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1. Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry

Author: Asselbergs F. W., Sammani A., Elliott P., Gimeno J. R., Tavazzi L., Tendera M., Kaski J. P., Maggioni A. P., Rubis P. P., Jurcut R., Helio T., Calo L., Sinagra G., Zdravkovic M., Olivotto I., Kavoliuniene A., Laroche C., Caforio A. L. P., Charron P., Komissarova S., Chakova N., Niyazova S., Linhart A., Kuchynka P., Palecek T., Podzimkova J., Fikrle M., Nemecek E., Bundgaard H., Tfelt-Hansen J., Theilade J., Thune J. J., Axelsson A., Mogensen J., Henriksen F., Hey T., Nielsen S. K., Videbaek L., Andreasen S., Arnsted H., Saad A., Ali M., Lommi J., Nieminennew M. S., Dubourg O., Mansencal N., Arslan M., Siam Tsieu V., Damy T., Guellich A., Guendouz S., Tissot C. M., Lamine A., Rappeneau S., Hagege A., Desnos M., Bachet A., Hamzaoui M., Isnard R., Legrand L., Maupain C., Gandjbakhch E., Kerneis M., Pruny J. -F., Bauer A., Pfeiffer B., Felix S. B., Dorr M., Kaczmarek S., Lehnert K., Pedersen A. -L., Beug D., Bruder M., Bohm M., Kindermann I., Linicus Y., Werner C., Neurath B., Schild-Ungerbuehler M., Seggewiss H., Neugebauer A., McKeown P., Muir A., McOsker J., Jardine T., Divine G., Lorenzini M., Watkinson O., Wicks E., Iqbal H., Mohiddin S., O'Mahony C., Sekri N., Carr-White G., Bueser T., Rajani R., Clack L., Damm J., Jones S., Sanchez-Vidal R., Smith M., Walters T., Wilson K., Rosmini S., Anastasakis A., Ritsatos K., Vlagkouli V., Forster T., Sepp R., Borbas J., Nagy V., Tringer A., Kakonyi K., Szabo L. A., Maleki M., Noohi Bezanjani F., Amin A., Naderi N., Parsaee M., Taghavi S., Ghadrdoost B., Jafari S., Khoshavi M., Rapezzi C., Biagini E., Corsini A., Gagliardi C., Graziosi M., Longhi S., Milandri A., Ragni L., Palmieri S., Arretini A., Castelli G., Cecchi F., Fornaro A., Tomberli B., Spirito P., Devoto E., Della Bella P., Maccabelli G., Sala S., Guarracini F., Peretto G., Russo M. G., Calabro R., Pacileo G., Limongelli G., Masarone D., Pazzanese V., Rea A., Rubino M., Tramonte S., Valente F., Caiazza M., Cirillo A., Del Giorno G., Esposito A., Gravino R., Marrazzo T., Trimarco B., Losi M. -A., Di Nardo C., Giamundo A., Musella F., Pacelli F., Scatteia A., Canciello G., Caforio A., Iliceto S., Calore C., Leoni L., Perazzolo Marra M., Rigato I., Tarantini G., Schiavo A., Testolina M., Arbustini E., Di Toro A., Giuliani L. P., Serio A., Fedele F., Frustaci A., Alfarano M., Chimenti C., Drago F., Baban A., Lanzillo C., Martino A., Uguccioni M., Zachara E., Halasz G., Re F., Carriere C., Merlo M., Ramani F., Krivickiene A., Tamuleviciute-Prasciene E., Viezelis M., Celutkiene J., Balkeviciene L., Laukyte M., Paleviciute E., Pinto Y., Wilde A., Van Der Heijden J., Van Laake L., De Jonge N., Hassink R., Kirkels J. H., Ajuluchukwu J., Olusegun-Joseph A., Ekure E., Mizia-Stec K., Czekaj A., Sikora-Puz A., Skoczynska A., Wybraniec M., Rubis P., Dziewiecka E., Wisniowska-Smialek S., Bilinska Z., Chmielewski P., Foss-Nieradko B., Michalak E., Stepien-Wojno M., Mazek B., Rocha Lopes L., Almeida A. R., Cruz I., Gomes A. C., Pereira A. R., Brito D., Madeira H., Francisco A. R., Menezes M., Moldovan O., Oliveira Guimaraes T., Silva D., Ginghina C., Mursa A., Popescu B. A., Apetrei E., Militaru S., Mircea Coman I., Frigy A., Fogarasi Z., Kocsis I., Szabo I. A., Fehervari L., Nikitin I., Resnik E., Komissarova M., Lazarev V., Shebzukhova M., Ustyuzhanin D., Blagova O., Alieva I., Kulikova V., Lutokhina Y., Pavlenko E., Varionchik N., Ristic A. D., Seferovic P. M., Veljic I., Zivkovic I., Milinkovic I., Pavlovic A., Radovanovic G., Simeunovic D., Aleksic M., Djokic J., Hinic S., Klasnja S., Mircetic K., Monserrat L., Fernandez X., Garcia-Giustiniani D., Larranaga J. M., Ortiz-Genga M., Barriales-Villa R., Martinez-Veira C., Veira E., Cequier A., Salazar-Mendiguchia J., Manito N., Gonzalez J., Fernandez-Aviles F., Medrano C., Yotti R., Cuenca S., Espinosa M. A., Mendez I., Zatarain E., Alvarez R., Garcia-Pavia P., Briceno A., Cobo-Marcos M., Dominguez F., De Teresa Galvan E., Garcia Pinilla J. M., Abdeselam-Mohamed N., Lopez-Garrido M. A., Morcillo Hidalgo L., Ortega-Jimenez M. V., Robles Mezcua A., Guijarro-Contreras A., Gomez-Garcia D., Robles-Mezcua M., Gimeno Blanes J. R., Castro F. J., Munoz Esparza C., Sabater Molina M., Sorli Garcia M., Lopez Cuenca D., Ripoll-Vera T., Alvarez J., Nunez J., Gomez Y., Sanchez Fernandez P. L., Villacorta E., Avila C., Bravo L., Diaz-Pelaez E., Gallego-Delgado M., Garcia-Cuenllas L., Plata B., Lopez-Haldon J. E., Pena Pena M. L., Cantero Perez E. M., Zorio E., Arnau M. A., Sanz J., Marques-Sulex E., University Medical Center [Utrecht], University College of London [London] (UCL), Hospital Univeristario Virgen de la Arrixaca, University Hospital of Ferrara and Maria Cecilia Hospital, Medical University of Silesia, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Chair of Medical Biochemistry, Jagiellonian University - Medical College, Chair of Medical Biochemistry, Emergency Hospital Floreasca Bucharest, Emergency Hospital Floreasca Bucharest, 8 Calea Floresca, Sector 1, 014461 Bucharest, Romania, University of Helsinki, Policlinico Casilino (Ospedale Policlinico Casilino), University of Trieste, University of Belgrade [Belgrade], Careggi University Hospital, Lithuanian University of health Sciences [Kaunas], Universita degli Studi di Padova, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca [Murcia], Medical University of Silesia (SUM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Università degli studi di Trieste = University of Trieste, Università degli Studi di Padova = University of Padua (Unipd), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), HAL-SU, Gestionnaire, Asselbergs, F. W., Sammani, A., Elliott, P., Gimeno, J. R., Tavazzi, L., Tendera, M., Kaski, J. P., Maggioni, A. P., Rubis, P. P., Jurcut, R., Helio, T., Calo, L., Sinagra, G., Zdravkovic, M., Olivotto, I., Kavoliuniene, A., Laroche, C., Caforio, A. L. P., Charron, P., Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J. J., Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S. K., Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Nieminennew, M. S., Dubourg, O., Mansencal, N., Arslan, M., Siam Tsieu, V., Damy, T., Guellich, A., Guendouz, S., Tissot, C. M., Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J. -F., Bauer, A., Pfeiffer, B., Felix, S. B., Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A. -L., Beug, D., Bruder, M., Bohm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., Mckeown, P., Muir, A., Mcosker, J., Jardine, T., Divine, G., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L. A., Maleki, M., Noohi Bezanjani, F., Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Della Bella, P., Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M. G., Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M. -A., Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Perazzolo Marra, M., Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L. P., Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Carriere, C., Merlo, M., Ramani, F., Krivickiene, A., Tamuleviciute-Prasciene, E., Viezelis, M., Celutkiene, J., Balkeviciene, L., Laukyte, M., Paleviciute, E., Pinto, Y., Wilde, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J. H., Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Rocha Lopes, L., Almeida, A. R., Cruz, I., Gomes, A. C., Pereira, A. R., Brito, D., Madeira, H., Francisco, A. R., Menezes, M., Moldovan, O., Oliveira Guimaraes, T., Silva, D., Ginghina, C., Mursa, A., Popescu, B. A., Apetrei, E., Militaru, S., Mircea Coman, I., Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I. A., Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A. D., Seferovic, P. M., Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larranaga, J. M., Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernandez-Aviles, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M. A., Mendez, I., Zatarain, E., Alvarez, R., Garcia-Pavia, P., Briceno, A., Cobo-Marcos, M., Dominguez, F., De Teresa Galvan, E., Garcia Pinilla, J. M., Abdeselam-Mohamed, N., Lopez-Garrido, M. A., Morcillo Hidalgo, L., Ortega-Jimenez, M. V., Robles Mezcua, A., Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Gimeno Blanes, J. R., Castro, F. J., Munoz Esparza, C., Sabater Molina, M., Sorli Garcia, M., Lopez Cuenca, D., Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Sanchez Fernandez, P. L., Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J. E., Pena Pena, M. L., Cantero Perez, E. M., Zorio, E., Arnau, M. A., Sanz, J., Marques-Sulex, E., Cardiology, ACS - Heart failure & arrhythmias, HUS Heart and Lung Center, Clinicum, Department of Medicine, Kardiologian yksikkö, Helsinki University Hospital Area, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
Subjects: Registrie, lcsh:Diseases of the circulatory (Cardiovascular) system, EUROBSERVATIONAL RESEARCH-PROGRAM, Dilated cardiomyopathy, Europe, Familial, Genetic, Prognosis, Sporadic, Adult, Humans, Prospective Studies, Registries, Cardiomyopathies, Cardiomyopathy, Dilated, Myocarditis, Cardiomyopathy, 030204 cardiovascular system & hematology, 0302 clinical medicine, Original Research Articles, Dilated, PILOT, Original Research Article, 030212 general & internal medicine, Prospective cohort study, Ejection fraction, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, Guideline adherence, 3. Good health, Cardiology and Cardiovascular Medicine, Human, medicine.medical_specialty, Prognosi, FREQUENCY, 03 medical and health sciences, Internal medicine, medicine, Cardiomyopathie, Genetic testing, business.industry, medicine.disease, Prospective Studie, lcsh:RC666-701, 3121 General medicine, internal medicine and other clinical medicine, Heart failure, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; AimsDilated cardiomyopathy (DCM) is a complex disease where genetics interplay with extrinsic factors. This study aims to compare the phenotype, management, and outcome of familial DCM (FDCM) and non‐familial (sporadic) DCM (SDCM) across Europe.Methods and resultsPatients with DCM that were enrolled in the prospective ESC EORP Cardiomyopathy & Myocarditis Registry were included. Baseline characteristics, genetic testing, genetic yield, and outcome were analysed comparing FDCM and SDCM; 1260 adult patients were studied (238 FDCM, 707 SDCM, and 315 not disclosed). Patients with FDCM were younger (P < 0.01), had less severe disease phenotype at presentation (P < 0.02), more favourable baseline cardiovascular risk profiles (P ≤ 0.007), and less medication use (P ≤ 0.042). Outcome at 1 year was similar and predicted by NYHA class (HR 0.45; 95% CI [0.25–0.81]) and LVEF per % decrease (HR 1.05; 95% CI [1.02–1.08]. Throughout Europe, patients with FDCM received more genetic testing (47% vs. 8%, P < 0.01) and had higher genetic yield (55% vs. 22%, P < 0.01).ConclusionsWe observed that FDCM and SDCM have significant differences at baseline but similar short‐term prognosis. Whether modification of associated cardiovascular risk factors provide opportunities for treatment remains to be investigated. Our results also show a prevalent role of genetics in FDCM and a non‐marginal yield in SDCM although genetic testing is largely neglected in SDCM. Limited genetic testing and heterogeneity in panels provides a scaffold for improvement of guideline adherence.
Published: 2021
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2. Ectopic cilia in 112 dogs: A multicenter retrospective study

Author: Guillaume Cazalot, Matthieu Crémoux, Iona Mathieson, Anne-Sophie Poinsard, Julien Charron, Jean-Yves Douet, Jean-Baptiste Barbry, Charles Cassagnes, Sylvain Medan, Anne-Maïmiti Dulaurent, Olivier Balland, Thomas Dulaurent, Frédéric Goulle, Pierre-François Isard, Guillaume-Pierre Mias, Julien Michel, and Charlotte Barbé
Subjects: Male, medicine.medical_specialty, Conjunctiva, genetic structures, biology.animal_breed, French bulldog, Keratitis, Dogs, medicine, Animals, Cilia, Dog Diseases, Corneal Ulcer, Retrospective Studies, General Veterinary, biology, business.industry, Retrospective cohort study, medicine.disease, corneal ulcer, Hair follicle, eye diseases, Surgery, medicine.anatomical_structure, Granuloma, Female, sense organs, Eyelid, business
Abstract: Objective The aim of this retrospective study was to review the clinical data and outcomes of patients that suffered ectopic cilium (EC). Animals studied One hundred and twelve dogs from multiple private practices in France, with a clinical diagnosis of EC were included in the study. Results The mean age of affected dogs was 2.3 years. There were 64 females and 48 males. The most represented breeds were the Shi Tzu, the French Bulldog, the English Bulldog and the Chihuahua. Eleven dogs were affected bilaterally. The upper eyelid was implicated in 93.5% of the cases, with the median portion being the most affected. No statistical difference was observed between the right and the left eye. EC were associated with distichiasis in 50% of the cases. Pigmentation of the conjunctiva at the point of exit of the EC was present in 58% of the cases. EC were short in 75% and long in 25% of the cases. Corneal complications were statistically associated with short EC. The corneal lesions associated with EC were keratitis (94%), corneal granuloma (0.8%), corneal fibrosis (2.7%), corneal degeneration (0.8%), superficial corneal ulcer (68.7%), deep corneal ulcer (8%) and perforating corneal ulcer (0.8%). The surgeries which consisted of the removal of the hair follicle was successful in 88.4% of the cases. Conclusion EC is a rare condition which can be treated successfully by the removal of the hair follicles. It must be suspected in cases of corneal lesions unresponsive to medical treatment.
Published: 2021
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3. The impact of Mediterranean diet on coronary plaque vulnerability, microvascular function, inflammation and microbiome after an acute coronary syndrome: study protocol for the MEDIMACS randomized, controlled, mechanistic clinical trial

Author: Alex Mira, Francisco Fernández-Avilés, Dominique Charron, Ana I. Fernández, Enrique Gutiérrez-Ibañes, Reem Al-Daccak, Miguel Ángel Martínez-González, Uri Gophna, Roger Karlsson, Javier Bermejo, Raquel Yotti, and Irene Martín-Demiguel
Subjects: Acute coronary syndrome, medicine.medical_specialty, Medicine (General), Mediterranean diet, Medicine (miscellaneous), Diet, Mediterranean, law.invention, Study Protocol, R5-920, Randomized controlled trial, law, Internal medicine, Clinical endpoint, medicine, Humans, Pharmacology (medical), Prospective Studies, Acute Coronary Syndrome, Endothelial dysfunction, Coronary atherosclerosis, Randomized Controlled Trials as Topic, Inflammation, business.industry, Microbiota, Fibrous cap, medicine.disease, Atherosclerosis, Plaque, Atherosclerotic, Gastrointestinal Microbiome, Clinical trial, medicine.anatomical_structure, Immune system, Omics, business, Tomography, Optical Coherence
Abstract: Background Primary prevention trials have demonstrated that the traditional Mediterranean diet is associated with a reduction in cardiovascular mortality and morbidity. However, this benefit has not been proven for secondary prevention after an acute coronary syndrome (ACS). We hypothesized that a high-intensity Mediterranean diet intervention after an ACS decreases the vulnerability of atherosclerotic plaques by complex interactions between anti-inflammatory effects, microbiota changes and modulation of gene expression. Methods The MEDIMACS project is an academically funded, prospective, randomized, controlled and mechanistic clinical trial designed to address the effects of an active randomized intervention with the Mediterranean diet on atherosclerotic plaque vulnerability, coronary endothelial dysfunction and other mechanistic endpoints. One hundred patients with ACS are randomized 1:1 to a monitored high-intensity Mediterranean diet intervention or to a standard-of-care arm. Adherence to diet is assessed in both arms using food frequency questionnaires and biomarkers of compliance. The primary endpoint is the change (from baseline to 12 months) in the thickness of the fibrous cap of a non-significant atherosclerotic plaque in a non-culprit vessel, as assessed by repeated optical coherence tomography intracoronary imaging. Indices of coronary vascular physiology and changes in gastrointestinal microbiota, immunological status and protein and metabolite profiles will be evaluated as secondary endpoints. Discussion The results of this trial will address the key effects of dietary habits on atherosclerotic risk and will provide initial data on the complex interplay of immunological, microbiome-, proteome- and metabolome-related mechanisms by which non-pharmacological factors may impact the progression of coronary atherosclerosis after an ACS. Trial registration ClinicalTrials.govNCT03842319. Registered on 13 May 2019
Published: 2021

4. A novel risk model for predicting potentially life-threatening arrhythmias in non-ischemic dilated cardiomyopathy (DCM-SVA risk)

Author: Philippe Charron, Benjamin Meder, Jan Haas, Grażyna Truszkowska, Mateusz Śpiewak, Hugo A. Katus, Pierre Socie, Eric Villard, Pascale Richard, Jan Koelemenoglu, Małgorzata Stępień-Wojno, Farbod Sedaghat-Hamedani, Bogna Foss-Nieradko, Weng-Tein Gi, Joanna Zakrzewska-Koperska, Elham Kayvanpour, Arjan Sammani, Ewa Michalak, Anneline S.J.M. te Riele, Folkert W. Asselbergs, Tobias Miersch, Tomasz Zieliński, Zofia T. Bilińska, Norbert Frey, Annette F. Baas, Alicia Broezel, Przemysław Chmielewski, Angelique Curjol, Rafał Płoski, David H. Lehmann, and Cardiology
Subjects: Cardiomyopathy, Dilated, Adult, Cardiac/diagnosis, Male, medicine.medical_specialty, Cardiomyopathy, Left, Arrhythmias, Ventricular tachycardia, Ventricular Function, Left, Sudden cardiac death, QRS complex, Risk Factors, Internal medicine, Medicine, Humans, Ventricular Function, cardiovascular diseases, Death, Sudden, Cardiac/epidemiology, Aged, Ejection fraction, business.industry, Proportional hazards model, Arrhythmias, Cardiac/diagnosis, Arrhythmias, Cardiac, Dilated cardiomyopathy, Atrial fibrillation, Dilated/diagnosis, Stroke Volume, Middle Aged, medicine.disease, Sudden, Defibrillators, Implantable, Death, Death, Sudden, Cardiac, Cardiomyopathy, Dilated/diagnosis, cardiovascular system, Cardiology, Female, Implantable, Cardiology and Cardiovascular Medicine, business, Cardiac/epidemiology, Defibrillators
Abstract: Background Non-ischemic dilated cardiomyopathy (DCM) can be complicated by sustained ventricular arrhythmias (SVA) and sudden cardiac death (SCD). By now, left-ventricular ejection fraction (LV-EF) is the main guideline criterion for primary prophylactic ICD implantation, potentially leading either to overtreatment or failed detection of patients at risk without severely impaired LV-EF. The aim of the European multi-center study DETECTIN-HF was to establish a clinical risk calculator for individualized risk stratification of DCM patients. Methods 1393 patients (68% male, mean age 50.7 ± 14.3y) from four European countries were included. The outcome was occurrence of first potentially life-threatening ventricular arrhythmia. The model was developed using Cox proportional hazards, and internally validated using cross validation. The model included seven independent and easily accessible clinical parameters sex, history of non-sustained ventricular tachycardia, history of syncope, family history of cardiomyopathy, QRS duration, LV-EF, and history of atrial fibrillation. The model was also expanded to account for presence of LGE as the eight8h parameter for cases with available cMRI and scar information. Results During a mean follow-up period of 57.0 months, 193 (13.8%) patients experienced an arrhythmic event. The calibration slope of the developed model was 00.97 (95% CI 0.90–1.03) and the C-index was 0.72 (95% CI 0.71–0.73). Compared to current guidelines, the model was able to protect the same number of patients (5-year risk ≥8.5%) with 15% fewer ICD implantations. Conclusions This DCM-SVA risk model could improve decision making in primary prevention of SCD in non-ischemic DCM using easily accessible clinical information and will likely reduce overtreatment.
Published: 2021
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5. Tissue outcome prediction in hyperacute ischemic stroke: Comparison of machine learning models

