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1. Case report: A case of Rabson-Mendenhall syndrome: long-term follow-up and therapeutic management with empagliflozin.

Author

Foglino, R., Barbetti, F., Morotti, E., Castorani, V., Rigamonti, A., Frontino, G., Barera, G., and Bonfanti, R.

Subjects
SODIUM-glucose cotransporters, SODIUM-glucose cotransporter 2 inhibitors, METABOLIC syndrome, EMPAGLIFLOZIN, GLYCEMIC control, INSULIN receptors, THERAPEUTICS
Abstract

Background: Rabson-Mendenhall syndrome (RMS), a rare disorder characterized by severe insulin resistance due to biallelic loss-of-function variants of the insulin receptor gene (INSR), presents therapeutic challenges (OMIM: 262190). This case study explores the efficacy of adjunctive therapy with sodium-glucose cotransporter 2 inhibitors (SGLT2is) in the management of RMS in an 11-year-old male patient with compound heterozygous pathogenic variants of INSR. Methods: Despite initial efforts to regulate glycemia with insulin therapy followed by metformin treatment, achieving stable glycemic control presented a critical challenge, characterized by persistent hyperinsulinism and variable fluctuations in glucose levels. Upon the addition of empagliflozin to metformin, notable improvements in glycated hemoglobin (HbA1c) and time in range (TIR) were observed over a 10-month period. Results: After 10 months of treatment, empagliflozin therapy led to a clinically meaningful reduction in HbA1c levels, decreasing from 8.5% to 7.1%, along with an improvement in TIR from 47% to 74%. Furthermore, regular monitoring effectively averted normoglycemic ketoacidosis, a rare complication associated with SGLT2 inhibitor therapy. Conclusion: This case highlights the potential of SGLT2i as adjunctive therapy in RMS management, particularly in stabilizing glycemic variability. However, further research is warranted to elucidate the long-term efficacy and safety of this therapeutic approach in RMS and similar insulin resistance syndromes. [ABSTRACT FROM AUTHOR]

Published
2024
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2. Recommendations for recognizing, risk stratifying, treating, and managing children and adolescents with hypoglycemia

Author

Stefano Zucchini, Stefano Tumini, Andrea Enzo Scaramuzza, Riccardo Bonfanti, Maurizio Delvecchio, Roberto Franceschi, Dario Iafusco, Lorenzo Lenzi, Enza Mozzillo, Stefano Passanisi, Claudia Piona, Ivana Rabbone, Novella Rapini, Andrea Rigamonti, Carlo Ripoli, Giuseppina Salzano, Silvia Savastio, Riccardo Schiaffini, Angela Zanfardino, Valentino Cherubini, Diabetes Study Group of the Italian Society for Pediatric Endocrinology Diabetes, Albino Claudia Accursia, Aloe Monica, Anzelotti Maria Teresa, Arnaldi Claudia, Barbetti Fabrizio, Bassi Marta, Berioli Maria Giulia, Bernardini Luca, Bertelli Enrica, Biagioni Martina, Bobbio Adriana, Bombaci Bruno, Bonfanti Riccardo, Bonura Clara, Bracciolini Giulia Patrizia, Bruzzese Mariella, Bruzzi Patrizia, Buono Pietro, Buscarino Piera, Cadario Francesco, Calcaterra Valeria, Calzi Elena, Cappa Marco, Cardani Roberta, Cardella Francesca, Cardinale Giuliana Marcella, Casertano Alberto, Castorani Valeria, Cauvin Vittoria, Cenciarelli Valentina, Ceruti Franco, Cherubini Valentino, Chiarelli Francesco, Chiari Giovanni, Cianfarani Stefano, Cicchetti Mario, Cipriano Paola, Cirillo Dante, Citriniti Felice, Coccioli Maria Susanna, Confetto Santino, Contreas Giovanna, Coro Anna, Correddu Antonella, Corsini Elisa, Crino’ Antonino, d’Annunzio Giuseppe, De Berardinis Fiorella, De Donno Valeria, De Filippo Gianpaolo, De Marco Rosaria, De Sanctis Luisa, Del Duca Elisabetta, Delvecchio Maurizio, Deodati Annalisa, Di Bonito Procolo, Di Candia Francesca, Faleschini Elena, Fattorusso Valentina, Favia Anna, Federico Giovanni, Felappi Barbara, Ferrari Mara, Ferrito Lucia, Fichera Graziella, Fontana Franco, Fornari Elena, Franceschi Roberto, Franco Francesca, Franzese Adriana, Frongia Anna Paola, Frontino Giulio, Gaiero Alberto, Galassi Sabrina Maria, Gallo Francesco, Gargantini Luigi, Giani Elisa, Gortan Anna Jolanda, Graziani Vanna, Grosso Caterina, Gualtieri Antonella, Guasti Monica, Guerraggio Lucia Paola, Guzzetti Chiara, Iafusco Dario, Iannicelli Gennaro, Iezzi Maria Laura, Ignaccolo Maria Giovanna, Innaurato Stefania, Inzaghi Elena, Iovane Brunella, Iughetti Lorenzo, Kaufmann Peter, La Loggia Alfonso, Lambertini Anna Giulia, Lapolla Rosa, Lasagni Anna, Lazzaro Nicola, Lazzeroni Pietro, Lenzi Lorenzo, Lera Riccardo, Levantini Gabriella, Lezzi Marilea, Lia Rosanna, Liguori Alice, Lo Presti Donatella, Lombardo Fortunato, Lonero Antonella, Longhi Silvia, Lorubbio Antonella, Lucchesi Sonia, Maccioni Rosella, Macedoni Maddalena, Macellaro Patrizia Cristiana, Madeo Simona Filomena, Maffeis Claudio, Mainetti Benedetta, Maltoni Giulio, Mameli Chiara, Mammì Francesco, Manca Bitti Maria Luisa, Mancioppi Valentina, Manco Melania, Marigliano Marco, Marino Monica, Marsciani Alberto, Matteoli Maria Cristina, Mazzali Elena, Minute Marta, Minuto Nicola, Monti Sara, Morandi Anita,, Morganti Gianfranco, Morotti Elisa, Mozzillo Enza, Musolino Gianluca, Olivieri Francesca, Ortolani Federica, Pampanini Valentina, Pardi Daniela, Pascarella Filomena, Pasquino Bruno, Passanisi Stefano, Patera Ippolita Patrizia, Pedini Annalisa, Pennati Maria Cristina, Peruzzi Sonia, Peverelli Paola, Pezzino Giulia, Piccini Barbara, Piccinno Elvira Eugenia Rosaria, Piona Claudia, Piredda Gavina, Piscopo Alessia, Pistone Carmelo, Pozzi Erica, Prandi Elena, Predieri Barbara, Prudente Sabrina, Pulcina Anna, Rabbone Ivana, Randazzo Emioli, Rapini Novella, Reinstadler Petra, Riboni Sara, Ricciardi Maria Rossella, Rigamonti Andrea, Ripoli Carlo, Rossi Virginia, Rossi Paolo, Rutigliano Irene, Sabbion Alberto, Salvatoni Alessandro, Salvo Caterina, Salzano Giuseppina, Sanseviero Mariateresa, Savastio Silvia, Savini Rosanna, Scanu Mariapiera, Scaramuzza Andrea Enzo, Schiaffini Riccardo, Schiavone Maurizio, Schieven Eleonardo, Scipione Mirella, Secco Andrea, Silvestri Francesca, Siri Giulia, Sogno Valin Paola, Sordelli Silvia, Spiri Daniele, Stagi Stefano, Stamati Filomena Andreina, Suprani Tosca, Talarico Valentina, Tiberi Valentina, Timpanaro Tiziana Antonia Lucia, Tinti Davide, Tirendi Antonina, Tomaselli Letizia Grazia, Toni Sonia, Torelli Cataldo, Tornese Gianluca, Trada Michela,, Trettene Adolfo Andrea, Tumini Stefano, Tumminelli Marilena, Valerio Giuliana, Vandelli Sara, Ventrici Claudia, Zampolli Maria, Zanatta Manuela, Zanfardino Angela, Zecchino Clara, Zonca Silvia, and Zucchini Stefano

