Search

Your search keyword '"Iughetti L."' showing total 346 results
Start Over Author "Iughetti L." Search Limiters Full Text
346 results on '"Iughetti L."'

1. Understanding Factors in Group B Streptococcus Late-Onset Disease

Author

Berardi A, Trevisani V, Di Caprio A, Bua J, China M, Perrone B, Pagano R, Lucaccioni L, Fanaro S, Iughetti L, Lugli L, and Creti R

Subjects
neonatal sepsis, prevention, infant, meningitis, cc17, Infectious and parasitic diseases, RC109-216
Abstract

Alberto Berardi,1 Viola Trevisani,2 Antonella Di Caprio,2 Jenny Bua,3 Mariachiara China,4 Barbara Perrone,5 Rossella Pagano,6 Laura Lucaccioni,7 Silvia Fanaro,8 Lorenzo Iughetti,2,7 Licia Lugli,1 Roberta Creti9 1Terapia Intensiva Neonatale, Azienda Ospedaliero-Universitaria Policlinico, Modena, Italy; 2Scuola di Specializzazione in Pediatria, Università di Modena & Reggio Emilia, Modena, Italy; 3Terapia Intensiva Neonatale, IRCCS Azienda Ospedaliero Universitaria “Burlo Garofalo”, Trieste, Italy; 4Terapia Intensiva Neonatale, Ospedale Infermi, Rimini, Italy; 5Terapia Intensiva Neonatale, Azienda Ospedaliero Universitaria Ospedali Riuniti, Ancona, Italy; 6Unità Operativa di Pediatria, Civile Sassuolo, Sassuolo, Italy; 7Unità Operativa di Pediatria, Azienda Ospedaliero-Universitaria Policlinico, Modena, Italy; 8Terapia Intensiva Neonatale, Azienda Ospedaliero-Universitaria S. Anna, Ferrara, Italy; 9Reparto di Antibiotico Resistenza e Patogeni Speciali (AR-PS), Dipartimento di Malattie Infettive, Istituto Superiore di Sanità, Rome, ItalyCorrespondence: Alberto Berardi Tel +39 059 4222522Fax +39 059 42223770Email alberto.berardi@unimore.itAbstract: Group B streptococcus (GBS) infection remains a leading cause of sepsis, pneumonia, and meningitis in infants. Rates of GBS early onset disease have declined following the widcespread use of intrapartum antibiotic prophylaxis; hence, late-onset infections (LOGBS) are currently a common presentation of neonatal GBS dicsease. The pathogenesis, mode of transmission, and risk factors associated with LOGBS are unclear, which interfere with effective prevention efforts. GBS may be transmitted from the mother to the infant at the time of delivery or during the postpartum period via contaminated breast milk, or as nosocomial or community-acquired infection. Maternal GBS colonization, prematurity, young maternal age, HIV exposure, and ethnicity (Black) are identified as risk factors for LOGBS disease; however, further studies are necessary to confirm additional risk factors, if any, for the implementation of effective prevention strategies. This narrative review discusses current and previous studies that have reported LOGBS. Few well-designed studies have described this condition; therefore, reliable assessment of maternal GBS colonization, breastfeeding, and twin delivery as risk factors for LOGBS remains limited.Keywords: neonatal sepsis, prevention, infant, meningitis, CC17

Published
2021

2. Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry

Author

Calcaterra, V, Tornese, G, Zuccotti, G, Staiano, A, Cherubini, V, Gaudino, R, Fazzi, E, Barbi, E, Chiarelli, F, Corsello, G, Esposito, S, Ferrara, P, Iughetti, L, Laforgia, N, Maghnie, M, Marseglia, G, Perilongo, G, Pettoello-Mantovani, M, Ruggieri, M, Russo, G, Salerno, M, Striano, P, Valerio, G, Wasniewska, M, Agosti, M, Agostoni, C, Aiuti, A, Azzari, C, Badolato, R, Balduzzi, A, Baraldi, E, Canani, R, Biffi, A, Biondi, A, Bisogno, G, Pierri, N, Carnielli, V, Cianfarani, S, Cogo, P, Corvaglia, L, Dani, C, Di Salvo, G, Fagioli, F, Fanos, V, Ferrero, G, Francavilla, R, Galli, L, Gazzolo, D, Giaquinto, C, Giordano, P, Gitto, E, Grosso, S, Guarino, A, Indrio, F, Lanari, M, Lionetti, P, Locatelli, F, Lombardo, F, Maffeis, C, Marino, B, Midulla, F, Del Giudice, E, Del Giudice, M, Montini, G, Parenti, G, Parisi, P, Peroni, D, Perrotta, S, Piacentini, G, Pietrobelli, A, Raimondi, F, Ramenghi, U, Ravelli, A, Romano, C, Rossi, F, Rossi, P, Damiano, V, Spalice, A, Suppiej, A, Troncone, R, Verrotti, A, Null, N, Calcaterra, Valeria, Tornese, Gianluca, Zuccotti, Gianvincenzo, Staiano, Annamaria, Cherubini, Valentino, Gaudino, Rossella, Fazzi, Elisa Maria, Barbi, Egidio, Chiarelli, Francesco, Corsello, Giovanni, Esposito, Susanna Maria Roberta, Ferrara, Pietro, Iughetti, Lorenzo, Laforgia, Nicola, Maghnie, Mohamad, Marseglia, Gianluigi, Perilongo, Giorgio, Pettoello-Mantovani, Massimo, Ruggieri, Martino, Russo, Giovanna, Salerno, Mariacarolina, Striano, Pasquale, Valerio, Giuliana, Wasniewska, Malgorzata, Agosti, Massimo, Agostoni, Carlo Virginio, Aiuti, Alessandro, Azzari, Chiara, Badolato, Raffaele, Balduzzi, Adriana, Baraldi, Eugenio, Canani, Roberto Berni, Biffi, Alessandra, Biondi, Andrea, Bisogno, Gianni, Pierri, Nicola Brunetti, Carnielli, Virginio, Cianfarani, Stefano, Cogo, Paola, Corvaglia, Luigi, Dani, Carlo, Di Salvo, Giovanni, Fagioli, Franca, Fanos, Vassilios, Ferrero, Giovanni Battista, Francavilla, Ruggiero, Galli, Luisa, Gazzolo, Diego, Giaquinto, Carlo, Giordano, Paola, Gitto, Eloisa, Grosso, Salvatore, Guarino, Alfredo, Indrio, Flavia, Lanari, Marcello, Lionetti, Paolo, Locatelli, Franco, Lombardo, Fortunato, Maffeis, Claudio, Marino, Bruno, Midulla, Fabio, Del Giudice, Emanuele Miraglia, Del Giudice, Michele Miraglia, Montini, Giovanni, Parenti, Giancarlo, Parisi, Pasquale, Peroni, Diego, Perrotta, Silverio, Piacentini, Giorgio, Pietrobelli, Angelo, Raimondi, Francesco, Ramenghi, Ugo, Ravelli, Angelo, Romano, Claudio, Rossi, Francesca, Rossi, Paolo, Damiano, Vincenzo Salpietro, Spalice, Alberto, Suppiej, Agnese, Troncone, Riccardo, Verrotti, Alberto, null, null, Calcaterra, V, Tornese, G, Zuccotti, G, Staiano, A, Cherubini, V, Gaudino, R, Fazzi, E, Barbi, E, Chiarelli, F, Corsello, G, Esposito, S, Ferrara, P, Iughetti, L, Laforgia, N, Maghnie, M, Marseglia, G, Perilongo, G, Pettoello-Mantovani, M, Ruggieri, M, Russo, G, Salerno, M, Striano, P, Valerio, G, Wasniewska, M, Agosti, M, Agostoni, C, Aiuti, A, Azzari, C, Badolato, R, Balduzzi, A, Baraldi, E, Canani, R, Biffi, A, Biondi, A, Bisogno, G, Pierri, N, Carnielli, V, Cianfarani, S, Cogo, P, Corvaglia, L, Dani, C, Di Salvo, G, Fagioli, F, Fanos, V, Ferrero, G, Francavilla, R, Galli, L, Gazzolo, D, Giaquinto, C, Giordano, P, Gitto, E, Grosso, S, Guarino, A, Indrio, F, Lanari, M, Lionetti, P, Locatelli, F, Lombardo, F, Maffeis, C, Marino, B, Midulla, F, Del Giudice, E, Del Giudice, M, Montini, G, Parenti, G, Parisi, P, Peroni, D, Perrotta, S, Piacentini, G, Pietrobelli, A, Raimondi, F, Ramenghi, U, Ravelli, A, Romano, C, Rossi, F, Rossi, P, Damiano, V, Spalice, A, Suppiej, A, Troncone, R, Verrotti, A, Null, N, Calcaterra, Valeria, Tornese, Gianluca, Zuccotti, Gianvincenzo, Staiano, Annamaria, Cherubini, Valentino, Gaudino, Rossella, Fazzi, Elisa Maria, Barbi, Egidio, Chiarelli, Francesco, Corsello, Giovanni, Esposito, Susanna Maria Roberta, Ferrara, Pietro, Iughetti, Lorenzo, Laforgia, Nicola, Maghnie, Mohamad, Marseglia, Gianluigi, Perilongo, Giorgio, Pettoello-Mantovani, Massimo, Ruggieri, Martino, Russo, Giovanna, Salerno, Mariacarolina, Striano, Pasquale, Valerio, Giuliana, Wasniewska, Malgorzata, Agosti, Massimo, Agostoni, Carlo Virginio, Aiuti, Alessandro, Azzari, Chiara, Badolato, Raffaele, Balduzzi, Adriana, Baraldi, Eugenio, Canani, Roberto Berni, Biffi, Alessandra, Biondi, Andrea, Bisogno, Gianni, Pierri, Nicola Brunetti, Carnielli, Virginio, Cianfarani, Stefano, Cogo, Paola, Corvaglia, Luigi, Dani, Carlo, Di Salvo, Giovanni, Fagioli, Franca, Fanos, Vassilios, Ferrero, Giovanni Battista, Francavilla, Ruggiero, Galli, Luisa, Gazzolo, Diego, Giaquinto, Carlo, Giordano, Paola, Gitto, Eloisa, Grosso, Salvatore, Guarino, Alfredo, Indrio, Flavia, Lanari, Marcello, Lionetti, Paolo, Locatelli, Franco, Lombardo, Fortunato, Maffeis, Claudio, Marino, Bruno, Midulla, Fabio, Del Giudice, Emanuele Miraglia, Del Giudice, Michele Miraglia, Montini, Giovanni, Parenti, Giancarlo, Parisi, Pasquale, Peroni, Diego, Perrotta, Silverio, Piacentini, Giorgio, Pietrobelli, Angelo, Raimondi, Francesco, Ramenghi, Ugo, Ravelli, Angelo, Romano, Claudio, Rossi, Francesca, Rossi, Paolo, Damiano, Vincenzo Salpietro, Spalice, Alberto, Suppiej, Agnese, Troncone, Riccardo, Verrotti, Alberto, and null, null

Abstract

Background In response to the imperative need for standardized support for adolescent Gender Dysphoria (GD), the Italian Academy of Pediatrics, in collaboration with the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, Italian Society of Adolescent Medicine and Italian Society of Child and Adolescent Neuropsychiatry is drafting a position paper. The purpose of this paper is to convey the author's opinion on the topic, offering foundational information on potential aspects of gender-affirming care and emphasizing the care and protection of children and adolescents with GD.Main body Recognizing that adolescents may choose interventions based on their unique needs and goals and understanding that every individual within this group has a distinct trajectory, it is crucial to ensure that each one is welcomed and supported. The approach to managing individuals with GD is a multi-stage process involving a multidisciplinary team throughout all phases. Decisions regarding treatment should be reached collaboratively by healthcare professionals and the family, while considering the unique needs and circumstances of the individual and be guided by scientific evidence rather than biases or ideologies. Politicians and high court judges should address discrimination based on gender identity in legislation and support service development that aligns with the needs of young people. It is essential to establish accredited multidisciplinary centers equipped with the requisite skills and experience to effectively manage adolescents with GD, thereby ensuring the delivery of high-quality care.Conclusion Maintaining an evidence-based approach is essential to safeguard the well-being of transgender and gender diverse adolescents.

