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2. Recording Electrical Brain Activity with Novel Stretchable Electrodes Based on Supersonic Cluster Beam Implantation Nanotechnology on Conformable Polymers

Author

Gnatkovsky V, Cattalini A, Antonini A, Spreafico L, Saini M, Noè F, Alessi C, Librizzi L, Uva L, Marras CE, de Curtis M, and Ferrari S

Subjects
rain, field potentials, recording electrodes, supersonic cluster beam implantation, Medicine (General), R5-920
Abstract

Vadym Gnatkovsky,1 Alessandro Cattalini,1 Alessandro Antonini,2 Laura Spreafico,2 Matteo Saini,2 Francesco Noè,1 Camilla Alessi,1 Laura Librizzi,1 Laura Uva,1 Carlo Efisio Marras,3 Marco de Curtis,1 Sandro Ferrari2 1Unit of Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; 2WISE Srl, Cologno Monzese, Milano, Italy; 3Neurosurgery Unit, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children’s Hospital, Roma, ItalyCorrespondence: Vadym GnatkovskyUnit of Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Amadeo, 42, Milano 20133, ItalyTel +39 0223944518Email Vadym.Gnatkovsky@istituto-besta.itBackground: Multielectrodes are implanted in central and peripheral nervous systems for rehabilitation and diagnostic purposes. The physical resistance of intracranial devices to mechanical stress is critical and fractures or electrode displacement may occur. We describe here a new recording device with stretchable properties based on Supersonic Cluster Beam Implantation (SCBI) technology with high mechanical adaptability to displacement and movement.Results: The capability of SCBI-based multichannel electrodes to record brain electrical activity was compared to glass/silicon microelectrodes in acute in vitro experiments on the isolated guinea pig brain preparation. Field potentials and power frequency analysis demonstrated equal recording features for SCBI and standard electrodes. Chronic in vivo epidural implantation of the SCBI electrodes confirmed excellent long-term recording properties in comparison to standard EEG metal electrodes. Tissue biocompatibility was demonstrated by neuropathological evaluation of the brain tissue 2 months after the implantation of the devices in the subarachnoid space.Conclusion: We confirm the biocompatibility of novel SCBI-based stretchable electrode devices and demonstrate their suitability for recording electrical brain activity in pre-clinical settings.Keywords: brain, field potentials, recording electrodes, supersonic cluster beam implantation

Published
2019

3. Selective Cerebrospinal Fluid Hypothermia: Bioengineering Development and In Vivo Study of an Intraventricular Cooling Device (V-COOL)

Author

Beretta, S, Versace, A, Fiore, G, Piola, M, Martini, B, Bigiogera, V, Coppadoro, L, Mariani, J, Tinti, L, Pirovano, S, Monza, L, Carone, D, Riva, M, Padovano, G, Galbiati, G, Santangelo, F, Rasponi, M, Padelli, F, Giachetti, I, Aquino, D, Diamanti, S, Librizzi, L, Bruzzone, M, De Curtis, M, Giussani, C, Sganzerla, E, Ferrarese, C, Beretta S., Versace A., Fiore G., Piola M., Martini B., Bigiogera V., Coppadoro L., Mariani J., Tinti L., Pirovano S., Monza L., Carone D., Riva M., Padovano G., Galbiati G., Santangelo F., Rasponi M., Padelli F., Giachetti I., Aquino D., Diamanti S., Librizzi L., Bruzzone M. G., De Curtis M., Giussani C., Sganzerla E. P., Ferrarese C., Beretta, S, Versace, A, Fiore, G, Piola, M, Martini, B, Bigiogera, V, Coppadoro, L, Mariani, J, Tinti, L, Pirovano, S, Monza, L, Carone, D, Riva, M, Padovano, G, Galbiati, G, Santangelo, F, Rasponi, M, Padelli, F, Giachetti, I, Aquino, D, Diamanti, S, Librizzi, L, Bruzzone, M, De Curtis, M, Giussani, C, Sganzerla, E, Ferrarese, C, Beretta S., Versace A., Fiore G., Piola M., Martini B., Bigiogera V., Coppadoro L., Mariani J., Tinti L., Pirovano S., Monza L., Carone D., Riva M., Padovano G., Galbiati G., Santangelo F., Rasponi M., Padelli F., Giachetti I., Aquino D., Diamanti S., Librizzi L., Bruzzone M. G., De Curtis M., Giussani C., Sganzerla E. P., and Ferrarese C.

