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1. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

Author

R, Bonfanti, primary, D, Iafusco, additional, I, Rabbone, additional, G, Diedenhofen, additional, C, Bizzarri, additional, PI, Patera, additional, P, Reinstadler, additional, F, Costantino, additional, V, Calcaterra, additional, L, Iughetti, additional, S, Savastio, additional, A, Favia, additional, F, Cardella, additional, D, Lo Presti, additional, Y, Girtler, additional, S, Rabbiosi, additional, G, D'Annunzio, additional, A, Zanfardino, additional, A, Piscopo, additional, F, Casaburo, additional, L, Pintomalli, additional, L, Russo, additional, V, Grasso, additional, N, Minuto, additional, M, Mucciolo, additional, A, Novelli, additional, A, Marucci, additional, B, Piccini, additional, S, Toni, additional, F, Silvestri, additional, P, Carrera, additional, A, Rigamonti, additional, G, Frontino, additional, M, Trada, additional, D, Tinti, additional, M, Delvecchio, additional, N, Rapini, additional, R, Schiaffini, additional, C, Mammi, additional, and F, Barbetti, additional

Published
2021
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2. THE ROLE OF TECHNOLOGY IN REAL-LIFE AND THE MANAGEMENT OF GLUCOSE VARIABILITY IN CHILDREN AND ADOLESCENTS WITH TYPE 1 DIABETES AND CELIAC DISEASE

Author

By:Maltoni, G, Mozzillo, E, Marigliano, M, Zanfardino, A, Casertano, A, Maffeis, C (Maffeis, C. )( 5 ), Iafusco, D (Iafusco, D. )( 4 ), Zioutas, M, Zucchini, S, By:maltoni, G, Mozzillo, E, Marigliano, M, Zanfardino, A, Casertano, A, Maffeis, C, (Maffei, C., )( 5 ), Iafusco, Dario, D, (Iafusco, D., )( 4 ), Zioutas, M, and Zucchini, S

Published
2020

3. Effectiveness of a closed-loop control system and a virtual educational camp for children and adolescents with type 1 diabetes: A prospective, multicentre, real-life study

Author

Sara Giorda, C. Ripoli, Andrea Rigamonti, Francesco Maria Rosanio, D. Lo Presti, Maria Giulia Berioli, Francesca Redaelli, Barbara Predieri, Marta Bassi, C. Carducci, M. Calandretti, Enza Mozzillo, Davide Tinti, Valentino Cherubini, Marco Marigliano, Riccardo Bonfanti, Claudio Maffeis, Giuseppina Salzano, S. Savastio, Andrea Scaramuzza, Monica Marino, Giulio Maltoni, D. Iafusco, Ivana Rabbone, C. Pigniatiello, Barbara Piccini, Stefano Zucchini, Sonia Toni, M. Trada, V. Tiberi, Fortunato Lombardo, Maurizio Delvecchio, Angela Zanfardino, Rosaria Gesuita, Nicola Minuto, Chiara Mameli, Riccardo Schiaffini, Federico Abate Daga, Elvira Piccinno, M. R. Ricciardi, P. Buzzi, Cherubini, V., Rabbone, I., Berioli, M. G., Giorda, S., Lo Presti, D., Maltoni, G., Mameli, C., Marigliano, M., Marino, M., Minuto, N., Mozzillo, E., Piccinno, E., Predieri, B., Ripoli, C., Schiaffini, R., Rigamonti, A., Salzano, G., Tinti, D., Toni, S., Zanfardino, A., Scaramuzza, A. E., Gesuita, R., Tiberi, V., Savastio, S., Pigniatiello, C., Trada, M., Zucchini, S., Redaelli, F. C., Maffeis, C., Bassi, M., Rosanio, F. M., Delvecchio, M., Buzzi, P., Ricciardi, M. R., Carducci, C., Bonfanti, R., Lombardo, F., Piccini, B., Iafusco, D., Calandretti, M., and Daga, F. A.

Subjects
Blood Glucose, medicine.medical_specialty, Glucose control, Diabetic ketoacidosis, Adolescent, type 1 diabetes, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, continuous glucose monitoring, CSII, glycaemic control, insulin pump therapy, observational study, Target range, Endocrinology, Insulin Infusion Systems, Interquartile range, Diabetes mellitus, Internal medicine, Internal Medicine, medicine, Diabetes Mellitus, Humans, Hypoglycemic Agents, Insulin, Prospective Studies, Child, Type 1 diabetes, Hypoglycemic Agent, type 1 diabete, business.industry, Blood Glucose Self-Monitoring, medicine.disease, Prospective Studie, Diabetes Mellitus, Type 1, Insulin Infusion System, business, Life study, Human, Type 1
Abstract

Aim: To evaluate the impact of a virtual educational camp (vEC) on glucose control in children and adolescents with type 1 diabetes using a closed-loop control (CLC) system. Materials and Methods: This was a prospective multicentre study of children and adolescents with type 1 diabetes using the Tandem Basal-IQ system. Insulin pumps were upgraded to Control-IQ, and children and their parents participated in a 3-day multidisciplinary vEC. Clinical data, glucose metrics and HbA1c were evaluated over the 12 weeks prior to the Control-IQ update and over the 12 weeks after the vEC. Results: Forty-three children and adolescents (aged 7-16 years) with type 1 diabetes and their families participated in the vEC. The median percentage of time in target range (70-180 mg/dL; TIR) increased from 64% (interquartile range [IQR] 56%-73%) with Basal-IQ to 76% (IQR 71%-81%) with Control-IQ (P&nbsp

Published
2021

4. MANAGING PIZZA MARGHERITA WITH INSULIN PUMP. ANALYSIS OF GLUCOSE RESPONSE AFTER CONSUMPTION OF PIZZAS WITH DIFFERENT KINDS OF FERMENTATION, USING A SIMPLE WAVE BOLUS

Author

A. Zanfardino, S. Confetto, A. Cocca, A. S. Rollato, F. Zanfardino, O. Bologna, S. Curto, D. Iafusco, A. Zanfardino, S. Confetto, A. Cocca, A.S. Rollato, F Zanfardino, O. Bologna, S. Curto and D. Iafusco, Zanfardino, A., Confetto, S., Cocca, A., Rollato, A. S., Zanfardino, F., Bologna, O., Curto, S., and Iafusco, D.

Subjects
Diabetes, pizza
Abstract

Background and Aims Pizza is considered a "junk food", because of high content of fat and carbohydrates. The glycaemic response to pizza could change according to the fermentation of the dough. Dual-wave bolus is usually used to manage pizza meal. Aim of our study was to evaluate glycemic response in a pediatric population with T1DM, after consumption of pizzas made with two different kinds of fermentation but the same Italian recipe,with a simple wave bolus. Method We enrolled 18 patients with T1DM on CSSI to evaluate their glycaemic response to the short and the long fermented pizza (less than 8 hours or more than 24 hours). Results We observed that glucose values were between 70 and 180 mg/dl for a good percentage of time in both types of pizza during all the periods of observation. For male patients the mean percentage of time between 70-180 mg/dl, for 2 hours after bolus, was 71% for the first pizza and 95% for the second (p=0·044). Considering the same time window, there was a significant difference as far as percentage of time is concerned for patients with metabolic compensation ”not in target” with SG

Published
2018

5. Young patients with type 1 diabetes poorly controlled and poorly compliant with self-monitoring of blood glucose: can technology help? Results of the i-NewTrend randomized clinical trial

Author

D. Iafusco, Marco Scardapane, Maria Chiara Rossi, Antonio Nicolucci, Paolo Di Bartolo, Valentino Cherubini, Di Bartolo, P., Nicolucci, A., Cherubini, V., Iafusco, D., Scardapane, M., and Rossi, M. C.

Subjects
Blood Glucose, Male, Glycated Hemoglobin A, Endocrinology, Diabetes and Metabolism, Biosensing Techniques, law.invention, 0302 clinical medicine, Endocrinology, Randomized controlled trial, Quality of life, law, Insulin, Age Factor, 030212 general & internal medicine, Young adult, Glucose meter, Age Factors, General Medicine, Telemedicine, Self-monitoring blood glucose, Female, Compliance, Human, Adult, medicine.medical_specialty, Type 1 diabete, Adolescent, 030209 endocrinology & metabolism, Biosensing Technique, Young Adult, 03 medical and health sciences, Internal medicine, Diabetes mellitus, Blood Glucose Self-Monitoring, Internal Medicine, medicine, Humans, Hypoglycemic Agents, Intensive care medicine, Glycated Hemoglobin, Type 1 diabetes, Hypoglycemic Agent, business.industry, medicine.disease, Diabetes Mellitus, Type 1, Quality of Life, Patient Compliance, Observational study, business
Abstract

Aims: To compare iBGStar™+DMApp (experimental meter+telemedicine system) (iBGStar) with a traditional glucose meter (Control) in type 1 diabetes adolescents/young adults. Methods: i-NewTrend was a multicenter, open-label, randomized trial involving subjects aged 14–24years, on basal–bolus insulin, HbA1c≥8.0%, and poorly compliant with SMBG (i.e.

Published
2017
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6. Glucokinase deficit and birthweight: does maternal hyperglycemia always meet fetal needs?

