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1,356 results on '"Cecchi, F."'

2. Candidacy and long-term outcomes of subcutaneous implantable cardioverter-defibrillators in current practice in patients with hypertrophic cardiomyopathy

Author

Rella, V., Maurizi, N., Bernardini, A., Brasca, F.M., Salerno, S., Meda, M., Mariani, D., Torchio, M., Ravaro, S., Cerea, P., Castelletti, S., Fumagalli, C., Conte, G., Auricchio, A., Girolami, F., Pieragnoli, P., Carrassa, G.M., Parati, G., Olivotto, I., Perego, G.B., Cecchi, F., and Crotti, L.

Published
2024
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3. Helminth fauna in roe deer (Capreolus capreolus Linnaeus, 1758) in the province of Grosseto (central Italy)

Author

Macchioni F., Vallone F., Lenzi C., Monni G., Matiacic A., Cecchi F., and Romeo G.

Subjects
roe deer, helminth fauna, capreolus capreolus endoparasites, central italy, wild ruminants, Microbiology, QR1-502
Abstract

Helminth infection was analysed at necropsy and coprology in a total of 54 roe deer from the province of Grosseto (central Italy) between 2018 – 2020. Age and sex data were recorded for each deer for a total of 31 adults (23 females, 8 males) and 23 juveniles (11 females, 12 males).

Published
2023
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5. Long-term outcomes associated with subcutaneous implantable cardioverter-defibrillators in patients with hypertrophic cardiomyopathy

Author

Rella, V, primary, Maurizi, N, additional, Bernardini, A, additional, Brasca, F M, additional, Salerno, S, additional, Meda, M, additional, Mariani, D, additional, Torchio, M, additional, Conte, G, additional, Auricchio, A, additional, Parati, G, additional, Olivotto, I, additional, Perego, G B, additional, Cecchi, F, additional, and Crotti, L, additional

Published
2024
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7. The effect of spinal manipulative therapy on pain relief and function in patients with chronic low back pain: an individual participant data meta-analysis

Author

Bronfort, G., Foster, N.E., Maher, C.G., Hartvigsen, J., Balthazard, P., Cecchi, F., Ferreira, M.L., Gudavalli, M.R., Haas, M., Hidalgo, B., Hondras, M.A., Hsieh, C.Y., Learman, K., McCarthy, P.W., Petersen, T., Rasmussen-Barr, E., Skillgate, E., Verma, Y., Vismara, L., Walker, B.F., Xia, T., Zaproudina, N., de Zoete, Annemarie, Rubinstein, Sidney M., de Boer, Michiel R., Ostelo, Raymond, Underwood, Martin, Hayden, Jill A., Buffart, Laurien M., and van Tulder, Maurits W.

Published
2021
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8. Educational Robotics in Down Syndrome: A Feasibility Study

Author

Bargagna, S., Castro, E., Cecchi, F., Cioni, G., Dario, P., Dell'Omo, M., Di Lieto, M. C., Inguaggiato, E., Martinelli, A., Pecini, C., and Sgandurra, G.

Abstract

Educational robotics (ER) uses robotic kits as a channel for education and collaborative learning in a play setting. Thanks to adaptability of robots, ER could facilitate inclusion of special-needs children, such as children with Down syndrome (DS), in learning programs. In a previous study, we provided evidence that ER could promote superior cognitive functions, such as executive functions, which are involved in problem solving, reasoning and planning in typically developing preschool children. In this preliminary study, we aimed to evaluate ER training feasibility, adapting methodology and previously experimented activities to promote executive functions in DS children. Eight DS children carried out 45-min weekly group sessions for 8 weeks in an ER laboratory (ER-Lab) using the Bee-Bot. Training setting was generally well-suited for this small sample of DS children. Due to sample heterogeneity, qualitative results of only two exemplificative children are presented and discussed. Results indicate that Bee-Bot is a very significant device for promoting interest, attention and interaction with adults and peers. Promotion of executive functions seemed to be possible in one child, who eagerly participated in ER-Lab activities.

