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4. 6128Losartan vs Nebivolol vs the association of both on the progression of aortic root dilation in genotyped Marfan Syndrome: 48 months open label randomized controlled phase III trial

Author

Di Toro, A, primary, Klersy, C, additional, Giuliani, L, additional, Serio, A, additional, Disabella, E, additional, Grasso, M, additional, Smirnova, A, additional, Gambarin, F I, additional, Pasotti, M, additional, Tavazzi, L, additional, Favalli, V, additional, and Arbustini, E, additional

Published
2019
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7. Insulin pump failures in Italian children with Type 1 diabetes: retrospective 1-year cohort study

Author

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.

Subjects
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

8. European Cardiomyopathy Pilot Registry : EURObservational Research Programme of the European Society of Cardiology

Author

Elliott P., Charron P., Blanes J. R. G., Tavazzi L., Tendera M., Konte M., Laroche C., Maggioni A. P., Anastasakis A., Arbustini E., Asselbergs F. W., Axelsson A., Brito D., Caforio A. L. P., Carr-White G., Czekaj A., Damy T., Devoto E., Favalli V., Findlay I., Garcia-Pavia P., Hagege A., Helio T., Iliceto S., Isnard R., Jansweijer J. A., Limongelli G., Linhart A., Cuenca D. L., Mansencal N., McKeown P., Mogensen J., Mohiddin S. A., Monserrat L., Olivotto I., Rapezzi C., Rigopoulos A. G., Rosmini S., Pfeiffer B., Wicks E., Podzimkova J., Kuchynka P., Palecek T., Bundgaard H., Thune J. J., Kumme A., Due Vestergaard L., Hey T., Ollila L., Kaartinen M., Dubourg O., Arslan M., Siam Tsieu M., Guellich A., Tissot C. -M., Guendouz S., Thevenin S., Cheikh Khelifa R., Gandjbakhch E., Komajda M., Neugebauer A., Steriotis A., Ritsatos K., Vlagkouli V., Biagini E., Gentile N., Longhi S., Arretini A., Fornaro A., Cecchi F., Spirito P., Formisano F., Masarone D., Valente F., Pacileo G., Schiavo A., Testolina M., Serio A., Grasso M., Wilde A., Pinto Y., Klopping C., Van Der Heijden J. F., De Jonge N., Sikora-Puz A., Wybraniec M., Francisco A. R., Madeira H., Ortiz-Genga M., Barriales-Villa R., Fernandez X., Lopez-Cuenca D., Gomez-Milanes I., Lopez-Ayala J. M., Guzzo-Merello G., Gallego-Delgado M., Muir A., McOsker J., Jardine T., Iqbal H., Sekhri N., Rajani R., Bueser T., Watkinson O., Cardiology, ACS - Amsterdam Cardiovascular Sciences, ACS - Heart failure & arrhythmias, Perry Elliott, Philippe Charron, Juan Ramon Gimeno Blane, Luigi Tavazzi, Michal Tendera, Marème Konté, Cécile Laroche, Aldo P. Maggioni, the EORP Cardiomyopathy Registry Pilot Investigators: [Aris Anastasaki, Eloisa Arbustini, Folkert W. Asselberg, Anna Axelsson, Dulce Brito, Alida L.P. Caforio, Gerald Carr-White, Agata Czekaj, Thibaud Damy, Emmanuela Devoto, Valentina Favalli, Iain Findlay, Pablo Garcia-Pavia, Albert Hagège, Tiina Heliö, Sabino Iliceto, Richard Isnard, Joeri A. Jansweijer, Giuseppe Limongelli, Ales Linhart, David López Cuenca, Nicolas Mansencal, Pascal McKeown, Jens Mogensen, Saidi A. Mohiddin, Lorenzo Monserrat, Iacopo Olivotto, Claudio Rapezzi, A.G. Rigopoulo, Stefania Rosmini, Barbara Pfeiffer, Eleanor Wicks], Elliott, P., Charron, P., Blanes, J. R. G., Tavazzi, L., Tendera, M., Konte, M., Laroche, C., Maggioni, A. P., Anastasakis, A., Arbustini, E., Asselbergs, F. W., Axelsson, A., Brito, D., Caforio, A. L. P., Carr-White, G., Czekaj, A., Damy, T., Devoto, E., Favalli, V., Findlay, I., Garcia-Pavia, P., Hagege, A., Helio, T., Iliceto, S., Isnard, R., Jansweijer, J. A., Limongelli, G., Linhart, A., Cuenca, D. L., Mansencal, N., Mckeown, P., Mogensen, J., Mohiddin, S. A., Monserrat, L., Olivotto, I., Rapezzi, C., Rigopoulos, A. G., Rosmini, S., Pfeiffer, B., Wicks, E., Podzimkova, J., Kuchynka, P., Palecek, T., Bundgaard, H., Thune, J. J., Kumme, A., Due Vestergaard, L., Hey, T., Ollila, L., Kaartinen, M., Dubourg, O., Arslan, M., Siam Tsieu, M., Guellich, A., Tissot, C. -M., Guendouz, S., Thevenin, S., Cheikh Khelifa, R., Gandjbakhch, E., Komajda, M., Neugebauer, A., Steriotis, A., Ritsatos, K., Vlagkouli, V., Biagini, E., Gentile, N., Longhi, S., Arretini, A., Fornaro, A., Cecchi, F., Spirito, P., Formisano, F., Masarone, D., Valente, F., Pacileo, G., Schiavo, A., Testolina, M., Serio, A., Grasso, M., Wilde, A., Pinto, Y., Klopping, C., Van Der Heijden, J. F., De Jonge, N., Sikora-Puz, A., Wybraniec, M., Francisco, A. R., Madeira, H., Ortiz-Genga, M., Barriales-Villa, R., Fernandez, X., Lopez-Cuenca, D., Gomez-Milanes, I., Lopez-Ayala, J. M., Guzzo-Merello, G., Gallego-Delgado, M., Muir, A., Mcosker, J., Jardine, T., Iqbal, H., Sekhri, N., Rajani, R., Bueser, T., and Watkinson, O.

Subjects
Registrie, Male, Pacemaker, Artificial, Cardiomyopathy, Pilot Projects, 030204 cardiovascular system & hematology, Defibrillator, 0302 clinical medicine, Interquartile range, Residence Characteristics, Dilated, Medicine, 030212 general & internal medicine, Registries, Age of Onset, Non-U.S. Gov't, Research Support, Non-U.S. Gov't, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Middle Aged, Arrhythmogenic right ventricular dysplasia, Europe, Multicenter Study, cardiovascular system, Cardiology, Arrhythmogenic right ventricular, Female, Cardiology and Cardiovascular Medicine, Cardiomyopathies, Human, Adult, medicine.medical_specialty, Registry, Cardiotonic Agents, Restrictive, Observational Study, Research Support, Right ventricular cardiomyopathy, NO, 03 medical and health sciences, Age Distribution, Internal medicine, Journal Article, Humans, Cardiotonic Agent, Pilot Project, cardiovascular diseases, Sex Distribution, Cardiomyopathie, business.industry, Restrictive cardiomyopathy, Hypertrophic, medicine.disease, Death, Sudden, Cardiac, Residence Characteristic, Heart failure, business, Defibrillators
Abstract

