11 results on '"Pasquino, B."'
Search Results
2. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
- Author
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Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, and Barbetti F
- Subjects
- DNA Mutational Analysis, Diabetes Mellitus, Type 1 genetics, Female, Humans, Infant, Infant, Newborn, Italy, Male, Diabetes Mellitus genetics, Mutation, Potassium Channels, Inwardly Rectifying genetics
- Abstract
Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase (GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM patients. Recently, heterozygous activating mutations of KCNJ11, encoding Kir6.2, the pore forming subunit of the ATP-dependent potassium (K(ATP)) channel of the pancreatic beta-cell, were found in patients with PNDM. Closure of the K(ATP) channel exerts a pivotal role in insulin secretion by modifying the resting membrane potential that leads to insulin exocytosis. We screened the KCNJ11 gene in 12 Italian patients with PNDM (onset within 3 months from birth) and in six patients with non-autoimmune, insulin-requiring diabetes diagnosed during the first year of life. Five different heterozygous mutations were identified: c.149G>C (p.R50P), c.175G>A (p.V59M), c.509A>G (p.K170R), c.510G>C (p.K170N), and c.601C>T (p.R201C) in eight patients with diabetes diagnosed between day 3 and 182. Mutations at Arg50 and Lys170 residues are novel. Four patients also presented with motor and/or developmental delay as previously reported. We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay. Permanent diabetes of non autoimmune origin can present up to 6 months from birth in individuals with KCNJ11 and EIF2AK3 mutations. Therefore, we suggest that the acronym PNDM be replaced with the more comprehensive permanent diabetes mellitus of infancy (PDMI), linking it to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion between patients with early-onset, autoimmune type 1 diabetes., ((c) 2004 Wiley-Liss, Inc.)
- Published
- 2005
- Full Text
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3. Continuous Subcutaneous Insulin Infusion in Italy: Third National Survey
- Author
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Bruttomesso D., Laviola L., Lepore G., Bonfanti R., Bozzetto L., Corsi A., Di Blasi V., Girelli A., Grassi G., Iafusco D., Rabbone I., Schiaffini R., Montani V., Colleluori P., Paciotti V., Alfidi P., Grosso J., Tumini S., Cipriano P., Vitacolonna E., Di Vieste G., Minnucci A., Antenucci D., La Penna G., Taraborrelli M., Macerala B., Citro G., De Morelli G., Gnasso A., Irace C., Citriniti F., Lazzaro N., Bruzzese M., Mammi F., De Berardinis F., Santoro E., Corigliano G., Corigliano M., Parillo M., Schettino M., Fresa R., Annuzzi G., Bassi V., Santinelli C., Buono P., Mozzillo E., De Feo E., Esposito K., Petrizzo M., Foglia A., Gatti A., Gentile S., Guarino G., Zanfardino A., Lambiase C., Vitale A., Zucchini S., Maltoni G., Forlani G., Moscatiello S., Suprani T., Bensa M., Tomasi F., Monesi M., Nizzoli M., Acquati S., Chierici G., Milli B., Iughetti L., Predieri B., Cavani R., Romano S., Manicardi V., Michelini M., Cimicchi M. C., Ugolotti D., Zavaroni I., Dei Cas A., Dall'Aglio E., Papi M., Tardio S. M., Calderini M. C., Riboni S., D'Amato L., Zavaroni D., Gastaldi L., Di Bartolo P., Pellicano F., Cirillo A., Graziani V., Di Secli C., Amarri S., Lasagni A., Marsciani A., Pedini A., Pagliani U., Rossi C., Tortul C., Brunato B., Assaloni R., Zanette G., Livolsi P., Petrucco A., Tercelj K., Manca E., Candido R., Tommasi E., Tornese G., Faleschini E., Tonutti L., Agus S., Zanatta M., Rosolen A., Comici A., Graziano F. M., Misischi I., Pozzilli P., Maurizi A. R., Falasca P., Tuccinardi F., Ricciardi G. P., Di Masa P., Ragonese M., Cipolloni L., Buzzetti R., Moretti C., Leto G., Crino A., Bocchini S., Di Perna P., Giuliano M., Frontoni S., Malandrucco I., Pitocco D., Scalpone R., Toscanella F., Cappa M., Ventura C., Bonato V., De Bernardinis M., Cavallo M. G., Leonetti F., Morano S., Mandosi E., Cicconetti E., Ciampittiello G., Marini M. A., Sabato D., Napoli A., Giraudo F., Toscano V., Massimiani F., Fava D., Gargiulo P., Mecca N., Tubili C., Nardone M. R., Morviducci L., Manca-Bitti M. L., Arcano S., Leotta S., Suraci C., Chiaramonte F., Visalli N., Forte E., Palmacci C., Arnaldi C., Tosini D., Querci F., Trevisan R., Bonfadini S., Prandi E., Felappi B., Locatelli F., Fuso V., Rocca A., Meneghini E., Massafra C., Terni T., Elli P., Ruggeri P., Carrai E., Musacchio N., Lovagnini Scher C. A., Marelli G., Vilei V., Richini D., Inversini C., Franzetti I., Bonacina M., Ciucci A., Sciangula L., Duratorre E., Bonomo M., Bertuzzi F., Chebat E., Muratori M., Scaramuzza A., Zuccotti G. V., Bollati P. M., Colapinto P., Orsi E., Palmieri E., Laurenzi A., Molinari C., Frontino G., Veronelli A., Zecchini B., Bianchi A., Torchio G., Lovati E., Ghilardi G., Dagani R., Carugo D., Berra C., Favacchio G., Fochesato E., Pissarelli A., Bucciarelli L., Bulgheroni M., Guerraggio L., Zonca S., Bossi A. C., Berzi D., Mangone I., Cazzaniga E., Rabini R. A., Boemi M., Faloia E., Boscaro M., Sternari G., Iannilli A., Cherubini V., Busciantella Ricci N., Cartechini M. G., Tesei A. M., Maolo G., Galetta M., Vespasiani G., Tinti G., Manfrini S., Aiello A., Di Vincenzo S., Vitale C., Di Caro P., Lera R., Secco A., Lesina A., Romeo F., Origlia C., Giorda C., Chiambretti A. M., Fornengo R., De Donno V., Gallarotti F., Manti R., Marafetti L., Cadario F., Savastio S., Barbieri P., Massucco P., Ali A., Gottero C., Degiovanni M., Bertaina S., Maghenzani G., Tinti D., Fontana F., Giorgino F., Stefanelli G., Cavallo L., Zecchino C., Piccinno E., Ortolani F., Gallo F., Moramarco F., Marino A., Sparasci G., Mileti G., Lamacchia O., Picca G., Coccioli M. S., Micale F., Serra R., Romano I., Savino T., De Cosmo S., Rauseo A., Delvecchio M., Lapolla R., Braione A. F., Papagno G., Baroni M., Melis M., Cossu E., Songini M., Cambuli V. M., Lo Presti D., Timpanaro T. A., Chiavetta A., Garofalo M. R., Tommaselli L., Tumminia A., Scarpitta A. M., Di Benedetto A., Giunta L., Lombardo F., Salzano G., Cardella F., Roppolo R., Provenzano V., Fleres M., Migliorini S., De Luca A., Leopardi A., Beltrami C., Toni S., Guasti G., Lenzi L., Lamanna C., Mannucci E., Lucchesi S., Dicianni G., Aragona M., Del Prato S., Fattor B., Eisath J., Pasquino B., Reinstadler P., Kaufmann P., Incelli G., Rauch S., Romanelli T., Cauvin V., Franceschi R., Soldani C., Scattoni R., Norgiolini R., Celleno R., Torlone E., Bolli G. B., Lalli C., Scarponi M., Bobbio A., Bechaz M., Pianta A., Marangoni A., Arico C. N., Alagona C., Confortin L., Rossi E., Boscolo Bariga A., Nogara A., Bettio M., Frison V., Guidoni