Published
2019
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10. A Multicenter Randomized Controlled Trial on the Upper Limb Robotic Rehabilitation in Subacute Stroke Using a Set of Robotic and Sensor-Based Devices: Feasibility of the InTeReSt Study

Author

The FDG Robotic Rehabilitation Group, Aprile, I., Germanotta, M., Cruciani, A., Loreti, S., Pecchioli, C., Montesano, A., Galeri, S., Cecchi, F., Diverio, M., Falsini, C., Speranza, G., Langone, E., Padua, L., Guglielmelli, Eugenio, Series Editor, Masia, Lorenzo, editor, Micera, Silvestro, editor, Akay, Metin, editor, and Pons, José L., editor

Published
2019
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12. Corrigendum to “Syncope in hypertrophic cardiomyopathy (part I): An updated systematic review and meta-analysis” [International Journal of Cardiology Volume 357, 15 June 2022, Pages 88–94]. (International Journal of Cardiology (2022) 357 (88–94), (S0167527322003850), (10.1016/j.ijcard.2022.03.028))

Author

Mascia G., Mascia, G, Crotti, L, Groppelli, A, Canepa, M, Merlo, A, Benenati, S, Di Donna, P, Bona, R, Soranna, D, Zambon, A, Porto, I, Olivotto, I, Parati, G, Brignole, M, Cecchi, F, Mascia G., Crotti L., Groppelli A., Canepa M., Merlo A. C., Benenati S., Di Donna P., Bona R. D., Soranna D., Zambon A., Porto I., Olivotto I., Parati G., Brignole M., Cecchi F., Mascia G., Mascia, G, Crotti, L, Groppelli, A, Canepa, M, Merlo, A, Benenati, S, Di Donna, P, Bona, R, Soranna, D, Zambon, A, Porto, I, Olivotto, I, Parati, G, Brignole, M, Cecchi, F, Mascia G., Crotti L., Groppelli A., Canepa M., Merlo A. C., Benenati S., Di Donna P., Bona R. D., Soranna D., Zambon A., Porto I., Olivotto I., Parati G., Brignole M., and Cecchi F.

Abstract

The author Lia Crotti would like to integrate her affiliation as follows, since in the original version of the article the university affiliation was not present. Affiliations. b Department of Cardiology, IRCCS Istituto Auxologico Italiano, Department of Cardiovascular, Neural and Metabolic Sciences, Ospedale San Luca, Milan, Italy. f Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy. The authors would like to apologise for any inconvenience caused.

Published
2023

17. Syncope in hypertrophic cardiomyopathy (part I): An updated systematic review and meta-analysis

Author

Mascia, G, Crotti, L, Groppelli, A, Canepa, M, Merlo, A, Benenati, S, Di Donna, P, Della Bona, R, Soranna, D, Zambon, A, Porto, I, Olivotto, I, Parati, G, Brignole, M, Cecchi, F, Mascia G., Crotti L., Groppelli A., Canepa M., Merlo A. C., Benenati S., Di Donna P., Della Bona R., Soranna D., Zambon A., Porto I., Olivotto I., Parati G., Brignole M., Cecchi F., Mascia, G, Crotti, L, Groppelli, A, Canepa, M, Merlo, A, Benenati, S, Di Donna, P, Della Bona, R, Soranna, D, Zambon, A, Porto, I, Olivotto, I, Parati, G, Brignole, M, Cecchi, F, Mascia G., Crotti L., Groppelli A., Canepa M., Merlo A. C., Benenati S., Di Donna P., Della Bona R., Soranna D., Zambon A., Porto I., Olivotto I., Parati G., Brignole M., and Cecchi F.

Abstract

Aims: To describe the proportion of patients with syncope among those affected by hypertrophic cardiomyopathy (HCM) and the relevance of syncope as risk factor for sudden cardiac death and life-threatening arrhythmic events. Method and results: Systematic review of original articles that assessed syncope in HCM patients. Literature search of PubMed including all English publications from 1973 to 2021.We found 57 articles for a total of 21.791 patients; of these, 14 studies reported on arrhythmic events in the follow-up. Syncope was reported in 15.8% (3.452 of 21.791) patients. It was considered unexplained in 91% of cases. Life-threatening arrhythmic events occurred in 3.6% of non-syncopal patients and in 7.7% of syncopal patients during a mean follow-up of 5.6 years. A relative risk of 1.99 (95%CI 1.39 to 2.86) was estimated for syncope patients by the random effect model using Haldane continuity correction for 0 events. Conclusions: In the current practice, the cause of syncope remained unexplained in most patients affected by HCM. The management of patients seems mainly driven by risk stratification rather than identification of the aetiology of syncope. There is a need of precise instructions how to apply the recommendations of current guidelines to this disease, which tests are indicated and how to interpret their findings. The protocol was registered in Prospero (ID: 275963).