AIMS: Cardiomyopathies are a heterogeneous group of disorders associated with premature death due to ventricular arrhythmia or heart failure. The purpose of this study was to examine the characteristics of patients enrolled in the pilot phase of the EURObservational Research Programme (EORP) cardiomyopathy registry. METHODS AND RESULTS: Between 1 December 2012 and 30 November 2013, four cardiomyopathy phenotypes were studied: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). Twenty-seven centres in 12 countries participated; 1115 patients were enrolled. The commonest cardiomyopathy was HCM (n = 681), followed by DCM (n = 346), ARVC (n = 59), and RCM (n = 29); 423 patients (46.4% of those reported) had familial disease; and 56 (5.0%) had rare disease phenocopies. Median age at enrolment and diagnosis was 54 [interquartile range (IQR), 42-64] and 46 years (IQR, 32-58), respectively; fewer patients with ARVC and more with RCM were diagnosed in the upper age quartile (P < 0.0001). There was a male predominance for all cardiomyopathies except RCM (P = 0.0023). Most patients were in New York Heart Association functional class I (n = 813) at enrolment; 139 (12.5%) reported syncope, most frequently in ARVC (P = 0.0009). Five hundred and seven (45.5%) patients underwent cardiac magnetic resonance imaging, 117 (10.6%) endomyocardial biopsy, and 462 (41.4%) genetic testing with a causative mutation reported in 236 individuals (51.1%). 1026 patients (92.0%) were receiving drug therapy; 316 (28.3%) had received an implantable cardioverter defibrillator (highest proportion in ARVC, P < 0.0001). CONCLUSION: This pilot study shows that services for patients with cardiomyopathy are complex, requiring access to a large range of invasive and non-invasive investigations and involvement of multidisciplinary teams. Treatment regimens are equally multifaceted and show that patients are likely to need long-term follow-up in close liaison with expert centres.

Published
2016

9. Analysis of a cohort of pediatric patients treated with continuous subcutaneous insulin infusion

Author

Rubino C., Rigamonti A., Frontino G., Battaglino R., Favalli V., Bonura C., Barera G., Meschi F., Bonfanti R., Rubino, C., Rigamonti, A., Frontino, G., Battaglino, R., Favalli, V., Bonura, C., Barera, G., Meschi, F., and Bonfanti, R.

Subjects
Type 1 diabetes, Insulin pump, Children
Abstract

We analyzed a cohort of pediatric patients with type 1 diabetes mellitus treated with continuous insulin infusion (CSII), followed at the San Raffaele Hospital (Milan, Italy) in the period 2007-2014. We collected data from a questionnaire and from outpatient charts for 206 patients, whose average age was 12.93 years; 93.2% followed our protocol for starting CSII. The drop-out rate was 3.4%. Mean HbA1c was comparable to that of patients on multiple daily injections (MDI) and long-term analysis did not show any significant changes before and after CSII. The incidence of acute complications was low: 1.42 episodes/100 patients/year for severe hypoglycemia (about 50% fewer than in those using MDI), 1.11 episodes/100 patients/year for diabetic ketoacidosis. CSII patients did not gain weight and we found a significant relation between follow-up BMI and HbA1c. There was also a correlation between the use of a vertical cannula and HbA1c reduction. Most of these patients used advanced functions (bolus calculator, temporary basal rates), telemedicine and carbohydrate counting, but only carbohydrate counting was related to the improvement in HbA1c: 60.2% used continuous glucose monitoring (CGM) but here too there was no relation with reduced HbA1c; 53.4% replaced the pump at least once and 41.7% reported malfunctions (no adverse events). The distribution of insulin basal rates differed between age groups 0-6, 7-12, and 13-18 years; this confirms other reports and the advantage of CSII over MDI in children under the age of six. The average number of bolus injections was lower than expected and was not significantly related with HbA1c. CSII is safe and effective. Most studies report no significant improvement in HbA1c, but there is a lower incidence of acute complications. CSII therapy is a mandatory step towards the application of new diabetes technology (artificial pancreas) but further studies need to assess long-term cost and benefits.

Published
2015

10. Hypoglycemia in insulin-dependent diabetic children

Author

Rigamonti A., Favalli V., Bonura C., Frontino G., Barera G., Meschi F., Bonfanti R., Rigamonti, A., Favalli, V., Bonura, C., Frontino, G., Barera, G., Meschi, F., and Bonfanti, R.

Subjects
Type 1 diabetes mellitus, Children, Hypoglycemia
Abstract

Hypoglycemia is a major obstacle to reaching optimal glucose control in type 1 diabetes patients. Diabetic children present a particular situation, with specific symptoms, consequences and treatment. Epidemiological data regarding the incidence of hypoglycemia indicate that pre-school children and adolescents are at higher-than-normal risk. To reduce the risk of hypoglycemia these patients and their caregivers must all be involved. Advances in technology (telemedicine, insulin pumps, continuous glucose monitors, artificial pancreas, etc.) offer additional tools for preventing hypoglycemia and its consequences in pediatric patients.

Published
2015

11. Metabolic control and complications in Italian people with diabetes treated with continuous subcutaneous insulin infusion