Author

D. Iafusco, Fernanda Iafusco, Enza Mozzillo, Nadia Tinto, Angela Napoli, Adriana Franzese, Camilla Festa, Olimpia Bitterman, Bitterman, O, Tinto, N, Franzese, A, Iafusco, F, Festa, C, Mozzillo, E, Napoli, A, Iafusco, D, Bitterman, Olimpia, Tinto, N., Franzese, A., Iafusco, F., Festa, C., Mozzillo, E., Napoli, A., and Iafusco, D.

Subjects
Male, Pediatrics, Endocrinology, Diabetes and Metabolism, MODY 2, Pregnancy in Diabetics, Fetal growth, Monogenic diabete, Fetal Development, 0302 clinical medicine, Endocrinology, Retrospective Studie, Pregnancy, Glucokinase, Birth Weight, Fetu, Child, diabetes and metabolism, Mother, 030219 obstetrics & reproductive medicine, Gestational age, General Medicine, Gestational diabetes, Phenotype, Gestational diabete, Child, Preschool, Prenatal Exposure Delayed Effects, monogenic diabetes, MODY, Female, gestational diabetes, Human, Adult, medicine.medical_specialty, Mothers, 030209 endocrinology & metabolism, Gestational Age, Pregnancy in Diabetic, Prenatal Exposure Delayed Effect, 03 medical and health sciences, Fetus, Diabetes mellitus, medicine, Internal Medicine, Humans, Hypoglycemic Agents, Retrospective Studies, Hypoglycemic Agent, business.industry, fetal growth, mody, pregnancy, internal medicine, endocrinology, diabetes and metabolism, endocrinology, Infant, Newborn, medicine.disease, Diabetes Mellitus, Type 2, Hyperglycemia, Mutation, Small for gestational age, business
Abstract

Aims: Many authors do not recommend hypoglycemic treatment during pregnancy in women affected by monogenic diabetes due to heterozygous glucokinase (GCK) mutations (MODY 2) in case of affected fetus, because maternal hyperglycemia would be necessary to achieve a normal birthweight. We aimed to evaluate differences in birthweight between MODY 2 affected children according to the parent who carried the mutation. Methods: We retrospectively studied 48 MODY 2 affected children, whose mothers did not receive hypoglycemic treatment during pregnancy, divided into two groups according to the presence of the mutation in the mother (group A) or in the father (group B). Data were extracted from the database of the Regional Centre of Pediatric Diabetology of the University of Campania, Naples, collected from 1996 to 2016. We analyzed birthweight and centile birthweight. Results: Percentage of small for gestational age was significantly higher in group B than in group A. We found three large for gestational age in the group that inherited the deficit from the mother, all with the same novel GCK mutation (p.Lys458-Cys461del). Conclusions: We hypothesize that not all MODY 2 affected fetuses need the same levels of hyperglycemia to have an appropriate growth, maybe because different kinds of GCK mutations may result in different phenotypes. Consequently, a “tailored therapy” of maternal hyperglycemia, based on fetal growth frequently monitored through ultrasounds, is essential in MODY 2 pregnancies.

Published
2018

7. 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

8. Diet management, lifestyle factors and education needs by target attainment in Italian youth with type 1 diabetes from the Global TEENs study

Author

C. Maffeis, S. Toni, D. Iafusco, A. La Loggia, I. Rabbone, S. Tumini, S. Waldron, C. Domenger, F. Calvi-Gries, A. Scaramuzza, TEENs investigator group of ISPED., C. Maffeis, S. Toni, D. Iafusco, A. La Loggia, I. Rabbone, S. Tuini, S. Waldron, C. Domenger, F. Calvi-Gries, A.Scaramuzza, TEENs Investigator Group of ISPED, Maffeis, C., Toni, S., Iafusco, D., La Loggia, A., Rabbone, I., Tumini, S., Waldron, S., Domenger, C., Calvi-Gries, F., Scaramuzza, A., and Isped., TEENs investigator group of

Abstract

Background and aims: TEENs is an international, cross-sectional observational study, conducted in 20 countries in order to assess T1D management and psychosocial parameters in 8-25-year-olds (y/o). Data on diet management, lifestyle factors and education needs by target HbA1c attainment from the Italian cohort are reported. Materials and methods: Data were collected at 23 centres by participant interview, medical record review and participant/parent survey from 1,009 Italian youth (46% female) in three age groups: 8-12 y/o (n=330), 13-18 y/o (n=490), and 19-25 y/o (n=189). HbA1c was measured uniformly using A1cNow™ with target HbA1c defined as 18 y/o (ADA). Results: Overall, 40% of participants met HbA1c targets. Measuring food intake based on experience was the most common method used by all age groups, followed by carbohydrate counting (Table). Of the participants who used carbohydrate counting, a higher percentage met target HbA1c than did not in all age groups, with a significant effect on target attainment due to carbohydrate counting compared with other methods observed in 13-18 y/o (p=0.035). Avoiding sugars was the least common method used in all age groups. Across all age groups, participants who did not undertake any exercise were numerically less likely to reach HbA1c target; on the contrary, participants who exercised 1-2 days/week were numerically more likely to reach HbA1c target. Performing exercise had a significant effect on target HbA1c attainment in 8-12 y/o (p=0.012). The majority of participants were in the underweight/normal body mass index (BMI) category in all age groups, with no clear pattern between BMI class and the proportion of patients reaching HbA1c target. Participants of all ages commonly requested education on diet, carbohydrate counting, how to manage T1D during illness, and how to manage blood glucose levels with exercise. Conclusion: Carbohydrate counting and exercising at least twice per week help to attain HbA1c target across all age groups. Assessment of lifestyle factors suggests that efforts targeting carbohydrate counting and exercise could promote successful health outcomes and help more patients with T1D to reach the recommended HbA1c target. Supported by: Sanofi

Published
2015

9. Diabete tipo 2 e obesità pediatrica: rassegna a cura dei Gruppi di Studio Obesità Infantile e Diabete della Società Italiana di Endocrinologia e Diabetologia Pediatrica

Author

G. Valerio, M. R. Licenziati, F. Barbetti, A. Blasetti, M. Bruzzese, P. Buono, F. Cardella, F. Cerutti, G. D’Annunzio, P. Di Bonito, D. Iafusco, L. Iughetti, C. Maffeis, M. Manco, E. Miraglia del Giudice, A. Morandi, E. Mozzillo, B. Predieri, R. Schiaffini, M. E. Street, F. Lombardo, I. Rabbone, Società Italiana di Endocrinologia e Diabetologia Pediatrica, Valerio, G., Licenziati, M. R., Barbetti, F., Blasetti, A., Bruzzese, M., Buono, P., Cardella, F., Cerutti, F., D’Annunzio, G., Di Bonito, P., Iafusco, D., Iughetti, L., Maffeis, C., Manco, M., Miraglia del Giudice, E., Morandi, A., Mozzillo, E., Predieri, B., Schiaffini, R., Street, M. E., Lombardo, F., Rabbone, I., and e Diabetologia Pediatrica, Società Italiana di Endocrinologia

Abstract

L’obesità pediatrica è una condizione a elevato rischio di alterazioni del metabolismo glicidico, che con il tempo possono evolvere in diabete tipo 2 (T2D). Tali condizioni, prevalentemente caratterizzate in età pediatrica da alterata glicemia a digiuno e/o ridotta tolleranza al glucosio, sono definite come “prediabete”. Un panel di esperti dei gruppi di studio Obesità Infantile e Diabete della Società Italiana di Endocrinologia e Diabetologia pediatrica ha condotto una revisione delle più recenti evidenze scientifiche sulla condizione di prediabete e di diabete tipo 2 nell’obesità pediatrica. In questa rassegna sono descritti i fattori di rischio del prediabete e del T2D, l’epidemiologia, la diagnosi, il trattamento, le complicanze associate e la prevenzione. La prevenzione e la cura dell’obesità pediatrica rappresentano obiettivi di fondamentale importanza al fine di ridurre le alterazioni del metabolismo glicidico associate. Studi futuri dovranno identificare marcatori predittivi di T2D, in aggiunta al dato anamnestico della familiarità, che rimane di grande supporto per tale diagnosi.

Published
2017

10. A Multicenter Retrospective Survey regarding Diabetic Ketoacidosis Management in Italian Children with Type 1 Diabetes

Author

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

Subjects
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.

Published
2016

11. Survey on the use of insulin pumps in Italy: comparison between pediatric and adult age groups (IMITA study)

Author

D. Iafusco, Giorgio Grassi, Lutgarda Bozzetto, Daniela Bruttomesso, V. De Blasi, Angela Girelli, Giuseppe Lepore, A. Corsi, Riccardo Schiaffini, Luigi Laviola, Ivana Rabbone, Riccardo Bonfanti, Bonfanti, R, Lepore, G., Bozzetto, L., Corsi, A., Di Blasi, V., Girelli, A., Grassi, G., Iafusco, Dario, Rabbone, I., Schiaffini, R., Laviola, L., Bruttomesso, D., Lepore, G, Bozzetto, Lutgarda, Corsi, A, Di Blasi, V, Girelli, A, Grassi, G, Rabbone, I, Schiaffini, R, Laviola, L, Bonfanti, R., and Iafusco, D.

