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1. Clinical Management of Brugada Syndrome: Commentary From the Experts

Author: Cutler, M, Eckhardt, L, Kaufman, E, Arbelo, E, Behr, E, Brugada, P, Cerrone, M, Crotti, L, Deasmundis, C, Gollob, M, Horie, M, Huang, D, Krahn, A, London, B, Lubitz, S, Mackall, J, Nademanee, K, Perez, M, Probst, V, Roden, D, Sacher, F, Sarquella-Brugada, G, Scheinman, M, Shimizu, W, Shoemaker, B, Sy, R, Watanabe, A, Wilde, A, Cutler M. J., Eckhardt L. L., Kaufman E. S., Arbelo E., Behr E. R., Brugada P., Cerrone M., Crotti L., deAsmundis C., Gollob M. H., Horie M., Huang D. T., Krahn A. D., London B., Lubitz S. A., Mackall J. A., Nademanee K., Perez M. V., Probst V., Roden D. M., Sacher F., Sarquella-Brugada G., Scheinman M. M., Shimizu W., Shoemaker B., Sy R. W., Watanabe A., Wilde A. A. M., Cutler, M, Eckhardt, L, Kaufman, E, Arbelo, E, Behr, E, Brugada, P, Cerrone, M, Crotti, L, Deasmundis, C, Gollob, M, Horie, M, Huang, D, Krahn, A, London, B, Lubitz, S, Mackall, J, Nademanee, K, Perez, M, Probst, V, Roden, D, Sacher, F, Sarquella-Brugada, G, Scheinman, M, Shimizu, W, Shoemaker, B, Sy, R, Watanabe, A, Wilde, A, Cutler M. J., Eckhardt L. L., Kaufman E. S., Arbelo E., Behr E. R., Brugada P., Cerrone M., Crotti L., deAsmundis C., Gollob M. H., Horie M., Huang D. T., Krahn A. D., London B., Lubitz S. A., Mackall J. A., Nademanee K., Perez M. V., Probst V., Roden D. M., Sacher F., Sarquella-Brugada G., Scheinman M. M., Shimizu W., Shoemaker B., Sy R. W., Watanabe A., and Wilde A. A. M.
Abstract: Although there is consensus on the management of patients with Brugada Syndrome with high risk for sudden cardiac arrest, asymptomatic or intermediate-risk patients present clinical management challenges. This document explores the management opinions of experts throughout the world for patients with Brugada Syndrome who do not fit guideline recommendations. Four real-world clinical scenarios were presented with commentary from small expert groups for each case. All authors voted on case-specific questions to evaluate the level of consensus among the entire group in nuanced diagnostic and management decisions relevant to each case. Points of agreement, points of controversy, and gaps in knowledge are highlighted.
Published: 2024

2. Leaky RyR2 channels as pro-arrhythmic trigger in the PKP2-deficient atrial myocardium

Author: Van Opbergen, C J M, primary, Phadke, K, additional, Lin, X, additional, Zhang, M, additional, Lundby, A, additional, Cerrone, M, additional, and Delmar, M, additional
Published: 2024
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3. Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

Author: Crotti, L, Spazzolini, C, Nyegaard, M, Overgaard, M, Kotta, M, Dagradi, F, Sala, L, Aiba, T, Ayers, M, Baban, A, Barc, J, Beach, C, Behr, E, Bos, J, Cerrone, M, Covi, P, Cuneo, B, Denjoy, I, Donner, B, Elbert, A, Eliasson, H, Etheridge, S, Fukuyama, M, Girolami, F, Hamilton, R, Horie, M, Iascone, M, Jaimez, J, Jensen, H, Kannankeril, P, Kaski, J, Makita, N, Muñoz-Esparza, C, Odland, H, Ohno, S, Papagiannis, J, Porretta, A, Prandstetter, C, Probst, V, Robyns, T, Rosenthal, E, Rosés-Noguer, F, Sekarski, N, Singh, A, Spentzou, G, Stute, F, Tfelt-Hansen, J, Till, J, Tobert, K, Vinocur, J, Webster, G, Wilde, A, Wolf, C, Ackerman, M, Schwartz, P, Crotti L., Spazzolini C., Nyegaard M., Overgaard M. T., Kotta M. C., Dagradi F., Sala L., Aiba T., Ayers M. D., Baban A., Barc J., Beach C. M., Behr E. R., Bos J. M., Cerrone M., Covi P., Cuneo B., Denjoy I., Donner B., Elbert A., Eliasson H., Etheridge S. P., Fukuyama M., Girolami F., Hamilton R., Horie M., Iascone M., Jaimez J. J., Jensen H. K., Kannankeril P. J., Kaski J. P., Makita N., Muñoz-Esparza C., Odland H. H., Ohno S., Papagiannis J., Porretta A. P., Prandstetter C., Probst V., Robyns T., Rosenthal E., Rosés-Noguer F., Sekarski N., Singh A., Spentzou G., Stute F., Tfelt-Hansen J., Till J., Tobert K. E., Vinocur J. M., Webster G., Wilde A. A. M., Wolf C. M., Ackerman M. J., Schwartz P. J., Crotti, L, Spazzolini, C, Nyegaard, M, Overgaard, M, Kotta, M, Dagradi, F, Sala, L, Aiba, T, Ayers, M, Baban, A, Barc, J, Beach, C, Behr, E, Bos, J, Cerrone, M, Covi, P, Cuneo, B, Denjoy, I, Donner, B, Elbert, A, Eliasson, H, Etheridge, S, Fukuyama, M, Girolami, F, Hamilton, R, Horie, M, Iascone, M, Jaimez, J, Jensen, H, Kannankeril, P, Kaski, J, Makita, N, Muñoz-Esparza, C, Odland, H, Ohno, S, Papagiannis, J, Porretta, A, Prandstetter, C, Probst, V, Robyns, T, Rosenthal, E, Rosés-Noguer, F, Sekarski, N, Singh, A, Spentzou, G, Stute, F, Tfelt-Hansen, J, Till, J, Tobert, K, Vinocur, J, Webster, G, Wilde, A, Wolf, C, Ackerman, M, Schwartz, P, Crotti L., Spazzolini C., Nyegaard M., Overgaard M. T., Kotta M. C., Dagradi F., Sala L., Aiba T., Ayers M. D., Baban A., Barc J., Beach C. M., Behr E. R., Bos J. M., Cerrone M., Covi P., Cuneo B., Denjoy I., Donner B., Elbert A., Eliasson H., Etheridge S. P., Fukuyama M., Girolami F., Hamilton R., Horie M., Iascone M., Jaimez J. J., Jensen H. K., Kannankeril P. J., Kaski J. P., Makita N., Muñoz-Esparza C., Odland H. H., Ohno S., Papagiannis J., Porretta A. P., Prandstetter C., Probst V., Robyns T., Rosenthal E., Rosés-Noguer F., Sekarski N., Singh A., Spentzou G., Stute F., Tfelt-Hansen J., Till J., Tobert K. E., Vinocur J. M., Webster G., Wilde A. A. M., Wolf C. M., Ackerman M. J., and Schwartz P. J.
Abstract: Aims: Calmodulinopathy due to mutations in any of the three CALM genes (CALM1-3) causes life-threatening arrhythmia syndromes, especially in young individuals. The International Calmodulinopathy Registry (ICalmR) aims to define and link the increasing complexity of the clinical presentation to the underlying molecular mechanisms. Methods and results: The ICalmR is an international, collaborative, observational study, assembling and analysing clinical and genetic data on CALM-positive patients. The ICalmR has enrolled 140 subjects (median age 10.8 years [interquartile range 5-19]), 97 index cases and 43 family members. CALM-LQTS and CALM-CPVT are the prevalent phenotypes. Primary neurological manifestations, unrelated to post-anoxic sequelae, manifested in 20 patients. Calmodulinopathy remains associated with a high arrhythmic event rate (symptomatic patients, n = 103, 74%). However, compared with the original 2019 cohort, there was a reduced frequency and severity of all cardiac events (61% vs. 85%; P =. 001) and sudden death (9% vs. 27%; P =. 008). Data on therapy do not allow definitive recommendations. Cardiac structural abnormalities, either cardiomyopathy or congenital heart defects, are present in 30% of patients, mainly CALM-LQTS, and lethal cases of heart failure have occurred. The number of familial cases and of families with strikingly different phenotypes is increasing. Conclusion: Calmodulinopathy has pleiotropic presentations, from channelopathy to syndromic forms. Clinical severity ranges from the early onset of life-threatening arrhythmias to the absence of symptoms, and the percentage of milder and familial forms is increasing. There are no hard data to guide therapy, and current management includes pharmacological and surgical antiadrenergic interventions with sodium channel blockers often accompanied by an implantable cardioverter-defibrillator.
Published: 2023

4. Ca2+ dysregulation in cardiac stromal cells sustains fibro-adipose remodeling in Arrhythmogenic Cardiomyopathy and can be modulated by flecainide

Author: Maione, A, Faris, P, Iengo, L, Catto, V, Bisonni, L, Lodola, F, Negri, S, Casella, M, Guarino, A, Polvani, G, Cerrone, M, Tondo, C, Pompilio, G, Sommariva, E, Moccia, F, Maione A. S., Faris P., Iengo L., Catto V., Bisonni L., Lodola F., Negri S., Casella M., Guarino A., Polvani G., Cerrone M., Tondo C., Pompilio G., Sommariva E., Moccia F., Maione, A, Faris, P, Iengo, L, Catto, V, Bisonni, L, Lodola, F, Negri, S, Casella, M, Guarino, A, Polvani, G, Cerrone, M, Tondo, C, Pompilio, G, Sommariva, E, Moccia, F, Maione A. S., Faris P., Iengo L., Catto V., Bisonni L., Lodola F., Negri S., Casella M., Guarino A., Polvani G., Cerrone M., Tondo C., Pompilio G., Sommariva E., and Moccia F.
Abstract: Background: Cardiac mesenchymal stromal cells (C-MSC) were recently shown to differentiate into adipocytes and myofibroblasts to promote the aberrant remodeling of cardiac tissue that characterizes arrhythmogenic cardiomyopathy (ACM). A calcium (Ca2+) signaling dysfunction, mainly demonstrated in mouse models, is recognized as a mechanism impacting arrhythmic risk in ACM cardiomyocytes. Whether similar mechanisms influence ACM C-MSC fate is still unknown. Thus, we aim to ascertain whether intracellular Ca2+ oscillations and the Ca2+ toolkit are altered in human C-MSC obtained from ACM patients, and to assess their link with C-MSC-specific ACM phenotypes. Methods and results: ACM C-MSC show enhanced spontaneous Ca2+ oscillations and concomitant increased Ca2+/Calmodulin dependent kinase II (CaMKII) activation compared to control cells. This is manly linked to a constitutive activation of Store-Operated Ca2+ Entry (SOCE), which leads to enhanced Ca2+ release from the endoplasmic reticulum through inositol-1,4,5-trisphosphate receptors. By targeting the Ca2+ handling machinery or CaMKII activity, we demonstrated a causative link between Ca2+ oscillations and fibro-adipogenic differentiation of ACM C-MSC. Genetic silencing of the desmosomal gene PKP2 mimics the remodelling of the Ca2+ signalling machinery occurring in ACM C-MSC. The anti-arrhythmic drug flecainide inhibits intracellular Ca2+ oscillations and fibro-adipogenic differentiation by selectively targeting SOCE. Conclusions: Altogether, our results extend the knowledge of Ca2+ dysregulation in ACM to the stromal compartment, as an etiologic mechanism of C-MSC-related ACM phenotypes. A new mode of action of flecainide on a novel mechanistic target is unveiled against the fibro-adipose accumulation in ACM.
Published: 2022

5. β-Blockers as Antiarrhythmic Agents

Author: Priori, S.G., Napolitano, C., Cerrone, M., Kass, Robert S., editor, and Clancy, Colleen E., editor
Published: 2006
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6. Experimental Therapy of Genetic Arrhythmias: Disease-Specific Pharmacology

Author: Priori, S.G., Napolitano, C., Cerrone, M., Kass, Robert S., editor, and Clancy, Colleen E., editor
Published: 2006
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7. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)

Author: Julien Barc, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, Connie R. Bezzina, Julien Barc, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, and Connie R. Bezzina
Abstract: In the version of this article initially published, Federico Manevy’s name appeared with a middle initial in error. The name has been corrected in the HTML and PDF versions of the article.
Published: 2022

8. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Author: Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, Connie R. Bezzina, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, and Connie R. Bezzina
Abstract: Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on NaV1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings.
Published: 2022

9. HCV NS3 sequencing as a reliable and clinically useful tool for the assessment of genotype and resistance mutations for clinical samples with different HCV-RNA levels

