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3 results on '"Zavataro, L."'

1. Italian Cystic Fibrosis Registry. Report 2011-2014

Author

Barbara, Giordani, Annalisa, Amato, Fabio, Majo, Gianluca, Ferrari, Serena, Quattrucci, Laura, Minicucci, Rita, Padoan, Giovanna, Floridia, Gianna Puppo Fornaro, Domenica, Taruscio, Marco, Salvatore, Gruppo di lavoro RIFC, Albera, C, Amato, A, Angiolillo, A, Assael, Bm, Baldo, E, Battistini, F, Bena, C, Bernardi, Mg, Bertasi, S, Bignamini, E, Bisogno, A, Braggion, C, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, Ma, Cirilli, N, Collura, M, Colombo, C, Cucchiara, S, Di Sabatino, M, Di Stefano, E, Ferrari, G, Ficili, F, Floridia, G, Francalanci, M, Gagliardini, R, Giordani, B, Iansa, P, Laezza, C, La Rosa, M, Leonardi, S, Lucanto, Mc, Lucidi, V, Macchiaroli, Am, Magazzù, G, Majo, F, Manca, A, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Negri, A, Padoan, R, Palladino, N, Pintani, E, Pisano, G, Pisi, G, Pizzamiglio, G, Poli, F, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Rotolo, N, Salvatore, D, Salvatore, M, Spaggiari, C, Taruscio, D, Tonelli, T, Tuccio, G, and Zavataro, L.

Subjects
Registry, Cystic Fibrosis, Italy, Cystic Fibrosis, Registry, Italy
Published
2018

2. Italian Cystic Fibrosis Register - Report 2010

Author

Amato, A, Ferrigno, L, Salvatore, M, Toccaceli, V, Gruppo di lavoro RIFC/ICFR Working Group, Albera, C, Assael, B, Baldo, E, Battistini, F, Bena, C, Bernardi, M, Bertasi, S, Bignamini, E, Bisogno, A0, Braggion, C1, Cannata, L, Carnicella, A, Carnovale, V, Ciciretti, M, Cirilli, N, Collura, M, Colombo, C, Contoli, B, Cotichini, R, Cristadoro, S, Cucchiara, S, Ferrari, G, Ficili, F, Fogazza, D, Forte, F, Francalanci, M, Gagliardini, R, Iansa, P, Laezza, C, La Rosa, M, Lucidi, V, Magazzù, G, Majo, F, Manca, A, Mascotto, D, Mencarini, V, Minicucci, L, Moretti, P, Padoan, R, Pintani, E, Pisi, G, Pizzamiglio, G, Poli, F, Quattrucci, S, Raia, V, Ratclif, L, Ros, M, Salvatore, D, Seia, M, Spaggiari, C, Stazi, M, Taruscio, D, Tonelli, T, Tuccio, G, and Zavataro, L

Subjects
Registry, Cystic Fibrosis, Italy, Cystic Fibrosis, Registry, Italy
Published
2016

3. A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres

Author

Giovanni Taccetti, Vito Terlizzi, Valeria Raia, Kevin W Southern, L. Claut, Laura Marsiglio, Benedetta Fabrizzi, L. Zavataro, Antonella Tosco, Natalia Cirilli, Laura Moroni, Giuseppe Cimino, Paolo Bonomi, Antonio Angeloni, Carla Colombo, Silviana Timpano, Pietro Piccinini, Rita Padoan, Filippo Festini, Alice Castaldo, Marco Lucarelli, Terlizzi, V, Claut, L, Tosco, A, Colombo, C, Raia, V, Fabrizzi, B, Lucarelli, M, Angeloni, A, Cimino, G, Castaldo, A, Marsiglio, L, Timpano, S, Cirilli, N, Moroni, L, Festini, F, Piccinini, P, Zavataro, L, Bonomi, P, Taccetti, G, Southern, Kw, and Padoan, R.

Subjects
0301 basic medicine, Pulmonary and Respiratory Medicine, Male, Pediatrics, medicine.medical_specialty, Cystic Fibrosis, Population, Sweat chloride, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Surveys and Questionnaires, Gene profile, medicine, Prevalence, Humans, cystic fibrosis, neonatal screening, CRMS/CFSPID, education, Metabolic Syndrome, education.field_of_study, medicine.diagnostic_test, Sweat testing, business.industry, Clinical course, Infant, Newborn, Infant, medicine.disease, 030104 developmental biology, 030228 respiratory system, Italy, Child, Preschool, Pediatrics, Perinatology and Child Health, embryonic structures, Female, Metabolic syndrome, Chest radiograph, business, cystic fibrosis, CFSPID
Abstract

Objective We evaluated the prevalence, Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene profile, clinical data, management and outcome for infants with a CFTR-related metabolic syndrome/CF Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID) designation from six Italian centres. Methods All newborn bloodspot screening (NBS) positive infants born from January 2011 to August 2018 with a CF diagnosis or a CRMS/CFSPID designation were enrolled. Data on sweat testing, genetics, clinical course and management were collected. Results We enrolled 257 CF patientsand 336 infants with a CRMS/CFSPID designation (CF: CRMS/CFSPID ratio of 1:1.30).Blood immuno-reactive trypsinogen (IRT) was significantly lower in CRMS/CFSPID infants and the F508del variant accounted for only 20% of alleles. Children with CRMS/CFSPID showed a milder clinical course, pancreatic sufficiency compared to CF infants. Varied practice across centres was identified regarding sweat testing, chest radiograph (8-100%) and salt supplementation (11-90%). Eighteen (5.3%) CRMS/CFSPID infants converted or were reclassified to diagnosis of CF. Four infants (1.3%) developed a clinical feature consistent with a CFTR-related disorder (1.2%). Twenty-seven were re-classified as healthy carriers (8.0%) and 16 as healthy infants (4.8%). Conclusions We have identified considerable variability in the evaluation and management of infants with an inconclusive diagnosis following NBS across six Italian centres. CRMS/CFSPID is more regularly seen in this population compared to countries with higher prevalence of F508del.Conversion to a CF diagnosis was recorded in 18 (5.3%) of CRMS/CFSPID infants and in 16 was as a result of increasing sweat chloride concentration.

Published
2021

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