Published
2024

4. The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group

Author

Gazzotti, M, Casula, M, Bertolini, S, Capra, M, Olmastroni, E, Catapano, A, Pederiva, C, Allevi, M, Arca, M, Auricchio, R, Averna, M, Baldera, D, Banderali, G, Bartuli, A, Biasucci, G, Borghi, C, Bruzzi, P, Buganza, R, Buonuomo, P, Calabro, P, Calandra, S, Carubbi, F, Cesaro, A, Cipollone, F, Citroni, N, Covetti, G, Cremonini, A, D'Addato, S, Ben, M, Di Taranto, M, Fortunato, G, Franceschi, R, Galimberti, F, Genovesi, S, Giammanco, A, Grigore, L, Guardamagna, O, Iannuzzi, A, Iannuzzo, G, Lascala, L, Locatelli, F, Iughetti, L, Madaghiele, S, Mandraffino, G, Mannarino, M, Marco, B, Maroni, L, Minicocci, I, Mombelli, G, Muntoni, S, Nascimbeni, F, Parati, G, Passaro, A, Pavanello, C, Pellegatta, F, Perla, F, Generale, M, Pirro, M, Pisciotta, L, Pujia, A, Purrello, F, Rinaldi, E, Sarzani, R, Scicali, R, Suppressa, P, Tarugi, P, Verachtert, S, Vigna, G, Werba, J, Zambon, A, Zambon, S, Zenti, M, Gazzotti M., Casula M., Bertolini S., Capra M. E., Olmastroni E., Catapano A. L., Pederiva C., Allevi M., Arca M., Auricchio R., Averna M., Baldera D., Banderali G., Bartuli A., Biasucci G., Borghi C., Bruzzi P., Buganza R., Buonuomo P. S., Calabro P., Calandra S., Carubbi F., Cesaro A., Cipollone F., Citroni N., Covetti G., Cremonini A., D'Addato S., Ben M. D., Di Taranto M. D., Fortunato G., Franceschi R., Galimberti F., Genovesi S., Giammanco A., Grigore L., Guardamagna O., Iannuzzi A., Iannuzzo G., Lascala L., Locatelli F., Iughetti L., Madaghiele S., Mandraffino G., Mannarino M. R., Marco B., Maroni L., Minicocci I., Mombelli G., Muntoni S., Nascimbeni F., Parati G., Passaro A., Pavanello C., Pellegatta F., Perla F. M., Generale M., Pirro M., Pisciotta L., Pujia A., Purrello F., Rinaldi E., Sarzani R., Scicali R., Suppressa P., Tarugi P., Verachtert S., Vigna G. B., Werba J. P., Zambon A., Zambon S., Zenti M. G., Gazzotti, M, Casula, M, Bertolini, S, Capra, M, Olmastroni, E, Catapano, A, Pederiva, C, Allevi, M, Arca, M, Auricchio, R, Averna, M, Baldera, D, Banderali, G, Bartuli, A, Biasucci, G, Borghi, C, Bruzzi, P, Buganza, R, Buonuomo, P, Calabro, P, Calandra, S, Carubbi, F, Cesaro, A, Cipollone, F, Citroni, N, Covetti, G, Cremonini, A, D'Addato, S, Ben, M, Di Taranto, M, Fortunato, G, Franceschi, R, Galimberti, F, Genovesi, S, Giammanco, A, Grigore, L, Guardamagna, O, Iannuzzi, A, Iannuzzo, G, Lascala, L, Locatelli, F, Iughetti, L, Madaghiele, S, Mandraffino, G, Mannarino, M, Marco, B, Maroni, L, Minicocci, I, Mombelli, G, Muntoni, S, Nascimbeni, F, Parati, G, Passaro, A, Pavanello, C, Pellegatta, F, Perla, F, Generale, M, Pirro, M, Pisciotta, L, Pujia, A, Purrello, F, Rinaldi, E, Sarzani, R, Scicali, R, Suppressa, P, Tarugi, P, Verachtert, S, Vigna, G, Werba, J, Zambon, A, Zambon, S, Zenti, M, Gazzotti M., Casula M., Bertolini S., Capra M. E., Olmastroni E., Catapano A. L., Pederiva C., Allevi M., Arca M., Auricchio R., Averna M., Baldera D., Banderali G., Bartuli A., Biasucci G., Borghi C., Bruzzi P., Buganza R., Buonuomo P. S., Calabro P., Calandra S., Carubbi F., Cesaro A., Cipollone F., Citroni N., Covetti G., Cremonini A., D'Addato S., Ben M. D., Di Taranto M. D., Fortunato G., Franceschi R., Galimberti F., Genovesi S., Giammanco A., Grigore L., Guardamagna O., Iannuzzi A., Iannuzzo G., Lascala L., Locatelli F., Iughetti L., Madaghiele S., Mandraffino G., Mannarino M. R., Marco B., Maroni L., Minicocci I., Mombelli G., Muntoni S., Nascimbeni F., Parati G., Passaro A., Pavanello C., Pellegatta F., Perla F. M., Generale M., Pirro M., Pisciotta L., Pujia A., Purrello F., Rinaldi E., Sarzani R., Scicali R., Suppressa P., Tarugi P., Verachtert S., Vigna G. B., Werba J. P., Zambon A., Zambon S., and Zenti M. G.

Abstract

Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discussing its recent progress and early outcomes. Demographic, biochemical, and genetic baseline characteristics were collected, with an in-depth analysis of the genetic defects. The analysis was carried out on 1,602 children and adolescents (mean age at baseline 9.9 ± 4.0 years), and almost the whole cohort underwent the genetic test (93.3%). Overall, the untreated mean value of LDL-C was 220.0 ± 97.2 mg/dl, with an increasing gradient from subjects with a negative (N = 317; mean untreated LDL-C = 159.9 ± 47.7 mg/dl), inconclusive (N = 125; mean untreated LDL-C = 166.4 ± 56.5 mg/dl), or positive (N = 1,053; mean untreated LDL-C = 246.5 ± 102.1 mg/dl) genetic diagnosis of FH. In the latter group, the LDL-C values presented a great variability based on the number and the biological impact of involved causative variants. The LIPIGEN pediatric group represents one of the largest cohorts of children with FH, allowing the deepening of the characterization of their baseline and genetic features, providing the basis for further longitudinal investigations for complete details.

Published
2022

5. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Author

Peluso, F., Caraffi, S.G., Contrò, G., Valeri, L., Napoli, M., Carboni, G., Seth, A., Zuntini, R., Coccia, E., Astrea, G., Bisgaard, A.M., Ivanovski, I., Maitz, S., Brischoux-Boucher, E., Carter, M.T., Dentici, M.L., Devriendt, K., Bellini, M., Digilio, M.C., Doja, A., Dyment, D.A., Farholt, S., Ferreira, C.R., Wolfe, L.A., Gahl, W.A., Gnazzo, M., Goel, H., Grønborg, S.W., Hammer, T., Iughetti, L., Kleefstra, T., Koolen, D.A., Lepri, F.R., Lemire, G., Louro, P., McCullagh, G., Madeo, S.F., Milone, A., Milone, R., Nielsen, Jens Cosedis, Novelli, A., Ockeloen, C.W., Pascarella, R., Pippucci, T., Ricca, I., Robertson, S.P., Sawyer, S., Falkenberg Smeland, M., Stegmann, S., Stumpel, C.T., Goel, A., Taylor, J.M., Barbuti, D., Soresina, A., Bedeschi, M.F., Battini, R., Cavalli, A., Fusco, C., Iascone, M., Maldergem, L. Van, Venkateswaran, S., Zuffardi, O., Vergano, S., Garavelli, L., Bayat, A., Peluso, F., Caraffi, S.G., Contrò, G., Valeri, L., Napoli, M., Carboni, G., Seth, A., Zuntini, R., Coccia, E., Astrea, G., Bisgaard, A.M., Ivanovski, I., Maitz, S., Brischoux-Boucher, E., Carter, M.T., Dentici, M.L., Devriendt, K., Bellini, M., Digilio, M.C., Doja, A., Dyment, D.A., Farholt, S., Ferreira, C.R., Wolfe, L.A., Gahl, W.A., Gnazzo, M., Goel, H., Grønborg, S.W., Hammer, T., Iughetti, L., Kleefstra, T., Koolen, D.A., Lepri, F.R., Lemire, G., Louro, P., McCullagh, G., Madeo, S.F., Milone, A., Milone, R., Nielsen, Jens Cosedis, Novelli, A., Ockeloen, C.W., Pascarella, R., Pippucci, T., Ricca, I., Robertson, S.P., Sawyer, S., Falkenberg Smeland, M., Stegmann, S., Stumpel, C.T., Goel, A., Taylor, J.M., Barbuti, D., Soresina, A., Bedeschi, M.F., Battini, R., Cavalli, A., Fusco, C., Iascone, M., Maldergem, L. Van, Venkateswaran, S., Zuffardi, O., Vergano, S., Garavelli, L., and Bayat, A.

Abstract

Contains fulltext : 299952.pdf (Publisher’s version ) (Open Access), BACKGROUND: KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures. The central nervous system (CNS) and skeletal features remain poorly defined. METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data in the literature. RESULTS: We identified 53 individuals, 44 with CNS and 40 with skeletal imaging. Common CNS findings included incomplete hippocampal inversion and posterior fossa malformations; these were significantly more common than previously reported (63.4% and 65.9% vs 1.1% and 24.7%, respectively). Additional features included patulous internal auditory canal, never described before in KBG syndrome, and the recurrence of ventriculomegaly, encephalic cysts, empty sella and low-lying conus medullaris. We found no correlation between these structural anomalies and epilepsy or intellectual disability. Prevalent skeletal findings comprised abnormalities of the spine including scoliosis, coccygeal anomalies and cervical ribs. Hand X-rays revealed frequent abnormalities of carpal bone morphology and maturation, including a greater delay in ossification compared with metacarpal/phalanx bones. CONCLUSION: This cohort enabled us to describe the prevalence of very heterogeneous neuroradiological and skeletal anomalies in KBG syndrome. Knowledge of the spectrum of such anomalies will aid diagnostic accuracy, improve patient care and provide a reference for future research on the effects of ANKRD11 variants in skeletal and brain development.

Published
2023

6. Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group

Author

Pederiva, C, Gazzotti, M, Arca, M, Averna, M, Banderali, G, Biasucci, G, Brambilla, M, Buonuomo, P, Calabrò, P, Cipollone, F, Citroni, N, D'Addato, S, Del Ben, M, Genovesi, S, Guardamagna, O, Iannuzzo, G, Iughetti, L, Mandraffino, G, Maroni, L, Mombelli, G, Muntoni, S, Nascimbeni, F, Passaro, A, Pellegatta, F, Pirro, M, Pisciotta, L, Pujia, R, Sarzani, R, Scicali, R, Suppressa, P, Zambon, S, Zenti, M, Calandra, S, Catapano, A, Tarugi, P, Galimberti, F, Casula, M, Capra, M, Pederiva, Cristina, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Banderali, Giuseppe, Biasucci, Giacomo, Brambilla, Marta, Buonuomo, Paola Sabrina, Calabrò, Paolo, Cipollone, Francesco, Citroni, Nadia, D'Addato, Sergio, Del Ben, Maria, Genovesi, Simonetta, Guardamagna, Ornella, Iannuzzo, Gabriella, Iughetti, Lorenzo, Mandraffino, Giuseppe, Maroni, Lorenzo, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Passaro, Angelina, Pellegatta, Fabio, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Sarzani, Riccardo, Scicali, Roberto, Suppressa, Patrizia, Zambon, Sabina, Zenti, Maria Grazia, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Galimberti, Federica, Casula, Manuela, Capra, Maria Elena, Pederiva, C, Gazzotti, M, Arca, M, Averna, M, Banderali, G, Biasucci, G, Brambilla, M, Buonuomo, P, Calabrò, P, Cipollone, F, Citroni, N, D'Addato, S, Del Ben, M, Genovesi, S, Guardamagna, O, Iannuzzo, G, Iughetti, L, Mandraffino, G, Maroni, L, Mombelli, G, Muntoni, S, Nascimbeni, F, Passaro, A, Pellegatta, F, Pirro, M, Pisciotta, L, Pujia, R, Sarzani, R, Scicali, R, Suppressa, P, Zambon, S, Zenti, M, Calandra, S, Catapano, A, Tarugi, P, Galimberti, F, Casula, M, Capra, M, Pederiva, Cristina, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Banderali, Giuseppe, Biasucci, Giacomo, Brambilla, Marta, Buonuomo, Paola Sabrina, Calabrò, Paolo, Cipollone, Francesco, Citroni, Nadia, D'Addato, Sergio, Del Ben, Maria, Genovesi, Simonetta, Guardamagna, Ornella, Iannuzzo, Gabriella, Iughetti, Lorenzo, Mandraffino, Giuseppe, Maroni, Lorenzo, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Passaro, Angelina, Pellegatta, Fabio, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Sarzani, Riccardo, Scicali, Roberto, Suppressa, Patrizia, Zambon, Sabina, Zenti, Maria Grazia, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Galimberti, Federica, Casula, Manuela, and Capra, Maria Elena