G. L., Fongher C., Contin M. L., Cosma A., Vianello S., Bondesan L., Morea A., Volpi A., Coracina A., Panebianco G., Lombardi S., Costa S., Cipponeri E., Vedovato M., Scotton R., Monciotti C. M., Galderisi A., Dalfra M. G., Lapolla A., Zanon M., Lisato G., Mollo F., Calcaterra F., Miola M., Paccagnella A., Sambataro M., Moro E., Trombetta M., Negri C., Sabbion A., Maffeis C., Strazzabosco M., Mesturino C. A., Mingardi R., Bruttomesso, D., Laviola, L., Lepore, G., Bonfanti, R., Bozzetto, L., Corsi, A., Di Blasi, V., Girelli, A., Grassi, G., Iafusco, D., Rabbone, I., Schiaffini, R., Montani, V., Colleluori, P., Paciotti, V., Alfidi, P., Grosso, J., Tumini, S., Cipriano, P., Vitacolonna, E., Di Vieste, G., Minnucci, A., Antenucci, D., La Penna, G., Taraborrelli, M., Macerala, B., Citro, G., De Morelli, G., Gnasso, A., Irace, C., Citriniti, F., Lazzaro, N., Bruzzese, M., Mammi, F., De Berardinis, F., Santoro, E., Corigliano, G., Corigliano, M., Parillo, M., Schettino, M., Fresa, R., Annuzzi, G., Bassi, V., Santinelli, C., Buono, P., Mozzillo, E., De Feo, E., Esposito, K., Petrizzo, M., Foglia, A., Gatti, A., Gentile, S., Guarino, G., Zanfardino, A., Lambiase, C., Vitale, A., Zucchini, S., Maltoni, G., Forlani, G., Moscatiello, S., Suprani, T., Bensa, M., Tomasi, F., Monesi, M., Nizzoli, M., Acquati, S., Chierici, G., Milli, B., Iughetti, L., Predieri, B., Cavani, R., Romano, S., Manicardi, V., Michelini, M., Cimicchi, M. C., Ugolotti, D., Zavaroni, I., Dei Cas, A., Dall'Aglio, E., Papi, M., Tardio, S. M., Calderini, M. C., Riboni, S., D'Amato, L., Zavaroni, D., Gastaldi, L., Di Bartolo, P., Pellicano, F., Cirillo, A., Graziani, V., Di Secli, C., Amarri, S., Lasagni, A., Marsciani, A., Pedini, A., Pagliani, U., Rossi, C., Tortul, C., Brunato, B., Assaloni, R., Zanette, G., Livolsi, P., Petrucco, A., Tercelj, K., Manca, E., Candido, R., Tommasi, E., Tornese, G., Faleschini, E., Tonutti, L., Agus, S., Zanatta, M., Rosolen, A., Comici, A., Graziano, F. M., Misischi, I., Pozzilli, P., Maurizi, A. R., Falasca, P., Tuccinardi, F., Ricciardi, G. P., Di Masa, P., Ragonese, M., Cipolloni, L., Buzzetti, R., Moretti, C., Leto, G., Crino, A., Bocchini, S., Di Perna, P., Giuliano, M., Frontoni, S., Malandrucco, I., Pitocco, D., Scalpone, R., Toscanella, F., Cappa, M., Ventura, C., Bonato, V., De Bernardinis, M., Cavallo, M. G., Leonetti, F., Morano, S., Mandosi, E., Cicconetti, E., Ciampittiello, G., Marini, M. A., Sabato, D., Napoli, A., Giraudo, F., Toscano, V., Massimiani, F., Fava, D., Gargiulo, P., Mecca, N., Tubili, C., Nardone, M. R., Morviducci, L., Manca-Bitti, M. L., Arcano, S., Leotta, S., Suraci, C., Chiaramonte, F., Visalli, N., Forte, E., Palmacci, C., Arnaldi, C., Tosini, D., Querci, F., Trevisan, R., Bonfadini, S., Prandi, E., Felappi, B., Locatelli, F., Fuso, V., Rocca, A., Meneghini, E., Massafra, C., Terni, T., Elli, P., Ruggeri, P., Carrai, E., Musacchio, N., Lovagnini Scher, C. A., Marelli, G., Vilei, V., Richini, D., Inversini, C., Franzetti, I., Bonacina, M., Ciucci, A., Sciangula, L., Duratorre, E., Bonomo, M., Bertuzzi, F., Chebat, E., Muratori, M., Scaramuzza, A., Zuccotti, G. V., Bollati, P. M., Colapinto, P., Orsi, E., Palmieri, E., Laurenzi, A., Molinari, C., Frontino, G., Veronelli, A., Zecchini, B., Bianchi, A., Torchio, G., Lovati, E., Ghilardi, G., Dagani, R., Carugo, D., Berra, C., Favacchio, G., Fochesato, E., Pissarelli, A., Bucciarelli, L., Bulgheroni, M., Guerraggio, L., Zonca, S., Bossi, A. C., Berzi, D., Mangone, I., Cazzaniga, E., Rabini, R. A., Boemi, M., Faloia, E., Boscaro, M., Sternari, G., Iannilli, A., Cherubini, V., Busciantella Ricci, N., Cartechini, M. G., Tesei, A. M., Maolo, G., Galetta, M., Vespasiani, G., Tinti, G., Manfrini, S., Aiello, A., Di Vincenzo, S., Vitale, C., Di Caro, P., Lera, R., Secco, A., Lesina, A., Romeo, F., Origlia, C., Giorda, C., Chiambretti, A. M., Fornengo, R., De Donno, V., Gallarotti, F., Manti, R., Marafetti, L., Cadario, F., Savastio, S., Barbieri, P., Massucco, P., Ali, A., Gottero, C., Degiovanni, M., Bertaina, S., Maghenzani, G., Tinti, D., Fontana, F., Giorgino, F., Stefanelli, G., Cavallo, L., Zecchino, C., Piccinno, E., Ortolani, F., Gallo, F., Moramarco, F., Marino, A., Sparasci, G., Mileti, G., Lamacchia, O., Picca, G., Coccioli, M. S., Micale, F., Serra, R., Romano, I., Savino, T., De Cosmo, S., Rauseo, A., Delvecchio, M., Lapolla, R., Braione, A. F., Papagno, G., Baroni, M., Melis, M., Cossu, E., Songini, M., Cambuli, V. M., Lo Presti, D., Timpanaro, T. A., Chiavetta, A., Garofalo, M. R., Tommaselli, L., Tumminia, A., Scarpitta, A. M., Di Benedetto, A., Giunta, L., Lombardo, F., Salzano, G., Cardella, F., Roppolo, R., Provenzano, V., Fleres, M., Migliorini, S., De Luca, A., Leopardi, A., Beltrami, C., Toni, S., Guasti, G., Lenzi, L., Lamanna, C., Mannucci, E., Lucchesi, S., Dicianni, G., Aragona, M., Del Prato, S., Fattor, B., Eisath, J., Pasquino, B., Reinstadler, P., Kaufmann, P., Incelli, G., Rauch, S., Romanelli, T., Cauvin, V., Franceschi, R., Soldani, C., Scattoni, R., Norgiolini, R., Celleno, R., Torlone, E., Bolli, G. B., Lalli, C., Scarponi, M., Bobbio, A., Bechaz, M., Pianta, A., Marangoni, A., Arico, C. N., Alagona, C., Confortin, L., Rossi, E., Boscolo Bariga, A., Nogara, A., Bettio, M., Frison, V., Guidoni, G. L., Fongher, C., Contin, M. L., Cosma, A., Vianello, S., Bondesan, L., Morea, A., Volpi, A., Coracina, A., Panebianco, G., Lombardi, S., Costa, S., Cipponeri, E., Vedovato, M., Scotton, R., Monciotti, C. M., Galderisi, A., Dalfra, M. G., Lapolla, A., Zanon, M., Lisato, G., Mollo, F., Calcaterra, F., Miola, M., Paccagnella, A., Sambataro, M., Moro, E., Trombetta, M., Negri, C., Sabbion, A., Maffeis, C., Strazzabosco, M., Mesturino, C. A., Mingardi, R., Bruttomesso, D, Laviola, L, Lepore, G, Bonfanti, R, Bozzetto, L, Corsi, A, Di Blasi, V, Girelli, A, Grassi, G, Iafusco, D, Rabbone, I, Schiaffini, R, Montani, V, Colleluori, P, Paciotti, V, Alfidi, P, Grosso, J, Tumini, S, Cipriano, P, Vitacolonna, E, Di Vieste, G, Minnucci, A, Antenucci, D, La Penna, G, Taraborrelli, M, Macerala, B, Citro, G, De Morelli, G, Gnasso, A, Irace, C, Citriniti, F, Lazzaro, N, Bruzzese, M, Mammi, F, De Berardinis, F, Santoro, E, Corigliano, G, Corigliano, M, Parillo, M, Schettino, M, Fresa, R, Annuzzi, G, Bassi, V, Santinelli, C, Buono, P, Mozzillo, E, De Feo, E, Esposito, K, Petrizzo, M, Foglia, A, Gatti, A, Gentile, S, Guarino, G, Zanfardino, A, Lambiase, C, Vitale, A, Zucchini, S, Maltoni, G, Forlani, G, Moscatiello, S, Suprani, T, Bensa, M, Tomasi, F, Monesi, M, Nizzoli, M, Acquati, S, Chierici, G, Milli, B, Iughetti, L, Predieri, B, Cavani, R, Romano, S, Manicardi, V, Michelini, M, Cimicchi, M, Ugolotti, D, Zavaroni, I, Dei