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1. Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Author

Anesi, Adriano, Arca, Marcello, Auricchio, Renata, Averna, Maurizio, Baldera, Davide, Banderali, Giuseppe, Beccuti, Guglielmo, Benso, Andrea, Berteotti, Martina, Bertolini, Stefano, Bianconi, Vanessa, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Bruzzi, Patrizia, Bucci, Marco, Buonuomo, Paola Sabrina, Calabrò, Paolo, Calandra, Sebastiano, Carubbi, Francesca, Cavallaro, Raimondo, Cefalù, Angelo Baldassarre, Cesaro, Arturo, Cipollone, Francesco, Citroni, Nadia, Colombo, Emanuela, Coppola, Chiara, D'Addato, Sergio, Dal Pino, Beatrice, Dalla Nora, Edoardo, De Corrado, Giuseppe, Del Ben, Maria, Di Molfetta, Sergio, Di Taranto, Maria Donata, Fainelli, Giulia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Formisano, Elena, Fortunato, Giuliana, Giaccari, Andrea, Giorgino, Francesco, Grigore, Liliana, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iannuzzo, Gabriella, Iughetti, Lorenzo, Lia, Salvatore, Longo, Susanna, Lupi, Alessandro, Mandraffino, Giuseppe, Marcucci, Rossella, Maroni, Lorenzo, Massini, Giulia, Mazza, Elisa, Melchioda, Elena, Meregalli, Giancarla, Minicocci, Ilenia, Moffa, Simona, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Negri, Emanuele Alberto, Notargiacomo, Serena, Panfili, Filippo Maria, Parati, Gianfranco, Passaro, Angelina, Pavanello, Chiara, Pecchioli, Valerio, Pecchioli, Lorenzo, Pellegatta, Fabio, Perla, Francesco Massimo, Pipolo, Antonio, Piro, Salvatore, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Putotto, Carolina, Repetti, Elena, Rinaldi, Elisabetta, Romandini, Alessandra, Sani, Elena, Sarnari, Silvia, Sarzani, Riccardo, Sbrana, Francesco, Scicali, Roberto, Scuruchi, Michele, Suppressa, Patrizia, Tarugi, Patrizia, Trenti, Chiara, Vinci, Pierandrea, Werba, José Pablo, Zambon, Sabina, Zambon, Alberto, Zenti, Maria Grazia, Casula, Manuela, Gazzotti, Marta, Capra, Maria Elena, Olmastroni, Elena, Galimberti, Federica, Catapano, Alberico L., and Pederiva, Cristina

Published
2023
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3. Correction to: Tocilizumab for patients with COVID-19 pneumonia. The single-arm TOCIVID-19 prospective trial

Author

Perrone, Francesco, Piccirillo, Maria Carmela, Ascierto, Paolo Antonio, Salvarani, Carlo, Parrella, Roberto, Marata, Anna Maria, Popoli, Patrizia, Ferraris, Laurenzia, Marrocco-Trischitta, Massimiliano M., Ripamonti, Diego, Binda, Francesca, Bonfanti, Paolo, Squillace, Nicola, Castelli, Francesco, Muiesan, Maria Lorenza, Lichtner, Miriam, Calzetti, Carlo, Salerno, Nicola Duccio, Atripaldi, Luigi, Cascella, Marco, Costantini, Massimo, Dolci, Giovanni, Facciolongo, Nicola Cosimo, Fraganza, Fiorentino, Massari, Marco, Montesarchio, Vincenzo, Mussini, Cristina, Negri, Emanuele Alberto, Botti, Gerardo, Cardone, Claudia, Gargiulo, Piera, Gravina, Adriano, Schettino, Clorinda, Arenare, Laura, Chiodini, Paolo, and Gallo, Ciro

Published
2021
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4. Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study

Author

Casula, Manuela, primary, Gazzotti, Marta, additional, Capra, Maria Elena, additional, Olmastroni, Elena, additional, Galimberti, Federica, additional, Catapano, Alberico L., additional, Pederiva, Cristina, additional, Anesi, Adriano, additional, Arca, Marcello, additional, Auricchio, Renata, additional, Averna, Maurizio, additional, Baldera, Davide, additional, Banderali, Giuseppe, additional, Beccuti, Guglielmo, additional, Benso, Andrea, additional, Berteotti, Martina, additional, Bertolini, Stefano, additional, Bianconi, Vanessa, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Calabrò, Paolo, additional, Calandra, Sebastiano, additional, Carubbi, Francesca, additional, Cavallaro, Raimondo, additional, Cefalù, Angelo Baldassarre, additional, Cesaro, Arturo, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Colombo, Emanuela, additional, Coppola, Chiara, additional, D'Addato, Sergio, additional, Dal Pino, Beatrice, additional, Dalla Nora, Edoardo, additional, De Corrado, Giuseppe, additional, Del Ben, Maria, additional, Di Molfetta, Sergio, additional, Di Taranto, Maria Donata, additional, Fainelli, Giulia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Formisano, Elena, additional, Fortunato, Giuliana, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Grigore, Liliana, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iannuzzo, Gabriella, additional, Iughetti, Lorenzo, additional, Lia, Salvatore, additional, Longo, Susanna, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Massini, Giulia, additional, Mazza, Elisa, additional, Melchioda, Elena, additional, Meregalli, Giancarla, additional, Minicocci, Ilenia, additional, Moffa, Simona, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Nascimbeni, Fabio, additional, Negri, Emanuele Alberto, additional, Notargiacomo, Serena, additional, Panfili, Filippo Maria, additional, Parati, Gianfranco, additional, Passaro, Angelina, additional, Pavanello, Chiara, additional, Pecchioli, Valerio, additional, Pecchioli, Lorenzo, additional, Pellegatta, Fabio, additional, Perla, Francesco Massimo, additional, Pipolo, Antonio, additional, Piro, Salvatore, additional, Pirro, Matteo, additional, Pisciotta, Livia, additional, Pujia, Roberta, additional, Putotto, Carolina, additional, Repetti, Elena, additional, Rinaldi, Elisabetta, additional, Romandini, Alessandra, additional, Sani, Elena, additional, Sarnari, Silvia, additional, Sarzani, Riccardo, additional, Sbrana, Francesco, additional, Scicali, Roberto, additional, Scuruchi, Michele, additional, Suppressa, Patrizia, additional, Tarugi, Patrizia, additional, Trenti, Chiara, additional, Vinci, Pierandrea, additional, Werba, José Pablo, additional, Zambon, Sabina, additional, Zambon, Alberto, additional, and Zenti, Maria Grazia, additional