Abstract

Detection and treatment of patients with familial hypercholesterolemia (FH) starting from childhood is fundamental to reduce morbidity and mortality. The activity of National realities such as the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) Paediatric Group, founded in 2018, is a milestone in this context. The aim of this exploratory survey, conducted in October 2021 among Italian lipid clinics included in the LIPIGEN Paediatric Group, was to investigate the current clinical approach in the management and treatment of paediatric patients with suspected FH. A digital questionnaire composed of 20 questions investigating nutritional treatment and nutraceutical and pharmacological therapy for children and adolescents with FH was proposed to the principal investigators of 30 LIPIGEN centres. Twenty-four centres responded to the section referring to children aged < 10 years and 30 to that referring to adolescents. Overall, 66.7% of children and 73.3% of adolescents were given lipid-lowering nutritional treatment as the first intervention level for at least 3–4 months (29.2% and 23.3%) or 6–12 months (58.3% and 53.3%). Nutraceuticals were considered in 41.7% (regarding children) and 50.0% (regarding adolescents) of the centres as a supplementary approach to diet. Lipid-lowering drug therapy initiation was mainly recommended (91.7% and 80.0%). In 83.3% of children and 96.7% of adolescents, statins were the most frequently prescribed drug. We highlighted several differences in the treatment of paediatric patients with suspected FH among Italian centres; however, the overall approach is in line with the European Atherosclerosis Society (EAS) recommendations for FH children and adolescents. We consider this survey as a starting point to reinforce collaboration between LIPIGEN centres and to elaborate in the near future a consensus document on the management of paediatric patients with suspected FH so as to improve and uniform detection, management, and treat

Published
2023

9. Children with special health care needs attending emergency department in Italy: analysis of 3479 cases

Author

Cianci, P, D'Apolito, V, Moretti, A, Barbagallo, M, Paci, S, Carbone, M, Lubrano, R, Urbino, A, Dionisi Vici, C, Memo, L, Zampino, G, La Marca, G, Villani, A, Corsello, G, Selicorni, A, Campania, A, Geremia, C, Castagno, E, Masi, S, Poggi, G, Vestri, M, Fossali, E, Rocchi, A, Dadalt, L, Arrighini, A, Chiappa, S, Renna, S, Piccotti, E, Borgna, C, Govoni, M, Biondi, A, Fossati, C, Iughetti, L, Bertolani, P, Salvatoni, A, Agosti, M, Fuca, F, Ilardi, A, Giuffrida, S, Diguardo, V, Boni, S, D'Antiga, L, Ruggeri, M, Chiaretti, A, Amarri, S, Peduto, A, Bernardi, F, Corsini, I, Deangelis, G, Ruberto, C, Zuccotti, G, Stringhi, C, Lombardi, G, Salladini, C, Dimichele, S, Parola, L, Porta, A, Biasucci, G, Bellini, M, Ortisi, M, Apuril, E, Midulla, F, Tarani, L, Parlapiano, G, Lietti, D, Sforzini, C, Marseglia, G, Savasta, S, Falsaperla, R, Vitaliti, M, Chiarelli, F, Rossi, N, Banderali, G, Giacchero, R, Bernardo, L, Pinto, F, Fabiani, E, Ficcadenti, A, Pellegrini, G, Giacoma, S, Biban, P, Spada, S, Tipo, V, Ghitti, C, Bolognini, S, Mariani, G, Russo, A, Colella, M, Verrico, A, Bruni, P, Poddighe, D, Cagnoli, G, Morandi, F, Gadaleta, A, Barbi, E, Bruno, I, Graziano, R, Sgaramella, P, Catalani, M, Baldoni, I, Colarusso, G, Galvagno, G, Barone, A, Longo, A, Nardella, G, Portale, G, Garigali, G, Bona, G, Erbela, M, Agostiniani, R, Nanni, L, Schieven, E, Dona, M, Varisco, T, Russo, F, Distefano, V, Dipietro, F, Tarallo, L, Imperato, L, Parisi, G, Salzano, R, Raiola, G, Talarico, V, Bellu, R, Cannone, A, Ferrante, P, Cianci P., D'Apolito V., Moretti A., Barbagallo M., Paci S., Carbone M. T., Lubrano R., Urbino A., Dionisi Vici C., Memo L., Zampino G., La Marca G., Villani A., Corsello G., Selicorni A., Campania A., Geremia C., Castagno E., Masi S., Poggi G., Vestri M., Fossali E., Rocchi A., DaDalt L., Arrighini A., Chiappa S., Renna S., Piccotti E., Borgna C., Govoni M. R., Biondi A., Fossati C., Iughetti L., Bertolani P., Salvatoni A., Agosti M., Fuca F., Ilardi A., Giuffrida S., DiGuardo V., Boni S., D'Antiga L., Ruggeri M., Chiaretti A., Amarri S., Peduto A., Bernardi F., Corsini I., DeAngelis G. L., Ruberto C., Zuccotti G. V., Stringhi C., Lombardi G., Salladini C., DiMichele S., Parola L., Porta A., Biasucci G., Bellini M., Ortisi M. T., Apuril E., Midulla F., Tarani L., Parlapiano G., Lietti D., Sforzini C., Marseglia G. L., Savasta S., Falsaperla R., Vitaliti M. C., Chiarelli F., Rossi N., Banderali G., Giacchero R., Bernardo L., Pinto F., Fabiani E., Ficcadenti A., Pellegrini G., Giacoma S., Biban P., Spada S., Tipo V., Ghitti C., Bolognini S., Mariani G., Russo A., Colella M. G., Verrico A., Bruni P., Poddighe D., Cagnoli G., Morandi F., Gadaleta A., Barbi E., Bruno I. I., Graziano R., Sgaramella P., Catalani M. P., Baldoni I., Colarusso G., Galvagno G., Barone A. P., Longo A., Nardella G., Portale G., Garigali G., Bona G., Erbela M., Agostiniani R., Nanni L., Schieven E., Dona M., Varisco T., Russo F., DiStefano V. A., DiPietro F., Tarallo L., Imperato L., Parisi G., Salzano R., Raiola G., Talarico V., Bellu R., Cannone A., Ferrante P., Cianci, P, D'Apolito, V, Moretti, A, Barbagallo, M, Paci, S, Carbone, M, Lubrano, R, Urbino, A, Dionisi Vici, C, Memo, L, Zampino, G, La Marca, G, Villani, A, Corsello, G, Selicorni, A, Campania, A, Geremia, C, Castagno, E, Masi, S, Poggi, G, Vestri, M, Fossali, E, Rocchi, A, Dadalt, L, Arrighini, A, Chiappa, S, Renna, S, Piccotti, E, Borgna, C, Govoni, M, Biondi, A, Fossati, C, Iughetti, L, Bertolani, P, Salvatoni, A, Agosti, M, Fuca, F, Ilardi, A, Giuffrida, S, Diguardo, V, Boni, S, D'Antiga, L, Ruggeri, M, Chiaretti, A, Amarri, S, Peduto, A, Bernardi, F, Corsini, I, Deangelis, G, Ruberto, C, Zuccotti, G, Stringhi, C, Lombardi, G, Salladini, C, Dimichele, S, Parola, L, Porta, A, Biasucci, G, Bellini, M, Ortisi, M, Apuril, E, Midulla, F, Tarani, L, Parlapiano, G, Lietti, D, Sforzini, C, Marseglia, G, Savasta, S, Falsaperla, R, Vitaliti, M, Chiarelli, F, Rossi, N, Banderali, G, Giacchero, R, Bernardo, L, Pinto, F, Fabiani, E, Ficcadenti, A, Pellegrini, G, Giacoma, S, Biban, P, Spada, S, Tipo, V, Ghitti, C, Bolognini, S, Mariani, G, Russo, A, Colella, M, Verrico, A, Bruni, P, Poddighe, D, Cagnoli, G, Morandi, F, Gadaleta, A, Barbi, E, Bruno, I, Graziano, R, Sgaramella, P, Catalani, M, Baldoni, I, Colarusso, G, Galvagno, G, Barone, A, Longo, A, Nardella, G, Portale, G, Garigali, G, Bona, G, Erbela, M, Agostiniani, R, Nanni, L, Schieven, E, Dona, M, Varisco, T, Russo, F, Distefano, V, Dipietro, F, Tarallo, L, Imperato, L, Parisi, G, Salzano, R, Raiola, G, Talarico, V, Bellu, R, Cannone, A, Ferrante, P, Cianci P., D'Apolito V., Moretti A., Barbagallo M., Paci S., Carbone M. T., Lubrano R., Urbino A., Dionisi Vici C., Memo L., Zampino G., La Marca G., Villani A., Corsello G., Selicorni A., Campania A., Geremia C., Castagno E., Masi S., Poggi G., Vestri M., Fossali E., Rocchi A., DaDalt L., Arrighini A., Chiappa S., Renna S., Piccotti E., Borgna C., Govoni M. R., Biondi A., Fossati C., Iughetti L., Bertolani P., Salvatoni A., Agosti M., Fuca F., Ilardi A., Giuffrida S., DiGuardo V., Boni S., D'Antiga L., Ruggeri M., Chiaretti A., Amarri S., Peduto A., Bernardi F., Corsini I., DeAngelis G. L., Ruberto C., Zuccotti G. V., Stringhi C., Lombardi G., Salladini C., DiMichele S., Parola L., Porta A., Biasucci G., Bellini M., Ortisi M. T., Apuril E., Midulla F., Tarani L., Parlapiano G., Lietti D., Sforzini C., Marseglia G. L., Savasta S., Falsaperla R., Vitaliti M. C., Chiarelli F., Rossi N., Banderali G., Giacchero R., Bernardo L., Pinto F., Fabiani E., Ficcadenti A., Pellegrini G., Giacoma S., Biban P., Spada S., Tipo V., Ghitti C., Bolognini S., Mariani G., Russo A., Colella M. G., Verrico A., Bruni P., Poddighe D., Cagnoli G., Morandi F., Gadaleta A., Barbi E., Bruno I. I., Graziano R., Sgaramella P., Catalani M. P., Baldoni I., Colarusso G., Galvagno G., Barone A. P., Longo A., Nardella G., Portale G., Garigali G., Bona G., Erbela M., Agostiniani R., Nanni L., Schieven E., Dona M., Varisco T., Russo F., DiStefano V. A., DiPietro F., Tarallo L., Imperato L., Parisi G., Salzano R., Raiola G., Talarico V., Bellu R., Cannone A., and Ferrante P.