Author

Lepore, Giuseppe, primary, Bonfanti, Riccardo, additional, Bozzetto, Lutgarda, additional, Di Blasi, Vincenzo, additional, Girelli, Angela, additional, Grassi, Giorgio, additional, Iafusco, Dario, additional, Laviola, Luigi, additional, Rabbone, Ivana, additional, Schiaffini, Riccardo, additional, Bruttomesso, Daniela, additional, Mammì, F., additional, Bruzzese, M., additional, Schettino, M., additional, Nuzzo, M.G., additional, Di Blasi, V., additional, Fresa, R., additional, Lambiase, C., additional, Iafusco, D., additional, Zanfardino, A., additional, Confetto, S., additional, Bozzetto, L., additional, Annuzzi, G., additional, Alderisio, A., additional, Riccardi, G., additional, Gentile, S., additional, Marino, G., additional, Guarino, G., additional, Zucchini, S., additional, Maltoni, G., additional, Suprani, T., additional, Graziani, V., additional, Nizzoli, M., additional, Acquati, S., additional, Cavani, R., additional, Romano, S., additional, Michelini, M., additional, Manicardi, E., additional, Bonadonna, R., additional, Dei Cas, A., additional, Dall'aglio, E., additional, Papi, M., additional, Riboni, S., additional, Manicardi, V., additional, Pugni, V., additional, Lasagni, A., additional, Street, M.E., additional, Pagliani, U., additional, Rossi, C., additional, Assaloni, R., additional, Brunato, B., additional, Tortul, C., additional, Zanette, G., additional, Li Volsi, P., additional, Zanatta, M., additional, Tonutti, L., additional, Agus, S., additional, Pellegrini, M.A., additional, Ceccano, P., additional, Pozzilli, G., additional, Anguissola, Beretta, additional, Buzzetti, R., additional, Moretti C, C., additional, Leto, G., additional, Pozzilli, P., additional, Manfrini, S., additional, Maurizi, A.R., additional, Leotta, S., additional, Altomare, M., additional, Abbruzzese, S., additional, Carletti, S., additional, Suraci, C., additional, Filetti, S., additional, Manca Bitti, M.L., additional, Arcano, S., additional, Cavallo, M.G., additional, De Bernardinis, M., additional, Pitocco, D., additional, Caputo, S., additional, Rizzi, A., additional, Manto, A., additional, Schiaffini, R., additional, Cappa, M., additional, Benevento, D., additional, Frontoni, S., additional, Malandrucco, I., additional, Morano, S., additional, Filardi, T., additional, Lauro, D., additional, Marini, M.A., additional, Castaldo, E., additional, Sabato, D., additional, Tuccinardi, F., additional, Forte, E., additional, Viterbori, P., additional, Arnaldi, C., additional, Minuto, N., additional, d'Annunzio, G., additional, Corsi, A., additional, Rota, R., additional, Scaranna, C., additional, Trevisan, R., additional, Valentini, U., additional, Girelli, A., additional, Bonfadini, S., additional, Zarra, E., additional, Plebani, A., additional, Prandi, E., additional, Felappi, B., additional, Rocca, A., additional, Meneghini, E., additional, Galli, P., additional, Ruggeri, P., additional, Carrai, E., additional, Fugazza, L., additional, Baggi, V., additional, Conti, D., additional, Bosi, E., additional, Laurenzi, A., additional, Caretto, A., additional, Molinari, C., additional, Orsi, E., additional, Grancini, V., additional, Resi, V., additional, Bonfanti, R., additional, Favalli, V., additional, Bonura, C., additional, Rigamonti, A., additional, Bonomo, M., additional, Bertuzzi, F., additional, Pintaudi, B., additional, Disoteo, O., additional, Perseghin, G., additional, Perra, S., additional, Chiovato, L., additional, De Cata, P., additional, Zerbini, F., additional, Lovati, E., additional, Laneri, M., additional, Guerraggio, L., additional, Bossi, A.C., additional, De Mori, V., additional, Galetta, M., additional, Meloncelli, I., additional, Aiello A, A., additional, Di Vincenzo, S., additional, Nuzzi, A., additional, Fraticelli, E., additional, Ansaldi, E., additional, Battezzati, M., additional, Lombardi, M., additional, Balbo, M., additional, Lera, R., additional, Secco, A., additional, De Donno, V., additional, Cadario, F., additional, Savastio, S., additional, Ponzani, C., additional, Aimaretti, G., additional, Rabbone, I., additional, Ignaccolo, G., additional, Tinti, D., additional, Cerutti, F., additional, Bari, F., additional, Giorgino, F., additional, Piccinno, E., additional, Zecchino, O., additional, Cignarelli, M., additional, Lamacchia, O., additional, Picca, G., additional, De Cosmo, S., additional, Rauseo, A., additional, Tomaselli, L., additional, Tumminia, A., additional, Egiziano, C., additional, Scarpitta, A.M., additional, Maggio, F., additional, Cardella, F., additional, Roppolo, R., additional, Provenzano, V., additional, Fleres, M., additional, Scorsone, A., additional, Scatena, A., additional, Gregori, G., additional, Lucchesi, S., additional, Gadducci, F., additional, Di Cianni, S., additional, Pancani, S., additional, Del Prato, S., additional, Aragona, M., additional, Crisci, I., additional, Calianno, A., additional, Fattor, B., additional, Crazzolara, D., additional, Reinstadler, P., additional, Longhi, S., additional, Incelli, G., additional, Rauch, S., additional, Romanelli, T., additional, Orrasch, M., additional, Cauvin, V., additional, Franceschi, R., additional, Lalli, C., additional, Pianta, A., additional, Marangoni, A., additional, Aricò, C.N., additional, Marin, N., additional, Nogara, N., additional, Simioni, N., additional, Filippi, A., additional, Gidoni Guarneri, G.L., additional, Contin M.L, M.L., additional, Decata, A.P., additional, Bondesan, L., additional, Confortin, L., additional, Coracina, A., additional, Lombardi, S., additional, Costa Padova, S., additional, Cipponeri, E., additional, Scotton, R., additional, Galasso, S., additional, Boscari, F., additional, Zanon, M.S., additional, Vinci, C., additional, Lisato, G., additional, Gottardo, L., additional, Bonora, E., additional, Trombetta, M., additional, Negri, C., additional, Brangani, C., additional, Maffeis, C., additional, Sabbion, A., additional, and Marigliano, M., additional

Published
2018
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12. European cardiomyopathy pilot registry: EURObservational research programme of the European society of cardiology

Author

Elliott, P. Charron, P. Blanes, J.R.G. Tavazzi, L. Tendera, M. Konté, M. Laroche, C. Maggioni, A.P. Anastasakis, A. Arbustini, E. Asselbergs, F.W. Axelsson, A. Brito, D. Caforio, A.L.P. Carr-White, G. Czekaj, A. Damy, T. Devoto, E. Favalli, V. Findlay, I. Garcia-Pavia, P. Hagège, A. Heliö, T. Iliceto, S. Isnard, R. Jansweijer, J.A. Limongelli, G. Linhart, A. Cuenca, D.L. Mansencal, N. McKeown, P. Mogensen, J. Mohiddin, S.A. Monserrat, L. Olivotto, I. Rapezzi, C. Rigopoulos, A.G. Rosmini, S. Pfeiffer, B. Wicks, E. Podzimkova, J. Kuchynka, P. Palecek, T. Bundgaard, H. Thune, J.J. Kumme, A. Due Vestergaard, L. Hey, T. Ollila, L. Kaartinen, M. Dubourg, O. Arslan, M. Siam Tsieu, M. Guellich, A. Tissot, C.-M. Guendouz, S. Thevenin, S. Cheikh Khelifa, R. Gandjbakhch, E. Komajda, M. Neugebauer, A. Pfeiffer, B. Steriotis, A. Ritsatos, K. Vlagkouli, V. Biagini, E. Gentile, N. Longhi, S. Arretini, A. Fornaro, A. Cecchi, F. Spirito, P. Formisano, F. Masarone, D. Valente, F. Pacileo, G. Schiavo, A. Testolina, M. Serio, A. Grasso, M. Wilde, A. Pinto, Y. Klöpping, C. Van Der Heijden, J.F. De Jonge, N. Sikora-Puz, A. Wybraniec, M. Czekaj, A. Francisco, A.R. Brito, D. Madeira, H. Ortiz-Genga, M. Barriales-Villa, R. Fernandez, X. Lopez-Cuenca, D. Gomez-Milanes, I. Lopez-Ayala, J.M. Guzzo-Merello, G. Gallego-Delgado, M. Muir, A. McOsker, J. Jardine, T. Iqbal, H. Sekhri, N. Rajani, R. Bueser, T. Watkinson, O. on behalf of the EORP Cardiomyopathy Registry Pilot Investigators

Abstract

Aims: Cardiomyopathies are a heterogeneous group of disorders associated with premature death due to ventricular arrhythmia or heart failure. The purpose of this study was to examine the characteristics of patients enrolled in the pilot phase of the EURObservational Research Programme (EORP) cardiomyopathy registry. Methods and results: Between 1 December 2012 and 30 November 2013, four cardiomyopathy phenotypes were studied: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). Twenty-seven centres in 12 countries participated; 1115 patients were enrolled. The commonest cardiomyopathy was HCM (n = 681), followed by DCM (n = 346), ARVC (n = 59), and RCM (n = 29); 423 patients (46.4% of those reported) had familial disease; and 56 (5.0%) had rare disease phenocopies. Median age at enrolment and diagnosis was 54 [interquartile range (IQR), 42-64] and 46 years (IQR, 32-58), respectively; fewer patients with ARVC and more with RCM were diagnosed in the upper age quartile (P, 0.0001). There was a male predominance for all cardiomyopathies except RCM (P = 0.0023). Most patients were in New York Heart Association functional class I (n = 813) at enrolment; 139 (12.5%) reported syncope, most frequently in ARVC (P = 0.0009). Five hundred and seven (45.5%) patients underwent cardiac magnetic resonance imaging, 117 (10.6%) endomyocardial biopsy, and 462 (41.4%) genetic testing with a causative mutation reported in 236 individuals (51.1%). 1026 patients (92.0%) were receiving drug therapy; 316 (28.3%) had received an implantable cardioverter defibrillator (highest proportion in ARVC, P, 0.0001). Conclusion: This pilot study shows that services for patients with cardiomyopathy are complex, requiring access to a large range of invasive and non-invasive investigations and involvement of multidisciplinary teams. Treatment regimens are equally multifaceted and show that patients are likely to need long-term follow-up in close liaison with expert centres. © The Author 2015.