Author: Sylvain Charron, Guillaume Turc, Jean-Claude Baron, Joseph Benzakoun, Bertrand Thirion, Wagih Ben Hassen, Gregoire Boulouis, Catherine Oppenheim, Olivier Naggara, Laurence Legrand, Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), GHU Paris Psychiatrie et Neurosciences, Université de Paris - UFR Médecine Paris Centre [Santé] (UP Médecine Paris Centre), Université de Paris (UP), Modelling brain structure, function and variability based on high-field MRI data (PARIETAL), Inria Saclay - Ile de France, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Service NEUROSPIN (NEUROSPIN), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), UFR Médecine [Santé] - Université Paris Cité (UFR Médecine UPCité), Université Paris Cité (UPCité), Service NEUROSPIN (NEUROSPIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Inria Saclay - Ile de France, and Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)
Subjects: Male, Clinical Decision-Making, 030204 cardiovascular system & hematology, Machine learning, computer.software_genre, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Medicine, Acute ischemic stroke, Stroke, Aged, Ischemic Stroke, Retrospective Studies, Neuroradiology, Aged, 80 and over, business.industry, Penumbra, Brain, Original Articles, Middle Aged, Prognosis, medicine.disease, Patient management, Diffusion Magnetic Resonance Imaging, Neurology, Infarction, Reperfusion, Ischemic stroke, Female, Neurology (clinical), Artificial intelligence, Treatment decision making, Cardiology and Cardiovascular Medicine, Outcome prediction, business, computer, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: Machine Learning (ML) has been proposed for tissue fate prediction after acute ischemic stroke (AIS), with the aim to help treatment decision and patient management. We compared three different ML models to the clinical method based on diffusion-perfusion thresholding for the voxel-based prediction of final infarct, using a large MRI dataset obtained in a cohort of AIS patients prior to recanalization treatment. Baseline MRI (MRI0), including diffusion-weighted sequence (DWI) and Tmax maps from perfusion-weighted sequence, and 24-hr follow-up MRI (MRI24h) were retrospectively collected in consecutive 394 patients AIS patients (median age = 70 years; final infarct volume = 28mL). Manually segmented DWI24h lesion was considered the final infarct. Gradient Boosting, Random Forests and U-Net were trained using DWI, apparent diffusion coefficient (ADC) and Tmax maps on MRI0 as inputs to predict final infarct. Tissue outcome predictions were compared to final infarct using Dice score. Gradient Boosting had significantly better predictive performance (median [IQR] Dice Score as for median age, maybe you can replace the comma with an equal sign for consistency 0.53 [0.29–0.68]) than U-Net (0.48 [0.18–0.68]), Random Forests (0.51 [0.27–0.66]), and clinical thresholding method (0.45 [0.25–0.62]) ( P
Published: 2021
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6. MEK/ERK Signaling in β-Cells Bifunctionally Regulates β-Cell Mass and Glucose-Stimulated Insulin Secretion Response to Maintain Glucose Homeostasis

Author: Hiroshi Kobayashi, Jean Charron, Hiroki Mizukami, Hirotsugu Suwanai, Sho Osonoi, Naoki Kobayashi, Masafumi Muratani, Yoshiko Matsumoto Ikushima, Kohjiro Ueki, Yuichi Morimoto, Jun Adachi, Seiichi Takemiya, Motoharu Awazawa, Noriko Takahashi, and Kotaro Soeda
Subjects: Blood Glucose, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Type 2 diabetes, Diet, High-Fat, Exocytosis, Cell Line, Mice, Insulin-Secreting Cells, Internal medicine, Diabetes mellitus, Insulin Secretion, Internal Medicine, medicine, Animals, Homeostasis, Humans, Glucose homeostasis, Phosphorylation, Extracellular Signal-Regulated MAP Kinases, Mitogen-Activated Protein Kinase Kinases, geography, geography.geographical_feature_category, Chemistry, Insulin, medicine.disease, Islet, Pathophysiology, Mice, Inbred C57BL, Endocrinology, Signal Transduction
Abstract: In diabetic pathology, insufficiency in β-cell mass, unable to meet peripheral insulin demand, and functional defects of individual β-cells in production of insulin are often concurrently observed, collectively causing hyperglycemia. Here we show that the phosphorylation of ERK1/2 is significantly decreased in the islets of db/db mice as well as in those of a cohort of subjects with type 2 diabetes. In mice with abrogation of ERK signaling in pancreatic β-cells through deletion of Mek1 and Mek2, glucose intolerance aggravates under high-fat diet–feeding conditions due to insufficient insulin production with lower β-cell proliferation and reduced β-cell mass, while in individual β-cells dampening of the number of insulin exocytosis events is observed, with the molecules involved in insulin exocytosis being less phosphorylated. These data reveal bifunctional roles for MEK/ERK signaling in β-cells for glucose homeostasis, i.e., in regulating β-cell mass as well as in controlling insulin exocytosis in individual β-cells, thus providing not only a novel perspective for the understanding of diabetes pathophysiology but also a potential clue for new drug development for diabetes treatment.
Published: 2021
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7. Adolescent Latinas’ with Diabetes and Their Mothers’ Understanding of Diabetes and Reproductive Health: Converging Themes to Inform a Culturally Sensitive Preconception Counseling Program

Author: Robynn Zender, Ellen Olshansky, Frances M. Peterson-Burch, Dara H. Sorkin, Keirsten Montgomery, Hiba Abujaradeh, and Denise Charron-Prochownik
Subjects: Counseling, Adolescent, media_common.quotation_subject, Population, Mothers, Stigma (botany), Fertility, Human sexuality, Developmental psychology, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, 030225 pediatrics, Diabetes Mellitus, medicine, Humans, 030212 general & internal medicine, education, media_common, Reproductive health, education.field_of_study, business.industry, Hispanic or Latino, medicine.disease, Reproductive Health, Family planning, Family Planning Services, Pediatrics, Perinatology and Child Health, Female, Psychology, business, Dyad
Abstract: Introduction Latinas are at an increased risk for diabetes and reproductive health (RH) complications with sexuality and pregnancy. This study explored the understanding of diabetes related to RH, pregnancy, unplanned pregnancies, preconceptioncounseling, tight-control, and family planning among Latina adolescents with diabetes and their mothers and explored converging themes. Method The qualitative descriptive study used written open-ended questions (English or Spanish) with Latina mothers (n = 13) and daughters (n = 21). Responses were transcribed. Content analysis was used by four researchers who coded and discussed themes and reached consensus. Converging themes were confirmed using Atlas.ti software. Results Seven themes emerged from the mother–daughter dyad: communication (awkwardness, ambivalence, styles); control (being controlled vs. controlling); consequences (fertility, complications); planning (pregnancy, being healthy, life plan, RH); support; danger, risk, and safety; and stigma. Discussion Many mother–daughter dyads were not ready to discuss RH among themselves. Cultural and familial perspectives should be considered when providing care and preconception counseling to this population.
Published: 2021
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8. Identification of pannexin 1-regulated genes, interactome, and pathways in rhabdomyosarcoma and its tumor inhibitory interaction with AHNAK

Author: Kyle N. Cowan, Tommy Alain, Stephen Baird, Xiao Xiang, Stéphanie Langlois, Tyson E. Graber, Marie-Eve St-Pierre, Stephanie L. Fowler, Anna Blinder, Steffany A. L. Bennett, and Philippe Charron
Subjects: 0301 basic medicine, Proteomics, Cancer Research, genetic structures, Context (language use), Nerve Tissue Proteins, Biology, Interactome, Article, Connexins, Transcriptome, Paediatric cancer, 03 medical and health sciences, 0302 clinical medicine, Cell Movement, Cell Line, Tumor, Rhabdomyosarcoma, Exome Sequencing, Genetics, medicine, Humans, Protein Interaction Maps, RNA-Seq, Molecular Biology, Gene, Cell Proliferation, Gene knockdown, Membrane Proteins, Cell migration, Sarcoma, Pannexin, medicine.disease, Cell biology, Neoplasm Proteins, Gene Expression Regulation, Neoplastic, 030104 developmental biology, 030220 oncology & carcinogenesis
Abstract: Rhabdomyosarcoma (RMS), the most common soft tissue sarcoma in children, is an aggressive cancer with a poor prognosis. Despite current management, the 5-year survival rate for patients with metastatic RMS is ∼30%; underscoring the need to develop better treatment strategies. We have recently reported that pannexin 1 (PANX1) levels are downregulated in RMS and that restoring its expression inhibits RMS progression. Here, we have surveyed and characterized the molecular changes induced by PANX1 re-expression in RMS. We cataloged transcriptomic changes in this context by RNA sequencing. At the protein level, we unveiled PANX1 interactors using BioID, complemented by co-immunoprecipitation coupled to high-performance liquid chromatography/electrospray ionization tandem mass spectrometry performed in PANX1-enriched fractions. Using these data, we generated searchable public databases for the PANX1 interactome and changes to the RMS transcriptome occurring when PANX1 expression is restored. STRING network analyses revealed a PANX1 interactome involving plasma membrane and cytoskeleton-associated proteins including the previously undescribed interactor AHNAK. Indeed, AHNAK knockdown abrogated the PANX1-mediated reduction in RMS cell viability and migration. Using these unbiased approaches, we bring insight to the mechanisms by which PANX1 inhibits RMS progression, identifying the cell migration protein AHNAK as a key modifier of PANX1-mediated changes in RMS malignant properties.
Published: 2021

9. Cardiac hemodynamics in fetuses with transposition of the great arteries and intact ventricular septum from diagnosis to end of pregnancy: longitudinal follow‐up

Author: Marc Antoine Charron, Mathieu Dehaes, Marie-Josée Raboisson, Audrey Dionne, Matthias Lachaud, Ala Birca, and Myriam Brassard
Subjects: Heart Defects, Congenital, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Cardiac output, Transposition of Great Vessels, Diastole, Hemodynamics, Ventricular Septum, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Internal medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, Longitudinal Studies, 030212 general & internal medicine, Cardiac Output, Retrospective Studies, Fetus, 030219 obstetrics & reproductive medicine, Radiological and Ultrasound Technology, medicine.diagnostic_test, business.industry, Obstetrics and Gynecology, Gestational age, General Medicine, medicine.disease, Pulmonary hypertension, Echocardiography, Doppler, Color, Reproductive Medicine, Great arteries, embryonic structures, Cardiology, Female, business, Fetal echocardiography, Foramen Ovale
Abstract: OBJECTIVES Little is known about cardiac hemodynamics in the fetus with transposition of the great arteries and intact ventricular septum (TGA-IVS). Better understanding of the fetal physiology in TGA-IVS would help to provide insights into specific clinical complications observed after birth, in particular neonatal hypoxia and pulmonary hypertension. The aim of this study was to assess cardiac hemodynamics in fetuses with TGA-IVS by performing systematic longitudinal echocardiographic follow-up from diagnosis to delivery. METHODS This was a longitudinal retrospective study of fetuses referred between 2010 and 2018 to the Sainte-Justine University Hospital Centre. Complete assessment of cardiac hemodynamics was performed in fetuses with TGA-IVS at 18-22, 28-32 and 35-38 weeks' gestation, which were compared with normal fetuses matched for gestational age. The maximum diameter of the foramen ovale was measured using two-dimensional echocardiography under the guidance of color Doppler echocardiography. Fetal cardiac hemodynamics were analyzed according to postnatal preductal transcutaneous oxygen saturation (TcSO2 )
Published: 2021
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10. Sepsis at ICU admission does not decrease 30-day survival in very old patients : a post-hoc analysis of the VIP1 multinational cohort study