Abstract

Hypothermia is a promising therapeutic strategy for severe vasospasm and other types of non-thrombotic cerebral ischemia, but its clinical application is limited by significant systemic side effects. We aimed to develop an intraventricular device for the controlled cooling of the cerebrospinal fluid, to produce a targeted hypothermia in the affected cerebral hemisphere with a minimal effect on systemic temperature. An intraventricular cooling device (acronym: V-COOL) was developed by in silico modelling, in vitro testing, and in vivo proof-of-concept application in healthy Wistar rats (n = 42). Cerebral cortical temperature, rectal temperature, and intracranial pressure were monitored at increasing flow rate (0.2 to 0.8 mL/min) and duration of application (10 to 60 min). Survival, neurological outcome, and MRI volumetric analysis of the ventricular system were assessed during the first 24 h. The V-COOL prototyping was designed to minimize extra-cranial heat transfer and intra-cranial pressure load. In vivo application of the V-COOL device produced a flow rate-dependent decrease in cerebral cortical temperature, without affecting systemic temperature. The target degree of cerebral cooling (− 3.0 °C) was obtained in 4.48 min at the flow rate of 0.4 mL/min, without significant changes in intracranial pressure. Survival and neurological outcome at 24 h showed no significant difference compared to sham-treated rats. MRI study showed a transient dilation of the ventricular system (+ 38%) in a subset of animals. The V-COOL technology provides an effective, rapid, selective, and safe cerebral cooling to a clinically relevant degree of − 3.0 °C.

Published
2022

4. A debate on the neuronal origin of focal seizures

Author

Wenzel, M, Huberfeld, G, Grayden, DB, de Curtis, M, Trevelyan, AJ, Wenzel, M, Huberfeld, G, Grayden, DB, de Curtis, M, and Trevelyan, AJ

Abstract

A critical question regarding how focal seizures start is whether we can identify particular cell classes that drive the pathological process. This was the topic for debate at the recent International Conference for Technology and Analysis of Seizures (ICTALS) meeting (July 2022, Bern, CH) that we summarize here. The debate has been fueled in recent times by the introduction of powerful new ways to manipulate subpopulations of cells in relative isolation, mostly using optogenetics. The motivation for resolving the debate is to identify novel targets for therapeutic interventions through a deeper understanding of the etiology of seizures.

Published
2023

14. Focal seizures are organized by feedback between neural activity and ion concentration changes

Author

Damiano Gentiletti, Piotr Suffczynski, Gnatkovsky, and de Curtis M

Subjects
Chemistry, Negative feedback, Premovement neuronal activity, Ictal, Inhibitory postsynaptic potential, Neuroscience, Homeostasis, Positive feedback, Ion, Postictal state
Abstract

Human and animal EEG data demonstrate that focal seizures start with low-voltage fast activity, evolve into rhythmic burst discharges and are followed by a period of suppressed background activity. This suggests that processes with dynamics in the range of tens of seconds govern focal seizure evolution. We investigate the processes associated with seizure dynamics by complementing the Hodgkin-Huxley mathematical model with the physical laws that dictate ion movement and maintain ionic gradients. Our biophysically realistic computational model closely replicates the electrographic pattern of a typical human focal seizure characterized by low voltage fast activity onset, tonic phase, clonic phase and postictal suppression. Our study demonstrates, for the first time in silico, the potential mechanism of seizure initiation by inhibitory interneurons via the initial build-up of extracellular K+ due to intense interneuronal spiking. The model also identifies ionic mechanisms that may underlie a key feature in seizure dynamics, i.e., progressive slowing down of ictal discharges towards the end of seizure. Our model prediction of specific scaling of inter-burst intervals is confirmed by seizure data recorded in the whole guinea pig brain in vitro and in humans, suggesting that the observed termination pattern may hold across different species. Our results emphasize ionic dynamics as elementary processes behind seizure generation and indicate targets for new therapeutic strategies.