Subjects
adolescents, automated insulin delivery, children, hypoglycemia, glucagon, oral glucose, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

There has been continuous progress in diabetes management over the last few decades, not least due to the widespread dissemination of continuous glucose monitoring (CGM) and automated insulin delivery systems. These technological advances have radically changed the daily lives of people living with diabetes, improving the quality of life of both children and their families. Despite this, hypoglycemia remains the primary side-effect of insulin therapy. Based on a systematic review of the available scientific evidence, this paper aims to provide evidence-based recommendations for recognizing, risk stratifying, treating, and managing patients with hypoglycemia. The objective of these recommendations is to unify the behavior of pediatric diabetologists with respect to the timely recognition and prevention of hypoglycemic episodes and the correct treatment of hypoglycemia, especially in patients using CGM or advanced hybrid closed-loop systems. All authors have long experience in the specialty and are members of the Italian Society of Pediatric Endocrinology and Diabetology. The goal of treating hypoglycemia is to raise blood glucose above 70 mg/dL (3.9 mmol/L) and to prevent further decreases. Oral glucose at a dose of 0.3 g/kg (0.1 g/kg for children using “smart pumps” or hybrid closed loop systems in automated mode) is the preferred treatment for the conscious individual with blood glucose

Published
2024
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8. 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

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, D., Barbetti, F., and Early-Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology

Published
2006
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9. Permanent diabetes mellitus in the first year of life

Author

Iafusco, D., Stazi, M., Cotichini, R., Cotellessa, M., Martinucci, M., Mazzella, M., Cherubini, V., Barbetti, F., Martinetti, M., Cerutti, F., Prisco, F., and and the Early Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology

Published
2002
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15. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