Published
2016

19. Età dipendenza dei caratteri di Ghent scheletrici e correlazione genotipo/fenotipo nella sindrome di Marfan

Author

Peschiera, Valeria, Mosconi, Mario, Rossi, Stefano Marco Paolo, Arbustini, Eloisa, Favalli, V., Disabella, E., and Benazzo, Francesco

Abstract

La Sindrome di Marfan è una patologia del tessuto connettivo a penetranza completa, con trasmissione autosomica dominante. L’estrema variabilità fenotipica della patologia è nota; qui è stato dimostrato come possa addirittura presentarsi in soggetti geneticamente identici come i gemelli omozigoti. Il presente studio ha inoltre confermato l’età dipendenza della comparsa dei tratti fenotipici scheletrici, che spesso sono i primi a spingere il paziente ad un iniziale screening per la malattia. La nostra esperienza ha anche mostrato alcune lacune nei criteri diagnostici internazionali di Ghent, che possono mancare la diagnosi, soprattutto nei bambini e negli adolescenti. Questi dati denotano la necessità di uno stretto follow-up nei soggetti con sospetta MFS in età pediatrica e dello sviluppo di nuovi algoritmi diagnostici per la diagnosi precoce, fondamentale per permettere una corretta prevenzione e cura delle complicanze, soprattutto a livello cardiovascolare., Bollettino della Società Medico Chirurgica di Pavia, Vol 122, N° 4 (2009)

Published
2010
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25. Non-contact measurement of carotid arterial stiffness by two-point heart-pulse laser detection

Author

Choi, Bernard, Kollias, Nikiforos, Zeng, Haishan, Kang, Hyun Wook, Wong, Brian J. F., Ilgner, Justus F., Tearney, Guillermo J., Gregory, Kenton W., Marcu, Laura, Skala, Melissa C., Campagnola, Paul J., Mandelis, Andreas, Morris, Michael D., Benedetti, M., Favalli, V., Mariano, A., Rebrova, N., Consoli, A., Ayadi, J., Gilardi, L., Perna, M., Minzioni, P., Arbustini, E., and Giuliani, G.

Published
2016
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26. Supporting Translational Research on Inherited Cardiomyopathies through Information Technology.

Author

Larizza, C., Gabetta, M., Milani, G., Bucalo, M., Mulas, F., Nuzzo, A., Favalli, V., Arbustini, E., and Bellazzi, R.

Subjects
GENETIC testing, INFORMATION technology, DATA warehousing, COMPUTER software, MEDICAL informatics
Abstract

The article presents a study which examines the results of the INHERITANCE project funded by the European Commission which aims to implement information technology solutions to support the research on genetic screening. It notes that several advanced biomedical informatics tools and layer of software instruments were used to support the project team. It cites that the data warehouse of the project was completely established as well as the text mining tools for automatic literature analysis.

Published
2013
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40. Metabolic control and complications in Italian people with diabetes treated with continuous subcutaneous insulin infusion