Published
2022

19. Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions

Author

Girolami, F, Gozzini, A, Pálinkás, E, Ballerini, A, Tomberli, A, Baldini, K, Marchi, A, Zampieri, M, Passantino, S, Porcedda, G, Calabri, G, Bennati, E, Spaziani, G, Crotti, L, Cecchi, F, Favilli, S, Olivotto, I, Girolami, Francesca, Gozzini, Alessia, Pálinkás, Eszter Dalma, Ballerini, Adelaide, Tomberli, Alessia, Baldini, Katia, Marchi, Alberto, Zampieri, Mattia, Passantino, Silvia, Porcedda, Giulio, Calabri, Giovanni Battista, Bennati, Elena, Spaziani, Gaia, Crotti, Lia, Cecchi, Franco, Favilli, Silvia, Olivotto, Iacopo, Girolami, F, Gozzini, A, Pálinkás, E, Ballerini, A, Tomberli, A, Baldini, K, Marchi, A, Zampieri, M, Passantino, S, Porcedda, G, Calabri, G, Bennati, E, Spaziani, G, Crotti, L, Cecchi, F, Favilli, S, Olivotto, I, Girolami, Francesca, Gozzini, Alessia, Pálinkás, Eszter Dalma, Ballerini, Adelaide, Tomberli, Alessia, Baldini, Katia, Marchi, Alberto, Zampieri, Mattia, Passantino, Silvia, Porcedda, Giulio, Calabri, Giovanni Battista, Bennati, Elena, Spaziani, Gaia, Crotti, Lia, Cecchi, Franco, Favilli, Silvia, and Olivotto, Iacopo

Abstract

Genetic counselling and genetic testing in hypertrophic cardiomyopathy (HCM) represent an integral part of the diagnostic algorithm to confirm the diagnosis, distinguish it from phenocopies, and suggest tailored therapeutic intervention strategies. Additionally, they enable cascade genetic testing in the family. With the implementation of Next Generation Sequencing technologies (NGS), the interpretation of genetic data has become more complex. In this regard, cardiologists play a central role, aiding geneticists to correctly evaluate the pathogenicity of the identified genetic alterations. In the ideal setting, geneticists and cardiologists must work side by side to diagnose HCM as well as convey the correct information to patients in response to their many questions and concerns. After a brief overview of the role of genetics in the diagnosis of HCM, we present and discuss the frequently asked questions by HCM patients throughout our 20-year genetic counselling experience. Appropriate communication between the team and the families is key to the goal of delivering the full potential of genetic testing to our patients.

Published
2023

20. Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management

Author

Brignole, M, Cecchi, F, Anastasakis, A, Crotti, L, Deharo, J, Elliott, P, Fedorowski, A, Kaski, J, Limongelli, G, Maron, M, Olivotto, I, Ommen, S, Parati, G, Shen, W, Ungar, A, Wilde, A, Brignole, Michele, Cecchi, Franco, Anastasakis, Aris, Crotti, Lia, Deharo, Jean Claude, Elliott, Perry M, Fedorowski, Artur, Kaski, Juan Pablo, Limongelli, Giuseppe, Maron, Martin S, Olivotto, Iacopo, Ommen, Steve R, Parati, Gianfranco, Shen, Win, Ungar, Andrea, Wilde, Arthur, Brignole, M, Cecchi, F, Anastasakis, A, Crotti, L, Deharo, J, Elliott, P, Fedorowski, A, Kaski, J, Limongelli, G, Maron, M, Olivotto, I, Ommen, S, Parati, G, Shen, W, Ungar, A, Wilde, A, Brignole, Michele, Cecchi, Franco, Anastasakis, Aris, Crotti, Lia, Deharo, Jean Claude, Elliott, Perry M, Fedorowski, Artur, Kaski, Juan Pablo, Limongelli, Giuseppe, Maron, Martin S, Olivotto, Iacopo, Ommen, Steve R, Parati, Gianfranco, Shen, Win, Ungar, Andrea, and Wilde, Arthur

Abstract

Syncopal events in patients with hypertrophic cardiomyopathy (HCM) are of concern as they are a vital consideration in algorithms for risk stratification for sudden cardiac death (SCD) and ICD implantation. However, the cause of syncope is often under-investigated and/or unexplained. Current syncope guidelines do not provide a detailed definition of unexplained syncope. To address this important gap, an international panel of experts in the field of both syncope and HCM wrote a consensus document with the aim of providing practical guidance for the diagnosis and management of syncope in patients with HCM.