Author: Di Maio, V. C., Cento, V., Di Paolo, D., Aragri, M., De Leonardis, F., Tontodonati, M., Micheli, V., Bellocchi, M. C., Antonucci, F. P., Bertoli, A., Lenci, I., Milana, M., Gianserra, L., Melis, M., Di Biagio, A., Sarrecchia, C., Sarmati, L., Landonio, S., Francioso, S., Lambiase, L., Nicolini, L. A., Marenco, S., Nosotti, L., Giannelli, V., Siciliano, M., Romagnoli, D., Pellicelli, A., Vecchiet, J., Magni, C. F., Babudieri, S., Mura, M. S., Taliani, G., Mastroianni, C., Vespasiani-Gentilucci, U., Romano, M., Morisco, F., Gasbarrini, A., Vullo, V., Bruno, S., Baiguera, C., Pasquazzi, C., Tisone, G., Picciotto, A., Andreoni, M., Parruti, G., Rizzardini, G., Angelico, M., Perno, C. F., Ceccherini-Silberstein, F., Mariani, R., Paoloni, M., Iapadre, N., Grimaldi, A., Menzaghi, B., Quirino, T., Vecchiet, J., Bruzzone, B., De Maria, A., Di Biagio, A., Marenco, S., Nicolini, L. A., Picciotto, A., Viscoli, C., Casinelli, K., Monache, M. Delle, Lichtner, M., Mastroianni, C., Aghemo, A., Bruno, S., Cerrone, M., Colombo, M., Monforte, A. DʼArminio, Danieli, E., Donato, F., Gubertini, G., Landonio, S., Magni, C. F., Mancon, A., Micheli, V., Monico, S., Niero, F., Puoti, M., Rizzardini, G., Russo, M. L., Alfieri, R., Gnocchi, M., Orro, A., Milanesi, L., Baldelli, E., Bertolotti, M., Borghi, V., Mussini, C., Romagnoli, D., Brancaccio, G., Caporaso, N., Gaeta, G. B., Lembo, V., Morisco, F., Calvaruso, V., Craxì, A., Di Marco, V., Mazzola, A., Petta, S., DʼAmico, E., Cacciatore, P., Consorte, A., Palitti, V. Pace, Parruti, G., Pieri, A., Polilli, E., Tontodonati, M., Andreoni, M., Angelico, M., Antenucci, F., Antonucci, F. P., Aragri, M., Armenia, D., Baiocchi, L., Bellocchi, M., Bertoli, A., Biliotti, E., Biolato, M., Carioti, L., Ceccherini-Silberstein, F., Cento, V., Cerasari, G., Cerva, C., Ciotti, M., DʼAmbrosio, C., DʼEttorre, G., De Leonardis, F., De Sanctis, A., Di Maio, V. C., Di Paolo, D., Francioso, S., Furlan, C., Gallo, P., Gasbarrini, A., Giannelli, V., Gianserra, L., Grieco, A., Grieco, S., Lambiase, L., Lattanzi, B., Lenci, I., Malagnino, V., Manuelli, M., Merli, M., Miglioresi, L., Milana, M., Nosotti, L., Palazzo, D., Pasquazzi, C., Pellicelli, A., Perno, C. F., Romano, M., Santopaolo, F., Santoro, M. M., Sarmati, L., Sarrecchia, C., Sforza, D., Siciliano, M., Sorbo, M. C., Spaziante, M., Svicher, V., Taliani, G., Teti, E., Tisone, G., Vespasiani-Gentilucci, U., Vullo, V., Mangia, A., Babudieri, S., Maida, I., Melis, M., Mura, M. S., Falconi, L., Di Giammartino, D., and Tarquini, P.
Published: 2016
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10. Calmodulin mutations and life-threatening cardiac arrhythmias: Insights from the International Calmodulinopathy Registry

Author: Crotti, L, Spazzolini, C, Tester, D, Ghidoni, A, Baruteau, A, Beckmann, B, Behr, E, Bennett, J, Bezzina, C, Bhuiyan, Z, Celiker, A, Cerrone, M, Dagradi, F, De Ferrari, G, Etheridge, S, Fatah, M, Garcia-Pavia, P, Al-Ghamdi, S, Hamilton, R, Al-Hassnan, Z, Horie, M, Jimenez-Jaimez, J, Kanter, R, Kaski, J, Kotta, M, Lahrouchi, N, Makita, N, Norrish, G, Odland, H, Ohno, S, Papagiannis, J, Parati, G, Sekarski, N, Tveten, K, Vatta, M, Webster, G, Wilde, A, Wojciak, J, George, A, Ackerman, M, Schwartz, P, Crotti L., Spazzolini C., Tester D. J., Ghidoni A., Baruteau A. -E., Beckmann B. -M., Behr E. R., Bennett J. S., Bezzina C. R., Bhuiyan Z. A., Celiker A., Cerrone M., Dagradi F., De Ferrari G. M., Etheridge S. P., Fatah M., Garcia-Pavia P., Al-Ghamdi S., Hamilton R. M., Al-Hassnan Z. N., Horie M., Jimenez-Jaimez J., Kanter R. J., Kaski J. P., Kotta M. -C., Lahrouchi N., Makita N., Norrish G., Odland H. H., Ohno S., Papagiannis J., Parati G., Sekarski N., Tveten K., Vatta M., Webster G., Wilde A. A. M., Wojciak J., George A. L., Ackerman M. J., Schwartz P. J., Crotti, L, Spazzolini, C, Tester, D, Ghidoni, A, Baruteau, A, Beckmann, B, Behr, E, Bennett, J, Bezzina, C, Bhuiyan, Z, Celiker, A, Cerrone, M, Dagradi, F, De Ferrari, G, Etheridge, S, Fatah, M, Garcia-Pavia, P, Al-Ghamdi, S, Hamilton, R, Al-Hassnan, Z, Horie, M, Jimenez-Jaimez, J, Kanter, R, Kaski, J, Kotta, M, Lahrouchi, N, Makita, N, Norrish, G, Odland, H, Ohno, S, Papagiannis, J, Parati, G, Sekarski, N, Tveten, K, Vatta, M, Webster, G, Wilde, A, Wojciak, J, George, A, Ackerman, M, Schwartz, P, Crotti L., Spazzolini C., Tester D. J., Ghidoni A., Baruteau A. -E., Beckmann B. -M., Behr E. R., Bennett J. S., Bezzina C. R., Bhuiyan Z. A., Celiker A., Cerrone M., Dagradi F., De Ferrari G. M., Etheridge S. P., Fatah M., Garcia-Pavia P., Al-Ghamdi S., Hamilton R. M., Al-Hassnan Z. N., Horie M., Jimenez-Jaimez J., Kanter R. J., Kaski J. P., Kotta M. -C., Lahrouchi N., Makita N., Norrish G., Odland H. H., Ohno S., Papagiannis J., Parati G., Sekarski N., Tveten K., Vatta M., Webster G., Wilde A. A. M., Wojciak J., George A. L., Ackerman M. J., and Schwartz P. J.
Abstract: Aims: Calmodulinopathies are rare life-threatening arrhythmia syndromes which affect mostly young individuals and are, caused by mutations in any of the three genes (CALM 1-3) that encode identical calmodulin proteins. We established the International Calmodulinopathy Registry (ICalmR) to understand the natural history, clinical features, and response to therapy of patients with a CALM-mediated arrhythmia syndrome. Methods and results: A dedicated Case Report File was created to collect demographic, clinical, and genetic information. ICalmR has enrolled 74 subjects, with a variant in the CALM1 (n = 36), CALM2 (n = 23), or CALM3 (n = 15) genes. Sixty-four (86.5%) were symptomatic and the 10-year cumulative mortality was 27%. The two prevalent phenotypes are long QT syndrome (LQTS; CALM-LQTS, n = 36, 49%) and catecholaminergic polymorphic ventricular tachycardia (CPVT; CALM-CPVT, n = 21, 28%). CALM-LQTS patients have extremely prolonged QTc intervals (594 ± 73 ms), high prevalence (78%) of life-threatening arrhythmias with median age at onset of 1.5 years [interquartile range (IQR) 0.1-5.5 years] and poor response to therapies. Most electrocardiograms (ECGs) show late onset peaked T waves. All CALM-CPVT patients were symptomatic with median age of onset of 6.0 years (IQR 3.0-8.5 years). Basal ECG frequently shows prominent U waves. Other CALM-related phenotypes are idiopathic ventricular fibrillation (IVF, n = 7), sudden unexplained death (SUD, n = 4), overlapping features of CPVT/LQTS (n = 3), and predominant neurological phenotype (n = 1). Cardiac structural abnormalities and neurological features were present in 18 and 13 patients, respectively. Conclusion: Calmodulinopathies are largely characterized by adrenergically-induced life-threatening arrhythmias. Available therapies are disquietingly insufficient, especially in CALM-LQTS. Combination therapy with drugs, sympathectomy, and devices should be considered.
Published: 2019

11. Can an Infection with SARS COV-2 cause or Exacerbate Rheumatoid Arthritis? Description of A Clinical Case

Author: Cavallera A, Naclerio C, Mennella G, Cerrone M, and Scarpato S
Subjects: fungi, skin and connective tissue diseases
Abstract: Infectious disease can activate the immune system favoring a highly inflammatory response. Rheumatoid Arthritis is a long term inflammatory disease characterized by an autoimmune trigger. What happens when SARS COV 2 infection occurs in a patient suffering from early stage of rheumatoid arthritis? In this clinical case we want to highlight that the infection by SARS COV 2 could esacerbate or precipitate a clinical picture of Rheumatoid Arthritis. This condition should make you reflect on the probable therapeutic implications.
Published: 2021

12. Communicable and non-communicable co-morbidities and the presentation of COVID-19 in an African setting of high HIV-1 and tuberculosis prevalence

Author: Du Bruyn, E, Stek, C, Daroowala, R, Said-Hartley, Q, Hsiao, M, Goliath, R, Abrahams, F, Jackson, A, Wasserman, S, Allwood, B, Davis, A, Lai, RP-J, Coussens, A, Wilkinson, K, De Vries, J, Tiffin, N, Cerrone, M, Ntusi, N, Riou, C, Wilkinson, R, Aziz, S, Bangani, N, Black, J, Bremer, M, Burgers, W, Ciko, Z, Esmail, H, Gordon, S, Harley, Y, Lakay, F, Martinez-Estrada, F-O, Meintjes, G, Mendelson, M, Papavarnavas, T, Proust, A, Ruzive, S, Schafer, G, Serole, K, Whitaker, C, and Zvinairo, K
Abstract: Objectives To describe the presentation and outcome of SARS-CoV2 infection in an African setting of high non-communicable co-morbidity and also HIV-1 and tuberculosis prevalence. Design Case control analysis with cases stratified by HIV-1 and tuberculosis status. Setting A single-centre observational case-control study of adults admitted to a South African hospital with proven SARS-CoV-2 infection or alternative diagnosis. Participants 104 adults with RT-PCR-proven SARS-CoV2 infection of which 55 (52.9%) were male and 31 (29.8%) HIV-1 co-infected. 40 adults (35.7% male, 30.9% HIV-1 co-infected) admitted during the same period with no RT-PCR or serological evidence of SARS-CoV2 infection and assigned alternative diagnoses. Additional in vitro data from prior studies of 72 healthy controls and 118 HIV-1 uninfected and infected persons participants enrolled to a prior study with either immune evidence of tuberculosis sensitization but no symptoms or microbiologically confirmed pulmonary tuberculosis. Results Two or more co-morbidities were present in 57.7% of 104 RT-PCR proven COVID-19 presentations, the commonest being hypertension (48%), type 2 diabetes mellitus (39%), obesity (31%) but also HIV-1 (30%) and active tuberculosis (14%). Amongst patients dually infected by tuberculosis and SARS-CoV-2, clinical features could be dominated by either SARS-CoV-2 or tuberculosis: lymphopenia was exacerbated, and some markers of inflammation (D-dimer and ferritin) elevated in singly SARS-CoV-2 infected patients were even further elevated (p < 0.05). HIV-1 and SARS-CoV2 co-infection resulted in lower absolute number and proportion of CD4 lymphocytes, with those in the lowest peripheral CD4 percentage strata exhibiting absent or lower antibody responses against SARS-CoV2. Death occurred in 30/104 (29%) of all COVID-19 patients and in 6/15 (40%) of patients with coincident SARS-CoV-2 and tuberculosis. Conclusions In this South African setting, HIV-1 and tuberculosis are common co-morbidities in patients presenting with COVID-19. In environments in which tuberculosis is common, SARS-CoV-2 and tuberculosis may co-exist with clinical presentation being typical of either disease. Clinical suspicion of exacerbation of co-existent tuberculosis accompanying SARS-CoV-2 should be high. What is already known on this topic?It has been quite widely thought that Africa has been spared the worst effects of the COVID-19 pandemic. There are very few reported case series and no case-control studies comparing COVID-19 patients admitted to hospital to those admitted for other reasons. However several studies have indicated both HIV-1 and tuberculosis co-infection that are endemic in Africa constitute risk factors for poor outcome. In addition Africa is subject to demographic transition and the prevalence of non-communicable co-morbidities such as type 2 diabetes, hypertension and cardiovascular disease is rising rapidly. No study from Africa has described the clinical impact on the presentation of COVID-19 infection. What this study adds Two or more co-morbidities were present in over half COVID-19 presentations, including HIV-1 (30%) and active tuberculosis (14%). Patients dually infected by tuberculosis and SARS-CoV-2, presented as either SARS-CoV-2 or tuberculosis. HIV-1 and SARS-CoV2 co-infection resulted in lower absolute number and proportion of CD4 lymphocytes, and those with low CD4 counts had absent or lower antibody responses against SARS-CoV2. Death occurred 29% of all COVID-19 patients and in 40% of patients with coincident SARS-CoV-2 and tuberculosis. Thus in environments in which tuberculosis is common, SARS-CoV-2 and tuberculosis may co-exist with clinical presentation being typical of either disease and clinical suspicion of exacerbation of co-existent tuberculosis accompanying SARS-CoV-2 should be high. Competing Interest Statement The authors have declared no competing interest. Funding Statement This research was funded in whole, or in part, by Wellcome [104803, 203135, 222754]. For the purpose of Open Access, the author has applied a CC BY public copyright licence to any Author Accepted Manuscript version arising from this submission. RJW was supported by the Francis Crick Institute which receives its core funding from Cancer Research UK (FC0010218), the UK Medical Research Council (FC0010218), and Wellcome (FC0010218).
Published: 2021