Author

Giuseppe Lepore, Riccardo Bonfanti, Lutgarda Bozzetto, Vincenzo Di Blasi, Angela Girelli, Giorgio Grassi, Dario Iafusco, Luigi Laviola, Ivana Rabbone, Riccardo Schiaffini, Daniela Bruttomesso, F. Mammì, M. Bruzzese, M. Schettino, M.G. Nuzzo, V. Di Blasi, R. Fresa, C. Lambiase, D. Iafusco, A. Zanfardino, S. Confetto, L. Bozzetto, G. Annuzzi, A. Alderisio, G. Riccardi, S. Gentile, G. Marino, G. Guarino, S. Zucchini, G. Maltoni, T. Suprani, V. Graziani, M. Nizzoli, S. Acquati, R. Cavani, S. Romano, M. Michelini, E. Manicardi, R. Bonadonna, A. Dei Cas, E. Dall'aglio, M. Papi, S. Riboni, V. Manicardi, V. Pugni, A. Lasagni, M.E. Street, U. Pagliani, C. Rossi, R. Assaloni, B. Brunato, C. Tortul, G. Zanette, P. Li Volsi, M. Zanatta, L. Tonutti, S. Agus, M.A. Pellegrini, P. Ceccano, G. Pozzilli, Beretta Anguissola, R. Buzzetti, C. Moretti C, G. Leto, P. Pozzilli, S. Manfrini, A.R. Maurizi, S. Leotta, M. Altomare, S. Abbruzzese, S. Carletti, C. Suraci, S. Filetti, M.L. Manca Bitti, S. Arcano, M.G. Cavallo, M. De Bernardinis, D. Pitocco, S. Caputo, A. Rizzi, A. Manto, R. Schiaffini, M. Cappa, D. Benevento, S. Frontoni, I. Malandrucco, S. Morano, T. Filardi, D. Lauro, M.A. Marini, E. Castaldo, D. Sabato, F. Tuccinardi, E. Forte, P. Viterbori, C. Arnaldi, N. Minuto, G. d'Annunzio, A. Corsi, R. Rota, C. Scaranna, R. Trevisan, U. Valentini, A. Girelli, S. Bonfadini, E. Zarra, A. Plebani, E. Prandi, B. Felappi, A. Rocca, E. Meneghini, P. Galli, P. Ruggeri, E. Carrai, L. Fugazza, V. Baggi, D. Conti, E. Bosi, A. Laurenzi, A. Caretto, C. Molinari, E. Orsi, V. Grancini, V. Resi, R. Bonfanti, V. Favalli, C. Bonura, A. Rigamonti, M. Bonomo, F. Bertuzzi, B. Pintaudi, O. Disoteo, G. Perseghin, S. Perra, L. Chiovato, P. De Cata, F. Zerbini, E. Lovati, M. Laneri, L. Guerraggio, A.C. Bossi, V. De Mori, M. Galetta, I. Meloncelli, A. Aiello A, S. Di Vincenzo, A. Nuzzi, E. Fraticelli, E. Ansaldi, M. Battezzati, M. Lombardi, M. Balbo, R. Lera, A. Secco, V. De Donno, F. Cadario, S. Savastio, C. Ponzani, G. Aimaretti, I. Rabbone, G. Ignaccolo, D. Tinti, F. Cerutti, F. Bari, F. Giorgino, E. Piccinno, O. Zecchino, M. Cignarelli, O. Lamacchia, G. Picca, S. De Cosmo, A. Rauseo, L. Tomaselli, A. Tumminia, C. Egiziano, A.M. Scarpitta, F. Maggio, F. Cardella, R. Roppolo, V. Provenzano, M. Fleres, A. Scorsone, A. Scatena, G. Gregori, S. Lucchesi, F. Gadducci, S. Di Cianni, S. Pancani, S. Del Prato, M. Aragona, I. Crisci, A. Calianno, B. Fattor, D. Crazzolara, P. Reinstadler, S. Longhi, G. Incelli, S. Rauch, T. Romanelli, M. Orrasch, V. Cauvin, R. Franceschi, C. Lalli, A. Pianta, A. Marangoni, C.N. Aricò, N. Marin, N. Nogara, N. Simioni, A. Filippi, G.L. Gidoni Guarneri, M.L. Contin M.L, A.P. Decata, L. Bondesan, L. Confortin, A. Coracina, S. Lombardi, S. Costa Padova, E. Cipponeri, R. Scotton, S. Galasso, F. Boscari, M.S. Zanon, C. Vinci, G. Lisato, L. Gottardo, E. Bonora, M. Trombetta, C. Negri, C. Brangani, C. Maffeis, A. Sabbion, M. Marigliano, Lepore, Giuseppe, Bonfanti, Riccardo, Bozzetto, Lutgarda, Di Blasi, Vincenzo, Girelli, Angela, Grassi, Giorgio, Iafusco, Dario, Laviola, Luigi, Rabbone, Ivana, Schiaffini, Riccardo, Bruttomesso, Daniela, Lepore, G., Bonfanti, R., Bozzetto, L., Di Blasi, V., Girelli, A., Grassi, G., Iafusco, D., Laviola, L., Rabbone, I., Schiaffini, R., Bruttomesso, D., Mammi, F., Bruzzese, M., Schettino, M., Nuzzo, M. G., Fresa, R., Lambiase, C., Zanfardino, A., Confetto, S., Annuzzi, G., Alderisio, A., Riccardi, G., Gentile, S., Marino, G., Guarino, G., Zucchini, S., Maltoni, G., Suprani, T., Graziani, V., Nizzoli, M., Acquati, S., Cavani, R., Romano, S., Michelini, M., Manicardi, E., Bonadonna, R., Dei Cas, A., Dall'Aglio, E., Papi, M., Riboni, S., Manicardi, V., Pugni, V., Lasagni, A., Street, M. E., Pagliani, U., Rossi, C., Assaloni, R., Brunato, B., Tortul, C., Zanette, G., Li Volsi, P., Zanatta, M., Tonutti, L., Agus, S., Pellegrini, M. A., Ceccano, P., Pozzilli, G., Anguissola, B., Buzzetti, R., Moretti C, C., Leto, G., Pozzilli, P., Manfrini, S., Maurizi, A. R., Leotta, S., Altomare, M., Abbruzzese, S., Carletti, S., Suraci, C., Filetti, S., Manca Bitti, M. L., Arcano, S., Cavallo, M. G., De Bernardinis, M., Pitocco, D., Caputo, S., Rizzi, A., Manto, A., Cappa, M., Benevento, D., Frontoni, S., Malandrucco, I., Morano, S., Filardi, T., Lauro, D., Marini, M. A., Castaldo, E., Sabato, D., Tuccinardi, F., Forte, E., Viterbori, P., Arnaldi, C., Minuto, N., D'Annunzio, G., Corsi, A., Rota, R., Scaranna, C., Trevisan, R., Valentini, U., Bonfadini, S., Zarra, E., Plebani, A., Prandi, E., Felappi, B., Rocca, A., Meneghini, E., Galli, P., Ruggeri, P., Carrai, E., Fugazza, L., Baggi, V., Conti, D., Bosi, E., Laurenzi, A., Caretto, A., Molinari, C., Orsi, E., Grancini, V., Resi, V., Favalli, V., Bonura, C., Rigamonti, A., Bonomo, M., Bertuzzi, F., Pintaudi, B., Disoteo, O., Perseghin, G., Perra, S., Chiovato, L., De Cata, P., Zerbini, F., Lovati, E., Laneri, M., Guerraggio, L., Bossi, A. C., De Mori, V., Galetta, M., Meloncelli, I., Aiello A, A., Di Vincenzo, S., Nuzzi, A., Fraticelli, E., Ansaldi, E., Battezzati, M., Lombardi, M., Balbo, M., Lera, R., Secco, A., De Donno, V., Cadario, F., Savastio, S., Ponzani, C., Aimaretti, G., Ignaccolo, G., Tinti, D., Cerutti, F., Bari, F., Giorgino, F., Piccinno, E., Zecchino, O., Cignarelli, M., Lamacchia, O., Picca, G., De Cosmo, S., Rauseo, A., Tomaselli, L., Tumminia, A., Egiziano, C., Scarpitta, A. M., Maggio, F., Cardella, F., Roppolo, R., Provenzano, V., Fleres, M., Scorsone, A., Scatena, A., Gregori, G., Lucchesi, S., Gadducci, F., Di Cianni, S., Pancani, S., Del Prato, S., Aragona, M., Crisci, I., Calianno, A., Fattor, B., Crazzolara, D., Reinstadler, P., Longhi, S., Incelli, G., Rauch, S., Romanelli, T., Orrasch, M., Cauvin, V., Franceschi, R., Lalli, C., Pianta, A., Marangoni, A., Arico, C. N., Marin, N., Nogara, N., Simioni, N., Filippi, A., Gidoni Guarneri, G. L., Contin, M. L M. L., Decata, A. P., Bondesan, L., Confortin, L., Coracina, A., Lombardi, S., Costa Padova, S., Cipponeri, E., Scotton, R., Galasso, S., Boscari, F., Zanon, M. S., Vinci, C., Lisato, G., Gottardo, L., Bonora, E., Trombetta, M., Negri, C., Brangani, C., Maffeis, C., Sabbion, A., Marigliano, M., Lepore, G, Bonfanti, R, Bozzetto, L, Di Blasi, V, Girelli, A, Grassi, G, Iafusco, D, Laviola, L, Rabbone, I, Schiaffini, R, Bruttomesso, D, Mammi, F, Bruzzese, M, Schettino, M, Nuzzo, M, Fresa, R, Lambiase, C, Zanfardino, A, Confetto, S, Annuzzi, G, Alderisio, A, Riccardi, G, Gentile, S, Marino, G, Guarino, G, Zucchini, S, Maltoni, G, Suprani, T, Graziani, V, Nizzoli, M, Acquati, S, Cavani, R, Romano, S, Michelini, M, Manicardi, E, Bonadonna, R, Dei Cas, A, Dall'Aglio, E, Papi, M, Riboni, S, Manicardi, V, Pugni, V, Lasagni, A, Street, M, Pagliani, U, Rossi, C, Assaloni, R, Brunato, B, Tortul, C, Zanette, G, Li Volsi, P, Zanatta, M, Tonutti, L, Agus, S, Pellegrini, M, Ceccano, P, Pozzilli, G, Anguissola, B, Buzzetti, R, Moretti C, C, Leto, G, Pozzilli, P, Manfrini, S, Maurizi, A, Leotta, S, Altomare, M, Abbruzzese, S, Carletti, S, Suraci, C, Filetti, S, Manca Bitti, M, Arcano, S, Cavallo, M, De Bernardinis, M, Pitocco, D, Caputo, S, Rizzi, A, Manto, A, Cappa, M, Benevento, D, Frontoni, S, Malandrucco, I, Morano, S, Filardi, T, Lauro, D, Marini, M, Castaldo, E, Sabato, D, Tuccinardi, F, Forte, E, Viterbori, P, Arnaldi, C, Minuto, N, D'Annunzio, G, Corsi, A, Rota, R, Scaranna, C, Trevisan, R, Valentini, U, Bonfadini, S, Zarra, E, Plebani, A, Prandi, E, Felappi, B, Rocca, A, Meneghini, E, Galli, P, Ruggeri, P, Carrai, E, Fugazza, L, Baggi, V, Conti, D, Bosi, E, Laurenzi, A, Caretto, A, Molinari, C, Orsi, E, Grancini, V, Resi, V, Favalli, V, Bonura, C, Rigamonti, A, Bonomo, M, Bertuzzi, F, Pintaudi, B, Disoteo, O, Perseghin, G, Perra, S, Chiovato, L, De Cata, P, Zerbini, F, Lovati, E, Laneri, M, Guerraggio, L, Bossi, A, De Mori, V, Galetta, M, Meloncelli, I, Aiello A, A, Di Vincenzo, S, Nuzzi, A, Fraticelli, E, Ansaldi, E, Battezzati, M, Lombardi, M, Balbo, M, Lera, R, Secco, A, De Donno, V, Cadario, F, Savastio, S, Ponzani, C, Aimaretti, G, Ignaccolo, G, Tinti, D, Cerutti, F, Bari, F, Giorgino, F, Piccinno, E, Zecchino, O, Cignarelli, M, Lamacchia, O, Picca, G, De Cosmo, S, Rauseo, A, Tomaselli, L, Tumminia, A, Egiziano, C, Scarpitta, A, Maggio, F, Cardella, F, Roppolo, R, Provenzano, V, Fleres, M, Scorsone, A, Scatena, A, Gregori, G, Lucchesi, S, Gadducci, F, Di Cianni, S, Pancani, S, Del Prato, S, Aragona, M, Crisci, I, Calianno, A, Fattor, B, Crazzolara, D, Reinstadler, P, Longhi, S, Incelli, G, Rauch, S, Romanelli, T, Orrasch, M, Cauvin, V, Franceschi, R, Lalli, C, Pianta, A, Marangoni, A, Arico, C, Marin, N, Nogara, N, Simioni, N, Filippi, A, Gidoni Guarneri, G, Contin, M, Decata, A, Bondesan, L, Confortin, L, Coracina, A, Lombardi, S, Costa Padova, S, Cipponeri, E, Scotton, R, Galasso, S, Boscari, F, Zanon, M, Vinci, C, Lisato, G, Gottardo, L, Bonora, E, Trombetta, M, Negri, C, Brangani, C, Maffeis, C, Sabbion, A, and Marigliano, M