Abstract

Background: Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in comparison to general pediatric population. Objectives of the study were to determine the reasons for admission to the ED in Italian CSHCN, and to describe the association between patient’s demographic data, clinical history, and health services requirements. Methods: Ad hoc web site was created to collect retrospective data of 3479 visits of CSHCN to the ED in 58 Italian Hospitals. Results: Seventy-two percent of patients admitted to ED were affected by a previously defined medical condition. Most of the ED admissions were children with syndromic conditions (54%). 44.2% of the ED admissions were registered during the night-time and/or at the weekends. The hospitalization rate was of 45.6% among patients admitted to the ED. The most common reason for admission to the ED was the presence of respiratory symptoms (26.6%), followed by gastrointestinal problems (21.3%) and neurological disorders (18.2%). 51.4% of the access were classified as ‘urgent’, with a red/yellow triage code. Considering the type of ED, 61.9% of the visits were conducted at the Pediatric EDs (PedEDs), 33.5% at the Functional EDs (FunEDs) and 4.6% at the Dedicated EDs (DedEDs). Patients with more complex clinical presentation were more likely to be evaluated at the PedEDs. CSHCN underwent to a higher number of medical procedures at the PedEDs, more in comparison to other EDs. Children with medical devices were directed to a PedED quite exclusively when in need for medical attention. Subjects under multiple anti-epileptic drug therapy attended to PedEDs or FunEDs generally. Patients affected by metabolic diseases were more likely to look for medical attention at FunEDs. Syndromic patients mostly required medical attention at the DedEDs. Conclusions

Published
2020

10. Children with special health care needs attending emergency department in Italy: analysis of 3479 cases

Author

Cianci, P., D'Apolito, V., Moretti, A., Barbagallo, M., Paci, S., Carbone, M. T., Lubrano, R., Urbino, A., Dionisi Vici, C., Memo, L., Zampino, G., La Marca, G., Villani, A., Corsello, G., Selicorni, A., Campania, A., Geremia, C., Castagno, E., Masi, S., Poggi, G., Vestri, M., Fossali, E., Rocchi, A., Dadalt, L., Arrighini, A., Chiappa, S., Renna, S., Piccotti, E., Borgna, C., Govoni, M. R., Biondi, A., Fossati, C., Iughetti, L., Bertolani, P., Salvatoni, A., Agosti, M., Fuca, F., Ilardi, A., Giuffrida, S., Diguardo, V., Boni, S., D'Antiga, L., Ruggeri, M., Chiaretti, A., Amarri, S., Peduto, A., Bernardi, F., Corsini, I., Deangelis, G. L., Ruberto, C., Zuccotti, G. V., Stringhi, C., Lombardi, G., Salladini, C., Dimichele, S., Parola, L., Porta, A., Biasucci, G., Bellini, M., Ortisi, M. T., Apuril, E., Midulla, F., Tarani, L., Parlapiano, G., Lietti, D., Sforzini, C., Marseglia, G. L., Savasta, S., Falsaperla, R., Vitaliti, M. C., Chiarelli, F., Rossi, N., Banderali, G., Giacchero, R., Bernardo, L., Pinto, F., Fabiani, E., Ficcadenti, A., Pellegrini, G., Giacoma, S., Biban, P., Spada, S., Tipo, V., Ghitti, C., Bolognini, S., Mariani, G., Russo, A., Colella, M. G., Verrico, A., Bruni, P., Poddighe, D., Cagnoli, G., Morandi, F., Gadaleta, A., Barbi, E., Bruno, I. I., Graziano, R., Sgaramella, P., Catalani, M. P., Baldoni, I., Colarusso, G., Galvagno, G., Barone, A. P., Longo, A., Nardella, G., Portale, G., Garigali, G., Bona, G., Erbela, M., Agostiniani, R., Nanni, L., Schieven, E., Dona, M., Varisco, T., Russo, F., Distefano, V. A., Dipietro, F., Tarallo, L., Imperato, L., Parisi, G., Salzano, R., Raiola, G., Talarico, V., Bellu, R., Cannone, A., Ferrante, P., Cianci, P, D'Apolito, V, Moretti, A, Barbagallo, M, Paci, S, Carbone, M, Lubrano, R, Urbino, A, Dionisi Vici, C, Memo, L, Zampino, G, La Marca, G, Villani, A, Corsello, G, Selicorni, A, Campania, A, Geremia, C, Castagno, E, Masi, S, Poggi, G, Vestri, M, Fossali, E, Rocchi, A, Dadalt, L, Arrighini, A, Chiappa, S, Renna, S, Piccotti, E, Borgna, C, Govoni, M, Biondi, A, Fossati, C, Iughetti, L, Bertolani, P, Salvatoni, A, Agosti, M, Fuca, F, Ilardi, A, Giuffrida, S, Diguardo, V, Boni, S, D'Antiga, L, Ruggeri, M, Chiaretti, A, Amarri, S, Peduto, A, Bernardi, F, Corsini, I, Deangelis, G, Ruberto, C, Zuccotti, G, Stringhi, C, Lombardi, G, Salladini, C, Dimichele, S, Parola, L, Porta, A, Biasucci, G, Bellini, M, Ortisi, M, Apuril, E, Midulla, F, Tarani, L, Parlapiano, G, Lietti, D, Sforzini, C, Marseglia, G, Savasta, S, Falsaperla, R, Vitaliti, M, Chiarelli, F, Rossi, N, Banderali, G, Giacchero, R, Bernardo, L, Pinto, F, Fabiani, E, Ficcadenti, A, Pellegrini, G, Giacoma, S, Biban, P, Spada, S, Tipo, V, Ghitti, C, Bolognini, S, Mariani, G, Russo, A, Colella, M, Verrico, A, Bruni, P, Poddighe, D, Cagnoli, G, Morandi, F, Gadaleta, A, Barbi, E, Bruno, I, Graziano, R, Sgaramella, P, Catalani, M, Baldoni, I, Colarusso, G, Galvagno, G, Barone, A, Longo, A, Nardella, G, Portale, G, Garigali, G, Bona, G, Erbela, M, Agostiniani, R, Nanni, L, Schieven, E, Dona, M, Varisco, T, Russo, F, Distefano, V, Dipietro, F, Tarallo, L, Imperato, L, Parisi, G, Salzano, R, Raiola, G, Talarico, V, Bellu, R, Cannone, A, Ferrante, P, Paola Cianci, Valeria D'Apolito, Alex Moretti, Massimo Barbagallo, Sabrina Paci, Maria Teresa Carbone, Riccardo Lubrano, Antonio Urbino, Carlo Dionisi Vici, Luigi Memo, Giuseppe Zampino, Giancarlo La Marca, Alberto Villani, Giovanni Corsello, Angelo Selicorni, Cianci, P., D'Apolito, V., Moretti, A., Barbagallo, M., Paci, S., Carbone, M. T., Lubrano, R., Urbino, A., Dionisi Vici, C., Memo, L., Zampino, G., La Marca, G., Villani, A., Corsello, G., Selicorni, A., Campania, A., Geremia, C., Castagno, E., Masi, S., Poggi, G., Vestri, M., Fossali, E., Rocchi, A., Dadalt, L., Arrighini, A., Chiappa, S., Renna, S., Piccotti, E., Borgna, C., Govoni, M. R., Biondi, A., Fossati, C., Iughetti, L., Bertolani, P., Salvatoni, A., Agosti, M., Fuca, F., Ilardi, A., Giuffrida, S., Diguardo, V., Boni, S., D'Antiga, L., Ruggeri, M., Chiaretti, A., Amarri, S., Peduto, A., Bernardi, F., Corsini, I., Deangelis, G. L., Ruberto, C., Zuccotti, G. V., Stringhi, C., Lombardi, G., Salladini, C., Dimichele, S., Parola, L., Porta, A., Biasucci, G., Bellini, M., Ortisi, M. T., Apuril, E., Midulla, F., Tarani, L., Parlapiano, G., Lietti, D., Sforzini, C., Marseglia, G. L., Savasta, S., Falsaperla, R., Vitaliti, M. C., Chiarelli, F., Rossi, N., Banderali, G., Giacchero, R., Bernardo, L., Pinto, F., Fabiani, E., Ficcadenti, A., Pellegrini, G., Giacoma, S., Biban, P., Spada, S., Tipo, V., Ghitti, C., Bolognini, S., Mariani, G., Russo, A., Colella, M. G., Verrico, A., Bruni, P., Poddighe, D., Cagnoli, G., Morandi, F., Gadaleta, A., Barbi, E., Bruno, I. I., Graziano, R., Sgaramella, P., Catalani, M. P., Baldoni, I., Colarusso, G., Galvagno, G., Barone, A. P., Longo, A., Nardella, G., Portale, G., Garigali, G., Bona, G., Erbela, M., Agostiniani, R., Nanni, L., Schieven, E., Dona, M., Varisco, T., Russo, F., Distefano, V. A., Dipietro, F., Tarallo, L., Imperato, L., Parisi, G., Salzano, R., Raiola, G., Talarico, V., Bellu, R., Cannone, A., and Ferrante, P.

Subjects
Male, Metabolic disease, Hospitalization rate, Congenital skeletal condition, Children with special health care needs, Emergency department, Isolated CNS malformation, Metabolic diseases, Multiple AED therapy, Neuromuscular diseases, Syndromic disorders, True isolated microcephaly, 0302 clinical medicine, Clinical history, Medicine, Child, education.field_of_study, Neuromuscular disease, Settore MED/38, Disabled Children, Hospitalization, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Italy, Child, Preschool, Female, Children with special health care need, Emergency Service, Hospital, medicine.medical_specialty, Adolescent, Population, Triage Code, 03 medical and health sciences, Pharmacotherapy, 030225 pediatrics, Humans, Medical prescription, education, Retrospective Studies, Health Services Needs and Demand, Syndromic disorder, business.industry, Research, Infant, Newborn, Infant, 030208 emergency & critical care medicine, Children with special health care needs, Congenital skeletal conditions,Emergency department, Hospitalization rate, Isolated CNS malformation, Metabolic diseases, Multiple AED therapy, Neuromuscular diseases, Syndromic disorders, True isolated microcephaly, Family medicine, Chronic Disease, business, Facilities and Services Utilization
Abstract

Background Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in comparison to general pediatric population. Objectives of the study were to determine the reasons for admission to the ED in Italian CSHCN, and to describe the association between patient’s demographic data, clinical history, and health services requirements. Methods Ad hoc web site was created to collect retrospective data of 3479 visits of CSHCN to the ED in 58 Italian Hospitals. Results Seventy-two percent of patients admitted to ED were affected by a previously defined medical condition. Most of the ED admissions were children with syndromic conditions (54%). 44.2% of the ED admissions were registered during the night-time and/or at the weekends. The hospitalization rate was of 45.6% among patients admitted to the ED. The most common reason for admission to the ED was the presence of respiratory symptoms (26.6%), followed by gastrointestinal problems (21.3%) and neurological disorders (18.2%). 51.4% of the access were classified as ‘urgent’, with a red/yellow triage code. Considering the type of ED, 61.9% of the visits were conducted at the Pediatric EDs (PedEDs), 33.5% at the Functional EDs (FunEDs) and 4.6% at the Dedicated EDs (DedEDs). Patients with more complex clinical presentation were more likely to be evaluated at the PedEDs. CSHCN underwent to a higher number of medical procedures at the PedEDs, more in comparison to other EDs. Children with medical devices were directed to a PedED quite exclusively when in need for medical attention. Subjects under multiple anti-epileptic drug therapy attended to PedEDs or FunEDs generally. Patients affected by metabolic diseases were more likely to look for medical attention at FunEDs. Syndromic patients mostly required medical attention at the DedEDs. Conclusions Access of CSHCN to an ED is not infrequent. For this reason, it is fundamental for pediatricians working in any kind of ED to increase their general knowledge about CHSCN and to gain expertise in the management of such patients and their related medical complexity.

Published
2020

14. Mowat-Wilson syndrome:growth charts

Author

Ivanovski I., Djuric O., Broccoli S., Caraffi S. G., Accorsi P., Adam M. P., Avela K., Badura-Stronka M., Bayat A., Clayton-Smith J., Cocco I., Cordelli D. M., Cuturilo G., Di Pisa V., Dupont Garcia J., Gastaldi R., Giordano L., Guala A., Hoei-Hansen C., Inaba M., Iodice A., Nielsen J. E. K., Kuburovic V., Lazalde-Medina B., Malbora B., Mizuno S., Moldovan O., Moller R. S., Muschke P., Otelli V., Pantaleoni C., Piscopo C., Poch-Olive M. L., Prpic I., Marin Reina P., Raviglione F., Ricci E., Scarano E., Simonte G., Smigiel R., Tanteles G., Tarani L., Trimouille A., Valera E. T., Schrier Vergano S., Writzl K., Callewaert B., Savasta S., Street M. E., Iughetti L., Bernasconi S., Giorgi Rossi P., Garavelli L., HUSLAB, Clinicum, Department of Medical and Clinical Genetics, Helsinki University Hospital Area, Ivanovski I., Djuric O., Broccoli S., Caraffi S.G., Accorsi P., Adam M.P., Avela K., Badura-Stronka M., Bayat A., Clayton-Smith J., Cocco I., Cordelli D.M., Cuturilo G., Di Pisa V., Dupont Garcia J., Gastaldi R., Giordano L., Guala A., Hoei-Hansen C., Inaba M., Iodice A., Nielsen J.E.K., Kuburovic V., Lazalde-Medina B., Malbora B., Mizuno S., Moldovan O., Moller R.S., Muschke P., Otelli V., Pantaleoni C., Piscopo C., Poch-Olive M.L., Prpic I., Marin Reina P., Raviglione F., Ricci E., Scarano E., Simonte G., Smigiel R., Tanteles G., Tarani L., Trimouille A., Valera E.T., Schrier Vergano S., Writzl K., Callewaert B., Savasta S., Street M.E., Iughetti L., Bernasconi S., Giorgi Rossi P., and Garavelli L.