13. 1189P Mixed neuroendocrine-non neuroendocrine neoplasms (MiNEN): Characterization of the genomic and pathological profile

Author: Di Mauro, A., Tatangelo, F., Tafuto, S., Cantile, M., Chianese, U., Benedetti, R., Conte, M., Cerrone, M., Scognamiglio, G., Nebbioso, A., and Altucci, L.
Published: 2023
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14. Pharmacological impact of antiretroviral therapy on platelet function to investigate HIV-associated cardiovascular risk

Author: Taylor, KA, Smyth, E, Rauzi, F, Cerrone, M, Khawaja, AA, Gazzard, B, Nelson, M, Boffito, M, Emerson, M, St Stephen's Aids Trust, NC3Rs (National Centre for the Replacement, Refinement and Reduction of Animals in Research), and Gilead Sciences Inc
Subjects: TENOFOVIR DISOPROXIL FUMARATE, Science & Technology, NITRIC-OXIDE, HIV-1 INFECTION, CONCISE GUIDE, DOUBLE-BLIND, MYOCARDIAL-INFARCTION, INFLAMMATION, ABACAVIR, EMTRICITABINE, Pharmacology & Pharmacy, ALAFENAMIDE, 1115 Pharmacology and Pharmaceutical Sciences, Life Sciences & Biomedicine
Abstract: Background and purpose Some clinical studies have reported increased myocardial infarction in people living with HIV taking the antiretroviral abacavir sulphate (ABC). Given that clinical studies contain confounding variables (e.g. HIV status), we investigated the pharmacological impact of antiretrovirals on platelet function in HIV‐negative volunteers in order to identify mechanisms of increased cardiovascular risk. Experimental approach Platelets were isolated from healthy volunteers and HIV‐negative subjects enrolled on a Phase I clinical trial and platelet function evaluated using aggregometry and flow cytometry. In vivo platelet thromboembolism was monitored in anaesthetised mice. Key results Human platelet aggregation was unaffected by all antiretrovirals tested but ABC treatment led uniquely to increased platelet granule release. ABC also interrupted nitric oxide (NO)‐mediated inhibition of platelet aggregation and increased in vivo aggregation in mice. An alternative antiretroviral, tenofovir, did not affect platelet function. Furthermore, aggregation and activation of platelets isolated from twenty subjects taking clinically‐relevant doses of tenofovir were comparable to baseline samples. Conclusions and implications ABC can enhance platelet activation, independently of HIV status suggesting a potential pharmacological effect that is absent with tenofovir. Mechanistically, we propose that ABC enhances platelet degranulation and interrupts NO‐mediated platelet inhibition. The interaction of ABC with NO signalling is supported by data demonstrating ABC‐mediated enhancement of aggregation in vivo and in vitro responses that persist in the presence of NO. Although an association between ABC and platelet activation has not been confirmed in patients, these findings provide evidence of a mechanistic link between platelet activation and antiretroviral therapy.
Published: 2018

15. The short QT syndrome as a paradigm to understand the role of potassium channels in ventricular fibrillation

Author: CERRONE, M., NOUJAIM, S., and JALIFE, J.
Published: 2006

16. HCV NS3 sequencing as a reliable and clinically useful tool for the assessment of genotype and resistance mutations for clinical samples with different HCV-RNA levels

Author: Di Maio, V C, Cento, V, Di Paolo, D, Aragri, M, De Leonardis, F, Tontodonati, M, Micheli, V, Bellocchi, M C, Antonucci, F P, Bertoli, A, Lenci, I, Milana, M, Gianserra, L, Melis, M, Di Biagio, A, Sarrecchia, C, Sarmati, L, Landonio, S, Francioso, S, Lambiase, L, Nicolini, L A, Marenco, S, Nosotti, L, Giannelli, V, Siciliano, M, Romagnoli, D, Pellicelli, A, Vecchiet, J, Magni, C F, Babudieri, S, Mura, M S, Taliani, G, Mastroianni, C, Vespasiani-Gentilucci, U, Romano, M, Morisco, F, Gasbarrini, A, Vullo, V, Bruno, S, Baiguera, C, Pasquazzi, C, Tisone, G, Picciotto, A, Andreoni, M, Parruti, G, Rizzardini, G, Angelico, M, Perno, C F, Ceccherini-Silberstein, F, Collaborators (129) Mariani R, HCV Italian Resistance Network Study Group., Paoloni, M, Iapadre, N, Grimaldi, A, Menzaghi, B, Quirino, T, Bruzzone, B, De Maria, A, Nicolini, La, Viscoli, C, Casinelli, K, Monache, Md, Lichtner, M, Aghemo, A, Cerrone, M, Colombo, M, Monforte, Ad, Danieli, E, Donato, F, Gubertini, G, Magni, Cf, Mancon, A, Monico, S, Niero, F, Puoti, M, Russo, Ml, Alfieri, R, Gnocchi, M, Orro, A, Milanesi, L, Baldelli, E, Bertolotti, M, Borghi, V, Mussini, C, Brancaccio, G, Caporaso, N, Gaeta, Gb, Lembo, V, Calvaruso, V, Craxì, A, Di Marco, V, Mazzola, A, Petta, S, D'Amico, E, Cacciatore, P, Consorte, A, Palitti, Vp, Pieri, A, Polilli, E, Antenucci, F, Antonucci, Fp, Armenia, D, Baiocchi, L, Bellocchi, M, Biliotti, E, Biolato, M, Carioti, L, Cerasari, G, Cerva, C, Ciotti, M, D'Ambrosio, C, D'Ettorre, G, De Sanctis, A, Di Maio VC, Furlan, C, Gallo, P, Grieco, A, Grieco, S, Lattanzi, B, Malagnino, V, Manuelli, M, Merli, M, Miglioresi, L, Palazzo, D, Perno, Cf, Santopaolo, F, Santoro, Mm, Sforza, D, Sorbo, Mc, Spaziante, M, Svicher, V, Teti, E, Mangia, A, Maida, I, Mura, Ms, Falconi, L, Di Giammartino, D, Tarquini, P., Di Maio, V C, Cento, V, Di Paolo, D, Aragri, M, De Leonardis, F, Tontodonati, M, Micheli, V, Bellocchi, M C, Antonucci, F P, Bertoli, A, Lenci, I, Milana, M, Gianserra, L, Melis, M, Di Biagio, A, Sarrecchia, C, Sarmati, L, Landonio, S, Francioso, S, Lambiase, L, Nicolini, L A, Marenco, S, Nosotti, L, Giannelli, V, Siciliano, M, Romagnoli, D, Pellicelli, A, Vecchiet, J, Magni, C F, Babudieri, S, Mura, M S, Taliani, G, Mastroianni, C, Vespasiani-Gentilucci, U, Romano, M, Morisco, F, Gasbarrini, A, Vullo, V, Bruno, S, Baiguera, C, Pasquazzi, C, Tisone, G, Picciotto, A, Andreoni, M, Parruti, G, Rizzardini, G, Angelico, M, Perno, C F, Ceccherini-Silberstein, F, HCV Italian Resistance Network Study Group., Collaborators (129) Mariani R, Paoloni, M, Iapadre, N, Grimaldi, A, Menzaghi, B, Quirino, T, Bruzzone, B, De Maria, A, Nicolini, La, Viscoli, C, Casinelli, K, Monache, Md, Lichtner, M, Aghemo, A, Cerrone, M, Colombo, M, Monforte, Ad, Danieli, E, Donato, F, Gubertini, G, Magni, Cf, Mancon, A, Monico, S, Niero, F, Puoti, M, Russo, Ml, Alfieri, R, Gnocchi, M, Orro, A, Milanesi, L, Baldelli, E, Bertolotti, M, Borghi, V, Mussini, C, Brancaccio, G, Caporaso, N, Gaeta, Gb, Lembo, V, Calvaruso, V, Craxì, A, Di Marco, V, Mazzola, A, Petta, S, D'Amico, E, Cacciatore, P, Consorte, A, Palitti, Vp, Pieri, A, Polilli, E, Antenucci, F, Antonucci, Fp, Armenia, D, Baiocchi, L, Bellocchi, M, Biliotti, E, Biolato, M, Carioti, L, Cerasari, G, Cerva, C, Ciotti, M, D'Ambrosio, C, D'Ettorre, G, De Sanctis, A, Di Maio, Vc, Furlan, C, Gallo, P, Grieco, A, Grieco, S, Lattanzi, B, Malagnino, V, Manuelli, M, Merli, M, Miglioresi, L, Palazzo, D, Perno, Cf, Santopaolo, F, Santoro, Mm, Sforza, D, Sorbo, Mc, Spaziante, M, Svicher, V, Teti, E, Mangia, A, Maida, I, Mura, M, Falconi, L, Di Giammartino, D, Tarquini, P., Di Maio, V. C, Bellocchi, M. C, Antonucci, F. P, Nicolini, L. A, Magni, C. F, Mura, M. S, Vespasiani Gentilucci, U, Morisco, Filomena, Perno, C. F, Ceccherini Silberstein, F., Caporaso, Nicola, Di Maio, V., Cento, V., Di Paolo, D., Aragri, M., De Leonardis, F., Tontodonati, M., Micheli, V., Bellocchi, M., Antonucci, F., Bertoli, A., Lenci, I., Milana, M., Gianserra, L., Melis, M., Di Biagio, A., Sarrecchia, C., Sarmati, L., Landonio, S., Francioso, S., Lambiase, L., Nicolini, L., Marenco, S., Nosotti, L., Giannelli, V., Siciliano, M., Romagnoli, D., Pellicelli, A., Vecchiet, J., Magni, C., Babudieri, S., Mura, M., Taliani, G., Mastroianni, C., Vespasiani-Gentilucci, U., Romano, M., Morisco, F., Gasbarrini, A., Vullo, V., Bruno, S., Baiguera, C., Pasquazzi, C., Tisone, G., Picciotto, A., Andreoni, M., Parruti, G., Rizzardini, G., Angelico, M., Perno, C., Ceccherini-Silberstein, F., Mariani, R., Paoloni, M., Iapadre, N., Grimaldi, A., Menzaghi, B., Quirino, T., Bruzzone, B., De Maria, A., Viscoli, C., Casinelli, K., Delle Monache, M., Lichtner, M., Aghemo, A., Cerrone, M., Colombo, M., D'Arminio Monforte, A., Danieli, E., Donato, F., Gubertini, G., Mancon, A., Monico, S., Niero, F., Puoti, M., Russo, M., Alfieri, R., Gnocchi, M., Orro, A., Milanesi, L., Baldelli, E., Bertolotti, M., Borghi, V., Mussini, C., Brancaccio, G., Caporaso, N., Gaeta, G., Lembo, V., Calvaruso, V., Craxã, A., DI MARCO, V., Mazzola, A., Petta, S., D'Amico, E., Cacciatore, P., Consorte, A., Pace Palitti, V., Pieri, A., Polilli, E., Antenucci, F., Armenia, D., Baiocchi, L., Biliotti, E., Biolato, M., Carioti, L., Cerasari, G., Cerva, C., Ciotti, M., D'Ambrosio, C., D'Ettorre, G., De Sanctis, A., Furlan, C., Gallo, P., Grieco, A., Grieco, S., Lattanzi, B., Malagnino, V., Manuelli, M., Merli, M., Miglioresi, L., Palazzo, D., Santopaolo, F., Santoro, M., Sforza, D., Sorbo, M., Spaziante, M., Svicher, V., Teti, E., Mangia, A., Maida, I., Falconi, L., and Di Giammartino, D.
Subjects: 0301 basic medicine, ns3, Genotyping Techniques, viruses, Drug Resistance, Hepacivirus, Viral Nonstructural Proteins, medicine.disease_cause, Gastroenterology, Telaprevir, chemistry.chemical_compound, genotype, genotyping techniques, hepacivirus, hepatitis C, humans, RNA viral, retrospective studies, sequence analysis, DNA, viral nonstructural proteins, drug resistance, viral, mutation, pharmacology, infectious diseases, 0302 clinical medicine, Retrospective Studie, Genotype, Pharmacology (medical), Viral, Hepatitis C, Humans, RNA, Viral, Retrospective Studies, Sequence Analysis, DNA, Drug Resistance, Viral, Mutation, Proteolytic enzymes, virus diseases, Settore MED/07 - Microbiologia e Microbiologia Clinica, hcv-rna levels, Infectious Diseases, HCV-RNA, 030211 gastroenterology & hepatology, Sequence Analysis, medicine.drug, Human, Microbiology (medical), medicine.medical_specialty, Hepatitis C virus, Concordance, Settore MED/12 - GASTROENTEROLOGIA, Pharmacology, Biology, 03 medical and health sciences, Boceprevir, Internal medicine, medicine, hcv, Genotyping, Hepaciviru, Viral Nonstructural Protein, Settore MED/09 - MEDICINA INTERNA, Virology, digestive system diseases, 030104 developmental biology, chemistry, Sequence Analysi, RNA, Genotyping Technique
Abstract: OBJECTIVES: This study aims to evaluate the reliability and clinical utility of NS3 sequencing in hepatitis C virus (HCV) 1-infected patients who were candidates to start a PI-containing regimen. METHODS: NS3 protease sequencing was performed by in-house-developed HCV-1 subtype-specific protocols. Phylogenetic analysis was used to test sequencing reliability and concordance with previous genotype/subtype assignment by commercial genotyping assays. RESULTS: Five hundred and sixty-seven HCV plasma samples with quantifiable HCV-RNA from 326 HCV-infected patients were collected between 2011 and 2014. Overall, the success rate of NS3 sequencing was 88.9%. The success rate between the two subtype protocols (HCV-1a/HCV-1b) was similarly high for samples with HCV-RNA >3 log IU/mL (>92% success rate), while it was slightly lower for HCV-1a samples with HCV-RNA ≤3 log IU/mL compared with HCV-1b samples. Phylogenetic analysis confirmed the genotype/subtype given by commercial genotyping assays in 92.9% (303/326) of cases analysed. In the remaining 23 cases (7.1%), 1 was HCV-1g (previously defined as subtype 1a), 1 was HCV-4d (previously defined as genotype 1b) and 1 was HCV-1b (previously defined as genotype 2a/2c). In the other cases, NS3 sequencing precisely resolved the either previous undetermined/discordant subtype 1 or double genotype/subtype assignment by commercial genotyping assays. Resistance-associated variants (RAVs) to PI were detected in 31.0% of samples. This prevalence changed according to PI experience (17.1% in PI-naive patients versus 79.2% in boceprevir/telaprevir/simeprevir-failing patients). Among 96 patients with available virological outcome following boceprevir/telaprevir treatment, a trend of association between baseline NS3 RAVs and virological failure was observed (particularly for HCV-1a-infected patients: 3/21 failing patients versus 0/22 achieving sustained virological response; P = 0.11). CONCLUSIONS: HCV-NS3 sequencing provides reliable results and at the same time gives two clinically relevant pieces of information: a correct subtype/genotype assignment and the detection of variants that may interfere with the efficacy of PI.
Published: 2016