Author: Ibarz, Mercedes, Boumendil, Ariane, Haas, Lenneke E M, Irazabal, Marian, Flaatten, Hans, de Lange, Dylan W, Morandi, Alessandro, Andersen, Finn H, Bertolini, Guido, Cecconi, Maurizio, Christensen, Steffen, Faraldi, Loredana, Fjølner, Jesper, Jung, Christian, Marsh, Brian, Moreno, Rui, Oeyen, Sandra, Öhman, Christina Agwald, Bollen Pinto, Bernardo, Soliman, Ivo W, Szczeklik, Wojciech, Valentin, Andreas, Watson, Ximena, Zaferidis, Tilemachos, Guidet, Bertrand, Artigas, Antonio, Schmutz R, Wimmer F, Eller P, Joannidis M, De Buysscher P, De Neve N, Oeyen S, Swinnen W, Bollen Pinto B, Abraham P, Hergafi L, Schefold JC, Biskup E, Piza P, Taliadoros I, Fjølner J, Dey N, Sølling C, Rasmussen BS, Christensen S, Forceville X, Besch G, Mentec H, Michel P, Mateu P, Vettoretti L, Bourenne J, Marin N, Guillot M, Aissaoui N, Goulenok C, Thieulot-Rolin N, Messika J, Lamhaut L, Guidet B, Charron C, Lauten A, Sacher AL, Brenner T, Franz M, Bloos F, Ebelt H, Schaller SJ, Fuest K, Rabe C, Dieck T, Steiner S, Graf T, Nia AM, Jung C, Janosi RA, Meybohm P, Simon P, Utzolino S, Rahmel T, Barth E, Schuster M, Aidoni Z, Aloizos S, Tasioudis P, Lampiri K, Zisopoulou V, Ravani I, Pagaki E, Antoniou A, Katsoulas TA, Kounougeri A, Marinakis G, Tsimpoukas F, Spyropoulou A, Zygoulis P, Kyparissi A, Gupta M, Gurjar M, Maji IM, Hayes I, Marsh B, Kelly Y, Westbrook A, Fitzpatrick G, Maheshwari D, Motherway C, Negri G, Spadaro S, Nattino G, Pedeferri M, Boscolo A, Rossi S, Calicchio G, Cubattoli L, Di Lascio G, Barbagallo M, Berruto F, Codazzi D, Bottazzi A, Fumagalli P, Negro G, Lupi G, Savelli F, Vulcano GA, Fumagalli R, Marudi A, Lefons U, Lembo R, Babini M, Paggioro A, Parrini V, Zaccaria M, Clementi S, Gigliuto C, Facondini F, Pastorini S, Munaron S, Calamai I, Bocchi A, Adorni A, Bocci MG, Cortegiani A, Casalicchio T, Melia S, Graziani E, Barattini M, Brizio E, Rossi M, Hahn M, Flattens H, Kemmerer N, Streiter HF, Dybwik K, Legernaes T, Klepstad P, Olaussen EB, Olsen KI, Brresen OM, Bjorsvik G, Andersen FH, Maini S, Fehrle L, Czuczwar M, Krawczyk P, Ziętkiewicz M, Nowak ŁR, Kotfis K, Cwyl K, Gajdosz R, Biernawska J, Bohatyrewicz R, Gawda R, Grudzień P, Nasiłowski P, Popek N, Cyrankiewicz W, Wawrzyniak K, Wnuk M, Maciejewski D, Studzińska D, Żukowski M, Bernas S, Piechota M, Szczeklik W, Nowak-Kózka I, Fronczek J, Serwa M, Machała W, Stefaniak J, Wujtewicz M, Szymkowiak M, Adamik B, Polok K, Włudarczyk A, Górka J, Kozera N, Goździk W, Catorze N, Branco MC, Barros I, Barros N, Krystopchuk A, Honrado T, Sousa C, Munoz F, Rebelo M, Gomes R, Nunes J, Dias C, Fernandes AM, Petrisor C, Constantin B, Belskiy V, Boskholov B, Rodriguez E, Rebollo S, Aguilar G, Masdeu G, Jaimes MI, Mira ÁP, Bodi MA, Barea Mendoza JA, López-Cuenca S, Guzman MH, Rico-Feijoo J, Ibarz M, Alvarez JT, Kawati R, Sivik J, Nauska J, Smole D, Parenmark F, Lyrén J, Rockstrohm K, Rydén S, Spångfors M, Strinnholm M, Walther S, De Geer L, Nordlund P, Pålsson S, Zetterquist H, Nilsson A, Thiringer K, Jungner M, Bark B, Nordling B, Sköld H, Brorsson C, Persson S, Bergström A, Berkius J, Holmström J, van Dijk I, Haas LEM, Ramnarain D, Jansen T, Nooteboom F, van der Voort PHJ, de Lange D, Dieperink W, de Waard MC, de Smet AGE, Bormans L, Dormans T, Dempsey G, Mathew SJ, Raj AS, Grecu I, Cupitt J, Lawton T, Clark R, Popescu M, Spittle N, Faulkner M, Cowton A, Elloway E, Williams P, Reay M, Chukkambotla S, Kumar R, Al-Subaie N, Kent L, Tamm T, Kajtor I, Burns K, Pugh R, Ostermann M, Kam E, Bowyer H, Smith N, Templeton M, Henning J, Goffin K, Kapoor R, Laha S, Chilton P, Khaliq W, Crayford A, Coetzee S, Tait M, Stoker W, Gimenez M, Pope A, Camsooksai J, Pogson D, Quigley K, Ritzema J, Hormis A, Boulanger C, Balasubramaniam M, Vamplew L, Burt K, Martin D, Craig J, Prowle J, Doyle N, Shelton J, Scott C, Donnison P, Shelton S, Frey C, Ryan C, Spray D, Barnes V, Barnes K, Ridgway S, Saha R, Clark T, Wood J, Bolger C, Bassford C, Lewandowski J, Zhao X, Humphreys S, Dowling S, Richardson N, Burtenshaw A, Stevenson C, Wilcock D, Nalapko Y., Ibarz, M, Boumendil, A, Haas, L, Irazabal, M, Flaatten, H, de Lange, D, Morandi, A, Andersen, F, Bertolini, G, Cecconi, M, Christensen, S, Faraldi, L, Fjolner, J, Jung, C, Marsh, B, Moreno, R, Oeyen, S, Ohman, C, Bollen Pinto, B, Soliman, I, Szczeklik, W, Valentin, A, Watson, X, Zaferidis, T, Guidet, B, Artigas, A, Schmutz, R, Wimmer, F, Eller, P, Joannidis, M, De Buysscher, P, De Neve, N, Swinnen, W, Abraham, P, Hergafi, L, Schefold, J, Biskup, E, Piza, P, Taliadoros, I, Dey, N, Solling, C, Rasmussen, B, Forceville, X, Besch, G, Mentec, H, Michel, P, Mateu, P, Vettoretti, L, Bourenne, J, Marin, N, Guillot, M, Aissaoui, N, Goulenok, C, Thieulot-Rolin, N, Messika, J, Lamhaut, L, Charron, C, Lauten, A, Sacher, A, Brenner, T, Franz, M, Bloos, F, Ebelt, H, Schaller, S, Fuest, K, Rabe, C, Dieck, T, Steiner, S, Graf, T, Nia, A, Janosi, R, Meybohm, P, Simon, P, Utzolino, S, Rahmel, T, Barth, E, Schuster, M, Aidoni, Z, Aloizos, S, Tasioudis, P, Lampiri, K, Zisopoulou, V, Ravani, I, Pagaki, E, Antoniou, A, Katsoulas, T, Kounougeri, A, Marinakis, G, Tsimpoukas, F, Spyropoulou, A, Zygoulis, P, Kyparissi, A, Gupta, M, Gurjar, M, Maji, I, Hayes, I, Kelly, Y, Westbrook, A, Fitzpatrick, G, Maheshwari, D, Motherway, C, Negri, G, Spadaro, S, Nattino, G, Pedeferri, M, Boscolo, A, Rossi, S, Calicchio, G, Cubattoli, L, Di Lascio, G, Barbagallo, M, Berruto, F, Codazzi, D, Bottazzi, A, Fumagalli, P, Negro, G, Lupi, G, Savelli, F, Vulcano, G, Fumagalli, R, Marudi, A, Lefons, U, Lembo, R, Babini, M, Paggioro, A, Parrini, V, Zaccaria, M, Clementi, S, Gigliuto, C, Facondini, F, Pastorini, S, Munaron, S, Calamai, I, Bocchi, A, Adorni, A, Bocci, M, Cortegiani, A, Casalicchio, T, Melia, S, Graziani, E, Barattini, M, Brizio, E, Rossi, M, Hahn, M, Flattens, H, Kemmerer, N, Streiter, H, Dybwik, K, Legernaes, T, Klepstad, P, Olaussen, E, Olsen, K, Brresen, O, Bjorsvik, G, Maini, S, Fehrle, L, Krawczyk, P, Zietkiewicz, M, Nowak, L, Kotfis, K, Cwyl, K, Gajdosz, R, Biernawska, J, Bohatyrewicz, R, Gawda, R, Grudzien, P, Nasilowski, P, Popek, N, Cyrankiewicz, W, Wawrzyniak, K, Wnuk, M, Maciejewski, D, Studzinska, D, Zukowski, M, Bernas, S, Piechota, M, Nowak-Kozka, I, Fronczek, J, Serwa, M, Stefaniak, J, Wujtewicz, M, Szymkowiak, M, Adamik, B, Polok, K, Wludarczyk, A, Gorka, J, Kozera, N, Gozdzik, W, Catorze, N, Branco, M, Barros, I, Barros, N, Krystopchuk, A, Honrado, T, Sousa, C, Munoz, F, Rebelo, M, Gomes, R, Nunes, J, Dias, C, Fernandes, A, Petrisor, C, Constantin, B, Belskiy, V, Boskholov, B, Rodriguez, E, Rebollo, S, Aguilar, G, Masdeu, G, Jaimes, M, Mira, A, Bodi, M, Barea Mendoza, J, Lopez-Cuenca, S, Guzman, M, Rico-Feijoo, J, Alvarez, J, Kawati, R, Sivik, J, Nauska, J, Parenmark, F, Lyren, J, Rockstrohm, K, Ryden, S, Spangfors, M, Strinnholm, M, Walther, S, De Geer, L, Nordlund, P, Palsson, S, Zetterquist, H, Nilsson, A, Thiringer, K, Jungner, M, Bark, B, Nordling, B, Skold, H, Brorsson, C, Persson, S, Bergstrom, A, Berkius, J, Holmstrom, J, van Dijk, I, Ramnarain, D, Jansen, T, Nooteboom, F, van der Voort, P, Dieperink, W, de Waard, M, de Smet, A, Bormans, L, Dormans, T, Dempsey, G, Mathew, S, Raj, A, Grecu, I, Cupitt, J, Lawton, T, Clark, R, Popescu, M, Spittle, N, Faulkner, M, Cowton, A, Elloway, E, Williams, P, Reay, M, Chukkambotla, S, Kumar, R, Al-Subaie, N, Kent, L, Tamm, T, Kajtor, I, Burns, K, Pugh, R, Ostermann, M, Kam, E, Bowyer, H, Smith, N, Templeton, M, Henning, J, Goffin, K, Kapoor, R, Laha, S, Chilton, P, Khaliq, W, Crayford, A, Coetzee, S, Tait, M, Stoker, W, Gimenez, M, Pope, A, Camsooksai, J, Pogson, D, Quigley, K, Ritzema, J, Hormis, A, Boulanger, C, Balasubramaniam, M, Vamplew, L, Burt, K, Martin, D, Craig, J, Prowle, J, Doyle, N, Shelton, J, Scott, C, Donnison, P, Shelton, S, Frey, C, Ryan, C, Spray, D, Barnes, V, Barnes, K, Ridgway, S, Saha, R, Clark, T, Wood, J, Bolger, C, Bassford, C, Lewandowski, J, Zhao, X, Humphreys, S, Dowling, S, Richardson, N, Burtenshaw, A, Stevenson, C, Wilcock, D, Nalapko, Y, Ibarz, Mercede, Boumendil, Ariane, Haas, Lenneke E M, Irazabal, Marian, Flaatten, Han, de Lange, Dylan W, Morandi, Alessandro, Andersen, Finn H, Bertolini, Guido, Cecconi, Maurizio, Christensen, Steffen, Faraldi, Loredana, Fjølner, Jesper, Jung, Christian, Marsh, Brian, Moreno, Rui, Oeyen, Sandra, Öhman, Christina Agwald, Bollen Pinto, Bernardo, Soliman, Ivo W, Szczeklik, Wojciech, Valentin, Andrea, Watson, Ximena, Zaferidis, Tilemacho, Guidet, Bertrand, Artigas, Antonio, Schmutz R, Wimmer F, Eller P, Joannidis M, De Buysscher P, De Neve N, Oeyen S, Swinnen W, Bollen Pinto B, Abraham P, Hergafi L, Schefold JC, Biskup E, Piza P, Taliadoros I, Fjølner J, Dey N, Sølling C, Rasmussen BS, Christensen S, Forceville X, Besch G, Mentec H, Michel P, Mateu P, Michel P, Vettoretti L, Bourenne J, Marin N, Guillot M, Aissaoui N, Goulenok C, Thieulot-Rolin N, Messika J, Lamhaut L, Guidet B, Charron C, Lauten A, Sacher AL, Brenner T, Franz M, Bloos F, Ebelt H, Schaller SJ, Fuest K, Rabe C, Dieck T, Steiner S, Graf T, Nia AM, Jung C, Janosi RA, Meybohm P, Simon P, Utzolino S, Rahmel T, Barth E, Jung C, Schuster M, Aidoni Z, Aloizos S, Tasioudis P, Lampiri K, Zisopoulou V, Ravani I, Pagaki E, Antoniou A, Katsoulas TA, Kounougeri A, Marinakis G, Tsimpoukas F, Spyropoulou A, Zygoulis P, Kyparissi A, Gupta M, Gurjar M, Maji IM, Hayes I, Marsh B, Kelly Y, Westbrook A, Fitzpatrick G, Maheshwari D, Motherway C, Negri G, Spadaro S, Nattino G, Pedeferri M, Boscolo A, Rossi S, Calicchio G, Cubattoli L, Di Lascio G, Barbagallo M, Berruto F, Codazzi D, Bottazzi A, Fumagalli P, Negro G, Lupi G, Savelli F, Vulcano GA, Fumagalli R, Marudi A, Lefons U, Lembo R, Babini M, Paggioro A, Parrini V, Zaccaria M, Clementi S, Gigliuto C, Facondini F, Pastorini S, Munaron S, Calamai I, Bocchi A, Adorni A, Bocci MG, Cortegiani A, Casalicchio T, Melia S, Graziani E, Barattini M, Brizio E, Rossi M, Hahn M, Flattens H, Kemmerer N, Streiter HF, Dybwik K, Legernaes T, Klepstad P, Olaussen EB, Olsen KI, Brresen OM, Bjorsvik G, Andersen FH, Maini S, Fehrle L, Czuczwar M, Krawczyk P, Ziętkiewicz M, Nowak ŁR, Kotfis K, Cwyl K, Gajdosz R, Biernawska J, Bohatyrewicz R, Gawda R, Grudzień P, Nasiłowski P, Popek N, Cyrankiewicz W, Wawrzyniak K, Wnuk M, Maciejewski D, Studzińska D, Żukowski M, Bernas S, Piechota M, Szczeklik W, Nowak-Kózka I, Fronczek J, Serwa M, Machała W, Stefaniak J, Wujtewicz M, Szymkowiak M, Adamik B, Polok K, Włudarczyk A, Górka J, Kozera N, Goździk W, Catorze N, Branco MC, Barros I, Barros N, Krystopchuk A, Honrado T, Sousa C, Munoz F, Rebelo M, Gomes R, Nunes J, Dias C, Fernandes AM, Petrisor C, Constantin B, Belskiy V, Boskholov B, Rodriguez E, Rebollo S, Aguilar G, Masdeu G, Jaimes MI, Mira ÁP, Bodi MA, Barea Mendoza JA, López-Cuenca S, Guzman MH, Rico-Feijoo J, Ibarz M, Alvarez JT, Kawati R, Sivik J, Nauska J, Smole D, Parenmark F, Lyrén J, Rockstrohm K, Rydén S, Spångfors M, Strinnholm M, Walther S, De Geer L, Nordlund P, Pålsson S, Zetterquist H, Nilsson A, Thiringer K, Jungner M, Bark B, Nordling B, Sköld H, Brorsson C, Persson S, Bergström A, Berkius J, Holmström J, van Dijk I, Haas LEM, Ramnarain D, Jansen T, Nooteboom F, van der Voort PHJ, de Lange D, Dieperink W, de Waard MC, de Smet AGE, Bormans L, Dormans T, Dempsey G, Mathew SJ, Raj AS, Grecu I, Cupitt J, Lawton T, Clark R, Popescu M, Spittle N, Faulkner M, Cowton A, Elloway E, Williams P, Reay M, Chukkambotla S, Kumar R, Al-Subaie N, Kent L, Tamm T, Kajtor I, Burns K, Pugh R, Ostermann M, Kam E, Bowyer H, Smith N, Templeton M, Henning J, Goffin K, Kapoor R, Laha S, Chilton P, Khaliq W, Crayford A, Coetzee S, Tait M, Stoker W, Gimenez M, Pope A, Camsooksai J, Pogson D, Quigley K, Ritzema J, Hormis A, Boulanger C, Balasubramaniam M, Vamplew L, Burt K, Martin D, Grecu I, Craig J, Prowle J, Doyle N, Shelton J, Scott C, Donnison P, Shelton S, Frey C, Ryan C, Spray D, Ryan C, Barnes V, Barnes K, Ridgway S, Saha R, Kent L, Clark T, Wood J, Bolger C, Bassford C, Cowton A, Lewandowski J, Zhao X, Humphreys S, Dowling S, Richardson N, Burtenshaw A, Stevenson C, Wilcock D, Nalapko Y., Critical Care, and Critical care, Anesthesiology, Peri-operative and Emergency medicine (CAPE)
Subjects: INTENSIVE-CARE-UNIT, Survival, HSJ UCI, Critical Care and Intensive Care Medicine, survival analysis, law.invention, sepsis, Severity of illne, 0302 clinical medicine, LONG-TERM OUTCOMES, overlevingsanalyse, law, Medicine and Health Sciences, EPIDEMIOLOGY, Intensive care, Mortality, Outcome, Sepsis, Severity of illness, Very old, 030212 general & internal medicine, Prospective cohort study, ELDERLY-PATIENTS, ddc:617, PATIENTS AGED 80, lcsh:Medical emergencies. Critical care. Intensive care. First aid, Very Old, Intensive care unit, SOFA score, medicine.symptom, CRITICALLY-ILL PATIENTS, WITHDRAWAL, hormones, hormone substitutes, and hormone antagonists, medicine.medical_specialty, Sepsi, elderly patients, NO, 03 medical and health sciences, sterfte, Internal medicine, medicine, FRAILTY, business.industry, Septic shock, Research, SEPTIC SHOCK, Organ dysfunction, Intensive Care, 030208 emergency & critical care medicine, lcsh:RC86-88.9, oudere patiënten, medicine.disease, business
Abstract: BackgroundThe number of intensive care patients aged ≥ 80 years (Very old Intensive Care Patients; VIPs) is growing. VIPs have high mortality and morbidity and the benefits of ICU admission are frequently questioned. Sepsis incidence has risen in recent years and identification of outcomes is of considerable public importance. We aimed to determine whether VIPs admitted for sepsis had different outcomes than those admitted for other acute reasons and identify potential prognostic factors for 30-day survival.ResultsThis prospective study included VIPs with Sequential Organ Failure Assessment (SOFA) scores ≥ 2 acutely admitted to 307 ICUs in 21 European countries. Of 3869 acutely admitted VIPs, 493 (12.7%) [53.8% male, median age 83 (81–86) years] were admitted for sepsis. Sepsis was defined according to clinical criteria; suspected or demonstrated focus of infection and SOFA score ≥ 2 points. Compared to VIPs admitted for other acute reasons, VIPs admitted for sepsis were younger, had a higher SOFA score (9 vs. 7,p p p p = 0.02]. Frailty was similar in both groups. Unadjusted 30-day survival was not significantly different between the two groups. After adjustment for age, gender, frailty, and SOFA score, sepsis had no impact on 30-day survival [HR 0.99 (95% CI 0.86–1.15),p = 0.917]. Inverse-probability weight (IPW)-adjusted survival curves for the first 30 days after ICU admission were similar for acute septic and non-septic patients [HR: 1.00 (95% CI 0.87–1.17),p = 0.95]. A matched-pair analysis in which patients with sepsis were matched with two control patients of the same gender with the same age, SOFA score, and level of frailty was also performed. A Cox proportional hazard regression model stratified on the matched pairs showed that 30-day survival was similar in both groups [57.2% (95% CI 52.7–60.7) vs. 57.1% (95% CI 53.7–60.1),p = 0.85].ConclusionsAfter adjusting for organ dysfunction, sepsis at admission was not independently associated with decreased 30-day survival in this multinational study of 3869 VIPs. Age, frailty, and SOFA score were independently associated with survival.
Published: 2020

11. Saw-Tooth Cardiomyopathy

Author: Jérôme Garot, Philippe Charron, Flavie Ader, Lise Legrand, Julie Proukhnitzky, Céline Bordet, and Pascale Richard
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, ACMG, American College of Medical Genetics, saw-tooth cardiomyopathy, Cardiomyopathy, Case Report, LVNC, left ventricular noncompaction, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Clinical Case, CMR, cardiac magnetic resonance, left-ventricular noncompaction, medicine, Diseases of the circulatory (Cardiovascular) system, ventricular protrusions, BNP, brain natriuretic peptide, business.industry, medicine.disease, stomatognathic diseases, LV, left ventricle, RC666-701, muscular bridges, Left ventricular noncompaction, ECG, electrocardiogram, Presentation (obstetrics), Cardiology and Cardiovascular Medicine, business, cardiomyopathy, 030217 neurology & neurosurgery, Rare disease
Abstract: Saw-tooth cardiomyopathy is a very rare disease, and only few cases have been published since its first description 10 years ago. We report the clinical presentation, imaging features and genetic analysis of a saw-tooth cardiomyopathy and argues that it should not be confused with left-ventricular noncompaction. (Level of Difficulty: Intermediate.), Graphical abstract, Saw-tooth cardiomyopathy is a very rare disease, and only few cases have been published since its first description 10 years ago. We report the…
Published: 2020

12. Antioxidant Effects of N-Acetylcysteine Prevent Programmed Metabolic Disease in Mice

Author: Lyda Williams, Sandra E. Reznik, Scott A. Summers, Maureen J. Charron, Xiu Quan Du, Bhagirath Chaurasia, Ellen B. Katz, Yoshinori Seki, Patricia M Vuguin, and Alan Saghatelian
Subjects: Male, 0301 basic medicine, medicine.medical_specialty, Offspring, Adipose Tissue, White, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Adipose tissue, 030209 endocrinology & metabolism, White adipose tissue, Diet, High-Fat, Weight Gain, Antioxidants, Body Temperature, Mice, 03 medical and health sciences, 0302 clinical medicine, Insulin resistance, Adipose Tissue, Brown, Metabolic Diseases, Internal medicine, Brown adipose tissue, Internal Medicine, medicine, Animals, Adiposity, Inflammation, Adiponectin, business.industry, Insulin, Leptin, nutritional and metabolic diseases, food and beverages, Calorimetry, Indirect, Glucose Tolerance Test, medicine.disease, Acetylcysteine, Metabolism, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Female, Insulin Resistance, business, Injections, Intraperitoneal, hormones, hormone substitutes, and hormone antagonists
Abstract: An adverse maternal in utero environment can program offspring for increased risk for metabolic disease. The aim of this study was to determine whether N-acetylcysteine (NAC), an anti-inflammatory antioxidant, attenuates programmed susceptibility to obesity and insulin resistance in high fat diet (HFD) offspring. CD1 female mice were acutely fed a standard breeding chow or HFD. NAC was added to the drinking water (1g/kg) of the treatment cohorts from embryonic day 0.5 (e0.5) until the end of lactation. NAC treatment normalized HFD-induced maternal weight gain and oxidative stress, improved the maternal lipidome and prevented maternal leptin resistance. These favorable changes in the in utero environment normalized postnatal growth, decreased white adipose tissue (WAT) and hepatic fat, improved glucose and insulin tolerance and antioxidant capacity, reduced leptin and insulin and increased adiponectin in HFD offspring. The lifelong metabolic improvements in the offspring were accompanied by reductions in pro-inflammatory gene expression in liver and WAT and increased thermogenic gene expression in brown adipose tissue (BAT). These results, for the first time, provide a mechanistic rationale for how NAC can prevent the onset of metabolic disease in the offspring of mothers who consume a typical Western HFDs.
Published: 2020
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13. Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy

Author: Estelle Gandjbakhch, Pascale Richard, Céline Bordet, Laurent Martin, Sarah Grotto, Philippe Charron, Yves Alembik, Véronique Fressart, Hervé Gorka, Paul Fornes, Geoffroy Lorin de la Grandmaison, Caroline Rambaud, Gilles Millat, Isabelle Marey, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], Hôpital Raymond Poincaré [AP-HP], Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Hôpital Robert Debré Paris, Hôpital Robert Debré, Hôpital de Hautepierre [Strasbourg], Hospices Civils de Lyon (HCL), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Gestionnaire, Hal Sorbonne Université
Subjects: 0301 basic medicine, medicine.medical_specialty, Cardiomyopathy, sudden death, Autopsy, Disease, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 030204 cardiovascular system & hematology, 030105 genetics & heredity, Sudden death, genetic testing, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, medicine, post-mortem, Genetic testing, cardiac death, medicine.diagnostic_test, biology, business.industry, Conventional autopsy, De novo mutation, General Medicine, medicine.disease, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, 3. Good health, Transthyretin, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, Medicine, business, cardiomyopathy, Research Article
Abstract: Post-mortem genetic analyses may help to elucidate the cause of cardiac death. The added value is however unclear when a cardiac disease is already suspected or affirmed. Our aim was to study the feasibility and medical impact of post-mortem genetic analyses in suspected cardiomyopathy. We studied 35 patients with cardiac death and suspected cardiomyopathy based on autopsy or clinical data. After targeted sequencing, we identified 15 causal variants in 15 patients (yield 43%) in sarcomeric (n = 8), desmosomal (n = 3), lamin A/C (n = 3) and transthyretin (n = 1) genes. The results had various impacts on families, i.e. allowed predictive genetic testing in relatives (15 families), planned early therapeutics based on the specific underlying gene (5 families), rectified the suspected cardiomyopathy subtype (2 families), assessed the genetic origin of cardiomyopathy that usually has an acquired cause (1 family), assessed the diagnosis in a patient with uncertain borderline cardiomyopathy (1 family), reassured the siblings because of a de novo mutation (2 families) and allowed prenatal testing (1 family). Our findings suggest that post-mortem molecular testing should be included in the strategy of family care after cardiac death and suspected cardiomyopathy, since genetic findings provide additional information useful for relatives, which are beyond conventional autopsy.
Published: 2020
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14. Recommendations from an expert panel of health professionals regarding a gestational diabetes risk reduction intervention for American Indian/Alaska Native Teens

Author: Sandra Beirne, Denise Charron-Prochownik, Gale Marshall, Martha A. Terry, Kelly L. Gonzales, Kelly R. Moore, and Sarah Stotz
Subjects: Adult, Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Adolescent, Health Personnel, Endocrinology, Diabetes and Metabolism, education, Population, 030209 endocrinology & metabolism, Nuclear Family, Interviews as Topic, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Patient Education as Topic, Pregnancy, Intervention (counseling), Health care, Internal Medicine, medicine, Humans, 030212 general & internal medicine, Expert Testimony, Socioeconomic status, American Indian or Alaska Native, Reproductive health, education.field_of_study, business.industry, Focus Groups, Alaskan Natives, medicine.disease, Focus group, Mother-Child Relations, Primary Prevention, Gestational diabetes, Diabetes, Gestational, Adolescent Health Services, Family medicine, Practice Guidelines as Topic, Pregnancy in Adolescence, Pediatrics, Perinatology and Child Health, Indians, North American, Female, business, Risk Reduction Behavior, Adolescent health
Abstract: Background American Indian/Alaska Native (AI/AN) adolescents are at higher risk for gestational diabetes (GDM), type 2 diabetes, and pregnancy complications than the general population. Objective To inform cultural adaptation of a validated evidence-based intervention (VEBI) originally designed to deliver preconception counseling and diabetes education to non-AI/AN teens with diabetes. Design Qualitative data were collected using focus group and individual interview methods with health care professionals and experts (n = 16) in AI/AN health, GDM, adolescent health, and/or mother-daughter communication. A semistructured discussion guide elicited responses about provision of care for AI/AN girls at risk for GDM, experience with successful programs for AI/AN teens, comfort of mother/daughter dyads in talking about diabetes and reproductive health and reactions to video clips and booklet selections from the VEBI. All interviews were recorded and transcribed verbatim, and data analysis included inductive coding and identification of emergent themes. Results Providers felt teens and their moms would be comfortable talking about the VEBI topics and that teens who did not feel comfortable talking to their mom would likely rely on another adult female. Participants suggested including: AI/AN images/motifs, education with a community focus, and avoiding directive language. Concerns included: socioeconomic issues that affect AI/AN people such as: food and housing insecurity, abuse, and historical trauma. Conclusions Perspectives from these participants have been used to guide the development of a culturally tailored GDM risk reduction program for AI/AN girls. This program will be available to health care providers who serve the AI/AN population.
Published: 2020
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15. Plasma Levels of C-Type Lectin REG3α and Gut Damage in People With Human Immunodeficiency Virus

Author: L P Haraoui, P Rochette, E Beauchamp, M E Thériault, P J Maziade, M Duchastel, B Deligne, A Cloutier-Blais, S Massoud, E Sasseville, P Junod, Franck P. Dupuy, M Boissonnault, M Milne, Louise Labrecque, Claude Fortin, Marina B. Klein, S Lavoie, Ido P. Kema, N Z Miaki, Martel-Laferrière, Petronela Ancuta, Nicole F. Bernard, R Pilarski, A Hamel, Jean-Pierre Routy, A de Pokomandy, C Milne, F Asselin, Nikola Kokinov, S Dufresne, Aging Cohort Groups, Rayoun Ramendra, M E Goyer, Marie Munoz, Mohammad-Ali Jenabian, B Lessard, Benoit Trottier, Madeleine Durand, S Vézina, Stéphane Isnard, F Chano, M A Charron, Jan M. Friedman, Cécile Tremblay, Hal-Gagne, Bertrand Lebouché, M Poliquin, D Longpré, F Villielm, M E Turgeon, M Teltscher, Michael S Silverman, J P Kerba, Cecilia T. Costiniuk, J Cox, John Lin, L Charest, S Poulin, Peter L. Lakatos, E Huchet, Brandon Fombuena, Lifestyle Medicine (LM), and Guided Treatment in Optimal Selected Cancer Patients (GUTS)
Subjects: Adult, Lipopolysaccharides, Male, 0301 basic medicine, beta-Glucans, Anti-HIV Agents, CD4-CD8 Ratio, Lipopolysaccharide Receptors, HIV Infections, Pancreatitis-Associated Proteins, Chromosomal translocation, Inflammation, Fatty Acid-Binding Proteins, Major Articles and Brief Reports, 03 medical and health sciences, 0302 clinical medicine, C-type lectin, medicine, Humans, Immunology and Allergy, 030212 general & internal medicine, Intestinal Mucosa, Interleukin-6, Tumor Necrosis Factor-alpha, business.industry, Interleukins, Interleukin-8, Middle Aged, Viral Load, Antimicrobial, medicine.disease, Comorbidity, Epithelium, 3. Good health, Cross-Sectional Studies, 030104 developmental biology, Infectious Diseases, medicine.anatomical_structure, Bacterial Translocation, Immunology, Disease Progression, HIV-1, Female, medicine.symptom, business, Viral load, Biomarkers, CD8
Abstract: BackgroundRegenerating islet-derived protein 3α (REG3α) is an antimicrobial peptide secreted by intestinal Paneth cells. Circulating REG3α has been identified as a gut damage marker in inflammatory bowel diseases. People living with human immunodeficiency virus (PWH) on antiretroviral therapy (ART) present with an abnormal intestinal landscape leading to microbial translocation, persistent inflammation, and development of non-AIDS comorbidities. Herein, we assessed REG3α as a marker of gut damage in PWH.MethodsPlasma from 169 adult PWH, including 30 elite controllers (ECs), and 30 human immunodeficiency virus (HIV)–uninfected controls were assessed. REG3α plasma levels were compared with HIV disease progression, epithelial gut damage, microbial translocation, and immune activation markers.ResultsCross-sectionally, REG3α levels were elevated in untreated and ART-treated PWH compared with controls. ECs also had elevated REG3α levels compared to controls. Longitudinally, REG3α levels increased in PWH without ART and decreased in those who initiated ART. REG3α levels were inversely associated with CD4 T-cell count and CD4:CD8 ratio, while positively correlated with HIV viral load in untreated participants, and with fungal product translocation and inflammatory markers in all PWH.ConclusionsPlasma REG3α levels were elevated in PWH, including ECs. The gut inflammatory marker REG3α may be used to evaluate therapeutic interventions and predict non-AIDS comorbidity risks in PWH.
Published: 2020
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16. Multimodality imaging approach to left ventricular dysfunction in diabetes

