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334 results on '"Meschi, F."'

2. Diabetic ketoacidosis at the onset of disease during a national awareness campaign: A 2-year observational study in children aged 0-18 years

Author

Rabbone I., Maltoni G., Tinti D., Zucchini S., Cherubini V., Bonfanti R., Scaramuzza A., Lera R., Bobbio A., Piccinno E., Reinstadler P., Felappi B., Prandi E., Gallo F., Frongia AP., Ripoli C., Lo Presti D., Tomaselli L., Cardinale G., Stamati FA., Citriniti F., Suprani T., Graziani V., De Berardinis F., Zampolli M., De Marco R., Cavalli C., Lazzaro N., De Donno V., Toni S., Piccini B., Lenzi L., Mainetti B., Coccioli MS., d'Annunzio G., Minuto N., Aloe S., Lucchesi D., Cirillo S., Sordelli M., Del Vecchio F., Salzano LG., Meschi F., Iughetti L., Predieri B., Franzese A., Mozzillo Enza., Iafusco D., Cadario F., Savastio S., Piredda G., Cardella F., Iovane B., Calcaterra V., Berioli MG., Biagioni M., Randazzo E., Patera I., Schiaffini R., Rutigliano I., Lasagni A., Innaurato S., Gaiero A., Fichera G., Trada M., Guerraggio L., Cauvin V., Franceschi R., Tornese G., Salvatoni A., Marigliano M., Sabbion A., Maffeis C., Arnaldi C., Rabbone, I., Maltoni, G., Tinti, D., Zucchini, S., Cherubini, V., Bonfanti, R., Scaramuzza, A., Lera, R., Bobbio, A., Piccinno, E., Reinstadler, P., Felappi, B., Prandi, E., Gallo, F., Frongia, Ap., Ripoli, C., Lo Presti, D., Tomaselli, L., Cardinale, G., Stamati, Fa., Citriniti, F., Suprani, T., Graziani, V., De Berardinis, F., Zampolli, M., De Marco, R., Cavalli, C., Lazzaro, N., De Donno, V., Toni, S., Piccini, B., Lenzi, L., Mainetti, B., Coccioli, Ms., D'Annunzio, G., Minuto, N., Aloe, S., Lucchesi, D., Cirillo, S., Sordelli, M., Del Vecchio, F., Salzano, Lg., Meschi, F., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, Enza., Iafusco, D., Cadario, F., Savastio, S., Piredda, G., Cardella, F., Iovane, B., Calcaterra, V., Berioli, Mg., Biagioni, M., Randazzo, E., Patera, I., Schiaffini, R., Rutigliano, I., Lasagni, A., Innaurato, S., Gaiero, A., Fichera, G., Trada, M., Guerraggio, L., Cauvin, V., Franceschi, R., Tornese, G., Salvatoni, A., Marigliano, M., Sabbion, A., Maffeis, C., Arnaldi, C., Rabbone, Ivana, Maltoni, Giulio, Tinti, Davide, Zucchini, Stefano, Cherubini, Valentino, Bonfanti, Riccardo, Scaramuzza, Andrea, Lera, Riccardo, Bobbio, Adriana, Piccinno, Elvira, Reinstadler, Petra, Felappi, Barbara, Prandi, Elena, Gallo, Francesco, Frongia, Anna Paola, Ripoli, Carlo, Lo Presti, Donatella, Tomaselli, Letizia, Cardinale, Giuliana, Stamati, Filomena Andreina, Citriniti, Felice, Suprani, Tosca, Graziani, Vanna, De Berardinis, Fiorella, Zampolli, Maria, De Marco, Rosaria, Cavalli, Claudio, Lazzaro, Nicola, De Donno, Valeria, Toni, Sonia, Piccini, Barbara, Lenzi, Lorenzo, Mainetti, Benedetta, Coccioli, Maria Susanna, D’Annunzio, Giuseppe, Minuto, Nicola, Aloe, Monica, Lucchesi, Sonia, Cirillo, Dante, Sordelli, Silvia, Delvecchio, Maurizio, Lombardo, Fortunato, Salzano, Giusy, Meschi, Franco, Iughetti, Lorenzo, Predieri, Barbara, Franzese, Adriana, Mozzillo, Enza, Iafusco, Dario, Cadario, Francesco, Savastio, Silvia, Cardella, Francesca, Iovane, Brunella, Calcaterra, Valeria, Berioli, Maria Giulia, Biagioni, Martina, Randazzo, Emioli, Patera, Ippolita Patrizia, Schiaffini, Riccardo, Rutigliano, Irene, Lasagni, Anna, Innaurato, Silvia, Gaiero, Alberto, Fichera, Grazziella, Trada, Michela, Guerraggio, Lucia, Cauvin, Vittoria, Franceschi, Roberto, Tornese, Gianluca, Salvatoni, Alessandro, Marigliano, Marco, Sabbion, Alberto, Maffeis, Claudio, and Arnaldi, Claudia

