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4. Italian cystic fibrosis registry (ICFR): Report 2017-2018

Author

Campagna, G., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Fornaro, G. P., Taruscio, D., Salvatore, M., Angiolillo, A., Baldo, E., Battistini, F., Bernardi, M. A., Bertasi, S., Bignamini, E., Bisogno, A., Braggion, C., Caloiero, M., Cannata, L., Carnicella, A., Cellini, C., Ciciretti, M. A., Cimino, G., Cipolli, M., Cirilli, N., Collura, M., Colombo, C., Sabatino, M. D., Donati, V., Fabrizi, B., Ficili, F., Francalanci, M., Iansa, P., Laezza, C., Leonardi, S., Lucanto, M. C., Lucidi, V., Macchiaroli, A. M., Manca, A., Maschio, M., Mascotto, D., Mencarini, V., Messore, B., Minicucci, L., Moretti, P., Negri, A., Pantano, S., Palladino, N., Pintani, E., Pisano, G., Pisi, G., Pizzamiglio, G., Quattromano, E., Raia, V., Redemagni, A., Ros, M., Rotolo, N., Rottigni, S., Scarlata, A., Spaggiari, C., Taccetti, G., Vassanelli, C., and Vitullo, P.

Subjects
Adult, Male, CF referral centre, Registry, Adolescent, Cystic Fibrosis, [delta]F508, Cystic Fibrosis Transmembrane Conductance Regulator, FEV, BMI, Young Adult, CF support centre, Italy, Cystic fibrosis, Child, Female, Humans, Registries, Lung Transplantation
Published
2021

5. Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society

Author

Bevivino, Annamaria, Coiana, Alessandra, Fogazzi, Annalisa, Timelli, Fabiana, Signorini, Sandra, Lucarelli, Marco, Morelli, Patrizia, Padoan, Rita, Giordani, Barbara, Amato, Annalisa, Majo, Fabio, Ferrari, Gianluca, Quattrucci, Serena, Minicucci, Laura, Floridia, Giovanna, Fornaro, Gianna Puppo, Taruscio, Domenica, Salvatore, Marco, Seia, Manuela, Pierandrei, Silvia, Blaconà, Giovanna, Salvati, Valentina, Sette, Giovanni, Cimino, Giuseppe, Sangiuolo, Federica, Eramo, Adriana, Collura, Mirella, Parisi, Elisa, Ferlisi, Annalisa, Traverso, Gabriella, Bertolino, Marcella, Termini, Lisa, Orlando, Maria A., Di Girgenti, Caterina, Pavone, Valeria, Calamia, Maria A., Silvestro, Maria G., Piparo, Caterina Lo, Ficili, Francesca, Colombo, Carla, Tullis, Elizabeth, Davies, Jane C., Mckee, Charlotte, Desouza, Cynthia, Waltz, David, Savage, Jessica, Fisher, Marc, Shilling, Rebecca, Moskowitz, Sam, Robertson, Sarah, Tian, Simon, Taylor-Cousar, Jennifer L., Rowe, Steven M., Beccia, Elisa, Carbone, Annalucia, Favia, Maria, Castellani, Stefano, Angiolillo, Antonella, Casavola, Valeria, Conese, Massimo, Cesana, Bruno M., Falchetti, Diego, Battistini, Fiorella, Bignamini, Elisabetta, Braggion, Cesare, Cirilli, Natalia, Lucanto, Maria C., Lucidi, Vincenzina, Manca, Antonio, Raia, Valeria, Rotolo, Novella, Salvatore, Donatello, Volpi, Sonia, Nazzari, Erica, Guarise, Riccardo, Mileto, Palmiro, Garbarino, Francesca, Alicandro, Gianfranco, Battezzati, Alberto, Di Lullo, Antonella M., Comegna, Marika, Amato, Felice, Iacotucci, Paola, Carnovale, Vincenzo, Cantone, Elena, Iengo, Maurizio, Castaldo, Giuseppe, Orlando, Claudio, Casale, Alida, Sepe, Angela, De Gregorio, Fabiola, De Matteo, Antonia, Castaldo, Alice, Cimbalo, Chiara, Tosco, Antonella, Savi, Daniela, Mordenti, Michela, Bonci, Enea, Troiani, Patrizia, D’Alù, Viviana, Rossi, Paolo, Varchetta, Monica, Perelli, Tamara, Bertasi, Serenella, Palange, Paolo, Tardino, Lucia, Parisi, Giuseppe F., Portale, Anna, Franzonello, Chiara, Papale, Maria, Leonardi, Salvatore, Pennisi, Francesca, Bruno, Sabina M., Licciardello, Giulia, Ferraguti, Giampiero, Sterrantino, Manuela, Testino, Giancarlo, Buzzetti, Roberto, Surace, Cecilia, Sofia, Valentina M., Ullmann, Nicola, Novelli, Antonio, Angioni, Adriano, Liguori, Renato, Manzoni, Francesca, Di Palma, Chiara, Maietta, Sabrina, Zarrilli, Federica, Terlizzi, Vito, Alghisi, Federico, Tuccio, Giuseppe, Tradati, Valentina, di Stefano, Eliana, Dato, Patrizia, Sciarrabone, Maria G., Fondacaro, Carmela, Cresta, Federico, Baglioni, Valentina, Garuti, Silvia, Buffoni, Isabella, Landi, Francesca, Casciaro, Rosaria, Girelli, Daniela, Teri, Antonio, Sottotetti, Samantha, Biffi, Arianna, Vignati, Chiara, D’Accico, Monica, Maraschini, Anna, Arghittu, Milena, Pizzamiglio, Giovanna, Cariani, Elisa, Dolce, Daniela, Ravenni, Novella, Campana, Silvia, Camera, Erica, Castellani, Carlo, Taccetti, Giovanni, Calderone, Eleonora, Bandettini, Roberto, Innocenti, Chiara Degli, Castellani, Chiara, Masi, Eleonora, Cavicchi, Maria Chiara, Ferrari, Beatrice, Pezzotta, Ramona, Poli, Piercarlo, Messali, Serena, Timpano, Silvana, Scaltriti, Erika, Pongolini, Stefano, Fiorentini, Simona, Bresci, Silvia, Corsi, Lorenzo, Borchi, Beatrice, Cavallo, Annalisa, Bartalesi, Filippo, Pistolesi, Massimo, Bartoloni, Alessandro, Arcoleo, Federica, Pensabene, Tiziana, Bacci, Giovanni, Armanini, Federica, Fiscarelli, Ersilia V., Segata, Nicola, Mengoni, Alessio, Di Toppa, Maria V., Popa, Nicoleta, Felicetti, Francesco, Graziano, Sonia, Ciprandi, Riccardo, Pescini, Rita, Graffigna, Guendalina, Barello, Serena, Catastini, Paola, De Masi, Salvatore, Braggion, C., Guarnuto, Lucia, Di Liberti, Emanuela, Patti, Valentina, Castellazzi, Massimo Luca, Daccò, Valeria, Claut, Laura, Giuliari, Matteo, Vicentini, Luana, Tilotta, Fausto, Paciaroni, Antonella, Sala, Sabino Della, Guerzoni, Cristina, Andreatta, Elisa, Dinnella, Grazia, Granata, Orazia M., Aronica, Tommaso S., Crapisi, Mimì, Fogazza, Donatella, Alessi, Luca, Mulè, Flavia, Vitaliti, Marcello, Maresi, Mariarosaria, Catzola, Andrea, Salvadori, Laura, Colangelo, Carmela, Marsicovetere, Giovanni, D’Andria, Michele, Passarella, Domenica, Genovese, Carmela, Orlando, Mari A., Barrale, Stefania, Bonaccorso, Maria R., and D’Arpa, Annalisa

Subjects
lcsh:RJ1-570, lcsh:Pediatrics, Meeting Abstracts
Published
2018
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18. The role of functional studies in the diagnosis and treatment of Cystic Fibrosis: comparing the case of the G970D and G970R mutation

Author

Amato F, Scudieri P, Musante I, Tomati V, Caci E, Comegna M, Maietta S, Manzoni F, Di Lullo AM, De Wachter E, Vanderhelst Eef, Terlizzi V, Braggion C, Castaldo G, Galietta LJV., SIFC, Amato, F, Scudieri, P, Musante, I, Tomati, V, Caci, E, Comegna, M, Maietta, S, Manzoni, F, DI LULLO, ANTONELLA MIRIAM, De Wachter, E, Vanderhelst, Eef, Terlizzi, V, Braggion, C, Castaldo, G, and Galietta, Ljv.