Author: Gianluca Pontone, Magnus Bäck, Pál Maurovich-Horvat, Geneviève Derumeaux, Phillippe Charron, Stefan Neubauer, Erwan Donal, Patrizio Lancellotti, Bernard Cosyns, Eylem Levelt, Antti Saraste, Bogdan A. Popescu, Julien Magne, Thomas H. Marwick, Danilo Neglia, Jeroen J. Bax, Ivan Stankovic, Victoria Delgado, Marc R. Dweck, Sven Plein, Maurizio Galderisi, Philippe Bertrand, Niall G Keenan, Thor Edvardsen, Alessia Gimelli, Clinical sciences, Cardio-vascular diseases, Cardiology, Jonchère, Laurent, Baker Heart and Diabetes Institute (AUSTRALIA), Fondazione Toscana Gabriele Monasterio, University of Leeds, Leiden University, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Leiden University Medical Center (LUMC), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Università degli studi di Bari Aldo Moro = University of Bari Aldo Moro (UNIBA), University of Leicester, Semmelweis University of Medicine [Budapest], University of Oxford, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Turku, Universitair Ziekenhuis Brussel = University Hospital of Brussels (UZ Brussel), Oslo University Hospital [Oslo], University of Medicine and Pharmacy 'Carol Davila' Bucharest (UMPCD), Biomécanique cellulaire et respiratoire (BCR), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Università degli studi di Bari Aldo Moro (UNIBA), University of Oxford [Oxford], Universitair Ziekenhus Brussel (UZ Brussel), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases [IHU ICAN], Universiteit Leiden, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)
Subjects: medicine.medical_specialty, Consensus, Endocrinology, Diabetes and Metabolism, Diastole, heart failure, 030204 cardiovascular system & hematology, MECHANISMS, Pathogenesis, Ventricular Dysfunction, Left, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Fibrosis, Internal medicine, Diabetic cardiomyopathy, Diabetes mellitus, Diabetes Mellitus, medicine, diabetic cardiomyopathy, Humans, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, Subclinical infection, Cardioprotection, [SDV.IB] Life Sciences [q-bio]/Bioengineering, diabetes, business.industry, Microcirculation, General Medicine, medicine.disease, 3. Good health, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Heart failure, Cardiology, Screening, [SDV.IB]Life Sciences [q-bio]/Bioengineering, business, Cardiology and Cardiovascular Medicine
Abstract: Heart failure (HF) is among the most important and frequent complications of diabetes mellitus (DM). The detection of subclinical dysfunction is a marker of HF risk and presents a potential target for reducing incident HF in DM. Left ventricular (LV) dysfunction secondary to DM is heterogeneous, with phenotypes including predominantly systolic, predominantly diastolic, and mixed dysfunction. Indeed, the pathogenesis of HF in this setting is heterogeneous. Effective management of this problem will require detailed phenotyping of the contributions of fibrosis, microcirculatory disturbance, abnormal metabolism, and sympathetic innervation, among other mechanisms. For this reason, an imaging strategy for the detection of HF risk needs to not only detect subclinical LV dysfunction (LVD) but also characterize its pathogenesis. At present, it is possible to identify individuals with DM at increased risk HF, and there is evidence that cardioprotection may be of benefit. However, there is insufficient justification for HF screening, because we need stronger evidence of the links between the detection of LVD, treatment, and improved outcome. This review discusses the options for screening for LVD, the potential means of identifying the underlying mechanisms, and the pathways to treatment.
Published: 2022
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17. Multimodality imaging in the diagnosis, risk stratification, and management of patients with dilated cardiomyopathies: an expert consensus document from the European Association of Cardiovascular Imaging

Author: Donal E., Delgado V., Bucciarelli-Ducci C., Galli E., Haugaa K. H., Charron P., Voigt J. -U., Cardim N., Masci P. G., Galderisi M., Gaemperli O., Gimelli A., Pinto Y. M., Lancellotti P., Habib G., Elliott P., Edvardsen T., Cosyns B., Popescu B. A., Gerber B., Muraru D., Flachskampf F., Plein S., Neglia D., Cameli M., Weytjens C., Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], University of Bristol [Bristol], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Hôpital Ambroise Paré [AP-HP], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), University of Amsterdam [Amsterdam] (UvA), Hôpital de la Timone [CHU - APHM] (TIMONE), Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), University College of London [London] (UCL), Université de Médecine Carol Davila, National Institute on Handicapped Research, NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research, Bristol National Institute of Health Research, BRC, Clinical sciences, Cardio-vascular diseases, Cardiology, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), ACS - Heart failure & arrhythmias, Donal, E., Delgado, V., Bucciarelli-Ducci, C., Galli, E., Haugaa, K. H., Charron, P., Voigt, J. -U., Cardim, N., Masci, P. G., Galderisi, M., Gaemperli, O., Gimelli, A., Pinto, Y. M., Lancellotti, P., Habib, G., Elliott, P., Edvardsen, T., Cosyns, B., Popescu, B. A., Gerber, B., Muraru, D., Flachskampf, F., Plein, S., Neglia, D., Cameli, M., Weytjens, C., CHU Pitié-Salpêtrière [APHP], Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases [IHU ICAN], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Donal, E, Delgado, V, Bucciarelli-Ducci, C, Galli, E, Haugaa, K, Charron, P, Voigt, J, Cardim, N, Masci, P, Galderisi, M, Gaemperli, O, Gimelli, A, Pinto, Y, Lancellotti, P, Habib, G, Elliott, P, Edvardsen, T, Cosyns, B, Popescu, B, Gerber, B, Muraru, D, Flachskampf, F, Plein, S, Neglia, D, Cameli, M, and Weytjens, C
Subjects: Cardiac & Cardiovascular Systems, Disease, 030204 cardiovascular system & hematology, Multimodal Imaging, Coronary artery disease, 0302 clinical medicine, echocardiography, Cardiac magnetic resonance, Dilated cardiomyopathy, Echocardiography, Nuclear imaging, Prognosis, Treatment, 030212 general & internal medicine, EACVI/ASE/INDUSTRY TASK-FORCE, nuclear imaging, CARDIAC-RESYNCHRONIZATION THERAPY, treatment, Radiology, Nuclear Medicine & Medical Imaging, LATE GADOLINIUM ENHANCEMENT, Dilated cardiomyopathy, General Medicine, 3. Good health, Risk stratification, [SDV.IB]Life Sciences [q-bio]/Bioengineering, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, NATIVE VALVULAR REGURGITATION, Cardiomyopathy, Dilated, medicine.medical_specialty, Consensus, Prognosi, Context (language use), CARDIOLOGY WORKING GROUP, Risk Assessment, cardiac magnetic resonance, GLOBAL LONGITUDINAL STRAIN, Multimodality, 03 medical and health sciences, SPECKLE TRACKING ECHOCARDIOGRAPHY, medicine, Medical imaging, Humans, Radiology, Nuclear Medicine and imaging, Intensive care medicine, Science & Technology, business.industry, Expert consensus, LONG-TERM SURVIVAL, medicine.disease, SECONDARY MITRAL REGURGITATION, dilated cardiomyopathy, LEFT-VENTRICULAR DYSSYNCHRONY, Cardiovascular System & Cardiology, prognosis, business
Abstract: Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular or biventricular dilatation and systolic dysfunction in the absence of abnormal loading conditions or coronary artery disease sufficient to explain these changes. This is a heterogeneous disease frequently having a genetic background. Imaging is important for the diagnosis, the prognostic assessment and for guiding therapy. A multimodality imaging approach provides a comprehensive evaluation of all the issues related to this disease. The present document aims to provide recommendations for the use of multimodality imaging according to the clinical question. Selection of one or another imaging technique should be based on the clinical condition and context. Techniques are presented with the aim to underscore what is 'clinically relevant' and what are the tools that 'can be used'. There remain some gaps in evidence on the impact of multimodality imaging on the management and the treatment of DCM patients where ongoing research is important. ispartof: EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING vol:20 issue:10 pages:1075-1093 ispartof: location:England status: published
Published: 2019
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18. Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry

Author: Dor Lotan, Joel Salazar-Mendiguchía, Jens Mogensen, Faizan Rathore, Aris Anastasakis, Juan Kaski, Pablo Garcia-Pavia, Iacopo Olivotto, Philippe Charron, Elena Biagini, Anwar Baban, Giuseppe Limongelli, Waddah Ashram, Yishay Wasserstrum, Joseph Galvin, Esther Zorio, Attilio Iacovoni, Lorenzo Monserrat, Paolo Spirito, Maria Iascone, Michael Arad, Chana Mandel, Herminio Morillas, Esther Gonzalez-Lopez, Fernando Dominguez, Daniela Marchetti, Laura Pezzoli, Katie Anne Walsh, Catherine McGorrian, Raffaello Ditaranto, Giovanni Vitale, Eric Villard, Pascale Richard, Emanuele Monda, Martina Caiazza, Silvia Passantino, Francesca Girolami, Fabrizio Drago, Rachele Adorisio, Ella Field, Dov Freimark, Ulrik Baandrup, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CIC Pitié BT, Lotan, D., Salazar-Mendiguchia, J., Mogensen, J., Rathore, F., Anastasakis, A., Kaski, J., Garcia-Pavia, P., Olivotto, I., Charron, P., Biagini, E., Baban, A., Limongelli, G., Ashram, W., Wasserstrum, Y., Galvin, J., Zorio, E., Iacovoni, A., Monserrat, L., Spirito, P., Iascone, M., and Arad, M.
Subjects: Male, Pediatrics, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Cardiomyopathy, heart failure, Heart transplantation, 030204 cardiovascular system & hematology, Muscle hypertrophy, 0302 clinical medicine, Cause of Death, Danon disease, Registries, Child, 0303 health sciences, cardiomyopathie, Age Factors, General Medicine, Middle Aged, Glycogen Storage Disease Type IIb, 3. Good health, Europe, Treatment Outcome, Child, Preschool, Female, medicine.symptom, sex characteristics, hypertrophy, Arrhythmia, cardiomyopathies, Adult, medicine.medical_specialty, Adolescent, 03 medical and health sciences, Young Adult, metabolic, medicine, Humans, Myopathy, 030304 developmental biology, Aged, Heart Failure, business.industry, Myocardium, Infant, medicine.disease, Survival Analysis, Heart failure, business, Danon Disease
Abstract: Background: The X-linked Danon disease manifests by severe cardiomyopathy, myopathy, and neuropsychiatric problems. We designed this registry to generate a comprehensive picture of clinical presentations and outcome of patients with Danon disease in cardiomyopathy centers throughout Europe. Methods: Clinical and genetic data were collected in 16 cardiology centers from 8 European countries. Results: The cohort comprised 30 male and 27 female patients. The age at diagnosis was birth to 42 years in men and 2 to 65 in women. Cardiac involvement was observed in 96%. Extracardiac manifestations were prominent in men but not in women. Left ventricular (LV) hypertrophy was reported in 73% of male and 74% of female patients. LV systolic dysfunction was reported in 40% of men (who had LV ejection fraction, 34±11%) and 59% of women (LV ejection fraction, 28±13%). The risk of arrhythmia and heart failure was comparable among sexes. The age of first heart failure hospitalization was lower in men (18±6 versus 28±17 years; P Conclusions: Danon disease presents earlier in men than in women and runs a malignant course in both sexes, due to cardiac complications. Cardiomyopathy features, heart failure and arrhythmia, are similar among the sexes. Clinical diagnosis and management is extremely challenging in women due to phenotypic diversity and the absence of extracardiac manifestations.
Published: 2020
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19. Frailty is associated with long-term outcome in patients with sepsis who are over 80 years old: results from an observational study in 241 European ICUs

Author: Nigel White, Jenny Lord, Angela Prado Mira, Ala Khaled, Hubert Hymczak, Kristian Strand, Lenneke E M Haas, Mirosław Czuczwar, Lettie van den Berg, Pieter De Buysscher, Małgorzata Lipińska-Gediga, Simon Dubler, Michel Djibré, Ignacio Martin-Loeches, Georgina Randell, Diederik Gommers, Jose Maia, Patrick Meybohm, Wojciech Gola, Lina De Geer, Tom Lawton, Jonas Juul Pedersen, Isabel Amorim Ferreira, Kristina Fuest, Marcus Franz, McDonald Mupudzi, Kounougeri Aikaterini, Zoi Aidoni, Anastasia Koutsikou, Joakim Sivik, Hans Flaatten, Catia Cilloniz, Paweł Zatorski, Sally Humphreys, Henrik Westberg, Eva Rice, Peter de Jager, Helder Filipe, Stefania Brusa, Maria Faulkner, Jan Stefaniak, Cyril Charron, Nuno Candeias, Sten Walther, Nathalie Rolin, Muhammed Elhadi, Marta Serwa, Sebastian Allgäuer, Thomas Elkmann, Philipp Eller, Jean-Luc Chagnon, Gonzalo Navarro Velasco, Raimund Helbok, Catherine Motherway, Dorota Studzińska, Alan Pope, Ahmed Tarek, Cristina Sousa, Natalia Kozera, Michael Horacek, Camilla Brorsson, Tom Dormans, Nuno Catorze, Michael Joannidis, Andrea Neville Cracchiolo, Walter Swinnen, Oscar Hoiting, Africa Lores, Dominic Spray, Vladislav Belskiy, Marijana Mikačić, Rachel Savine, Tim Rahmel, Christoffer Sølling, Fredrik Schiöler, Henning Ebelt, Urszula Kościuczuk, Marek Pietruszko, Alexander D Cornet, Vasiiios Zidianakis, Bogdan Raitsiou, Ana Rita Santos, Nick Spittle Nick Spittle, Jan Peter Jensen, Alena Breidablik Alena Breidablik, Wojciech Szczeklik, Joerg C. Schefold, Karin Kleiven Thiringer, Alexandre Fernandes Pinto, Antoine Romen, Ingeborg D Welters, Nikolaas de Neve, Joanne Jones, Carole Boulanger, Ciaran Hart, Georgios Papathanakos, Jessica Nauska, Gaspar Eixarch, Pål Klepstad, Wesal Ali Belkhair, Ximena Watson, Brian Marsh, Emmanuel Guerot, Michael W. Schuster, Julie North, Bartosz Kudlinski, Alessandro Morandi, Stefan Schering, Fotios Tsimpoukas, Mercedes Ibarz, Ioannis Koutsodimitropoulos, Maurizio Cecconi, David Perez-Torres, Stephan Steiner, Agnieszka Kubisz-Pudelko, Johan Berkius, Phillipa Wakefield, Joanna Zorska, Anne-Karin Rime, Jacobo Bacariza Blanco, Reni Jacob, Guillaume Besch, Jane Evans, Mathilde Hummelmose Enevoldsen, Jasper Haringman, Xavier Valette, Pierre Garçon, Waldemar Cyrankiewicz, Megan Lea-Hagerty, Jason Cupitt, Yolanda Baird, Eberhard Barth, Stylliani Kourelea, Christine Cramer, Gerardo Aguilar, Christophe Vinsonneau, Maud Mousset Hovaere, Hans Frank Strietzel, Patricia Jimeno Cubero, René Schmutz, Aristide Morigi, Jonathan Ball, Raphael Romano Bruno, Kirsti Tøien, Ahmed Elhadi, Susan Dowling, Antonio Artigas, Aleksandra Biernacka, Clare Bolger, Italo Calamai, Dorthe Ørsnes, Giorgos Marinakis, Amy Collins, Leila Hergafi, Didier Thevenin, Michael Spivey, Bård E S Dahle, Willem Dieperink, Lucie Vettoretti, Vryza Konstantinia, Tasioudis Polychronis, Laura Ortiz-Ruiz De Gordoa, Julien Maizel, Louise Bell, Nicholas Love, Christian Frey, Joanna Solek-Pastuszka, Richard Pugh, Stefan J. Schaller, Hervé Mentec, Mercedes Ibarz Villamayor, Ritoo Kapoor, W. Khaliq, Gemma Gomà, Patrick Morgan, Finn H. Andersen, Madhu Balasubramaniam, Irina Grecu, Filippo Boroli, Saad Nseir, Mariusz Piechota, Ana M. Fernandes, Katarzyna Cwyl, Elli Niki Flioni, Jørund Langørgen, Kiran Salaunkey, Jean-Pierre Quenot, Philippe Burtin, Michael Reay, Ryszard Gawda, Ariane Boumendil, Anders Bastiansen, Hazem Ahmed, Evangelia Neou, Ihor Yovenko, Rik T Gerritsen, Bente Jannestad, Tarkeshwari Mane, Richard Innes, Kelly Tiercelet, Christian Jung, Rui Moreno, Maciej Zukowski, Dariusz Maciejewski, Dylan W. de Lange, Jeremy Henning, Paweł Nasiłowski, Estefania Prol-Silva, Tilemachos Zafeiridis, Lukasz J Krzych, Jérémy Rosman, Tobias Graf, Sonia López-Cuenca, Marcela Vizcaychipi, Jeremy Castaneray, Steve Rose, Vongayi Ogbeide, Arnaud Galbois, Yuriy Nalapko, Sandra Oeyen, Joke Nollet, Ismail Yıldız, Chris Read, Philippe Eckert, Ashok Raj, Anita Slapgard, Anna Kluzik, Mirosław Ziętkiewicz, Christian Rabe, Guillaume Savary, Noemí Llamas Fernández, João Teles Carvalho, Nikoletta Rovina, Jakob Edelberg Thomsen, Britt Sjøbøe, Andreas Husted, Jean-Philippe Rigaud, Bertrand Guidet, Piotr Galkin, Marián Irazábal Jaimes, Anders Sjöqvist, Paweł Sendur, Thorben Dieck, A. Vakalos, Enver Rodriguez, Jesper Fjølner, Eva van Boven, Inês Barros, Susannah Leaver, Patricia Williams, Messika Messika, Emilio Maseda, Michael Hahn, Teresa Tomasa, and Critical Care
Subjects: Aging, medicine.medical_specialty, intensive care units, 80 jaar en ouder, Comorbidity, frailty, elderly, law.invention, Sepsis, sepsis, 03 medical and health sciences, intensive care afdelingen, 0302 clinical medicine, law, Intensive care, kwetsbaarheid, sterfte, ouderen, medicine, 80 and over, Humans, 030212 general & internal medicine, Hospital Mortality, Prospective Studies, Prospective cohort study, business.industry, Mortality rate, Hazard ratio, 030208 emergency & critical care medicine, General Medicine, medicine.disease, Intensive care unit, mortality, aged, Emergency medicine, SOFA score, Geriatrics and Gerontology, business, aged, 80 and over
Abstract: Background Sepsis is one of the most frequent reasons for acute intensive care unit (ICU) admission of very old patients and mortality rates are high. However, the impact of pre-existing physical and cognitive function on long-term outcome of ICU patients ≥ 80 years old (very old intensive care patients (VIPs)) with sepsis is unclear. Objective To investigate both the short- and long-term mortality of VIPs admitted with sepsis and assess the relation of mortality with pre-existing physical and cognitive function. Design Prospective cohort study. Setting 241 ICUs from 22 European countries in a six-month period between May 2018 and May 2019. Subjects Acutely admitted ICU patients aged ≥80 years with sequential organ failure assessment (SOFA) score ≥ 2. Methods Sepsis was defined according to the sepsis 3.0 criteria. Patients with sepsis as an admission diagnosis were compared with other acutely admitted patients. In addition to patients’ characteristics, disease severity, information about comorbidity and polypharmacy and pre-existing physical and cognitive function were collected. Results Out of 3,596 acutely admitted VIPs with SOFA score ≥ 2, a group of 532 patients with sepsis were compared to other admissions. Predictors for 6-month mortality were age (per 5 years): Hazard ratio (HR, 1.16 (95% confidence interval (CI), 1.09–1.25, P 4): HR, 1.34 (95% CI, 1.18–1.51, P Conclusions There is substantial long-term mortality in VIPs admitted with sepsis. Frailty, age and disease severity were identified as predictors of long-term mortality in VIPs admitted with sepsis.
Published: 2021