Subjects
Blood Glucose, Male, medicine.medical_specialty, Pediatrics, endocrine system diseases, Diabetic ketoacidosis, Adolescent, 030209 endocrinology & metabolism, Disease, 03 medical and health sciences, 0302 clinical medicine, diabetic ketoacidosis, Patient Education as Topic, Diabetes mellitus, Epidemiology, Medicine, Humans, 030212 general & internal medicine, Prospective Studies, Child, Type 1 diabetes, diabetes, business.industry, Incidence (epidemiology), Incidence, epidemiology, Infant, Newborn, diabetic ketoacidosi, nutritional and metabolic diseases, Infant, medicine.disease, Diabetes Mellitus, Type 1, Italy, diabete, Child, Preschool, Pediatrics, Perinatology and Child Health, Observational study, Female, business, Prevention campaign
Abstract

ObjectiveAfter a previous survey on the incidence of diabetic ketoacidosis (DKA) at onset of type 1 diabetes in children in 2013–2014 in Italy, we aimed to verify a possible decline in the incidence of DKA at onset during a national prevention campaign.DesignProspective observational study.SettingMulticentre study throughout Italy.InterventionNational awareness campaign started in November 2015 and held until December 2017.PatientsDuring 2016 and 2017 we collected data on all patients aged 0–18 years with new-onset diabetes.Main outcome measuresDKA (pH ResultsRecords (n=2361) of children with newly diagnosed type 1 diabetes were collected from 58 out of 68 (85.3%) centres of the original survey participants and 100% of the previously surveyed tertiary centres. Overall, DKA was observed in 1124 patients, with an increased rate when compared with the previous survey (47.6% vs 38.5%, p=0.002), and severe DKA in 15.3%. In children below 6 years, DKA was observed in 323 out of 617 (52.5%) and severe DKA in 16.7%; in this age group, occurrence of DKA reduced by 21.3% (p=0.009). DKA treatment according to the ISPED guidelines was adopted in 95% of the centres, with a 27% improvement (p=0.025).ConclusionsDuring a 2-year awareness campaign, DKA at onset of diabetes in children and adolescents 0–18 years is still common and increased when compared with the 2013–2014 survey.

Published
2020

5. The implementation of international standardization of glycated hemoglobin. A “red-letter-day” for glycated hemoglobin in Italy: 1/1/11 Italian Recommendations of GLAD Working Group (A1c delegates WG)

Author

Mosca, A., Iafusco, D., Meschi, F., Branca, M. T., Carta, M., Genna, M. L., Giorda, C. B., Ghidelli, R., Ghislandi, G., Lapolla, A., Lombardi, V. Buondonno, Lovagnini, C. A., Marra, M., Medea, G., Pizzini, A., Rossi, F., Scalpone, R., Tofini, G., Trovati, M., Zaninotto, M., and GLAD (Gruppo di LAvoro dei Delegati) Working Group (A1c delegates WG)

Published
2012
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6. 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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14. Variation by age group and seasonally at diagnosis of childhood IDDM in Europe