Published
2023

21. Spasticity evaluation with the Amadeo Tyromotion device in patients with hemispheric stroke

Author

Urrutia, R., Miren Gutiérrez-Muto, A, Sanz-Morère, C.B., Gómez, Arancha, Politi, A.M., Lunardini, F., Baccini, M., Cecchi, F., León, N., Oliviero, Antonio, Tornero, J., Urrutia, R., Miren Gutiérrez-Muto, A, Sanz-Morère, C.B., Gómez, Arancha, Politi, A.M., Lunardini, F., Baccini, M., Cecchi, F., León, N., Oliviero, Antonio, and Tornero, J.

Abstract

Objective: The objective of this study is to verify the reliability and the concurrent and discriminant validity of the measurements of spasticity offered by the robotic device, quantifying the (1) test–retest reliability, (2) correlation with the clinical evaluation using the Modified Ashworth Scale (MAS), (3) inter-rater reliability between the two physiotherapists, and (4) ability to discriminate between healthy and stroke patients. Methods: A total of 20 stroke patients and 20 healthy volunteers participated in the study. Two physical therapists (PT1 and PT2) independently evaluated the hand spasticity of stroke subjects using the MAS. Spasticity was assessed, both in healthy and stroke patients, with the Amadeo device at three increasing velocities of passive movement for three consecutive repeated assessments, while raw data of force and position were collected through an external program. Data analysis: The intraclass correlation coefficient (ICC) and the weighted kappa were computed to estimate the reliability of the Amadeo device measurements, the inter-rater reliability of MAS, and the correlation between the MAS and Amadeo device measurements. The discriminant ability of the Amadeo device was assessed by comparing the stroke and healthy subjects' spasticity measurements with the percentage of agreements with 0 in MAS for healthy subjects. Results: The test–retest reliability of the Amadeo device was high with ICC at all three velocities (ICC = 0.908, 0.958, and 0.964, respectively) but lower if analyzed with weighted kappa correlation (0.584, 0.748, and 0.749, respectively) as mean values for each velocity. The correlation between Amadeo and the clinical scale for stroke patients with weighted kappa correlation was poor (0.280 ± 0.212 for PT1 and 0.290 ± 0.155 for PT2). The inter-rater reliability of the clinical MAS was high (ICC = 0.911). Conclusion: Both MAS and Amadeo spasticity scores showed good reliability. The Amadeo scores did not show a strong c

Published
2023

23. 24P The predictive and prognostic role of single nucleotide gene variants in PD-1 and PD-L1 in patients with advanced melanoma treated with PD-1 inhibitors

Author

Boutros, A., primary, Carosio, R., additional, Campanella, D., additional, Spagnolo, F., additional, Banelli, B., additional, Morabito, A., additional, Pistillo, M.P., additional, Croce, E., additional, Cecchi, F., additional, Pronzato, P., additional, Queirolo, P., additional, Fontana, V., additional, and Tanda, E.T., additional

Published
2022
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24. 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

28. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

Author

Lopes, Luis R, Losi, Maria-Angela, Sheikh, Nabeel, Laroche, Cécile, Charron, Philippe, Gimeno, Juan, Kaski, Juan P, Maggioni, Aldo P, Tavazzi, Luigi, Arbustini, Eloisa, Brito, Dulce, Celutkiene, Jelena, Hagege, Albert, Linhart, Ales, Mogensen, Jens, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomas, Seggewiss, Hubert, Villacorta, Eduardo, Caforio, Alida, Elliott, Perry M, 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, Helio, T, Nieminen, M S, Dubourg, O, Mansencal, N, Arslan, M, Tsieu, V Siam, Damy, T, Guellich, A, Guendouz, S, Tissot, C M, Lamine, A, Rappeneau, S, Hagege, A, Desnos, M, Bachet, A, Hamzaoui, M, Charron, P, 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, Böhm, 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, Elliott, P, 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, Bezanjani, F Noohi, 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, Olivotto, I, Arretini, A, Castelli, G, Cecchi, F, Fornaro, A, Tomberli, B, Spirito, P, Devoto, E, Bella, P Della, 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, Nardo, C Di, Giamundo, A, Musella, F, Pacelli, F, Scatteia, A, Canciello, G, Caforio, A, Iliceto, S, Calore, C, Leoni, L, Marra, M Perazzolo, Rigato, I, Tarantini, G, Schiavo, A, Testolina, M, Arbustini, E, Toro, A Di, Giuliani, L P, Serio, A, Fedele, F, Frustaci, A, Alfarano, M, Chimenti, C, Drago, F, Baban, A, Calò, L, Lanzillo, C, Martino, A, Uguccioni, M, Zachara, E, Halasz, G, Re, F, Sinagra, G, Carriere, C, Merlo, M, Ramani, F, Kavoliuniene, A, Krivickiene, A, Tamuleviciute-Prasciene, E, Viezelis, M, Celutkiene, J, Balkeviciene, L, Laukyte, M, Paleviciute, E, Pinto, Y, Wilde, A, Asselbergs, F W, Sammani, 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, Tendera, M, Czekaj, A, Sikora-Puz, A, Skoczynska, A, Wybraniec, M, Rubis, P, Dziewiecka, E, Wisniowska-Smialek, S, Bilinska, Z, Chmielewski, P, Nieradko, B Foss, Michalak, E, Stepien-Wojno, M, Mazek, B, Lopes, L Rocha, Almeida, A R, Cruz, I, Gomes, A C, Pereira, A R, Brito, D, Madeira, H, Francisco, A R, Menezes, M, Moldovan, O, Guimaraes, T Oliveira, Silva, D, Ginghina, C, Jurcut, R, Mursa, A, Popescu, B A, Apetrei, E, Militaru, S, Coman, I Mircea, 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, Zdravkovic, M, Aleksic, M, Djokic, J, Hinic, S, Klasnja, S, Mircetic, K, Monserrat, L, Fernandez, X, Garcia-Giustiniani, D, Larrañaga, J M, Ortiz-Genga, M, Barriales-Villa, R, Martinez-Veira, C, Veira, E, Cequier, A, Salazar-Mendiguchia, J, Manito, N, Gonzalez, J, Fernández-Avilés, F, Medrano, C, Yotti, R, Cuenca, S, Espinosa, M A, Mendez, I, Zatarain, E, Alvarez, R, Pavia, P Garcia, Briceno, A, Cobo-Marcos, M, Dominguez, F, Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N, Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A, Gomez-Garcia, D, Robles-Mezcua, M, Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, Ripoll-Vera, T, Alvarez, J, Nunez, J, Gomez, Y, Fernandez, P L Sanchez, 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, Perez, E M Cantero, Zorio, E, Arnau, M A, Sanz, J, Marques-Sule, E, Gale, Christopher Peter, Beleslin, Branko, Budaj, Andrzej, Chioncel, Ovidiu, Dagres, Nikolaos, Danchin, Nicolas, Erlinge, David, Emberson, Jonathan, Glikson, Michael, Gray, Alastair, Kayikcioglu, Meral, Maggioni, Aldo, Nagy, Klaudia Vivien, Nedoshivin, Aleksandr, Petronio, Anna-Sonia, Hesselink, Jolien Roo, Wallentin, Lars, Zeymer, Uwe, Caforio, Alida, Blanes, Juan Ramon Gimeno, Charron, Philippe, Elliott, Perry, Kaski, Juan Pablo, Maggioni, Aldo P, Tavazzi, Luigi, Tendera, Michal, 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., Helio, T., Nieminen, M S, Dubourg, O., Mansencal, N., Arslan, M., Tsieu, V Siam, Damy, T., Guellich, A., Guendouz, S., Tissot, C M, Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Charron, P., 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., Böhm, 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., Elliott, P., 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., Bezanjani, F Noohi, 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., Olivotto, I., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Bella, P Della, 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., Marra, M Perazzolo, 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., Calò, L., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Sinagra, G., Carriere, C., Merlo, M., Ramani, F., Kavoliūnienė, Aušra, Krivickienė, Aušra, Tamulevičiūtė-Prascienė, Eglė, Vieželis, Mindaugas, Balkevičienė, Laura, Laukytė, M., Palevičiūtė, Eglė, Pinto, Y., Wilde, A., Asselbergs, F W, Sammani, 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., Tendera, M., 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., Lopes, L Rocha, Almeida, A R, Cruz, I., Gomes, A C, Pereira, A R, Brito, D., Madeira, H., Francisco, A R, Menezes, M., Moldovan, O., Guimaraes, T Oliveira, Silva, D., Ginghina, C., Jurcut, R., Mursa, A., Popescu, B A, Apetrei, E., Militaru, S., Coman, I Mircea, 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., Zdravkovic, M., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larrañaga, J M, Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernández-Avilés, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M A, Mendez, I., Zatarain, E., Alvarez, R., Pavia, P Garcia, Briceno, A., Cobo-Marcos, M., Dominguez, F., Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N., Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, de Mallorca, Palma, Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Fernandez, P L Sanchez, 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, Perez, E M Cantero, Zorio, E., Arnau, M A, Sanz, J., Marques-Sule, E., Repositório da Universidade de Lisboa, Lopes, Lr, Losi, Ma, Sheikh, N, Laroche, C, Charron, P, Gimeno, J, Kaski, Jp, Maggioni, Ap, Tavazzi, L, Arbustini, E, Brito, D, Celutkiene, J, Hagege, A, Linhart, A, Mogensen, J, Garcia-Pinilla, Jm, Ripoll-Vera, T, Seggewiss, H, Villacorta, E, Caforio, A, and Elliott, Pm