Subjects
Male, 0301 basic medicine, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, Pediatrics, Microcephaly, FEATURES, lcsh:Medicine, CHILDREN, 030105 genetics & heredity, Head circumference, DISEASE, 0302 clinical medicine, Intellectual disability, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Mowat-Wilson syndrome, Child, Genetics (clinical), Body mass index, ZEB2, 2. Zero hunger, education.field_of_study, 0303 health sciences, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Mowat-Wilson syndrome, ZEB2, Growth charts, Weight, Length, Height, Head circumference, Body mass index, BM, 1184 Genetics, developmental biology, physiology, General Medicine, STATISTICS, 3. Good health, MORFOMETRIA, Italy, 030220 oncology & carcinogenesis, Female, medicine.medical_specialty, Mowat–Wilson syndrome, Length, Population, BMI, Growth charts, Height, Weight, Growth chart, 03 medical and health sciences, AGE, Intellectual Disability, medicine, Humans, In patient, Hirschsprung Disease, education, Zinc Finger E-box Binding Homeobox 2, 030304 developmental biology, Homeodomain Proteins, Physical development, MUTATIONS, business.industry, Research, lcsh:R, Infant, Newborn, Facies, Infant, medicine.disease, Repressor Proteins, DELINEATION, INDIVIDUALS, 030104 developmental biology, 3111 Biomedicine, business
Abstract

Background: Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2,865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children.Results: In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build. Conclusions: These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS.

Published
2020

15. 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

16. Clinical Outcome of Discordant Empirical Therapy and Risk Factors Associated to Treatment Failure in Children Hospitalized for Urinary Tract Infections

Author

Autore G., Neglia C., Di Costanzo M., Ceccoli M., Vergine G., La Scola C., Malaventura C., Falcioni A., Iacono A., Crisafi A., Iughetti L., Conte M. L., Pierantoni L., Gatti C., Biasucci G., Esposito S., Argentiero A., Bernardi L., Dal Canto G., Cortina I., Capra M. E., Benincasa C., Addeo A., Saia R. E., Lelli F., Pession A., Pasini A., Baccelli F., Bruni L., Gallotta G., Corvaglia A., Lanari M., Suppiej A., Cafolla C., Boselli F., Valletta E., Venturoli V., Casadio L., Polenzani I., Marchetti F., De Fanti A., Autore G., Neglia C., Di Costanzo M., Ceccoli M., Vergine G., La Scola C., Malaventura C., Falcioni A., Iacono A., Crisafi A., Iughetti L., Conte M.L., Pierantoni L., Gatti C., Biasucci G., Esposito S., Argentiero A., Bernardi L., Dal Canto G., Cortina I., Capra M.E., Benincasa C., Addeo A., Saia R.E., Lelli F., Pession A., Pasini A., Baccelli F., Bruni L., Gallotta G., Corvaglia A., Lanari M., Suppiej A., Cafolla C., Boselli F., Valletta E., Venturoli V., Casadio L., Polenzani I., Marchetti F., and De Fanti A.

Subjects
Antibiotic resistance, Antibiotic failure, Discordant antibiotic, Pediatrics, Perinatology and Child Health, Socio-culturale, Empirical therapy, Urinary tract infections, antibiotic failure, antibiotic resistance, empirical therapy, discordant antibiotic, urinary tract infections
Abstract

With the spread of antibiotic resistance in pediatric urinary tract infections (UTIs), more patients are likely to be started empirically on antibiotics to which pathogens are later found to be resistant (discordant therapy). However, in-vivo effectiveness may be different from in-vitro susceptibility. Aims of this study were to describe clinical outcomes of discordant empirical treatments in pediatric UTIs and to investigate risk factors associated to treatment failure. This observational, retrospective study was conducted on children hospitalized for febrile UTIs with positive urine culture and started on discordant empirical therapy. Failure rates of discordant treatments and associated risk factors were investigated. A total of 142/1600 (8.9%) patients were treated with inadequate empirical antibiotics. Clinical failure was observed in 67/142 (47.2%) patients, with no fatal events. Higher failure rates were observed for combinations of penicillin and beta-lactamase inhibitors (57.1%). Significant risk factors for failure of discordant treatment were history of recurrent UTIs (95% CI: 1.13–9.98, OR: 3.23, p < 0.05), recent use of antibiotics (95% CI: 1.46–21.82, OR: 5.02, p < 0.01), infections caused by Pseudomonas aeruginosa (95% CI: 1.85–62.10, OR: 7.30, p < 0.05), and empirical treatment with combinations of penicillin and beta-lactamase inhibitors (95% CI: 0.94–4.03, OR: 1.94, p = 0.05). This study showed that discordant empirical treatments may still be effective in more than half of pediatric UTIs. Clinical effectiveness varies between different discordant antibiotics in pediatric UTIs, and patients presenting risk factors for treatment failure may need a differentiated empirical approach.

Published
2022

17. Late diagnosis of severe long-standing autoimmune hypothyroidism after the first lockdown for the Covid-19 pandemic: clinical features and follow-up

Author

Mansueto, M. L., Zagni, G., Sartori, C., Bermudez, B. A. O., Righi, B., Catellani, C., Fusco, C., Frasoldati, A., De Fanti, A., Iughetti, L., and Street, M. E.

Subjects
Autoimmune thyroiditis, Delayed Diagnosis, Polycystic ovarian morphology, Adolescent, SARS-CoV-2, COVID-19, Autoimmunity, KocherDebre-Semelaigne syndrome, Hypothyroidism, Communicable Disease Control, Congenital Hypothyroidism, Humans, Muscular pseudohypertrophy, Female, Child, Follow-Up Studies, Pandemics
Abstract

Hashimoto's thyroiditis (HT) is a common endocrinopathy in children, particularly in females. Clinical overt presentation of hypothyroidism in HT includes mild to very severe forms, characterised by impairment of many body functions and organs, such as heart, brain, muscles, ovaries and liver.we report the case of a 14-year-old girl, with severe hypothyroidism due to a late diagnosis of HT during the Covid-19 pandemic. Routine biochemical and hormonal exams were carried out at presentation. Moderate pericardial effusion was detected by echocardiography and polycystic ovarian morphology (PCOM) was found on the pelvic ultrasound. Furthermore, high levels of creatine phosphokinase (CPK), Lactic Acid Dehydrogenase (LDH) and hepatic liver enzymes, associated with muscular pseudohypertrophy and bilateral weakness of the lower limbs, were suggestive of a rare presentation of long-standing hypothyroidism defined Kocher-Debre-Semelaigne syndrome (KDSS). Levothyroxine replacement therapy was started immediately, leading to a rapid improvement of symptoms and a progressive normalization of the biochemical parameters. Due to persistent lower limb weakness, further neurological investigations were performed, showing bilateral peripheral polyneuropathy (PNP), ascribable to the longstanding and severe hypothyroidism. A pelvic ultrasound, performed after thyroid hormones had normalised and menses had turned to be regular, showed normal ovarian features supporting the hypothesis of the Van Wyk and Grumbach syndrome in a post-menarcheal girl.although clinical manifestation of hypothyroidism are usually mild, more severe and rare presentations such as ovarian dysfunction and myopathy are possible, particularly if the diagnosis is delayed and replacement therapy is not promptly administered.

Published
2021

26. SEPTIC SHOCK in the FIRST THREE MONTHS of LIFE

Author

Crestani, S., Passini, E., Spaggiari, V., Toffoli, C., Boncompagni, A., Bedetti, L., Spaggiari, E., Lucaccioni, L., Lugli, L., Roversi, F., Rossi, K., Iughetti, L., and Berardi, A.