Subjects
Cystic Fibrosis, mutations
Abstract

More than 2000 CFTR mutations have been identified so far, but only few of them are clearly defined as CF-causing based on functional studies. We present a case of a rare mutation, the G970D, that has been shown using transfected cDNA in HEK293 cells to be sensitive to Ivacaftor. However, a similar missense mutant, G970R in the same codon, was found to be sensitive to potentiators in vitro, but not in vivo due to splicing alteration. Thus, we used several basic research methodologies to evaluate if this patient was eligible for treatment with Ivacaftor. Materials and methods 1) nasal epithelial cells (HNEC) were collected from patients to evaluate the effect of mutations on splicing by RT-PCR assay, 2) HNEC were expanded and polarized for evaluation of CFTR function by Ussing chamber system 3) the use of a minigene system was used to confirm in vitro the splicing pattern. Results Firstly, we used in silico tool to predict the physio-pathological effect of mutations, confirming that the G970R completely abolishes the canonical 5’ splice donor site of exon 17 resulting in a likely retention of intron 17. On the contrary, the G970D predicted not to affect splicing. This prediction was confirmed by RT-PCR analysis of mRNA extracted from HNEC cells and from in vitro minigene assay. Finally, the functional behavior of CFTR, from HNEC bearing the G970D, was evaluated by short-circuit recordings. The cells responded to cAMP agonist with an increase in trans-epithelial current and this current was nearly doubled by stimulation with Ivacaftor. Moreover, in cells that were also incubated with VX-809 (1 μM) for 24 hours, CFTR function was significantly enhanced, with a proportional increase of both cAMP- and potentiator-dependent responses. Conclusions Our results show that the G970R actually disrupts the RNA splicing, thus leading to a severely altered CFTR protein. This event explains the lack of success of treatment with potentiator. In contrast, the G970D does not alter RNA splicing. The resulting G970D mutation affects the gating and trafficking of the CFTR channel that can be targeted with VX-770 and VX-809. These results represent the evidence needed to justify the treatment of the patient with these drugs. Finally, our study is an interesting example of the precision medicine approach by emphasizing the role of appropriate in vitro studies, in this case focused on RNA analysis, to fully characterize the effects of rare CFTR mutations. We thank Telethon Foundation (TMLGCBX16TT) and Ministero della Salute (Rome, Italy) L.548/93 for the regional research funding quote 2008-2015.

Published
2018

26. Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016

Author

Giordani, B., Amato, A., Majo, F., Ferrari, G., Quattrucci, S., Minicucci, L., Padoan, R., Floridia, G., Salvatore, D., Carnovale, V., Puppo Fornaro, G., Taruscio, D., Salvatore, M., Albera, C, Amato, A, Angiolillo, A, Baldo, E, Battistini, F, Bena, C, Bernardi, Mg, Bertasi, S, Bignamini, E, Bisogno, A, Braggion, C, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, Ma, Cipolli, M, Cirilli, N, Colombo, C, Cucchiara, S, Di Sabatino, M, Di Stefano, E, Fabrizi, B, Ferrari, G, Ficili, F, Floridia, G, Francalanci, M, Gagliardini, R, Giordani, B, Iansa, P, Laezza, C, Leonardi, S, Lucanto, Mc, Lucidi, V, Macchiaroli, Am, Magazzù, G, Majo, F, Manca, A, Maschio, M, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Negri, A, Padoan, R, Palladino, N, Pintani, E, Pisano, G, Pisi, G, Pizzamiglio, G, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Rotolo, N, Salvatore, D, Salvatore, M, Spaggiari, C, Taruscio, D, Tonelli, T, Tuccio, G, Vassanelli, C, Vitullo, P, and Zavataro L, .

Published
2019

30. Italian Cystic Fibrosis Registry. Report 2011-2014

Author

Barbara, Giordani, Annalisa, Amato, Fabio, Majo, Gianluca, Ferrari, Serena, Quattrucci, Laura, Minicucci, Rita, Padoan, Giovanna, Floridia, Gianna Puppo Fornaro, Domenica, Taruscio, Marco, Salvatore, Gruppo di lavoro RIFC, Albera, C, Amato, A, Angiolillo, A, Assael, Bm, Baldo, E, Battistini, F, Bena, C, Bernardi, Mg, Bertasi, S, Bignamini, E, Bisogno, A, Braggion, C, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, Ma, Cirilli, N, Collura, M, Colombo, C, Cucchiara, S, Di Sabatino, M, Di Stefano, E, Ferrari, G, Ficili, F, Floridia, G, Francalanci, M, Gagliardini, R, Giordani, B, Iansa, P, Laezza, C, La Rosa, M, Leonardi, S, Lucanto, Mc, Lucidi, V, Macchiaroli, Am, Magazzù, G, Majo, F, Manca, A, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Negri, A, Padoan, R, Palladino, N, Pintani, E, Pisano, G, Pisi, G, Pizzamiglio, G, Poli, F, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Rotolo, N, Salvatore, D, Salvatore, M, Spaggiari, C, Taruscio, D, Tonelli, T, Tuccio, G, and Zavataro, L.