Cas, A, Dall'Aglio, E, Papi, M, Tardio, S, Calderini, M, Riboni, S, D'Amato, L, Zavaroni, D, Gastaldi, L, Di Bartolo, P, Pellicano, F, Cirillo, A, Graziani, V, Di Secli, C, Amarri, S, Lasagni, A, Marsciani, A, Pedini, A, Pagliani, U, Rossi, C, Tortul, C, Brunato, B, Assaloni, R, Zanette, G, Livolsi, P, Petrucco, A, Tercelj, K, Manca, E, Candido, R, Tommasi, E, Tornese, G, Faleschini, E, Tonutti, L, Agus, S, Zanatta, M, Rosolen, A, Comici, A, Graziano, F, Misischi, I, Pozzilli, P, Maurizi, A, Falasca, P, Tuccinardi, F, Ricciardi, G, Di Masa, P, Ragonese, M, Cipolloni, L, Buzzetti, R, Moretti, C, Leto, G, Crino, A, Bocchini, S, Di Perna, P, Giuliano, M, Frontoni, S, Malandrucco, I, Pitocco, D, Scalpone, R, Toscanella, F, Cappa, M, Ventura, C, Bonato, V, De Bernardinis, M, Cavallo, M, Leonetti, F, Morano, S, Mandosi, E, Cicconetti, E, Ciampittiello, G, Marini, M, Sabato, D, Napoli, A, Giraudo, F, Toscano, V, Massimiani, F, Fava, D, Gargiulo, P, Mecca, N, Tubili, C, Nardone, M, Morviducci, L, Manca-Bitti, M, Arcano, S, Leotta, S, Suraci, C, Chiaramonte, F, Visalli, N, Forte, E, Palmacci, C, Arnaldi, C, Tosini, D, Querci, F, Trevisan, R, Bonfadini, S, Prandi, E, Felappi, B, Locatelli, F, Fuso, V, Rocca, A, Meneghini, E, Massafra, C, Terni, T, Elli, P, Ruggeri, P, Carrai, E, Musacchio, N, Lovagnini Scher, C, Marelli, G, Vilei, V, Richini, D, Inversini, C, Franzetti, I, Bonacina, M, Ciucci, A, Sciangula, L, Duratorre, E, Bonomo, M, Bertuzzi, F, Chebat, E, Muratori, M, Scaramuzza, A, Zuccotti, G, Bollati, P, Colapinto, P, Orsi, E, Palmieri, E, Laurenzi, A, Molinari, C, Frontino, G, Veronelli, A, Zecchini, B, Bianchi, A, Torchio, G, Lovati, E, Ghilardi, G, Dagani, R, Carugo, D, Berra, C, Favacchio, G, Fochesato, E, Pissarelli, A, Bucciarelli, L, Bulgheroni, M, Guerraggio, L, Zonca, S, Bossi, A, Berzi, D, Mangone, I, Cazzaniga, E, Rabini, R, Boemi, M, Faloia, E, Boscaro, M, Sternari, G, Iannilli, A, Cherubini, V, Busciantella Ricci, N, Cartechini, M, Tesei, A, Maolo, G, Galetta, M, Vespasiani, G, Tinti, G, Manfrini, S, Aiello, A, Di Vincenzo, S, Vitale, C, Di Caro, P, Lera, R, Secco, A, Lesina, A, Romeo, F, Origlia, C, Giorda, C, Chiambretti, A, Fornengo, R, De Donno, V, Gallarotti, F, Manti, R, Marafetti, L, Cadario, F, Savastio, S, Barbieri, P, Massucco, P, Ali, A, Gottero, C, Degiovanni, M, Bertaina, S, Maghenzani, G, Tinti, D, Fontana, F, Giorgino, F, Stefanelli, G, Cavallo, L, Zecchino, C, Piccinno, E, Ortolani, F, Gallo, F, Moramarco, F, Marino, A, Sparasci, G, Mileti, G, Lamacchia, O, Picca, G, Coccioli, M, Micale, F, Serra, R, Romano, I, Savino, T, De Cosmo, S, Rauseo, A, Delvecchio, M, Lapolla, R, Braione, A, Papagno, G, Baroni, M, Melis, M, Cossu, E, Songini, M, Cambuli, V, Lo Presti, D, Timpanaro, T, Chiavetta, A, Garofalo, M, Tommaselli, L, Tumminia, A, Scarpitta, A, Di Benedetto, A, Giunta, L, Lombardo, F, Salzano, G, Cardella, F, Roppolo, R, Provenzano, V, Fleres, M, Migliorini, S, De Luca, A, Leopardi, A, Beltrami, C, Toni, S, Guasti, G, Lenzi, L, Lamanna, C, Mannucci, E, Lucchesi, S, Dicianni, G, Aragona, M, Del Prato, S, Fattor, B, Eisath, J, Pasquino, B, Reinstadler, P, Kaufmann, P, Incelli, G, Rauch, S, Romanelli, T, Cauvin, V, Franceschi, R, Soldani, C, Scattoni, R, Norgiolini, R, Celleno, R, Torlone, E, Bolli, G, Lalli, C, Scarponi, M, Bobbio, A, Bechaz, M, Pianta, A, Marangoni, A, Arico, C, Alagona, C, Confortin, L, Rossi, E, Boscolo Bariga, A, Nogara, A, Bettio, M, Frison, V, Guidoni, G, Fongher, C, Contin, M, Cosma, A, Vianello, S, Bondesan, L, Morea, A, Volpi, A, Coracina, A, Panebianco, G, Lombardi, S, Costa, S, Cipponeri, E, Vedovato, M, Scotton, R, Monciotti, C, Galderisi, A, Dalfra, M, Lapolla, A, Zanon, M, Lisato, G, Mollo, F, Calcaterra, F, Miola, M, Paccagnella, A, Sambataro, M, Moro, E, Trombetta, M, Negri, C, Sabbion, A, Maffeis, C, Strazzabosco, M, Mesturino, C, Mingardi, R, Bruttomesso, Daniela, Laviola, Luigi, Lepore, Giuseppe, Bonfanti, Riccardo, Bozzetto, Lutgarda, Corsi, Andrea, Di Blasi, Vincenzo, Girelli, Angela, Grassi, Giorgio, Iafusco, Dario, Rabbone, Ivana, Schiaffini, Riccardo, and Tornese, Gianluca
- Subjects
Blood Glucose ,Male ,Pediatrics ,Glucose control ,IMPACT ,Cost-Benefit Analysis ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,CHILDREN ,Practice Patterns ,Infusions, Subcutaneous ,law.invention ,Settore MED/13 ,Endocrinology ,Randomized controlled trial ,law ,Surveys and Questionnaires ,Insulin ,Practice Patterns, Physicians' ,Child ,Adult ,Diabetes Mellitus, Type 1 ,Female ,Guideline Adherence ,Health Care Surveys ,Humans ,Hypoglycemic Agents ,Italy ,Medical Laboratory Technology ,Medicine (all) ,PUMP THERAPY ,Subcutaneous ,Diabetes ,Diabetes and Metabolism ,TERM METABOLIC-CONTROL ,Human ,Type 1 ,Infusions ,medicine.medical_specialty ,Keywords KeyWords Plus:TERM METABOLIC-CONTROL ,BOLUS CALCULATOR ,PEDIATRIC-PATIENTS ,CONTROLLED-TRIAL ,CSII ,Diabetes mellitus ,Diabetes Mellitus ,medicine ,term metabolic-control ,bolus calculator ,pump therapy ,pediatric-patients ,controlled-trial ,children ,impact CSII ,Glucose sensors ,Cost-Benefit Analysi ,Intensive care medicine ,Type 1 diabetes ,Physicians' ,Hypoglycemic Agent ,business.industry ,medicine.disease ,Subcutaneous insulin ,Infusions, Subcutaneou ,Multicenter study ,Health Care Survey ,business - Abstract
Background: Continuous subcutaneous insulin infusion (CSII) is increasing worldwide, mostly because of improved technology. The aim of this study was to evaluate the current status of CSII in Italy. Materials and Methods: Physicians from 272 diabetes centers received a questionnaire investigating clinical features, pump technology, and management of patients on CSII. Results: Two hundred seventeen centers (79.8%) joined the study and, by the end of April 2013, gave information about 10,152 patients treated with CSII: 98.2% with type 1 diabetes mellitus, 81.4% adults, 57% female, and 61% with a conventional pump versus 39% with a sensor-augmented pump. CSII advanced functions were used by 68% of patients, and glucose sensors were used 12 days per month on average. Fifty-eight percent of diabetes centers had more than 20 patients on CSII, but there were differences among centers and among regions. The main indication for CSII was poor glucose control. Dropout was mainly due to pump wearability or nonoptimal glycemic control. Twenty-four hour assistance was guaranteed in 81% of centers. A full diabetes team (physician+ nurse + dietician + psychologist) was available in 23% of adult-care diabetes centers and in 53%of pediatric diabetes units. Conclusions: CSII keeps increasing in Italy. More work is needed to ensure uniform treatment strategies throughout the country and to improve pump use.