Author

Lévy-Marchal, C., Patterson, C., Green, A., Schober, E., Ullreich, G., Vandewalle, C., Svendsen, A., Lounamaa, R., Tuomilehto, J., Åkerblom, H. K., Czernichow, P., Levy-Marchal, C., de Beaufort, C., Doutreix, J., Voirin, J., Bartsocas, C. S., Dakou-Voutetakis, C., Pantelakis, S., Theodoridis, H., Kassiou, K., Kyriakou, P., Kyriakou, A., Papazoglou, N., Manes, C. H., Papadeli, E., Scaragas, G., Gotsis, N., Soltesz, G., Laron, Z., Gordon, O., Shohat, T., Chiumello, G., Bognetti, E., Meschi, F., Malavasi, C., Balzano, E., Pozzilli, P., Visalli, N., Suppa, A., Guglielmi, A., Sebastiani, M. L., Songini, M., Loche, M., Silvetti, M., Angius, E., Purrello, F., Arpi, M., Italia, S., Tomaselli, L., Mancuso, M., Michel, G., Wirion, R., Reeser, M., Joner, G., Sovik, R. O., Woznicka, D., Walczak, M., Woznicki, G., Stankiewicz, W., Kedzia, A., Szybinski, Z., Czyzyk, A., Wasik, R., Abreu, S., Menezes, C., Pina, E., Ionescu-Tirgoviste, C., Dragomirescu, C., Nicolau, A., Krzisnik, C., Battelino, T., Bratanic, N., Goday, A., Castell, C., Tresserras, R., Taberner, J. L., Lloveras, G., Hadden, D., Patterson, C., Carson, D., and Bingley, P.

Published
1995
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20. Analysis of a cohort of pediatric patients treated with continuous subcutaneous insulin infusion

Author

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

Subjects
Type 1 diabetes, Insulin pump, Children
Abstract

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

Published
2015

21. Hypoglycemia in insulin-dependent diabetic children

Author

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

Subjects
Type 1 diabetes mellitus, Children, Hypoglycemia
Abstract

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

Published
2015

25. Vademecum del giovane diabetico

Author

Bonfanti R, Meschi F, Rigamonti A, Chiumello G., Bonfanti, R, Meschi, F, Rigamonti, A, and Chiumello, G.

Published
2012

26. The implementation of international standardization of glycated hemoglobin. A 'red-letter-day' for glycated hemoglobin in Italy: 1/1/11. Italian Recommendations of GLAD Working Group (A1c delegates WG)

Author

Mosca A, IAFUSCO, Dario, Meschi F, Branca MT, Carta M, Genna ML, Giorda CB, Ghidelli R, Ghislandi G, Lapolla A, Buondonno Lombardi V, Lovagnini CA, Marra M, Medea G, Pizzini A, Rossi F, Scalpone R, Tofini G, Trovati M, Zaninotto M, GLAD Working Group, Mosca, A, Iafusco, Dario, Meschi, F, Branca, Mt, Carta, M, Genna, Ml, Giorda, Cb, Ghidelli, R, Ghislandi, G, Lapolla, A, Buondonno Lombardi, V, Lovagnini, Ca, Marra, M, Medea, G, Pizzini, A, Rossi, F, Scalpone, R, Tofini, G, Trovati, M, Zaninotto, M, and GLAD Working, Group

Subjects
Glycated Hemoglobin, Health Planning Guidelines, Italy, Humans, Congresses as Topic, Reference Standards
Published
2011

27. 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

28. 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

29. The implementation of International standardization of glycated hemoglobin. A 'red-letter-day' for HbA1c in Italy: 1/1/11 Italian Recommendations of GLAD Working Group (A1c delegates WG)

Author

GLAD Working Group, Mosca, A, Iafusco, D, Meschi, F, Branca, Mt, Carta, M, Genna, Ml, Giorda, Cb, Ghidelli, R, Ghislandi, G, Lapolla, A, Buondonno Lombardi, V, Lovagnini, Ca, Marra, M, Medea, G, Pizzini, A, Rossi, F, Scalpone, R, Tofini, G, Trovati, Mariella, Zaninotto, M., GLAD GRUPPO DI LAVORO DEI DELEGATI WORKING GROUP AC DELEGATES, Wg, Mosca, A, Iafusco, Dario, Meschi, F, Branca, Mt, Carta, M, Genna, Ml, Giorda, Cb, Ghidelli, R, Ghislandi, G, Lapolla, A, BUONDONNO LOMBARDI, V, Lovagnini, Ca, Marra, M, Medea, G, Pizzini, A, Rossi, F, Scalpone, R, Tofini, G, Trovati, M, and Zaninotto, M.