Subjects
Genotype, Health Policy, Diabetes, Cardiovascular risk factors, Hypertension, Hypertrophic cardiomyopathy, Obesity, Cardiomyopathy, Hypertrophic, Ventricular Dysfunction, Left, diabete, Cardiovascular Diseases, Risk Factors, Heart Disease Risk Factors, cardiovascular risk factor, Humans, Female, 03.02. Klinikai orvostan, Cardiology and Cardiovascular Medicine, Cardiomyopathies, obesity
Abstract

© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited., Aims: The interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry. Methods and results: 1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI) and clinical traits was analyzed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene.The prevalence of HT, DM and obesity (Ob) was 37%, 10%, and 21%, respectively. HT, DM and Ob were associated with older age (p

Published
2022

31. SO-7 Co-occurring HER2 and PD-L1 expression in patients with HER2-positive trastuzumab-refractory gastric cancer (GC)/gastroesophageal junction adenocarcinoma (GEJA): Biomarker analysis from the trastuzumab deruxtecan (T-DXd) DESTINY-Gastric03 trial

Author

Janjigian, Y., primary, Rha, S., additional, Oh, D., additional, Díez García, M., additional, van Laarhoven, H., additional, Chao, Y., additional, Di Bartolomeo, M., additional, Haj Mohammad, N., additional, Zhong, W., additional, Croydon, E., additional, Cecchi, F., additional, and Lee, J., additional

Published
2022
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34. Partial Pericardial Agenesis Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy

Author

Castelletti, S, Crotti, L, Dagradi, F, Rella, V, Salerno, S, Parati, G, Cecchi, F, Castelletti S, Crotti L, Dagradi F, Rella V, Salerno S, Parati G, Cecchi F., Castelletti, S, Crotti, L, Dagradi, F, Rella, V, Salerno, S, Parati, G, Cecchi, F, Castelletti S, Crotti L, Dagradi F, Rella V, Salerno S, Parati G, and Cecchi F.

Abstract

Absence of the pericardium is a rare congenital disease in which the fibroserum membrane covering the heart is partially or totally absent. It is characterized by few echocardiography (ECG) and imaging features that can mislead the diagnosis to an inherited cardiac disease, such as arrhythmogenic right ventricular cardiomyopathy. Although it has often a benign course, this congenital defect should be identified as in some cases herniation and strangulation can be life-threatening and cause sudden cardiac death. Red flags on ECG (sinus bradycardia, variable T-wave inversion), chest x-ray (Snoopy sign, absence of tracheal deviation, and esophagus impression), and transthoracic echocardiogram (unusual windows, teardrop left ventricle, and elongated atria) should rise the suspicion of pericardium absence. The correct diagnosis, confirmed by cardiac magnetic resonance, is mandatory as the consequences on the sport activity certification, the management, and the treatment are extremely different.

Published
2020

35. Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy

Author

Maurizi, N, Rella, V, Fumagalli, C, Salerno, S, Castelletti, S, Dagradi, F, Torchio, M, Marceca, A, Meda, M, Gasparini, M, Boschi, B, Girolami, F, Parati, G, Olivotto, I, Crotti, L, Cecchi, F, Maurizi N., Rella V., Fumagalli C., Salerno S., Castelletti S., Dagradi F., Torchio M., Marceca A., Meda M., Gasparini M., Boschi B., Girolami F., Parati G., Olivotto I., Crotti L., Cecchi F., Maurizi, N, Rella, V, Fumagalli, C, Salerno, S, Castelletti, S, Dagradi, F, Torchio, M, Marceca, A, Meda, M, Gasparini, M, Boschi, B, Girolami, F, Parati, G, Olivotto, I, Crotti, L, Cecchi, F, Maurizi N., Rella V., Fumagalli C., Salerno S., Castelletti S., Dagradi F., Torchio M., Marceca A., Meda M., Gasparini M., Boschi B., Girolami F., Parati G., Olivotto I., Crotti L., and Cecchi F.