- Published
- 2015
4. Insulin pump failures in Italian children with Type 1 diabetes: retrospective 1-year cohort study
- Author
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Rabbone, I., Minuto, N., Bonfanti, R., Marigliano, M., Cerutti, F., Cherubini, V., d(')Annunzio, G., Frongia, A. P., Iafusco, D., Ignaccolo, G., Lombardo, F., Schiaffini, R., Toni, S., Tumini, S., Zucchini, S., Pistorio, A., Scaramuzza, A. E., Scaramuuzza, A. E., Lera, R., Secco, A., Bobbio, A., Bechaz, M., Piccinno, E., Natale, M. P., Ortolani, F., Zecchino, C., Lonero, A., Maltoni, G., Pasquino, B., Gallo, F., Frongia, P., Ripoli, C., Lo Presti, D., Timpanaro, T., Citriniti, F., Suprani, T., Carinci, S., Cipriano, P., Lazzaro, N., De Donno, V., Gallarotti, F., Lenzi, L., Piccini, B., Vittorio, L., Russo, C., Borea, R., Mamm(`i), F., Bruzzese, M., Ventrici, C., Salzano, G., Frontino, G., Bonura, C., Favalli, V., Scaramuzza, A., Zuccotti, G. V., Ferrari, M., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, E., Buono, P., Confetto, S., Zanfardino, A., Cadario, F., Savastio, S., Fiorito, C., Barbieri, P., Piredda, G., Cardella, F., Ropolo, R., Federico, G., Marchi, B., Benevento, D., Carducci, C., Mancabitti, M. L., Delvecchio, M., Lapolla, R., Gaiero, A., Fichera, G., Ignaccolo, M. G., Tinti, D., Cauvin, V., Franceschi, R., Biagioni, M., Salvatoni, A., Scolari, A., Maffeis, C., Sabbion, A., Arnaldi, C., Tosini, D., Rabbone, I, Minuto, N., Bonfanti, R., Marigliano, M., Cerutti, F., Cherubini, V., D'Annunzio, G., Frongia, A. P., Iafusco, Dario, Ignaccolo, G., Lombardo, F., Schiaffini, R., Toni, S., Tumini, S., Zucchini, S., Pistorio, A., Scaramuzza, A. E., Rabbone, I., Iafusco, D., Lera, R., Secco, A., Bobbio, A., Bechaz, M., Piccinno, E., Natale, M. P., Ortolani, F., Zecchino, C., Lonero, A., Maltoni, G., Pasquino, B., Gallo, F., Frongia, P., Ripoli, C., Lo Presti, D., Timpanaro, T., Citriniti, F., Suprani, T., Carinci, S., Cipriano, P., Lazzaro, N., De Donno, V., Gallarotti, F., Lenzi, L., Piccini, B., Vittorio, L., Russo, C., Borea, R., Mammi, F., Bruzzese, M., Ventrici, C., Salzano, G., Frontino, G., Bonura, C., Favalli, V., Scaramuzza, A., Zuccotti, G. V., Ferrari, M., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, E., Buono, P., Confetto, S., Zanfardino, A., Cadario, F., Savastio, S., Fiorito, C., Barbieri, P., Piredda, G., Cardella, F., Ropolo, R., Federico, G., Marchi, B., Benevento, D., Carducci, C., Mancabitti, M. L., Del Vecchio, M., Lapolla, R., Gaiero, A., Fichera, G., Ignaccolo, M. G., Tinti, D., Cauvin, V., Franceschi, R., Biagioni, M., Salvatoni, A., Scolari, A., Maffeis, C., Sabbion, A., Arnaldi, C., Tosini, D., Rabbone, Minuto, Mammì, F., and Mozzillo, Enza.
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Blood Glucose ,Male ,Pediatrics ,Adolescent ,Blood Glucose Self-Monitoring ,Child ,Child, Preschool ,Diabetes Mellitus, Type 1 ,Equipment Failure ,Female ,Humans ,Infant ,Insulin ,Italy ,Retrospective Studies ,Insulin Infusion Systems ,type 1 diabetes ,medicine.medical_treatment ,Endocrinology, Diabetes and Metabolism ,Internal Medicine ,Endocrinology ,0302 clinical medicine ,Retrospective Studie ,Medicine ,030212 general & internal medicine ,Diabetes ,Diabetology ,failure ,Diabetes and Metabolism ,children and adolescents ,insulin pump ,Cohort study ,Type 1 ,Human ,Insulin pump ,medicine.medical_specialty ,Disease duration ,030209 endocrinology & metabolism ,03 medical and health sciences ,Diabetes mellitus ,Diabetes Mellitus ,Preschool ,Type 1 diabetes ,business.industry ,Diabetes, Type1, Pump, Insulin ,Type1 ,Retrospective cohort study ,Pump ,medicine.disease ,Surgery ,Insulin Infusion System ,business - Abstract
Aims Insulin pump failure and/or malfunction requiring replacement have not been thoroughly investigated. This study evaluated pump replacement in children and adolescents with Type 1 diabetes using insulin pump therapy. Methods Data were collected for all participants younger than 19 years, starting insulin pump therapy before 31 December 2013. For each child, age, disease duration, date of insulin pump therapy initiation, insulin pump model, failure/malfunction/replacement yes/no and reason were considered for the year 2013. Results Data were returned by 40 of 43 paediatric centres belonging to the Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology. In total, 1574 of 11 311 (13.9%) children and adolescents with Type 1 diabetes were using an insulin pump: 29.2% Animas VIBE™, 9.4% Medtronic MiniMed 715/515™, 34.3% Medtronic MiniMed VEO™, 24.3% Accu-Check Spirit Combo™ and 2.8% other models. In 2013, 0.165 insulin pump replacements per patient-year (11.8% due to pump failure/malfunction and 4.7% due to accidental damage) were recorded. Animas VIBE™ (22.1%) and Medtronic MiniMed VEO™ (17.7%) were the most replaced. Conclusions In a large cohort of Italian children and adolescents with Type 1 diabetes, insulin pump failure/malfunction and consequent replacement are aligned with rates previously reported and higher in more sophisticated pump models. This article is protected by copyright. All rights reserved.