17. Multiclass HCV resistance to direct-acting antiviral failure in real-life patients advocates for tailored second-line therapies

Author: Di Maio, Velia C., Cento, Valeria, Lenci, Ilaria, Aragri, Marianna, Rossi, Piera, Barbaliscia, Silvia, Melis, Michela, Verucchi, Gabriella, Magni, Carlo F., Teti, Elisabetta, Bertoli, Ada, Antonucci, Francescopaolo, Bellocchi, Maria C., Micheli, Valeria, Masetti, Chiara, Landonio, Simona, Francioso, Simona, Santopaolo, Francesco, Pellicelli, Adriano M., Calvaruso, Vincenza, Gianserra, Laura, Siciliano, Massimo, Romagnoli, Dante, Cozzolongo, Raffaele, Grieco, Antonio, Vecchiet, Jacopo, Morisco, Filomena, Merli, Manuela, Brancaccio, Giuseppina, Di Biagio, Antonio, Loggi, Elisabetta, Mastroianni, Claudio Maria, Pace Palitti, Valeria, Tarquini, Pierluigi, Puoti, Massimo, Taliani, Gloria, Sarmati, Loredana, Picciotto, Antonino, Vullo, Vincenzo, Caporaso, Nicola, Paoloni, Maurizio, Pasquazzi, Caterina, Rizzardini, Giuliano, Parruti, Giustino, Craxì, Antonio, Babudieri, Sergio, Andreoni, Massimo, Angelico, Mario, Perno, Carlo F., Ceccherini Silberstein, Francesca, Mariani, R., Iapadre, N., Grimaldi, A., Cozzolongo, R., Andreone, P., Verucchi, G., Menzaghi, B., Quirino, T., Pisani, V., Torti, MARIA CHIARA, Vecchiet, J., Bruzzone, B., De Maria, A., Marenco, S., Nicolini, L. A., Viscoli, C., Casinelli, K., Delle Monache, M., Lichtner, Miriam, Aghemo, A., Boccaccio, V., Bruno, S., Cerrone, M., Colombo, M., D'Arminio Monforte, A., Danieli, E., Donato, F., Gubertini, G., Lleo, A., Magni, C. F., Mancon, A., Monico, S., Niero, F., Russo, M. L., Gnocchi, M., Orro, A., Milanesi, L., Baldelli, E., Bertolotti, M., Borghi, V., Mussini, C., Brancaccio, G., Gaeta, G. B., Lembo, V., Sangiovanni, V., Di Marco, V., Mazzola, A., Petta, S., D'Amico, E., Cacciatore, P., Consorte, A., Pieri, A., Polilli, E., Sozio, F., Antenucci, F., Aragri, M., Baiocchi, L., Barbaliscia, S., Biliotti, Elisa, Biolato, M., Carioti, L., Ceccherini Silberstein, F., Cerasari, G., Cerva, C., Ciotti, M., D'Ambrosio, C., D'Ettorre, G., De Leonardis, F., De Sanctis, A., Di Maio, V. C., Di Paolo, D., Furlan, Caterina, Gallo, P., Gasbarrini, A., Giannelli, V., Grieco, S., Lambiase, L., Lattanzi, B., Lenci, I., Lula, R., Malagnino, V., Manuelli, M., Miglioresi, L., Milana, M., Moretti, A., Nosotti, L., Palazzo, Donatella, Pellicelli, A., Romano, M., Sarrecchia, C., Sforza, D., Sorbo, M. C., Spaziante, M., Svicher, V., Tisone, G., Vespasiani Gentilucci, U., D'Adamo, G., Mangia, A., Maida, I., Mura, M. S., Falconi, L., Di Giammartino, D., Di Maio, V., Cento, V., Lenci, I., Aragri, M., Rossi, P., Barbaliscia, S., Melis, M., Verucchi, G., Magni, C., Teti, E., Bertoli, A., Antonucci, F., Bellocchi, M., Micheli, V., Masetti, C., Landonio, S., Francioso, S., Santopaolo, F., Pellicelli, A., Calvaruso, V., Gianserra, L., Siciliano, M., Romagnoli, D., Cozzolongo, R., Grieco, A., Vecchiet, J., Morisco, F., Merli, M., Brancaccio, G., Di Biagio, A., Loggi, E., Mastroianni, C., Pace Palitti, V., Tarquini, P., Puoti, M., Taliani, G., Sarmati, L., Picciotto, A., Vullo, V., Caporaso, N., Paoloni, M., Pasquazzi, C., Rizzardini, G., Parruti, G., Craxã¬, A., Babudieri, S., Andreoni, M., Angelico, M., Perno, C., Ceccherini-Silberstein, F., Mariani, R., Iapadre, N., Grimaldi, A., Andreone, P., Menzaghi, B., Quirino, T., Pisani, V., Torti, C., Bruzzone, B., De Maria, A., Marenco, S., Nicolini, L., Viscoli, C., Casinelli, K., Delle Monache, M., Lichtner, M., Aghemo, A., Boccaccio, V., Bruno, S., Cerrone, M., Colombo, M., D'Arminio Monforte, A., Danieli, E., Donato, F., Gubertini, G., Lleo, A., Mancon, A., Monico, S., Niero, F., Russo, M., Gnocchi, M., Orro, A., Milanesi, L., Baldelli, E., Bertolotti, M., Borghi, V., Mussini, C., Gaeta, G., Lembo, V., Sangiovanni, V., DI MARCO, V., Mazzola, A., Petta, S., D'Amico, E., Cacciatore, P., Consorte, A., Pieri, A., Polilli, E., Sozio, F., Antenucci, F., Baiocchi, L., Biliotti, E., Biolato, M., Carioti, L., Cerasari, G., Cerva, C., Ciotti, M., D'Ambrosio, C., D'Ettorre, G., De Leonardis, F., De Sanctis, A., Di Paolo, D., Furlan, C., Gallo, P., Gasbarrini, A., Giannelli, V., Grieco, S., Lambiase, L., Lattanzi, B., Lula, R., Malagnino, V., Manuelli, M., Miglioresi, L., Milana, M., Moretti, A., Nosotti, L., Palazzo, D., Romano, M., Sarrecchia, C., Sforza, D., Sorbo, M., Spaziante, M., Svicher, V., Tisone, G., Vespasiani-Gentilucci, U., D'Adamo, G., Mangia, A., Maida, I., Mura, M., Falconi, L., Di Giammartino, D., Di Maio, V, Cento, V, Lenci, I, Aragri, M, Rossi, P, Barbaliscia, S, Melis, M, Verucchi, G, Magni, C, Teti, E, Bertoli, A, Antonucci, F, Bellocchi, M, Micheli, V, Masetti, C, Landonio, S, Francioso, S, Santopaolo, F, Pellicelli, A, Calvaruso, V, Gianserra, L, Siciliano, M, Romagnoli, D, Cozzolongo, R, Grieco, A, Morisco, F, Merli, M, Brancaccio, G, Di Biagio, A, Loggi, E, Mastroianni, C, Pace Palitti, V, Tarquini, P, Puoti, M, Taliani, G, Sarmati, L, Picciotto, A, Vullo, V, Caporaso, N, Paoloni, M, Pasquazzi, C, Rizzardini, G, Parruti, G, Craxì, A, Babudieri, S, Andreoni, M, Angelico, M, Perno, C, Ceccherini-Silberstein, F, Velia C. Di Maio, Valeria Cento, Ilaria Lenci, Marianna Aragri, Piera Rossi, Silvia Barbaliscia, Michela Meli, Gabriella Verucchi, Carlo F. Magni, Elisabetta Teti, Ada Bertoli, Francesco Paolo Antonucci, Maria C. Bellocchi, Valeria Micheli, Chiara Masetti, Simona Landonio, Simona Francioso, Francesco Santopaolo, Adriano M. Pellicelli, Vincenza Calvaruso, Laura Gianserra, Massimo Siciliano, Dante Romagnoli, Raffaele Cozzolongo, Antonio Grieco, Jacopo Vecchiet, Filomena Morisco, Manuela Merli, Giuseppina Brancaccio, Antonio Di Biagio, Elisabetta Loggi, Claudio M. Mastroianni, Valeria Pace Palitti, Pierluigi Tarquini, Massimo Puoti, Gloria Taliani, Loredana Sarmati, Antonino Picciotto, Vincenzo Vullo, Nicola Caporaso, Maurizio Paoloni, Caterina Pasquazzi, Giuliano Rizzardini, Giustino Parruti, Antonio Craxì, Sergio Babudieri, Massimo Andreoni, Mario Angelico, Carlo F. Perno, Francesca Ceccherini-Silberstein, for the HCV Italian Resistance Network Study Group: [.., P. Andreone, E. Loggi, G. Verucchi, ], Di Maio, Velia C., Cento, Valeria, Lenci, Ilaria, Aragri, Marianna, Rossi, Piera, Barbaliscia, Silvia, Melis, Michela, Verucchi, Gabriella, Magni, Carlo F., Teti, Elisabetta, Bertoli, Ada, Antonucci, Francescopaolo, Bellocchi, Maria C., Micheli, Valeria, Masetti, Chiara, Landonio, Simona, Francioso, Simona, Santopaolo, Francesco, Pellicelli, Adriano M., Calvaruso, Vincenza, Gianserra, Laura, Siciliano, Massimo, Romagnoli, Dante, Cozzolongo, Raffaele, Grieco, Antonio, Vecchiet, Jacopo, Morisco, Filomena, Merli, Manuela, Brancaccio, Giuseppina, Di Biagio, Antonio, Loggi, Elisabetta, Mastroianni, Claudio M., Pace Palitti, Valeria, Tarquini, Pierluigi, Puoti, Massimo, Taliani, Gloria, Sarmati, Loredana, Picciotto, Antonino, Vullo, Vincenzo, Caporaso, Nicola, Paoloni, Maurizio, Pasquazzi, Caterina, Rizzardini, Giuliano, Parruti, Giustino, Craxã¬, Antonio, Babudieri, Sergio, Andreoni, Massimo, Angelico, Mario, Perno, Carlo F., Ceccherini-Silberstein, Francesca, Nicolini, L. A., Magni, C. F., Russo, M. L., Gaeta, G. B., Di Marco, V., Di Maio, V. C., Sorbo, M. C., Mura, M. S., Di Maio, Velia C, Magni, Carlo F, Bellocchi, Maria C, Pellicelli, Adriano M, Mastroianni, Claudio M, Craxì, Antonio, Perno, Carlo F, and Ceccherini Silberstein, Francesca
Subjects: Male, 0301 basic medicine, hepatitis C virus, Sustained Virologic Response, Sofosbuvir, Hepacivirus, Drug Resistance, resistance-associated substitutions, Viral Nonstructural Proteins, VARIANTS, NS5A, medicine.disease_cause, Gastroenterology, chemistry.chemical_compound, 0302 clinical medicine, Recurrence, INFECTION, antiviral therapy, Medicine, hepatitis C viru, Viral, Treatment Failure, Chronic, direct-acting antivirals, resistance test, hepatology, biology, GENOTYPE 1, virus diseases, Middle Aged, Settore MED/07 - Microbiologia e Microbiologia Clinica, Hepatitis C, Italy, Combination, Interferon, Drug Therapy, Combination, Female, 030211 gastroenterology & hepatology, Author Keywords:antiviral therapy, RIBAVIRIN, Sequence Analysis, Human, medicine.drug, medicine.medical_specialty, Daclatasvir, Genotype, Hepatitis C virus, Antiviral Agents, LONG-TERM PERSISTENCE, DACLATASVIR, 03 medical and health sciences, Drug Therapy, Aged, Drug Resistance, Viral, Hepatitis C, Chronic, Humans, Interferons, Mutation, Ribavirin, Sequence Analysis, DNA, Hepatology, TREATMENT-NAIVE, Internal medicine, Antiviral Agent, resistance-associated substitution, direct-acting antiviral, Hepaciviru, resistance test KeyWords Plus:HEPATITIS-C VIRUS, business.industry, Viral Nonstructural Protein, DNA, biology.organism_classification, Clinical trial, 030104 developmental biology, SOFOSBUVIR, chemistry, Sequence Analysi, Immunology, business
Abstract: Background & Aims: Despite the excellent efficacy of direct-acting antivirals (DAA) reported in clinical trials, virological failures can occur, often associated with the development of resistance-associated substitutions (RASs). This study aimed to characterize the presence of clinically relevant RASs to all classes in real-life DAA failures. Methods: Of the 200 virological failures that were analyzed in 197 DAA-treated patients, 89 with pegylated-interferon+ribavirin (PegIFN+RBV) and 111 without (HCV-1a/1b/1g/2/3/4=58/83/1/6/24/25; 56.8% treatment experienced; 65.5% cirrhotic) were observed. Sanger sequencing of NS3/NS5A/NS5B was performed by home-made protocols, at failure (N= 200) and whenever possible at baseline (N= 70). Results: The majority of the virological failures were relapsers (57.0%), 22.5% breakthroughs, 20.5% non-responders. RAS prevalence varied according to IFN/RBV use, DAA class, failure type and HCV genotype/subtype. It was 73.0% in IFN group vs 49.5% in IFN free, with the highest prevalence of NS5A-RASs (96.1%), compared to NS3-RASs (75.9% with IFN, 70.5% without) and NS5B-RASs (66.6% with IFN, 20.4% without, in sofosbuvir failures). In the IFN-free group, RASs were higher in breakthrough/non-responders than in relapsers (90.5% vs 40.0%, P= 2 DAA classes showed multiclass resistance, including 11/11 NS3+NS5A failures. Furthermore, 20.0% of patients had baseline-RASs, which were always confirmed at failure. Conclusions: In our failure setting, RAS prevalence was remarkably high in all genes, with a partial exception for NS5B, whose limited resistance is still higher than previously reported. This multiclass resistance advocates for HCV resistance testing at failure, in all three genes for the best second-line therapeutic tailoring.
Published: 2017

