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5 results on '"Redaelli F"'

1. 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

2. Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia

Author

Crippa, F., Panzeri, C., Martinuzzi, A., Arnoldi, A., Redaelli, F., Tonelli, A., Baschirotto, C., Vazza, G., Mostacciuolo, M. L., Daga, A., Orso, G., Profice, P., Trabacca, A., D'Angelo, M., G, ., Comi, G. P, Galbiati, S., Lamperti, C., Bonato, S., Pandolfo, M., Meola, G., Musumeci, Olimpia, Toscano, Antonio, Trevisan, C. P., Bresolin, N., and Bassi, M. T

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Spastin, Hereditary spastic paraplegia, DNA Mutational Analysis, PROTEIN, INTERACTS, FREQUENT, medicine.disease_cause, Exon, chemistry.chemical_compound, GENE MUTATIONS, PARAPARESIS, SPECTRUM, FORM, Degenerative disease, Arts and Humanities (miscellaneous), GENE-MUTATIONS, medicine, Humans, Gene, Aged, Adenosine Triphosphatases, Family Health, Genetics, Mutation, Spastic Paraplegia, Hereditary, Genetic heterogeneity, business.industry, Exons, Middle Aged, medicine.disease, Italy, chemistry, Female, Neurology (clinical), business, DNA
Abstract

Background Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive spasticity of the lower limbs. Mutations in the SPG4 gene, which encodes spastin protein, are responsible for up to 45% of autosomal dominant cases. Objective To search for disease-causing mutations in a large series of Italian patients with HSP. Design Samples of DNA were analyzed by direct sequencing of all exons in SPG4 . Samples from a subset of patients were also analyzed by direct sequencing of all exons in SPG3A, SPG6, SPG10 , and SPG13 . Setting Molecular testing facility in Italy. Patients Sixty unrelated Italian patients with pure (n = 50) and complicated (n = 10) HSP. Main Outcome Measures Mutations in SPG4, SPG3A, SPG6, SPG10 , and SPG13 . Results We identified 12 different mutations, 8 of which were novel, in 13 patients. No mutations of any of the other HSP genes tested were found in 15 patients with sporadic pure HSP who did not have mutations in the SPG4 gene. Conclusions The overall rate of mutation in the SPG4 gene within our sample was 22%, rising to 26% when only patients with pure HSP were considered. The negative result obtained in 15 patients without mutations in SPG4 in whom 4 other genes were analyzed ( SPG3A, SPG6, SPG10 , and SPG13 ) indicate that these genes are not frequently mutated in sporadic pure HSP.

3. Type 1 diabetes onset in Lombardy region, Italy, during the COVID-19 pandemic: The double-wave occurrence

Author

Barbara Felappi, Carmelo Pistone, Roberta Cardani, Silvia Sordelli, Chiara Mameli, Lucia Paola Guerraggio, Ilaria Brambilla, Valeria Calcaterra, Francesca Redaelli, Maddalena Macedoni, Patrizia Boracchi, Andrea Scaramuzza, Giuseppe Marano, Gian Vincenzo Zuccotti, Daniele Spiri, Giulio Frontino, Ciretta Pelliccia, Ester Luconi, Andrea Rigamonti, Patrizia Macellaro, Anna Cogliardi, Maria Zampolli, Riccardo Bonfanti, Elena Calzi, Elia Biganzoli, Mameli, C., Scaramuzza, A., Macedoni, M., Marano, G., Frontino, G., Luconi, E., Pelliccia, C., Felappi, B., Guerraggio, L. P., Spiri, D., Macellaro, P., Chiara Redaelli, F., Cardani, R., Zampolli, M., Calcaterra, V., Sordelli, S., Calzi, E., Cogliardi, A., Brambilla, I., Pistone, C., Rigamonti, A., Boracchi, P., Biganzoli, E., Zuccotti, G. V., and Bonfanti, R.