Abstract

Background: Differential diagnosis of genetic causes of left ventricular hypertrophy (LVH) is crucial for disease-specific therapy. We aim to describe the prevalence of Cardiac Amyloidosis (CA) among patients ≥40 years with an initial diagnosis of HCM referred for second opinion to national cardiomyopathy centres. Methods: Consecutive patients aged ≥40 years referred with a tentative HCM diagnosis in the period 2014–2017 underwent clinical evaluation and genetic testing for HCM (including trans-thyretin-TTR). Patients with at least one red flag for CA underwent blood/urine tests, abdominal fat biopsy and/or bone-scintigraphy tracing and eventually ApoAI sequencing. Results: Out of 343 patients (age 60 ± 13 years), 251 (73%) carried a likely/pathogenic gene variant, including 12 (3.5%) in the CA-associated genes TTR (n = 11) and ApoAI (n = 1). Furthermore, 6 (2%) patients had a mutation in GLA. Among the remaining, mutation-negative patients, 26 with ≥1 CA red-flag were investigated further: 3 AL-CA and 17 wild-type-TTR-CA were identified. Ultimately, 32(9%) patients were diagnosed with CA. Prevalence of CA increased with age: 1/75 (1%) at age 40–49, 2/86 (2%) at age 50–59, 8/84 (9%) at age 60–69, 13/61 (21%) at age 70–79, 8/31 (26%) at age ≥80 (p for trend <0.01). Conclusions: Among patients referred with and initial diagnosis of HCM, CA was the most common unrecognized mimic (9% prevalence) and increased with age (from 1% at ages 40–49 years to 26% >80 years). Age at diagnosis should be considered one of the most relevant red flags for CA in patients with HCM phenotypes; however, there is no clear age cut-off mandating scintigraphy and other second level investigations in the absence of other features suggestive of CA

Published
2020

36. The Challenge of Studying Interaction in Children with Autism Spectrum Disorder during Play Activity with a Robotic Platform

Author

Meucci, P, Zampini, L, Giovannetti, A, Quadraroli, A, D'Arrigo, A, Riva, D, Vago, C, Bulgheroni, S, Cecchi, F, Mannari, I, Falotico, F, Pratesi, A, Passetti, G, Laschi, C, Dario, P, Riva, C, Rossoni, E, Cerniauskaite, M, Leonardi, M, Meucci P., Zampini L., Giovannetti A. M., Quadraroli A., D'Arrigo A. V., Riva D., Vago C., Bulgheroni S., Cecchi F., Mannari I., Falotico F. P., Pratesi A., Passetti G., Laschi C., Dario P., Riva C., Rossoni E., Cerniauskaite M., Leonardi M., Meucci, P, Zampini, L, Giovannetti, A, Quadraroli, A, D'Arrigo, A, Riva, D, Vago, C, Bulgheroni, S, Cecchi, F, Mannari, I, Falotico, F, Pratesi, A, Passetti, G, Laschi, C, Dario, P, Riva, C, Rossoni, E, Cerniauskaite, M, Leonardi, M, Meucci P., Zampini L., Giovannetti A. M., Quadraroli A., D'Arrigo A. V., Riva D., Vago C., Bulgheroni S., Cecchi F., Mannari I., Falotico F. P., Pratesi A., Passetti G., Laschi C., Dario P., Riva C., Rossoni E., Cerniauskaite M., and Leonardi M.

Abstract

The present study aimed to assess the validity of using a robotic platform (RODDI) to increase and enhance communicative exchanges between educators and children with Autism Spectrum Disorder (ASD) and intellectual disability. Nine children with ASD and intellectual disability and their educators took part in the study. Their communicative exchanges were assessed in two different settings: a normal play session and a RODDI play session. RODDI platform did not appear to enhance communicative exchanges in children with ASD. They produced a significantly lower number of vocal productions to the educators in the RODDI play sessions than in the normal ones. Even the educators’ vocal production was significantly lower in quantitative and qualitative terms in the RODDI play sessions. However, analysing children’s gaze direction, RODDI appeared to enhance children’s attention on the task. The benefits of using robotic platforms with children with ASD should be further investigated.