Subjects
standardization, glycated hemoglobin, diabetes mellitus, guideline implementation
Published
2011

30. Recommendations for the implementation of international standardization of glycated hemoglobin in Italy

Author

GLAD WORKING GROUP AC DELEGATES WG, MOSCA A, BRANCA MT, CARTA M, GENNA ML, GIORDA CB, GHIDELLI R, GHISLANDI G, IAFUSCO, Dario, LAPOLLA A, LOMBARDI VB, LOVAGNINI, SCHER CA, MARRA M, MEDEA G, MESCHI F, PIZZINI A, ROSSI F, SCALPONE R, TOFINI G, TROVATI M, ZANINOTTO M., GLAD WORKING GROUP AC DELEGATES, Wg, Mosca, A, Branca, Mt, Carta, M, Genna, Ml, Giorda, Cb, Ghidelli, R, Ghislandi, G, Iafusco, Dario, Lapolla, A, Lombardi, Vb, Lovagnini, Scher, Ca, Marra, M, Medea, G, Meschi, F, Pizzini, A, Rossi, F, Scalpone, R, Tofini, G, Trovati, M, and Zaninotto, M.

Subjects
Blood Glucose, medicine.medical_specialty, Standardization, Clinical Biochemistry, MEDLINE, Medical laboratory, Clinical Chemistry Tests, Diabetes Control and Complication Trial, Diagnostic Error, Clinical biochemistry, chemistry.chemical_compound, Reference Values, External quality assessment, medicine, Humans, external quality assessment, National Glycohemoglobin Standardization Program, Reference Value, Diagnostic Errors, Glycated Hemoglobin, Hemoglobin A, Glycosylated, business.industry, Environmental resource management, Biochemistry (medical), Timeline, General Medicine, Reference Standards, Clinical Chemistry Test, chemistry, Italy, Family medicine, Reference Standard, Glycated hemoglobin, business, International standardization, Human
Abstract

This document is issued by the Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC) and a number of other National Scientific Societies and Associations in order to promote a coordinated plan for implementing the standardization of glycated hemoglobin (HbA1c) measurement in Italy according to the recommendations by the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC). Changes in reporting HbA1c results, new units, how to relate old and new units, a timeline for changes and definition of the analytical goals are the main issues discussed. Clin Chem Lab Med 2010;48:623–6.

Published
2010

31. 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

35. Microinfusori nella terapia del diabete mellito

Author

Azzinari A, Bonfanti R, Bettini S, Biffi V, Piscopo MA, Rigamonti A, Meschi F, Viscardi M, Chiumello G., Azzinari, A, Bonfanti, R, Bettini, S, Biffi, V, Piscopo, Ma, Rigamonti, A, Meschi, F, Viscardi, M, and Chiumello, G.

Published
2007

37. the glucometer (il glucometro)

Author

Rigamonti A, Azzinari A, Bettini S, Biffi V, Bonfanti R, Piscopo MA, Viscardi M, Meschi F., Rigamonti, A, Azzinari, A, Bettini, S, Biffi, V, Bonfanti, R, Piscopo, Ma, Viscardi, M, and Meschi, F.

Published
2006

38. Il diabete a scuola

Author

Bonfanti R, Viscardi M, Meschi F, Chiumello G., Bonfanti, R, Viscardi, M, Meschi, F, and Chiumello, G.

Published
2006

39. Type 2 diabetes mellitus in children

Author

Piscopo M, Rigamonti A, Chiesa G, Bettini S, Azzinari A, Bonfanti R, Viscardi M, Meschi F, Chiumello G., Piscopo, M, Rigamonti, A, Chiesa, G, Bettini, S, Azzinari, A, Bonfanti, R, Viscardi, M, Meschi, F, and Chiumello, G.