Published
2023
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5. Tocilizumab for patients with COVID-19 pneumonia. The single-arm TOCIVID-19 prospective trial

Author

Perrone, Francesco, Piccirillo, Maria Carmela, Ascierto, Paolo Antonio, Salvarani, Carlo, Parrella, Roberto, Marata, Anna Maria, Popoli, Patrizia, Ferraris, Laurenzia, Marrocco-Trischitta, Massimiliano M., Ripamonti, Diego, Binda, Francesca, Bonfanti, Paolo, Squillace, Nicola, Castelli, Francesco, Muiesan, Maria Lorenza, Lichtner, Miriam, Calzetti, Carlo, Salerno, Nicola Duccio, Atripaldi, Luigi, Cascella, Marco, Costantini, Massimo, Dolci, Giovanni, Facciolongo, Nicola Cosimo, Fraganza, Fiorentino, Massari, Marco, Montesarchio, Vincenzo, Mussini, Cristina, Negri, Emanuele Alberto, Botti, Gerardo, Cardone, Claudia, Gargiulo, Piera, Gravina, Adriano, Schettino, Clorinda, Arenare, Laura, Chiodini, Paolo, and Gallo, Ciro

Published
2020
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7. Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

Author

Olmastroni, Elena, primary, Gazzotti, Marta, additional, Averna, Maurizio, additional, Arca, Marcello, additional, Tarugi, Patrizia, additional, Calandra, Sebastiano, additional, Bertolini, Stefano, additional, Catapano, Alberico L., additional, Casula, Manuela, additional, D’Erasmo, Laura, additional, Cefalù, Angelo Baldassare, additional, Bartuli, Andrea, additional, Buonuomo, Paola Sabrina, additional, Benso, Andrea, additional, Beccuti, Guglielmo, additional, Biasucci, Giacomo, additional, Capra, Maria Elena, additional, Biolo, Gianni, additional, Vinci, Pierandrea, additional, Bonanni, Luca, additional, Borghi, Claudio, additional, D’Addato, Sergio, additional, Bossi, Antonio Carlo, additional, Meregalli, Giancarla, additional, Branchi, Adriana, additional, Calabrò, Paolo, additional, Carubbi, Francesca, additional, Nascimbeni, Fabio, additional, Cipollone, Francesco, additional, Bucci, Marco, additional, Citroni, Nadia, additional, Del Ben, Maria, additional, Baratta, Francesco, additional, Federici, Massimo, additional, Montagna, Martina, additional, Ferri, Claudio, additional, Notargiacomo, Serena, additional, Fiorenza, Anna Maria, additional, Colombo, Emanuela, additional, Fortunato, Giuliana, additional, Di Taranto, Maria Donata, additional, Giaccari, Andrea, additional, Moffa, Simona, additional, Giorgino, Francesco, additional, Di Molfetta, Sergio, additional, Guardamagna, Ornella, additional, De Sanctis, Luisa, additional, Iannuzzi, Arcangelo, additional, Cavallaro, Raimondo, additional, Iannuzzo, Gabriella, additional, Gentile, Marco, additional, Iughetti, Lorenzo, additional, Bruzzi, Patrizia, additional, Lia, Salvatore, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Toscano, Arianna, additional, Marcucci, Rossella, additional, Berteotti, Martina, additional, Maroni, Lorenzo, additional, Locatelli, Fabiana, additional, Montalcini, Tiziana, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Baldera, Davide, additional, Parati, Gianfranco, additional, Passaro, Angelina, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Banderali, Giuseppe, additional, Pipolo, Antonio, additional, D’Elia, Debora, additional, Pirro, Matteo, additional, Bianconi, Vanessa, additional, Pisciotta, Livia, additional, Formisano, Elena, additional, Purrello, Francesco, additional, Scicali, Roberto, additional, Repetti, Elena, additional, Cantino, Elena, additional, Rinaldi, Elisabetta, additional, Sani, Elena, additional, Sarzani, Riccardo, additional, Spannella, Francesco, additional, Sbrana, Francesco, additional, Dal Pino, Beatrice, additional, Suppressa, Patrizia, additional, Cocco, Veronica, additional, Trenti, Chiara, additional, Negri, Emanuele Alberto, additional, Werba, Josè Pablo, additional, Romandini, Alessandra, additional, Zambon, Sabina, additional, Zambon, Alberto, additional, Zenti, Maria Grazia, additional, Fainelli, Giulia, additional, Pellegatta, Fabio, additional, Grigore, Liliana, additional, Bonomo, Katia, additional, Capatti, Eleonora, additional, Cutolo, Ada, additional, Fimiani, Fabio, additional, Genovesi, Simonetta, additional, Inchiostro, Sandro, additional, Pavanello, Chiara, additional, Pujia, Roberta, additional, Schaffer, Alon, additional, Catapano, Alberico Luigi, additional, Olmastroni, Elena, additional, and Galimberti, Federica, additional

Published
2023
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8. Twelve Variants Polygenic Score for Low‐Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