Subjects
Male, Pediatrics, Patient demographics, medicine.medical_treatment, Endocrinology, Diabetes and Metabolism, Diabete, Adult age, 0302 clinical medicine, Endocrinology, Quality of life, Surveys and Questionnaires, T1DM, Surveys and Questionnaire, Age Factor, 030212 general & internal medicine, Use of technology, Child, Children, Patient, Diabetes, Age Factors, Pediatric age, Diabetes Mellitu, General Medicine, Italy, Child, Preschool, Female, Bolus (digestion), Human, Adult, medicine.medical_specialty, Patients, Adolescent, 030209 endocrinology & metabolism, Pumps, 03 medical and health sciences, Insulin Infusion Systems, Diabetes mellitus, Diabetes Mellitus, medicine, Internal Medicine, Humans, business.industry, CGM, Insulin, CSII, Pump, medicine.disease, Insulin Infusion System, business
Abstract

Aims: The aim of the study was to evaluate and compare continuous subcutaneous insulin infusion (CSII) use in pediatric and adult age groups. Methods: Data were collected with a questionnaire sent by e-mail to CSII-experienced Diabetes Centers. The questionnaire assessed: (1) number of CSII-treated patients; (2) patient demographic data and characteristics; (3) structure and organization of Diabetes Centers providing CSII therapy; (4) pump characteristics (conventional pump, sensor-augmented pump); and (5) CSII dropouts. Results: A total of 217 out of 1093 Italian centers participated: 51 pediatric (23.5%) and 166 (76.5%) adult centers (AP). Compared to a survey performed in 2005, there was a significant increase in the number of pediatric units when compared to adult units (112 vs 37%, respectively, p&nbsp

Published
2016

12. A dizygotic twin pregnancy in a MODY 3-affected woman

Author

Olimpia Bitterman, Nadia Tinto, Angela Napoli, D. Iafusco, F Torcia, Bitterman, O, Iafusco, Dario, Torcia, F., Tinto, Nadia, Napoli, A., and Tinto, N.

Subjects
0301 basic medicine, Adult, medicine.medical_specialty, Pediatrics, MODY 1, Twin pregnancy, Endocrinology, Diabetes and Metabolism, MODY 3, Pregnancy in Diabetics, 030209 endocrinology & metabolism, HNF-1α, Hypoglycemia, Gene mutation, Pregnancy in Diabetic, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Pregnancy, Internal medicine, Diabetes mellitus, hypoglycemia, twin pregnancy, medicine, Internal Medicine, Humans, Hepatocyte Nuclear Factor 1-alpha, Twin Pregnancy, business.industry, Neonatal hypoglycemia, General Medicine, medicine.disease, 030104 developmental biology, Diabetes Mellitus, Type 2, Female, Pregnancy, Multiple, business, Human
Abstract

BACKGROUND: MODY diabetes includes rare familiar forms due to genetic mutations resulting in β-cell dysfunction. MODY 3 is due to mutations in the gene transcription factor HNF-1α, with diabetes diagnosis in adolescence or early adult life. Few data are available about MODY 3 in pregnancy. CASE REPORT: A 36-year-old Italian woman came to our unit at the 5th week of pregnancy. She was diagnosed with diabetes at 18 years, with negative autoimmunity and a strong familiarity for diabetes. She was treated with gliclazide and metformin. She had a previous pregnancy in which she was treated with insulin, giving birth at 38 weeks to a 3.210 kg baby girl, who showed neonatal hypoglycemia. We switched her to insulin treatment according to guidelines. We asked for genetic molecular testing, resulting in a HNF-1α gene mutation. A US examination at 7 weeks revealed a twin, bicorial, biamniotic pregnancy. At 37 weeks of gestation, she gave birth to two normal-weight baby girls; only one showed neonatal hypoglycemia and a genetic test revealed that she was affected by HNF-1α gene mutation. Subsequently, entire family of the woman was tested, showing that the father, the sister and the first daughter had the same HNF-1α mutation. DISCUSSION: A MODY 3 foetus needs a near-normal maternal glycemic control, because the exposure to intrauterine hyperglycemia can lead to an earlier age of diabetes onset. Neonatal hypoglycemia is generally observed in MODY 1 infants, but it is possible to hypothesize that some HNF-1α mutations could lead to a functionally impaired protein that might dysregulate HNF-4α expression determining hypoglycemia.

Published
2016

13. Infant and Toddler Type 1 Diabetes: Complications after 20 years' duration

Author

SALARDI, SILVANA, M. Porta, MALTONI, GIULIO, F. Rubbi, S. Rovere, F. Cerutti, D. Iafusco, S. Tumini, V. Cauvin, S. Salardi, M. Porta, G. Maltoni, F. Rubbi, S. Rovere, F. Cerutti, D. Iafusco, S. Tumini, and V. Cauvin

Subjects
DIABETE
Abstract

BACKGROUND: Sensor-augmented continuous subcutaneous insulin infusion (CSII) therapy is superior to CSII therapy alone, but little is known on the effectiveness of sensor-augmented multiple daily injections (MDI) therapy. METHODS: We compared during everyday life mean glucose control and several variability indexes recorded for 3 days by a real-time glucose sensor (Medtronic, Northridge, CA) in two groups of children treated with either CSII or MDI. Fifty-five consecutive subjects were examined: 17 receiving CSII and 38 receiving MDI basal-bolus therapy (age range, 7-22 years). All subjects wore the sensor for 4 days, and 3 days were used for statistical analysis. Mean glucose and SD, coefficient of variation (CV), mean amplitude of glucose excursion (MAGE), mean of daily differences (MODD), continuous overall net glycemic action (CONGA) at 2 and 4 h, blood glucose (BG) rate, area under the curve (AUC) above 180 mg/dL and below 70 mg/dL, Low BG Index (LBGI), and High BG Index (HBGI) were calculated. RESULTS: Patients receiving CSII administered more daily boluses than patients receiving MDI (5.2±1.5 vs. 3.2±0.3, respectively; P=0.001). Mean glucose was lower in the CSII group. AUC above 180 mg/dL and HBGI were higher in the MDI group. CV, CONGA at 2 h, CONGA at 2 h during the day, and HBGI were worse in the MDI group, whereas MODD, LBGI, BG rate, and MAGE were similar. A positive correlation (r=0.95; P

Published
2012

14. Epidemiology of GCK mutations in diabetic children from South Italy

Author

CAPUANO, MARINA, ZAGARI, ADRIANA, CARLUCCIO, CARLA, TINTO, NADIA, COLA, ARTURO, FRANZESE, ADRIANA, SACCHETTI, LUCIA, C. M. GARCIA HERRERO, V. CAPOBIANCO, I. COTO, A. GALDERISI, D. IAFUSCO, N. MARIA ANGELES, FEBS Commettee, Capuano, Marina, C. M., GARCIA HERRERO, Zagari, Adriana, Carluccio, Carla, Tinto, Nadia, V., Capobianco, I., Coto, Cola, Arturo, A., Galderisi, Franzese, Adriana, D., Iafusco, N., MARIA ANGELES, and Sacchetti, Lucia

Published
2011

15. Comparative Efficacy of iBGStar™ Glucose Meter vs. A Traditional Glucose Meter in Type 1 Diabetes

Author

D. Iafusco, Valentino Cherubini, Fabio Pellegrini, Antonio Nicolucci, Paolo Di Bartolo, and Maria Chiara Rossi

Subjects
Type 1 diabetes, medicine.medical_specialty, endocrine system diseases, business.industry, Glucose meter, Insulin, medicine.medical_treatment, nutritional and metabolic diseases, medicine.disease, Quality of life, Metabolic control analysis, Diabetes mellitus, Emergency medicine, medicine, Outpatient clinic, Observational study, business
Abstract

Background: Optimal metabolic control and compliance to self-monitoring of blood glucose (SMBG) are poor in adolescents and young adults with type 1 diabetes mellitus (T1DM), and may require innovative management strategies. These may include the use of telemedicine and smartphone-linked blood glucose self-monitoring systems. To this purpose, a specific glucose meter (iBGStar™) and a dedicated Diabetes Manager Application (DMApp) have been developed. Aim of the study is to demonstrate the superiority of a smartphone-linked versus a traditional self-monitoring system in reducing HbA1c levels and improving compliance to SMBG. Methods/Design: The “i-NewTrend” study is an open-label, randomized (1:1) trial involving 21 diabetes outpatient clinics in Italy. Overall, 178 subjects aged 14–24 years with type 1 diabetes, with any diabetes duration, HbA1c ≥8%, treated with basal-bolus insulin regimen, and with poor compliance with SMBG will be randomized to two different SMBG strategies: Group A will use iBGStar™+ DMApp and Group B (control group) will use a traditional meter for SMBG during a 6-month follow-up (experimental phase). Between-group differences on metabolic control, compliance to SMBG, insulin doses, quality of life, risk of hypoglicaemic episodes and number and type of contacts with diabetes clinics will be evaluated. During a 6 month post-trial observational phase, all randomized patients in group A and B will use iBGStar™ + DMApp to evaluate the impact of the system on all the outcomes when the system is used under routine clinical practice conditions. Discussion: Results of the trial iNew Trend will assess whether and to what extent this new strategy of SMBG based on the use of iBGStar™ + DMApp will improve the management of type 1 diabetes in adolescents and young adults poorly controlled and poorly compliant, both in experimental and usual care settings.

Published
2014
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16. Cytogenetic effects induced by extremely low frequency pulsed magnetic fields in lymphocytes from Turner's syndrome subjects

Author

Claudio Franceschi, R. Di Pietro, M. Della Noce, Maria Brigida Lioi, Maria Rosaria Scarfì, F. Prisco, Ferdinando Bersani, M. Motta, Olga Zeni, D. Iafusco, Scarfi, M. R., Prisco, F., Lioi, M. B., Zeni, O., Della Noce, M., Di Pietro, R., Franceschi, C., Iafusco, D., Motta, M., and Bersani, F.