Subjects
Treatment, Sepsis, Septic shock, Infant, Newborn
Published
2021

29. Continuous Subcutaneous Insulin Infusion in Italy: Third National Survey

Author

Bruttomesso D., Laviola L., Lepore G., Bonfanti R., Bozzetto L., Corsi A., Di Blasi V., Girelli A., Grassi G., Iafusco D., Rabbone I., Schiaffini R., Montani V., Colleluori P., Paciotti V., Alfidi P., Grosso J., Tumini S., Cipriano P., Vitacolonna E., Di Vieste G., Minnucci A., Antenucci D., La Penna G., Taraborrelli M., Macerala B., Citro G., De Morelli G., Gnasso A., Irace C., Citriniti F., Lazzaro N., Bruzzese M., Mammi F., De Berardinis F., Santoro E., Corigliano G., Corigliano M., Parillo M., Schettino M., Fresa R., Annuzzi G., Bassi V., Santinelli C., Buono P., Mozzillo E., De Feo E., Esposito K., Petrizzo M., Foglia A., Gatti A., Gentile S., Guarino G., Zanfardino A., Lambiase C., Vitale A., Zucchini S., Maltoni G., Forlani G., Moscatiello S., Suprani T., Bensa M., Tomasi F., Monesi M., Nizzoli M., Acquati S., Chierici G., Milli B., Iughetti L., Predieri B., Cavani R., Romano S., Manicardi V., Michelini M., Cimicchi M. C., Ugolotti D., Zavaroni I., Dei Cas A., Dall'Aglio E., Papi M., Tardio S. M., Calderini M. C., Riboni S., D'Amato L., Zavaroni D., Gastaldi L., Di Bartolo P., Pellicano F., Cirillo A., Graziani V., Di Secli C., Amarri S., Lasagni A., Marsciani A., Pedini A., Pagliani U., Rossi C., Tortul C., Brunato B., Assaloni R., Zanette G., Livolsi P., Petrucco A., Tercelj K., Manca E., Candido R., Tommasi E., Tornese G., Faleschini E., Tonutti L., Agus S., Zanatta M., Rosolen A., Comici A., Graziano F. M., Misischi I., Pozzilli P., Maurizi A. R., Falasca P., Tuccinardi F., Ricciardi G. P., Di Masa P., Ragonese M., Cipolloni L., Buzzetti R., Moretti C., Leto G., Crino A., Bocchini S., Di Perna P., Giuliano M., Frontoni S., Malandrucco I., Pitocco D., Scalpone R., Toscanella F., Cappa M., Ventura C., Bonato V., De Bernardinis M., Cavallo M. G., Leonetti F., Morano S., Mandosi E., Cicconetti E., Ciampittiello G., Marini M. A., Sabato D., Napoli A., Giraudo F., Toscano V., Massimiani F., Fava D., Gargiulo P., Mecca N., Tubili C., Nardone M. R., Morviducci L., Manca-Bitti M. L., Arcano S., Leotta S., Suraci C., Chiaramonte F., Visalli N., Forte E., Palmacci C., Arnaldi C., Tosini D., Querci F., Trevisan R., Bonfadini S., Prandi E., Felappi B., Locatelli F., Fuso V., Rocca A., Meneghini E., Massafra C., Terni T., Elli P., Ruggeri P., Carrai E., Musacchio N., Lovagnini Scher C. A., Marelli G., Vilei V., Richini D., Inversini C., Franzetti I., Bonacina M., Ciucci A., Sciangula L., Duratorre E., Bonomo M., Bertuzzi F., Chebat E., Muratori M., Scaramuzza A., Zuccotti G. V., Bollati P. M., Colapinto P., Orsi E., Palmieri E., Laurenzi A., Molinari C., Frontino G., Veronelli A., Zecchini B., Bianchi A., Torchio G., Lovati E., Ghilardi G., Dagani R., Carugo D., Berra C., Favacchio G., Fochesato E., Pissarelli A., Bucciarelli L., Bulgheroni M., Guerraggio L., Zonca S., Bossi A. C., Berzi D., Mangone I., Cazzaniga E., Rabini R. A., Boemi M., Faloia E., Boscaro M., Sternari G., Iannilli A., Cherubini V., Busciantella Ricci N., Cartechini M. G., Tesei A. M., Maolo G., Galetta M., Vespasiani G., Tinti G., Manfrini S., Aiello A., Di Vincenzo S., Vitale C., Di Caro P., Lera R., Secco A., Lesina A., Romeo F., Origlia C., Giorda C., Chiambretti A. M., Fornengo R., De Donno V., Gallarotti F., Manti R., Marafetti L., Cadario F., Savastio S., Barbieri P., Massucco P., Ali A., Gottero C., Degiovanni M., Bertaina S., Maghenzani G., Tinti D., Fontana F., Giorgino F., Stefanelli G., Cavallo L., Zecchino C., Piccinno E., Ortolani F., Gallo F., Moramarco F., Marino A., Sparasci G., Mileti G., Lamacchia O., Picca G., Coccioli M. S., Micale F., Serra R., Romano I., Savino T., De Cosmo S., Rauseo A., Delvecchio M., Lapolla R., Braione A. F., Papagno G., Baroni M., Melis M., Cossu E., Songini M., Cambuli V. M., Lo Presti D., Timpanaro T. A., Chiavetta A., Garofalo M. R., Tommaselli L., Tumminia A., Scarpitta A. M., Di Benedetto A., Giunta L., Lombardo F., Salzano G., Cardella F., Roppolo R., Provenzano V., Fleres M., Migliorini S., De Luca A., Leopardi A., Beltrami C., Toni S., Guasti G., Lenzi L., Lamanna C., Mannucci E., Lucchesi S., Dicianni G., Aragona M., Del Prato S., Fattor B., Eisath J., Pasquino B., Reinstadler P., Kaufmann P., Incelli G., Rauch S., Romanelli T., Cauvin V., Franceschi R., Soldani C., Scattoni R., Norgiolini R., Celleno R., Torlone E., Bolli G. B., Lalli C., Scarponi M., Bobbio A., Bechaz M., Pianta A., Marangoni A., Arico C. N., Alagona C., Confortin L., Rossi E., Boscolo Bariga A., Nogara A., Bettio M., Frison V., Guidoni G. L., Fongher C., Contin M. L., Cosma A., Vianello S., Bondesan L., Morea A., Volpi A., Coracina A., Panebianco G., Lombardi S., Costa S., Cipponeri E., Vedovato M., Scotton R., Monciotti C. M., Galderisi A., Dalfra M. G., Lapolla A., Zanon M., Lisato G., Mollo F., Calcaterra F., Miola M., Paccagnella A., Sambataro M., Moro E., Trombetta M., Negri C., Sabbion A., Maffeis C., Strazzabosco M., Mesturino C. A., Mingardi R., Bruttomesso, D., Laviola, L., Lepore, G., Bonfanti, R., Bozzetto, L., Corsi, A., Di Blasi, V., Girelli, A., Grassi, G., Iafusco, D., Rabbone, I., Schiaffini, R., Montani, V., Colleluori, P., Paciotti, V., Alfidi, P., Grosso, J., Tumini, S., Cipriano, P., Vitacolonna, E., Di Vieste, G., Minnucci, A., Antenucci, D., La Penna, G., Taraborrelli, M., Macerala, B., Citro, G., De Morelli, G., Gnasso, A., Irace, C., Citriniti, F., Lazzaro, N., Bruzzese, M., Mammi, F., De Berardinis, F., Santoro, E., Corigliano, G., Corigliano, M., Parillo, M., Schettino, M., Fresa, R., Annuzzi, G., Bassi, V., Santinelli, C., Buono, P., Mozzillo, E., De Feo, E., Esposito, K., Petrizzo, M., Foglia, A., Gatti, A., Gentile, S., Guarino, G., Zanfardino, A., Lambiase, C., Vitale, A., Zucchini, S., Maltoni, G., Forlani, G., Moscatiello, S., Suprani, T., Bensa, M., Tomasi, F., Monesi, M., Nizzoli, M., Acquati, S., Chierici, G., Milli, B., Iughetti, L., Predieri, B., Cavani, R., Romano, S., Manicardi, V., Michelini, M., Cimicchi, M. C., Ugolotti, D., Zavaroni, I., Dei Cas, A., Dall'Aglio, E., Papi, M., Tardio, S. M., Calderini, M. C., Riboni, S., D'Amato, L., Zavaroni, D., Gastaldi, L., Di Bartolo, P., Pellicano, F., Cirillo, A., Graziani, V., Di Secli, C., Amarri, S., Lasagni, A., Marsciani, A., Pedini, A., Pagliani, U., Rossi, C., Tortul, C., Brunato, B., Assaloni, R., Zanette, G., Livolsi, P., Petrucco, A., Tercelj, K., Manca, E., Candido, R., Tommasi, E., Tornese, G., Faleschini, E., Tonutti, L., Agus, S., Zanatta, M., Rosolen, A., Comici, A., Graziano, F. M., Misischi, I., Pozzilli, P., Maurizi, A. R., Falasca, P., Tuccinardi, F., Ricciardi, G. P., Di Masa, P., Ragonese, M., Cipolloni, L., Buzzetti, R., Moretti, C., Leto, G., Crino, A., Bocchini, S., Di Perna, P., Giuliano, M., Frontoni, S., Malandrucco, I., Pitocco, D., Scalpone, R., Toscanella, F., Cappa, M., Ventura, C., Bonato, V., De Bernardinis, M., Cavallo, M. G., Leonetti, F., Morano, S., Mandosi, E., Cicconetti, E., Ciampittiello, G., Marini, M. A., Sabato, D., Napoli, A., Giraudo, F., Toscano, V., Massimiani, F., Fava, D., Gargiulo, P., Mecca, N., Tubili, C., Nardone, M. R., Morviducci, L., Manca-Bitti, M. L., Arcano, S., Leotta, S., Suraci, C., Chiaramonte, F., Visalli, N., Forte, E., Palmacci, C., Arnaldi, C., Tosini, D., Querci, F., Trevisan, R., Bonfadini, S., Prandi, E., Felappi, B., Locatelli, F., Fuso, V., Rocca, A., Meneghini, E., Massafra, C., Terni, T., Elli, P., Ruggeri, P., Carrai, E., Musacchio, N., Lovagnini Scher, C. A., Marelli, G., Vilei, V., Richini, D., Inversini, C., Franzetti, I., Bonacina, M., Ciucci, A., Sciangula, L., Duratorre, E., Bonomo, M., Bertuzzi, F., Chebat, E., Muratori, M., Scaramuzza, A., Zuccotti, G. V., Bollati, P. M., Colapinto, P., Orsi, E., Palmieri, E., Laurenzi, A., Molinari, C., Frontino, G., Veronelli, A., Zecchini, B., Bianchi, A., Torchio, G., Lovati, E., Ghilardi, G., Dagani, R., Carugo, D., Berra, C., Favacchio, G., Fochesato, E., Pissarelli, A., Bucciarelli, L., Bulgheroni, M., Guerraggio, L., Zonca, S., Bossi, A. C., Berzi, D., Mangone, I., Cazzaniga, E., Rabini, R. A., Boemi, M., Faloia, E., Boscaro, M., Sternari, G., Iannilli, A., Cherubini, V., Busciantella Ricci, N., Cartechini, M. G., Tesei, A. M., Maolo, G., Galetta, M., Vespasiani, G., Tinti, G., Manfrini, S., Aiello, A., Di Vincenzo, S., Vitale, C., Di Caro, P., Lera, R., Secco, A., Lesina, A., Romeo, F., Origlia, C., Giorda, C., Chiambretti, A. M., Fornengo, R., De Donno, V., Gallarotti, F., Manti, R., Marafetti, L., Cadario, F., Savastio, S., Barbieri, P., Massucco, P., Ali, A., Gottero, C., Degiovanni, M., Bertaina, S., Maghenzani, G., Tinti, D., Fontana, F., Giorgino, F., Stefanelli, G., Cavallo, L., Zecchino, C., Piccinno, E., Ortolani, F., Gallo, F., Moramarco, F., Marino, A., Sparasci, G., Mileti, G., Lamacchia, O., Picca, G., Coccioli, M. S., Micale, F., Serra, R., Romano, I., Savino, T., De Cosmo, S., Rauseo, A., Delvecchio, M., Lapolla, R., Braione, A. F., Papagno, G., Baroni, M., Melis, M., Cossu, E., Songini, M., Cambuli, V. M., Lo Presti, D., Timpanaro, T. A., Chiavetta, A., Garofalo, M. R., Tommaselli, L., Tumminia, A., Scarpitta, A. M., Di Benedetto, A., Giunta, L., Lombardo, F., Salzano, G., Cardella, F., Roppolo, R., Provenzano, V., Fleres, M., Migliorini, S., De Luca, A., Leopardi, A., Beltrami, C., Toni, S., Guasti, G., Lenzi, L., Lamanna, C., Mannucci, E., Lucchesi, S., Dicianni, G., Aragona, M., Del Prato, S., Fattor, B., Eisath, J., Pasquino, B., Reinstadler, P., Kaufmann, P., Incelli, G., Rauch, S., Romanelli, T., Cauvin, V., Franceschi, R., Soldani, C., Scattoni, R., Norgiolini, R., Celleno, R., Torlone, E., Bolli, G. B., Lalli, C., Scarponi, M., Bobbio, A., Bechaz, M., Pianta, A., Marangoni, A., Arico, C. N., Alagona, C., Confortin, L., Rossi, E., Boscolo Bariga, A., Nogara, A., Bettio, M., Frison, V., Guidoni, G. L., Fongher, C., Contin, M. L., Cosma, A., Vianello, S., Bondesan, L., Morea, A., Volpi, A., Coracina, A., Panebianco, G., Lombardi, S., Costa, S., Cipponeri, E., Vedovato, M., Scotton, R., Monciotti, C. M., Galderisi, A., Dalfra, M. G., Lapolla, A., Zanon, M., Lisato, G., Mollo, F., Calcaterra, F., Miola, M., Paccagnella, A., Sambataro, M., Moro, E., Trombetta, M., Negri, C., Sabbion, A., Maffeis, C., Strazzabosco, M., Mesturino, C. A., Mingardi, R., Bruttomesso, D, Laviola, L, Lepore, G, Bonfanti, R, Bozzetto, L, Corsi, A, Di Blasi, V, Girelli, A, Grassi, G, Iafusco, D, Rabbone, I, Schiaffini, R, Montani, V, Colleluori, P, Paciotti, V, Alfidi, P, Grosso, J, Tumini, S, Cipriano, P, Vitacolonna, E, Di Vieste, G, Minnucci, A, Antenucci, D, La Penna, G, Taraborrelli, M, Macerala, B, Citro, G, De Morelli, G, Gnasso, A, Irace, C, Citriniti, F, Lazzaro, N, Bruzzese, M, Mammi, F, De Berardinis, F, Santoro, E, Corigliano, G, Corigliano, M, Parillo, M, Schettino, M, Fresa, R, Annuzzi, G, Bassi, V, Santinelli, C, Buono, P, Mozzillo, E, De Feo, E, Esposito, K, Petrizzo, M, Foglia, A, Gatti, A, Gentile, S, Guarino, G, Zanfardino, A, Lambiase, C, Vitale, A, Zucchini, S, Maltoni, G, Forlani, G, Moscatiello, S, Suprani, T, Bensa, M, Tomasi, F, Monesi, M, Nizzoli, M, Acquati, S, Chierici, G, Milli, B, Iughetti, L, Predieri, B, Cavani, R, Romano, S, Manicardi, V, Michelini, M, Cimicchi, M, Ugolotti, D, Zavaroni, I, Dei Cas, A, Dall'Aglio, E, Papi, M, Tardio, S, Calderini, M, Riboni, S, D'Amato, L, Zavaroni, D, Gastaldi, L, Di Bartolo, P, Pellicano, F, Cirillo, A, Graziani, V, Di Secli, C, Amarri, S, Lasagni, A, Marsciani, A, Pedini, A, Pagliani, U, Rossi, C, Tortul, C, Brunato, B, Assaloni, R, Zanette, G, Livolsi, P, Petrucco, A, Tercelj, K, Manca, E, Candido, R, Tommasi, E, Tornese, G, Faleschini, E, Tonutti, L, Agus, S, Zanatta, M, Rosolen, A, Comici, A, Graziano, F, Misischi, I, Pozzilli, P, Maurizi, A, Falasca, P, Tuccinardi, F, Ricciardi, G, Di Masa, P, Ragonese, M, Cipolloni, L, Buzzetti, R, Moretti, C, Leto, G, Crino, A, Bocchini, S, Di Perna, P, Giuliano, M, Frontoni, S, Malandrucco, I, Pitocco, D, Scalpone, R, Toscanella, F, Cappa, M, Ventura, C, Bonato, V, De Bernardinis, M, Cavallo, M, Leonetti, F, Morano, S, Mandosi, E, Cicconetti, E, Ciampittiello, G, Marini, M, Sabato, D, Napoli, A, Giraudo, F, Toscano, V, Massimiani, F, Fava, D, Gargiulo, P, Mecca, N, Tubili, C, Nardone, M, Morviducci, L, Manca-Bitti, M, Arcano, S, Leotta, S, Suraci, C, Chiaramonte, F, Visalli, N, Forte, E, Palmacci, C, Arnaldi, C, Tosini, D, Querci, F, Trevisan, R, Bonfadini, S, Prandi, E, Felappi, B, Locatelli, F, Fuso, V, Rocca, A, Meneghini, E, Massafra, C, Terni, T, Elli, P, Ruggeri, P, Carrai, E, Musacchio, N, Lovagnini Scher, C, Marelli, G, Vilei, V, Richini, D, Inversini, C, Franzetti, I, Bonacina, M, Ciucci, A, Sciangula, L, Duratorre, E, Bonomo, M, Bertuzzi, F, Chebat, E, Muratori, M, Scaramuzza, A, Zuccotti, G, Bollati, P, Colapinto, P, Orsi, E, Palmieri, E, Laurenzi, A, Molinari, C, Frontino, G, Veronelli, A, Zecchini, B, Bianchi, A, Torchio, G, Lovati, E, Ghilardi, G, Dagani, R, Carugo, D, Berra, C, Favacchio, G, Fochesato, E, Pissarelli, A, Bucciarelli, L, Bulgheroni, M, Guerraggio, L, Zonca, S, Bossi, A, Berzi, D, Mangone, I, Cazzaniga, E, Rabini, R, Boemi, M, Faloia, E, Boscaro, M, Sternari, G, Iannilli, A, Cherubini, V, Busciantella Ricci, N, Cartechini, M, Tesei, A, Maolo, G, Galetta, M, Vespasiani, G, Tinti, G, Manfrini, S, Aiello, A, Di Vincenzo, S, Vitale, C, Di Caro, P, Lera, R, Secco, A, Lesina, A, Romeo, F, Origlia, C, Giorda, C, Chiambretti, A, Fornengo, R, De Donno, V, Gallarotti, F, Manti, R, Marafetti, L, Cadario, F, Savastio, S, Barbieri, P, Massucco, P, Ali, A, Gottero, C, Degiovanni, M, Bertaina, S, Maghenzani, G, Tinti, D, Fontana, F, Giorgino, F, Stefanelli, G, Cavallo, L, Zecchino, C, Piccinno, E, Ortolani, F, Gallo, F, Moramarco, F, Marino, A, Sparasci, G, Mileti, G, Lamacchia, O, Picca, G, Coccioli, M, Micale, F, Serra, R, Romano, I, Savino, T, De Cosmo, S, Rauseo, A, Delvecchio, M, Lapolla, R, Braione, A, Papagno, G, Baroni, M, Melis, M, Cossu, E, Songini, M, Cambuli, V, Lo Presti, D, Timpanaro, T, Chiavetta, A, Garofalo, M, Tommaselli, L, Tumminia, A, Scarpitta, A, Di Benedetto, A, Giunta, L, Lombardo, F, Salzano, G, Cardella, F, Roppolo, R, Provenzano, V, Fleres, M, Migliorini, S, De Luca, A, Leopardi, A, Beltrami, C, Toni, S, Guasti, G, Lenzi, L, Lamanna, C, Mannucci, E, Lucchesi, S, Dicianni, G, Aragona, M, Del Prato, S, Fattor, B, Eisath, J, Pasquino, B, Reinstadler, P, Kaufmann, P, Incelli, G, Rauch, S, Romanelli, T, Cauvin, V, Franceschi, R, Soldani, C, Scattoni, R, Norgiolini, R, Celleno, R, Torlone, E, Bolli, G, Lalli, C, Scarponi, M, Bobbio, A, Bechaz, M, Pianta, A, Marangoni, A, Arico, C, Alagona, C, Confortin, L, Rossi, E, Boscolo Bariga, A, Nogara, A, Bettio, M, Frison, V, Guidoni, G, Fongher, C, Contin, M, Cosma, A, Vianello, S, Bondesan, L, Morea, A, Volpi, A, Coracina, A, Panebianco, G, Lombardi, S, Costa, S, Cipponeri, E, Vedovato, M, Scotton, R, Monciotti, C, Galderisi, A, Dalfra, M, Lapolla, A, Zanon, M, Lisato, G, Mollo, F, Calcaterra, F, Miola, M, Paccagnella, A, Sambataro, M, Moro, E, Trombetta, M, Negri, C, Sabbion, A, Maffeis, C, Strazzabosco, M, Mesturino, C, Mingardi, R, Bruttomesso, Daniela, Laviola, Luigi, Lepore, Giuseppe, Bonfanti, Riccardo, Bozzetto, Lutgarda, Corsi, Andrea, Di Blasi, Vincenzo, Girelli, Angela, Grassi, Giorgio, Iafusco, Dario, Rabbone, Ivana, Schiaffini, Riccardo, and Tornese, Gianluca