Subjects
Pediatrics, medicine.medical_specialty, Type 1 diabetes, Medicine (General), Diabetic ketoacidosis, Coronavirus disease 2019 (COVID-19), business.industry, Incidence (epidemiology), COVID-19, General Medicine, medicine.disease, Age and sex, New-onset, R5-920, Epidemiology, Pandemic, medicine, Cumulative incidence, business, Children, Research Paper
Abstract

Background The Italian Lombardy region has been the epicenter of COVID-19 since February 2020. This study analyses the epidemiology of pediatric type 1 diabetes (T1D) onset during the first two pandemic waves and three previous years. Methods All the 13 pediatric diabetes centers in Lombardy prospectively evaluated charts of children at T1D onset (0–17 years), during year 2020. After calculating the annual incidence, the data were compared with those of the 3 previous years, using generalized linear models, adjusted for age and sex. Monthly T1D new onsets and diabetic ketoacidosis (DKA) were investigated yearly from 2017 to 2020. Data were extracted from outpatients charts of the pediatric diabetes centers and from the database of the national institute of statistics. Findings The estimated incidence proportion of T1D was 16/100·000 in 2020, compared to 14, 11 and 12 in 2019, 2018 and 2017, respectively. When adjusting for age and gender, the incidence was significantly lower in 2018 and 2017 compared to 2020 (adjusted incidence ratio: 0.73 and 0.77 respectively, with 95% CI: 0.63 to 0.84, and 0.67 to 0.83; p = 0·002 and p = 0·01), but no difference was found between the years 2020 and 2019. A reduction trend in the percentage of T1D diagnosis during the first wave (March-April) over the total year diagnoses was observed compared to previous years (11·7% in 2020, 17·7% in 2019, 14·1% in 2018 and 14·4% 2017). No difference was observed during the second wave (October-December) (32·8% in 2020, 33·8% in 2019, 34% in 2018, 30·7% in 2017). The proportion of DKA over the total T1D diagnoses during the second wave had higher trend than the first one (41·7% vs 33·3%), while severe DKA over the total DKA appeared higher during the first wave (60% vs 37·1%). Interpretation The study suggests an increase in the incidence of pediatric T1D in Lombardy throughout the past five years. Pandemic waves may have affected the clinical presentation at onset. Funding None.

Published
2021

4. 'CoVidentary': An online exercise training program to reduce sedentary behaviours in children with type 1 diabetes during the COVID-19 pandemic

Author

Crescenzo Cascella, Francesca Redaelli, Gian Vincenzo Zuccotti, Antonietta Chianese, Chiara Mameli, Maddalena Macedoni, Valeria Calcaterra, Vittoria Carnevale Pellino, Dario Iafusco, Gianluca Tornese, Matteo Vandoni, Calcaterra, V., Iafusco, D., Carnevale Pellino, V., Mameli, C., Tornese, G., Chianese, A., Cascella, C., Macedoni, M., Redaelli, F., Zuccotti, G., Vandoni, M., Calcaterra, Valeria, Iafusco, Dario, Carnevale Pellino, Vittoria, Mameli, Chiara, Tornese, Gianluca, Chianese, Antonietta, Cascella, Crescenzo, Macedoni, Maddalena, Redaelli, Francesca, Zuccotti, Gianvincenzo, and Vandoni, Matteo

Subjects
medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Endocrinology, Diabetes and Metabolism, Diseases of the endocrine glands. Clinical endocrinology, Children with type 1 diabetes, COVID-19, Disease management, Physical activity level, Sedentary behaviour, Endocrinology, Exercise program, Pandemic, medicine, Sedentary time, Type 1 diabetes, Children with type 1 diabete, business.industry, Anthropometry, medicine.disease, RC648-665, Special Issue: COVID19 and Endocrinology, Physical therapy, Training program, business
Abstract

Highlights • Covid-19 restrictions disrupted physical activities in children with type 1 diabetes. • Diabetes management worsened in glycemia values and insulin delivery. • Active breaks rather than structured training may interrupt sedentary in children with type 1 diabetes., Aim We explored the physical activity (PA) level and the variation in glycaemic control in children with type 1 diabetes (T1D) before and during the lockdown. Then, we proposed an online training program supported by sport-science specialists. Methods Parents of children with T1D (

Published
2021

5. 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

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