Subjects
Genotoxic effect, Proliferation index, Cytokinesis- block micronucleus assay, Biophysics, In vitro exposure, Biology, Turner's syndrome, Peripheral blood, Pulsed magnetic field, Immunology, Micronucleus test, Electrochemistry, Physical and Theoretical Chemistry, Pathological
Abstract

The cytokinesis-block micronucleus assay was applied to evaluate the genotoxic effect of in vitro exposure to extremely low frequency pulsed magnetic fields on peripheral blood lymphocytes from 10 subjects aged between 3 and 24 years and affected by Turner's syndrome, in comparison with 8 healthy donors aged between 3 and 22 years. We report a significant (p

Published
1997
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17. Combined therapy with insulin and rGH in thirteen Italian patients with type 1 diabetes (T1DM) and growth disorders

Author

S. , Zucchini, G. , Pozzobon, R. , Bonfanti, S. , Vannelli, I. , Rabbone, M. , Maghnie, C. , Bizzarri, S. , Tumini, L. , Lenzi, M. C. , Maggio, D. , Iafusco, M. , Marigliano, V. , Cherubini, Iughetti, Lorenzo, Zucchini, S., Pozzobon, G., Bonfanti, R., Vannelli, S., Rabbone, I., Maghnie, M., Bizzarri, C., Tumini, S., Lenzi, L., Maggio, M. C., Iafusco, D., Marigliano, M., Cherubini, V., and Lorenzo, Iughetti

Published
2012

18. Eating disorders and diabetic ketoacidosis in a pregnant woman with type 1 diabetes: A case report

Author

V. Toscano, G. Merola, A. Napoli, D. Iafusco, A. Colatrella, M. Framarino, V. Talucci, Trappolini M, Napoli, A, Framarino, M, Colatrella, A, Merola, G, Trappolini, M, Toscano, V, Talucci, V, and Iafusco, Dario

Subjects
Adult, Insulin pump, Pediatrics, medicine.medical_specialty, endocrine system diseases, Diabetic ketoacidosis, Pregnancy in Diabetics, eating disorders, Feeding and Eating Disorders, diabetic ketoacidosis, Diabetes mellitus, Humans, Medicine, Disordered eating, type 1 diabetes mellitus, pregnancy, insulin pump, Type 1 diabetes, Pregnancy, business.industry, nutritional and metabolic diseases, medicine.disease, Surgery, Psychiatry and Mental health, Clinical Psychology, Eating disorders, Diabetes Mellitus, Type 1, Gestation, Female, business
Abstract

OBJECTIVE: To describe a case of diabetic ketoacidosis (DKA) in a pregnant woman with type 1 diabetes (T1DM) and disordered eating behaviour treated with a continuous subcutaneous insulin infusion, and to discuss some aspects of the monitoring and management of DKA in pregnancy and whether a pump is the safest therapeutic choice in the presence of some eating disorders. CASE REPORT: This 26-year-old Caucasian woman affected by T1DM was hospitalised during the last weeks of her fourth pregnancy because of DKA due to disordered eating. She was treated with a fluid infusion, intravenous insulin, and her electrolyte imbalance was carefully corrected. An elective cesarean section was performed after the correction of DKA in the 34th week (+6 days) of gestation. CONCLUSIONS: We suggest that pregnancy in T1DM women with eating disorders may not be rare. The prevention, early recognition and aggressive management of DKA can minimise the possible complications, and is mandatory for the safety of the fetus and mother.

Published
2011

19. Quality of life and treatment satisfaction in adults with Type 1 diabetes: a comparison between continuous subcutaneous insulin infusion and multiple daily injections

Author

A. Nicolucci, A. Maione, M. Franciosi, R. Amoretti, E. Busetto, F. Capani, D. Bruttomesso, P. Di Bartolo, A. Girelli, F. Leonetti, L. Morviducci, P. Ponzi, E. Vitacolonna, L. V. Cassano, N. Tota, V. Cherubini, A. Iannilli A. Corsi, P. Ponzani, V. Montani, P. Di Berardino, M. Velussi, F. Giorgino, V. Gigantelli, G. Beltramello, A. Pianta, R. Trevisan, G. Lepore, G. Forlani, G. Marchesini, D. Crazzolara, M. Marchesi, E. Zarra, B. Agosti, G. Careddu, L. Tomaselli, R. Vigneri, M. Agrusta, V. Di Blasi, S. Tumini, M. T. Anzellotti, P. Ruggeri, P. Foglini, M. Rossana, A Murri, S. Toni, M. F. Reali, M. Nizzoli, S. Aquati, G. d’Annunzio, N. Minuto, L. Cataldi, C. Bordone, R. Iannarelli, F. Sciarretta, M. Tagliaferri, M. A. Lezzi, L. Sciangula, A. Ciucci, M. Bonomo, E. Meneghini, G. Mariani, P. Colapinto, G. Testori, P. Rampini, R. Bonfanti, F. Meschi, G. Galimberti, A. Laurenzi, A. Veronelli, C. Mauri, C. Tortul, A. M. Cernigoi, M. E. De Feo, M. Piscopo, G. Annuzzi, L. Bozzetto, A. Franzese, P. Buono, S. Turco, A. Turco, F. Prisco, D. Iafusco, M. Trovati, P. Massucco, S. Costa, M, V. Provenzano, L. Strazzera, G. Ridola, E. Torlone, M. Orsini Federici, A. Bertolotto, M. Aragona, F. Pellicano, V. Manicardi, M. Michelini, M. Parenti, A. C. Babini, P. Borboni, A. Di Flaviani, M. L. Manca Bitti, S. Piccinini, A. Clementi, C. Tubili, C. Suraci, S. Carletti, A. Moretti, M. Maiello, V. C. Iannucci, N. Sulli, B. Shashaj, D. Fava, F. Massimiani, P. Pozzilli, S. Manfrini, C. Landi, I. Tanganelli, G. Grassi, M. Tomelini, R. De Luca, L. Corgiat Mansin, R. Candido, E. Manca, L. Tonutti, C. Noacco, I. Franzetti, P. Marnini., Nicolucci, A., Maione, A., Franciosi, M., Amoretti, R., Busetto, E., Capani, F., Bruttomesso, D., Di Bartolo, P., Girelli, A., Leonetti, F., Morviducci, L., Ponzi, P., Vitacolonna, E., Cassano, L. V., Tota, N., Cherubini, V., Corsi, A. Iannilli A., Ponzani, P., Montani, V., Di Berardino, P., Velussi, M., Giorgino, F., Gigantelli, V., Beltramello, G., Pianta, A., Trevisan, R., Lepore, G., Forlani, G., Marchesini, G., Crazzolara, D., Marchesi, M., Zarra, E., Agosti, B., Careddu, G., Tomaselli, L., Vigneri, R., Agrusta, M., Di Blasi, V., Tumini, S., Anzellotti, M. T., Ruggeri, P., Foglini, P., Rossana, M., Murri, A, Toni, S., Reali, M. F., Nizzoli, M., Aquati, S., D’Annunzio, G., Minuto, N., Cataldi, L., Bordone, C., Iannarelli, R., Sciarretta, F., Tagliaferri, M., Lezzi, M. A., Sciangula, L., Ciucci, A., Bonomo, M., Meneghini, E., Mariani, G., Colapinto, P., Testori, G., Rampini, P., Bonfanti, R., Meschi, F., Galimberti, G., Laurenzi, A., Veronelli, A., Mauri, C., Tortul, C., Cernigoi, A. M., De Feo, M. E., Piscopo, M., Annuzzi, G., Bozzetto, L., Franzese, A., Buono, P., Turco, S., Turco, A., Prisco, F., Iafusco, D., Trovati, M., Massucco, P., Costa, S., M, Provenzano, V., Strazzera, L., Ridola, G., Torlone, E., Orsini Federici, M., Bertolotto, A., Aragona, M., Pellicano, F., Manicardi, V., Michelini, M., Parenti, M., Babini, A. C., Borboni, P., Di Flaviani, A., Manca Bitti, M. L., Piccinini, S., Clementi, A., Tubili, C., Suraci, C., Carletti, S., Moretti, A., Maiello, M., Iannucci, V. C., Sulli, N., Shashaj, B., Fava, D., Massimiani, F., Pozzilli, P., Manfrini, S., Landi, C., Tanganelli, I., Grassi, G., Tomelini, M., De Luca, R., Corgiat Mansin, L., Candido, R., Manca, E., Tonutti, L., Noacco, C., Franzetti, I., and Marnini., P.