18. HCV NS3 sequencing as a reliable and clinically useful tool for the assessment of genotype and resistance mutations for clinical samples with different HCV-RNA levels

Author: Di Maio, V, Cento, V, Di Paolo, D, Aragri, M, De Leonardis, F, Tontodonati, M, Micheli, V, Bellocchi, M, Antonucci, F, Bertoli, A, Lenci, I, Milana, M, Gianserra, L, Melis, M, Di Biagio, A, Sarrecchia, C, Sarmati, L, Landonio, S, Francioso, S, Lambiase, L, Nicolini, L, Marenco, S, Nosotti, L, Giannelli, V, Siciliano, M, Romagnoli, D, Pellicelli, A, Vecchiet, J, Magni, C, Babudieri, S, Mura, M, Taliani, G, Mastroianni, C, Vespasiani-Gentilucci, U, Romano, M, Morisco, F, Gasbarrini, A, Vullo, V, Bruno, S, Baiguera, C, Pasquazzi, C, Tisone, G, Picciotto, A, Andreoni, M, Parruti, G, Rizzardini, G, Angelico, M, Perno, C, Ceccherini-Silberstein, F, Mariani, R, Paoloni, M, Iapadre, N, Grimaldi, A, Menzaghi, B, Quirino, T, Bruzzone, B, De Maria, A, Viscoli, C, Casinelli, K, Delle Monache, M, Lichtner, M, Aghemo, A, Cerrone, M, Colombo, M, D'Arminio Monforte, A, Danieli, E, Donato, F, Gubertini, G, Mancon, A, Monico, S, Niero, F, Puoti, M, Russo, M, Alfieri, R, Gnocchi, M, Orro, A, Milanesi, L, Baldelli, E, Bertolotti, M, Borghi, V, Mussini, C, Brancaccio, G, Caporaso, N, Gaeta, G, Lembo, V, Calvaruso, V, Craxi, A, Di Marco, V, Mazzola, A, Petta, S, D'Amico, E, Cacciatore, P, Consorte, A, Pace Palitti, V, Pieri, A, Polilli, E, Antenucci, F, Armenia, D, Baiocchi, L, Biliotti, E, Biolato, M, Carioti, L, Cerasari, G, Cerva, C, Ciotti, M, D'Ambrosio, C, D'Ettorre, G, De Sanctis, A, Furlan, C, Gallo, P, Grieco, A, Grieco, S, Lattanzi, B, Malagnino, V, Manuelli, M, Merli, M, Miglioresi, L, Palazzo, D, Santopaolo, F, Santoro, M, Sforza, D, Sorbo, M, Spaziante, M, Svicher, V, Teti, E, Mangia, A, Maida, I, Falconi, L, Di Giammartino, D, Tarquini, P, Di Maio V. C., Cento V., Di Paolo D., Aragri M., De Leonardis F., Tontodonati M., Micheli V., Bellocchi M. C., Antonucci F. P., Bertoli A., Lenci I., Milana M., Gianserra L., Melis M., Di Biagio A., Sarrecchia C., Sarmati L., Landonio S., Francioso S., Lambiase L., Nicolini L. A., Marenco S., Nosotti L., Giannelli V., Siciliano M., Romagnoli D., Pellicelli A., Vecchiet J., Magni C. F., Babudieri S., Mura M. S., Taliani G., Mastroianni C., Vespasiani-Gentilucci U., Romano M., Morisco F., Gasbarrini A., Vullo V., Bruno S., Baiguera C., Pasquazzi C., Tisone G., Picciotto A., Andreoni M., Parruti G., Rizzardini G., Angelico M., Perno C. F., Ceccherini-Silberstein F., Mariani R., Paoloni M., Iapadre N., Grimaldi A., Menzaghi B., Quirino T., Bruzzone B., De Maria A., Viscoli C., Casinelli K., Delle Monache M., Lichtner M., Aghemo A., Cerrone M., Colombo M., D'Arminio Monforte A., Danieli E., Donato F., Gubertini G., Mancon A., Monico S., Niero F., Puoti M., Russo M. L., Alfieri R., Gnocchi M., Orro A., Milanesi L., Baldelli E., Bertolotti M., Borghi V., Mussini C., Brancaccio G., Caporaso N., Gaeta G. B., Lembo V., Calvaruso V., Craxi A., Di Marco V., Mazzola A., Petta S., D'Amico E., Cacciatore P., Consorte A., Pace Palitti V., Pieri A., Polilli E., Antenucci F., Armenia D., Baiocchi L., Biliotti E., Biolato M., Carioti L., Cerasari G., Cerva C., Ciotti M., D'Ambrosio C., D'Ettorre G., De Sanctis A., Furlan C., Gallo P., Grieco A., Grieco S., Lattanzi B., Malagnino V., Manuelli M., Merli M., Miglioresi L., Palazzo D., Santopaolo F., Santoro M. M., Sforza D., Sorbo M. C., Spaziante M., Svicher V., Teti E., Mangia A., Maida I., Falconi L., Di Giammartino D., Tarquini P., Di Maio, V, Cento, V, Di Paolo, D, Aragri, M, De Leonardis, F, Tontodonati, M, Micheli, V, Bellocchi, M, Antonucci, F, Bertoli, A, Lenci, I, Milana, M, Gianserra, L, Melis, M, Di Biagio, A, Sarrecchia, C, Sarmati, L, Landonio, S, Francioso, S, Lambiase, L, Nicolini, L, Marenco, S, Nosotti, L, Giannelli, V, Siciliano, M, Romagnoli, D, Pellicelli, A, Vecchiet, J, Magni, C, Babudieri, S, Mura, M, Taliani, G, Mastroianni, C, Vespasiani-Gentilucci, U, Romano, M, Morisco, F, Gasbarrini, A, Vullo, V, Bruno, S, Baiguera, C, Pasquazzi, C, Tisone, G, Picciotto, A, Andreoni, M, Parruti, G, Rizzardini, G, Angelico, M, Perno, C, Ceccherini-Silberstein, F, Mariani, R, Paoloni, M, Iapadre, N, Grimaldi, A, Menzaghi, B, Quirino, T, Bruzzone, B, De Maria, A, Viscoli, C, Casinelli, K, Delle Monache, M, Lichtner, M, Aghemo, A, Cerrone, M, Colombo, M, D'Arminio Monforte, A, Danieli, E, Donato, F, Gubertini, G, Mancon, A, Monico, S, Niero, F, Puoti, M, Russo, M, Alfieri, R, Gnocchi, M, Orro, A, Milanesi, L, Baldelli, E, Bertolotti, M, Borghi, V, Mussini, C, Brancaccio, G, Caporaso, N, Gaeta, G, Lembo, V, Calvaruso, V, Craxi, A, Di Marco, V, Mazzola, A, Petta, S, D'Amico, E, Cacciatore, P, Consorte, A, Pace Palitti, V, Pieri, A, Polilli, E, Antenucci, F, Armenia, D, Baiocchi, L, Biliotti, E, Biolato, M, Carioti, L, Cerasari, G, Cerva, C, Ciotti, M, D'Ambrosio, C, D'Ettorre, G, De Sanctis, A, Furlan, C, Gallo, P, Grieco, A, Grieco, S, Lattanzi, B, Malagnino, V, Manuelli, M, Merli, M, Miglioresi, L, Palazzo, D, Santopaolo, F, Santoro, M, Sforza, D, Sorbo, M, Spaziante, M, Svicher, V, Teti, E, Mangia, A, Maida, I, Falconi, L, Di Giammartino, D, Tarquini, P, Di Maio V. C., Cento V., Di Paolo D., Aragri M., De Leonardis F., Tontodonati M., Micheli V., Bellocchi M. C., Antonucci F. P., Bertoli A., Lenci I., Milana M., Gianserra L., Melis M., Di Biagio A., Sarrecchia C., Sarmati L., Landonio S., Francioso S., Lambiase L., Nicolini L. A., Marenco S., Nosotti L., Giannelli V., Siciliano M., Romagnoli D., Pellicelli A., Vecchiet J., Magni C. F., Babudieri S., Mura M. S., Taliani G., Mastroianni C., Vespasiani-Gentilucci U., Romano M., Morisco F., Gasbarrini A., Vullo V., Bruno S., Baiguera C., Pasquazzi C., Tisone G., Picciotto A., Andreoni M., Parruti G., Rizzardini G., Angelico M., Perno C. F., Ceccherini-Silberstein F., Mariani R., Paoloni M., Iapadre N., Grimaldi A., Menzaghi B., Quirino T., Bruzzone B., De Maria A., Viscoli C., Casinelli K., Delle Monache M., Lichtner M., Aghemo A., Cerrone M., Colombo M., D'Arminio Monforte A., Danieli E., Donato F., Gubertini G., Mancon A., Monico S., Niero F., Puoti M., Russo M. L., Alfieri R., Gnocchi M., Orro A., Milanesi L., Baldelli E., Bertolotti M., Borghi V., Mussini C., Brancaccio G., Caporaso N., Gaeta G. B., Lembo V., Calvaruso V., Craxi A., Di Marco V., Mazzola A., Petta S., D'Amico E., Cacciatore P., Consorte A., Pace Palitti V., Pieri A., Polilli E., Antenucci F., Armenia D., Baiocchi L., Biliotti E., Biolato M., Carioti L., Cerasari G., Cerva C., Ciotti M., D'Ambrosio C., D'Ettorre G., De Sanctis A., Furlan C., Gallo P., Grieco A., Grieco S., Lattanzi B., Malagnino V., Manuelli M., Merli M., Miglioresi L., Palazzo D., Santopaolo F., Santoro M. M., Sforza D., Sorbo M. C., Spaziante M., Svicher V., Teti E., Mangia A., Maida I., Falconi L., Di Giammartino D., and Tarquini P.
Abstract: Objectives: This study aims to evaluate the reliability and clinical utility of NS3 sequencing in hepatitis C virus (HCV) 1-infected patients who were candidates to start a PI-containing regimen. Methods: NS3 protease sequencing was performed by in-house-developed HCV-1 subtype-specific protocols. Phylogenetic analysis was used to test sequencing reliability and concordance with previous genotype/subtype assignment by commercial genotyping assays. Results: Five hundred and sixty-seven HCV plasma samples with quantifiable HCV-RNA from 326 HCV-infected patients were collected between 2011 and 2014. Overall, the success rate of NS3 sequencing was 88.9%. The success rate between the two subtype protocols (HCV-1a/HCV-1b) was similarly high for samples with HCV-RNA > 3 log IU/mL (>92% success rate), while it was slightly lower for HCV-1a samples with HCV-RNA ≤ 3 log IU/mL compared with HCV-1b samples. Phylogenetic analysis confirmed the genotype/subtype given by commercial genotyping assays in 92.9% (303/326) of cases analysed. In the remaining 23 cases (7.1%), 1 was HCV-1g (previously defined as subtype 1a), 1 was HCV-4d (previously defined as genotype 1b) and 1 was HCV-1b (previously defined as genotype 2a/2c). In the other cases, NS3 sequencing precisely resolved the either previous undetermined/discordant subtype 1 or double genotype/subtype assignment by commercial genotyping assays. Resistance-associated variants (RAVs) to PI were detected in 31.0% of samples. This prevalence changed according to PI experience (17.1% in PI-naive patients versus 79.2% in boceprevir/telaprevir/simeprevir-failing patients). Among 96 patients with available virological outcome following boceprevir/telaprevir treatment, a trend of association between baseline NS3 RAVs and virological failure was observed (particularly for HCV-1a-infected patients: 3/21 failing patients versus 0/22 achieving sustained virological response; P = 0.11). Conclusions: HCV-NS3 sequencing provides reliable
Published: 2016