Author

Olmastroni, Elena, primary, Gazzotti, Marta, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Pirillo, Angela, additional, Catapano, Alberico Luigi, additional, Casula, Manuela, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Pellegatta, Fabio, additional, Bartuli, Andrea, additional, Benso, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Calabrò, Paolo, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Del Ben, Maria, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iannuzzo, Gabriella, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Antonio, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Sabbà, Carlo, additional, Sarzani, Riccardo, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Di Costanzo, Alessia, additional, Fortunato, Giuliana, additional, Spina, Rossella, additional, Baldera, Davide, additional, Banderali, Giuseppe, additional, Baratta, Francesco, additional, Beccuti, Guglielmo, additional, Bertocco, Sandra, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Cardolini, Iris, additional, Cefalù, Angelo Baldassarre, additional, Cinquegrani, Maria, additional, Colombo, Emanuela, additional, Covetti, Giuseppe, additional, Cremonini, Anna Laura, additional, Cutolo, Ada, additional, D’Addato, Sergio, additional, D’Ambrosio, Vincenzo, additional, De Corrado, Giuseppe, additional, Di Pentima, Chiara, additional, Fimiani, Fabio, additional, Gentile, Marco, additional, Ghirardello, Omar, additional, Giusti, Betti, additional, Grassi, Davide, additional, Grigore, Liliana, additional, Massini, Giulia, additional, Meregalli, Giancarla, additional, Minicocci, Ilenia, additional, Moffa, Simona, additional, Montalcini, Tiziana, additional, Nascimbeni, Fabio, additional, Negri, Emanuele Alberto, additional, Pavanello, Chiara, additional, Prati, Lucia, additional, Roscini, Anna Rita, additional, Sani, Elena, additional, Schaffer, Alon, additional, Scicali, Roberto, additional, Suppressa, Patrizia, additional, Tedeschi, Michele, additional, Vinci, Pierandrea, additional, Manzato, Enzo, additional, Tragni, Elena, additional, and Zampoleri, Veronica, additional

Published
2022
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9. Intravenous methylprednisolone pulses in hospitalised patients with severe COVID-19 pneumonia: a double-blind, randomised, placebo-controlled trial

Author

Salvarani, Carlo, primary, Massari, Marco, additional, Costantini, Massimo, additional, Merlo, Domenico Franco, additional, Mariani, Gabriella Lucia, additional, Viale, Pierluigi, additional, Nava, Stefano, additional, Guaraldi, Giovanni, additional, Dolci, Giovanni, additional, Boni, Luca, additional, Savoldi, Luisa, additional, Bruzzi, Paolo, additional, Turrà, Caterina, additional, Catanoso, Mariagrazia, additional, Marata, Anna Maria, additional, Barbieri, Chiara, additional, Valcavi, Annamaria, additional, Franzoni, Francesca, additional, Cavuto, Silvio, additional, Mazzi, Giorgio, additional, Corsini, Romina, additional, Trapani, Fabio, additional, Bartoloni, Alessandro, additional, Barisione, Emanuela, additional, Burastero, Giulia Jole, additional, Pan, Angelo, additional, Inojosa, Walter, additional, Scala, Raffaele, additional, Burattini, Cecilia, additional, Luppi, Fabrizio, additional, Codeluppi, Mauro, additional, Tarek, Kamal Eldin, additional, Cenderello, Giovanni, additional, Salio, Mario, additional, Foti, Giuseppe, additional, Dongilli, Roberto, additional, Bajocchi, Gianluigi, additional, Negri, Emanuele Alberto, additional, Ciusa, Giacomo, additional, Fornaro, Giacomo, additional, Bassi, Ilaria, additional, Zammarchi, Lorenzo, additional, Aloè, Teresita, additional, and Facciolongo, Nicola, additional

Published
2022
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10. Predictive factors of clinical outcomes in patients with COVID-19 treated with tocilizumab: A monocentric retrospective analysis

Author

Cassone, Giulia, primary, Dolci, Giovanni, additional, Besutti, Giulia, additional, Braglia, Luca, additional, Pavone, Paolo, additional, Corsini, Romina, additional, Sampaolesi, Fabio, additional, Iotti, Valentina, additional, Teopompi, Elisabetta, additional, Massari, Marco, additional, Fontana, Matteo, additional, Ghidoni, Giulia, additional, Matei, Anaflorina, additional, Croci, Stefania, additional, Negri, Emanuele Alberto, additional, Costantini, Massimo, additional, Facciolongo, Nicola, additional, and Salvarani, Carlo, additional

Published
2022
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11. Additional file 1 of Tocilizumab for patients with COVID-19 pneumonia. The single-arm TOCIVID-19 prospective trial

Author

Perrone, Francesco, Piccirillo, Maria Carmela, Ascierto, Paolo Antonio, Salvarani, Carlo, Parrella, Roberto, Marata, Anna Maria, Popoli, Patrizia, Ferraris, Laurenzia, Marrocco-Trischitta, Massimiliano M., Ripamonti, Diego, Binda, Francesca, Bonfanti, Paolo, Squillace, Nicola, Castelli, Francesco, Muiesan, Maria Lorenza, Lichtner, Miriam, Calzetti, Carlo, Salerno, Nicola Duccio, Atripaldi, Luigi, Cascella, Marco, Costantini, Massimo, Dolci, Giovanni, Facciolongo, Nicola Cosimo, Fraganza, Fiorentino, Massari, Marco, Montesarchio, Vincenzo, Mussini, Cristina, Negri, Emanuele Alberto, Botti, Gerardo, Cardone, Claudia, Gargiulo, Piera, Gravina, Adriano, Schettino, Clorinda, Arenare, Laura, Chiodini, Paolo, and Gallo, Ciro

Abstract

Additional file 1. TOCIVID-19_Appendix.

Published
2020
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12. Tocilizumab for patients with COVID-19 pneumonia. The single-arm TOCIVID-19 prospective trial