- Published
- 2017
5. La terapia insulinica sottocutanea continua (CSII) in Italia. Terza indagine nazionale [Subcutaneous insulin infusion (CSII) in italy: The third national survey]
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Bruttomesso, D, Laviola, L, Lepore, G, Bonfanti, R, Bozzetto, L, Corsi, A, Di Blasi, V, Girelli, A, Grassi, G, Iafusco, D, Rabbone, I, Schiaffini, R, Montani, V, Colleluori, P, Paciotti, V, Alfidi, P, Grosso, J, Tumini, S, Cipriano, P, Vitacolonna, E, Di Vieste, G, Minnucci, A, Antenucci, D, La Penna, G, Taraborrelli, M, Macerala, B, Citro, G, De Morelli, G, Gnasso, A, Irace, C, Citriniti, F, Lazzaro, N, Bruzzese, M, Mammì, F, De Berardinis, F, Santoro, E, Corigliano, G, Corigliano, M, Parillo, M, Schettino, M, Fresa, R, Annuzzi, G, Bassi, V, Santinelli, C, Buono, P, Mozzillo, E, Russo, V, Esposito, K, Petrizzo, M, Foglia, A, Gatti, A, Gentile, S, Guarino, G, Zanfardino, A, Lambiase, C, Vitale, A, Zucchini, S, Maltoni, G, Forlani, G, Moscatiello, S, Suprani, T, Bensa, M, Tomasi, F, Monesi, M, Nizzoli, M, Acquati, S, Chierici, G, Milli, B, Iughetti, Lorenzo, Predieri, Barbara, Cavani, R, Romano, S, Manicardi, V, Michelini, M, Cimicchi, M. C, Ugolotti, D, Zavaroni, I., Dei Cas, A, Dall’Aglio, E, Papi, M, Tardio, S, Calderini, M, Riboni, S, D’Amato, L, Zavaroni, D, Gastaldi, L, Cirillo, A, Di Bartolo, P, Pellicano, F, Di Seclì, C, Amarri, S, Lasagni, A, Marsciani, A, Pedini, A, Pagliani, U, Rossi, C, Tortul, C, Brunato, B, Assaloni, R, Zanette, G, Livolsi, P, Petrucco, A, Tercelj, K, Manca, E, Candido, R, Tommasi, E, Tornese, G, Faleschini, E, Tonutti, L, Agus, S, Zanatta, M, Rosolen, A, Comici, A, Falasca, P, Graziano, F. M, Misischi, I, Forte, E, Palmacci, C, Tuccinardi, F, Ricciardi, G. P, Di Masa, P, Ragonese, M, Cipolloni, L, Buzzetti, R, Moretti, C, Leto, G, Crinò, A, Bocchini, S, Pozzilli, P, Maurizi, A. R, Di Perna, P, Giuliano, M, Frontoni, S, Malandrucco, I, Pitocco, D, Scalpone, R, Toscanella, F, Cappa, M, Ventura, C, Bonato, V, De Bernardinis, M, Cavallo, M. G, Leonetti, F, Morano, S, Mandosi, E, Cicconetti, E, Ciampittiello, G, Marini, M. A, Sabato, D, Lauro, D, Napoli, A, Giraudo, F, Toscano, V, Pugliese, G, Massimiani, F, Fava, D, Gargiulo, P, Mecca, N, Tubili, C, Nardone, M. R, Morviducci, L, Manca Bitti, M. L, Arcano, S, Leotta, S, Suraci, C, Chiaramonte, F, Visalli, N, Strollo, F, Arnaldi, C, Tosini, D, Ponzani, P, Patrone, M, Guido, R, Aglialoro, A, Ghisoni, G, Fabbri, F, Bordone, C, Maggi, D, Cordera, R, Minuto, N, Rotondo, E, Speranza, D, Siri, M, Carro, S, Zappa, A, Parmigiani, S, Nieri, S, Briatore, L, Calvo, G, Querci, F, Trevisan, R, Bonfadini, S, Prandi, E, Felappi, B, Locatelli, F, Fuso, V, Rocca, A, Meneghini, E, Massafra, C, Terni, T, Elli, P, Ruggeri, P, Carrai, E, Musacchio, N, Marelli, G, Vilei, V, Richini, D, Inversini, C, Franzetti, I, Bonacina, M, Ciucci, A, Sciangula, L, Duratorre, E, Bonomo, M, Bertuzzi, F, Chebat, E, Muratori, M, Scaramuzza, A, Zuccotti, G. V, Bollati, P. M, Colapinto, P, Orsi, E, Palmieri, E, Laurenzi, A, Molinari, C, Frontino, G, Veronelli, A, Zecchini, B, Bianchi, A, Torchio, G, Lovati, E, Ghilardi, G, Dagani, R, Berra, C, Fochesato, E, Pissarelli, A, Bucciarelli, L, Bulgheroni, M, Guerraggio, L, Zonca, S, Bossi, A. C, Berzi, D, Mangone, I, Cazzaniga, E, Rabini, R. A, Boemi, M, Faloia, E, Boscaro, M, Sternari, G, Iannilli, A, Cherubini, V, Tinti, G, Manfrini, S, Tesei, A. M, Maolo, G, Galetta, M, Vespasiani, G, Busciantella Ricci, N, Cartechini, M. G, Aiello, A, Di Vincenzo, S, Vitale, C, Di Caro, P, Lera, R, Secco, A, Lesina, A, Romeo, F, Origlia, C, Giorda, C., Chiambretti, A. M, Fornengo, R, De Donno, V, Gallarotti, F, Manti, R, Marafetti, L, Cadario, F, Savastio, S, Barbieri, P, Massucco, P, Alì, A, Gottero, C, Degiovanni, M, Bertaina, S, Maghenzani, G, Tinti, D, Fontana, F, Giorgino, F, Stefanelli, G, Cavallo, L, Zecchino, C, Piccinno, E, Ortolani, F, Gallo, F, Moramarco, F, Marino, A, Sparasci, G, Mileti, G, Lamacchia, O, Picca, G, Coccioli, M. S, Micale, F, Serra, R, Romano, I, Savino, T, Giovanni, S, De Cosmo, S, Rauseo, A, Delvecchio, M, Lapolla, R, Braione, A. F, Papagno, G, Baroni, M, Melis, M, Cossu, E, Songini, M, Cambuli, V. M, Lo Presti, D, Timpanaro, T, Chiavetta, A, Garofalo, M. R, Tommaselli, L, Tumminia, A, Scarpitta, A. M, Di Benedetto, A, Giunta, L, Lombardo, F, Salzano, G, Cardella, F, Roppolo, R, Provenzano, V, Fleres, M, Migliorini, S, De Luca, A, Leopardi, A, Beltrami, C, Toni, S, Guasti, G, Lenzi, L, Lamanna, C, Mannucci, E, Lucchesi, S, Di Cianni, G, Aragona, M, Del Prato, S, Fattor, B, Eisath, J, Pasquino, B, Reinstadler, P, Kaufmann, P, Incelli, G, Rauch, S, Romanelli, T, Cauvin, V, Franceschi, R, Ospedale, S. C, Soldani, C, Scattoni, R, Norgiolini, R, Celleno, R, Torlone, E, Bolli, G. B, Lalli, C, Scarponi, M, Bobbio, A, Bechaz, M, Pianta, A, Marangoni, A, Aricò, C. N, Alagona, C, Confortin, L, Rossi, E, Boscolo, B. A, Nogara, A, Bettio, M, Frison, V, Guidoni, G. L, Fongher, C, Contin, M. L, Cosma, A, Vianello, S, Bondesan, L, Morea, A, Volpi, A, Coracina, A, Panebianco, G, Lombardi, S, Costa, S, Cipponeri, E, Vedovato, M, Scotton, R, Monciotti, C. M, Galderisi, A, Dalfrà, M. G, Lapolla, A, Portogruaro, S, Zanon, M, Lisato, G, Mollo, F, Calcaterra, F, Miola, M, Paccagnella, A, Sambataro, M, Moro, E, Trombetta, M, Negri, C, Sabbion, A, Maffeis, C, Strazzabosco, M, Mesturino, C. A, and Mingardi, R.
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Diabetes and Metabolism ,Continuous subcutaneous insulin infusion ,Diabetes mellitus ,Insulin pump ,Endocrinology ,Internal Medicine ,Endocrinology, Diabetes and Metabolism - Published
- 2015
6. Subcutaneous insulin infusion (CSII) in italy: The third national survey
- Author
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Bruttomesso, D., Laviola, L., Lepore, G., Bonfanti, R., Bozzetto, L., Corsi, A., Di Blasi, V., Girelli, A., Grassi, G., Iafusco, D., Rabbone, I., Schiaffini, R., Montani, V., Colleluori, P., Paciotti, V., Alfidi, P., Grosso, J., Tumini, S., Cipriano, P., Vitacolonna, E., Di Vieste, G., Minnucci, A., Antenucci, D., La Penna, G., Taraborrelli, M., Macerala, B., Citro, G., De Morelli, G., Gnasso, A., Irace, C., Citriniti, F., Lazzaro, N., Bruzzese, M., Mammi, F., De Berardinis, F., Santoro, E., Corigliano, G., Corigliano, M., Parillo, M., Schettino, M., Fresa, R., Annuzzi, G., Bassi, V., Santinelli, C., Buono, P., Mozzillo, E., Russo, V., De Feo, E., Esposito, K., Petrizzo, M., Foglia, A., Gatti, A., Gentile, S., Guarino, G., Zanfardino, A., Lambiase, C., Vitale, A., Zucchini, S., Maltoni, G., Forlani, G., Moscatiello, S., Suprani, T., Bensa, M., Tomasi, F., Monesi, M., Nizzoli, M., Acquati, S., Chierici, G., Milli, B., Iughetti, L., Predieri, B., Cavani, R., Romano, S., Manicardi, V., Michelini, M., Cimicchi, M. C., Ugolotti, D., Zavaroni, I., Dei Cas, A., Dall'Aglio, E., Papi, M., Tardio, S. M., Calderini, M. C., Riboni, S., D'Amato, L., Zavaroni, D., Gastaldi, L., Cirillo, A., Di Bartolo, P., Pellicano, F., Di Secli, C., Amarri, S., Lasagni, A., Marsciani, A., Pedini, A., Pagliani, U., Rossi, C., Tortul, C., Brunato, B., Assaloni, R., Zanette, G., Livolsi, P., Petrucco, A., Tercelj, K., Manca, E., Candido, R., Tommasi, E., Tornese, G., Faleschini, E., Tonutti, L., Agus, S., Zanatta, M., Rosolen, A., Comici, A., Falasca, P., Graziano, F. M., Misischi, I., Forte, E., Palmacci, C., Tuccinardi, F., Ricciardi, G. P., Di Masa, P., Ragonese, M., Cipolloni, L., Buzzetti, R., Moretti, C., Leto, G., Crino, A., Bocchini, S., Pozzilli, P., Maurizi, A. R., Di Perna, P., Giuliano, M., Frontoni, S., Malandrucco, I., Pitocco, D., Scalpone, R., Toscanella, F., Cappa, M., Ventura, C., Bonato, V., De