Author

Bowman P., Sulen A., Barbetti F., Beltrand J., Svalastoga P., Codner E., Tessmann E. H., Juliusson P. B., Skrivarhaug T., Pearson E. R., Flanagan S. E., Babiker T., Thomas N. J., Shepherd M. H., Ellard S., Klimes I., Szopa M., Polak M., Iafusco D., Hattersley A. T., Njolstad P. R., Aisenberg J., Akkurt I., Abdul-Latif H., Al-Abdullah A., Barak L., Van Den Bergh J., Bertrand A. -M., Bizzarri C., Bonfanti R., Bruel H., Burrows A., Cadario F., Cameron F. J., Carson D., Cartigny M., Cauvin V., Cave H., Chakera A., Chetan R., Chiari G., Couch B., Coutant R., Cummings E., Dankovcikova A., Davis L., Deiss D., Delvecchio M., Faleschini E., Fauret A. -L., Finn R., Ford T., Franco E. D., Gallen B. D., Gasperikova D., Guntamukkala P., Hakeem V., Hasegawa S., Hathout E. H., Heffernan E., Hill D., Ho J., Hoarau M., Holl R., Hoddinott R., Houghton J., Howard N., Hughes N., Hunter I., Hogasen A. K., Kuulasmaa H., Ioacara S., Iotova V., Irgens H., Jaap A., Jones K., Kapellen T., Kaufman E., Klinge A., Klupa T., Krishnaswamy R., Lafferty T., LeGault L., Lambert P., Malecki M. T., Malievsky O., Mathew R., Mathews F., McVie R., Menzel U., Metz C., Meulen J. V. D., Modgil G., Mul D., Muther S., Nuboer R., O'Connell S. M., O'Riordan S., Palko M., Patel K. A., Pesavento R., Piccinno E., Pillai J. K., Pruhova S., Punthakee Z., Rabbone I., Raile K., Rincon M., Rose D., Sanchez J., Sandereson S., Saxena V., Schebek M., Schmidt D., Shehadeh N., Shiels J. P. H., Silva J. M. C. L., Stanik J., Tinklin T., Tjora E., Tumini S., Tuomi T., Uehara A., Velde R. V. D., Vermeulen G., Visser U., Voorhoeve P., Walker J., Weill J., Weisner T., Werner A., Williams T., Woodhead H., oddegard R., Bowman, Pamela, Sulen, Åsta, Barbetti, Fabrizio, Beltrand, Jacque, Svalastoga, Pernille, Codner, Ethel, Tessmann, Ellen H, Juliusson, Petur B, Skrivarhaug, Torild, Pearson, Ewan R, Flanagan, Sarah E, Babiker, Tarig, Thomas, Nicholas J, Shepherd, Maggie H, Ellard, Sian, Klimes, Iwar, Szopa, Magdalena, Polak, Michel, Iafusco, Dario, Hattersley, Andrew T, Njølstad, Pål R, Aisenberg, Javier, Akkurt, Ilker, Abdul-Latif, Hussein, Al-Abdullah, Anee, Barak, Lubomir, Van Den Bergh, Joop, Bertrand, Anne-Marie, Bizzarri, Carla, Bonfanti, Riccardo, Bruel, Henri, Burrows, Anthony, Cadario, Francesco, Cameron, Fergus J., Carson, Denni, Cartigny, Maryse, Cauvin, Vittoria, Cave, Helene, Chakera, Ali, Chetan, Ravi, Chiari, Giovanni, Couch, Bob, Coutant, Régi, Cummings, Elizabeth, Dankovcikova, Adriana, Davis, Liz, Deiss, Dorothee, Delvecchio, Maurizio, Faleschini, Elena, Fauret, Anne-Laure, Finn, Roisin, Ford, Tamsin, Franco, Elisa De, Gallen, Bastian De, Gasperíková, Daniela, Guntamukkala, Padma, Hakeem, Vaseem, Hasegawa, Shinji, Hathout, Eba H., Heffernan, Emmeline, Hill, David, Ho, Josephine, Hoarau, Marie, Holl, Reinhard, Hoddinott, Rebecca, Houghton, Jane, Howard, Neville, Hughes, Natalie, Hunter, Ian, Høgåsen, Anne Kirsti, Kuulasmaa, Helena, Iocara, Sorin, Iotova, Violeta, Irgens, Henrik, Jaap, Alan, Jones, Kenneth, Kapellen, Thoma, Kaufman, Ellen, Klinge, Andrea, Klupa, Tomasz, Krishnaswamy, Ramaiyer, Lafferty, Tony, Legault, Laurent, Lambert, Paul, Malecki, Maciej T, Malievsky, Olag, Mathew, Revi, Mathews, France, Mcvie, Robert, Menzel, Ulrike, Metz, Chantale, Meulen, John Van Der, Modgil, Gita, Mul, Dick, Muther, Silvia, Nuboer, Roo, O'Connell, Susan M., O'Riordan, Stephen, Palko, Miroslav, Patel, Kashyap Amratlal, Pesavento, Roberta, Piccinno, Elvira, Pillai, Janani Kumaraguru, Pruhova, Stephanka, Punthakee, Zubin, Rabbone, Ivana, Raile, Klemen, Rincon, Marielisa, Rose, Danette, Sanchez, Janine, Sandereson, Susan, Saxena, Vinay, Schebek, Martin, Schmidt, Dorothee, Shehadeh, Naim, Shiels, Julian P. H., Silva, Jose M. C. L, Stanik, Juraj, Tinklin, Tracy, Tjora, Erling, Tumini, Stefano, Tuomi, Tiinamaija, Uehara, Akiko, Velde, Robert Van der, Vermeulen, Guido, Visser, Uma, Voorhoeve, Paul, Walker, Jan, Weill, Jaque, Weisner, Tobia, Werner, Andrea, Williams, Toni, Woodhead, Helen, Øddegård, Rønnaug, Bowman, P., Sulen, A., Barbetti, F., Beltrand, J., Svalastoga, P., Codner, E., Tessmann, E. H., Juliusson, P. B., Skrivarhaug, T., Pearson, E. R., Flanagan, S. E., Babiker, T., Thomas, N. J., Shepherd, M. H., Ellard, S., Klimes, I., Szopa, M., Polak, M., Iafusco, D., Hattersley, A. T., Njolstad, P. R., Aisenberg, J., Akkurt, I., Abdul-Latif, H., Al-Abdullah, A., Barak, L., Van Den Bergh, J., Bertrand, A. -M., Bizzarri, C., Bonfanti, R., Bruel, H., Burrows, A., Cadario, F., Cameron, F. J., Carson, D., Cartigny, M., Cauvin, V., Cave, H., Chakera, A., Chetan, R., Chiari, G., Couch, B., Coutant, R., Cummings, E., Dankovcikova, A., Davis, L., Deiss, D., Delvecchio, M., Faleschini, E., Fauret, A. -L., Finn, R., Ford, T., Franco, E. D., Gallen, B. D., Gasperikova, D., Guntamukkala, P., Hakeem, V., Hasegawa, S., Hathout, E. H., Heffernan, E., Hill, D., Ho, J., Hoarau, M., Holl, R., Hoddinott, R., Houghton, J., Howard, N., Hughes, N., Hunter, I., Hogasen, A. K., Kuulasmaa, H., Ioacara, S., Iotova, V., Irgens, H., Jaap, A., Jones, K., Kapellen, T., Kaufman, E., Klinge, A., Klupa, T., Krishnaswamy, R., Lafferty, T., Legault, L., Lambert, P., Malecki, M. T., Malievsky, O., Mathew, R., Mathews, F., Mcvie, R., Menzel, U., Metz, C., Meulen, J. V. D., Modgil, G., Mul, D., Muther, S., Nuboer, R., O'Connell, S. M., O'Riordan, S., Palko, M., Patel, K. A., Pesavento, R., Piccinno, E., Pillai, J. K., Pruhova, S., Punthakee, Z., Rabbone, I., Raile, K., Rincon, M., Rose, D., Sanchez, J., Sandereson, S., Saxena, V., Schebek, M., Schmidt, D., Shehadeh, N., Shiels, J. P. H., Silva, J. M. C. L., Stanik, J., Tinklin, T., Tjora, E., Tumini, S., Tuomi, T., Uehara, A., Velde, R. V. D., Vermeulen, G., Visser, U., Voorhoeve, P., Walker, J., Weill, J., Weisner, T., Werner, A., Williams, T., Woodhead, H., and Oddegard, R.