Subjects
Blood Glucose, Male, Pediatrics, Glucose control, IMPACT, Cost-Benefit Analysis, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, CHILDREN, Practice Patterns, Infusions, Subcutaneous, law.invention, Settore MED/13, Endocrinology, Randomized controlled trial, law, Surveys and Questionnaires, Insulin, Practice Patterns, Physicians', Child, Adult, Diabetes Mellitus, Type 1, Female, Guideline Adherence, Health Care Surveys, Humans, Hypoglycemic Agents, Italy, Medical Laboratory Technology, Medicine (all), PUMP THERAPY, Subcutaneous, Diabetes, Diabetes and Metabolism, TERM METABOLIC-CONTROL, Human, Type 1, Infusions, medicine.medical_specialty, Keywords KeyWords Plus:TERM METABOLIC-CONTROL, BOLUS CALCULATOR, PEDIATRIC-PATIENTS, CONTROLLED-TRIAL, CSII, Diabetes mellitus, Diabetes Mellitus, medicine, term metabolic-control, bolus calculator, pump therapy, pediatric-patients, controlled-trial, children, impact CSII, Glucose sensors, Cost-Benefit Analysi, Intensive care medicine, Type 1 diabetes, Physicians', Hypoglycemic Agent, business.industry, medicine.disease, Subcutaneous insulin, Infusions, Subcutaneou, Multicenter study, Health Care Survey, business
Abstract

Background: Continuous subcutaneous insulin infusion (CSII) is increasing worldwide, mostly because of improved technology. The aim of this study was to evaluate the current status of CSII in Italy. Materials and Methods: Physicians from 272 diabetes centers received a questionnaire investigating clinical features, pump technology, and management of patients on CSII. Results: Two hundred seventeen centers (79.8%) joined the study and, by the end of April 2013, gave information about 10,152 patients treated with CSII: 98.2% with type 1 diabetes mellitus, 81.4% adults, 57% female, and 61% with a conventional pump versus 39% with a sensor-augmented pump. CSII advanced functions were used by 68% of patients, and glucose sensors were used 12 days per month on average. Fifty-eight percent of diabetes centers had more than 20 patients on CSII, but there were differences among centers and among regions. The main indication for CSII was poor glucose control. Dropout was mainly due to pump wearability or nonoptimal glycemic control. Twenty-four hour assistance was guaranteed in 81% of centers. A full diabetes team (physician+ nurse + dietician + psychologist) was available in 23% of adult-care diabetes centers and in 53%of pediatric diabetes units. Conclusions: CSII keeps increasing in Italy. More work is needed to ensure uniform treatment strategies throughout the country and to improve pump use.

Published
2015

37. Anthropometric characteristics of newborns with Prader-Willi syndrome

Author

Salvatoni, A, Moretti, A, Grugni, G, Agosti, M, Azzolini, S, Bonaita, V, Cianci, P, Corica, D, Crinò, A, Delvecchio, M, Ferraris, S, Greggio, N, Iughetti, L, Licenziati, M, Madeo, S, Nosetti, L, Pajno, R, Rutigliano, I, Sacco, M, Salvatore, S, Scarano, E, Trifirò, G, Wasniewska, M, Salvatoni, Alessandro, Moretti, Alex, Grugni, Graziano, Agosti, Massimo, Azzolini, Sara, Bonaita, Valentina, Cianci, Paola, Corica, Domenico, Crinò, Antonino, Delvecchio, Maurizio, Ferraris, Silvio, Greggio, Nella A, Iughetti, Lorenzo, Licenziati, Maria R, Madeo, Simona F, Nosetti, Luana, Pajno, Roberta, Rutigliano, Irene, Sacco, Michele, Salvatore, Silvia, Scarano, Emanuela, Trifirò, Giuliana, Wasniewska, Malgorzata, Salvatoni, A, Moretti, A, Grugni, G, Agosti, M, Azzolini, S, Bonaita, V, Cianci, P, Corica, D, Crinò, A, Delvecchio, M, Ferraris, S, Greggio, N, Iughetti, L, Licenziati, M, Madeo, S, Nosetti, L, Pajno, R, Rutigliano, I, Sacco, M, Salvatore, S, Scarano, E, Trifirò, G, Wasniewska, M, Salvatoni, Alessandro, Moretti, Alex, Grugni, Graziano, Agosti, Massimo, Azzolini, Sara, Bonaita, Valentina, Cianci, Paola, Corica, Domenico, Crinò, Antonino, Delvecchio, Maurizio, Ferraris, Silvio, Greggio, Nella A, Iughetti, Lorenzo, Licenziati, Maria R, Madeo, Simona F, Nosetti, Luana, Pajno, Roberta, Rutigliano, Irene, Sacco, Michele, Salvatore, Silvia, Scarano, Emanuela, Trifirò, Giuliana, and Wasniewska, Malgorzata

Abstract

This is a retrospective multicenter nationwide Italian study collecting neonatal anthropometric data of Caucasian subjects with Prader–Willi syndrome (PWS) born from 1988 to 2018. The aim of the study is to provide percentile charts for weight and length of singletons with PWS born between 36 and 42 gestational weeks. We collected the birth weight and birth length of 252 male and 244 female singleton live born infants with both parents of Italian origin and PWS genetically confirmed. Percentile smoothed curves of birth weight and length for gestational age were built through Cole's lambda, mu, sigma method. The data were compared to normal Italian standards. Newborns with PWS showed a lower mean birth weight, by 1/2 kg, and a shorter mean birth length, by 1 cm, than healthy neonates. Females with a 15q11-13 deletion were shorter than those with maternal uniparental maternal disomy of chromosome 15 (p <.0001). The present growth curves may be useful as further traits in supporting a suspicion of PWS in a newborn. Because impaired prenatal growth increases risk of health problems later in life, having neonatal anthropometric standards could be helpful to evaluate possible correlations between the presence or absence of small gestational age and some clinical and metabolic aspects of PWS.