Subjects
multiple daily injections, Insulin pump, Adult, Male, medicine.medical_specialty, Continuous subcutaneous insulin infusion, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Injections, Subcutaneous, Insulin Glargine, Endocrinology, Patient satisfaction, Insulin Infusion Systems, Quality of life, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Humans, Hypoglycemic Agents, Insulin, Multiple daily injection, continuous subcutaneous insulin infusion, quality of life, questionnaires, type 1 diabetes, Type 1 diabetes, Questionnaire, Insulin glargine, business.industry, Middle Aged, medicine.disease, Obesity, Surgery, Insulin, Long-Acting, Diabetes Mellitus, Type 1, Patient Satisfaction, Quality of Life, Female, business, Epidemiologic Methods, medicine.drug
Abstract

Aims The aim of this case–control study was to compare quality of life (QoL) and treatment satisfaction in adults with Type 1 diabetes (T1DM) treated with either continuous subcutaneous insulin infusion (CSII) or multiple daily injections (MDI). Methods Consecutive patients aged between 18 and 55 years, and attending diabetes clinics for a routine visit, completed the Diabetes-Specific Quality-of-Life Scale (DSQOLS), the Diabetes Treatment Satisfaction Questionnaire (DTSQ) and the SF-36 Health Survey (SF-36). Case (CSII) and control subjects (MDI) were recruited in a 1 : 2 ratio. Results Overall, 1341 individuals were enrolled by 62 diabetes clinics; 481 were cases and 860 control subjects. Cases had a longer diabetes duration and were more likely to have eye and renal complications. Age, school education, occupation and HbA 1c were similar. Of control subjects, 90% followed glargine-based MDI regimens and 10% used NPH-based MDI regimens. On multivariate analysis, after adjusting for socioeconomic and clinical characteristics, scores in the following areas of the DSQOLS were higher in cases than control subjects: diet restrictions ( β = 5.96; P < 0.0001), daily hassles ( β = 3.57; P = 0.01) and fears about hypoglycaemia ( β = 3.88; P = 0.006). Treatment with CSII was also associated with a markedly higher DTSQ score ( β = 4.13; P < 0.0001) compared with MDI. Results were similar when CSII was compared separately with glargine- or NPH-based MDI regimens. Conclusions This large, non-randomized, case–control study suggests quality of life gains deriving from greater lifestyle flexibility, less fear of hypoglycaemia, and higher treatment satisfaction, when CSII is compared with either glargine-based or NPH-based MDI regimens. Diabet. Med. 25, 213–220 (2008)

Published
2008

20. Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene

Author

Fabrizio Barbetti, Stefano Tumini, Riccardo Bonfanti, D. Iafusco, Franco Meschi, Carla Bizzarri, Marco Cappa, F. Cerutti, Francesco Prisco, E. Ciacco, C. Torelli, Maurizio Vanelli, E. Faleschini, V. Cauvin, G. Tonini, Tonini, G, Bizzarri, C, Bonfanti, R, Vanelli, M, Cerutti, F, Faleschini, E, Meschi, F, Prisco, F, Ciacco, E, Cappa, M, Torelli, C, Cauvin, V, Tumini, S, Iafusco, Dario, Barbetti, F, EARLY ONSET DIABETES STUDY GROUP OF THE ITALIAN SOCIETY OF, Paediatric, ENDOCRINOLOGY AND, Diabetology, and Iafusco, D

Subjects
Blood Glucose, Potassium Channels, diabetes control, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, diarrhea, antidiabetic agent, glibenclamide, glipizide, insulin, sulfonylurea, clinical article, clinical trial, diabetes mellitus, gene mutation, gestational age, human, letter, missense mutation, newborn, newborn period, priority journal, Amino Acid Substitution, Child, Diabetes Mellitus, Humans, Hypoglycemic Agents, Infant, Infant, Newborn, Infant, Newborn, Diseases, Insulin, Mutation, Potassium Channels, Inwardly Rectifying, Sulfonylurea Compounds, Treatment Outcome, Diseases, Settore MED/13 - Endocrinologia, Diabetes mellitus genetics, Neonatal diabetes mellitus, neonatal diabetes mellitus, KCNJ11, Kir6.2, Permanent neonatal diabetes mellitus, Inwardly Rectifying, endocrine system, medicine.medical_specialty, medicine.drug_class, Diabetes mellitus, Internal medicine, Internal Medicine, medicine, business.industry, nutritional and metabolic diseases, medicine.disease, Sulfonylurea, Endocrinology, Sulfonylurea receptor, business
Abstract

To the Editor, Activating missense mutations in the gene encoding potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) represent the most common cause (40 to 64%, depending on populations) of permanent neonatal diabetes mellitus in patients diagnosed in the first 6 months of life [1, 2]. In addition, KCNJ11 activating mutations can lead to transient/relapsing neonatal diabetes [3, 4]. The KCNJ11 gene encodes the pore-forming subunit (also known as KIR6.2) of the pancreatic beta cell ATP-sensitive potassium channel (KATP), which exerts a pivotal role in glucose-regulated insulin release. In the beta cell, KIR6.2 forms a hetero-octameric complex (4:4) with the sulfonylurea receptor subtype 1 (SUR1); binding to SUR1 by sulfonylureas determines channel closure and insulin secretion [2]. In previously published cases, seven patients have been reported to respond well to the transfer from insulin to oral hypoglycaemic agents [4–8]. Here we report on the replacement of insulin with sulfonylureas in ten Italian children who have mutations in KCNJ11 (R50P, V59M [x4], K170R, R201C and R201H [x3]) and were followed in nine Diabetologia (2006) 49:2210–2213 DOI 10.1007/s00125-006-0329-x

Published
2006

21. M222 BREAKING DOWN MISCLASSIFICATIONS: NOT ALL GESTATIONAL DIABETES NEED TREATMENT AS NOT ALL CHILDREN NEED INSULIN

Author

A. Napoli, S. Schettini, A. Chiantera, D. Iafusco, F. Stoppoloni, P. Pirillo, Edoardo Tartaglia, M. Passaro, G. Balbi, and Alessandra Cocca

Subjects
Gestational diabetes, Pediatrics, medicine.medical_specialty, business.industry, Need treatment, Insulin, medicine.medical_treatment, Obstetrics and Gynecology, Medicine, General Medicine, business, medicine.disease
Published
2012
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22. Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family

Author

N Ingenito, Rosario Caruso, D. Zuccarello, M. Rigoli, G Ursomanno, I. Barberi, D. Iafusco, F. Prisco, Luciana Rigoli, Rigoli, L, Prisco, F, Caruso, Ra, Iafusco, Dario, Ursomanno, G, Zuccarello, D, Ingenito, N, Rigoli, M, and Barberi, I.

Subjects
Genetics, T14709C mutation of mitochondrial DNA, maternally inherited diabetes mellitus and/or deafness, a Italian family, medicine.medical_specialty, Mitochondrial DNA, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Endocrinology, Internal medicine, Diabetes mellitus, Mutation (genetic algorithm), Internal Medicine, medicine, business
Published
2001

23. Altered mannitol absorption in diabetic children

Author

L, De Magistris, M, Secondulfo, D, Iafusco, A G, Carbone, A, Urio, G, Pontoni, and R, Carratu

Subjects
Male, Diabetes Mellitus, Type 1, Magnetic Resonance Spectroscopy, Adolescent, Intestinal Absorption, Intestine, Small, Humans, Female, Mannitol, Child, Diuretics, Osmotic
Published
1996

24. Spontaneous and mitomycin-C-induced micronuclei in lymphocytes from subjects affected by Turner’s syndrome

Author

Maria Rosaria Scarfì, G. Stoppoloni, D. Iafusco, R. Di Pietro, Claudio Franceschi, Ferdinando Bersani, Maria Brigida Lioi, Olga Zeni, F. Prisco, M. Motta, Scarfì, Mr, Prisco, F, Bersani, F, Lioi, Mb, Zeni, O, DI PIETRO, R, Franceschi, C, Motta, M, Iafusco, Dario, and Stoppoloni, G.

Subjects
Adult, Aging, medicine.medical_specialty, Adolescent, Proliferation index, Mitomycin, Health, Toxicology and Mutagenesis, Lymphocyte, Turner Syndrome, Biology, Internal medicine, Turner syndrome, Genetics, medicine, Humans, Child, Molecular Biology, Chromosome Aberrations, Micronucleus Tests, Mitomycin C, Cell cycle, medicine.disease, medicine.anatomical_structure, Endocrinology, Child, Preschool, Micronucleus test, Toxicity, Immunology, Female, Micronucleus, Cell Division, Mutagens
Abstract

Peripheral blood lymphocytes from 15 subjects affected by Turner's syndrome (TS) and aged between 2 and 24 years (mean age 10.40 +/- 6.25) were tested to evaluate the spontaneous and Mitomycin-C-induced (MMC) micronucleus (MN) frequency. A group of 15 healthy subjects, in the same range of age (mean age 14.67 +/- 8.30), was also tested as control. As expected, statistically significant differences between spontaneous and MMC-induced MN were found either in TS and in healthy subjects. Unexpectedly, when the two groups of donors were compared, TS subjects showed a lower spontaneous and MMC-induced MN frequency, in comparison with healthy subjects. Cell proliferation kinetic and cytotoxicity were also measured applying the cytokinesis-block proliferation index (CBPI): the results show that MMC, at the employed concentration, does not induce cell cycle delay both in healthy and in TS donors. Whereas, when CBPI from TS and healthy donors were compared, a faster proliferation was found in TS patients in both untreated and MMC-treated cultures.

Published
1996

25. Seckel syndrome: report of three sibships with the type I primordial dwarfism. Possible linkage with HLA locus

Author

G, Stoppoloni, M, Stabile, M M, Rinaldi, F, Prisco, R G, Rabuano, E, Pace, D, Iafusco, F, Stoppoloni, and N, Greco

Subjects
Male, Haplotypes, Genetic Linkage, HLA Antigens, Intellectual Disability, Humans, Puberty, Precocious, Abnormalities, Multiple, Dwarfism, Female, Syndrome, Child, Pedigree
Abstract

The authors report on five cases of Seckel syndrome type I primordial dwarfism, belonging to three unrelated sibships. Immunological and cytogenetic investigations with DEB test did not evidence immunodeficiency or chromosomal fragility. HLA phenotype studies revealed an identical haplotype in affected sibs: a possible linkage with HLA is therefore suggested. Cranial magnetic resonance was performed in three patients and did not evidence any anomaly. One affected female showed precocious puberty at 7 years of age.