Subjects
Blood Glucose, Male, Pediatrics, Acute and chronic complication, Glycated Hemoglobin A, Time Factors, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Medicine (miscellaneous), Ketosi, Infusions, Subcutaneous, Settore MED/13 - Endocrinologia, Acute and chronic complications, Continuous subcutaneous insulin infusion (CSII), Diabetes mellitus, Metabolic control, Nutrition and Dietetics, Cardiology and Cardiovascular Medicine, 0302 clinical medicine, Endocrinology, Adolescent, Adult, Albuminuria, Biomarkers, Child, Cross-Sectional Studies, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Diabetic Nephropathies, Diabetic Retinopathy, Female, Health Care Surveys, Humans, Hypertension, Hypoglycemia, Hypoglycemic Agents, Insulin, Italy, Ketosis, Middle Aged, Risk Factors, Treatment Outcome, Young Adult, Insulin Infusion Systems, 030212 general & internal medicine, Subcutaneous, Diabetic retinopathy, Diabetes and Metabolism, medicine.symptom, Type 2, Human, Type 1, Insulin pump, Infusions, medicine.medical_specialty, Diabetes mellitu, Time Factor, 030209 endocrinology & metabolism, 03 medical and health sciences, medicine, Cross-Sectional Studie, Glycated Hemoglobin, Type 1 diabetes, Hypoglycemic Agent, business.industry, Risk Factor, Biomarker, medicine.disease, Ketoacidosis, Infusions, Subcutaneou, Health Care Survey, Diabetic Nephropathie, business
Abstract

Background and aim: The objective of this cross-sectional study was to evaluate the degree of glycaemic control and the frequency of diabetic complications in Italian people with diabetes who were treated with continuous subcutaneous insulin infusion (CSII). Methods and results: Questionnaires investigating the organisation of diabetes care centres, individuals’ clinical and metabolic features and pump technology and its management were sent to adult and paediatric diabetes centres that use CSII for treatment in Italy. Information on standard clinical variables, demographic data and acute and chronic diabetic complications was derived from local clinical management systems. The sample consisted of 6623 people with diabetes, which was obtained from 93 centres. Of them, 98.8% had type 1 diabetes mellitus, 57.2% were female, 64% used a conventional insulin pump and 36% used a sensor-augmented insulin pump. The median glycated haemoglobin (HbA1c) level was 60 mmol/mol (7.6%). The HbA1c target (i.e. 18 years) was achieved in 43.4% of paediatric and 23% of adult participants. Factors such as advanced pump functions, higher rate of sensor use, pregnancy in the year before the study and longer duration of diabetes were associated with lower HbA1c levels. The most common chronic complications occurring in diabetes were retinopathy, microalbuminuria and hypertension. In the year before the study, 5% of participants reported ≥1 episode of severe hypoglycaemic (SH) episodes (SH) and 2.6% reported ≥1 episode of ketoacidosis. Conclusions: Advanced personal skills and use of sensor-based pump are associated with better metabolic control outcomes in Italian people with diabetes who were treated with CSII. The reduction in SH episodes confirms the positive effect of CSII on hypoglycaemia. Clinical trial registration number: NCT 02620917 (ClinicalTrials.gov).

Published
2018

41. Sensor-augmented pump therapy in very young children with type 1 diabetes: an efficacy and feasibility observational study

Author

Giuseppe Chiumello, Giulio Frontino, Ivana Rabbone, Franco Meschi, Riccardo Bonfanti, Elisa Gioia, Gian Vincenzo Zuccotti, Sabrina Sicignano, Franco Cerutti, Clara Bonura, Roseila Battaglino, Andrea Scaramuzza, Valeria Favalli, Andrea Rigamonti, Frontino, G, Bonfanti, R, Scaramuzza, A, Rabbone, I, Meschi, F, Rigamonti, A, Battaglino, R, Favalli, V, Bonura, C, Sicignano, S, Gioia, E, Zuccotti, Gv, Cerutti, F, Chiumello, G., Frontino, G., Bonfanti, R., Scaramuzza, A., Rabbone, I., Meschi, F., Rigamonti, A., Battaglino, R., Favalli, V., Bonura, C., Sicignano, S., Gioia, E., Zuccotti, G. V., and Cerutti, F.

Subjects
Blood Glucose, Male, Insulin pump, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Biosensing Techniques, Hypoglycemia, Drug Administration Schedule, Insulin Infusion Systems, Endocrinology, Rating scale, Internal medicine, Diabetes mellitus, medicine, Humans, Hypoglycemic Agents, In patient, Child, Retrospective Studies, Glycated Hemoglobin, Type 1 diabetes, Dose-Response Relationship, Drug, business.industry, nutritional and metabolic diseases, Mean age, medicine.disease, Medical Laboratory Technology, Diabetes Mellitus, Type 1, Treatment Outcome, Italy, Child, Preschool, Physical therapy, Feasibility Studies, Female, Observational study, business
Abstract

Background: Efficacy and feasibility of sensor-augmented pump (SAP) therapy were evaluated in very young children with type 1 diabetes (T1D). Subjects and Methods: SAP (Dexcom [San Diego, CA] Seven Plus™ usage combined with insulin pump) therapy was retrospectively evaluated in 28 children (15 boys) younger than 7 years (mean age, 5.8±1.2 years; range, 3–7 years), with T1D. Glycosylated hemoglobin (HbA1c) was evaluated at baseline and at the end of the study, as were efficacy and feasibility of the system, using a rating scale (with 3 being the most positive). Results: SAP has been used for at least 6 months by 85% of patients, with an overall good satisfaction (92%). The greatest perceived benefit was the reduced fear of hypoglycemia (score of 3, 81%). HbA1c significantly improved only in patients with baseline HbA1c >7.5% (P=0.026). Conclusions: SAP therapy is effective and feasible in preschool children with T1D. In patients with high HbA1c at baseline it provide a 0.9% decrease, sustained for...

Published
2012

42. A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients

Author

Carmine Vecchione, Rodolfo Citro, Gennaro Galasso, Costantina Prota, Martina Pucci, Ilaria Radano, Pompea Bottiglieri, Donatella Ferraioli, Valentina Favalli, Federico Pieruzzi, Giuseppe Iuliano, Prota, C, Ferraioli, D, Iuliano, G, Pucci, M, Radano, I, Bottiglieri, P, Favalli, V, Pieruzzi, F, Galasso, G, Vecchione, C, and Citro, R

Subjects
Pathology, medicine.medical_specialty, DNA Mutational Analysis, Left, left venticular hypertrophy, Exons, Fabry Disease, Female, Genetic Predisposition to Disease, Humans, Hypertrophy, Left Ventricular, Middle Aged, Phenotype, Predictive Value of Tests, Ventricular Function, Left, Ventricular Remodeling, alpha-Galactosidase, Echocardiography, Mutation, Missense, Left ventricular hypertrophy, Exon, Gla gene, medicine, Ventricular Function, echocardiography, Missense mutation, GLA gene, business.industry, missense mutation, Hypertrophy, General Medicine, medicine.disease, Fabry disease, Left Ventricular, Predictive value of tests, Mutation, Missense, Cardiology and Cardiovascular Medicine, business
Published
2020

43. Opportunities and Challenges of Telemedicine

Author

Giulio Frontino, Franco Meschi, Riccardo Bonfanti, Valeria Favalli, Andrea Rigamonti, Clara Bonura, Frontino, G., Meschi, F., Rigamonti, A., Favalli, V., Bonura, C., and Bonfanti, R.