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Internal Medicine
Abstract

Background: KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP-sensitive potassium channel activation. 90% of patients successfully transfer from insulin to oral sulfonylureas with excellent initial glycaemic control; however, whether this control is maintained in the long term is unclear. Sulfonylurea failure is seen in about 44% of people with type 2 diabetes after 5 years of treatment. Therefore, we did a 10-year multicentre follow-up study of a large international cohort of patients with KCNJ11 permanent neonatal diabetes to address the key questions relating to long-term efficacy and safety of sulfonylureas in these patients. Methods: In this multicentre, international cohort study, all patients diagnosed with KCNJ11 permanent neonatal diabetes at five laboratories in Exeter (UK), Rome (Italy), Bergen (Norway), Paris (France), and Krakow (Poland), who transferred from insulin to oral sulfonylureas before Nov 30, 2006, were eligible for inclusion. Clinicians collected clinical characteristics and annual data relating to glycaemic control, sulfonylurea dose, severe hypoglycaemia, side-effects, diabetes complications, and growth. The main outcomes of interest were sulfonylurea failure, defined as permanent reintroduction of daily insulin, and metabolic control, specifically HbA 1c and sulfonylurea dose. Neurological features associated with KCNJ11 permanent neonatal diabetes were also assessed. This study is registered with ClinicalTrials.gov, number NCT02624817. Findings: 90 patients were identified as being eligible for inclusion and 81 were enrolled in the study and provided long-term (>5·5 years cut-off) outcome data. Median follow-up duration for the whole cohort was 10·2 years (IQR 9·3–10·8). At most recent follow-up (between Dec 1, 2012, and Oct 4, 2016), 75 (93%) of 81 participants remained on sulfonylurea therapy alone. Excellent glycaemic control was maintained for patients for whom we had paired data on HbA 1c and sulfonylurea at all time points (ie, pre-transfer [for HbA 1c ], year 1, and most recent follow-up; n=64)—median HbA 1c was 8·1% (IQR 7·2–9·2; 65·0 mmol/mol [55·2–77·1]) before transfer to sulfonylureas, 5·9% (5·4–6·5; 41·0 mmol/mol [35·5–47·5]; p

Published
2018

24. Síndrome de insulinorresistencia severa tipo A debido a mutación del gen del receptor de insulina

Author

Jesús Argente, Purificación Ros, Barbetti F, Grasso, and E. Colino-Alcol

Subjects
medicine.medical_specialty, biology, business.industry, Acanthosis nigricans, Insulin resistance, medicine.disease, Pediatrics, RJ1-570, Insulin receptor, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Hyperinsulinemia, Insulin receptor mutation, Donohue syndrome, Lipodystrophy, Hyperandrogenism, Receptor, business, Tyrosine kinase
Abstract

Resumen: Los síndromes monogénicos de insulinorresistencia sin lipodistrofia constituyen un grupo de entidades infrecuentes que incluyen los síndromes de Donohue o leprechaunismo, Rabson-Mendenhall y resistencia a la insulina tipo A. Se caracterizan por un amplio espectro fenotípico que asocia insulinorresistencia extrema y alteraciones hidrocarbonadas de grado variable.Presentamos un caso de resistencia a la insulina tipo A, caracterizado por resistencia insulínica grave, acantosis nigricans e hiperandrogenismo, debido a una mutación en heterocigosis en el exón 19 del gen del receptor de insulina que codifica para el dominio tirosinquinasa.Se destaca la elevada morbilidad de dicha entidad, a pesar de incluirse dentro del espectro menos grave de los síndromes genéticos de resistencia insulínica, así como la ausencia de una terapia satisfactoria. El estudio molecular revela el diagnóstico e informa del pronóstico y la supervivencia, factores ligados a la función residual del receptor, además de contribuir al desarrollo de nuevas dianas terapéuticas. Abstract: Insulin resistance syndromes without lipodystrophy are an infrequent and heterogeneous group of disorders with variable clinical phenotypes, associated with hyperglycemia and hyperinsulinemia. The three conditions related to mutations in the insulin receptor gene are leprechaunism or Donohue syndrome, Rabson-Mendenhall syndrome, and Type A syndrome.A case is presented on a patient diagnosed with type A insulin resistance, defined by the triad of extreme insulin resistance, acanthosis nigricans, and hyperandrogenism, carrying a heterozygous mutation in exon 19 of the insulin receptor gene coding for its tyrosine kinase domain that is crucial for the catalytic activity of the receptor.The molecular basis of the syndrome is reviewed, focusing on the structure-function relationships of the insulin receptor, knowing that the criteria for survival are linked to residual insulin receptor function. It is also pointed out that, although type A insulin resistance appears to represent a somewhat less severe condition, these patients have a high morbidity and their treatment is still unsatisfactory.