19. 4965Non-transcriptional disruption of Ca2+i homeostasis and Cx43 function in the right ventricle precedes overt arrhythmogenic cardiomyopathy in PKP2-deficient mice

Author: Kim, J C, primary, Perez-Hernandez, M, additional, Alvarado, F J, additional, Maurya, S R, additional, Montnach, J, additional, Yin, Y, additional, Zhang, M, additional, Lin, X, additional, Heguy, A, additional, Rothenberg, E, additional, Lundby, A, additional, Valdivia, H H, additional, Cerrone, M, additional, and Delmar, M, additional
Published: 2019
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20. ATTIVITÀ ANTIPROLIFERATIVA E DIFFERENZIANTE DI ANTOCIANINE ESTRATTE DA SOLANUM TUBEROSA L

Author: Parisi R, Cerrone M, Di Santi A, Guerriero V, Rigano D, Tomeo D, Ilardi V, GRASSI, Roberto, BONTEMPO, Paola, Parisi, R, Cerrone, M, Di Santi, A, Guerriero, V, Rigano, D, Tomeo, D, Ilardi, V, Grassi, Roberto, and Bontempo, Paola
Published: 2012

21. Melanoma and immunotherapy bridge 2015 : Naples, Italy. 1-5 December 2015.

Author: Nanda, VGY, Peng, W, Hwu, P, Davies, MA, Ciliberto, G, Fattore, L, Malpicci, D, Aurisicchio, L, Ascierto, PA, Croce, CM, Mancini, R, Spranger, S, Gajewski, TF, Wang, Y, Ferrone, S, Vanpouille-Box, C, Wennerberg, E, Pilones, KA, Formenti, SC, Demaria, S, Tang, H, Fu, Y-X, Dummer, R, Puzanov, I, Tarhini, A, Chauvin, J-M, Pagliano, O, Fourcade, J, Sun, Z, Wang, H, Sanders, C, Kirkwood, JM, Chen, T-HT, Maurer, M, Korman, AJ, Zarour, HM, Stroncek, DF, Huber, V, Rivoltini, L, Thurin, M, Rau, T, Lugli, A, Pagès, F, Camarero, J, Sancho, A, Jommi, C, de Coaña, YP, Wolodarski, M, Yoshimoto, Y, Gentilcore, G, Poschke, I, Masucci, GV, Hansson, J, Kiessling, R, Scognamiglio, G, Sabbatino, F, Marino, FZ, Anniciello, AM, Cantile, M, Cerrone, M, Scala, S, D’alterio, C, Ianaro, A, Cirin, G, Liguori, G, Bott, G, Chapman, PB, Robert, C, Larkin, J, Haanen, JB, Ribas, A, Hogg, D, Hamid, O, Testori, A, Lorigan, P, Sosman, JA, Flaherty, KT, Yue, H, Coleman, S, Caro, I, Hauschild, A, McArthur, GA, Sznol, M, Callahan, MK, Kluger, H, Postow, MA, Gordan, R, Segal, NH, Rizvi, NA, Lesokhin, A, Atkins, MB, Burke, MM, Ralabate, A, Rivera, A, Kronenberg, SA, Agunwamba, B, Ruisi, M, Horak, C, Jiang, J, Wolchok, J, Liszkay, G, Maio, M, Mandalà, M, Demidov, L, Stoyakovskiy, D, Thomas, L, de la Cruz-Merino, L, Atkinson, V, Dutriaux, C, Garbe, C, Wongchenko, M, Chang, I, Koralek, DO, Rooney, I, Yan, Y, Dréno, B, Sullivan, R, Patel, M, Hodi, S, Amaria, R, Boasberg, P, Wallin, J, He, X, Cha, E, Richie, N, Ballinger, M, Smith, DC, Bauer, TM, Wasser, JS, Luke, JJ, Balmanoukian, AS, Kaufman, DR, Zhao, Y, Maleski, J, Leopold, L, Gangadhar, TC, Long, GV, Michielin, O, VanderWalde, A, Andtbacka, RHI, Cebon, J, Fernandez, E, Malvehy, J, Olszanski, AJ, Gause, C, Chen, L, Chou, J, Stephen Hodi, F, Brady, B, Mortier, L, Hassel, JC, Rutkowski, P, McNeil, C, Kalinka-Warzocha, E, Lebbé, C, Ny, L, Chacon, M, Queirolo, P, Loquai, C, Cheema, P, Berrocal, A, Eizmendi, KM, Bar-Sela, G, Hardy, H, Weber, JS, Grob, J-J, Marquez-Rodas, I, Schmidt, H, Briscoe, K, Baurain, J-F, Wolchok, JD, Pinto, R, De Summa, S, Garrisi, VM, Strippoli, S, Azzariti, A, Guida, G, Guida, M, Tommasi, S, Jacquelot, N, Enot, D, Flament, C, Pitt, JM, Vimond, N, Blattner, C, Yamazaki, T, Roberti, M-P, Vetizou, M, Daillere, R, Poirier-Colame, V, la Semeraro, M, Caignard, A, Slingluff, CL, Sallusto, F, Rusakiewicz, S, Weide, B, Marabelle, A, Kohrt, H, Dalle, S, Cavalcanti, A, Kroemer, G, Di Giacomo, AM, Wong, P, Yuan, J, Umansky, V, Eggermont, A, Zitvogel, L, Anna, P, Marco, T, Stefania, S, Francesco, M, Mariaelena, C, Gabriele, M, Antonio, AP, Franco, S, Roberti, MP, Enot, DP, Semeraro, M, Jégou, S, Flores, C, Kwon, BS, Anderson, AC, Borg, C, Aubin, F, Ayyoub, M, De Presbiteris, AL, Cordaro, FG, Camerlingo, R, Fratangelo, F, Mozzillo, N, Pirozzi, G, Patriarca, EJ, Caputo, E, Motti, ML, Falcon, R, Miceli, R, Capone, M, Madonna, G, Mallardo, D, Carrier, MV, Panza, E, De Cicco, P, Armogida, C, Ercolano, G, Botti, G, Cirino, G, Sandru, A, Blank, M, Balatoni, T, Olasz, J, Farkas, E, Szollar, A, Savolt, A, Godeny, M, Csuka, O, Horvath, S, Eles, K, Shoenfeld, Y, Kasler, M, Costantini, S, Capone, F, Moradi, F, Berglund, P, Leandersson, K, Linnskog, R, Andersson, T, Prasad, CP, Nigro, CL, Lattanzio, L, Proby, C, Syed, N, Occelli, M, Cauchi, C, Merlano, M, Harwood, C, Thompson, A, Crook, T, Bifulco, K, Ingangi, V, Minopoli, M, Ragone, C, Pessi, A, Mannavola, F, D’Oronzo, S, Felici, C, Tucci, M, Doronzo, A, Silvestris, F, Ferretta, A, Guida, S, Maida, I, Cocco, T, Passarelli, A, Quaresmini, D, Franzese, O, Palermo, B, Di Donna, C, Sperduti, I, Foddai, M, Stabile, H, Gismondi, A, Santoni, A, Nisticò, P, Sponghini, AP, Platini, F, Marra, E, Rondonotti, D, Alabiso, O, Fierro, MT, Savoia, P, Stratica, F, Quaglino, P, Di Monta, G, Corrado, C, Di Marzo, M, Ugo, M, Di Cecilia, ML, Nicola, M, Fusciello, C, Marra, A, Guarrasi, R, Baldi, C, Russo, R, Di Giulio, G, Faiola, V, Zeppa, P, Pepe, S, Gambale, E, Carella, C, Di Paolo, A, De Tursi, M, Marra, L, De Murtas, F, Sorrentino, V, Voinea, S, Panaitescu, E, Bolovan, M, Stanciu, A, Cinca, S, Botti, C, Aquino, G, Anniciello, A, Fortes, C, Mastroeni, S, Caggiati, A, Passarelli, F, Zappalà, A, Capuano, M, Bono, R, Nudo, M, Marino, C, Michelozzi, P, De Biasio, V, Battarra, VC, Formenti, S, Ascierto, ML, McMiller, TL, Berger, AE, Danilova, L, Anders, RA, Netto, GJ, Xu, H, Pritchard, TS, Fan, J, Cheadle, C, Cope, L, Drake, CG, Pardoll, DM, Taube, JM, Topalian, SL, Gnjatic, S, Nataraj, S, Imai, N, Rahman, A, Jungbluth, AA, Pan, L, Venhaus, R, Park, A, Lehmann, FF, Lendvai, N, Cohen, AD, Cho, HJ, Daniel, S, Hirsh, V, Nanda, VGY, Peng, W, Hwu, P, Davies, MA, Ciliberto, G, Fattore, L, Malpicci, D, Aurisicchio, L, Ascierto, PA, Croce, CM, Mancini, R, Spranger, S, Gajewski, TF, Wang, Y, Ferrone, S, Vanpouille-Box, C, Wennerberg, E, Pilones, KA, Formenti, SC, Demaria, S, Tang, H, Fu, Y-X, Dummer, R, Puzanov, I, Tarhini, A, Chauvin, J-M, Pagliano, O, Fourcade, J, Sun, Z, Wang, H, Sanders, C, Kirkwood, JM, Chen, T-HT, Maurer, M, Korman, AJ, Zarour, HM, Stroncek, DF, Huber, V, Rivoltini, L, Thurin, M, Rau, T, Lugli, A, Pagès, F, Camarero, J, Sancho, A, Jommi, C, de Coaña, YP, Wolodarski, M, Yoshimoto, Y, Gentilcore, G, Poschke, I, Masucci, GV, Hansson, J, Kiessling, R, Scognamiglio, G, Sabbatino, F, Marino, FZ, Anniciello, AM, Cantile, M, Cerrone, M, Scala, S, D’alterio, C, Ianaro, A, Cirin, G, Liguori, G, Bott, G, Chapman, PB, Robert, C, Larkin, J, Haanen, JB, Ribas, A, Hogg, D, Hamid, O, Testori, A, Lorigan, P, Sosman, JA, Flaherty, KT, Yue, H, Coleman, S, Caro, I, Hauschild, A, McArthur, GA, Sznol, M, Callahan, MK, Kluger, H, Postow, MA, Gordan, R, Segal, NH, Rizvi, NA, Lesokhin, A, Atkins, MB, Burke, MM, Ralabate, A, Rivera, A, Kronenberg, SA, Agunwamba, B, Ruisi, M, Horak, C, Jiang, J, Wolchok, J, Liszkay, G, Maio, M, Mandalà, M, Demidov, L, Stoyakovskiy, D, Thomas, L, de la Cruz-Merino, L, Atkinson, V, Dutriaux, C, Garbe, C, Wongchenko, M, Chang, I, Koralek, DO, Rooney, I, Yan, Y, Dréno, B, Sullivan, R, Patel, M, Hodi, S, Amaria, R, Boasberg, P, Wallin, J, He, X, Cha, E, Richie, N, Ballinger, M, Smith, DC, Bauer, TM, Wasser, JS, Luke, JJ, Balmanoukian, AS, Kaufman, DR, Zhao, Y, Maleski, J, Leopold, L, Gangadhar, TC, Long, GV, Michielin, O, VanderWalde, A, Andtbacka, RHI, Cebon, J, Fernandez, E, Malvehy, J, Olszanski, AJ, Gause, C, Chen, L, Chou, J, Stephen Hodi, F, Brady, B, Mortier, L, Hassel, JC, Rutkowski, P, McNeil, C, Kalinka-Warzocha, E, Lebbé, C, Ny, L, Chacon, M, Queirolo, P, Loquai, C, Cheema, P, Berrocal, A, Eizmendi, KM, Bar-Sela, G, Hardy, H, Weber, JS, Grob, J-J, Marquez-Rodas, I, Schmidt, H, Briscoe, K, Baurain, J-F, Wolchok, JD, Pinto, R, De Summa, S, Garrisi, VM, Strippoli, S, Azzariti, A, Guida, G, Guida, M, Tommasi, S, Jacquelot, N, Enot, D, Flament, C, Pitt, JM, Vimond, N, Blattner, C, Yamazaki, T, Roberti, M-P, Vetizou, M, Daillere, R, Poirier-Colame, V, la Semeraro, M, Caignard, A, Slingluff, CL, Sallusto, F, Rusakiewicz, S, Weide, B, Marabelle, A, Kohrt, H, Dalle, S, Cavalcanti, A, Kroemer, G, Di Giacomo, AM, Wong, P, Yuan, J, Umansky, V, Eggermont, A, Zitvogel, L, Anna, P, Marco, T, Stefania, S, Francesco, M, Mariaelena, C, Gabriele, M, Antonio, AP, Franco, S, Roberti, MP, Enot, DP, Semeraro, M, Jégou, S, Flores, C, Kwon, BS, Anderson, AC, Borg, C, Aubin, F, Ayyoub, M, De Presbiteris, AL, Cordaro, FG, Camerlingo, R, Fratangelo, F, Mozzillo, N, Pirozzi, G, Patriarca, EJ, Caputo, E, Motti, ML, Falcon, R, Miceli, R, Capone, M, Madonna, G, Mallardo, D, Carrier, MV, Panza, E, De Cicco, P, Armogida, C, Ercolano, G, Botti, G, Cirino, G, Sandru, A, Blank, M, Balatoni, T, Olasz, J, Farkas, E, Szollar, A, Savolt, A, Godeny, M, Csuka, O, Horvath, S, Eles, K, Shoenfeld, Y, Kasler, M, Costantini, S, Capone, F, Moradi, F, Berglund, P, Leandersson, K, Linnskog, R, Andersson, T, Prasad, CP, Nigro, CL, Lattanzio, L, Proby, C, Syed, N, Occelli, M, Cauchi, C, Merlano, M, Harwood, C, Thompson, A, Crook, T, Bifulco, K, Ingangi, V, Minopoli, M, Ragone, C, Pessi, A, Mannavola, F, D’Oronzo, S, Felici, C, Tucci, M, Doronzo, A, Silvestris, F, Ferretta, A, Guida, S, Maida, I, Cocco, T, Passarelli, A, Quaresmini, D, Franzese, O, Palermo, B, Di Donna, C, Sperduti, I, Foddai, M, Stabile, H, Gismondi, A, Santoni, A, Nisticò, P, Sponghini, AP, Platini, F, Marra, E, Rondonotti, D, Alabiso, O, Fierro, MT, Savoia, P, Stratica, F, Quaglino, P, Di Monta, G, Corrado, C, Di Marzo, M, Ugo, M, Di Cecilia, ML, Nicola, M, Fusciello, C, Marra, A, Guarrasi, R, Baldi, C, Russo, R, Di Giulio, G, Faiola, V, Zeppa, P, Pepe, S, Gambale, E, Carella, C, Di Paolo, A, De Tursi, M, Marra, L, De Murtas, F, Sorrentino, V, Voinea, S, Panaitescu, E, Bolovan, M, Stanciu, A, Cinca, S, Botti, C, Aquino, G, Anniciello, A, Fortes, C, Mastroeni, S, Caggiati, A, Passarelli, F, Zappalà, A, Capuano, M, Bono, R, Nudo, M, Marino, C, Michelozzi, P, De Biasio, V, Battarra, VC, Formenti, S, Ascierto, ML, McMiller, TL, Berger, AE, Danilova, L, Anders, RA, Netto, GJ, Xu, H, Pritchard, TS, Fan, J, Cheadle, C, Cope, L, Drake, CG, Pardoll, DM, Taube, JM, Topalian, SL, Gnjatic, S, Nataraj, S, Imai, N, Rahman, A, Jungbluth, AA, Pan, L, Venhaus, R, Park, A, Lehmann, FF, Lendvai, N, Cohen, AD, Cho, HJ, Daniel, S, and Hirsh, V
Abstract: MELANOMA BRIDGE 2015 KEYNOTE SPEAKER PRESENTATIONS Molecular and immuno-advances K1 Immunologic and metabolic consequences of PI3K/AKT/mTOR activation in melanoma Vashisht G. Y. Nanda, Weiyi Peng, Patrick Hwu, Michael A. Davies K2 Non-mutational adaptive changes in melanoma cells exposed to BRAF and MEK inhibitors help the establishment of drug resistance Gennaro Ciliberto, Luigi Fattore, Debora Malpicci, Luigi Aurisicchio, Paolo Antonio Ascierto, Carlo M. Croce, Rita Mancini K3 Tumor-intrinsic beta-catenin signaling mediates tumor-immune avoidance Stefani Spranger, Thomas F. Gajewski K4 Intracellular tumor antigens as a source of targets of antibody-based immunotherapy of melanoma Yangyang Wang, Soldano Ferrone Combination therapies K5 Harnessing radiotherapy to improve responses to immunotherapy in cancer Claire Vanpouille-Box, Erik Wennerberg, Karsten A. Pilones, Silvia C. Formenti, Sandra Demaria K6 Creating a T cell-inflamed tumor microenvironment overcomes resistance to checkpoint blockade Haidong Tang, Yang Wang, Yang-Xin Fu K7 Biomarkers for treatment decisions? Reinhard Dummer K8 Combining oncolytic therapies in the era of checkpoint inhibitors Igor Puzanov K9 Immune checkpoint blockade for melanoma: should we combine or sequence ipilimumab and PD-1 antibody therapy? Michael A. Postow News in immunotherapy K10 An update on adjuvant and neoadjuvant therapy for melanom Ahmad Tarhini K11 Targeting multiple inhibitory receptors in melanoma Joe-Marc Chauvin, Ornella Pagliano, Julien Fourcade, Zhaojun Sun, Hong Wang, Cindy Sanders, John M. Kirkwood, Tseng-hui Timothy Chen, Mark Maurer, Alan J. Korman, Hassane M. Zarour K12 Improving adoptive immune therapy using genetically engineered T cells David F. Stroncek Tumor microenvironment and biomarkers K13 Myeloid cells and tumor exosomes: a crosstalk for assessing immunosuppression? Veronica Huber, Licia Rivoltini K14 Update on the SITC biomarker taskforce: progress and challenges Magdalena Thurin World-wide immunosc
Published: 2016