Published
2005

40. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes

Author

MASSA O., D'AMATO E., GLOYN A., HATTERSLEY A., PASQUINO B., TONINI G., DAMMACCO F., ZANNETTE G., MESCHI F., PORZIO O., BOTTAZZO G., CRINO A., LORINI R., CERRUTTI F., VANELLI M., BARBETTI F., IAFUSCO, Dario, Massa, O., Iafusco, Dario, D'Amato, E., Gloyn, A., Hattersley, A., Pasquino, B., Tonini, G., Dammacco, F., Zannette, G., Meschi, F., Porzio, O., Bottazzo, G., Crino, A., Lorini, R., Cerrutti, F., Vanelli, M., and Barbetti, F.

Subjects
Kir6.2, gene kcnj11, Male, Potassium Channels, Developmental delay, adenosine triphosphate, DNA Mutational Analysis, KATP channel, KCNJ11, Neonatal diabetes, PNDM, amino acid, adolescent, article, autoimmune disease, child, clinical article, controlled study, developmental disorder, diabetes mellitus, female, gene, gene mutation, heterozygote, human, infant, insulin dependent diabetes mellitus, male, motor dysfunction, newborn disease, nucleotide sequence, permanent neonatal diabetes mellitus, priority journal, Diabetes Mellitus, Diabetes Mellitus, Type 1, Female, Humans, Infant, Infant, Newborn, Italy, Mutation, Potassium Channels, Inwardly Rectifying, Settore MED/13 - Endocrinologia, Settore BIO/12, Newborn, Inwardly Rectifying, neonatal diabete, Type 1
Abstract

Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase (GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM patients. Recently, heterozygous activating mutations of KCNJ11, encoding Kir6.2, the pore forming subunit of the ATP-dependent potassium (K(ATP)) channel of the pancreatic beta-cell, were found in patients with PNDM. Closure of the K(ATP) channel exerts a pivotal role in insulin secretion by modifying the resting membrane potential that leads to insulin exocytosis. We screened the KCNJ11 gene in 12 Italian patients with PNDM (onset within 3 months from birth) and in six patients with non-autoimmune, insulin-requiring diabetes diagnosed during the first year of life. Five different heterozygous mutations were identified: c.149G>C (p.R50P), c.175G>A (p.V59M), c.509A>G (p.K170R), c.510G>C (p.K170N), and c.601C>T (p.R201C) in eight patients with diabetes diagnosed between day 3 and 182. Mutations at Arg50 and Lys170 residues are novel. Four patients also presented with motor and/or developmental delay as previously reported. We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay. Permanent diabetes of non autoimmune origin can present up to 6 months from birth in individuals with KCNJ11 and EIF2AK3 mutations. Therefore, we suggest that the acronym PNDM be replaced with the more comprehensive permanent diabetes mellitus of infancy (PDMI), linking it to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion between patients with early-onset, autoimmune type 1 diabetes.

Published
2005

41. Younger age at onset and sex predict celiac disease in children and adolescents with type 1 diabetes. An italian multicenter study

Author

Cerutti F, Bruno G, Chiarelli F, Lorini R, Meschi F, Sacchetti C, the Diabetes Study Group of Italian Society of Pediatric Endocrinology, Diabetology Cherubini V, Bechaz M, Fifi AR, Pasquino B, Gallo F, Angius E, Chessa M, Zedda MA, La Loggia A, Mancuso M, Tumini S, Banin P, Martinucci M, Toni S, Mastrangelo C, Cotellessa M, Minicucci L, De Luca F, Lombardo F, Bonfanti R, Chiumello G, Prisco F, Cadario F, Monciotti C, D’Annunzio G, Crinò A, Marinaro AM, Ogana A, Rabbone I, Cauvin V, Valerio G., IAFUSCO, Dario, Cerutti, F, Bruno, G, Chiarelli, F, Lorini, R, Meschi, F, Sacchetti, C, the Diabetes Study Group of Italian Society of Pediatric, Endocrinology, Diabetology Cherubini, V, Bechaz, M, Fifi, Ar, Pasquino, B, Gallo, F, Angius, E, Chessa, M, Zedda, Ma, La Loggia, A, Mancuso, M, Tumini, S, Banin, P, Martinucci, M, Toni, S, Mastrangelo, C, Cotellessa, M, Minicucci, L, De Luca, F, Lombardo, F, Bonfanti, R, Chiumello, G, Iafusco, Dario, Prisco, F, Cadario, F, Monciotti, C, D’Annunzio, G, Crinò, A, Marinaro, Am, Ogana, A, Rabbone, I, Cauvin, V, and Valerio, G.