20. Reducing risk for gestational diabetes among American Indian and Alaska Native teenagers: Tribal leaders’ recommendations

Author: Gale Marshall, Denise Charron-Prochownik, Sarah Stotz, Hiba Abujaradeh, Kelly R. Moore, and Martha A. Terry
Subjects: medicine.medical_specialty, Community education, Adolescent, Grounded theory, Article, Pregnancy, Health care, Medicine, Humans, CLIPS, American Indian or Alaska Native, computer.programming_language, business.industry, Stakeholder, Obstetrics and Gynecology, General Medicine, Focus Groups, medicine.disease, Alaskan Natives, Focus group, Gestational diabetes, Diabetes, Gestational, Family medicine, Indians, North American, Female, business, computer, Qualitative research
Abstract: OBJECTIVE: To elicit feedback from tribal leaders and American Indian/Alaska Native (AI/AN) health system administrators as a national stakeholder perspective to inform the development of a gestational diabetes mellitus (GDM) risk reduction and preconception counseling intervention for AI/AN teenagers at high risk for GDM. METHODS: A semi-structured focus group interview guide was developed by both principal investigators and qualitative methods experts. Using open-ended questions about the Reproductive-health Education and Awareness of Diabetes in Youth for Girls (READY-Girls) booklet and video clips, AI/AN health care system administrators and elected tribal leaders attending the 2015 National Indian Health Board Conference in Washington, DC, made recommendations on adaptation for an AI/AN audience. The focus group was recorded, transcribed verbatim, and analyzed by two researchers using an inductive coding technique with constant comparison method as supported by the grounded theory approach. RESULTS: Recommendations from the 12 participants included: (1) the best ways to communicate with AI/AN teenagers, (2) the importance of parental, family, and community education and engagement to support AI/AN teenagers in GDM risk reduction, and (3) building on traditional AI/AN cultural values and practices, while accommodating differences between tribes and regions. CONCLUSION: Findings from this focus group were used to inform the iterative development of a GDM risk reduction and preconception counseling intervention for AI/AN teenagers.
Published: 2021

21. Health-related quality of life and physical activity in children with inherited cardiac arrhythmia or inherited cardiomyopathy: the prospective multicentre controlled QUALIMYORYTHM study rationale, design and methods

Author: Constance Beyler, Victor Pommier, Marie Vincenti, Isabelle Denjoy-Urbain, Luc Souilla, Gregoire De La Villeon, Stefan Matecki, Sylvie Di Filippo, Alain Lacampagne, Pascal Amedro, Johanna Calderon, Jean-Benoit Thambo, Christophe Delclaux, Sophie Guillaumont, Vincent Probst, Aitor Guitarte, Oscar Werner, Marie-Christine Picot, Alban-Elouen Baruteau, Kathleen Lavastre, Yves Dulac, Philippe Charron, Aymeric Boisson, Damien Bonnet, Jean-Luc Pasquié, Hamouda Abassi, Anne Requirand, Philippe Chevalier, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut Saint-Pierre, Hôpital Robert Debré, Université Paris Cité (UPC), Paediatric and Congenital Cardiology Department, M3C Regional Reference Centre, Toulouse University Hospital, Toulouse, France, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Nantes (CHU Nantes), Université de Lyon, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] (CRCTB), Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), IHU-LIRYC, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux], Retiveau, Nolwenn, Institut de Génomique Fonctionnelle (IGF), Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Paris (UP), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and CHU Bordeaux [Bordeaux]-Université Bordeaux Segalen - Bordeaux 2
Subjects: Male, Pediatrics, [SDV]Life Sciences [q-bio], 030204 cardiovascular system & hematology, Study Protocol, 0302 clinical medicine, Quality of life, Genetic cardiomyopathy, 030212 general & internal medicine, Prospective Studies, Child, Brugada syndrome, education.field_of_study, Inherited cardiac arrhythmia, General Medicine, 3. Good health, Arrhythmogenic right ventricular dysplasia, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Female, Cardiomyopathies, medicine.medical_specialty, Adolescent, Long QT syndrome, Population, Computer applications to medicine. Medical informatics, R858-859.7, Catecholaminergic polymorphic ventricular tachycardia, 03 medical and health sciences, Oxygen Consumption, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, medicine, Humans, education, Physicala activity, Exercise, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, Physical activity, Public Health, Environmental and Occupational Health, Restrictive cardiomyopathy, Cardiac arrhythmia, Arrhythmias, Cardiac, Paediatrics, medicine.disease, Oxygen, Death, Sudden, Cardiac, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business
Abstract: BackgroundAdvances in paediatric cardiology have improved the prognosis of children with inherited cardiac disorders. However, health-related quality of life (QoL) and physical activity have been scarcely analysed in children with inherited cardiac arrhythmia or inherited cardiomyopathy. Moreover, current guidelines on the eligibility of young athletes with inherited cardiac disorders for sports participation mainly rely on expert opinions and remain controversial.MethodsThe QUALIMYORYTHM trial is a multicentre observational controlled study. The main objective is to compare the QoL of children aged 6 to 17 years old with inherited cardiac arrhythmia (long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, or arrhythmogenic right ventricular dysplasia), or inherited cardiomyopathy (hypertrophic, dilated, or restrictive cardiomyopathy), to that of age and gender-matched healthy subjects. The secondary objective is to assess their QoL according to the disease’s clinical and genetic characteristics, the level of physical activity and motivation for sports, the exercise capacity, and the socio-demographic data. Participants will wear a fitness tracker (ActiGraph GT3X accelerometer) for 2 weeks. A total of 214 children are required to observe a significant difference of 7 ± 15 points in the PedsQL, with a power of 90% and an alpha risk of 5%.DiscussionAfter focusing on the survival in children with inherited cardiac disorders, current research is expanding to patient-reported outcomes and secondary prevention. The QUALIMYORYTHM trial intends to improve the level of evidence for future guidelines on sports eligibility in this population.Trial registrationClinicalTrials.gov Identifier: NCT04712136, registered on January 15th, 2021 (https://clinicaltrials.gov/ct2/show/NCT04712136).
Published: 2021
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22. Giving up on everything: a case and review of pervasive refusal syndrome

Author: Jordan Ho and Brynn Petras Charron
Subjects: Psychotherapist, Pervasive refusal syndrome, medicine, medicine.disease, Psychology
Abstract: We present a case of pervasive refusal syndrome (PRS), in which a 11-year-old female patient refused to eat, drink, interact, or self-care in any way. The patient was kept on IV nutrition and multiple therapeutic options were tried to no effect. After 18 months, the patient spontaneously recovered with no lasting harm, and her symptoms did not recur. We further discuss the current state of clinical knowledge on PRS, as well as the form that has appeared amongst children in asylum-seeking families in Sweden.
Published: 2020
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23. Sleep in Parental Caregivers and Children With Type 1 Diabetes

Author: Linda M. Siminerio, Christine A. Feeley, Denise Charron-Prochownik, Radhika Muzumdar, Susan M. Sereika, Eileen R. Chasens, and Pushpa Viswanathan
Subjects: Adult, Male, Parents, Pediatrics, medicine.medical_specialty, Nursing (miscellaneous), Pilot Projects, Diabetes mellitus, medicine, Humans, Child, Type 1 diabetes, business.industry, Actigraphy, medicine.disease, Sleep in non-human animals, Cross-Sectional Studies, Diabetes Mellitus, Type 1, Caregivers, Anxiety, Female, Sleep diary, Sleep onset, medicine.symptom, Sleep, business, Sleep duration
Abstract: The purpose of this cross-sectional, descriptive, pilot study was to examine the correlations in sleep between caregivers (≥18 years) and young (6–12 years) children with type 1 diabetes. Sleep was measured in both parent and child over 7 days using actigraphy and a sleep diary. Parents completed questionnaires on sleep, stress, depressive symptoms, and demographics. Children completed pediatric anxiety and fatigue questionnaires, and A1C (Hemoglobin A1c) was documented at clinic. Descriptive statistics and Pearson correlations were used to analyze data. Parents ( N = 18, mean age: 39.3 ± 5.4 years, 100% Caucasian, 83% mothers) and children ( N = 18, mean age: 9.6 ± 2.4 years, diagnosed for mean 3.0 ± 2.4 years, 66% female, mean A1C: 7.5 ± 0.8%) were recruited. Strong to moderate correlations were found for several measures including sleep measures based on actigraphy: mean sleep duration (hours; 7.6 ± 0.7 for parents and 8.8 ± 0.8 for children; r = .638, p = .004), mean sleep efficiency ( r = .823, p < .001), and mean daily wake after sleep onset (minutes; r = .530, p = .024).
Published: 2019
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24. FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations

Author: Ader, Flavie, De Groote, Pascal, Réant, Patricia, Rooryck-Thambo, Caroline, Dupin-Deguine, Delphine, Rambaud, Caroline, Khraiche, Diala, Perret, Claire, Pruny, Jean François, Mathieu-Dramard, Michele, Gérard, Marion, Troadec, Yann, Gouya, Laurent, Jeunemaitre, Xavier, Van Maldergem, Lionel, Hagège, Albert, Villard, Eric, Charron, Philippe, Richard, Pascale, Rooryck‐Thambo, Caroline, Dupin‐Deguine, Delphine, Mathieu‐Dramard, Michèle, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Sorbonne Université (SU), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris Descartes - Paris 5 (UPD5), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Adaptation cardiovasculaire à l'ischemie, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Service de génétique médicale, CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Stress Abiotiques et Différenciation des Végétaux Cultivés (SADV), Université de Lille, Sciences et Technologies-Institut National de la Recherche Agronomique (INRA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Therapie Cellulaire en Pathologie Cardio-Vasculaire (UMR_S 633), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), gerard, marion, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Service Génétique Médicale [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut National de la Recherche Agronomique (INRA)-Université de Lille, Sciences et Technologies, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Chrono-environnement - UFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Université de Montréal - UdeM (CANADA), Université de Montréal (UdeM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Centre de Génétique Moléculaire et Chromosomique du GH Pitié-Salpêtrière-CHU Pitié-Salpêtrière [APHP], CHU Pitié-Salpêtrière [APHP], Département de cardiologie, CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], Service d'Anatomie Pathologique et Médecine Légale, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital Raymond Poincaré [Garches], Génétique épidémiologique et moléculaire des pathologies cardiovasculaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), Consultation Marfan, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bichat, Université Paris Descartes - Paris 5 (UPD5)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de cardiologie [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Paris - UFR Sciences Fondamentales et Biomédicales [Sciences], Université de Paris (UP), Hôpital Raymond Poincaré [AP-HP], Service de cardiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de cardiologie [CHU Pitié-Salpêtrière], CIC - CHU Bichat, Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université de Franche-Comté (UFC), and Université Bourgogne Franche-Comté [COMUE] (UBFC)
Subjects: Male, cardiomyopathies, 0301 basic medicine, Genotype-phenotype correlation, Genotype, Filamins, Cardiomyopathy, [SDV.GEN] Life Sciences [q-bio]/Genetics, 030105 genetics & heredity, Sudden cardiac death, Electrocardiography, 03 medical and health sciences, Prevalence, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Genetic Testing, FLNC, Indel, Alleles, Genetic Association Studies, Genetics (clinical), next generation sequencing, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Genetic Variation, High-Throughput Nucleotide Sequencing, Dilated cardiomyopathy, Sequence Analysis, DNA, medicine.disease, Magnetic Resonance Imaging, Phenotype, Pedigree, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Echocardiography, Mutation, Female, business, myopathy
Abstract: International audience; Pathogenic variants in FLNC encoding filamin C have been firstly reported to cause myopathies, and were recently linked to isolated cardiac phenotypes. Our aim was to estimate the prevalence of FLNC pathogenic variants in subtypes of cardiomyopathies and to study the relations between phenotype and genotype. DNAs from a cohort of 1150 unrelated index-patients with isolated cardiomyopathy (700 hypertrophic, 300 dilated, 50 restrictive cardiomyopathies, and 100 left ventricle non-compactions) have been sequenced on a custom panel of 51 cardiomyopathy disease-causing genes. An FLNC pathogenic variant was identified in 28 patients corresponding to a prevalence ranging from 1% to 8% depending on the cardiomyopathy subtype. Truncating variants were always identified in patients with dilated cardiomyopathy, while missense or in-frame indel variants were found in other phenotypes. A personal or family history of sudden cardiac death (SCD) was significantly higher in patients with truncating variants than in patients carrying missense variants (P = .01). This work reported the first observation of a left ventricular non-compaction associated with a unique probably causal variant in FLNC which highlights the role of FLNC in cardiomyopathies. A correlation between the nature of the variant and the cardiomyopathy subtype was observed as well as with SCD risk.
Published: 2019
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25. Optimal 4DFlow MR sequence parameters for the assessment of internal carotid artery stenosis: a simulation study

Author: Myriam Edjlali, Catherine Oppenheim, Pauline Roca, Marie-Pierre Gobin-Metteil, Joseph Benzakoun, Victoria Cavero, Olivier Naggara, David Calvet, Sylvain Charron, Stéphanie Lion, and Jean-François Meder
Subjects: Adult, Male, Systole, Sensitivity and Specificity, Magnetic resonance angiography, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, symbols.namesake, Imaging, Three-Dimensional, 0302 clinical medicine, Reference Values, Risk Factors, medicine, Humans, Carotid Stenosis, Computer Simulation, Radiology, Nuclear Medicine and imaging, Internal carotid artery stenosis, Stroke, Image resolution, Aged, Neuroradiology, medicine.diagnostic_test, Cardiac cycle, business.industry, Hemodynamics, Middle Aged, medicine.disease, Stenosis, Ultrasonography, Doppler, Pulsed, symbols, Female, Neurology (clinical), Cardiology and Cardiovascular Medicine, business, Nuclear medicine, Doppler effect, Blood Flow Velocity, Carotid Artery, Internal, Magnetic Resonance Angiography, 030217 neurology & neurosurgery
Abstract: In patients with ICA stenosis, increased peak systolic velocity is a marker of stenosis at risk of ischemic stroke. 4DFlow MRI is a reproducible technique to evaluate velocities in ICA stenosis, although it seems to underestimate velocities as compared with Doppler ultrasonography. The purpose of our study was to confirm that velocities were underestimated on a new set of data acquired with a clinical 4DFlow sequence, and to devise optimal acquisition parameters for ICA stenosis exploration based on a numerical simulation. After review board approval, 15 healthy controls and 12 patients presenting ICA stenosis were explored with Doppler ultrasonography and 4DFlow MRI. We created a 2-dimensional simulation of ICA stenosis and its corresponding 4DFlow acquisition, and compared its mean peak systolic velocity underestimation to real MRI and Doppler. We then simulated the acquisition for voxel size ranging from 0.5 to 1.25 mm and number of phases per cardiac cycle ranging from 10 to 25. On acquired data, 4DFlow MR underestimated peak systolic velocities (mean difference between Doppler and 4DFlow: − 35 cm/s), especially high velocities. With spatial and temporal resolutions equivalent to MR acquisition, our simulation yielded similar underestimation (mean difference: − 31 cm/s, P = 0.30). Simulations showed that 0.7-mm resolution and 20 phases per cardiac cycle would be necessary to record peak systolic velocities up to 250 cm/s. Higher spatial resolution can provide accurate peak systolic velocities measurement with 4DFlow MRI, thus allowing better ICA stenosis assessment. Further studies are needed to validate the proposed parameters.
Published: 2019
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26. Sexual activity after treatment for head and neck cancer: the experience of survivors

Author: Natalie Paul, M. Elise Radina, Jessie I. Sellers, Elizabeth Charron, and Bethany A. Rhoten
Subjects: Oncology, medicine.medical_specialty, business.industry, Internal medicine, Head and neck cancer, medicine, General Medicine, medicine.disease, business, After treatment
Published: 2019
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27. Cardiovascular clusters in septic shock combining clinical and echocardiographic parameters: a post hoc analysis

Author: Stein Silva, Philippe Vignon, Xavier Repessé, Anne-Laure Fedou, Guillaume Geri, Cyril Charron, Alix Aubry, and Antoine Vieillard-Baron
Subjects: Male, medicine.medical_specialty, Organ Dysfunction Scores, Fluid responsiveness, CIRCULATORY FAILURE, Hemodynamics, Critical Care and Intensive Care Medicine, Statistics, Nonparametric, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Anesthesiology, Hypovolemia, Post-hoc analysis, Research Letter, medicine, Humans, Prospective Studies, Aged, Simplified Acute Physiology Score, Acute respiratory distress syndrome, Septic shock, business.industry, Doppler, COVID-19, Stroke Volume, 030208 emergency & critical care medicine, Middle Aged, medicine.disease, Shock, Septic, Influenza, Intensive Care Units, 030228 respiratory system, Echocardiography, Initial phase, Cardiology, Female, medicine.symptom, business, Human
Abstract: Mechanisms of circulatory failure are complex and frequently intricate in septic shock. Better characterization could help to optimize hemodynamic support. Two published prospective databases from 12 different ICUs including echocardiographic monitoring performed by a transesophageal route at the initial phase of septic shock were merged for post hoc analysis. Hierarchical clustering in a principal components approach was used to define cardiovascular phenotypes using clinical and echocardiographic parameters. Missing data were imputed. A total of 360 patients (median age 64 [55; 74]) were included in the analysis. Five different clusters were defined: patients well resuscitated (cluster 1, n = 61, 16.9%) without left ventricular (LV) systolic dysfunction, right ventricular (RV) failure or fluid responsiveness, patients with LV systolic dysfunction (cluster 2, n = 64, 17.7%), patients with hyperkinetic profile (cluster 3, n = 84, 23.3%), patients with RV failure (cluster 4, n = 81, 22.5%) and patients with persistent hypovolemia (cluster 5, n = 70, 19.4%). Day 7 mortality was 9.8%, 32.8%, 8.3%, 27.2%, and 23.2%, while ICU mortality was 21.3%, 50.0%, 23.8%, 42.0%, and 38.6% in clusters 1, 2, 3, 4, and 5, respectively (p
Published: 2019
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28. Determinants of Initial Antibiotic Duration in Very Low Birth Weight Neonates

Author: Alexandra C. Charron, Barbara B. Warner, Mike A. Carl, Christopher McPherson, and Jason G. Newland
Subjects: 0301 basic medicine, Microbiology (medical), medicine.medical_specialty, Neonatal intensive care unit, Birth weight, 030106 microbiology, Population, lcsh:Infectious and parasitic diseases, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, lcsh:RC109-216, 030212 general & internal medicine, education, Early onset sepsis, Original Research, Very low birth weight infants, Antibiotic stewardship, education.field_of_study, business.industry, Gestational age, Retrospective cohort study, medicine.disease, Low birth weight, Infectious Diseases, Necrotizing enterocolitis, Apgar score, medicine.symptom, business
Abstract: Introduction Very low birth weight (VLBW) neonates ( 5 days) increases an infant’s risk for necrotizing enterocolitis, late onset sepsis, colonization or infection with resistant organisms, and death. The aim of this study is to describe clinical and laboratory factors that influence the length of initial antibiotic courses in VLBW neonates. Methods Demographics, perinatal factors, and neonatal clinical and laboratory data were compared in a single-center retrospective cohort of VLBW neonates who received ≤ 3 days versus > 5 days of initial antibiotics. Results A total of 121 patients were analyzed of which 117 (97%) were started on antibiotics empirically on admission, and 71 (59%) received ≤ 3 days and 50 (41%) received > 5 days of antibiotics. One (0.8%) infant had a positive blood culture (S. oralis). Demographics [gestational age (p
Published: 2019
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29. Risky sexual behaviors in adolescents and young adult women with type 1 diabetes: An overlooked problem

Author: Ethel Codner, Franco Giraudo, Denise Charron-Prochownik, Abraham I.J. Gajardo, Ismael Valdés, and Ignacio Lalanne
Subjects: Parents, Health Knowledge, Attitudes, Practice, Adolescent, Endocrinology, Diabetes and Metabolism, Sexual Behavior, Glycemic Control, Sex education, Health Risk Behaviors, Young Adult, Pregnancy, Diabetes mellitus, Internal Medicine, medicine, Humans, Young adult, Chile, Contraception Behavior, Reproductive health, Glycemic, Type 1 diabetes, business.industry, medicine.disease, Cross-Sectional Studies, Diabetes Mellitus, Type 1, Reproductive Health, Sexual behavior, Adolescent Behavior, Pediatrics, Perinatology and Child Health, Pregnancy in Adolescence, Female, business, Demography
Abstract: Background The presence of unprotected sex activity in women living with type 1 diabetes (T1D) who have insufficient glycemic control should be considered as a specific risky behavior. Objective To evaluate risky behaviors, including unprotected sexual activity, sources of information and knowledge related to reproductive health in adolescents and young adult women with T1D (PwT1D) compared to a group of adolescents and young adult women without diabetes (Comparison group). Methods PwT1D andthe Comparison group completed a questionnaire with validated measures that assessed reproductive health. Results PwT1D (n= 115, age= 17.7 ± 3.2 years) and Comparison group (n= 386, age= 18.3 ± 2.9) were recruited. The proportion of women reporting having sex without any contraceptive was similar in both groups (57.1 and 50%, in PwT1D and Comparison group, respectively). The use of non-effective contraceptive was reported in 63.2 and 63.6% of the PwT1D and Comparison group, respectively. Among PwT1D, parents, formal sex education and friends were the primary source of information on reproductive health. Low levels of knowledge about diabetes and pregnancy were observed in PwT1D. HbA1c level was associated with having at least one sexual activity without any contraception (OR= 1.63, p= 0.039). Conclusions PwT1D have similar rates of risky behaviors compared to a Comparisongroup.Sexual risky behaviors should be especially considered in PwT1D with glycemic control above the optimal level. Parents are an important source of reproductive health information for PwT1D.Use of effective contraception should be reinforced in sexually active PwT1D. This article is protected by copyright. All rights reserved.
Published: 2021