Bernardinis, M., Cavallo, M. G., Leonetti, F., Morano, S., Mandosi, E., Cicconetti, E., Ciampittiello, G., Marini, M. A., Sabato, D., Lauro, D., Napoli, A., Giraudo, F., Toscano, V., Pugliese, G., Massimiani, F., Fava, D., Gargiulo, P., Mecca, N., Tubili, C., Nardone, M. R., Morviducci, L., Manca-Bitti, M. L., Arcano, S., Leotta, S., Suraci, C., Chiaramonte, F., Visalli, N., Strollo, F., Arnaldi, C., Tosini, D., Ponzani, P., Patrone, M., Guido, R., Aglialoro, A., Ghisoni, G., Fabbri, F., Bordone, C., Maggi, D., Cordera, R., Minuto, N., Rotondo, E., Speranza, D., Siri, M., Carro, S., Zappa, A., Parmigiani, S., Nieri, S., Briatore, L., Calvo, G., Querci, F., Trevisan, R., Bonfadini, S., Prandi, E., Felappi, B., Locatelli, F., Fuso, V., Rocca, A., Meneghini, E., Massafra, C., Terni, T., Elli, P., Ruggeri, P., Carrai, E., Musacchio, N., Marelli, G., Vilei, V., Richini, D., Inversini, C., Franzetti, I., Bonacina, M., Ciucci, A., Sciangula, L., Duratorre, E., Bonomo, M., Bertuzzi, F., Chebat, E., Muratori, M., Scaramuzza, A., Zuccotti, G. V., Bollati, P. M., Colapinto, P., Orsi, E., Palmieri, E., Laurenzi, A., Molinari, C., Frontino, G., Veronelli, A., Zecchini, B., Bianchi, A., Torchio, G., Lovati, E., Ghilardi, G., Dagani, R., Berra, C., Fochesato, E., Pissarelli, A., Bucciarelli, L., Bulgheroni, M., Guerraggio, L., Zonca, S., Bossi, A. C., Berzi, D., Mangone, I., Cazzaniga, E., Rabini, R. A., Boemi, M., Faloia, E., Boscaro, M., Sternari, G., Iannilli, A., Cherubini, V., Tinti, G., Manfrini, S., Tesei, A. M., Maolo, G., Galetta, M., Vespasiani, G., Busciantella Ricci, N., Cartechini, M. G., Aiello, A., Di Vincenzo, S., Vitale, C., Di Caro, P., Lera, R., Secco, A., Lesina, A., Romeo, F., Origlia, C., Giorda, C., Chiambretti, A. M., Fornengo, R., De Donno, V., Gallarotti, F., Manti, R., Marafetti, L., Cadario, F., Savastio, S., Barbieri, P., Massucco, P., Ali, A., Gottero, C., Degiovanni, M., Bertaina, S., Maghenzani, G., Tinti, D., Fontana, F., Giorgino, F., Stefanelli, G., Cavallo, L., Zecchino, C., Piccinno, E., Ortolani, F., Gallo, F., Moramarco, F., Marino, A., Sparasci, G., Mileti, G., Lamacchia, O., Picca, G., Coccioli, M. S., Micale, F., Serra, R., Romano, I., Savino, T., Giovanni, S., De Cosmo, S., Rauseo, A., Delvecchio, M., Lapolla, R., Braione, A. F., Papagno, G., Baroni, M., Melis, M., Cossu, E., Songini, M., Cambuli, V. M., Lo Presti, D., Timpanaro, T. A., Chiavetta, A., Garofalo, M. R., Tommaselli, L., Tumminia, A., Scarpitta, A. M., Di Benedetto, A., Giunta, L., Lombardo, F., Salzano, G., Cardella, F., Roppolo, R., Provenzano, V., Fleres, M., Migliorini, S., De Luca, A., Leopardi, A., Beltrami, C., Toni, S., Guasti, G., Lenzi, L., Lamanna, C., Mannucci, E., Lucchesi, S., Di Cianni, G., Aragona, M., Del Prato, S., Fattor, B., Eisath, J., Pasquino, B., Reinstadler, P., Kaufmann, P., Incelli, G., Rauch, S., Romanelli, T., Cauvin, V., Franceschi, R., Ospedale, S. C., Soldani, C., Scattoni, R., Norgiolini, R., Celleno, R., Torlone, E., Bolli, G. B., Lalli, C., Scarponi, M., Bobbio, A., Bechaz, M., Pianta, A., Marangoni, A., Arico, C. N., Alagona, C., Confortin, L., Rossi, E., Boscolo, B. A., Nogara, A., Bettio, M., Frison, V., Guidoni, G. L., Fongher, C., Contin, M. L., Cosma, A., Vianello, S., Bondesan, L., Morea, A., Volpi, A., Coracina, A., Panebianco, G., Lombardi, S., Costa, S., Cipponeri, E., Vedovato, M., Scotton, R., Monciotti, C. M., Galderisi, A., Dalfra, M. G., Lapolla, A., Portogruaro, S., Zanon, M., Lisato, G., Mollo, F., Calcaterra, F., Miola, M., Paccagnella, A., Sambataro, M., Moro, E., Trombetta, M., Negri, C., Sabbion, A., Maffeis, C., Strazzabosco, M., Mesturino, C. A., and Mingardi, R.
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Diabetes mellitus ,Continuous subcutaneous insulin infusion ,Insulin pump - Published
- 2015
7. Emerging effects of early environmental factors over genetic background for type 1 diabetes susceptibility: Evidence from a nationwide Italian twin study
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Nisticò, L, Iafusco, D, Galderisi, A, Fagnani, C, Cotichini, R, Toccaceli, V, Stazi, Ma, Study Group on Diabetes of the Italian Society of Pediatric Endocrinology, Collaborators: Cherubini V, D. i. a. b. e. t. o. l. o. g. y., Iannilli, A, Paparusso, Am, Cavallo, L, Zecchino, C, de Filippo, G, Gargantini, L, Salardi, S, Zucchini, S, Maltoni, G, Pasquino, B, Kaufmann, P, Buzi, F, Prandi, E, Gallo, F, Cicchetti, M, Castaldo, E, Citriniti, F, Chiarelli, F, Tumini, S, Di Stefano, A, Sperlì, D, De Marco, R, Banin, P, Toni, S, Lenzi, L, Del Vecchio, M, Lorini, R, D'Annunzio, G, Ingletto, D, Scaramuzza, A, Zuccotti, Gv, Chiumello, G, Meschi, F, Bonfanti, R, Frontino, G, de Luca, F, Lombardo, F, Salzano, G, Iughetti, L, Franzese, A, Buono, P, De Simone, I, Prisco, F, Cocca, A, Cadario, F, Monciotti, Cm, Savio, V, Cardella, F, Vanelli, M, Chiari, G, Errico, K, Iovane, B, Calcaterra, V, Citro, F, Cantoni, S, Marsciani, A, Cappa, M, Patera, Pi, Schiaffini, R, Sulli, N, Spoletini, M, Cerutti, Franco, Rabbone, I, Sicignano, S, Cauvin, V, Bellizzi, M, Tonini, G, Faleschini, E, Salvatoni, A, Pinelli, L, Maffeis, C, Contreas, G., Nisticò, L, Iafusco, D, Galderisi, A, Fagnani, C, Cotichini, R, Toccaceli, V, Stazi, Ma, and the Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and, Diabetology
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Adult ,Male ,Endocrinology, Diabetes and Metabolism ,Biochemistry ,Endocrinology ,Clinical Biochemistry ,Biochemistry (medical) ,medicine.medical_specialty ,Adolescent ,Child ,Child, Preschool ,Diabetes Mellitus, Type 1 ,Environment ,Female ,Humans ,Infant ,Kaplan-Meier Estimate ,Twins, Dizygotic ,Twins, Monozygotic ,Genetic Predisposition to Disease ,type 1 diabetes ,Concordance ,Population ,Twins ,Context (language use) ,Monozygotic ,Internal medicine ,Diabetes mellitus ,Diabetes Mellitus ,Dizygotic ,medicine ,Preschool ,education ,Type 1 diabetes ,education.field_of_study ,business.industry ,medicine.disease ,Twin study ,Zygosity ,Diabetes and Metabolism ,Cohort ,Environmental Exposures ,business ,Type 1 - Abstract
Context:The incidence of type 1 diabetes has been increasing over time.Objective:We estimated the genetic and environmental components of type 1 diabetes susceptibility in a twin cohort of recent-onset cases to explore the sources of changing disease epidemiology.Design:We linked the population-based Italian Twin Registry with 14803 type 1 diabetes records from 36 pediatric diabetes care centers throughout Italy, except Sardinia, and identified 173 diabetic twins. Patients were positive for at least one autoantibody to islet cell, glutamate decarboxylase, tyrosine phosphatase, insulin, or zinc transporter 8 and were insulin dependent since their diagnosis. Zygosity was determined by DNA genotyping or by questionnaire.Outcome Measures:We estimated proband-wise concordance, cotwin recurrence risk with Kaplan-Meier method, and genetic and environmental proportions of susceptibility variance by structural equation models.Results:We recruited 104 diabetic twins (53 males) from 88 pairs (34 monozygotic, 54 dizygotic) and one triplet. The mean age at diagnosis was 8.1 yr (range 1.1-20.5 yr), and the median year of diagnosis was 2002. Proband-wise concordances were 45.5 and 16.4% in monozygotic and dizygotic pairs (P = 0.01). Recurrence risks in monozygotic and dizygotic cotwins were 37 and 12% after 10 yr from the proband's diagnosis (P = 0.005). Genetic contribution to type 1 diabetes susceptibility was 40% (95% confidence interval 8-78), and the shared and individual-specific environmental components were 51% (14-77) and 9% (4-19), respectively.Conclusions:In addition to the moderate genetic effects on type 1 diabetes susceptibility, our results draw attention to the substantial shared environmental effects, suggesting that exposures in fetal or early postnatal life may contribute to the increasing incidence of the disease.