Published
1992

26. MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of 'neonatal diabetes'?

Author

A. Franzese, N. Sulli, Fabrizio Barbetti, F Prisco, D Iafusco, Prisco, F, Iafusco, Dario, Franzese, A, Sulli, N, and Barbetti, F.

Subjects
medicine.medical_specialty, Pediatrics, business.industry, Neonatal diabetes, Endocrinology, Diabetes and Metabolism, MODY 2, Internal Medicine, medicine, Neonatal hyperglycaemia, Intensive care medicine, business, medicine.disease
Published
2000
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27. Characteristics of insulin resistance in Turner syndrome

Author

G, Stoppoloni, F, Prisco, C, Alfano, D, Iafusco, G, Marrazzo, G, Paolisso, Stoppoloni, G, Prisco, F, Alfano, C, Iafusco, Dario, Marrazzo, G, and Paolisso, Giuseppe

Subjects
Adult, Blood Glucose, Adolescent, C-Peptide, Turner Syndrome, Glucagon, Glucose, Liver, Glucose Clamp Technique, Humans, Insulin, Female, Insulin Resistance, Somatostatin
Abstract

The characteristics of insulin resistance, in Turner syndrome are still unclear. For this purpose in 4 patients with Turner syndrome and in 8 control females we performed an euglycaemic hyperinsulinemic glucose clamp at the following insulin infusion rates (50 and 100 mU/Kg x h), each period lasting 120 min. A simultaneous infusion of D-3-H-glucose allowed us to determine in basal conditions and during the clamp hepatic glucose output and glucose disappearance rate (Rd). In basal conditions plasma glucose (4.8 +/- 0.1 vs 4.6 +/- 0.2 mmol/1 p = NS) and plasma glucagon (102 +/- 7.5 vs 112 +/- 11.3 ng/l p = NS) were similar in both groups despite higher plasma insulin (19 +/- 1.8 vs 7 +/- 2.2 mU/l p less than 0.05) and C-peptide (1.0 less than 0.1 vs 0.8 +/- 0.06 pmol/l p less than 0.05) levels in patients with Turner syndrome. In the last 60 min of the lower insulin infusion rate glucose infusion rate (4.1 +/- 0.3 vs 2.9 +/- 0.4 mg/Kg x min p less than 0.05) and glucose disappearance rate (3.89 +/- 0.12 vs 2.63 +/- 0.11 mg/Kg x min p less than 0.01) were significantly reduced in patients with Turner. On the contrary hepatic glucose output was similarly suppressed in both groups of subjects. Doubling the insulin infusion rate, we obtained similar results in patients and controls respectively. So we conclude that in Turner syndrome the insulin resistance state is mainly due to a muscular receptor defect.

Published
1990

30. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births

Author

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

Subjects
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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31. Gamma-globin Chain Heterogeneity In Childhood Leukemias

Author

IOLASCON, ACHILLE, D. IAFUSCO, E. M. DELGIUDICE, L. PINTO, M. T. DITULLIO, S. M. R., S. CUTILLO, Iolascon, Achille, D., Iafusco, E. M., Delgiudice, L., Pinto, M. T., Ditullio, S. M., R., and S., Cutillo

Published
1987

33. A TWIN PREGNANCY IN A MODY3 AFFECTED WOMAN

Author

PIROZZI, DANIELE, IAFUSCO, DARIO, TINTO, NADIA, Bitterman, Olimpia, Napoli, Angela, D. Pirozzi, D. Iafusco , O. Bitterman, A. Napoli, N. Tinto, Pirozzi, Daniele, Iafusco, Dario, Bitterman, Olimpia, Napoli, Angela, and Tinto, Nadia

Published
2015

34. No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 years

Author

Sonia Toni, Giulio Maltoni, Silvana Salardi, B. Pasquino, Ornella Massa, Fabrizio Barbetti, A. de Benedictis, R. Pesavento, Lucia Russo, Ivana Rabbone, Francesco Cadario, Dario Iafusco, C. Colombo, Giovanni Chiari, Massimo Porta, M. Sudano, Iafusco, Dario, Salardi, Silvana, Chiari, Giovanni, Toni, Sonia, Rabbone, Ivana, Pesavento, Roberta, Pasquino, Bruno, De Benedictis, Antonella, Maltoni, Giulio, Colombo, Carlo, Russo, Lucia, Massa, Ornella, Sudano, Maurizio, Cadario, Francesco, Porta, Massimo, Barbetti, Fabrizio, D. Iafusco, S. Salardi, G. Chiari, S. Toni, I. Rabbone, R. Pesavento, B. Pasquino, A. de Benedicti, G. Maltoni, C. Colombo, L. Russo, O. Massa, M. Sudano, F. Cadario, M. Porta, and F. Barbetti

Subjects
Diabetes duration, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Neonatal diabetes, Endocrinology, Diabetes and Metabolism, Gene mutation, ABCC8, Follow-Up Studie, Young Adult, Diabetes mellitus, Glyburide, medicine, Diabetes Mellitus, Internal Medicine, Humans, Insulin, DIABETE, Proliferative retinopathy, Advanced and Specialized Nursing, Diabetic Retinopathy, biology, business.industry, Medicine (all), Vitreoretinopathy, Proliferative, Autoantibody, Infant, Newborn, Infant, Diabetes Mellitu, Permanent neonatal diabetes mellitus, Middle Aged, medicine.disease, Surgery, biology.protein, Female, business, Follow-Up Studies, Human
Abstract

The knowledge about the long-term consequences of diabetes with onset in the neonatal period is scanty. We investigated the impact of long-standing diabetes (>15 years) on the retina of 10 patients with permanent neonatal diabetes mellitus (PNDM) (diabetes diagnosis within 6 months of birth) associated with mutations of GCK , KCNJ11 , INS , or ABCC8 genes and of two parents carrying an INS gene mutation diagnosed with diabetes in their childhood (1,2) (Table 1, patients 1–12). Eye complications were also evaluated in three patients with diabetes onset within 1 year of age and negative for type 1A diabetes autoantibodies (2) (Table 1, patients 13–15). View this table: Table 1 Clinical and genetic features of PNDM patients with a median diabetes duration of 24 years The mean age at diagnosis of diabetes of patients with …

Published
2014

35. Physical activity and sedentary lifestyle in children with type 1 diabetes: a multicentre Italian study

Author

Fainardi, V., Scarabello, C., Cangelosi, A., Fanciullo, L., Mastrorilli, C., Giannini, C., Mohn, A., Dario Iafusco, La Loggia, A., Lombardo, F., Toni, S., Valerio, G., Franzese, A., Prisco, F., Chiarelli, F., Vanelli, M., Fainardi, V, Scarabello, C, Cangelosi, A, Fanciullo, L, Mastrorilli, C, Giannini, C, Mohn, A, Iafusco, Dario, La Loggia, A, Lombardo, F, Toni, S, Valerio, G, Franzese, A, Prisco, F, Chiarelli, F, Vanelli, M., V., Fainardi, C., Scarabello, A., Cangelosi, L., Fanciullo, C., Mastrorilli, C., Giannini, A., Mohn, D., Iafusco, A. L., Loggia, F., Lombardo, S., Toni, G., Valerio, Franzese, Adriana, F., Prisco, F., Chiarelli, and M., Vanelli

Subjects
Adolescent, Child, Diabetes Mellitu, Glycated Hemoglobin, Male, Adolescent, type 1 diabetes, Health Behavior, Glycosylated, physical activity, epidemiology, Male, Motor Activity, Sedentary Lifestyle, Motor Activity, sedentary behaviours, Diabetes Mellitus, Type 1, Italy, Humans, Female, analysis, Humans, Italy, blood/psychology/therapy, Female, Health Behavior, Hemoglobin A, Sedentary Behavior, Child, Type 1
Abstract

BACKGROUND: Regular Physical Activity (RPA) is one of the cornerstones of Type 1 Diabetes (T1D) therapy, but conflicting results are reported in the literature. AIM: To compare (RPA) and Sedentary Lifestyle (SL) among children with type 1 diabetes (T1D) and healthy peers. SUBJECTS AND METHODS: Seven Italian paediatric diabetes centres enrolled 129 children with T1D and 214 healthy peers who were interviewed by a telephone questionnaire on physical activity level, sedentary lifestyle and clinical data. RESULTS: Compared to healthy peers, children with T1D: performed the same amount of RPA, were more frequently engaged in team sports (p = 0.018), described RPA as an enjoyable activity (p = 0.033), not boring (p = 0.035), a chance to spend time with peers (p = 0.033) and to meet new friends (p = 0.016). Children with T1D were finally used to consume less snacks during watching TV (p < 0.001) or after physical activity (p < 0.001 ). HbA1c values were not related with time spent in physical activity, in watching TV or in playing video-games. CONCLUSIONS: Most interviewed children with T1D are physically active and perform the same amount of exercise as their healthy peers. They demonstrate to consider RPA a source of enjoyment and sociality and not a therapeutic imposition.

Published
2011

36. Potential celiac disease in type 1 diabetes: a multicenter study

Author

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

Subjects
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.