30. 56-LB: The Mediating Role of Shared Responsibility in the Relationship of Trait Mindfulness and Diabetes-Related Outcomes

Author: Susan M. Sereika, Monica DiNardo, Pushpa Viswanathan, Hiba Abujaradeh, Denise Charron-Prochownik, and Christine A. Feeley
Subjects: Mediation (statistics), Mindfulness, Endocrinology, Diabetes and Metabolism, Psychological intervention, people.profession, medicine.disease, Diabetes mellitus, Internal Medicine, medicine, Trait, Pediatric Nurse Practitioner, Shared responsibility, Association (psychology), Psychology, people, Clinical psychology
Abstract: In youth with T1D, mindfulness and parental involvement (i.e., shared responsibility) of diabetes self-management (DSM) behaviors are associated with positive diabetes-related outcomes. This study explored the mediating role of shared responsibility in the relationship of mindfulness with DSM and A1c. A cross-sectional study was conducted among 129 adolescents aged 12-18 years with T1D at a tertiary medical center. Adolescents completed a survey on mindfulness (Child Acceptance & Mindfulness Measure), shared responsibility (Diabetes Family Responsibility Questionnaire-Short) and DSM (Self-care Inventory). A1c was obtained from medical records. The PROCESS SPSS macro by Hayes (v3.5) was used to assess mediation. Unstandardized and standardized path coefficients (β), SE, p-value, and 10,000 bias-corrected bootstraps 95% CI reported. Results: Mindfulness had positive significant association with shared responsibility (a-path=0.974, SE=.045, β=.189, R2=.036, p=.032). Shared responsibility had significant association with DSM (b-path=0.055, SE=.017, β=.275, p=.0015). The direct (c’) and total (c) relationships between mindfulness and DSM were significant (c’=0.198, SE=.087, β=.193, p=.024; c=.251, SE=.088, β=.245, R2=.06, p=.005). The relationship between mindfulness and DSM was partially mediated by shared responsibility (ab=0.053, SE=0.031 bias-corrected bootstrapped 95% CI = [0.0059, 0.0119]). For the second mediational model, neither mindfulness nor shared responsibility was associated with A1c (p>.05). Mindfulness and shared responsibility had positive association with DSM but not A1c. Shared responsibility partially mediated the relationship between mindfulness and DSM, whereby youth with higher levels of trait mindfulness had greater shared responsibility and better DSM. Temporal inferences should be interpreted with caution. Interventions targeting both mindfulness and shared responsibility should be explored. Disclosure H. Abujaradeh: None. P. Viswanathan: None. S. M. Sereika: None. M. M. DiNardo: None. C. A. Feeley: None. D. Charron-Prochownik: None. Funding National Association of Pediatric Nurse Practitioners; Eta Chapter-Sigma Research Award; Swigart/Gold Doctoral Student Award; J. Wiggins Scholarship
Published: 2021
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31. 487-P: Exploring the Research Experiences of American Indian Mother/Daughter Dyads and Site Coordinators after a GDM Risk Reduction and Preconception Counseling Randomized Controlled Trial

Author: Sarah Stotz, Nancy O’Banion, Laura J. Chalmers, Denise Charron-Prochownik, Martha A. Terry, Andrea F. Fischl, Kelly R. Moore, and Heather Garrow
Subjects: Pregnancy, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Nursing research, medicine.disease, Focus group, law.invention, Gestational diabetes, Randomized controlled trial, Quality time, law, Family planning, Family medicine, Internal Medicine, Medicine, business, Reproductive health
Abstract: Gestational diabetes mellitus (GDM) is the most common complication of pregnancy and contributes to increased risk for T2D in both the mother and offspring. American Indians are at higher risk of GDM and subsequent diagnosis of T2D than non-Hispanic white women. This project examined the experiences of American Indian mother-daughter (M-D) dyads as participants and the site coordinators who facilitated a GDM risk reduction and preconception counseling randomized controlled trial (RCT) to evaluate Stopping GDM (SGDM). The SGDM RCT included 4 visits over 9 months which dyads attended together but completed SGDM intervention (video and eBook) and questionnaires separately. SGDM content included GDM risk reduction (e.g., healthy nutrition), GDM risk awareness/health beliefs, preconception counseling, reproductive health communication, and family planning. For this study, dyads (n=22 dyads) were recruited from three of the five study sites and site coordinators from all sites participated (n=6). Mothers, daughters, and site coordinators were in separate focus groups. Focus groups were facilitated by trained qualitative researchers, conducted/recorded remotely using Zoom, transcribed verbatim, and analyzed using qualitative content analysis and Atlas.ti. Themes include: 1) SGDM provided valuable quality time and conversation about GDM and reproductive health among dyads; 2) GDM risk factors and risk reduction was largely new information for most dyads; 3) all sites experienced challenges to study engagement and recruitment; 4) recommendations for study improvement: personalized recruitment that is clinic-based and mother-focused; remote/asynchronous study visits; and significantly shorter content. These findings will be used to inform revisions of SGDM to improve the program and for a broader, more inclusive version of the program for other at-risk females. Disclosure S. A. Stotz: None. A. F. Fischl: None. M. A. Terry: None. H. Garrow: None. N. O’banion: None. L. Chalmers: None. K. R. Moore: None. D. Charron-prochownik: None. Funding National Institutes of Health (UL1TR001857 to D.C-P.); National Institute of Nursing Research (1R01NR014831-01A1 to D.C-P., K.R.M.)
Published: 2021
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32. 465-P: Applying the Ancestral Knowledge System Framework to Interviews with Key Stakeholders Regarding a Gestational Diabetes Mellitus Risk Reduction and Reproductive Health Planning Program for American Indian Adolescent Females

Author: Denise Charron-Prochownik, Kelly R. Moore, Andrea F. Fischl, Kelly L. Gonzales, Marjorie K. Mau, Reni Soon, and Sarah Stotz
Subjects: Gestational diabetes, Reduction (complexity), Gerontology, business.industry, Endocrinology, Diabetes and Metabolism, Internal Medicine, Key (cryptography), Medicine, System framework, business, medicine.disease, Reproductive health
Abstract: Gestational Diabetes Mellitus (GDM) is the most common complication of pregnancy and potentially causes problemsfor both mother and baby, including risks of developing type 2 diabetes (T2D). Compared to other Americans, Indigenous youth have more risk factors and higher rates of GDM. We developed Stopping GDM a GDM risk reduction and reproductive health program for American Indian adolescent females. To further deepen the cultural strengths of the program we draw on constructs from Indigenous ways of knowing, such as Ancestral Knowledge System (AKS). We conducted a secondary analysis on an existing qualitative dataset collected during the Stopping GDM study using AKS as a secondary framework. Key constructs from AKS include: relationships, place-based knowledge, generational networks, holistic approaches, language, cultural heritage, and critical reflection. This dataset includes focus groups with AI adolescent girls (age 12-20) (n=13); their adult female caregivers (n=9); and AI women with a history of GDM or T2D (n=5) from two urban sites. All focus groups were moderated by a trained qualitative researcher with a notetaker and semi-structured moderator guide and analyzed using Atlas.ti. Four primary themes supported by the AKS framework constructs emerged: 1) the important and unique role of women in Native communities; 2) traditional ways as they relate to women, reproductive health, and wellness; 3) support for women’s wellness and reproduction; 4) social determinants as challenges for Indigenous communities in promoting healthy behaviors. These findings will be used to support expansion of Stopping GDM to increase its cultural relevance for a broader Indigenous priority audience which includes Native Hawaiian and Alaska Native communities. Disclosure D. Charron-prochownik: None. R. Soon: None. S. A. Stotz: None. A. F. Fischl: None. K. L. Gonzales: None. M. Mau: None. K. R. Moore: None. Funding National Institutes of Health (UL1TR001857 to D.C-P.); National Institute of Nursing Research (1R01NR014831-01A1 to D.C-P., K.R.M.)
Published: 2021
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33. Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

Author: Magdalena Harakalova, Benjamin Meder, Philippe Charron, Manuel Gómez-Bueno, Jorg J. A. Calis, François Cambien, David-Alexandre Trégouët, Maurizia Grasso, Steven McGinn, Uwe Völker, Thomas Meitinger, Stefan Weiss, L. Duboscq-Bidot, Richard Dorent, Vera Regitz-Zagrosek, Folkert W. Asselbergs, Hélène Blanché, Olivier Dubourg, Patrick Lacolley, Pierre Boutouyrie, Delphine Bacq-Daian, Vincent Fontaine, Volker Ruppert, Marine Germain, K Lehnert, Jean-Noël Trochu, Stuart A. Cook, Angélique Curjol, Brendan J. Keating, Ibticem Raji, Anne Boland, J. Erdmann, Michael Morley, Jean-François Aupetit, Paloma Remior, Luigi Tavazzi, Gérard Roizès, Michal Mokry, Konstantin Strauch, Richard Isnard, Jean-Philippe Empana, Robert Olaso, Kenneth B. Marguiles, Zofia T. Bilińska, Stephan B. Felix, Marcus Dörr, Thomas P. Cappola, Stefan Blankenberg, Jan Haas, Céline Besse, Jean-François Deleuze, Christine E. Seidman, Christian Hengstenberg, Jessica van Setten, Hakon Hakonarson, Sanjay K Prasad, Daiane Hemerich, Pascal de Groote, Thomas Wichter, Alain van Mil, Michel Komajda, Renee Maas, Carole Proust, Declan P. O'Regan, Xavier Jouven, Ganapathi Varma Saripella, Georgios Kararigas, Eloisa Arbustini, Jin Li, Klaus Stark, Laurent Fauchier, Flavie Ader, Melanie Waldenberger, Martina Müller-Nurasyid, Eric Villard, Sophie Garnier, Cardiology, Imperial College Healthcare NHS Trust- BRC Funding, British Heart Foundation, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Cardiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Centre hospitalier Saint-Joseph [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique-Hôpitaux de Paris, Fondation Leducq, Société Française de Cardiologie, Deutsche Forschungsgemeinschaft, Helmholtz Zentrum München, Université de Bordeaux, Medical Research Council, ANR-10-LABX-0013,GENMED,Medical Genomics(2010), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University Medical Center [Utrecht], Universität Greifswald - University of Greifswald, German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], University of Pennsylvania, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), National Heart Centre Singapore (NHCS), Children’s Hospital of Philadelphia (CHOP ), University of Regensburg, Royal Brompton Hospital, Imperial College London, Istituti Clinici Scientifici Maugeri [Pavia] (IRCCS Pavia - ICS Maugeri), Helmholtz Zentrum München = German Research Center for Environmental Health, Ludwig-Maximilians-Universität München (LMU), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), University Medical Center of the Johannes Gutenberg-University Mainz, Perelman School of Medicine, Harvard Medical School [Boston] (HMS), University of Iceland [Reykjavik], Heidelberg University, Stanford University Medical School, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Universität zu Lübeck = University of Lübeck [Lübeck], Universitätklinikum Gießen und Marburg GmbH, Maria Cecilia Hospital [Cotignola], Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Hôpital cardiologique, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Centre hospitalier Saint Joseph - Saint Luc [Lyon], National Institute of Cardiology [Varsovie, Pologne], University of Medicine Greifswald, Centre de Référence Maladies Cardiaques Héréditaires, Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Laboratory of Excellence GENMED [Paris] (Medical Genomics), Hospital Universitario Puerta de Hierro-Majadahonda [Madrid, Spain], Swedish University of Agricultural Sciences (SLU), Centre d'Etude du Polymorphisme Humain (CEPH), Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset-Université Paris Cité (UPCité), Faculté de Pharmacie de Paris - Université Paris Descartes (UPD5 Pharmacie), Université Paris Descartes - Paris 5 (UPD5), Groupe Hospitalier Paris Saint Joseph, Fondation Jean Dausset - Centre d’Etudes du Polymorphisme Humain [Paris] (CEPH), and University College of London [London] (UCL)
Subjects: Cardiac & Cardiovascular Systems, Cardiomyopathy, Dilated/genetics, [SDV]Life Sciences [q-bio], Signal Transducing/genetics, Dilated cardiomyopathy, Genome-wide association study, Adaptor Proteins, Signal Transducing/genetics, 030204 cardiovascular system & hematology, TAURINE, 0302 clinical medicine, GWAS, Medicine, POSITION STATEMENT, 1102 Cardiorespiratory Medicine and Haematology, Genetics, 0303 health sciences, education.field_of_study, Genetic Predisposition to Disease/genetics, Adaptor Proteins, 4C-sequencing, Polymorphism, Single Nucleotide/genetics, Genetic risk score, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, Single Nucleotide/genetics, Cardiomyopathy, Dilated, Cardiomyopathy, Population, Locus (genetics), Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Chromosomes, 03 medical and health sciences, Systolic/genetics, Heart Failure, Systolic/genetics, SNP, Animals, Humans, Genetic Predisposition to Disease, Allele, Polymorphism, education, Imputation, Adaptor Proteins, Signal Transducing, 030304 developmental biology, Heart Failure, Science & Technology, business.industry, WORKING GROUP, 1103 Clinical Sciences, medicine.disease, Genetic architecture, Cardiovascular System & Hematology, Dilated/genetics, Cardiovascular System & Cardiology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, Apoptosis Regulatory Proteins, Heart Failure, Systolic, Genome-Wide Association Study
Abstract: Aims Our objective was to better understand the genetic bases of dilated cardiomyopathy (DCM), a leading cause of systolic heart failure. Methods and results We conducted the largest genome-wide association study performed so far in DCM, with 2719 cases and 4440 controls in the discovery population. We identified and replicated two new DCM-associated loci on chromosome 3p25.1 [lead single-nucleotide polymorphism (SNP) rs62232870, P = 8.7 × 10−11 and 7.7 × 10−4 in the discovery and replication steps, respectively] and chromosome 22q11.23 (lead SNP rs7284877, P = 3.3 × 10−8 and 1.4 × 10−3 in the discovery and replication steps, respectively), while confirming two previously identified DCM loci on chromosomes 10 and 1, BAG3 and HSPB7. A genetic risk score constructed from the number of risk alleles at these four DCM loci revealed a 3-fold increased risk of DCM for individuals with 8 risk alleles compared to individuals with 5 risk alleles (median of the referral population). In silico annotation and functional 4C-sequencing analyses on iPSC-derived cardiomyocytes identify SLC6A6 as the most likely DCM gene at the 3p25.1 locus. This gene encodes a taurine transporter whose involvement in myocardial dysfunction and DCM is supported by numerous observations in humans and animals. At the 22q11.23 locus, in silico and data mining annotations, and to a lesser extent functional analysis, strongly suggest SMARCB1 as the candidate culprit gene. Conclusion This study provides a better understanding of the genetic architecture of DCM and sheds light on novel biological pathways underlying heart failure.
Published: 2021
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34. Trait Mindfulness and Mindfulness Practices in Adolescents with Type 1 Diabetes: Descriptive and Comparative Study

Author: Brian M. Galla, Christine A. Feeley, Pushpa Viswanathan, Susan M. Sereika, Monica DiNardo, Susan M. Cohen, Denise Charron-Prochownik, and Hiba Abujaradeh
Subjects: Insulin pump, Type 1 diabetes, Mindfulness, Demographics, Adolescent, Medical record, Health Behavior, medicine.disease, Chronic disorders, Diabetes Mellitus, Type 1, Surveys and Questionnaires, Pediatrics, Perinatology and Child Health, medicine, Trait, Humans, Psychology, Glycemic, Clinical psychology
Abstract: Study describes mindfulness (trait and practices) and compares levels of trait mindfulness (low/high) and practices (yes/no) on demographic, clinical characteristics, and diabetes-related outcomes among adolescents with type 1 diabetes (T1D).Adolescents completed a survey on demographics, clinical data, trait mindfulness/practices, diabetes-specific stress, and diabetes self-management (DSM). Glycemic control (A1c) obtained from medical records. T and χ129 adolescents (12-18 years) reported moderately high levels of mindfulness (31 ± 8; range, 10-40). One-third (30%) reported having experience with mindfulness practices (formal, informal, and religious). Adolescents who reported higher levels of trait mindfulness had higher insulin pump usage (p =.005), less diabetes-specific stress (p.001), greater DSM (p =.006), and less A1c (p =.013). Adolescents who reported more types of mindfulness practices had greater DSM scores.Adolescents with higher levels of trait mindfulness and with more types of mindfulness practices had better diabetes-related outcomes. Introducing mindfulness training tailored to adolescents with T1D should be examined.
Published: 2021

35. PedsQL™ Gastroparesis Symptoms Module Domain and Item Development

Author: Mariella M. Self, Robert J. Shulman, Kent C. Williams, Bruno P. Chumpitazi, Rachel Rosen, Sam Nurko, Liz Febo-Rodriguez, Heather Charron, and James W. Varni
Subjects: Parents, medicine.medical_specialty, Gastroparesis, Psychometrics, Nausea, media_common.quotation_subject, MEDLINE, Article, Quality of life, Surveys and Questionnaires, medicine, Content validity, Humans, Child, Qualitative Research, media_common, business.industry, Gastroenterology, Reproducibility of Results, Heartburn, medicine.disease, Pediatrics, Perinatology and Child Health, Quality of Life, Physical therapy, medicine.symptom, Worry, business, Qualitative research
Abstract: OBJECTIVES: Like adults, children suffer from gastroparesis. However, there are currently no validated instruments to determine the impact of gastroparesis in pediatric patients. The objective of this study was to develop the items and domains to support the content validity of the new Pediatric Quality of Life Inventory (PedsQL(™)) Gastroparesis Symptoms Module. METHODS: Patients were recruited from the National Institute of Diabetes and Digestive and Kidney Diseases Pediatric Gastroparesis Registry. The qualitative methods involved an iterative process comprising a literature review of existing questionnaires and gastroparesis clinical research, an expert review panel of pediatric gastroenterologists who provided feedback on the conceptual framework in developing the semi-structured interview, and in-depth focus interviews with six pediatric patients with gastroparesis and five of their parents (one did not participate) in developing relevant domains and item content. In the subsequent cognitive interviews phase, five additional patients with gastroparesis and their parents provided detailed feedback on item content, relevance, importance, and understandability of the domains and items. RESULTS: Ten domains/scales were derived from the qualitative methods, with item content saturation achieved at 67 items, with no further themes or content identified during the final cognitive interviews. The Module is comprised of 10 individual scales measuring nausea, stomach fullness when eating, vomiting, dry heaves, heartburn and reflux, stomach pain and hurt, food and drink limits, bloating, appetite, and worry. CONCLUSIONS: Our study supports the content validity of the new PedsQL(™) Gastroparesis Symptoms Module. The Module field test study will be conducted in a multisite national study.
Published: 2021
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36. Development of an unannounced standardized patient protocol to evaluate opioid use disorder treatment in pregnancy for American Indian and rural communities

Author: Jacob D Baylis, Shayla Archer, Amy Binns-Calvey, Lori Begaye, Elizabeth Charron, Marcela C. Smid, Saul J. Weiner, A. Taylor Kelley, and Gerald Cochran
Subjects: Rural Population, Medicine (General), medicine.medical_specialty, Unannounced standardized patients, Population, Context (language use), Access to care, Prenatal care, 01 natural sciences, 03 medical and health sciences, Study Protocol, R5-920, 0302 clinical medicine, Social pathology. Social and public welfare. Criminology, Pregnancy, Health care, medicine, Opiate Substitution Treatment, Humans, 030212 general & internal medicine, 0101 mathematics, education, HV1-9960, American Indian or Alaska Native, education.field_of_study, business.industry, Public health, 010102 general mathematics, Quality of care, Opioid use disorder, General Medicine, medicine.disease, Opioid-Related Disorders, Rural health care, Buprenorphine, Health psychology, Family medicine, Female, Rural area, business
Abstract: Background Opioid use disorder (OUD) disproportionately impacts rural and American Indian communities and has quadrupled among pregnant individuals nationwide in the past two decades. Yet, limited data are available about access and quality of care available to pregnant individuals in rural areas, particularly among American Indians (AIs). Unannounced standardized patients (USPs), or “secret shoppers” with standardized characteristics, have been used to assess healthcare access and quality when outcomes cannot be measured by conventional methods or when differences may exist between actual versus reported care. While the USP approach has shown benefit in evaluating primary care and select specialties, its use to date for OUD and pregnancy is very limited. Methods We used literature review, current practice guidelines for perinatal OUD management, and stakeholder engagement to design a novel USP protocol to assess healthcare access and quality for OUD in pregnancy. We developed two USP profiles—one white and one AI—to reflect our target study area consisting of three rural, predominantly white and AI US counties. We partnered with a local community health center network providing care to a large AI population to define six priority outcomes for evaluation: (1) OUD treatment knowledge among clinical staff answering telephones; (2) primary care clinic facilitation and provision of prenatal care and buprenorphine treatment; (3) appropriate completion of evidence-based screening, symptom assessment, and initial steps in management; (4) appropriate completion of risk factor screening/probing about individual circumstances that may affect care; (5) patient-directed tone, stigma, and professionalism by clinic staff; and (6) disparities in care between whites and American Indians. Discussion The development of this USP protocol tailored to a specific environment and high-risk patient population establishes an innovative approach to evaluate healthcare access and quality for pregnant individuals with OUD. It is intended to serve as a roadmap for our own study and for future related work within the context of substance use disorders and pregnancy.
Published: 2021