Published
2015

25. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

Author

Bowman, P, Sulen, A, Barbetti, F, Beltrand, J, Svalastoga, P, Codner, E, Tessmann, EH, Juliusson, PB, Skrivarhaug, T, Pearson, ER, Flanagan, SE, Babiker, T, Thomas, NJ, Shepherd, MH, Ellard, S, Klimes, I, Szopa, M, Polak, M, Iafusco, D, Hattersley, AT, Njolstad, PR, Houghton, J, Patel, KA, Mathews, F, De Franco, E, Ford, T, Pillai, JK, Finn, R, Chakera, A, Iotova, V, Malecki, MT, Klupa, T, Gasperikova, D, Stanik, J, Barak, L, Dankovcikova, A, Palko, M, Walker, J, Visser, U, Howard, N, Lafferty, T, Cummings, E, Guntamukkala, P, Rose, D, Hughes, N, Couch, B, Punthakee, Z, Van der Meulen, J, LeGault, L, Sanderson, S, Krishnaswamy, R, Ho, J, Modgil, G, Lambert, P, Shield, JPH, Hoddinott, R, Burrows, A, Chetan, R, Hakeem, V, Werner, A, Muther, S, Deiss, D, Raile, K, Weisner, T, Kapellen, T, Akkurt, I, Menzel, U, Klinge, A, Schmidt, D, Heffernan, E, Carson, D, Uehara, A, Hasegawa, S, Kuulasmaa, H, Tuomi, T, Vermeulen, G, Mul, D, Jaap, A, Hill, D, Hunter, I, Rincon, M, McVie, R, Williams, T, Saxena, V, Al-Abdullah, A, Tinklin, T, Kaufman, E, Davis, L, O'Riordan, S, O'Connell, SM, Holl, R, Schebek, M, De Gallen, B, Voorhoeve, P, Malievsky, O, Mathew, R, Abdul-Latif, H, Aisenberg, J, Ioacara, S, Cameron, FJ, Sanchez, J, Jones, K, Van der Velde, R, Van den Bergh, J, Woodhead, H, Tjora, E, Irgens, H, Hogåsen, AK, Odegard, R, Hathout, EH, Nuboer, R, Pruhova, S, Shehadeh, N, Silva, JMCL, Cave, H, Fauret, A-L, Hoarau, M, Coutant, R, Metz, C, Bertrand, A-M, Bruel, H, Cartigny, M, Weill, J, Bizzarri, C, Bonfanti, R, Cadario, F, Cauvin, V, Chiari, G, Delvecchio, M, Piccinno, E, Faleschini, E, Pesavento, R, Rabbone, I, Tumini, S, Bowman, P, Sulen, A, Barbetti, F, Beltrand, J, Svalastoga, P, Codner, E, Tessmann, EH, Juliusson, PB, Skrivarhaug, T, Pearson, ER, Flanagan, SE, Babiker, T, Thomas, NJ, Shepherd, MH, Ellard, S, Klimes, I, Szopa, M, Polak, M, Iafusco, D, Hattersley, AT, Njolstad, PR, Houghton, J, Patel, KA, Mathews, F, De Franco, E, Ford, T, Pillai, JK, Finn, R, Chakera, A, Iotova, V, Malecki, MT, Klupa, T, Gasperikova, D, Stanik, J, Barak, L, Dankovcikova, A, Palko, M, Walker, J, Visser, U, Howard, N, Lafferty, T, Cummings, E, Guntamukkala, P, Rose, D, Hughes, N, Couch, B, Punthakee, Z, Van der Meulen, J, LeGault, L, Sanderson, S, Krishnaswamy, R, Ho, J, Modgil, G, Lambert, P, Shield, JPH, Hoddinott, R, Burrows, A, Chetan, R, Hakeem, V, Werner, A, Muther, S, Deiss, D, Raile, K, Weisner, T, Kapellen, T, Akkurt, I, Menzel, U, Klinge, A, Schmidt, D, Heffernan, E, Carson, D, Uehara, A, Hasegawa, S, Kuulasmaa, H, Tuomi, T, Vermeulen, G, Mul, D, Jaap, A, Hill, D, Hunter, I, Rincon, M, McVie, R, Williams, T, Saxena, V, Al-Abdullah, A, Tinklin, T, Kaufman, E, Davis, L, O'Riordan, S, O'Connell, SM, Holl, R, Schebek, M, De Gallen, B, Voorhoeve, P, Malievsky, O, Mathew, R, Abdul-Latif, H, Aisenberg, J, Ioacara, S, Cameron, FJ, Sanchez, J, Jones, K, Van der Velde, R, Van den Bergh, J, Woodhead, H, Tjora, E, Irgens, H, Hogåsen, AK, Odegard, R, Hathout, EH, Nuboer, R, Pruhova, S, Shehadeh, N, Silva, JMCL, Cave, H, Fauret, A-L, Hoarau, M, Coutant, R, Metz, C, Bertrand, A-M, Bruel, H, Cartigny, M, Weill, J, Bizzarri, C, Bonfanti, R, Cadario, F, Cauvin, V, Chiari, G, Delvecchio, M, Piccinno, E, Faleschini, E, Pesavento, R, Rabbone, I, and Tumini, S

