. P1079: VERY LONG-TERM FOLLOW-UP OF RITUXIMAB MAINTENANCE IN YOUNG PATIENTS WITH MANTLE CELL LYMPHOMA INCLUDED IN THE LYMA TRIAL, A LYSA STUDY.

Author

Clementine Sarkozy, Catherine Thieblemont, Lucie Oberic, Anne Moreau, Kamal Bouabdallah, Gandhi Laurent Damaj, Thomas Gastinne, Vincent Ribrag, Rene Olivier Casasnovas, Corinne Haioun, Roch Houot, Fabrice Jardin, Eric Van Den Neste, Morgane Cheminant, Franck Morschhauser, Mary Callanan, Herve Ghesquieres, Remy Gressin, Olivier Hermine, and Steven Le Gouill

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Published
2023
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49. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe

Published
2023
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50. Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Author

William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, and Robert D. S. Pitceathly

Subjects
Science
Abstract

Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist multidisciplinary team.

Published
2022
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