Published
2004

42. Diabete Mellito

Author

Chiumello G, Cerutti F, Chiarelli F, Dammacco F, Iughetti L, Lorini R, Meschi F, Pinelli L, Vanelli M, Bognetti E, Bonfanti R, Chiari G, Tomeselli F., Chiumello, G, Cerutti, F, Chiarelli, F, Dammacco, F, Iughetti, L, Lorini, R, Meschi, F, Pinelli, L, Vanelli, M, Bognetti, E, Bonfanti, R, Chiari, G, and Tomeselli, F.

Published
2001

44. Emerging effects of early environmental factors over genetic background for type 1 diabetes susceptibility: Evidence from a nationwide Italian twin study

Author

Nisticò, L, Iafusco, D, Galderisi, A, Fagnani, C, Cotichini, R, Toccaceli, V, Stazi, Ma, Study Group on Diabetes of the Italian Society of Pediatric Endocrinology, Collaborators: Cherubini V, D. i. a. b. e. t. o. l. o. g. y., Iannilli, A, Paparusso, Am, Cavallo, L, Zecchino, C, de Filippo, G, Gargantini, L, Salardi, S, Zucchini, S, Maltoni, G, Pasquino, B, Kaufmann, P, Buzi, F, Prandi, E, Gallo, F, Cicchetti, M, Castaldo, E, Citriniti, F, Chiarelli, F, Tumini, S, Di Stefano, A, Sperlì, D, De Marco, R, Banin, P, Toni, S, Lenzi, L, Del Vecchio, M, Lorini, R, D'Annunzio, G, Ingletto, D, Scaramuzza, A, Zuccotti, Gv, Chiumello, G, Meschi, F, Bonfanti, R, Frontino, G, de Luca, F, Lombardo, F, Salzano, G, Iughetti, L, Franzese, A, Buono, P, De Simone, I, Prisco, F, Cocca, A, Cadario, F, Monciotti, Cm, Savio, V, Cardella, F, Vanelli, M, Chiari, G, Errico, K, Iovane, B, Calcaterra, V, Citro, F, Cantoni, S, Marsciani, A, Cappa, M, Patera, Pi, Schiaffini, R, Sulli, N, Spoletini, M, Cerutti, Franco, Rabbone, I, Sicignano, S, Cauvin, V, Bellizzi, M, Tonini, G, Faleschini, E, Salvatoni, A, Pinelli, L, Maffeis, C, Contreas, G., Nisticò, L, Iafusco, D, Galderisi, A, Fagnani, C, Cotichini, R, Toccaceli, V, Stazi, Ma, and the Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and, Diabetology

Subjects
Adult, Male, Endocrinology, Diabetes and Metabolism, Biochemistry, Endocrinology, Clinical Biochemistry, Biochemistry (medical), medicine.medical_specialty, Adolescent, Child, Child, Preschool, Diabetes Mellitus, Type 1, Environment, Female, Humans, Infant, Kaplan-Meier Estimate, Twins, Dizygotic, Twins, Monozygotic, Genetic Predisposition to Disease, type 1 diabetes, Concordance, Population, Twins, Context (language use), Monozygotic, Internal medicine, Diabetes mellitus, Diabetes Mellitus, Dizygotic, medicine, Preschool, education, Type 1 diabetes, education.field_of_study, business.industry, medicine.disease, Twin study, Zygosity, Diabetes and Metabolism, Cohort, Environmental Exposures, business, Type 1
Abstract