37. Carpal tunnel syndrome secondary to neoplastic space-occupying lesion

Author: Brynn Petras Charron and Tony Jung
Subjects: musculoskeletal diseases, body regions, business.industry, Medicine, Anatomy, Space-occupying lesion, business, Carpal tunnel syndrome, medicine.disease
Abstract: This article presents a previously reported case of a 66-year-old woman with a mass on the volar aspect of her right wrist and a one-month history of right wrist pain. The importance of considering a wide range of causes for carpal tunnel syndrome when assessing a patient with persistent wrist pain and an associated mass is highlighted. The differential diagnosis of space-occupying lesions should include benign and malignant neoplastic etiologies in addition to non-neoplastic etiologies. The clinical features, diagnostic methods, and management options for a patient with carpal tunnel syndrome are presented and key distinctions between conventional and secondary carpal tunnel syndrome are discussed. Lipomas, schwannomas, and synovial sarcomas are discussed to showcase different neoplastic causes that may present as secondary carpal tunnel syndrome with an associated wrist mass as seen in this case.
Published: 2021
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38. Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Author: Antonio de Marvao, Roddy Walsh, Jean-Claude Tardif, R. Thomas Lumbers, Eric Villard, Rafik Tadros, Peter Lichtner, Catherine Francis, Julie Amyot, Michelle Michels, Hugh Watkins, Julia Cadrin-Tourigny, Najim Lahrouchi, Rudolf A. de Boer, Patrick Garceau, Karin J. H. Verweij, Paul M. Matthews, Paul Elliott, S. Matthijs Boekholdt, Folkert W. Asselbergs, Declan P. O'Regan, Benjamin Meder, Joost A. Offerhaus, Nicola Whiffin, Jacco C. Karper, Jason D. Roberts, Marie-Pierre Dubé, Hideaki Suzuki, James S. Ware, Yigal M. Pinto, Thomas Meitinger, Guillaume Lettre, Hannah G. van Velzen, Arthur A.M. Wilde, Marjon van Slegtenhorst, Francesco Mazzarotto, Wouter P. te Rijdt, Paul J.R. Barton, Sanjay K Prasad, A. John Baksi, Michael W.T. Tanck, Mario Talajic, Roy Huurman, J. Peter van Tintelen, Connie R. Bezzina, Antonis Pantazis, Robert A. Hegele, Jentien M Vermeulen, Rachel Buchan, Imke Christiaans, Jan H. Veldink, Edgar T. Hoorntje, Elham Kayvanpour, Pascale Richard, Geneviève Giraldeau, Flavie Ader, Andrew Thain, Philippe L. L’Allier, Xiao Xu, Leander Beekman, David McCarty, Alexa M.C. Vermeer, Geraldine Sloane, Wenjia Bai, Andrew R. Harper, Jolanda van der Velden, Stuart A. Cook, Ken Kelu Bisabu, Philippe Charron, Deborah Schneider-Luftman, Human Genetics, ACS - Heart failure & arrhythmias, Cardiology, Adult Psychiatry, APH - Mental Health, ANS - Complex Trait Genetics, ANS - Compulsivity, Impulsivity & Attention, ANS - Mood, Anxiety, Psychosis, Stress & Sleep, ACS - Amsterdam Cardiovascular Sciences, Epidemiology and Data Science, APH - Methodology, ACS - Atherosclerosis & ischemic syndromes, Human genetics, Physiology, Cardiovascular Centre (CVC), Clinical Genetics, Wellcome Trust, Department of Health, British Heart Foundation, Engineering & Physical Science Research Council (EPSRC), UK DRI Ltd, The Academy of Medical Sciences, and Imperial College Healthcare NHS Trust- BRC Funding
Subjects: Linkage disequilibrium, Cardiomyopathy, Dilated/genetics, Left, Cardiomyopathy, Genome-wide association study, Kaplan-Meier Estimate, VARIANTS, Ventricular Function, Left, Linkage Disequilibrium, 0302 clinical medicine, Gene Frequency, Dilated, Ventricular Function, 11 Medical and Health Sciences, Cardiomyopathy, Hypertrophic/genetics, Genetics & Heredity, 0303 health sciences, HERITABILITY, Single Nucleotide, MENDELIAN RANDOMIZATION, Cardiology, cardiovascular system, HEART, Life Sciences & Biomedicine, Ventricular Function, Left/genetics, Cardiomyopathy, Dilated, medicine.medical_specialty, Heart Ventricles, Quantitative Trait Loci, Biology, Quantitative trait locus, Sudden death, Polymorphism, Single Nucleotide, Article, Heart Ventricles/physiopathology, 03 medical and health sciences, Internal medicine, Mendelian randomization, Genetics, medicine, Humans, Genetic Predisposition to Disease, cardiovascular diseases, GENOME-WIDE ASSOCIATION, Polymorphism, 030304 developmental biology, Genetic association, Science & Technology, Hypertrophic/genetics, Left/genetics, Case-control study, CONTRACTILITY, 06 Biological Sciences, Cardiomyopathy, Hypertrophic, medicine.disease, Hypertrophic, Dilated/genetics, Case-Control Studies, Genome-Wide Association Study, 030217 neurology & neurosurgery, Developmental Biology
Abstract: The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young, otherwise healthy, individuals. We conducted genome-wide association studies and multi-trait analyses in HCM (1,733 cases), DCM (5,521 cases) and nine left ventricular (LV) traits (19,260 UK Biobank participants with structurally normal hearts). We identified 16 loci associated with HCM, 13 with DCM and 23 with LV traits. We show strong genetic correlations between LV traits and cardiomyopathies, with opposing effects in HCM and DCM. Two-sample Mendelian randomization supports a causal association linking increased LV contractility with HCM risk. A polygenic risk score explains a significant portion of phenotypic variability in carriers of HCM-causing rare variants. Our findings thus provide evidence that polygenic risk score may account for variability in Mendelian diseases. More broadly, we provide insights into how genetic pathways may lead to distinct disorders through opposing genetic effects.
Published: 2021
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39. Prevalence and burden of obstructive lung disease in the urban poor population of Ottawa, Canada: a community-based mixed-method, observational study

Author: Ted Bignell, Robert W. Boyd, Nina Huynh, Sadia Jama, Tetyana Kendzerska, Joanne Haddad, Smita Pakhale, Margaret Ella Bustamante-Bawagan, Catherine Charron, Fozia Nur, Gonzalo G. Alvarez, Saania Tariq, Tina Kaur, and Kelly Florence
Subjects: medicine.medical_specialty, Canada, Urban Population, Population, Vulnerable Populations, 03 medical and health sciences, Social determinants of health, 0302 clinical medicine, Quality of life (healthcare), Environmental health, Epidemiology, medicine, Prevalence, Humans, 030212 general & internal medicine, Lung Diseases, Obstructive, Prospective Studies, education, Disease burden, Preventive healthcare, Retrospective Studies, education.field_of_study, business.industry, Public health, lcsh:Public aspects of medicine, Public Health, Environmental and Occupational Health, lcsh:RA1-1270, Urban poor, Obstructive lung disease, medicine.disease, 030228 respiratory system, Quality of Life, business, Research Article
Abstract: Background Globally the burden of Obstructive Lung Diseases (OLD) is growing, however its effect on urban poor populations with the high prevalence of tobacco dependence is virtually unknown. The purpose of this project is to estimate the prevalence and burden of OLD in the urban, low-income populations of Ottawa, Canada. Methods The study presented in this paper was part of the PROMPT (Management and Point-of-Care for Tobacco Dependence) project; a prospective cohort study in a community-based setting (n = 80) with meaningful Patient Engagement from design to dissemination. Spirometry data, standardized questionnaires and semi-structured interviews from PROMPT were interpreted to understand the lung function, disease burden and social determinants (respectively) in this population. Results The prevalence of OLD among those who completed spirometry (N = 64) was 45–59%. Generic and disease-specific quality of life was generally poor in all PROMPT participants, even those without OLD, highlighting the higher disease burden this vulnerable population faces. Quality of life was impacted by two major themes, including i) socioeconomic status and stress and ii) social networks and related experiences of trauma. Conclusion The prevalence and disease burden of OLD is significantly higher in Ottawa’s urban poor population than what is observed in the general Canadian population who smoke, suggesting an etiological role of the social determinants of health. This urges the need for comprehensive care programs addressing up-stream factors leading to OLDs, including poor access and utilization of preventive healthcare addressing the social determinants of health. Trial registration ClinicalTrails.gov - NCT03626064, Retrospective registered: August 2018.
Published: 2021

40. The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies

Author: Charron, Philippe, Elliott, Perry M, Gimeno, Juan R, Caforio, Alida L P, Kaski, Juan Pablo, Tavazzi, Luigi, Tendera, Michal, Maupain, Carole, Laroche, Cécile, Rubis, Pawel, Jurcut, Ruxandra, Calò, Leonardo, Heliö, Tiina M, Sinagra, Gianfranco, Zdravkovic, Marija, Kavoliūnienė, Aušra, Felix, Stephan B, Grzybowski, Jacek, Losi, Maria-Angela, Asselbergs, Folkert W, García-Pinilla, José Manuel, Salazar-Mendiguchia, Joel, Mizia-Stec, Katarzyna, Maggioni, Aldo P, Anastasakis, Aris, Biagini, Elena, Bilinska, Zofia, Castro, Francisco Jose, Celutkiene, Jelena, Chakova, Natalija, Chmielewski, Przemyslaw, Drago, Fabrizio, Frigy, Attila, Frustaci, Andrea, Garcia-Pavia, Pablo, Hinic, Sasa, Kindermann, Ingrid, Limongelli, Giuseppe, Medrano, Constancio, Monserrat, Lorenzo, Olusegun-Joseph, Akinsanya, Ripoll-Vera, Tomas, Rocha Lopes, Luis, Saad, Aly, Sala, Simone, Seferovic, Petar M, Sepp, Robert, Urbano-Moral, Jose Angel, Villacorta, Eduardo, Wybraniec, Maciej, Yotti, Raquel, Zachara, Elisabetta, Zorio, Esther, Charron, P., Elliott, P. M., Gimeno, J. R., Caforio, A. L. P., Kaski, J. P., Tavazzi, L., Tendera, M., Maupain, C., Laroche, C., Rubis, P., Jurcut, R., Calo, L., Helio, T. M., Sinagra, G., Zdravkovic, M., Kavoliuniene, A., Felix, S. B., Grzybowski, J., Losi, M. A., Asselbergs, F. W., Garcia-Pinilla, J. M., Salazar-Mendiguchia, J., Mizia-Stec, K., Maggioni, A. P., Anastasakis, A., Biagini, E., Bilinska, Z., Castro, F. J., Celutkiene, J., Chakova, N., Chmielewski, P., Drago, F., Frigy, A., Frustaci, A., Garcia-Pavia, P., Hinic, S., Kindermann, I., Limongelli, G., Medrano, C., Monserrat, L., Olusegun-Joseph, A., Ripoll-Vera, T., Lopes, L. R., Saad, A., Sala, S., Seferovic, P. M., Sepp, R., Urbano-Moral, J. A., Villacorta, E., Wybraniec, M., Yotti, R., Zachara, E., Zorio, E., Charron, Philippe, Elliott, Perry M., Gimeno, Juan R., Caforio, Alida L. P., Kaski, Juan Pablo, Tavazzi, Luigi, Tendera, Michal, Maupain, Carole, Laroche, Cécile, Rubis, Pawel, Jurcut, Ruxandra, Calò, Leonardo, Heliö, Tiina M., Sinagra, Gianfranco, Zdravkovic, Marija, Kavoliuniene, Aušra, Felix, Stephan B., Grzybowski, Jacek, Losi, Maria-Angela, Asselbergs, Folkert W., García-Pinilla, José Manuel, Salazar-Mendiguchia, Joel, Mizia-Stec, Katarzyna, Maggioni, Aldo P., Anastasakis, Ari, Biagini, Elena, Bilinska, Zofia, Castro, Francisco Jose, Celutkiene, Jelena, Chakova, Natalija, Chmielewski, Przemyslaw, Drago, Fabrizio, Frigy, Attila, Frustaci, Andrea, Garcia-Pavia, Pablo, Hinic, Sasa, Kindermann, Ingrid, Limongelli, Giuseppe, Medrano, Constancio, Monserrat, Lorenzo, Olusegun-Joseph, Akinsanya, Ripoll-Vera, Toma, Lopes, Luis Rocha, Saad, Aly, Sala, Simone, Seferovic, Petar M., Sepp, Robert, Urbano-Moral, Jose Angel, Villacorta, Eduardo, Wybraniec, Maciej, Yotti, Raquel, Zachara, Elisabetta, Zorio, Esther, Charron, P, Elliott, Pm, Gimeno, Jr, Caforio, Alp, Kaski, Jp, Tavazzi, L, Tendera, M, Maupain, C, Laroche, C, Rubis, P, Jurcut, R, Calò, L, Heliö, Tm, Sinagra, G, Zdravkovic, M, Kavoliuniene, A, Felix, Sb, Grzybowski, J, Losi, Ma, Asselbergs, Fw, García-Pinilla, Jm, Salazar-Mendiguchia, J, Mizia-Stec, K, and Maggioni, Ap
Subjects: Male, Cardiomyopathy, 030204 cardiovascular system & hematology, Defibrillator, 0302 clinical medicine, Dilated, Age Factor, 030212 general & internal medicine, Prospective Studies, Registries, Prospective cohort study, Arrhythmogenic Right Ventricular Dysplasia, Cardiomyopathy, Restrictive, adult, Hypertrophic cardiomyopathy, Age Factors, Disease Management, Dilated cardiomyopathy, Middle Aged, Magnetic Resonance Imaging, 3. Good health, Arrhythmogenic right ventricular dysplasia, Europe, Arrhythmogenic right ventricular, Female, Cardiology and Cardiovascular Medicine, Cardiomyopathies, Human, Adult, Cardiomyopathy, Dilated, Registry, medicine.medical_specialty, Cardiomyopathies, adult, Restrictive, Context (language use), Right ventricular cardiomyopathy, 03 medical and health sciences, Internal medicine, medicine, Humans, Cardiomyopathie, business.industry, Restrictive cardiomyopathy, Cardiomyopathy, Hypertrophic, medicine.disease, Prospective Studie, Hypertrophic, business, Defibrillators
Abstract: Aims The Cardiomyopathy Registry of the EURObservational Research Programme is a prospective, observational, and multinational registry of consecutive patients with four cardiomyopathy subtypes: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). We report the baseline characteristics and management of adults enrolled in the registry. ................................................................................................................................................................................................... Methods and results A total of 3208 patients were enrolled by 69 centres in 18 countries [HCM (n = 1739); DCM (n = 1260); ARVC (n = 143); and RCM (n = 66)]. Differences between cardiomyopathy subtypes (P < 0.001) were observed for age at diagnosis, history of familial disease, history of sustained ventricular arrhythmia, use of magnetic resonance imaging or genetic testing, and implantation of defibrillators. When compared with probands, relatives had a lower age at diagnosis (P < 0.001), but a similar rate of symptoms and defibrillators. When compared with the Long-Term phase, patients of the Pilot phase (enrolled in more expert centres) had a more frequent rate of familial disease (P < 0.001), were more frequently diagnosed with a rare underlying disease (P < 0.001), and more frequently implanted with a defibrillator (P = 0.023). Comparing four geographical areas, patients from Southern Europe had a familial disease more frequently (P < 0.001), were more frequently diagnosed in the context of a family screening (P < 0.001), and more frequently diagnosed with a rare underlying disease (P < 0.001). ................................................................................................................................................................................................... Conclusion By providing contemporary observational data on characteristics and management of patients with cardiomyopathies, the registry provides a platform for the evaluation of guideline implementation. Potential gaps with existing recommendations are discussed as well as some suggestions for improvement of health care provision in Europe.
Published: 2018

41. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Author: Fellmann, Florence, van El, Carla G., Charron, Philippe, Michaud, Katarzyna, Howard, Heidi C., Boers, Sarah N., Clarke, Angus J., Duguet, Anne-Marie, Forzano, Francesca, Kauferstein, Silke, Kayserili, Hulya, Lucassen, Anneke, Mendes, Alvaro, Patch, Christine, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Sheppard, Mary N., Tasse, Anne-Marie, Temel, Sehime G., Sajantila, Antti, Basso, Cristina, Wilde, Arthur A. M., Cornel, Martina C., Benjamin, Caroline, Borry, Pascal, Clarke, Angus, Cordier, Christophe, Cornel, Martina, van El, Carla, Howard, Heidi, Melegh, Bela, Perola, Markus, Peterlin, Borut, Rogowski, Wolf, Soller, Maria, Stefansdottir, Vigdis, de Wert, Guido, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Fellmann, Florence, van El, Carla G., Charron, Philippe, Michaud, Katarzyna, Howard, Heidi C., Boers, Sarah N., Clarke, Angus J., Duguet, Anne-Marie, Forzano, Francesca, Kauferstein, Silke, Lucassen, Anneke, Mendes, Alvaro, Patch, Christine, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Sheppard, Mary N., Tasse, Anne-Marie, Temel, Şehime G., Sajantila, Antti, Basso, Cristina, Wilde, Arthur A. M., Cornel, Martina C., Benjamin, Caroline, Borry, Pascal, Clarke, Angus, Cordier, Christophe, Cornel, Martina, European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group, European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Association for European Cardiovascular Pathology, School of Medicine, Department of Medical Genetics, Human genetics, APH - Personalized Medicine, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Department of Forensic Medicine, University of Helsinki, University Management, Doctoral Programme in Biomedicine, Doctoral Programme in Population Health, PaleOmics Laboratory, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji Ve Embriyoloji Ana Bilim Dalı., Temel, Sehime G., AAG-8385-2021, Université de Lausanne (UNIL), Vrije Universiteit Amsterdam [Amsterdam] (VU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Uppsala Universitet [Uppsala], University Medical Center [Utrecht], Cardiff Metropolitan University, Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Guy's and St Thomas' Hospital [London], Universitätsklinikum Frankfurt, Istanbul University, University of Southampton, Instituto de Investigação e Inovação em Saúde (I3S), Universidade do Porto, King‘s College London, Queen Mary University of London (QMUL), University of Belgrade [Belgrade], St George's, University of London, McGill University = Université McGill [Montréal, Canada], Universita degli Studi di Padova, University of Amsterdam [Amsterdam] (UvA), Cardiology, and ACS - Heart failure & arrhythmias
Subjects: Collaborative care team, Biochemistry & molecular biology, [SDV]Life Sciences [q-bio], Sudden Cardiac Death, Sports, Athletes, VARIANTS, GUIDELINES, Sudden cardiac death, Biochemistry and molecular biology, Genetics and heredity, HARMONIZATION, Organization and management, Pathology, Informed consent, Cardiac muscle, Genetics (clinical), Cause of death, Priority journal, 0303 health sciences, DIAGNOSTIC YIELD, medicine.diagnostic_test, Expert consensus statement, Molecular autopsy, Diagnostic yield, Young, Association, Guidelines, Harmonization, Prevention, Nationwide, Variants, 030305 genetics & heredity, Medical jurisprudence, Genetics & heredity, Pericardial disease, 1184 Genetics, developmental biology, physiology, ASSOCIATION, Health policy, 3. Good health, Death, Policy, Medical genetics, Autopsy, Medical Genetics, Cardiac, Human, medicine.medical_specialty, Heart Diseases, education, Family history, MEDLINE, Context (language use), Heart disease, Article, 03 medical and health sciences, Health care policy, Genetic screening, medicine, Genetics, Humans, European Union, Genetic Testing, Mortality, EXPERT CONSENSUS STATEMENT, Medicinsk genetik, Genetic testing, [SDV.GEN]Life Sciences [q-bio]/Genetics, Genetic services, business.industry, Public health, Myocardium, DNA, NATIONWIDE, medicine.disease, Sudden, Myocardial disease, PREVENTION, Medical society, Death, Sudden, Cardiac, Gene identification, MOLECULAR AUTOPSY, Family medicine, YOUNG, 3111 Biomedicine, Medicolegal aspect, business
Abstract: Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation., NA
Published: 2019
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42. Assessment of atrial function by myocardial deformation techniques in hypertrophic cardiomyopathy

Author: Sophie Mallet, Valérie Siam-Tsieu, Nicolas Mansencal, Sophie Urtado, Olivier Dubourg, Catherine Szymanski, Hélène Hergault, Philippe Charron, Service de cardiologie et maladies vasculaires [CHU Ambroise Paré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: medicine.medical_specialty, Longitudinal strain, Diastole, 030204 cardiovascular system & hematology, Left atrial strain, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Left atrial, Internal medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, Diastolic function, Heart Atria, cardiovascular diseases, 030212 general & internal medicine, ComputingMilieux_MISCELLANEOUS, business.industry, Myocardium, Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic, medicine.disease, Atrial strain, Echocardiography, NYHA classification, cardiovascular system, Cardiology, Atrial Function, Left, Cardiology and Cardiovascular Medicine, business
Abstract: BACKGROUND Diastolic dysfunction in hypertrophic cardiomyopathy (HCM) is common, but its assessment is difficult using conventional echocardiography. AIMS To assess left atrial (LA) function in HCM by longitudinal strain and determine its role in understanding of symptoms. METHODS We studied 144 patients divided into 3 age- and sex-matched groups: 48 consecutive patients with HCM, 48 control subjects, and 48 athlete subjects. We assessed LA function by conventional echocardiographic parameters and by longitudinal atrial strain (early-diastolic left atrial strain during reservoir phase [LASr]; end-diastolic left atrial strain during conduit phase; end-systolic peak of the left atrial strain during contraction phase). RESULTS NYHA classification was as follows in HCM group: I in 46%, II in 31%, III in 19%, and IV in 4%. Conventional echocardiographic parameters of diastolic function were depressed in the HCM group as compared to the control and athlete groups, but not related to symptoms. All longitudinal atrial strain parameters were significantly reduced in HCM group as compared to two groups (P
Published: 2020
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43. Subtherapeutic Photodynamic Treatment Facilitates Tumor Nanomedicine Delivery and Overcomes Desmoplasia