Author

Perrone, F, Piccirillo, M, Ascierto, P, Salvarani, C, Parrella, R, Marata, A, Popoli, P, Ferraris, L, Marrocco-Trischitta, M, Ripamonti, D, Binda, F, Bonfanti, P, Squillace, N, Castelli, F, Muiesan, M, Lichtner, M, Calzetti, C, Salerno, N, Atripaldi, L, Cascella, M, Costantini, M, Dolci, G, Facciolongo, N, Fraganza, F, Massari, M, Montesarchio, V, Mussini, C, Negri, E, Botti, G, Cardone, C, Gargiulo, P, Gravina, A, Schettino, C, Arenare, L, Chiodini, P, Gallo, C, Perrone, Francesco, Piccirillo, Maria Carmela, Ascierto, Paolo Antonio, Salvarani, Carlo, Parrella, Roberto, Marata, Anna Maria, Popoli, Patrizia, Ferraris, Laurenzia, Marrocco-Trischitta, Massimiliano M, Ripamonti, Diego, Binda, Francesca, Bonfanti, Paolo, Squillace, Nicola, Castelli, Francesco, Muiesan, Maria Lorenza, Lichtner, Miriam, Calzetti, Carlo, Salerno, Nicola Duccio, Atripaldi, Luigi, Cascella, Marco, Costantini, Massimo, Dolci, Giovanni, Facciolongo, Nicola Cosimo, Fraganza, Fiorentino, Massari, Marco, Montesarchio, Vincenzo, Mussini, Cristina, Negri, Emanuele Alberto, Botti, Gerardo, Cardone, Claudia, Gargiulo, Piera, Gravina, Adriano, Schettino, Clorinda, Arenare, Laura, Chiodini, Paolo, Gallo, Ciro, Perrone, F, Piccirillo, M, Ascierto, P, Salvarani, C, Parrella, R, Marata, A, Popoli, P, Ferraris, L, Marrocco-Trischitta, M, Ripamonti, D, Binda, F, Bonfanti, P, Squillace, N, Castelli, F, Muiesan, M, Lichtner, M, Calzetti, C, Salerno, N, Atripaldi, L, Cascella, M, Costantini, M, Dolci, G, Facciolongo, N, Fraganza, F, Massari, M, Montesarchio, V, Mussini, C, Negri, E, Botti, G, Cardone, C, Gargiulo, P, Gravina, A, Schettino, C, Arenare, L, Chiodini, P, Gallo, C, Perrone, Francesco, Piccirillo, Maria Carmela, Ascierto, Paolo Antonio, Salvarani, Carlo, Parrella, Roberto, Marata, Anna Maria, Popoli, Patrizia, Ferraris, Laurenzia, Marrocco-Trischitta, Massimiliano M, Ripamonti, Diego, Binda, Francesca, Bonfanti, Paolo, Squillace, Nicola, Castelli, Francesco, Muiesan, Maria Lorenza, Lichtner, Miriam, Calzetti, Carlo, Salerno, Nicola Duccio, Atripaldi, Luigi, Cascella, Marco, Costantini, Massimo, Dolci, Giovanni, Facciolongo, Nicola Cosimo, Fraganza, Fiorentino, Massari, Marco, Montesarchio, Vincenzo, Mussini, Cristina, Negri, Emanuele Alberto, Botti, Gerardo, Cardone, Claudia, Gargiulo, Piera, Gravina, Adriano, Schettino, Clorinda, Arenare, Laura, Chiodini, Paolo, and Gallo, Ciro

Abstract

Background: Tocilizumab blocks pro-inflammatory activity of interleukin-6 (IL-6), involved in pathogenesis of pneumonia the most frequent cause of death in COVID-19 patients. Methods: A multicenter, single-arm, hypothesis-driven trial was planned, according to a phase 2 design, to study the effect of tocilizumab on lethality rates at 14 and 30 days (co-primary endpoints, a priori expected rates being 20 and 35%, respectively). A further prospective cohort of patients, consecutively enrolled after the first cohort was accomplished, was used as a secondary validation dataset. The two cohorts were evaluated jointly in an exploratory multivariable logistic regression model to assess prognostic variables on survival. Results: In the primary intention-to-treat (ITT) phase 2 population, 180/301 (59.8%) subjects received tocilizumab, and 67 deaths were observed overall. Lethality rates were equal to 18.4% (97.5% CI: 13.6-24.0, P = 0.52) and 22.4% (97.5% CI: 17.2-28.3, P < 0.001) at 14 and 30 days, respectively. Lethality rates were lower in the validation dataset, that included 920 patients. No signal of specific drug toxicity was reported. In the exploratory multivariable logistic regression analysis, older age and lower PaO2/FiO2 ratio negatively affected survival, while the concurrent use of steroids was associated with greater survival. A statistically significant interaction was found between tocilizumab and respiratory support, suggesting that tocilizumab might be more effective in patients not requiring mechanical respiratory support at baseline. Conclusions: Tocilizumab reduced lethality rate at 30 days compared with null hypothesis, without significant toxicity. Possibly, this effect could be limited to patients not requiring mechanical respiratory support at baseline. Registration EudraCT (2020-001110-38); clinicaltrials.gov (NCT04317092).

Published
2020

13. TOCIVID-19 - A multicenter study on the efficacy and tolerability of tocilizumab in the treatment of patients with COVID-19 pneumonia. Study protocol

Author

Piccirillo, Maria Carmela, primary, Ascierto, Paolo, additional, Atripaldi, Luigi, additional, Cascella, Marco, additional, Costantini, Massimo, additional, Dolci, Giovanni, additional, Facciolongo, Nicola, additional, Fraganza, Fiorentino, additional, Marata, AnnaMaria, additional, Massari, Marco, additional, Montesarchio, Vincenzo, additional, Mussini, Cristina, additional, Negri, Emanuele Alberto, additional, Parrella, Roberto, additional, Popoli, Patrizia, additional, Botti, Gerardo, additional, Arenare, Laura, additional, Chiodini, Paolo, additional, Gallo, Ciro, additional, Salvarani, Carlo, additional, and Perrone, Francesco, additional

Published
2020
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14. Feasibility and clinical impact of out-of-ICU noninvasive respiratory support in patients with COVID-19-related pneumonia

Author

Franco, Cosimo, primary, Facciolongo, Nicola, additional, Tonelli, Roberto, additional, Dongilli, Roberto, additional, Vianello, Andrea, additional, Pisani, Lara, additional, Scala, Raffaele, additional, Malerba, Mario, additional, Carlucci, Annalisa, additional, Negri, Emanuele Alberto, additional, Spoladore, Greta, additional, Arcaro, Giovanna, additional, Tillio, Paolo Amedeo, additional, Lastoria, Cinzia, additional, Schifino, Gioachino, additional, Tabbì, Luca, additional, Guidelli, Luca, additional, Guaraldi, Giovanni, additional, Ranieri, V. Marco, additional, Clini, Enrico, additional, and Nava, Stefano, additional

Published
2020
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15. Tocilizumab for patients with COVID-19 pneumonia. The TOCIVID-19 prospective phase 2 trial