Published
2020

38. Spin of information and inconsistency between abstract and full text in RCTs investigating upper limb rehabilitation after stroke: An overview study

Author

Tosatto, D, Bonacina, D, Signori, A, Pellicciari, L, Cecchi, F, Cornaggia, C, Piscitelli, D, Tosatto, Diego, Bonacina, Daniele, Signori, Alessio, Pellicciari, Leonardo, Cecchi, Francesca, Cornaggia, Cesare Maria, Piscitelli, Daniele, Tosatto, D, Bonacina, D, Signori, A, Pellicciari, L, Cecchi, F, Cornaggia, C, Piscitelli, D, Tosatto, Diego, Bonacina, Daniele, Signori, Alessio, Pellicciari, Leonardo, Cecchi, Francesca, Cornaggia, Cesare Maria, and Piscitelli, Daniele

Abstract

Background: Researchers may be tempted to favorably distort the interpretation of their findings when reporting the abstract (i.e., spin). Spin bias overemphasizes the beneficial effects of the intervention compared with the results shown in the full text. Objective: To assess the occurrence of spin bias and incompleteness in reporting abstracts in post-stroke upper limb (UL) rehabilitation randomized clinical trials (RCTs). Methods: A sample of 120 post-stroke UL rehabilitation RCTs (indexed in PEDro database), published in English between 2012 and 2020, was included. The completeness of reporting and spin were assessed using the Consolidated Standards of Reporting Trials for Abstracts (CONSORT-A) and the spin checklist. The relationship between CONSORT-A and spin checklist scores with RCT and journal characteristics was assessed. Results: CONSORT-A and spin checklist scored 5.3±2.4 (max 15-points, higher scores indicating better reporting) and 5.5±2.0 (max 7-points, higher scores indicating presence of spin), respectively; Significant differences were detected between abstract and full-text scores in the CONSORT-A checklist (p < 0.01) and the spin checklist (p < 0.01). Items of the CONSORT-A checklist in the abstracts and full text showed a fair agreement (k = 0.31), while a moderate agreement (k = 0.59) for the spin checklist was detected. Completeness of abstract was associated (R2 = 0.46) with journal Impact Factor (p < 0.01), CONSORT Guideline endorsement (p = 0.04), and abstract word number (p = 0.02). A lower spin was associated with a higher journal Impact Factor (p = 0.01) and CONSORT Guideline endorsement (p = 0.01). Conclusions: Post-stroke UL rehabilitation RCTs abstracts were largely incomplete showing spin. Authors, reviewers, publishers, and stakeholders should be aware of this phenomenon. Publishers should consider allowing more words in abstracts to improve the completeness of reporting abstracts. Although we have investigated only stroke

Published
2022

39. MEchatronic REspiratory System SImulator for Neonatal Applications (MERESSINA) project: a novel bioengineering goal

Author

Scaramuzzo RT, Ciantelli M, Baldoli I, Bellanti L, Gentile M, Cecchi F, Sigali E, Tognarelli S, Ghirri P, Mazzoleni S, Menciassi A, Cuttano A, Boldrini A, Laschi C, and Dario P

Subjects
Medical technology, R855-855.5
Abstract

Rosa T Scaramuzzo,1,2 Massimiliano Ciantelli,1 Ilaria Baldoli,3 Lisa Bellanti,3 Marzia Gentile,1 Francesca Cecchi,3 Emilio Sigali,1 Selene Tognarelli,3 Paolo Ghirri,1–4 Stefano Mazzoleni,3 Arianna Menciassi,3 Armando Cuttano,1 Antonio Boldrini,1–4 Cecilia Laschi,3 Paolo Dario3 1Centro di Formazione e Simulazione Neonatale "NINA," UO Neonatologia, Azienda Ospedaliera Universitaria Pisana, Pisa, Italy; 2Istituto di Scienze della Vita, 3The BioRobotics Institute, Scuola Superiore Sant'Anna, Pisa, Italy; 4Università di Pisa, Pisa, Italy Abstract: Respiratory function is mandatory for extrauterine life, but is sometimes impaired in newborns due to prematurity, congenital malformations, or acquired pathologies. Mechanical ventilation is standard care, but long-term complications, such as bronchopulmonary dysplasia, are still largely reported. Therefore, continuous medical education is mandatory to correctly manage devices for assistance. Commercially available breathing function simulators are rarely suitable for the anatomical and physiological realities. The aim of this study is to develop a high-fidelity mechatronic simulator of neonatal airways and lungs for staff training and mechanical ventilator testing. The project is divided into three different phases: (1) a review study on respiratory physiology and pathophysiology and on already available single and multi-compartment models; (2) the prototyping phase; and (3) the on-field system validation. Keywords: simulation, lung, newborn, continuous medical education, respiratory system

Published
2013

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