Subjects
Telemedicine, business.industry, Endocrinology, Diabetes and Metabolism, 010401 analytical chemistry, 020206 networking & telecommunications, 02 engineering and technology, medicine.disease, 01 natural sciences, 0104 chemical sciences, Medical Laboratory Technology, Endocrinology, 0202 electrical engineering, electronic engineering, information engineering, medicine, Diabetes Mellitus, Humans, Medical emergency, business
Published
2016

44. Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

Author

Alessandra Serio, Andrea Mortara, Mario Viganò, Carlo Campana, Giovanni Piccolo, Nicola Marziliano, Fabiana Isabella Gambarin, Maurizia Grasso, Andrea Pilotto, Michele Pasotti, Eloisa Arbustini, Catherine Klersy, Manuela Agozzino, Maurizio Landolina, Savina Mannarino, Claudio Rapezzi, Oreste Febo, Massimiliano Marini, Antonello Gavazzi, Valentina Favalli, Luigi Tavazzi, Pasotti M, Klersy C, Pilotto A, Marziliano N, Rapezzi C, Serio A, Mannarino S, Gambarin F, Favalli V, Grasso M, Agozzino M, Campana C, Gavazzi A, Febo O, Marini M, Landolina M, Mortara A, Piccolo G, Viganò M, Tavazzi L, and Arbustini E

Subjects
Adult, Cardiomyopathy, Dilated, Male, medicine.medical_specialty, LMNA gene mutation, Gene mutation, Ventricular tachycardia, Article, Sudden cardiac death, LMNA, Risk Factors, Internal medicine, Idiopathic dilated cardiomyopathy, atrioventricular block, medicine, Humans, cardiovascular diseases, Aged, Fibrillation, business.industry, Middle Aged, medicine.disease, Lamin Type A, Prognosis, idiopathic dilated cardiomyopathy, Phenotype, Heart failure, Mutation, Cardiology, cardiovascular system, Female, medicine.symptom, business, Cardiology and Cardiovascular Medicine, Atrioventricular block, Follow-Up Studies
Abstract

Objectives The aim of this study was to analyze the long-term follow-up of dilated cardiolaminopathies. Background Lamin A/C (LMNA) gene mutations cause a variety of phenotypes. In the cardiology setting, patients diagnosed with idiopathic dilated cardiomyopathy (DCM) plus atrioventricular block (AVB) constitute the majority of reported cases. Methods Longitudinal retrospective observational studies were conducted with 27 consecutive families in which LMNA gene defects were identified in the probands, all sharing the DCM phenotype. Results Of the 164 family members, 94 had LMNA gene mutations. Sixty of 94 (64%) were phenotypically affected whereas 34 were only genotypically affected, including 5 with pre-clinical signs. Of the 60 patients, 40 had DCM with AVB, 12 had DCM with ventricular tachycardia/fibrillation, 6 had DCM with AVB and Emery-Dreifuss muscular dystrophy type 2 (EDMD2), and 2 had AVB plus EDMD2. During a median of 57 months (interquartile range 36 to 107 months), we observed 49 events in 43 DCM patients (6 had a later event, excluded from the analysis). The events were related to heart failure (15 heart transplants, 1 death from end-stage heart failure) and ventricular arrhythmias (15 sudden cardiac deaths and 12 appropriate implantable cardioverter-defibrillator interventions). By multivariable analysis, New York Heart Association functional class III to IV and highly dynamic competitive sports for ≥10 years were independent predictors of total events. By a bivariable Cox model, splice site mutations and competitive sport predicted sudden cardiac death. Conclusions Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation.

Published
2008
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45. Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Author

Franco Cerutti, Franco Meschi, C. Monciotti, Ivana Rabbone, Valeria Favalli, Alfonso Galderisi, C. Colombo, Riccardo Bonfanti, Ornella Massa, Dario Iafusco, Fabrizio Barbetti, Enzo Bonora, Sara Gombos, Valeria Grasso, Grasso, V, Colombo, C, Favalli, V, Galderisi, A, Rabbone, I, Gombos, S, Bonora, E, Massa, O, Meschi, F, Cerutti, F, Iafusco, Dario, Bonfanti, R, Monciotti, C, and Barbetti, F.

Subjects
Male, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Gene mutation, Bartter syndrome, Extreme insulin resistance, Severity of Illness Index, Endocrinology, Internal medicine, Bartter's syndrome, Insulin receptor, Mutation, Acanthosis Nigricans, Bartter Syndrome, Child, Preschool, Donohue Syndrome, Female, Humans, Infant, Infant, Newborn, Insulin Resistance, Nephrocalcinosis, Receptor, Insulin, Internal Medicine, medicine, Insulin, Child, Preschool, Acanthosis nigricans, business.industry, General Medicine, medicine.disease, Newborn, Hyperaldosteronism, Diabetes and Metabolism, Bartter’s syndrome, Donohue syndrome, business, Hyperinsulinism, Receptor
Abstract

Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals classified as RMS can reach adult age. INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR). We studied the INSR gene in five subjects with congenital SIR and in a patient with type A SIR. Nine biallelic INSR gene mutations (eight novels, including an in-frame deletion of INSR signal peptide) were identified in patients with congenital SIR; a heterozygous, spontaneous INSR mutation was detected in the patient with type A SIR. Two probands, presenting severe hirsutism at birth, died at the age of 3 months and were classified as DS, while other 2, currently 2 and 3 years old, were diagnosed with RMS (patients 3 and 4). The fifth patient with congenital SIR died when 14 months old. Nephrocalcinosis, hyperaldosteronism, hyperreninemia, and hypokalemia, in the absence of hypertension, were discovered in patients 3 and 5 when 24 and 4 months old, respectively. Patient 3, now 3 years/3 months old, still shows hyperreninemic hyperaldosteronism requiring potassium supplementation. We conclude that renal abnormalities resembling antenatal Bartter's syndrome type II, recently reported also by others, is a common observation in patients with congenital SIR.

Published
2013

46. Management of hyperosmolar hyperglycaemic state in adults with diabetes

Author

Franco Meschi, Riccardo Bonfanti, Giulio Frontino, Valeria Favalli, Andrea Rigamonti, Graziano Barera, Roseila Battaglino, Clara Bonura, Frontino, G., Bonfanti, R., Rigamonti, A., Battaglino, R., Favalli, V., Bonura, C., Meschi, F., and Barera, G.