Author

Perrone, Francesco, primary, Piccirillo, Maria Carmela, additional, Ascierto, Paolo Antonio, additional, Salvarani, Carlo, additional, Parrella, Roberto, additional, Marata, Anna Maria, additional, Popoli, Patrizia, additional, Ferraris, Laurenzia, additional, Marrocco-Trischitta, Massimiliano M., additional, Ripamonti, Diego, additional, Binda, Francesca, additional, Bonfanti, Paolo, additional, Squillace, Nicola, additional, Castelli, Francesco, additional, Muiesan, Maria Lorenza, additional, Lichtner, Miriam, additional, Calzetti, Carlo, additional, Salerno, Nicola Duccio, additional, Atripaldi, Luigi, additional, Cascella, Marco, additional, Costantini, Massimo, additional, Dolci, Giovanni, additional, Facciolongo, Nicola Cosimo, additional, Fraganza, Fiorentino, additional, Massari, Marco, additional, Montesarchio, Vincenzo, additional, Mussini, Cristina, additional, Negri, Emanuele Alberto, additional, Botti, Gerardo, additional, Cardone, Claudia, additional, Gargiulo, Piera, additional, Gravina, Adriano, additional, Schettino, Clorinda, additional, Arenare, Laura, additional, Chiodini, Paolo, additional, and Gallo, Ciro, additional

Published
2020
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16. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Author

Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, SabbÃ&nbsp, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Averna, M., Cefalu', A., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A., Tarugi, P., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalã¹, A., Barbagallo, C., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Vinsin, A., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Chiodo, L., Garlaschelli, K., Manzato, E., Tragni, E., Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Cefalù, Angelo B., Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, and Colombo, Emanuela

Subjects
0301 basic medicine, Candidate gene, Genetic testing, Settore MED/09 - Medicina Interna, Databases, Factual, DNA Mutational Analysis, Disease, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, 0302 clinical medicine, Dyslipidemias, National network, Internal Medicine, Cardiology and Cardiovascular Medicine, Risk Factors, Prospective Studies, Program Development, Prospective cohort study, medicine.diagnostic_test, General Medicine, Prognosis, Cholesterol, Phenotype, Italy, Genetic Markers, medicine.medical_specialty, MEDLINE, Hyperlipoproteinemia Type II, 03 medical and health sciences, Databases, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Factual, Retrospective Studies, business.industry, Settore MED/13 - ENDOCRINOLOGIA, Retrospective cohort study, medicine.disease, Atherosclerosis, Mutation, 030104 developmental biology, Endocrinology, Dyslipidemia, Genetic marker, business
Abstract

Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers. Results and conclusions: From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score >= 6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy. (C) 2017 The Authors. Published by Elsevier Ireland Ltd.

Published
2017

17. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Author

Pirillo, Angela, Garlaschelli, Katia, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Catapano, Alberico L., Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, SabbÃ&nbsp, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Cefalã¹, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Manzato, Enzo, Tragni, Elena, Pirillo, Angela, Garlaschelli, Katia, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Catapano, Alberico L., Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Cefalã¹, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Manzato, Enzo, Tragni, Elena, Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, Cefalù, A. Baldassarre, DI BELLO, Francesca, Pirillo, A., Garlaschelli, K., Arca, M., Averna, M., Bertolini, S., Calandra, S., Tarugi, P., Catapano, A., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Noto, D., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalu', A., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Sun, V., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Casula, M., Chiodo, L., Manzato, E., Tragni, E., and Colombo, Emanuela

Subjects
0301 basic medicine, Apolipoprotein E, Candidate gene, Settore MED/09 - Medicina Interna, Databases, Factual, Apolipoprotein B, DNA Mutational Analysis, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Compound heterozygosity, PCSK9, 0302 clinical medicine, Risk Factors, Receptors, Genetics, Homozygote, Autosomal dominant trait, Pathogenic variants, General Medicine, Prognosis, APOB, LDLR, Cholesterol, Phenotype, Italy, Autosomal Recessive Hypercholesterolemia, Apolipoprotein B-100, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, Preliminary Data, Genetic Markers, Familial hypercholesterolemiaLDLRPCSK9APOBPathogenic variants, Heterozygote, Biology, Pathogenic variant, LDL, Hyperlipoproteinemia Type II, 03 medical and health sciences, Databases, medicine, Internal Medicine, Humans, Genetic Predisposition to Disease, Factual, Settore MED/13 - ENDOCRINOLOGIA, medicine.disease, Atherosclerosis, 030104 developmental biology, Receptors, LDL, Mutation, biology.protein
Abstract

Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major candidate genes for monogenic hypercholesterolemia (LDLR, APOB, PCSK9, APOE, LDLRAP1, STAP1). Results A total of 213 variants were detected in 1076 subjects. About 90% of them had a pathogenic or likely pathogenic variants. More than 94% of patients carried pathogenic variants in LDLR gene, 27 of which were novel. Pathogenic variants in APOB and PCSK9 were exceedingly rare. We found 4 true homozygotes and 5 putative compound heterozygotes for pathogenic variants in LDLR gene, as well as 5 double heterozygotes for LDLR/APOB pathogenic variants. Two patients were homozygous for pathogenic variants in LDLRAP1 gene resulting in autosomal recessive hypercholesterolemia. One patient was found to be heterozygous for the ApoE variant p.(Leu167del), known to confer an FH phenotype. Conclusions This study shows the molecular characteristics of the FH patients identified in Italy over the last two years. Full phenotypic characterization of these patients and cascade screening of family members is now in progress.