Published
2011

37. MITOCHONDRIAL DIABETES IN CHILDREN FROM SOUTHERN ITALY

Author

MAZZACCARA, CRISTINA, IAFUSCO, DARIO, SIMONELLI, FRANCESCA, PRISCO, FRANCESCO, MASULLO, MARIOROSARIO, SACCHETTI, LUCIA, R. Liguori, M. Ferrigno, A. Galderisi, D. Vitale, P. Landolfo, C. Mazzaccara, D. Iafusco, R. Liguori, M. Ferrigno, A. Galderisi, D. Vitale, F. Simonelli, P. Landolfo, F. Prisco, M. Masullo, L. Sacchetti, Mazzaccara, Cristina, Iafusco, Dario, R., Liguori, M., Ferrigno, A., Galderisi, D., Vitale, Simonelli, Francesca, P., Landolfo, Prisco, Francesco, Masullo, Mariorosario, and Sacchetti, Lucia

Published
2011

38. Nuove variazioni nel genoma mitocondriale in pazienti con diabete mitocondriale del sud Italia

Author

R. Liguori, M. Ferrigno, MAZZACCARA, CRISTINA, PRISCO, FRANCESCO, ESPOSITO, FRANCA, MASULLO, MARIOROSARIO, IAFUSCO, DARIO, SACCHETTI, LUCIA, R. Liguori, C. Mazzaccara, M. Ferrigno, F. Prisco, F. Esposito, M. Masullo, D. Iafusco, L. Sacchetti, R., Liguori, Mazzaccara, Cristina, M., Ferrigno, Prisco, Francesco, Esposito, Franca, Masullo, Mariorosario, Iafusco, Dario, and Sacchetti, Lucia

Published
2009

39. Endocrinologia e metabolismo

Author

PERRONE, Laura, F. PRISCO, IAFUSCO, Dario, A. LA MANNA, MIRAGLIA DEL GIUDICE, Emanuele, L PERRONE, C ESPOSITO, S GRANO, D IAFUSCO, Perrone, Laura, F., Prisco, Iafusco, Dario, A., LA MANNA, and MIRAGLIA DEL GIUDICE, Emanuele

Published
2008

41. Geographical variation and rising trend of type 1 diabetes in Italy

Author

Cherubini V, Carle F, Gesuita R, Bruno G, Cotellessa M, Devoti G, Falorni A, Martinucci ME, Pinelli A, Prisco F, Sondini M, Visalli N, RIDI Study Group (P Barbieri, L Carpinelli, A Casu, F Cerutti, GV Coppa, G D'Annunzio, G De Giorgi, M Di Meio, P Frongia, A Gentili, Iafusco D, A Iannilli, R Lorini, G Marietti, AM Marinaro, M Mazzella, A Medici, F Merletti, G Pagano, ML Picchio, P Pozzilli, F Santeusanio, MT Tenconi, S Toni. ), F. Carle, R. Gesuita, G. Bruno, M. Cotellessa, G. Devoti, A. Falorni, M. E. Martinucci, A. Pinelli, F. Prisco, M. Songini, N. Visalli, RIDI Study Group, Barbieri, L Carpinelli, A Casu, F Cerutti, GV Coppa, G D' Annunzio, G De Giorgi, M Di Meio, P Frongia, A Gentili, D Iafusco, A Iannilli, R Lorini, G Marietti, AM Marinaro, M Mazzella, A Medici, F Merletti, G Pagano, ML Picchio, P Pozzilli, F Santeusanio, MT Tenconi, S Toni., Cherubini, V, Carle, F, Gesuita, R, Bruno, G, Cotellessa, M, Devoti, G, Falorni, A, Martinucci, Me, Pinelli, A, Prisco, F, Sondini, M, Visalli, N, RIDI Study Group (P, Barbieri, L, Carpinelli, A, Casu, F, Cerutti, Gv, Coppa, G, D'Annunzio, G De, Giorgi, M Di, Meio, P, Frongia, A, Gentili, Iafusco, D, A, Iannilli, R, Lorini, G, Marietti, Am, Marinaro, M, Mazzella, A, Medici, F, Merletti, G, Pagano, Ml, Picchio, P, Pozzilli, F, Santeusanio, Mt, Tenconi, and S, Toni. ).

Published
2002

42. Glucokinase (GCK) Mutations and Their Characterization in MODY2 Children of Southern Italy

Author

Arturo Cola, Carla Carluccio, Iolanda Coto, Marina Capuano, Valentina Capobianco, Nadia Tinto, Adriana Zagari, María Ángeles Navas, Carmen M. García-Herrero, Lucia Sacchetti, Dario Iafusco, Adriana Franzese, Capuano, Marina, C. M., Garcia Herrero, Tinto, Nadia, C., Carluccio, Capobianco, Valentina, I., Coto, A., Cola, D., Iafusco, Franzese, Adriana, A., Zagari, M. A., Nava, L., Sacchetti, Capuano, M, Garcia Herrero, Cm, Tinto, N, Carluccio, C, Capobianco, V, Coto, I, Cola, A, Iafusco, Dario, Franzese, A, Zagari, A, Navas, Ma, and Sacchetti, L.

Subjects
Male, Models, Molecular, Protein Conformation, lcsh:Medicine, Gene mutation, medicine.disease_cause, Biochemistry, Adenosine Triphosphate, Endocrinology, Glucokinase, Biomacromolecule-Ligand Interactions, Child, lcsh:Science, Chromatography, High Pressure Liquid, Genetics, Mutation, education.field_of_study, Multidisciplinary, Enzyme Classes, Enzyme structure, Enzymes, Italy, Medicine, Female, Research Article, Phosphorylases, Population, Biology, Maturity onset diabetes of the young, Denaturing high performance liquid chromatography, Genetic Mutation, medicine, Humans, education, Enzyme Kinetics, Diabetic Endocrinology, Polymorphism, Genetic, Point mutation, lcsh:R, Computational Biology, Diabetes Mellitus Type 2, medicine.disease, Molecular biology, Kinetics, Diabetes Mellitus, Type 2, Genetics of Disease, Mutagenesis, Site-Directed, Genetic Polymorphism, lcsh:Q, Population Genetics
Abstract

Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized by a primary defect in insulin secretion and hyperglycemia. It results from GCK gene mutations that impair enzyme activity. Between 2006 and 2010, we investigated GCK mutations in 66 diabetic children from southern Italy with suspected MODY2. Denaturing High Performance Liquid Chromatography (DHPLC) and sequence analysis revealed 19 GCK mutations in 28 children, six of which were novel: p.Glu40Asp, p.Val154Leu, p.Arg447Glyfs, p.Lys458_Cys461del, p.Glu395_Arg397del and c.580-2A>T. We evaluated the effect of these 19 mutations using bioinformatic tools such as Polymorphism Phenotyping (Polyphen), Sorting Intolerant From Tolerant (SIFT) and in silico modelling. We also conducted a functional study to evaluate the pathogenic significance of seven mutations that are among the most severe mutations found in our population, and have never been characterized: p.Glu70Asp, p.His137Asp, p.Phe150Tyr, p.Val154Leu, p.Gly162Asp, p.Arg303Trp and p.Arg392Ser. These seven mutations, by altering one or more kinetic parameters, reduced enzyme catalytic activity by >40%. All mutations except p.Glu70Asp displayed thermal-instability, indeed >50% of enzyme activity was lost at 50°C/30 min. Thus, these seven mutations play a pathogenic role in MODY2 insurgence. In conclusion, this report revealed six novel GCK mutations and sheds some light on the structure-function relationship of human GCK mutations and MODY2.

Published
2012
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44. Cytostatic Drugs and Enhanced Hbf Production In Childhood

Author

Dario Iafusco, S Cutillo, Bruno Nobili, E. Miraglia del Giudice, P. Salvati, L. Pinto, F. Casale, Achille Iolascon, Sofia Maria Rosaria Matarese, Iolascon, Achille, F., Casale, D., Iafusco, E. M., Delgiudice, P., Salvati, S. M., R., B., Nobili, L., Pinto, and S., Cutillo

Subjects
Chemotherapy, business.industry, medicine.medical_treatment, Immunology, Azacitidine, Fetal hemoglobin, Cytostatic drugs, Medicine, Cell Biology, Pharmacology, business, medicine.drug
Published
1986

45. Development and validation of a novel method for evaluation of multiple islet autoantibodies in dried blood spot using dissociation-enhanced lanthanide fluorescent immunoassays technology, specific and suitable for paediatric screening programmes.

Author

Dufrusine B, Natale L, Sallese M, Mozzillo E, Di Candia F, Cuccurullo I, Iafusco D, Zanfardino A, Passariello L, Iannilli A, Santarelli S, Federici L, De Laurenzi V, Cherubini V, and Pieragostino D

Published
2025
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47. Device-Related Skin Reactions Increase Emotional Burden in Youths With Type 1 Diabetes and Their Parents.