Context:The incidence of type 1 diabetes has been increasing over time.Objective:We estimated the genetic and environmental components of type 1 diabetes susceptibility in a twin cohort of recent-onset cases to explore the sources of changing disease epidemiology.Design:We linked the population-based Italian Twin Registry with 14803 type 1 diabetes records from 36 pediatric diabetes care centers throughout Italy, except Sardinia, and identified 173 diabetic twins. Patients were positive for at least one autoantibody to islet cell, glutamate decarboxylase, tyrosine phosphatase, insulin, or zinc transporter 8 and were insulin dependent since their diagnosis. Zygosity was determined by DNA genotyping or by questionnaire.Outcome Measures:We estimated proband-wise concordance, cotwin recurrence risk with Kaplan-Meier method, and genetic and environmental proportions of susceptibility variance by structural equation models.Results:We recruited 104 diabetic twins (53 males) from 88 pairs (34 monozygotic, 54 dizygotic) and one triplet. The mean age at diagnosis was 8.1 yr (range 1.1-20.5 yr), and the median year of diagnosis was 2002. Proband-wise concordances were 45.5 and 16.4% in monozygotic and dizygotic pairs (P = 0.01). Recurrence risks in monozygotic and dizygotic cotwins were 37 and 12% after 10 yr from the proband's diagnosis (P = 0.005). Genetic contribution to type 1 diabetes susceptibility was 40% (95% confidence interval 8-78), and the shared and individual-specific environmental components were 51% (14-77) and 9% (4-19), respectively.Conclusions:In addition to the moderate genetic effects on type 1 diabetes susceptibility, our results draw attention to the substantial shared environmental effects, suggesting that exposures in fetal or early postnatal life may contribute to the increasing incidence of the disease.

Published
2012

46. Highlights from 'Italian Standards for the Treatment of Diabetes Mellitus 2009-2010'

Author

Bruno, G., De Micheli, A., Frontoni, S., Monge, L., Bonomo, M., De Cosmo, S., Grassi, G., Nicolucci, A., Aiello, A., Bertuzzi, F., Bonora, Enzo, Cimino, A., Cordera, R., de Bigontina, G., Di Bartolo, P., Dotta, F., Frittitta, L., Giaccari, A., Giorgino, F., Gruden, G., Marchetti, P., Meschi, F., Pellegrini, M. A., Rivellese, A., and Sesti, G.

Subjects
Diabetes mellitus, Evidence based practice, Practice Guideline, Diabetes mellitus therapy, Quality of healthcare
Published
2011

47. Permanent diabetes during the first year of life: multiple gene screening in 54 patients

Author

Russo, L, Iafusco, D, Brescianini, S, Nocerino, V, Bizzarri, C, Toni, S, Cerutti, F, Monciotti, C, Pesavento, R, Iughetti, L, Bernanrdini, L, Bonfanti, R, Gargantini, L, Vanelli, M, AGUILAR BRYAN, L, Stazi, Ma, Grasso, V, Colombo, C, Barbetti, F, the EARLY DIABETES STUDY GROUP LERA, R, Cherubini, V, Fifi, Ar, Torelli, C, Frezza, E, Cavallo, L, Zucchini, S, Pasquino, B, Kaufmann, P, Frongia, P, Zedda, N, Ripoli, C, LA LOGGIA, A, LO PRESTI, D, Pocecco, M, Chiarelli, F, Tumini, S, DEL DONNO, M, DE MARCO MR, Lenzi, L, Lorini, R, D'Annunzio, G, Lombardo, F, Meschi, F, Franzese, A, Buono, P, Prisco, F, Cadario, F, Cardella, F, Calcaterra, V, DE GIORGI, G, Federico, Giovanni, Cappa, M, Sulli, N, MANCA BITTI ML, Delvecchio, M, Cotellessa, M, Rabbone, I, Cauvin, V, Bellizzi, M, Tonini, G, Salvatoni, A, and Pinelli, L.

Published
2011

50. IL DIABETE MELLITO TIPO 2 (T2DM) IN ETÀ PEDIATRICA: LA CASISTICA DEL GRUPPO DI STUDIO DIABETOLOGIA S.I.E.D.P

Author

Cerutti1, F., Banin, P., Barbetti, F., Boccato, S., Bonfanti, R., Buono, P., Calcaterra, V., Cardella, F., Cardin, G. M., Cavallo, L., D’Annunzio, G., DE LUCA, Filippo, DEL VECCHIO, M., DE MARCO, R., Francese, A., Frongia, M. P., Iafusco, D., Lombardo, Fortunato, Lorini, R., Meschi, F., Monciotti, C., Prisco, F., Rabbone, I., Toni, S., and S. ZUCCHINI E. IL GRUPPO DI STUDIO DIABETOLOGIA S. I. E. D. P.

Published
2009

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