Published
2017

19. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Author

Averna, Maurizio, primary, Cefalù, Angelo B., additional, Casula, Manuela, additional, Noto, Davide, additional, Arca, Marcello, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Catapano, Alberico L., additional, Tarugi, Patrizia, additional, Averna, Maurizio, additional, Catapano, Alberico Luigi, additional, Pellegatta, Fabio, additional, Angelico, Francesco, additional, Bartuli, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Arturo, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Rubba, Paolo, additional, Sabbà, Carlo, additional, Sampietro, Tiziana, additional, Sarzani, Riccardo, additional, Tagliabue, Milena Paola, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Montali, Anna, additional, Fortunato, Giuliana, additional, Grigore, Liliana, additional, Del Ben, Maria, additional, Maranghi, Marianna, additional, Barbagallo, Carlo M., additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Vinci, Pierandrea, additional, D'Addato, Sergio, additional, Galbiati, Stella, additional, Nascimbeni, Fabio, additional, Bucci, Marco, additional, Spagnoli, Walter, additional, Cardolini, Iris, additional, Cervelli, Nazzareno, additional, Emanuela, Colombo, additional, Vinsin, A. Sun, additional, Laviola, Luigi, additional, Bello, Francesca, additional, Chiariello, Giuseppe, additional, Predieri, Barbara, additional, Siepi, Donatella, additional, Saitta, Antonino, additional, Giusti, Betti, additional, Pavanello, Chiara, additional, Lussu, Milena, additional, Prati, Lucia, additional, Banderali, Giuseppe, additional, Balleari, Giulia, additional, Montalcini, Tiziana, additional, Scicali, Roberto, additional, Gentile, Luigi, additional, Gentile, Marco, additional, Suppressa, Patrizia, additional, Sbrana, Francesco, additional, Cocci, Guido, additional, Benso, Andrea, additional, Negri, Emanuele Alberto, additional, Ghirardello, Omar, additional, Lorenzo, Vigo, additional, Zambon, Alberto, additional, Enzo, Bonora, additional, Minicocci, Ilenia, additional, Spina, Rossella, additional, Orlando, Camilla, additional, Di Taranto, Maria Donata, additional, Chiodo, Lorenzo, additional, Garlaschelli, Katia, additional, Manzato, Enzo, additional, and Tragni, Elena, additional

Published
2017
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20. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Author

Pirillo, Angela, primary, Garlaschelli, Katia, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Catapano, Alberico L., additional, Catapano, Alberico Luigi, additional, Pellegatta, Fabio, additional, Angelico, Francesco, additional, Bartuli, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Arturo, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Rubba, Paolo, additional, Sabbà, Carlo, additional, Sampietro, Tiziana, additional, Sarzani, Riccardo, additional, Tagliabue, Milena Paola, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Montali, Anna, additional, Noto, Davide, additional, Fortunato, Giuliana, additional, Grigore, Liliana, additional, Del Ben, Maria, additional, Maranghi, Marianna, additional, Cefalù, A. Baldassarre, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Vinci, Pierandrea, additional, D'Addato, Sergio, additional, Galbiati, Stella, additional, Nascimbeni, Fabio, additional, Bucci, Marco, additional, Spagnoli, Walter, additional, Cardolini, Iris, additional, Cervelli, Nazzareno, additional, Emanuela, Colombo, additional, Sun, Vinsin A., additional, Laviola, Luigi, additional, Bello, Francesca, additional, Chiariello, Giuseppe, additional, Predieri, Barbara, additional, Siepi, Donatella, additional, Saitta, Antonino, additional, Giusti, Betti, additional, Pavanello, Chiara, additional, Lussu, Milena, additional, Prati, Lucia, additional, Banderali, Giuseppe, additional, Balleari, Giulia, additional, Montalcini, Tiziana, additional, Scicali, Roberto, additional, Gentile, Luigi, additional, Gentile, Marco, additional, Suppressa, Patrizia, additional, Sbrana, Francesco, additional, Cocci, Guido, additional, Benso, Andrea, additional, Negri, Emanuele Alberto, additional, Ghirardello, Omar, additional, Lorenzo, Vigo, additional, Zambon, Alberto, additional, Enzo, Bonora, additional, Minicocci, Ilenia, additional, Spina, Rossella, additional, Orlando, Camilla, additional, Di Taranto, Maria Donata, additional, Casula, Manuela, additional, Chiodo, Lorenzo, additional, Manzato, Enzo, additional, and Tragni, Elena, additional

Published
2017
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21. Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