Author

Passanisi S, Galletta F, Bombaci B, Cherubini V, Tiberi V, Minuto N, Bassi M, Iafusco D, Piscopo A, Mozzillo E, Di Candia F, Rabbone I, Pozzi E, Franceschi R, Cauvin V, Maffeis C, Piona CA, and Salzano G

Subjects
Humans, Adolescent, Female, Male, Child, Cross-Sectional Studies, Young Adult, Insulin Infusion Systems psychology, Insulin Infusion Systems adverse effects, Emotions, Psychological Distress, Glycated Hemoglobin analysis, Blood Glucose analysis, Diabetes Mellitus, Type 1 psychology, Diabetes Mellitus, Type 1 blood, Diabetes Mellitus, Type 1 drug therapy, Parents psychology, Blood Glucose Self-Monitoring psychology, Blood Glucose Self-Monitoring instrumentation
Abstract

Background: Skin reactions due to technological devices pose a significant concern in the management of type 1 diabetes (T1D). This multicentric, comparative cross-sectional study aimed to assess the psychological impact of device-related skin issues on youths with T1D and their parents., Methods: Participants with skin reactions were matched in a 1:1 ratio with a control group. Diabetes-related emotional distress was evaluated using the Problem Areas in Diabetes-Teen version (PAID-T) for participants aged 11 to 19 years and the Problem Areas in Diabetes-Parent Revised version (PAID-PR) completed by parents. In addition, glucose control was assessed through glycated hemoglobin (HbA 1c ) values and continuous glucose monitoring (CGM) metrics., Results: A total of 102 children and adolescents were consecutively recruited. Adolescents with skin issues had higher PAID-T scores compared to those without (79.6 ± 21.1 vs 62 ± 16.8; P = .004). Parents of youths with skin reactions also reported higher PAID-PR scores than the control group (34.0 ± 11.0 vs 26.9 ± 12.3; P = .015). No differences were observed in HbA 1c levels (6.9 ± 0.8% vs 6.8 ± 0.8%, P = .555) or CGM glucose metrics between the two groups. Remarkably, 25.5% were forced to discontinue insulin pumps and/or glucose sensors (21.5% and 5.9%, respectively)., Conclusions: Our study highlighted the increased emotional burden experienced by youths with T1D and their parents due to device-related skin reactions, emphasizing the need for further research and interventions in this crucial aspect of diabetes management., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: SP received speaking honoraria from Roche and Movi SpA. NM received speaking honoraria from Movi SpA, Theras, and Novonordisk. MB received speaking honoraria from Movi SpA. All other authors declare no conflicts of interest.

Published
2024
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48. Follow-up and monitoring programme in children identified in early-stage type 1 diabetes during screening in the general population of Italy.

Author

Cherubini V, Mozzillo E, Iafusco D, Bonfanti R, Ripoli C, Pricci F, Vincentini O, Agrimi U, Silano M, Ulivi F, D'Avino A, Lampasona V, and Bosi E

Subjects
Humans, Italy epidemiology, Child, Adolescent, Child, Preschool, Follow-Up Studies, Infant, Male, Female, Mass Screening methods, Registries, Pilot Projects, Celiac Disease diagnosis, Celiac Disease epidemiology, Celiac Disease blood, Diabetic Ketoacidosis epidemiology, Diabetic Ketoacidosis diagnosis, Early Diagnosis, Diabetes Mellitus, Type 1 epidemiology, Diabetes Mellitus, Type 1 diagnosis, Diabetes Mellitus, Type 1 blood, Autoantibodies blood
Abstract

Aim: To provide guidance for follow-up and monitoring of children and adolescents identified as positive to islet autoantibodies (IA) in the general population screening for type 1 diabetes (T1D) in Italy., Methods: Detection of IA helps to diagnose pre-symptomatic T1D, prevent diabetic ketoacidosis (DKA) and identify persons for new therapies to delay symptomatic diabetes. Italy recently became the first country to approve by law a general autoantibody screening program for T1D and celiac disease in all children and adolescents (age 1-17yr). A pilot study is currently underway in four Italian regions addressing feasibility issues to be used in the scale up to nationwide screening. Meanwhile, a group of experts developed guidance recommendations for follow-up and monitoring of identified IA positive persons., Results: Ten key components have been identified: establishment of a registry for children and adolescents at risk; close collaboration with the national network of family paediatricians; creation of T1D centers with expertise in follow-up and monitoring; educational measures; assurance of solid IA tests; identification of appropriate metabolic tests; feed-back feasibility and acceptability questionnaires; potential access to available therapeutic interventions; valuable outcome measures including DKA incidence; costs monitoring. Distinctive features of this program include single (in addition to multiple) IA antibody-positive persons in follow-up and the use of CGM to assess risk progression, rather than the cumbersome OGTT., Conclusion: It is expected that the proposed follow-up and monitoring program will be effective, affordable and acceptable to children and families identified in general T1D screening in Italy., (© 2024 John Wiley & Sons Ltd.)

Published
2024
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49. Fear of hypoglycemia in parents of children with type 1 diabetes trained for intranasal glucagon use.

Author

Troncone A, Piscopo A, Zanfardino A, Chianese A, Cascella C, Affuso G, Borriello A, Curto S, Rollato AS, Testa V, Del Giudice EM, Magliano L, and Iafusco D

Subjects
Humans, Male, Female, Child, Adolescent, Adult, Surveys and Questionnaires, Middle Aged, Diabetes Mellitus, Type 1 drug therapy, Diabetes Mellitus, Type 1 blood, Diabetes Mellitus, Type 1 psychology, Fear, Hypoglycemia chemically induced, Parents psychology, Administration, Intranasal, Glucagon, Anxiety
Abstract

Objective: To investigate fear of hypoglycemia (FoH) in parents of children with type 1 diabetes (T1D) before and after undergoing training to learn intranasal (IN) glucagon administration., Method: In this pre-test/post-test uncontrolled study 364 caregivers of patients with T1D (6-18 years) completed questionnaires measuring sociodemographic characteristics, diabetes-related factors (e.g., type of insulin therapy, glycemic control), and parents' trait anxiety. Parents' FoH was assessed at baseline (T0, training) and after nine months (T1). Two repeated-measure mixed analyses of covariance (ANCOVA) compared the FoH at T0 and at T1 and analyzed the moderating roles of anxiety proneness and type of insulin therapy, as well as of anxiety proneness and use of sensor. Age, T1D duration, HbA1c values, and SES were included as covariates., Results: Parental FoH at T1 (M = 1.72; SE = 0.06/M = 1.57; SE = 0.09) was significantly lower than parental FoH at T0 (M = 1.89; SE = 0.06/M = 1.77; SE = 0.09). The group with high trait-anxiety had a higher level of FoH (M = 2.05; SE = 0.08/M = 1.89; SE = 0.12) than the group with low trait-anxiety (M = 1.57; SE = 0.08/M = 1.46; SE = 0.09) at both time points. SES was negatively associated with FoH at T0 (t = -2.87; p = .004/t = -2.87; p = .005). No other significant effects were found., Conclusions: Training and educating parents on IN glucagon use can help them effectively manage hypoglycemic episodes and alleviate the fear that generally accompany such events., Competing Interests: Declaration of competing interest The authors declare that they have no competing interest., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2024
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50. The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.

Author

Rapini N, Delvecchio M, Mucciolo M, Ruta R, Rabbone I, Cherubini V, Zucchini S, Cianfarani S, Prandi E, Schiaffini R, Bizzarri C, Piccini B, Maltoni G, Predieri B, Minuto N, Di Paola R, Giordano M, Tinto N, Grasso V, Russo L, Tiberi V, Scaramuzza A, Frontino G, Maggio MC, Musolino G, Piccinno E, Tinti D, Carrera P, Mozzillo E, Cappa M, Iafusco D, Bonfanti R, Novelli A, and Barbetti F

Subjects
Humans, Italy epidemiology, Infant, Newborn, Male, Female, Infant, High-Throughput Nucleotide Sequencing, Infant, Newborn, Diseases epidemiology, Infant, Newborn, Diseases genetics, Genetic Testing methods, Insulin Resistance genetics, Mutation, Incidence, Retrospective Studies, Diabetes Mellitus epidemiology, Diabetes Mellitus genetics
Abstract

Context: In the last decade the Sanger method of DNA sequencing has been replaced by next-generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM)., Objective: To compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.SIR) identified in Italy in 2003-2012 (Sanger) vs 2013-2022 (NGS)., Methods: We reviewed clinical and genetic records of 104 cases with diabetes onset before 6 months of age (NDM + c.SIR) of the Italian dataset., Results: Fifty-five patients (50 NDM + 5 c.SIR) were identified during 2003-2012 and 49 (46 NDM + 3 c.SIR) in 2013-2022. Twenty-year incidence was 1:103 340 (NDM) and 1:1 240 082 (c.SIR) live births. Frequent NDM/c.SIR genetic defects (KCNJ11, INS, ABCC8, 6q24, INSR) were detected in 41 and 34 probands during 2003-2012 and 2013-2022, respectively. We identified a pathogenic variant in rare genes in a single proband (GATA4) (1/42 or 2.4%) during 2003-2012 and in 8 infants (RFX6, PDX1, GATA6, HNF1B, FOXP3, IL2RA, LRBA, BSCL2) during 2013-2022 (8/42 or 19%, P = .034 vs 2003-2012). Notably, among rare genes 5 were recessive. Swift and accurate genetic diagnosis led to appropriate treatment: patients with autoimmune NDM (FOXP3, IL2RA, LRBA) were subjected to bone marrow transplant; patients with pancreas agenesis/hypoplasia (RFX6, PDX1) were supplemented with pancreatic enzymes, and the individual with lipodystrophy caused by BSCL2 was started on metreleptin., Conclusion: NGS substantially improved diagnosis and precision therapy of monogenic forms of neonatal diabetes and c.SIR in Italy., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.)

Published
2024
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