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3 results on '"Renzo Ciatti"'

1. Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

Author

Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, and Anna Paola Uccheddu

Subjects
aminoacidemias, fatty acid oxidation disorders, inborn errors of metabolism, newborn screening, organic acidemias, urea cycle defects, Pediatrics, RJ1-570
Abstract

Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy between 2016 and 2017 (Law 167/2016; DM 13 October 2016; DPCM 12-1-2017). A total of 1,586,578 infants born in Italy were screened between January 2017 and December 2020. For this survey, we collected data from 15 Italian screening laboratories, focusing on the metabolic disorders identified by tandem mass spectrometry (MS/MS) based analysis between January 2019 and December 2020. Aminoacidemias were the most common inborn errors in Italy, and an equal percentage was observed in detecting organic acidemias and mitochondrial fatty acids beta-oxidation defects. Second-tier tests are widely used in most laboratories to reduce false positives. For example, second-tier tests for methylmalonic acid and homocysteine considerably improved the screening of CblC without increasing unnecessary recalls. Finally, the newborn screening allowed us to identify conditions that are mainly secondary to a maternal deficiency. We describe the goals reached since the introduction of the screening in Italy by exchanging knowledge and experiences among the laboratories.

Published
2022
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2. Seconda sorveglianza sullo stato nutrizionale iodico in Italia (2015-2019): i dati nazionali dell'OSNAMI

Author

Simona, De Angelis, Daniela, Rotondi, Enzo, Gilardi, Paolo, Stacchini, Augusto, Pastorelli, Angela, Sorbo, Marilena, D'Amato, Anna Chiara, Turco, Emanuela, Medda, Roberto, Da Cas, Daniela, Agrimi, Sebastiano, Andò, Daniela, Bonofiglio, Francesco, Boi, Giulio, Doveri, Maurizio, Gasperi, Pietro, Lanzetta, Domenico, Meringolo, Caterina, Mian, Giorgio, Napolitano, Fabio, Orlandi, Efisio, Puxeddu, Giorgio, Radetti, Concetto, Regalbuto, Mariacarla, Moleti, Augusto, Taccaliti, Maria Laura, Tanda, Massimo, Tonacchera, Ulisse, Salvatore, Carlo, Corbetta, Renzo, Ciatti, Vera, Stoppioni, Nicola, Perrotti, Onorina, Marasco, Giovanna, Scozzafava, Marta, Camilot, Francesca, Teofili, Francesca, Righetti, Antonio, Dimida, and Antonella, Olivieri.

Subjects
Iodine, nutrition, prevention, thyroid
Published
2021

3. Geographical Epidemiology of Neonatal Transitory Hypothyroidism. Trend Evidence in Central Italian Region

Author

Marco B. L. Rocchi, Giulia Burroni, Vera Stoppioni, Renzo Ciatti, Maria Cristina Albertini, Davide Sisti, and Massimo Burroni

Subjects
endocrine system, Pediatrics, medicine.medical_specialty, endocrine system diseases, business.industry, Endocrinology, Diabetes and Metabolism, Infant, Newborn, Thyrotropin, Thyroid Function Tests, medicine.disease, Iodine deficiency, Congenital hypothyroidism, Neonatal Screening, Endocrinology, Hypothyroidism, Italy, Iodine uptake, Pediatrics, Perinatology and Child Health, Epidemiology, medicine, Humans, business, hormones, hormone substitutes, and hormone antagonists, Iodine
Abstract

Aim: To study the geographical distribution of high thyroid-stimulating hormone (TSH) level in the Marche region (central Italy). Methods: Data were drawn from the Register of Neonatal Screening for Congenital Hypothyroidism (CH) of the Marche region (Italy), located at the Child Neuropsychiatry Department of Civil Hospital in Fano (Marche, Italy). Data were analyzed by Ohno's method. Results: The findings of this study show a nonuniform distribution of high TSH levels in the Marche region, with an evident gradient from North to South. Conclusions: It is not possible to provide a definitive interpretation of these findings, although the specialized literature suggests that a high level of TSH in neonates should be interpreted as a marker of insufficient iodine uptake. Other factors affecting TSH level are also taken into consideration.

Published
2008
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