Published
2019

43. Insulin pump failures in Italian children with Type 1 diabetes: retrospective 1-year cohort study

Author

Rabbone, I., Minuto, N., Bonfanti, R., Marigliano, M., Cerutti, F., Cherubini, V., d(')Annunzio, G., Frongia, A. P., Iafusco, D., Ignaccolo, G., Lombardo, F., Schiaffini, R., Toni, S., Tumini, S., Zucchini, S., Pistorio, A., Scaramuzza, A. E., Scaramuuzza, A. E., Lera, R., Secco, A., Bobbio, A., Bechaz, M., Piccinno, E., Natale, M. P., Ortolani, F., Zecchino, C., Lonero, A., Maltoni, G., Pasquino, B., Gallo, F., Frongia, P., Ripoli, C., Lo Presti, D., Timpanaro, T., Citriniti, F., Suprani, T., Carinci, S., Cipriano, P., Lazzaro, N., De Donno, V., Gallarotti, F., Lenzi, L., Piccini, B., Vittorio, L., Russo, C., Borea, R., Mamm(`i), F., Bruzzese, M., Ventrici, C., Salzano, G., Frontino, G., Bonura, C., Favalli, V., Scaramuzza, A., Zuccotti, G. V., Ferrari, M., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, E., Buono, P., Confetto, S., Zanfardino, A., Cadario, F., Savastio, S., Fiorito, C., Barbieri, P., Piredda, G., Cardella, F., Ropolo, R., Federico, G., Marchi, B., Benevento, D., Carducci, C., Mancabitti, M. L., Delvecchio, M., Lapolla, R., Gaiero, A., Fichera, G., Ignaccolo, M. G., Tinti, D., Cauvin, V., Franceschi, R., Biagioni, M., Salvatoni, A., Scolari, A., Maffeis, C., Sabbion, A., Arnaldi, C., Tosini, D., Rabbone, I, Minuto, N., Bonfanti, R., Marigliano, M., Cerutti, F., Cherubini, V., D'Annunzio, G., Frongia, A. P., Iafusco, Dario, Ignaccolo, G., Lombardo, F., Schiaffini, R., Toni, S., Tumini, S., Zucchini, S., Pistorio, A., Scaramuzza, A. E., Rabbone, I., Iafusco, D., Lera, R., Secco, A., Bobbio, A., Bechaz, M., Piccinno, E., Natale, M. P., Ortolani, F., Zecchino, C., Lonero, A., Maltoni, G., Pasquino, B., Gallo, F., Frongia, P., Ripoli, C., Lo Presti, D., Timpanaro, T., Citriniti, F., Suprani, T., Carinci, S., Cipriano, P., Lazzaro, N., De Donno, V., Gallarotti, F., Lenzi, L., Piccini, B., Vittorio, L., Russo, C., Borea, R., Mammi, F., Bruzzese, M., Ventrici, C., Salzano, G., Frontino, G., Bonura, C., Favalli, V., Scaramuzza, A., Zuccotti, G. V., Ferrari, M., Iughetti, L., Predieri, B., Franzese, A., Mozzillo, E., Buono, P., Confetto, S., Zanfardino, A., Cadario, F., Savastio, S., Fiorito, C., Barbieri, P., Piredda, G., Cardella, F., Ropolo, R., Federico, G., Marchi, B., Benevento, D., Carducci, C., Mancabitti, M. L., Del Vecchio, M., Lapolla, R., Gaiero, A., Fichera, G., Ignaccolo, M. G., Tinti, D., Cauvin, V., Franceschi, R., Biagioni, M., Salvatoni, A., Scolari, A., Maffeis, C., Sabbion, A., Arnaldi, C., Tosini, D., Rabbone, Minuto, Mammì, F., and Mozzillo, Enza.

Subjects
Blood Glucose, Male, Pediatrics, Adolescent, Blood Glucose Self-Monitoring, Child, Child, Preschool, Diabetes Mellitus, Type 1, Equipment Failure, Female, Humans, Infant, Insulin, Italy, Retrospective Studies, Insulin Infusion Systems, type 1 diabetes, medicine.medical_treatment, Endocrinology, Diabetes and Metabolism, Internal Medicine, Endocrinology, 0302 clinical medicine, Retrospective Studie, Medicine, 030212 general & internal medicine, Diabetes, Diabetology, failure, Diabetes and Metabolism, children and adolescents, insulin pump, Cohort study, Type 1, Human, Insulin pump, medicine.medical_specialty, Disease duration, 030209 endocrinology & metabolism, 03 medical and health sciences, Diabetes mellitus, Diabetes Mellitus, Preschool, Type 1 diabetes, business.industry, Diabetes, Type1, Pump, Insulin, Type1, Retrospective cohort study, Pump, medicine.disease, Surgery, Insulin Infusion System, business
Abstract

Aims Insulin pump failure and/or malfunction requiring replacement have not been thoroughly investigated. This study evaluated pump replacement in children and adolescents with Type 1 diabetes using insulin pump therapy. Methods Data were collected for all participants younger than 19 years, starting insulin pump therapy before 31 December 2013. For each child, age, disease duration, date of insulin pump therapy initiation, insulin pump model, failure/malfunction/replacement yes/no and reason were considered for the year 2013. Results Data were returned by 40 of 43 paediatric centres belonging to the Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology. In total, 1574 of 11 311 (13.9%) children and adolescents with Type 1 diabetes were using an insulin pump: 29.2% Animas VIBE™, 9.4% Medtronic MiniMed 715/515™, 34.3% Medtronic MiniMed VEO™, 24.3% Accu-Check Spirit Combo™ and 2.8% other models. In 2013, 0.165 insulin pump replacements per patient-year (11.8% due to pump failure/malfunction and 4.7% due to accidental damage) were recorded. Animas VIBE™ (22.1%) and Medtronic MiniMed VEO™ (17.7%) were the most replaced. Conclusions In a large cohort of Italian children and adolescents with Type 1 diabetes, insulin pump failure/malfunction and consequent replacement are aligned with rates previously reported and higher in more sophisticated pump models. This article is protected by copyright. All rights reserved.

Published
2017

44. Male or Female? What about disorders of sex development

Author

Lucaccioni, L, Boncompagni, A, Pietrella, E, Ceccarelli, Pl, Ferrari, F, Berardi, A, and Iughetti, L.

Subjects
Disorders of sex development, Gonadotrophins, Minipuberty, Disorders of sex development, Minipuberty, Gonadotrophins
Published
2018

49. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Author

Ivanovski, I. (Ivan), Djuric, O. (Olivera), Caraffi, S.G. (Stefano Giuseppe), Santodirocco, D. (Daniela), Pollazzon, M. (Marzia), Rosato, S. (Simonetta), Cordelli, D.M. (Duccio M.), Abdalla, E. (Ebtesam), Accorsi, P. (Patrizia), Adam, M.P. (Margaret), Ajmone, P.F. (Paola Francesca), Badura-Stronka, M. (Magdalena), Baldo, C. (Chiara), Baldi, M. (Maddalena), Bayat, A. (Allan), Bigoni, S. (Stefania), Bonvicini, F. (Federico), Breckpot, J. (Jeroen), Callewaert, L., Cocchi, G. (Guido), Cuturilo, G. (Goran), De Brasi, D. (Daniele), Devriendt, K. (Koenraad), Dinulos, M.B. (Mary Beth), Hjortshøj, T.D. (Tina Duelund), Epifanio, R. (Roberta), Faravelli, F. (Francesca), Fiumara, A. (Agata), Formisano, D. (Debora), Giordano, L. (Lucio), Grasso, M. (Marina), Grønborg, S. (Sabine), Iodice, A. (Alessandro), Iughetti, L. (Lorenzo), Kuburovic, V. (Vladimir), Kutkowska-Kazmierczak, A. (Anna), Lacombe, D. (Didier), Lo Rizzo, C. (Caterina), Luchetti, A. (Anna), Malbora, B. (Baris), Mammi, I. (Isabella), Mari, F. (Francesca), Montorsi, G. (Giulia), Moutton, S. (Sebastien), Møller, R.S. (Rikke), Muschke, P. (Petra), Nielsen, J.E.K. (Jens Erik Klint), Obersztyn, E. (Ewa), Pantaleoni, C. (Chiara), Pellicciari, A. (Alessandro), Pisanti, M.A. (Maria Antonietta), Prpic, I. (Igor), Poch-Olive, M.L. (Maria Luisa), Raviglione, F. (Federico), Renieri, A. (Alessandra), Ricci, E. (Emilia), Rivieri, F. (Francesca), Santen, G.W.E. (Gijs), Savasta, S. (Salvatore), Scarano, G. (Gioacchino), Schanze, I. (Ina), Selicorni, A. (Angelo), Silengo, M.C., Smigiel, R. (Robert), Spaccini, L. (Luigina), Sorge, G. (Giovanni), Szczaluba, K. (Krzysztof), Tarani, L. (Luigi), Tone, L.G. (Luis Gonzaga), Toutain, A. (Annick), Trimouille, A. (Aurelien), Valera, E.T. (Elvis Terci), Vergano, S.S. (Samantha Schrier), Zanotta, N. (Nicoletta), Zenker, M. (Martin), Conidi, A. (Andrea), Zollino, M., Rauch, A., Zweier, C. (Christiane), Garavelli, L. (Livia), Ivanovski, I. (Ivan), Djuric, O. (Olivera), Caraffi, S.G. (Stefano Giuseppe), Santodirocco, D. (Daniela), Pollazzon, M. (Marzia), Rosato, S. (Simonetta), Cordelli, D.M. (Duccio M.), Abdalla, E. (Ebtesam), Accorsi, P. (Patrizia), Adam, M.P. (Margaret), Ajmone, P.F. (Paola Francesca), Badura-Stronka, M. (Magdalena), Baldo, C. (Chiara), Baldi, M. (Maddalena), Bayat, A. (Allan), Bigoni, S. (Stefania), Bonvicini, F. (Federico), Breckpot, J. (Jeroen), Callewaert, L., Cocchi, G. (Guido), Cuturilo, G. (Goran), De Brasi, D. (Daniele), Devriendt, K. (Koenraad), Dinulos, M.B. (Mary Beth), Hjortshøj, T.D. (Tina Duelund), Epifanio, R. (Roberta), Faravelli, F. (Francesca), Fiumara, A. (Agata), Formisano, D. (Debora), Giordano, L. (Lucio), Grasso, M. (Marina), Grønborg, S. (Sabine), Iodice, A. (Alessandro), Iughetti, L. (Lorenzo), Kuburovic, V. (Vladimir), Kutkowska-Kazmierczak, A. (Anna), Lacombe, D. (Didier), Lo Rizzo, C. (Caterina), Luchetti, A. (Anna), Malbora, B. (Baris), Mammi, I. (Isabella), Mari, F. (Francesca), Montorsi, G. (Giulia), Moutton, S. (Sebastien), Møller, R.S. (Rikke), Muschke, P. (Petra), Nielsen, J.E.K. (Jens Erik Klint), Obersztyn, E. (Ewa), Pantaleoni, C. (Chiara), Pellicciari, A. (Alessandro), Pisanti, M.A. (Maria Antonietta), Prpic, I. (Igor), Poch-Olive, M.L. (Maria Luisa), Raviglione, F. (Federico), Renieri, A. (Alessandra), Ricci, E. (Emilia), Rivieri, F. (Francesca), Santen, G.W.E. (Gijs), Savasta, S. (Salvatore), Scarano, G. (Gioacchino), Schanze, I. (Ina), Selicorni, A. (Angelo), Silengo, M.C., Smigiel, R. (Robert), Spaccini, L. (Luigina), Sorge, G. (Giovanni), Szczaluba, K. (Krzysztof), Tarani, L. (Luigi), Tone, L.G. (Luis Gonzaga), Toutain, A. (Annick), Trimouille, A. (Aurelien), Valera, E.T. (Elvis Terci), Vergano, S.S. (Samantha Schrier), Zanotta, N. (Nicoletta), Zenker, M. (Martin), Conidi, A. (Andrea), Zollino, M., Rauch, A., Zweier, C. (Christiane), and Garavelli, L. (Livia)

Abstract

Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluatio

Published
2018
Full Text
View/download PDF

50. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Author

Ivanovski, I, Djuric, O, Caraffi, SG, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, PF, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, DeVriendt, K, Dinulos, MB, Hjortshoj, TD, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Moller, RS, Muschke, P, Nielsen, JEK, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Prpic, I, Poch-Olive, ML, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, GW, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, LG, Toutain, A, Trimouille, A, Valera, ET, Vergano, SS, Zanotta, N, Zenker, M, Conidi, Andrea, Zollino, M, Rauch, A, Zweier, C, Garavelli, L, Ivanovski, I, Djuric, O, Caraffi, SG, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, PF, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, DeVriendt, K, Dinulos, MB, Hjortshoj, TD, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Moller, RS, Muschke, P, Nielsen, JEK, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Prpic, I, Poch-Olive, ML, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, GW, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, LG, Toutain, A, Trimouille, A, Valera, ET, Vergano, SS, Zanotta, N, Zenker, M, Conidi, Andrea, Zollino, M, Rauch, A, Zweier, C, and Garavelli, L

Published
2018

Catalog

Books, media, physical & digital resources
See catalog results