Subjects
medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, MEDLINE, 030209 endocrinology & metabolism, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Diabetes mellitus, Internal Medicine, Medicine, 030212 general & internal medicine, business, Intensive care medicine
Published
2016

47. Future perspectives in glucose monitoring sensors

Author

Roseila Battaglino, Giuseppe Chiumello, Clara Bonura, Riccardo Bonfanti, Giulio Frontino, Valeria Favalli, Andrea Rigamonti, Giusy Ferro, Franco Meschi, Frontino, G, Meschi, F, Bonfanti, R, Rigamonti, A, Battaglino, R, Favalli, V, Bonura, C, Ferro, G, and Chiumello, G

Subjects
Blood glucose monitoring, medicine.medical_specialty, medicine.diagnostic_test, Diabetic ketoacidosis, Glucose control, Endocrine and Autonomic Systems, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Severe hypoglycemia, Endocrinology, Quality of life (healthcare), Diabetes Blood Glucose Monitoring, Diabetes management, Diabetes mellitus, Medicine, business, Intensive care medicine, Patient compliance
Abstract

The prevalence of diabetes is increasing. Improved glucose control is fundamental to reduce both long-term micro- and macrovascular complications and short-term complications, such as diabetic ketoacidosis and severe hypoglycemia. Frequent blood glucose monitoring is an essential part of diabetes management. However, almost all available blood glucose monitoring devices are invasive. This determines a reduced patient compliance, which in turn reflects negatively on glucose control. Therefore, there is a need to develop noninvasive glucose monitoring devices that will reduce the need of invasive procedures, thus increasing patient compliance and consequently improving quality of life and health of patients with diabetes.

48. A comparative study using insulin pump therapy and continuous glucose monitoring in newly diagnosed very young children with type 1 diabetes: it is possible to bend the curve of HbA1c.

Author

Castorani V, Favalli V, Rigamonti A, Frontino G, Di Tonno R, Morotti E, Sandullo F, Scialabba F, Arrigoni F, Dionisi B, Foglino R, Morosini C, Olivieri G, Barera G, Meschi F, and Bonfanti R

Subjects
Humans, Child, Child, Preschool, Hypoglycemic Agents therapeutic use, Blood Glucose metabolism, Glycated Hemoglobin, Blood Glucose Self-Monitoring, Insulin therapeutic use, Insulin Infusion Systems, Diabetes Mellitus, Type 1 drug therapy
Abstract

Aims: The target of metabolic control (HbA1c < 7% or 53 mmol/mol) recommended by the ADA and ISPAD is attained by 30% of children with Type 1 Diabetes (T1D). Advances in technologies for T1D aim to improve metabolic outcomes and reduce complications. This observational study assesses the long-term outcomes of advanced technologies for treatment of T1D compared to conventional approach started at onset in a group of very young children with T1D., Methods: 54 patients with less 4 years old at onset of T1D were enrolled and followed for up to 9 years after diagnosis. 24 subjects started continuous subcutaneous insulin (CSII) treatment and 30 subjects received MDI therapy from onset. Auxological data, HbA1c and total daily insulin dose (TDD/kg) have been collected at admission and every 4 months. HbA1cAUC>6%, rates of acute complications, glycemic variability indices and glucometrics were also recorded., Results: Patients with CSII therapy had significantly lower mean HbA1c values compared to subjects receiving MDI treatment. CSII approach also recorded lower mean HbA1cAUC>6% and TDD/kg than MDI therapy. At the last download data, the time in range (TIR) was higher in patients with CSII and hyperglycemia events were lower. Better glycemic variability indices have been described during CSII therapy, including mean glycemia, standard deviation, coefficient of variation (CV), glycemia risk index (GRI) and high blood glucose index (HBGI). There was no statistically significant difference between frequency of severe hypoglycemia and ketoacidosis episodes between groups., Conclusions: Early initiation of diabetes technologies is safe and able to determine a better long term glycemic control in young children with T1D. It also allows to flatten the trajectory of HbA1c, probably reducing microvascular, macrovascular and neurological complications of diabetes in this very peculiar age group., (© 2023. Springer-Verlag Italia S.r.l., part of Springer Nature.)

Published
2023
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49. Benchmarking and improving the performance of variant-calling pipelines with RecallME.

Author

Vozza G, Bonetti E, Tini G, Favalli V, Frigè G, Bucci G, De Summa S, Zanfardino M, Zapelloni F, and Mazzarella L

Subjects
Computational Biology, Exome, High-Throughput Nucleotide Sequencing, Benchmarking, Software
Abstract

Motivation: The steady increment of Whole Genome/Exome sequencing and the development of novel Next Generation Sequencing-based gene panels requires continuous testing and validation of variant calling (VC) pipelines and the detection of sequencing-related issues to be maintained up-to-date and feasible for the clinical settings. State of the art tools are reliable when used to compute standard performance metrics. However, the need for an automated software to discriminate between bioinformatic and sequencing issues and to optimize VC parameters remains unmet., Results: The aim of the current work is to present RecallME, a bioinformatic suite that tracks down difficult-to-detect variants as insertions and deletions in highly repetitive regions, thus providing the maximum reachable recall for both single nucleotide variants and small insertion and deletions and to precisely guide the user in the pipeline optimization process., Availability and Implementation: Source code is freely available under MIT license at https://github.com/mazzalab-ieo/recallme. RecallME web application is available at https://translational-oncology-lab.shinyapps.io/recallme/. To use RecallME, users must obtain a license for ANNOVAR by themselves., (© The Author(s) 2023. Published by Oxford University Press.)

Published
2023
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50. Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.

Author

Carrera P, Marzinotto I, Bonfanti R, Massimino L, Calzavara S, Favellato Μ, Jofra T, De Giglio V, Bonura C, Stabilini A, Favalli V, Bondesan S, Cicalese MP, Laurenzi A, Caretto A, Frontino G, Rigamonti A, Molinari C, Scavini M, Sandullo F, Zapparoli E, Caridi N, Bonfiglio S, Castorani V, Ungaro F, Petrelli A, Barera G, Aiuti A, Bosi E, Battaglia M, Piemonti L, Lampasona V, and Fousteri G

Subjects
Humans, Autoimmunity genetics, Pilot Projects, Autoantibodies, Risk Factors, Diabetes Mellitus, Type 1
Abstract

Aims/hypothesis: Islet autoantibodies (AAbs) are detected in >90% of individuals with clinically suspected type 1 diabetes at disease onset. A single AAb, sometimes at low titre, is often detected in some individuals, making their diagnosis uncertain. Type 1 diabetes genetic risk scores (GRS) are a useful tool for discriminating polygenic autoimmune type 1 diabetes from other types of diabetes, particularly the monogenic forms, but testing is not routinely performed in the clinic. Here, we used a type 1 diabetes GRS to screen for monogenic diabetes in individuals with weak evidence of autoimmunity, i.e. with a single AAb at disease onset., Methods: In a pilot study, we genetically screened 142 individuals with suspected type 1 diabetes, 42 of whom were AAb-negative, 27 of whom had a single AAb (single AAb-positive) and 73 of whom had multiple AAbs (multiple AAb-positive) at disease onset. Next-generation sequencing (NGS) was performed in 41 AAb-negative participants, 26 single AAb-positive participants and 60 multiple AAb-positive participants using an analysis pipeline of more than 200 diabetes-associated genes., Results: The type 1 diabetes GRS was significantly lower in AAb-negative individuals than in those with a single and multiple AAbs. Pathogenetic class 4/5 variants in MODY or monogenic diabetes genes were identified in 15/41 (36.6%) AAb-negative individuals, while class 3 variants of unknown significance were identified in 17/41 (41.5%). Residual C-peptide levels at diagnosis were higher in individuals with mutations compared to those without pathogenetic variants. Class 3 variants of unknown significance were found in 11/26 (42.3%) single AAb-positive individuals, and pathogenetic class 4/5 variants were present in 2/26 (7.7%) single AAb-positive individuals. No pathogenetic class 4/5 variants were identified in multiple AAb-positive individuals, but class 3 variants of unknown significance were identified in 19/60 (31.7%) patients. Several patients across the three groups had more than one class 3 variant., Conclusions/interpretation: These findings provide insights into the genetic makeup of patients who show weak evidence of autoimmunity at disease onset. Absence of islet AAbs or the presence of a single AAb together with a low type 1 diabetes GRS may be indicative of a monogenic form of diabetes, and use of NGS may improve the accuracy of diagnosis., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Published
2023
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