Abstract

BACKGROUND: KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP-sensitive potassium channel activation. 90% of patients successfully transfer from insulin to oral sulfonylureas with excellent initial glycaemic control; however, whether this control is maintained in the long term is unclear. Sulfonylurea failure is seen in about 44% of people with type 2 diabetes after 5 years of treatment. Therefore, we did a 10-year multicentre follow-up study of a large international cohort of patients with KCNJ11 permanent neonatal diabetes to address the key questions relating to long-term efficacy and safety of sulfonylureas in these patients. METHODS: In this multicentre, international cohort study, all patients diagnosed with KCNJ11 permanent neonatal diabetes at five laboratories in Exeter (UK), Rome (Italy), Bergen (Norway), Paris (France), and Krakow (Poland), who transferred from insulin to oral sulfonylureas before Nov 30, 2006, were eligible for inclusion. Clinicians collected clinical characteristics and annual data relating to glycaemic control, sulfonylurea dose, severe hypoglycaemia, side-effects, diabetes complications, and growth. The main outcomes of interest were sulfonylurea failure, defined as permanent reintroduction of daily insulin, and metabolic control, specifically HbA1c and sulfonylurea dose. Neurological features associated with KCNJ11 permanent neonatal diabetes were also assessed. This study is registered with ClinicalTrials.gov, number NCT02624817. FINDINGS: 90 patients were identified as being eligible for inclusion and 81 were enrolled in the study and provided long-term (>5·5 years cut-off) outcome data. Median follow-up duration for the whole cohort was 10·2 years (IQR 9·3-10·8). At most recent follow-up (between Dec 1, 2012, and Oct 4, 2016), 75 (93%) of 81 participants remained on sulfonylurea therapy alone. Excellent glycaemic control was maintained for patients for whom we had paired data on HbA1c and sulfonylurea at al

Published
2018

27. Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities

Author

Barbetti, F., Ghizzoni, L., Guaraldi, F., Barbetti, F., Ghizzoni, L., and Guaraldi, F.

Subjects
Diabetes Mellitus--congenital, Diabetes Complications, Genetic Diseases, Inborn--complications, Chromosome Aberrations, Insulin Resistance
Abstract

This volume, written by renowned experts, provides complete coverage of the main genetic conditions associated with diabetes. Divided into five sections, it offers insights into genetic defects involving the pancreatic beta cell, extreme insulin resistance, ciliopathies, obesity and glucose metabolism, chromosomal defects, and other genetic conditions associated with increased susceptibility to diabetes. Other topics include the various subtypes of monogenic diabetes, such as the neonatal form and the Wolfram syndrome, as well as chromosomal defects leading to complex conditions affiliated with diabetes, like Trisomy 21 or Prader-Willi syndrome. There are also chapters dedicated to the poorly explored relationships between metabolism and neurodegenerative disorders like Friedreich's ataxia and muscular dystrophy. This book is a reference for every pediatric and adult endocrinologist and diabetologist, even experienced ones, with an interest in the intricacies and protean aspects of disorders of glucose metabolism secondary to genetic diseases.

Published
2017

29. Iperinsulinismo congenito da mutazione in omozigosi di INS-R: descrizione di un caso

Author

Vitaliti M, Grasso V, Vitaliti G, Maresi MR, Mascellino E, Mancuso D, Barbetti F., MAGGIO, Maria Cristina, RINAUDO, Grazia, CORSELLO, Giovanni, Vitaliti M, Maggio MC, Grasso V, Vitaliti G, Maresi MR, Rinaudo G, Mascellino E, Mancuso D, Corsello G, and Barbetti F

Subjects
Settore MED/38 - Pediatria Generale E Specialistica, Iperinsulinismo congenito, omozigosi, INS-r
Published
2014

30. Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 years

Author

IAFUSCO, Dario, Salardi S, Chiari G, Toni S, Rabbone I, Pesavento R, Pasquino B, de Benedictis A, Maltoni G, Colombo C, Russo L, Massa O, Sudano M, Cadario F, Porta M, Barbetti F., Iafusco, Dario, Salardi, S, Chiari, G, Toni, S, Rabbone, I, Pesavento, R, Pasquino, B, de Benedictis, A, Maltoni, G, Colombo, C, Russo, L, Massa, O, Sudano, M, Cadario, F, Porta, M, and Barbetti, F.

Published
2014

31. Non autoimmune diabetes mellitus in pediatrics

Author

Iafusco, D, Confetto, S, Zanfardino, A, Piscopo, A, Casaburo, F, Cocca, A, Caredda, E, Pezzino, G, Tinto, N, Pirozzi, D, Napoli, A, Barbetti, F, and Perrone, L

Subjects
Settore MED/13
Published
2016

32. Consulenza genetica e diabete

Author

Barbetti, F, Buzzetti, R, Cerutti, F, Copetti, M, Dauriz, M, Penno, G, and Trischitta, V

Subjects
Settore MED/13, Settore MED/03
Published
2016

35. Permanent diabetes mellitus in the first year of life

Author

Iafusco, D., Stazi, M., Cotichini, R., Cotellessa, M., Martinucci, M., Mazzella, M., Cherubini, V., Barbetti, F., Martinetti, M., Cerutti, F., Prisco, F., and and the Early Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology

Published
2003
Full Text
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36. Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF)

Author

Pinelli M, Acquaviva F, Barbetti F, Caredda E, Cocozza S, Delvecchio M, Mozzillo E, Pirozzi D, Prisco F, Rabbone I, Sacchetti L, Tinto N, Toni S, Zucchini S, Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology, Diabetology, IAFUSCO, Dario, Pinelli, M, Acquaviva, F, Barbetti, F, Caredda, E, Cocozza, S, Delvecchio, M, Mozzillo, E, Pirozzi, D, Prisco, F, Rabbone, I, Sacchetti, L, Tinto, N, Toni, S, Zucchini, S, Iafusco, Dario, Italian Study Group on Diabetes of the Italian Society of Pediatric, Endocrinology, and Diabetology