- Published
- 2012
8. Potential celiac disease in type 1 diabetes: a multicenter study
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Franzese, A., Iafusco, D., Spadaro, R., Cavaliere, O., Prisco, F., Auricchio, R., Troncone, R., Valerio, G., Lera, R., Fontana, F., Cherubini, V., Biagioni, M., Pasquino, B., Gallo, F., Suprani, T., Tumini, S., Lazzaro, N., Toni, S., D'Annunzio, G., Emmanuele, V., Bruzzese, M., Lombardo, F., Bonfanti, R., Tronconi, G. M., Iughetti, L., Monciotti, C., Cardella, F., Chiari, G., Vanelli, M., Calcaterra, V., Federico, G., Crino, A., Cappa, M., Patera, I., Negro, I., Delvecchio, M., Rabbone, I., Guerraggio, L., Salvatoni, A., Costantini, C., Pinelli, L., Franzese, A, Iafusco, D, Spadaro, R, Cavaliere, O, Prisco, F, Auricchio, R, Troncone, R, Valerio, G, Bonfanti, R, Study Group on diabetes of Italian Society of pediatric Endocrinology and, Diabetology, Franzese, Adriana, D., Iafusco, R., Spadaro, O., Cavaliere, F., Prisco, Auricchio, Renata, Troncone, Riccardo, G., Valerio, S. o., Diabete, Diabetology, Iafusco, Dario, THE STUDY GROUP ON DIABETES OF ITALIAN SOCIETY OF, Pediatric, and ENDOCRINOLOGY AND DIABETOLOGY, Isped
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Male ,medicine.medical_specialty ,Adolescent ,endocrine system diseases ,Endocrinology, Diabetes and Metabolism ,Disease ,Adolescent, Celiac Disease ,Serology ,Diet, Gluten-Free ,Endocrinology ,Internal medicine ,Diabetes mellitus ,Internal Medicine ,medicine ,Humans ,Child ,Type 1 diabetes ,complications/epidemiology, Diet ,Routine screening ,business.industry ,epidemiology/etiology, Child, Child ,Infant ,nutritional and metabolic diseases ,Potential celiac disease ,General Medicine ,Autoimmune disorders ,medicine.disease ,Preschool, Cross-Sectional Studies, Diabetes Mellitu ,Celiac disease ,humanities ,Gluten-Free, Female, Humans, Infant, Male ,Celiac Disease ,Child, Preschool ,Cross-Sectional Studies ,Diabetes Mellitus, Type 1 ,Female ,Multicenter study ,Immunology ,Gluten free ,business ,Type 1 - Abstract
Aims To describe the prevalence of potential celiac disease (pot-CD) in young patients with type 1 diabetes mellitus (T1DM) and characterize their clinical features. Methods This cross-sectional multicenter study involved 8717 T1DM patients from 31 Italian centers. Information was collected on the total number of T1DM patients, CD patients and pot-CD patients. The following data were collected on pot-CD patients: gender, age at T1DM diagnosis, age at the first CD serological positivity, presence of CD-related symptoms, presence of other autoimmune disorders and treatment with gluten free diet (GFD). One thousand-three-hundred-sixty-one patients who were positive for CD serology were the control group. Results CD serological positivity was found in 7.2% T1DM patients. Prevalence of pot-CD was 12.2% ( n =77) among CD positive patients: symptoms were present in 12/77; a third autoimmune disorder was found in 15 patients. Prevalence of pot-CD in the control population was 8.4% ( n =114; p =0.005). No difference was found with regard to clinical features. Only few symptomatic patients were on GFD both in T1DM and control patients. Conclusions A higher prevalence of pot-CD was found in T1DM patients, that may be ascribed to the routine screening, although the influence of genetic factors cannot be excluded.
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- 2011
9. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
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Massa, O, Iafusco, D, D'Amato, E, Gloyn, Al, Hattersley, At, Pasquino, B, Tonini, G, Dammacco, F, Zanette, G, Meschi, F, Porzio, O, Bottazzo, G, Crinó, A, Lorini, R, Cerutti, Franco, Vanelli, M, Barbetti, F, Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology, and Diabetology
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Male ,Kir6.2 ,KATP channel ,DNA Mutational Analysis ,Infant, Newborn ,PNDM ,Infant ,developmental delay ,Diabetes Mellitus, Type 1 ,neonatal diabetes ,KCNJ11 ,Italy ,Mutation ,Diabetes Mellitus ,Humans ,Female ,Potassium Channels, Inwardly Rectifying - Abstract
Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase (GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM patients. Recently, heterozygous activating mutations of KCNJ11, encoding Kir6.2, the pore forming subunit of the ATP-dependent potassium (K(ATP)) channel of the pancreatic beta-cell, were found in patients with PNDM. Closure of the K(ATP) channel exerts a pivotal role in insulin secretion by modifying the resting membrane potential that leads to insulin exocytosis. We screened the KCNJ11 gene in 12 Italian patients with PNDM (onset within 3 months from birth) and in six patients with non-autoimmune, insulin-requiring diabetes diagnosed during the first year of life. Five different heterozygous mutations were identified: c.149GC (p.R50P), c.175GA (p.V59M), c.509AG (p.K170R), c.510GC (p.K170N), and c.601CT (p.R201C) in eight patients with diabetes diagnosed between day 3 and 182. Mutations at Arg50 and Lys170 residues are novel. Four patients also presented with motor and/or developmental delay as previously reported. We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay. Permanent diabetes of non autoimmune origin can present up to 6 months from birth in individuals with KCNJ11 and EIF2AK3 mutations. Therefore, we suggest that the acronym PNDM be replaced with the more comprehensive permanent diabetes mellitus of infancy (PDMI), linking it to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion between patients with early-onset, autoimmune type 1 diabetes.