Subjects
Registry, Cystic Fibrosis, Italy, Cystic Fibrosis, Registry, Italy
Published
2018

31. P254 Ivacaftor treatment in patients with severe lung disease carrying CFTR mutations with residual function

Author

Salvatore, D., primary, Braggion, C., additional, Calderazzo, M.A., additional, Cresta, F., additional, Majo, F., additional, Messore, B., additional, Pisi, G., additional, Pizzamiglio, G., additional, Biglia, C., additional, Botti, M., additional, Caloiero, M., additional, Civati, E., additional, Colangelo, C., additional, De Gregorio, F., additional, Francalanci, M., additional, Longo, F., additional, and Terlizzi, V., additional

Published
2019
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34. IPD2.07 Retrospective observational study in cystic fibrosis patients homozygous for F508del treated with lumacaftor/ivacaftor in a compassionate use programme

Author

Iacotucci, P., primary, Carnovale, V., additional, Blasi, F., additional, Braggion, C., additional, Castellani, C., additional, Cipolli, M., additional, Collura, M., additional, Colombo, C., additional, Lucidi, V., additional, Minicucci, L., additional, Manca, A., additional, Magazzù, G., additional, and Ferrara, N., additional

Published
2018
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42. Testing Two Different Doses of Tiotropium Respimat® in Cystic Fibrosis: Phase 2 Randomized Trial Results

Author

Bradley, Jm, Koker, P, Deng, Q, Moroni Zentgraf, P, Ratjen, F, Geller, De, Elborn, Js, Clements, B, Greville, H, Middleton, P, Serisier, D, van Asperen, P, Dupont, L, Knoop, C, Malfroot, A, Belleguic, C, Chiron, R, Derelle, J, Dominique, S, Dusser, D, Ginies, Jl, Guillot, M, Horeau-Langlard, D, Le Bourgeois, M, Leroy, S, Marguet, C, Munck, A, Pautard, Jc, Reix, P, Uffredi, Ml, Ballmann, M, Bargon, J, Fischer, R, Herth, F, Heuer, He, Griese, M, Kamin, W, Kohlhäufl, M, Nährlich, L, Riethmüller, J, Sorichter, S, Wagner, T, Bennett, L, Crawford, M, Crossley, J, Derry, D, Doull, I, Elborn, J, Everard, M, Groggins, C, Johnson, M, Lee, T, Rayner, R, Reid, A, Smyth, A, Southern, K, Thomas, D, Walshaw, M, Whitehouse, J, Braggion, C, De Rose, V, Gagliardini, R, Minicucci, L, Reijers, M, Tiddens, Ha, O'Carroll, M, Wong, J, Barreto, C, Cardim, P, Loureiro, M, Rocha, H, Vaz, Ml, Asherova, I, Chepurnaya, M, Chuchalin, Ag, Ilkovich, M, Kapranov, N, Neretina, A, Orlov, A, Simonova, O, Ahrens, R, Anbar, R, Biller, J, Carveth, H, Daines, C, Fiel, S, Flume, P, Froh, D, 3rd, Harris J., Howenstine, M, Millard, Dl, Nasr, S, Parker, H, Pian, M, Royall, J, Sabogal, C, Salathe, M, Sannuti, A, Schaeffer, D, Strausbaugh, S, Toder, D, Reyes, S, Whittaker, L, and Zanni, R.

Subjects
Male, Respimat, Cystic Fibrosis, Pulmonology, lcsh:Medicine, Cystic fibrosis, Pediatrics, Pulmonary function testing, law.invention, Clinical trials, Randomized controlled trial, law, Bronchodilator, Forced Expiratory Volume, lcsh:Science, Child, Medicine(all), Multidisciplinary, Agricultural and Biological Sciences(all), Area under the curve, Tiotropium bromide, Respiratory Function Tests, Research Design, Anesthesia, Female, Genetic Dominance, Phase II clinical investigation, medicine.drug, Research Article, Adult, medicine.medical_specialty, Adolescent, General Science & Technology, medicine.drug_class, Clinical Research Design, Pediatric Pulmonology, Scopolamine Derivatives, Placebo, Research and Analysis Methods, Young Adult, Double-Blind Method, MD Multidisciplinary, Administration, Inhalation, medicine, Genetics, Humans, Tiotropium Bromide, Medicine and health sciences, Autosomal Recessive Traits, business.industry, Biochemistry, Genetics and Molecular Biology(all), lcsh:R, Biology and Life Sciences, Human Genetics, medicine.disease, Fibrosis, respiratory tract diseases, Clinical medicine, Physical therapy, Tiotropium Cystic Fibrosis Study Group, lcsh:Q, business, Developmental Biology
Abstract