22. Long QT Syndrome and Brugada Syndrome : 2 aspects of the same disease?

Author: Cerrone, M, Crotti, L, Faggiano, G, De Michelis, V, Napolitano, C, Schwartz, P, Priori, S, Cerrone M, Crotti L, Faggiano G, De Michelis V, Napolitano C, Schwartz PJ, Priori SG., Cerrone, M, Crotti, L, Faggiano, G, De Michelis, V, Napolitano, C, Schwartz, P, Priori, S, Cerrone M, Crotti L, Faggiano G, De Michelis V, Napolitano C, Schwartz PJ, and Priori SG.
Abstract: In clinical cardiology, resort has recently been made to molecular genetics in order to explain some mechanisms that underlie sudden cardiac death in young people with structurally normal hearts. It has become evident that genetic mutations regarding cardiac ion channels may disrupt the delicate balance of currents in the action potential, thus inducing malignant ventricular tachyarrhythmias. The cardiac sodium channel gene, SCN5A, is involved in two of such arrhythmogenic diseases, the Brugada syndrome and one form of the long QT syndrome (LQT3). It is believed that these syndromes result from opposite molecular effects: Brugada syndrome mutations cause a reduced sodium current, while LQT3 mutations are associated with a gain of function. The effects of class I antiarrhythmic drugs have been used to differentiate these diseases. Intravenous flecainide is used as a highly specific test to unmask the electrocardiographic phenotype of the Brugada syndrome. On the other hand, on the basis of experimental and clinical studies, the possibility that the same drugs act as a gene-specific therapy in this disorder by contrasting the effect of mutations in LQT3 has been explored. Recent evidence shows that phenotypic overlap may exist between the Brugada syndrome and LQT3. One large family with a SCN5A mutation and a "mixed" electrocardiographic pattern (prolonged QT interval and ST-segment elevation) has been reported. Moreover, our recent data showed that flecainide challenge may elicit ST-segment elevation in some LQT3 patients. The presence of "intermediate" phenotypes highlights a remarkable heterogeneity suggesting that clinical features may depend upon the single mutation. Only deepened understanding of the genotype-phenotype correlation will allow the definition of the individual patient's risk and the development of guidelines for clinical management.
Published: 2001

23. Biphasic Kinetics of HCV-RNA Decay is Accompanied by an even Faster Aminotransferases Normalization in All-Daa Treated Cirrhotic Patients: A Different Scenario from Interferon-Based Therapies

Author: Cento, V., primary, Di Carlo, D., additional, Nguyen, T.H.T., additional, Biliotti, E., additional, Pasquazzi, C., additional, Gianserra, L., additional, Di Paolo, D., additional, Calvaruso, V., additional, Teti, E., additional, Cerrone, M., additional, Romagnoli, D., additional, Melis, M., additional, Danieli, E., additional, Menzaghi, B., additional, Polilli, E., additional, Siciliano, M., additional, Nicolini, L.A., additional, Di Biagio, A., additional, Magni, C.F., additional, Antonucci, F.P., additional, Di Maio, V.C., additional, Alfieri, R., additional, Sarmati, L., additional, Casalino, P., additional, Bernardini, S., additional, Micheli, V., additional, Rizzardini, G., additional, Villa, E., additional, Parruti, G., additional, Quirino, T., additional, Puoti, M., additional, Babudieri, S., additional, Monforte, A. D’A., additional, Andreoni, M., additional, Craxì, A., additional, Lenci, I., additional, Angelico, M., additional, Taliani, G., additional, Guedj, J., additional, Ceccherini-Silberstein, F., additional, and Perno, C.F., additional
Published: 2016
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24. Numerical Simulation of Induction Hardening of Gears for Aeronautical Industry

Author: Cerrone, M., Dughiero, Fabrizio, Forzan, Michele, Pelissero, F., and Spezzapria, Mattia
Published: 2013

25. Long QT Syndrome and Brugada Syndrome : 2 aspects of the same disease?

Author: Cerrone, M., Crotti, L., Faggiano, G., Michelis, V., Napolitano, C., Peter J. Schwartz, Priori, S. G., Cerrone, M, Crotti, L, Faggiano, G, De Michelis, V, Napolitano, C, Schwartz, P, and Priori, S
Subjects: Diagnosis, Differential, long qt syndrome, Brugada syndrome, Long QT Syndrome, Death, Sudden, Cardiac, Humans, Syndrome, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, Anti-Arrhythmia Agents, Syncope
Abstract: In clinical cardiology, resort has recently been made to molecular genetics in order to explain some mechanisms that underlie sudden cardiac death in young people with structurally normal hearts. It has become evident that genetic mutations regarding cardiac ion channels may disrupt the delicate balance of currents in the action potential, thus inducing malignant ventricular tachyarrhythmias. The cardiac sodium channel gene, SCN5A, is involved in two of such arrhythmogenic diseases, the Brugada syndrome and one form of the long QT syndrome (LQT3). It is believed that these syndromes result from opposite molecular effects: Brugada syndrome mutations cause a reduced sodium current, while LQT3 mutations are associated with a gain of function. The effects of class I antiarrhythmic drugs have been used to differentiate these diseases. Intravenous flecainide is used as a highly specific test to unmask the electrocardiographic phenotype of the Brugada syndrome. On the other hand, on the basis of experimental and clinical studies, the possibility that the same drugs act as a gene-specific therapy in this disorder by contrasting the effect of mutations in LQT3 has been explored. Recent evidence shows that phenotypic overlap may exist between the Brugada syndrome and LQT3. One large family with a SCN5A mutation and a "mixed" electrocardiographic pattern (prolonged QT interval and ST-segment elevation) has been reported. Moreover, our recent data showed that flecainide challenge may elicit ST-segment elevation in some LQT3 patients. The presence of "intermediate" phenotypes highlights a remarkable heterogeneity suggesting that clinical features may depend upon the single mutation. Only deepened understanding of the genotype-phenotype correlation will allow the definition of the individual patient's risk and the development of guidelines for clinical management.
Published: 2001

26. Novel mechanism of KCNJ2-related short QT syndrome

Author: Ruan, Y., Cerrone, M., Novelli, V., Liu, N., Blaufox, A. D., Sicca, F., Moro, F., Pessia, Mauro, Napolitano, C., and Priori, S.
Subjects: Potassium channel, Qt interval, Genetics
Published: 2011

27. Urotensin II receptor determines prognosis of bladder cancer regulating cell motility/invasion

Author: Franco, R, Zappavigna, S, Gigantino, V, Luce, A, Cantile, M, Cerrone, M, Facchini, G, Perdonà, S, Pignata, S, Di Lorenzo, G, Chieffi, S, Vitale, G, De Sio, M, Sgambato, Alessandro, Botti, G, Yousif, Am, Novellino, E, Grieco, P, Caraglia, M., Sgambato, Alessandro (ORCID:0000-0002-9487-4563), Franco, R, Zappavigna, S, Gigantino, V, Luce, A, Cantile, M, Cerrone, M, Facchini, G, Perdonà, S, Pignata, S, Di Lorenzo, G, Chieffi, S, Vitale, G, De Sio, M, Sgambato, Alessandro, Botti, G, Yousif, Am, Novellino, E, Grieco, P, Caraglia, M., and Sgambato, Alessandro (ORCID:0000-0002-9487-4563)
Abstract: Non Muscle Invasive Bladder Transitional Cancer (NMIBC) and Muscle Invasive Bladder Transitional Cancer (MIBC)/invasive have different gene profile and clinical course. NMIBC prognosis is not completely predictable, since the relapse rate is higher than 20%, even in the form of MIBC. The aim of this study is to evaluate if UTR expression can discriminate between NMIBC and MIBC and predict the risk of relapses in NMIBCs.
Published: 2014

28. Experimental Therapy of Genetic Arrhythmias: Disease-Specific Pharmacology

Author: Priori, S.G., primary, Napolitano, C., additional, and Cerrone, M., additional
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29. β-Blockers as Antiarrhythmic Agents

Author: Priori, S.G., primary, Napolitano, C., additional, and Cerrone, M., additional
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30. SUPER-RESOLUTION IMAGING IN HIPSC-CMS TO STUDY ARRHYTHMOGENIC CARDIOMYOPATHY IN A PATIENT WITH AN SCN5A MUTATION

Author: Agullo-Pascual, E., primary, Lin, X., additional, Bu, L., additional, Bin, L., additional, Zhang, M., additional, Cerrone, M., additional, Fowler, S., additional, Murray, B., additional, te Riele, A.S., additional, James, C.A., additional, Tichnell, C., additional, Calkins, H., additional, Rothenberg, E., additional, Judge, D.P., additional, and Delmar, M., additional
Published: 2014
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31. Le cicatrici degli interventi chirurgici di compartimentalizzazione atriale possono condurre a distanza dalla procedura?