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- 2005
10. A Multicenter Retrospective Survey regarding Diabetic Ketoacidosis Management in Italian Children with Type 1 Diabetes
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F. De Berardinis, Fortunato Lombardo, G. Zanette, R. Cardani, Ivana Rabbone, C. Zecchino, Barbara Predieri, C. Arnaldi, Barbara Piccini, B. Felappi, Riccardo Bonfanti, D. Lo Presti, B. Mainetti, G. Ignaccolo, F. Stamati, Roberto Franceschi, G. Ponzi, M. S. Coccioli, F. Citriniti, C. Ripoli, F. Chiarelli, Valeria Calcaterra, M. Trada, Giovanni Federico, A. Sabbion, D. Cirillo, Enza Mozzillo, C. Salvo, Francesco Prisco, G. Piredda, Alessandro Salvatoni, Maurizio Delvecchio, R. A. Taccardi, Valentino Cherubini, Gianluca Tornese, G. Morganti, Giulio Maltoni, Nicola Minuto, Giovanni Chiari, S. Zonca, M. Bensa, Franco Meschi, V. De Donno, Martina Biagioni, Silvia Savastio, L. Guerraggio, A. Gualtieri, T. Suprani, A. Franzese, M. G. Berioli, D. Iafusco, Francesco Cadario, Andrea Scaramuzza, A. Favia, Luciano Beccaria, Gian Vincenzo Zuccotti, Sonia Toni, Riccardo Schiaffini, F. Cerutti, N. Lazzaro, Lorenzo Iughetti, B. Pasquino, Francesco Fontana, P. Banin, G. Cardinale, A. Marsciani, Anna Paola Frongia, S. Lucchesi, E. Schieven, R. Lera, R. De Marco, F. Cardella, F. Gallo, Vittoria Cauvin, P. Sogno Valin, E. Prandi, L. Tomaselli, Vanna Graziani, M Bruzzese, Lorenzo Lenzi, F. Mammì, Giuseppe d'Annunzio, Ippolita Patrizia Patera, Stefano Zucchini, C. Maffeis, A. Bobbio, A. Gaiero, V. Castaldo, Alfonso Galderisi, Stefano Tumini, P Buono, C. Monciotti, Elvira Piccinno, D. Pardi, Marco Cappa, Renata Lorini, Marco Marigliano, Zucchini, Stefano, Scaramuzza, Andrea E, Bonfanti, Riccardo, Buono, Pietro, Cardella, Francesca, Cauvin, Vittoria, Cherubini, Valentino, Chiari, Giovanni, D'Annunzio, Giuseppe, Frongia, Anna Paola, Iafusco, Dario, Maltoni, Giulio, Patera, Ippolita Patrizia, Toni, Sonia, Tumini, Stefano, Tornese, Gianluca, Rabbone, Ivana, Lera, R., Bobbio, A., Gualtieri, A., Piccinno, E., Zecchino, C., Pasquino, B., Felappi, B., Prandi, E., Gallo, F., Morganti, G., Ripoli, C., Cardinale, G., Ponzi, G., Castaldo, V., Stamati, F., Lo Presti, D., Tomaselli, L., Citriniti, F., Suprani, T., Bensa, M., Graziani, V., De Berardinis, F., Chiarelli, F., De Marco, R., Lazzaro, N., De Donno, V., Banin, P., Piccini, B., Lenzi, L., Mainetti, B., Coccioli, M. S., Minuto, N., Lorini, R., Trada, M., Sogno Valin, P., Beccaria, L., Lucchesi, S., Bruzzese, M., Mammì, F., Cirillo, D., Pardi, D., Taccardi, R. A., Lombardo, F., Zuccotti, G. V., Meschi, F., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, Enza., Prisco, F., Cadario, F., Savastio, S., Piredda, G., Monciotti, C., Galderisi, A., Salvo, C., Calcaterra, V., Berioli, M. G., Federico, G., Favia, A., Zanette, G., Marsciani, A., Schiaffini, R., Cappa, M., Delvecchio, M., Gaiero, A., Ignaccolo, G., Cerutti, F., Fontana, F., Guerraggio, L., Zonca, S., Franceschi, R., Tornese, G., Biagioni, M., Salvatoni, A., Cardani, R., Marigliano, M., Sabbion, A., Maffeis, C., Schieven, E., Arnaldi, C., Zucchini, S., Scaramuzza, A. E., Bonfanti, R., Buono, P., Cardella, F., Cauvin, V., Cherubini, V., Chiari, G., D'Annunzio, G., Frongia, A. P., Iafusco, D., Maltoni, G., Patera, I. P., Toni, S., Tumini, S., Rabbone, I., Mammi, F., Mozzillo, E., and Prisco, Francesco
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0301 basic medicine ,Male ,Pediatrics ,Endocrinology, Diabetes and Metabolism ,Endocrinology ,endocrine system diseases ,type 1 diabetes ,Adolescent ,Child ,Child, Preschool ,Diabetes Mellitus, Type 1 ,Diabetic Ketoacidosis ,Female ,Health Care Surveys ,Humans ,Infant ,Infant, Newborn ,Insulin ,Italy ,Rehydration Solutions ,Retrospective Studies ,Treatment Outcome ,lcsh:Diseases of the endocrine glands. Clinical endocrinology ,ketoacidosis ,Retrospective Studie ,Medicine ,Diabetology ,Diabetes and Metabolism ,Newly diagnosed diabetes ,Research Article ,Type 1 ,Human ,medicine.medical_specialty ,Article Subject ,Referral ,Diabetic ketoacidosis ,Diabetic Ketoacidosi ,03 medical and health sciences ,children ,Retrospective survey ,Diabetes mellitus ,Diabetes Mellitus ,Preschool ,Type 1 diabetes ,lcsh:RC648-665 ,business.industry ,Rehydration Solution ,nutritional and metabolic diseases ,Retrospective cohort study ,Newborn ,medicine.disease ,030104 developmental biology ,Health Care Survey ,business - Abstract
We conducted a retrospective survey in pediatric centers belonging to the Italian Society for Pediatric Diabetology and Endocrinology. The following data were collected for all new-onset diabetes patients aged 0–18 years: DKA (pH < 7.30), severe DKA (pH < 7.1), DKA in preschool children, DKA treatment according to ISPAD protocol, type of rehydrating solution used, bicarbonates use, and amount of insulin infused. Records(n=2453)of children with newly diagnosed diabetes were collected from 68/77 centers (87%), 39 of which are tertiary referral centers, the majority of whom (n=1536, 89.4%) were diagnosed in the tertiary referral centers. DKA was observed in 38.5% and severe DKA in 10.3%. Considering preschool children, DKA was observed in 72%, and severe DKA in 16.7%. Cerebral edema following DKA treatment was observed in 5 (0.5%). DKA treatment according to ISPAD guidelines was adopted in 68% of the centers. In the first 2 hours, rehydration was started with normal saline in all centers, but with different amount. Bicarbonate was quite never been used. Insulin was infused starting from third hour at the rate of 0.05–0.1 U/kg/h in 72% of centers. Despite prevention campaign, DKA is still observed in Italian children at onset, with significant variability in DKA treatment, underlying the need to share guidelines among centers.
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- 2016
11. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
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D. Lo Presti, S. Brescianini, T. Suprani, Riccardo Schiaffini, Colin G. Nichols, Riccardo Bonfanti, Lucia Russo, B. Pasquino, D. Iafusco, Ornella Massa, Lorenzo Iughetti, Carla Bizzarri, Corrado Mammì, Valeria Grasso, Carlo Colombo, Fabrizio Barbetti, Franco Meschi, Iafusco, Dario, Massa, O, Pasquino, B, Colombo, C, Iughetti, L, Bizzarri, C, Mammì, C, Lo Presti, D, Suprani, T, Schiaffini, R, Nichols, Cg, Russo, L, Grasso, V, Meschi, F, Bonfanti, R, Brescianini, S, Barbetti, F, and The Early Diabetes Study Group of, Isped
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Male ,Pediatrics ,medicine.medical_specialty ,Neonatal diabetes ,Short Communication ,Endocrinology, Diabetes and Metabolism ,KCNJ11 gene ,ABCC8 gene ,INS gene ,neonatal diabetes ,Reference laboratory ,Infant, Newborn, Diseases ,ABCC8 ,Settore MED/13 - Endocrinologia ,Neonatal diabetes mellitus ,Endocrinology ,Diabetes mellitus ,medicine ,Internal Medicine ,Humans ,Transient neonatal diabetes mellitus ,Permanent neonatal diabetes mellitus ,biology ,business.industry ,Incidence ,Incidence (epidemiology) ,Infant, Newborn ,Infant ,General Medicine ,medicine.disease ,Diabetes Mellitus, Type 1 ,Italy ,Mutation ,biology.protein ,Female ,business ,Live Birth - Abstract
Until early 2000, permanent and transient neonatal diabetes mellitus (NDM), defined as diabetes with onset within 6 weeks from birth that requires insulin therapy for at least 2 weeks, were considered exceedingly rare conditions, with a global incidence of 1:500,000–1:400,000 live births. The new definition of NDM recently adopted, that includes patients with diabetes onset within 6 months of age, has prompted studies that have set the incidence of the permanent form alone between 1:210,000 and 1:260,000 live births. Aim of the present work was to ascertain the incidence of NDM (i.e. permanent + transient form) in Italy for years 2005–2010. Patients referred to the Italian reference laboratory for NDM between years 2005 and 2010 and screened for mutations in common NDM genes (KCNJ11, ABCC8, and INS) and for uniparental isodisomy of chromosome 6 (UDP6) were reviewed. A questionnaire aimed at identifying NDM cases investigated in other laboratories was sent to 54 Italian reference centers for pediatric diabetes. Twenty-seven patients with NDM born between 2005 and 2010 were referred to the reference laboratory. In this group, a mutation of either KCNJ11, ABCC8 or INS was found in 18 patients, and a case with UDP6 was identified. Questionnaires revealed 4 additional cases with transient neonatal diabetes due to UDP6. Incidence of NDM was calculated at 1:90,000 (CI: 1:63,000–1:132,000) live births. Thus, with the definition currently in use, about 6 new cases with NDM are expected to be born in Italy each year.
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