Background Tiotropium is a once-daily, long-acting anticholinergic bronchodilator with the potential to alleviate airway obstruction in cystic fibrosis. Our objective was to evaluate the efficacy and safety of 2.5 and 5 µg once-daily tiotropium delivered via the Respimat Soft Mist Inhaler vs. placebo in people with cystic fibrosis. Methods This phase 2, 12-week, randomized, double-blind, placebo-controlled parallel-group study of tiotropium Respimat as add-on to usual cystic fibrosis maintenance therapy included people with cystic fibrosis with pre-bronchodilator forced expiratory volume in 1 second (FEV1) ≥25% predicted. Co-primary efficacy end points were change from baseline in percent-predicted FEV1 area under the curve from 0 to 4 hours (FEV1 AUC0–4h), and trough FEV1 at the end of week 12. Findings A total of 510 subjects with cystic fibrosis aged 5–69 years were randomized. Both doses of tiotropium resulted in significant improvement compared with placebo in the co-primary efficacy end points at the end of week 12 (change from baseline in percent-predicted FEV1 AUC0–4h: 2.5 µg: 2.94%, 95% confidence interval 1.19–4.70, p = 0.001; 5 µg: 3.39%, 95% confidence interval 1.67–5.12, p = 0.0001; in percent-predicted trough FEV1∶2.5 µg: 2.24%, p = 0.2; 5 µg: 2.22%, p = 0.02). There was a greater benefit with tiotropium 5 vs. 2.5 µg. No treatment-related adverse events or unexpected safety findings were observed in patients taking tiotropium. Conclusions Tiotropium significantly improved lung function in people with cystic fibrosis. The improvement was greater with the higher dose than the lower dose, with no difference in adverse events. Trial Registration ClinicalTrials.gov NCT00737100 EudraCT 2008-001156-43.

Published
2014
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43. 30 Effects of ivacaftor in cystic fibrosis patients carrying a non-G551D gating mutation with severe lung disease

Author

Iacotucci, P., primary, Salvatore, D., additional, Carnovale, V., additional, Braggion, C., additional, Castellani, C., additional, Cimino, G., additional, Colangelo, C., additional, Francalanci, M., additional, Grisorio, F.R., additional, Leonetti, G., additional, Lucidi, V., additional, Manca, A., additional, Passiu, M., additional, Quattrucci, S., additional, Vitullo, P., additional, and Ferrara, N., additional

Published
2016
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46. National scientific associations should have a key role in adapting and implementing standard of care guidelines in European countries

Author

BRAGGION C, ALATRI F, CONESE M, FESTINI F, GAGLIARDINI R, SEIA M, TACCETTI G, EXECUTIVE COMMITTEE OF THE ITALIAN CYSTIC FIBROSIS SOCIETY, RAIA, VALERIA, Braggion, C, Alatri, F, Conese, M, Festini, F, Gagliardini, R, Raia, Valeria, Seia, M, Taccetti, G, and EXECUTIVE COMMITTEE OF THE ITALIAN CYSTIC FIBROSIS, Society

Abstract

Braggion C, Alatri F, Conese M, Festini F, Gagliardini R, Raia V, Seia M, Taccetti G; Executive Committee of the Italian Cystic Fibrosis Society. Related Articles, Links National scientific associations should have a key role in adapting and implementing standard of care guidelines in European countries. J Cyst Fibros. 2005 Dec;4(4):271-2. Epub 2005 Oct 25. No abstract available.

Published
2005

50. A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients Clin Chem Lab Med. 2011 Jan;49(1):49-54

Author

Crovella, S, Segat, L, Amato, A, Athanasakis, E, Bezzerri, V, Braggion, C, Casciaro, R, Castaldo, G, Colombo, C, Covone, Ae, DE ROSE, V, Gagliardini, R, Lanzara, C, Minicucci, Laura, Morgutti, M, Nicolis, E, Pardo, F, Quattrucci, S, Raia, V, Ravazzolo, Roberto, Seia, M, Stanzial, V, Termini, L, Zazzeron, L, Cabrini, G, and Gasparini, P.

Published
2011

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