Author: Petracci, B., DE FERRARI, Gaetano, Cantu', F., Frattini, F., Vigano', Mario, Pellegrini, Carlo, Russo, G., Cerrone, M., Rordorf, R., De Filippo, P., and Landolina, M.
Published: 2003

32. Preliminary results of an ergonomic study to investigate older drivers and passengers needs

Author: Fubini, Enrica, Leone, S., Cerrone, M., Barello, A., Bellanca, I., Campanella, C., Abba', Cagliuso, M., Peralma, L., and Toscano, E.
Published: 2002

33. Ergonomic requirements of elderly people using cars as drivers or passengers

Author: Fubini, Enrica, Leone, S., Cerrone, M., Barello, A., Bellanca, I., Campanella, C., Toscano, E., Abb, A., Cagliuso, M., and Peralma, L.
Published: 2002

34. Studio delle esigenze ergonomiche delle persone anziane in funzione dell'uso delle autovetture come guidatori o come passeggeri

Author: Fubini, Enrica, Leone, S., Cerrone, M., Barello, A., Bellanca, I., Campanella, C., Abb, A., Cagliuso, M., and Peralma, L.
Published: 2001

35. FRI-196 - Biphasic Kinetics of HCV-RNA Decay is Accompanied by an even Faster Aminotransferases Normalization in All-Daa Treated Cirrhotic Patients: A Different Scenario from Interferon-Based Therapies

Author: Cento, V., Di Carlo, D., Nguyen, T.H.T., Biliotti, E., Pasquazzi, C., Gianserra, L., Di Paolo, D., Calvaruso, V., Teti, E., Cerrone, M., Romagnoli, D., Melis, M., Danieli, E., Menzaghi, B., Polilli, E., Siciliano, M., Nicolini, L.A., Di Biagio, A., Magni, C.F., Antonucci, F.P., Di Maio, V.C., Alfieri, R., Sarmati, L., Casalino, P., Bernardini, S., Micheli, V., Rizzardini, G., Villa, E., Parruti, G., Quirino, T., Puoti, M., Babudieri, S., Monforte, A. D’A., Andreoni, M., Craxì, A., Lenci, I., Angelico, M., Taliani, G., Guedj, J., Ceccherini-Silberstein, F., and Perno, C.F.
Published: 2016
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36. Regulatory T cell frequency in patients with melanoma with different disease stage and course, and modulating effects of high-dose interferon-α 2b treatment

Author: Ascierto, PA, Napolitano, M, Celentano, E, Simeone, E, Gentilcore, G, Daponte, A, Capone, M, Caracò, C, Calemma, R, Beneduce, G, Cerrone, M, De Rosa, V, Palmieri, G, Castello, G, Kirkwood, JM, Marincola, FM, Mozzillo, N, Ascierto, PA, Napolitano, M, Celentano, E, Simeone, E, Gentilcore, G, Daponte, A, Capone, M, Caracò, C, Calemma, R, Beneduce, G, Cerrone, M, De Rosa, V, Palmieri, G, Castello, G, Kirkwood, JM, Marincola, FM, and Mozzillo, N
Abstract: Background: High-dose interferon-alpha 2b (IFN-α 2b) is the only approved systemic therapy in the United States for the adjuvant treatment of melanoma. The study objective was to explore the immunomodulatory mechanism of action for IFN-α 2b by measuring serum regulatory T cell (Treg), serum transforming growth factor-β (TGF-β), interleukin (IL)-10, and autoantibody levels in patients with melanoma treated with the induction phase of the high-dose IFN-α 2b regimen.Methods: Patients with melanoma received IFN-α 2b administered intravenously (20 MU/m2 each day from day 1 to day 5 for 4 consecutive weeks). Serum Treg levels were measured as whole lymphocytes in CD4+ cells using flow cytometry while TGF-β, IL-10, and autoantibody levels were measured using enzyme-linked immunosorbent assays.Results: Twenty-two patients with melanoma received IFN-α 2b treatment and were evaluated for Treg levels. Before treatment, Treg levels were significantly higher in patients with melanoma when compared with data from 20 healthy subjects (P = 0.001; Mann-Whitney test). Although a trend for reduction of Treg levels following IFN-α 2b treatment was observed (average decrease 0.29% per week), statistical significance was not achieved. Subgroup analyses indicated higher baseline Treg levels for stage III versus IV disease (P = 0.082), early recurrence versus no recurrence (P = 0.017), deceased versus surviving patients (P = 0.021), and preoperative neoadjuvant versus postoperative adjuvant treatment groups (not significant). No significant effects were observed on the levels of TGF-β, IL-10, and autoantibodies in patients with melanoma treated with IFN-α 2b.Conclusions: Patients with melanoma in this study showed increased basal levels of Treg that may be relevant to their disease and its progression. Treg levels shifted in patients with melanoma treated with IFN-α 2b, although no firm conclusions regarding the role of Tregs as a marker of treatment response or outcome can be made at pres
Published: 2010

37. Missense Mutations in Plakophilin-2 Can Cause Brugada Syndrome Phenotype By Decreasing Sodium Current and Nav1.5 Membrane Localization

Author: Cerrone, M., primary, Lin, X., additional, Zhang, M., additional, Agullo-Pascual, E., additional, Pfenniger, A., additional, Chkourko Gusky, H., additional, Novelli, V., additional, Kim, C., additional, Tirasawadischai, T., additional, Judge, D.P., additional, Rothenberg, E., additional, Chen, H.V., additional, Napolitano, C., additional, Priori, S.G., additional, and Delmar, M., additional
Published: 2013
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38. Deregulation of HOX B13 Expression in Urinary Bladder Cancer Progression

Author: Marra, L., primary, Cantile, M., additional, Scognamiglio, G., additional, Marra, L., additional, Perdona, S., additional, La Mantia, E., additional, Cerrone, M., additional, Gigantino, V., additional, Cillo, C., additional, Caraglia, M., additional, Pignata, S., additional, Facchini, G., additional, Botti, G., additional, Chieffi, S., additional, Chieffi, P., additional, and Franco, R., additional
Published: 2013
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39. Genetics of sudden death: focus on inherited channelopathies

Author: Cerrone, M., primary and Priori, S. G., additional
Published: 2011
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40. Routine electrocardiogram and medical history in syncope: a simple approach can identify most high-risk patients

Author: Cerrone, M., primary and Priori, S. G., additional
Published: 2009
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41. Effect of antigen-specific T helper cells or interleukin-2 on suppressive ability of macrophage subsets detected in spleens of Trypanosoma cruzi-infected mice as determined by limiting dilution-partition analysis

Author: Cerrone, M C, primary, Ritter, D M, additional, and Kuhn, R E, additional
Published: 1992
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42. Catecholaminergic polymorphic ventricular tachycardia: A paradigm to understand mechanisms of arrhythmias associated to impaired Ca(2+) regulation.

Author: Cerrone M, Napolitano C, Priori SG, Cerrone, Marina, Napolitano, Carlo, and Priori, Silvia G
Abstract: In the 8 years since the discovery of the genetic bases of catecholaminergic polymorphic ventricular tachycardia (CPVT), we have witnessed a remarkable improvement of knowledge on arrhythmogenic mechanisms involving disruption of cardiac Ca(2+) homeostasis. Studies on the consequences of RyR2 and CASQ2 mutations in cellular systems and mouse models have shed new light on pathways that are also implicated in arrhythmias occurring in highly prevalent diseases, such as heart failure. This research track has also led to the identification of therapeutic targets of potential clinical impact to abate the burden of sudden death in CPVT. Here, we review the current knowledge on the pathophysiology of CPVT also highlighting the existing controversies and possible future development. [ABSTRACT FROM AUTHOR]
Published: 2009
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43. Cloning and sequence of the gene for heat shock protein 60 from Chlamydia trachomatis and immunological reactivity of the protein

Author: Cerrone, M C, primary, Ma, J J, additional, and Stephens, R S, additional
Published: 1991
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44. Cysteine‐rich outer membrane proteins of Chlamydia trachomatis display compensatory sequence changes between biovariants

Author: Allen, J. E., primary, Cerrone, M. C., additional, Beatty, P. R., additional, and Stephens, R. S., additional
Published: 1990
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45. Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome.

Author: Schwartz PJ, Priori SG, Cerrone M, Spazzolini C, Odero A, Napolitano C, Bloise R, De Ferrari GM, Klersy C, Moss AJ, Zareba W, Robinson JL, Hall WJ, Brink PA, Toivonen L, Epstein AE, Li C, and Hu D
Published: 2004

46. Cysteine-rich outer membrane proteins of <em>Chlamydia trachomatis</em> display compensatory sequence changes between biovariants.

Author: Allen, J. E., Cerrone, M. C., Beatty, P. R., and Stephens, R. S.
Subjects: CHLAMYDIA trachomatis, PROTEINS, LYMPHOGRANULOMA venereum, AMINO acid sequence, LIPOPROTEINS
Abstract: Two cysteine-rich proteins of Chlamydia trachomatis are essential structural components of the unique outer membrane of the infectious elementary body. These 58000 (outer membrane protein 2; OMP2) and 15000 (OMP3) proteins also differ structurally and chemically between biovariants that differ in invasive capability. We have identified the gene for OMP3 and sequenced both trachoma and lymphogranuloma venereum (LGV) omp3 genes. We have previously sequenced omp2 from the LGV biovar and now describe the omp2 sequence for a trachoma biovariant. Amino acid sequence differences between biovariants were few but, significantly, these changes have altered the charge of both OMP2 and OMP3 such that the net charge of each protein differs between biovariants. These compensatory charge alterations have implications for the outer membrane organization of these proteins. In addition, examination of the OMP3 sequence suggests that OMP3 may be a lipoprotein. [ABSTRACT FROM AUTHOR]
Published: 1990
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47. Natural history and genetic aspects of the Jervell and Lange-Nielsen syndrome

Author: Cerrone, M., Peter J. Schwartz, Priori, Sg, Spazzolini, C., Denjoy, I., Guicheney, P., Schulze-Bahr, E., Moss, Aj, Zareba, W., Hashiba, K., Tanabe, T., Tanaka, T., Bathen, J., Amlie, Jp, Bitner-Glindzicz, M., Tyson, J., Timothy, Kw, Vincent, Gmm, George, Al, and Napolitano, C.

48. Il non stress test in gravidanze complicate da diabete di tipo

Author: Campanile, M., Maria Vittoria BARONE, Corrado, Z., Cerrone, M., Monteleone, G., D Amaro, R., Desantis, B., Nobler, L., and Iannotti, G.

49. Long QT syndrome and brugada syndrome: Two aspects of the same disease?,Sindrome del QT lungo e sindrome di brugada: Due aspetti della stessa malattia?

Author: Cerrone, M., lia crotti, Faggiano, G., Michelis, V., Napolitano, C., Schwartz, P. J., and Priori, S. G.

50. Planning and managing a seismic emergency: The INGV drill of November 26th, 2015 carried out in the framework of the activity line T5 'Seismic surveillance and post-earthquake operational procedures',Pianificazione e gestione di un'emergenza sismica: Esercitazione INGV del 26 novembre 2015 effettuata nell'ambito della Linea di Attività T5 'Sorveglianza sismica e operatività post terremoto'

Author: Pondrelli, S., Amato, A., Massa, M., Montone, P., Crescimbene, M., La Longa, F., Azzaro, R., Bizzarri, A., Camassi, R., Cerrone, M., Cultrera, G., D Alema, E., Di Giovanbattista, R., Martini, P. M., Galadini, F., Improta, L., Marzocchi, W., Lucia Margheriti, Mattoni, S., Meletti, C., Michelini, A., Moretti, M., Nostro, C., Pantosti, D., Pignone, M., Pintore, S., Piromallo, C., Scarlato, P., Scognamiglio, L., Sorrentino, D., and Tertulliani, A.

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