Author

Olmastroni, E., Gazzotti, M., Arca, M., Averna, M., Pirillo, A., Catapano, A. L., Casula, M., Marcello, A., Maurizio, A., Stefano, B., Sebastiano, C., Luigi, C. A., Patrizia, T., Fabio, P., Andrea, B., Giacomo, B., Gianni, B., Luca, B., Katia, B., Claudio, B., Carlo, B. A., Adriana, B., Paolo, C., Francesca, C., Francesco, C., Nadia, C., Maria, D. B., Massimo, F., Claudio, F., Maria, F. A., Andrea, G., Ornella, G., Arcangelo, I., Gabriella, I., Lorenzo, I., Graziana, L., Alessandro, L., Giuseppe, M., Rossella, M., Lorenzo, M., Giuliana, M., Sandro, M., Valerio, P., Cristina, P., Antonio, P., Livia, P., Arturo, P., Francesco, P., Elena, R., Carlo, S., Riccardo, S., Chiara, T., Battista, V. G., Pablo, W. J., Sabina, Z., Grazia, Z. M., Alessia, D. C., Giuliana, F., Rossella, S., Davide, B., Giuseppe, B., Francesco, B., Guglielmo, B., Sandra, B., Patrizia, B., Marco, B., Sabrina, B. P., Elena, C. M., Iris, C., Baldassarre, C. A., Maria, C., Emanuela, C., Giuseppe, C., Laura, C. A., Ada, C., Sergio, D., Vincenzo, D., Giuseppe, D. C., Chiara, D. P., Fabio, F., Marco, G., Omar, G., Betti, G., Davide, G., Liliana, G., Giulia, M., Giancarla, M., Ilenia, M., Simona, M., Tiziana, M., Fabio, N., Alberto, N. E., Chiara, P., Lucia, P., Rita, R. A., Elena, S., Alon, S., Roberto, S., Patrizia, S., Michele, T., Pierandrea, V., Manuela, C., Enzo, M., Elena, T., Veronic, Z., Olmastroni, Elena, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Pirillo, Angela, Catapano, Alberico Luigi, Casula, Manuela, Stefano, Bertolini, Sebastiano, Calandra, Patrizia, Tarugi, Fabio, Pellegatta, Andrea, Bartuli, Andrea, Benso, Giacomo, Biasucci, Gianni, Biolo, Luca, Bonanni, Katia, Bonomo, Claudio, Borghi, Antonio Carlo Bossi, Adriana, Branchi, Paolo, Calabrò, Francesca, Carubbi, Francesco, Cipollone, Nadia, Citroni, Maria Del Ben, Massimo, Federici, Claudio, Ferri, Anna Maria Fiorenza, Andrea, Giaccari, Ornella, Guardamagna, Arcangelo, Iannuzzi, Iannuzzo, Gabriella, Lorenzo, Iughetti, Graziana, Lupattelli, Alessandro, Lupi, Giuseppe, Mandraffino, Rossella, Marcucci, Lorenzo, Maroni, Giuliana, Mombelli, Sandro, Muntoni, Valerio, Pecchioli, Cristina, Pederiva, Antonio, Pipolo, Livia, Pisciotta, Antonio, Pujia, Francesco, Purrello, Elena, Repetti, Carlo, Sabbà, Riccardo, Sarzani, Chiara, Trenti, Giovanni Battista Vigna, Josè Pablo Werba, Sabina, Zambon, Maria Grazia Zenti, Alessia Di Costanzo, Fortunato, Giuliana, Rossella, Spina, Davide, Baldera, Giuseppe, Banderali, Francesco, Baratta, Guglielmo, Beccuti, Sandra, Bertocco, Patrizia, Bruzzi, Marco, Bucci, Paola Sabrina Buonuomo, Maria Elena Capra, Iris, Cardolini, Angelo Baldassarre Cefalù, Maria, Cinquegrani, Emanuela, Colombo, Giuseppe, Covetti, Anna Laura Cremonini, Ada, Cutolo, Sergio, D'Addato, Vincenzo, D'Ambrosio, Giuseppe De Corrado, Chiara Di Pentima, Fabio, Fimiani, Gentile, Marco, Omar, Ghirardello, Betti, Giusti, Davide, Grassi, Liliana, Grigore, Giulia, Massini, Giancarla, Meregalli, Ilenia, Minicocci, Simona, Moffa, Tiziana, Montalcini, Fabio, Nascimbeni, Emanuele Alberto Negri, Chiara, Pavanello, Lucia, Prati, Anna Rita Roscini, Elena, Sani, Alon, Schaffer, Roberto, Scicali, Patrizia, Suppressa, Michele, Tedeschi, Pierandrea, Vinci, Enzo, Manzato, Elena, Tragni, Veronica, Zampoler, and Bertolini Stefano, Calandra Sebastiano, Tarugi Patrizia, Pellegatta Fabio, Bartuli Andrea, Benso Andrea, Biasucci Giacomo, Biolo Gianni, Bonanni Luca, Bonomo Katia, Borghi Claudio, Bossi Antonio Carlo, Branchi Adriana, Calabrò Paolo, Carubbi Francesca, Cipollone Francesco, Citroni Nadia, Del Ben Maria, Federici Massimo, Ferri Claudio, Fiorenza Anna Maria, Giaccari Andrea, Guardamagna Ornella, Iannuzzi Arcangelo, Iannuzzo Gabriella, Iughetti Lorenzo, Lupattelli Graziana, Lupi Alessandro, Mandraffino Giuseppe, Marcucci Rossella, Maroni Lorenzo, Mombelli Giuliana, Muntoni Sandro, Pecchioli Valerio, Pederiva Cristina, Pipolo Antonio, Pisciotta Livia, Pujia Arturo, Purrello Francesco, Repetti Elena, Sabbà Carlo, Sarzani Riccardo, Trenti Chiara, Vigna Giovanni Battista, Werba Josè Pablo, Zambon Sabina, Zenti Maria Grazia. Di Costanzo Alessia, Fortunato Giuliana, Spina Rossella, Baldera Davide, Banderali Giuseppe, Baratta Francesco, Beccuti Guglielmo, Bertocco Sandra, Bruzzi Patrizia, Bucci Marco, Buonuomo Paola Sabrina, Capra Maria Elena, Cardolini Iris, Cefalù Angelo Baldassare, Cinquegrani Maria, Colombo Emanuela, Covetti Giuseppe, Cremonini Anna Laura, Cutolo Ada, D’Addato Sergio, D’Ambrosio Vincenzo, De Corrado Giuseppe, Di Pentima Chiara, Fimiani Fabio, Gentile Marco, Ghirardello Omar, Giusti Betti, Grassi Davide, Grigore Liliana, Massini Giulia, Meregalli Giancarla, Minicocci Ilenia, Moffa Simona, Montalcini Tiziana, Nascimbeni Fabio, Negri Emanuele Alberto, Pavanello Chiara, Prati Lucia, Roscini Anna Rita, Sani Elena, Schaffer Alon, Scicali Roberto, Suppressa Patrizia, Tedeschi Michele, Vinci Pierandrea, Manzato Enzo, Tragni Elena, Zampoleri Veronica

Subjects
Male, Adult, Multifactorial Inheritance, Settore MED/09 - Medicina Interna, familial hypercholesterolemia, molecular diagnosis, polygenic risk score, Cholesterol, LDL, Female, Humans, Middle Aged, Mutation, Gene Regulatory Networks, Hyperlipoproteinemia Type II, LDL, Cholesterol, molecular diagnosi
Abstract

Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) were evaluated. Patients who were FH-mutation negative had lower mean levels of pretreatment LDL-C than patients who were FH-mutation positive (217.14±55.49 versus 270.52±68.59 mg/dL, P

Published
2022

22. TOCIVID-19 - A multicenter study on the efficacy and tolerability of tocilizumab in the treatment of patients with COVID-19 pneumonia. Study protocol

Author

Francesco Perrone, Luigi Atripaldi, Gerardo Botti, Marco Cascella, Carlo Salvarani, Cristina Mussini, Marco Massari, Giovanni Dolci, Roberto Parrella, Nicola Facciolongo, Paolo Chiodini, Paolo A. Ascierto, Massimo Costantini, Patrizia Popoli, Anna Maria Marata, Maria Carmela Piccirillo, Fiorentino Fraganza, Ciro Gallo, Emanuele Alberto Negri, Vincenzo Montesarchio, Laura Arenare, Piccirillo, Maria Carmela, Ascierto, Paolo, Atripaldi, Luigi, Cascella, Marco, Costantini, Massimo, Dolci, Giovanni, Facciolongo, Nicola, Fraganza, Fiorentino, Marata, Annamaria, Massari, Marco, Montesarchio, Vincenzo, Mussini, Cristina, Negri, Emanuele Alberto, Parrella, Roberto, Popoli, Patrizia, Botti, Gerardo, Arenare, Laura, Chiodini, Paolo, Gallo, Ciro, Salvarani, Carlo, and Perrone, Francesco