Author: Maneesha A Rajora, Marta Overchuk, Danielle M. Charron, Brian C. Wilson, Shrey Sindhwani, Warren C. W. Chan, Gang Zheng, Martin G. Pomper, Abdullah Muhammad Syed, Adam Koebel, Juan Chen, and Kara M. Harmatys
Subjects: Male, Programmed cell death, medicine.medical_treatment, Priming (immunology), Bioengineering, Photodynamic therapy, Antineoplastic Agents, 02 engineering and technology, Extracellular matrix, Prostate cancer, Mice, Neoplasms, medicine, Animals, General Materials Science, business.industry, Mechanical Engineering, General Chemistry, 021001 nanoscience & nanotechnology, Condensed Matter Physics, medicine.disease, 3. Good health, Desmoplasia, Nanomedicine, Photochemotherapy, Toxicity, Cancer research, Nanoparticles, medicine.symptom, 0210 nano-technology, business
Abstract: Limited tumor nanoparticle accumulation remains one of the main challenges in cancer nanomedicine. Here, we demonstrate that subtherapeutic photodynamic priming (PDP) enhances the accumulation of nanoparticles in subcutaneous murine prostate tumors ∼3-5-times without inducing cell death, vascular destruction, or tumor growth delay. We also found that PDP resulted in an ∼2-times decrease in tumor collagen content as well as a significant reduction of extracellular matrix density in the subendothelial zone. Enhanced nanoparticle accumulation combined with the reduced extravascular barriers improved therapeutic efficacy in the absence of off-target toxicity, wherein 5 mg/kg of Doxil with PDP was equally effective in delaying tumor growth as 15 mg/kg of Doxil. Overall, this study demonstrates the potential of PDP to enhance tumor nanomedicine accumulation and alleviate tumor desmoplasia without causing cell death or vascular destruction, highlighting the utility of PDP as a minimally invasive priming strategy that can improve therapeutic outcomes in desmoplastic tumors.
Published: 2020

44. mTOR Activation Initiates Renal Cell Carcinoma Development by Coordinating ERK and p38MAPK

Author: Yibin Wang, Hongguang Wu, Bijaya K. Nayak, Jean Charron, Baojie Li, Xin Zhou, Dan He, Samy L. Habib, Huijuan Liu, Shafiquzzaman, and Soma Biswas
Subjects: 0301 basic medicine, MAPK/ERK pathway, Cancer Research, Cell, MAP Kinase Kinase 1, Apoptosis, urologic and male genital diseases, medicine.disease_cause, Tuberous Sclerosis Complex 1 Protein, Mitogen-Activated Protein Kinase 14, 03 medical and health sciences, Mice, 0302 clinical medicine, Renal cell carcinoma, medicine, Tumor Cells, Cultured, Animals, Phosphorylation, Carcinoma, Renal Cell, PI3K/AKT/mTOR pathway, Cyclin-Dependent Kinase Inhibitor p16, Cell Proliferation, Mice, Knockout, Cell growth, Chemistry, TOR Serine-Threonine Kinases, medicine.disease, female genital diseases and pregnancy complications, Kidney Neoplasms, Gene Expression Regulation, Neoplastic, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Cancer research, TSC1, Tumor Suppressor Protein p53, Carcinogenesis, Clear cell
Abstract: Renal cell carcinoma (RCC) mainly originates from renal proximal tubules. Intriguingly, disruption of genes frequently mutated in human RCC samples thus far has only generated RCC originated from other renal tubule parts in mouse models. This hampers our understanding of the pathogenesis of RCC. Here we show that mTOR signaling, often activated in RCC samples, initiates RCC development from renal proximal tubules. Ablation of Tsc1, encoding an mTOR suppressor, in proximal tubule cells led to multiple precancerous renal cysts. mTOR activation increased MEK1 expression and ERK activation, and Mek1 ablation or inhibition diminished cyst formation in Tsc1-deficient mice. mTOR activation also increased MKK6 expression and p38MAPK activation, and ablation of the p38α-encoding gene further enhanced cyst formation and led to RCC with clear cell RCC features. Mechanistically, Tsc1 deletion induced p53 and p16 expression in a p38MAPK-dependent manner, and deleting Tsc1 and Trp53 or Cdkn2a (encoding p16) enhanced renal cell carcinogenesis. Thus, mTOR activation in combination with inactivation of the p38MAPK–p53/p16 pathway drives RCC development from renal proximal tubules. Moreover, this study uncovers previously unidentified mechanisms by which mTOR controls cell proliferation and suggests the MEK–ERK axis to be a potential target for treatment of RCC. Significance: Mouse modeling studies show that mTOR activation in combination with inactivation of the p38MAPK–p53/p16 axis initiates renal cell carcinoma that mimics human disease, identifying potential therapeutic targets for RCC treatment.
Published: 2020

45. Abstract 16685: Shared Genetic Pathways Contribute to Risk of Hypertrophic and Dilated Cardiomyopathies With Opposite Directions of Effect

Author: Michelle Michels, Andrew R. Harper, Benjamin Meder, Catherine Francis, Paul M. Matthews, Connie R. Bezzina, Rudolf A. de Boer, Ken Kelu Bisabu, Philippe Charron, Xiao Xu, Rafik Tadros, Hugh Watkins, Alexa M.C. Vermeer, James S. Ware, Imke Christiaans, Roddy Walsh, Roy Huurman, and Arthur A.M. Wilde
Subjects: medicine.medical_specialty, business.industry, Cardiomyopathy, Hypertrophic cardiomyopathy, medicine.disease, Genetic pathways, Sudden death, Transplantation, Contractility, Physiology (medical), Internal medicine, Heart failure, cardiovascular system, medicine, Cardiology, cardiovascular diseases, Cardiology and Cardiovascular Medicine, business
Abstract: Introduction: Hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure requiring transplantation in young individuals. While some cases have a monogenic underlying cause, the majority remain unexplained. Objective: To better understand the contribution of common genetic variants in susceptibility and severity of cardiomyopathy. Methods: We conducted three genome-wide association studies (GWAS) and multi-trait analyses in European-ancestry individuals, including a HCM (1,733 cases) and DCM meta-analyses (5,521 cases), and a GWAS of 9 left ventricular (LV) traits in 19,260 healthy participants from the UK Biobank that underwent cardiac magnetic resonance imaging. We investigated genetic correlations between LV traits, HCM and DCM using LD score regression. We used two-sample mendelian randomization (MR) to assess the causal relationship of increased LV contractility with HCM risk. Lastly, we derived a polygenic risk score and assessed whether it modulates maximal LV wall thickness (maxLVWT) and clinical events in 368 sarcomeric mutation carriers, using linear and Cox mixed effects models, respectively. Results: We identified 16 genetic loci (15 novel) associated with HCM, 13 loci (7 novel) associated with DCM, and 23 loci associated with LV traits. We showed strong genetic correlations between LV volumes and contractility traits in the general population and cardiomyopathies, with opposing effects in HCM and DCM. Using MR, we demonstrated a causal association linking increased LV contractility with HCM risk and estimated that each unit (1%) increase in LV ejection fraction increases the risk of HCM by 37% (95% CI 10%-69%, P=0.004). Lastly, a polygenic risk score (PRS HCM ) derived from the HCM GWAS was associated with maxLVWT (P=0.0001) and clinical events (P=0.009) in carriers of HCM-causing rare variants. Conclusion: Our findings highlight the contribution of common genetic variants in susceptibility for HCM and DCM, and in severity in sarcomeric mutation carriers. Our data also point to increased LV contractility as an important mechanism of HCM independently of sarcomere activating rare variants, and highlight the potential clinical relevance of PRS for risk stratification in HCM.
Published: 2020
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46. Genome wide association analysis in dilated cardiomyopathy revealed two new susceptibility loci for systolic heart failure

Author: Magdalena Harakalova, François Cambien, David A. Tregouet, Folkert W. Asselbergs, Michal Mokry, P. Charron, Stefan Weiss, Sophie Garnier, J. van Setten, Eric Villard, Jean-François Deleuze, Carole Proust, L. Duboscq-Bidot, Anne Boland, and Marcus Dörr
Subjects: Genetics, business.industry, Genomics, Dilated cardiomyopathy, Genome-wide association study, medicine.disease, Heart failure, medicine, Genome-Wide Association Analysis, Allele, Cardiology and Cardiovascular Medicine, business, Functional genomics, Gene
Abstract: We conducted the largest Genome Wide Association Study performed so far in Dilated Cardiomyopathy (DCM), a leading cause of systolic heart failure and cardiovascular death. Using a discovery phase of 2,719 cases and 4,440 controls and a replication phase of 584 independent cases and 966 controls, we identified and replicated two new DCM-associated loci, one on chromosome 3p (meta-analysis OR = 1.36 [1.25 - 1.48], p=5.3 10–13) and the second on chromosome 22q (meta-analysis OR = 1.33 [1.22 - 1.46], p=5.0 10–10), while confirming the two previously identified DCM loci on chromosome 10 and 1, BAG3 and HSPB7. We estimated the global heritability to 31% ± 8%. The genetic risk score constructed from the number of lead risk-alleles at these 4 loci revealed a 27% risk increased in individuals with 8 risk-alleles compared to the 5 risk alleles reference group (OR = 1.27 [1.14–1.42]). The two association signals were then fine-mapped by combining in silico and functional genomics investigations (as 4C-sequencing on iPSC-derived cardiomyocytes). While a few genes remain candidates at the second locus and deserve further investigations, our work clearly identified one gene as responsible for the association at the first locus whose role in the pathophysiology of DCM is supported by recent observations in human and mice. As the biological pathway in which this gene is involved is a potential target for pharmacological agents, our finding opens novel therapeutic perspectives for treating or preventing heart failure. We are convinced that these results provide new findings that add both on the understanding of the genetic architecture of heart failure and on potential new players involved in the pathophysiology of this devastating disease. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): GENMED Laboratory of Excellence on Medical Genomics, DETECTIN-HF project (ERA-CVD framework), Assistance Publique-Hôpitaux de Paris, Délégation à la recherche clinique, the “Fondation LEDUCQ”, the PROMEX charitable foundation, the Société Française de Cardiologie/Fédération Française de Cardiologie, the Deutsche Forschungsgemeinschaft, The Federal Ministry of Education and Research and the Ministry of Cultural Affairs and the Social Ministry of the Federal State of Mecklenburg-West Pomerania, The German Center for Cardiovascular Research (DZHK), Hospitals NIHR Biomedical Research Centre, NWO VENI grant (no. 016.176.136)
Published: 2020
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47. High prevalence of familial and genetic disease in children with cardiomyopathies: baseline paediatric data from the ESC EORP Cardiomyopathy and Myocarditis registry

Author: P. Charron, Perry M. Elliott, Luigi Tavazzi, M. Tendera, Cécile Laroche, A.G Maggioni, Esc Eorp Cardiomyopathy Registry Investigators, Alida L.P. Caforio, Juan Pablo Kaski, and Juan R. Gimeno
Subjects: Reflectance confocal microscopy, medicine.medical_specialty, High prevalence, Myocarditis, business.industry, Cardiomyopathy, Genetic disorder, Disease, medicine.disease, Arrhythmogenic right ventricular dysplasia, Internal medicine, Cardiology, medicine, Cardiology and Cardiovascular Medicine, business
Abstract: Background Previous studies on paediatric cardiomyopathies have provided useful information on their epidemiology and clinical presentation but have been limited by a lack of detailed data on genetic testing and aetiology. Purpose The purpose of this study was to examine the frequency of familial and genetic disease among children with cardiomyopathy enrolled in the European Society of Cardiology (ESC) Cardiomyopathy and Myocarditis EORP Long-Term Registry (CMY-LT). Methods 633 individuals aged Results Overall, 253 patients (47% of those reported) had familial disease; in those diagnosed between 10 and 18 years of age, familial disease was most frequent in HCM and least frequent in DCM [57 (55%) vs 12 (32%); p=0.046]. Genetic testing was performed in 414 (68%) patients. In those diagnosed Conclusion This study confirms the heterogeneous aetiology of childhood cardiomyopathies and demonstrate a higher prevalence of familial disease than previously reported in paediatric populations. Genetic testing is performed in a high proportion of patients, with a high yield of reported causative variants. Funding Acknowledgement Type of funding source: None
Published: 2020
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48. Baseline features and management in adult and pediatric clinically suspected and biopsy-proven myocarditis in the cardiomyopathy and myocarditis long-term EORP registry

Author: P. Charron, Cmy-Lt investigators, Luigi Tavazzi, A.L.P. Caforio, C.P Gale, M. Tendera, A.P. Maggioni, Juan Pablo Kaski, P.J Elliott, J. R. Gimeno Blanes, and Cécile Laroche
Subjects: medicine.medical_specialty, Myocarditis, biology, medicine.diagnostic_test, business.industry, Cardiomyopathy, Cardiac arrhythmia, medicine.disease, Troponin, Internal medicine, Heart failure, Biopsy, medicine, Cardiology, biology.protein, Myoc gene, Cardiology and Cardiovascular Medicine, business
Abstract: Background The Myocarditis section of the EORP Cardiomyopathy and Myocarditis Long-term Registry is a prospective, observational, multinational registry of adult and pediatric patients enrolled using the ESC 2013 diagnostic criteria of clinically suspected (CS) or biopsy-proven (BP) myocarditis (myoc). Purpose i) To obtain a real-world snapshot of features and management of myoc; ii) to assess features at presentation in CS and in BP myoc and by age. Methods 581 patients (68% male), 493 adults, aged 34.9 (SD 18.5) years, and 88 children, aged 8.1 (SD 5.2) years, were divided into 3 groups (G): G1 (n=234, 40%), CS myoc plus cardiac magnetic resonance (CMR) confirmed; G2 (n=222, 38,2%), BP myoc; G3 (n=125, 21.5%), CS myoc, no or normal or inconclusive CMR. Baseline features, procedures, medications were analysed in the total population, in adults vs children, and among G. Results In all patients: pseudo-infarct presentation with normal coronary arteries is common (58%), as is heart failure (HF) with or without chest pain and troponin release (58%), followed by arrhythmia (41.9%). In children new-onset HF is more common than in adults (29/32, 90% vs 90/190, 47%, p=0.001). In both adult and pediatric G2 BP myoc, HF and arrhythmia were more common than in CS myoc. Left and right ventricular (RV) echocardiography and CMR function indexes and troponins were lower, NT-pro BNP was higher in G2 BP myoc vs G1 and G3 CS myoc. On CMR oedema and/or Late Gadolinium Enhancement (LGE) were found in 57.4% of adult and in 31.3% of paediatric G2 BP myoc. Endomyocardial biopsy (EMB) was obtained in a similar proportion in children (31/88, 35.2%) and adults (185/493, 37.5%, p=NS), ventricular assist devices were more commonly implanted in G2 children (8/32, 25%) than in G2 adults (4/190, 2.1%, p=0.001), ICD tended to be less common in G2 children (2/32, 6.3%) than in G2 adults (48/190, 25%, p=0.07). In all patients EMB, mainly RV (75.8%), had a low complication rate (4.7%), similar in adults vs children, with no procedure-related death. Histology findings were: lymphocitic myoc (78.9%), giant cell (10.9%), sarcoid (6.9%), non specific (16%). Viral genome was found in 44% of patients (most common PVB19, 21.7%, HHV6, 9.5%). In all patients HF and antiarrhytmic drugs were more frequently used in G2, antivirals in a patient minority, steroids in 24.7%, immunosuppression (IS) in 22.6%. In children steroids or IS were given regardless of G, in adults mainly to G2 BP myoc patients, in keeping with the ESC 2013 expert reco's. Conclusions EMB is safe in children and adults and is still the diagnostic gold standard, since CMR failed to identify myoc in a high proportion of G2 BP patients. Etiology-directed therapy was used in a minority of G2 cases, and/or regardless of etiology, thus there is room for improved management. G2 BP patients were older, sicker, had worse biventricular function, more medications and ICDs; follow-up may show their worse outcome. Funding Acknowledgement Type of funding source: None
Published: 2020
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49. Genetic counselling and testing of adult patients with cardiomyopathies: insight from the EORP cardiomyopathy and myocarditis registry of the European Society of Cardiology

Author: J.G Gimeno, Luigi Tavazzi, Perry M. Elliott, P Kaski, Juha Koskenvuo, Alida L.P. Caforio, Cécile Laroche, M. Tendera, A.P. Maggioni, Tiina Heliö, and P. Charron
Subjects: medicine.medical_specialty, Myocarditis, Adult patients, business.industry, Genetic counseling, Cardiomyopathy, 030204 cardiovascular system & hematology, medicine.disease, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Medicine, Cardiology and Cardiovascular Medicine, business, Intensive care medicine
Abstract: Introduction Cardiomyopathies comprise a heterogeneous group of diseases, often of genetic origin. Purpose We assessed the current practice of genetic counselling and testing of adult cardiomyopathy patients in the prospective ESC EORP cardiomyopathy registry. Methods 3 208 adult patients from sixty-nine centres in 18 countries were enrolled. Clinical data on genetic counselling and testing and on the presentation of cardiomyopathies were gathered. Results Genetic counselling was performed in 60.8% of all patients (75.4% in hypertrophic (HCM), 39.2% in dilated (DCM), 70.8% in arrhythmogenic right ventricular (ARVC) and 49.2% in restrictive cardiomyopathy (RCM), p Conclusion We report on the practice of genetic counselling and testing in cardiomyopathies in Europe. Genetic counselling and testing were performed in a substantial proportion of patients but less often than recommended by European guidelines, and much less in DCM than in HCM and ARVC, despite evidence for genetic background. Funding Acknowledgement Type of funding source: None
Published: 2020
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50. Availability and applicability of cardiac magnetic resonance imaging in diagnosis in cardiomyopathies: the Cardiomyopathy/Myocarditis registry of the EURObservational Research Programme of the ESC

Author: Juan Ramon Gimeno Blanes, Cécile Laroche, Juan Pablo Kaski, Luigi Tavazzi, Perry M. Elliott, Maciej T. Wybraniec, P. Charron, M. Tendera, Alida L.P. Caforio, A.P. Maggioni, and Katarzyna Mizia-Stec
Subjects: medicine.medical_specialty, Myocarditis, medicine.diagnostic_test, business.industry, Cardiomyopathy, medicine.disease, Cardiac magnetic resonance imaging, Internal medicine, cardiovascular system, medicine, Cardiology, cardiovascular diseases, Cardiology and Cardiovascular Medicine, business
Abstract: Background Cardiac magnetic resonance (CMR) constitutes a gold standard in the diagnosis of cardiomyopathies. Regardless of CMR advantages, the method is time-consuming, high-cost, with limited availability in some European regions. Purpose To assess the availability and applicability of CMR for establishing the diagnosis in different populations of patients with cardiomyopathies. Methods Overall, 3208 adult patients with cardiomyopathy (1119 / 34.9% females; median age at diagnosis: 49.0 years): 1260 with dilated (DCM), 1739 with hypertrophic (HCM), 66 with restrictive (RCM) and 143 with arrhythmogenic right ventricular cardiomyopathy (ARVC) enrolled in EURObservational Research Programme (EORP) – Cardiomyopathy/Myocarditis Long-Term Registry were analysed. Results CMR scan was performed as a baseline diagnostic method in 29.4% of patients; CMR was a single diagnostic method in 0.9% of patients and in 28.6% of patients CMR was used along with transthoracic echocardiography (TTE). In 67.6% of patients TTE was at the baseline the single diagnostic imaging method. Prevalence of CMR use in different cardiomyopathies was as follows: 20.6% in DCM, 33.8% in HCM, 36.4% in RCM and 51.1% in ARVC (p The population with CMR use was younger, less symptomatic, with decreased prevalence of other cardiovascular risk factors and of associated cardiovascular diseases as compared to the population diagnosed without CMR scanning (p Abnormal CMR results were present in 93.4% of patients with the highest percentage in RCM (95.8%) and HCM (94.9%) followed by DCM (91.5%) and the lowest abnormal CMR scan ratio in ARVC (87.7%) (p=0.030). The majority of CMR examinations comprised the assessment of late gadolinium enhancement (LGE, 93.3% at baseline). Presence of CMR LGE was observed in 69.3% of all patients: 59.1% in DCM, 73.8% in HCM, in 63.9% in ARVC and with the highest prevalence in RCM (83.3%) (p Conclusion The study reveals real-life data on the low availability and applicability of CMR in adult patients with cardiomyopathies. The analysis shows the advantages of CMR imaging but also identifies the gaps between recommendations and clinical practice. Improvement regarding access, training and reimbursement is necessary to offer CMR to cardiomyopathy patients in accordance with the ESC guidelines. Funding Acknowledgement Type of funding source: None
Published: 2020
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