Abstract

MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5–1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients’ quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing. We designed and validated a diagnostic flowchart in the attempt to improve the detection rate and to increase the number of properly requested tests. The flowchart, called 7-iF, consists of 7 binary ‘‘yes or no’’ questions and its unequivocal output is an indication for whether testing or not. We tested the 7-iF to estimate its clinical utility in comparison to the clinical suspicion alone. The 7-iF, in a prospective 2-year study (921 diabetic children) showed a precision of about the 76%. Using retrospective data, the 7-iF showed a precision in identifying MODY2 patients of about 80% compared to the 40% of the clinical suspicion. On the other hand, despite a relatively high number of missing MODY2 patients, the 7-iF would not suggest the test for 90% of the non-MODY2 patients, demonstrating that a wide application of this method might 1) help less experienced clinicians in suspecting MODY2 patients and 2) reducing the number of unnecessary tests. With the 7-iF, a clinician can feel confident of identifying a potential case of MODY2 and suggest the molecular test without fear of wasting time and money. A Qaly-type analysis estimated an increase in the patients’ quality of life and savings for the health care system of about 9 million euros per year.

Published
2013

38. Loss-of-function mutations in the APPL1 gene in familial diabetes mellitus

Author

Prudente, S, Jungtrakoon, P, Marucci, A, Ludovico, O, Buranasupkajorn, P, Mazza, T, Hastings, T, Milano, T, Morini, E, Mercuri, L, Bailetti, D, Mendonca, C, Alberico, F, Basile, G, Romani, M, Miccinilli, E, Pizzuti, A, Carella, M, Barbetti, F, Pascarella, S, Marchetti, P, Trischitta, V, Di Paola, R, and Doria, A

Subjects
Settore MED/13 - Endocrinologia
Published
2015

40. Diabete tipo 1, tipo 2 e tipo X. Ipeglicemia in età pediatrica: quale diabete ?

Author

Iafusco, D, Barbetti, F, Massimi, A, Grasso, V, Rabbone, I, Casaburo, F, Cocca, A, Confetto, S, Galderisi, A, Paccone, A, Picariello, S, Piscopo, A, Russo, L, Villano, P, Zanfardino, A, Prisco, F, Tinto, N, Mazzaccara, C, Pirozzi, D, De Sanctis, P, Pinelli, M, Acquaviva, F, and Sacchetti, L

Subjects
Settore MED/13, Settore MED/03
Published
2015

41. Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF)

Author

Pinelli, M, Acquaviva, F, Barbetti, F, Caredda, E, Cocozza, S, Delvecchio, M, Mozzillo, E, Pirozzi, D, Prisco, F, Rabbone, I, Sacchetti, L, Tinto, N, Toni, S, Zucchini, S, Iafusco, D, Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology, Diabetology, Biagioni, M, Carloni, I, Cester, Am, Cherubini, V, Giorgetti, C, Iannilli, A, Bruzzese, M, Mammì, F, Guasti, M, Lenzi, L, Pepe, R, Piccini, B, Benelli, M, Cadario, F, Calcaterra, V, Cerutti, F, Sicignano, S, Mammì, C, Lazzaro, N, Comberiati, P, Scaramuzza, A, Zuccotti, G, Redaelli, F, Gallo, F, Cappa, M, Patera, P, Schiaffini, R, Cardella, F, Salvo, C, De Marco, R, Chessa, M, Frongia, P, Ricciardi, Mr, Ripoli, C, Zedda, Ma, Citriniti, F, Chiarelli, F, Tumini, S, Coccioli, Ms, De Berardinis, F, Santoro, E, DE LUCA, Filippo, Lombardo, Fortunato, Salzano, Giuseppina, Felappi, B, Prandi, E, Frezza, E, Piccinno, E, Torelli, C, Zecchino, C, Galderisi, A, Monciotti, C, Ingletto, D, Kaufmann, P, Pasquino, B, Lera, R, Lucchesi, S, Perrotta, A, Salardi, S, Scipioni, M, Luceri, S, Stamati, F, Pianese, L, Piceno, A, Tomaselli, L, Vergerio, A, Casaburo, F, Cocca, A, Confetto, S, Forgione, E, Pelliccia, C, Picariello, S, Pisani, F, Piscopo, A, Villano, P, Zanfardino, A, Buono, P, Franzese, A, Nugnes, R, Valerio, G, Maffeis, C, Marigliano, M, Chiari, G, Iovene, B, Vanelli, M., Pinelli, Michele, Acquaviva, Fabio, Barbetti, F, Caredda, E, Cocozza, Sergio, Delvecchio, M, Mozzillo, Enza, Pirozzi, Daniele, Prisco, F, Rabbone, I, Sacchetti, Lucia, Tinto, Nadia, Toni, S, Zucchini, S, and Iafusco, D.

Subjects
Genetics and Molecular Biology (all), Pediatrics, medicine.medical_specialty, Science, Cost-Benefit Analysis, Decision tree, Medicine (all), Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), Biochemistry, Maturity onset diabetes of the young, Settore MED/13 - Endocrinologia, Quality of life, Surveys and Questionnaires, Glucokinase, medicine, Humans, Genetic Testing, Prospective Studies, Age of Onset, Prospective cohort study, Child, Wasting, Children, Genetic testing, Retrospective Studies, Glycated Hemoglobin, Multidisciplinary, MODY2, medicine.diagnostic_test, business.industry, Decision Trees, Retrospective cohort study, medicine.disease, Test (assessment), Diabetes Mellitus, Type 2, Italy, Child, Preschool, Mutation, Quality of Life, Medicine, Female, medicine.symptom, business, gene testing, Research Article
Abstract

MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5-1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients' quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing. We designed and validated a diagnostic flowchart in the attempt to improve the detection rate and to increase the number of properly requested tests. The flowchart, called 7-iF, consists of 7 binary "yes or no" questions and its unequivocal output is an indication for whether testing or not. We tested the 7-iF to estimate its clinical utility in comparison to the clinical suspicion alone. The 7-iF, in a prospective 2-year study (921 diabetic children) showed a precision of about the 76%. Using retrospective data, the 7-iF showed a precision in identifying MODY2 patients of about 80% compared to the 40% of the clinical suspicion. On the other hand, despite a relatively high number of missing MODY2 patients, the 7-iF would not suggest the test for 90% of the non-MODY2 patients, demonstrating that a wide application of this method might 1) help less experienced clinicians in suspecting MODY2 patients and 2) reducing the number of unnecessary tests. With the 7-iF, a clinician can feel confident of identifying a potential case of MODY2 and suggest the molecular test without fear of wasting time and money. A Qaly-type analysis estimated an increase in the patients' quality of life and savings for the health care system of about 9 million euros per year.

Published
2012

42. Minimal Incidence of neonatal /infancy onset diabetes in Italy is 1:90000 live births

Author

Iafusco D, Massa O, Pasquino B, Colombo C, Iughetti L, Bizzarri C, Mammi C, Lo Presti D, Suprani T, Schiaffini R, Nichols CG, Russo L, Grasso V, Meschi F, Bonfanti R, Brescianini S, Barbetti F., Iafusco, D, Massa, O, Pasquino, B, Colombo, C, Iughetti, L, Bizzarri, C, Mammi, C, Lo Presti, D, Suprani, T, Schiaffini, R, Nichols, Cg, Russo, L, Grasso, V, Meschi, F, Bonfanti, R, Brescianini, S, and Barbetti, F.

Published
2011

43. Mutational Analysis of KATP Channel in Patients with Transient Neonatal Diabetes and Assessment of Minimal Incidence of Neonatal Diabetes in Italy

Author

RUSSO L, PASQUINO B, IAFUSCO, Dario, IUGHETTI L, CERUTTI F, MESCHI F, SCHIAFFINI R, MASSA O, CALCATERRA V, COLIN G. NICHOLS, STAZI MA, BRESCIANINI S, CADARIO F, GRASSO V, BARBETTI F., American Diabetes Association, Russo, L, Pasquino, B, Iafusco, Dario, Iughetti, L, Cerutti, F, Meschi, F, Schiaffini, R, Massa, O, Calcaterra, V, COLIN G., Nichol, Stazi, Ma, Brescianini, S, Cadario, F, Grasso, V, and Barbetti, F.

Abstract

Results: Neonatal/Infancy onset diabetes mellitus (NDM) is a genetic form of diabetes with onset within 6 months from birth. Two distinct types of NDM are recognized: permanent (PNDM) and transient (TNDM). In TNDM remission of hyperglycemia usually occurs within 6 months from diagnosis. TNDM is frequently caused by paternal isodisomy of chromosome 6 and PNDM by mutations of insulin gene, but both condition can be associated with gain-of-function mutations in genes encoding the subunits of the KATP channel, KCNJ11 and ABCC8. Incidence of PNDM in Italy is 1:210.000. ABCC8 and KCNJ11 genes were screened in 14 patients with TNDM. Minimal incidence of NDM was calculated counting patients with PNDM and TNDM born in Italy between 2005 and 2009 and referred to our laboratory for genetic screening by members of the Italian study group on diabetes of ISPED. We identified mutations in 10 patients with TNDM: three heterozygous mutations of KCNJ11 (R50Q [x2], E229K, E179K) in 4 subjects and 7 heterozygous mutations of ABCC8 (H105Y, S459R, T540I, R826W, R1380C, R1380H, V1523M) in 6 patients (1 compound het. for H105 and T540I). In these 10 patients, duration of insulin therapy ranged between 17 day and 8 months. No difference in mode of presentation of diabetes was found between patients with TNDM or PNDM (29 subjects) due to mutations of KATP channel identified in our laboratory. Mild hyperglycemia (

Published
2011

44. Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families

Author

Lorini, R., Klersy, C., D'Annunzio, G., Massa, O., Minuto, N., Iafusco, D., Bellanne Chantelot, C., Frongia, A. P., Toni, S., Meschi, F., Cerutti, F., Barbetti, F., Pediatric Endocrinology Italian Society, O. F., Diabetology Study Group, Sulli, Nicoletta, Lorini, R, Klersy, C, D'Annunzio, G, Massa, O, Minuto, N, Iafusco, D, Bellannè Chantelot, C, Franzese, Adriana, Frongia, Ap, Toni, S, Meschi, F, Cerutti, F, Barbetti, F, Italian Society of Pediatric, Endocrinology, and Diabetology Study, G. r. o. u. p.

Published
2009

47. Mutazioni nel gene APPL1 e diabete mellito familiare dell’adulto

Author

Prudente, S., Jungtrakoon, P., Marucci, A., Ludovico, O., Mazza, T., Hastings, T., Morini, E., Mercuri, L., Bailetti, Diego, Mendonca, C., Alberico, F., Basile, Giorgio, Romani, M., Miccinilli, E., Carella, M., Barbetti, F., Trischitta, Vincenzo, Di Paola, R., and Doria, A.

Subjects
Familiare, Genetica, Diabete
Published
2014

48. Mutations in APPL1 gene may contribute to familial diabetes mellitus

Author

Prudente, S., Jungtrakoon, P., Marucci, A., Ludovico, O., Mazza, T., Hastings, T., Morini, E., Mercuri, L., Bailetti, Diego, Mendonca, C., Alberico, F., Basile, Giorgio, Romani, M., Miccinilli, E., Carella, M., Barbetti, F., Trischitta, Vincenzo, Di Paola, R., and Doria, A.

Published
2014

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