Subjects
Adult, Male, medicine.medical_specialty, Pneumonia, Viral, Phases of clinical research, Antibodies, Monoclonal, Humanized, Article, Drug Administration Schedule, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tocilizumab, Clinical Trials, Phase II as Topic, Internal medicine, medicine, Humans, Immunologic Factors, Multicenter Studies as Topic, Pharmacology (medical), 030212 general & internal medicine, COVID-19 pneumonia, Prospective cohort study, 030505 public health, business.industry, COVID-19, Phase 2 study, General Medicine, medicine.disease, Receptors, Interleukin-6, Pneumonia, Treatment Outcome, chemistry, Tolerability, Cohort, Administration, Intravenous, Female, Drug Monitoring, 0305 other medical science, business, Cytokine storm, Complication, Cytokine Release Syndrome
Abstract

Background Pneumonia is the most frequent complication of COVID-19, due to an aberrant host immune response that is associated with an acute respiratory distress syndrome, and, in most critical patients, with a “cytokine storm”. IL-6 might play a key role in the cytokine storm and might be a potential target to treat severe and critical COVID-19. Tocilizumab is a recombinant humanized monoclonal antibody, directed against IL-6 receptor. Methods This multicentre study project includes a single-arm phase 2 study and a further parallel cohort, enrolling hospitalized patients with COVID-19 pneumonia and oxygen saturation at rest in ambient air ≤93% or requiring respiratory support. Patients receive tocilizumab 8 mg/kg (up to 800 mg) as one intravenous administration. A second administration (same dose) after 12 h is optional. Two-week and one-month lethality rates are the co-primary endpoints. Sample size planned for the phase 2 study is 330 patients. The parallel cohort will include patients who cannot enter the phase 2 study because being intubated from more than 24 h, or having already received tocilizumab, or the phase 2 study has reached sample size. Primary analysis will include patients enrolled in the phase 2 study. Results of the primary analysis will be validated in the prospective cohort of patients consecutively registered after phase 2 closure from March 20 to March 24, who were potentially eligible for the phase 2 study. Conclusion This trial aims to verify the safety and efficacy of tocilizumab in the Italian population with COVID-19 pneumonia and respiratory impairment. EudraCT Number: 2020–001110-38; Clinicaltrials.gov ID NCT04317092

Published
2020
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23. Acute-phase reactants during tocilizumab therapy for severe COVID-19 pneumonia.

Author

Cassone G, Dolci G, Besutti G, Muratore F, Bajocchi G, Mancuso P, Catanoso M, Spaggiari L, Galli E, Palermo A, Pipitone N, Croci S, Massari M, Facciolongo N, Menzella F, Negri EA, Zerbini A, Belloni L, Cimino L, Teopompi E, Sampaolesi F, Salsi P, Costantini M, Giorgi Rossi P, Aldigeri R, and Salvarani C

Subjects
Acute-Phase Proteins, Antibodies, Monoclonal, Humanized, Humans, Pandemics, Prospective Studies, SARS-CoV-2, Betacoronavirus, Coronavirus Infections, Pneumonia, Viral, COVID-19 Drug Treatment
Abstract

Objectives: To identify predictors of clinical improvement and intubation/death in tocilizumab-treated severe COVID19, focusing on IL6 and CRP longitudinal monitoring., Methods: 173 consecutive patients with severe COVID-19 pneumonia receiving tocilizumab in Reggio Emilia province Hospitals between 11 March and 3 June 2020 were enrolled in a prospective cohort study. Clinical improvement was defined as status improvement on a six-category ordinal scale or discharge from the hospital, whichever came first. A composite outcome of intubation/death was also evaluated. CRP and IL-6 levels were determined before TCZ administration (T0) and after 3 (T3), and 7 (T7) days., Results: At multivariate analysis T0 and T3 CRP levels were negatively associated with clinical improvement (OR 0.13, CI 0.03-0.55 and OR 0.11, CI 0.0-0.46) (p=0.006 and p=0.003) and positively associated with intubation/death (OR 17.66, CI 2.47-126.14 and OR 5.34, CI: 1.49-19.12) (p=0.01 and p=0.004). No significant associations with IL-6 values were observed. General linear model analyses for repeated measures showed significantly different trends for CRP from day 3 to day 7 between patients who improved and those who did not, and between patients who were intubated or died and those who were not (p<0.0001 for both). ROC analysis identified a baseline CRP level of 15.8 mg/dl as the best cut-off to predict intubation/death (AUC = 0.711, sensitivity = 0.67, specificity = 0.71)., Conclusions: CRP serial measurements in the first week of TCZ therapy are useful in identifying patients developing poor outcomes.

Published
2020

24. Severe Milk-Alkali Syndrome in a Patient with Hypoparathyroidism Associated with 1,25(OH)2D, Hydrochlorothiazide and Anthranoid Laxative Consumption.

Author

Morini L, Donelli D, Santi R, Trenti C, Battaglino G, Iannuzzella F, and Negri EA

Abstract

Background: Milk-alkali syndrome is a life-threatening condition defined by the triad of hypercalcaemia, metabolic alkalosis and acute renal failure, and is associated with consumption of calcium and absorbable alkali., Methods: We report the case of a patient admitted to a step-down unit of a large hospital in Italy., Results: The patient was a 59-year-old woman with hypoparathyroidism and mild chronic kidney insufficiency, treated for a preceding episode of hypocalcaemia with high doses of calcitriol and calcium carbonate, who was also taking hydrochlorothiazide and unreported herbal anthranoid laxatives. The patient was admitted to hospital with severe hypercalcaemia, severe metabolic alkalosis and acute renal insufficiency. The patient was successfully treated with urgent dialysis, loop diuretics and calcitonin administration., Conclusions: This case underlines the need for caution when treating patients with impaired calcium metabolism regulation, and suggests that herbal anthranoid laxatives might act as triggers for milk-alkali syndrome., Learning Points: Patients with hypoparathyroidism are more prone to develop milk-alkali syndrome.Patients need careful follow-up and review of their need for calcium supplements.Non-prescription and complementary medicines can aggravate hypercalcaemia., Competing Interests: Conflicts of Interests: The Authors declare that there are no competing interests.

Published
2017
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