Published
2021
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16. Changes in ventilator strategies and outcomes in preterm infants

Author

Vendettuoli, Valentina, Bellù, Roberto, Zanini, Rinaldo, Mosca, Fabio, Gagliardi, Luigi, Turoli, D, Weissmann, G, De Nisi, G, Barbarini, M, Villa, E, Franco, C, Fasolato, V, Contiero, MR, Cattarossi, L, Ellero, S, Tagliabue, P, Abbiati, L, Fabris, C, Prandi, G, Vielmi, F, Agosti, M, Tandoi, F, De Curtis, M, Lucchini, R, Ferrari, F, Gallo, C, Bellante, E, Boccacci, S, Latini, G, Giannuzzi, R, Martinelli, S, Brunelli, A, Di Nunzio, ML, Filippone, M, Carli, G, Ancora, G, Mammoliti, P, Gancia, GP, Dalmazzo, C, Messina, F, Magaldi, R, Rinaldi, M, Lago, P, Saia, OS, Visentin, S, Presta, G, Cella, D, Poggiani, C, Ferrari, D, Barera, G, Bove, M, Burgio, G, Sala, E, Barberi, I, Tiralongo, V, Faldella, G, Grandi, S, and Cimatti, AG

Published
2014
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17. Caution advised regarding lung recruitment before surfactant – Authors’ reply

Author

Vento, Giovanni, Ventura, M. L., Pastorino, Roberta, van Kaam, A. H., Carnielli, V., Cools, F., Dani, C., Mosca, F., Polglase, G., Tagliabue, P., Boni, L., Cota, Francesco, Tana, Milena, Tirone, Chiara, Aurilia, Claudia, Lio, Alessandra, Cost, S., D'Andrea, Vito, Lucente, Monica Christine, Nigro, G., Giordano, Lucia, Roma, V., Villani, P., Fusco, Francesca Paola, Fasolato, V., Colnaghi, M. R., Matassa, P. G., Vendettuoli, V., Poggi, C., Del Vecchi, A., Petrillo, F., Betta, P., Mattia, C., Garani, G., Solinas, A., Gitto, E., Salvo, V., Gargano, G., Balestri, E., Sandri, F., Mescoli, G., Martinelli, Silvia, Ilardi, L., Ciarmoli, E., Di Fabio, S., Maranella, E., Grassia, C., Ausanio, G., Rossi, V., Motta, A., Tina, L. G., Maiolo, K., Nobile, Stefano, Messner, H., Staffler, Alex, Ferrero, F., Stasi, I., Pieragostini, L., Mondello, I., Haass, C., Consigli, C., Vedovato, S., Grison, A., Maffei, G., Presta, G., Perniola, R., Vitaliti, M., Re, M. P., De Curtis, M., Cardilli, V., Lago, P., Tormena, F., Orfeo, L., Gizzi, C., Massenzi, L., Gazzolo, D., Strozzi, M. C. M., Bottino, R., Pontiggia, F., Berardi, A., Guidotti, I., Cacace, C., Meli, V., Quartulli, L., Scorrano, A., Casati, A., Grappone, L., Pillow, J. J., Vento G. (ORCID:0000-0002-8132-5127), Pastorino R. (ORCID:0000-0001-5013-0733), Cota F. (ORCID:0000-0002-9009-3997), Tana M., Tirone C., Aurilia C., Lio A., D'Andrea V. (ORCID:0000-0002-0980-799X), Lucente M., Giordano L., Fusco F. P., Martinelli S., Nobile S. (ORCID:0000-0002-5304-1485), Staffler A., Vento, Giovanni, Ventura, M. L., Pastorino, Roberta, van Kaam, A. H., Carnielli, V., Cools, F., Dani, C., Mosca, F., Polglase, G., Tagliabue, P., Boni, L., Cota, Francesco, Tana, Milena, Tirone, Chiara, Aurilia, Claudia, Lio, Alessandra, Cost, S., D'Andrea, Vito, Lucente, Monica Christine, Nigro, G., Giordano, Lucia, Roma, V., Villani, P., Fusco, Francesca Paola, Fasolato, V., Colnaghi, M. R., Matassa, P. G., Vendettuoli, V., Poggi, C., Del Vecchi, A., Petrillo, F., Betta, P., Mattia, C., Garani, G., Solinas, A., Gitto, E., Salvo, V., Gargano, G., Balestri, E., Sandri, F., Mescoli, G., Martinelli, Silvia, Ilardi, L., Ciarmoli, E., Di Fabio, S., Maranella, E., Grassia, C., Ausanio, G., Rossi, V., Motta, A., Tina, L. G., Maiolo, K., Nobile, Stefano, Messner, H., Staffler, Alex, Ferrero, F., Stasi, I., Pieragostini, L., Mondello, I., Haass, C., Consigli, C., Vedovato, S., Grison, A., Maffei, G., Presta, G., Perniola, R., Vitaliti, M., Re, M. P., De Curtis, M., Cardilli, V., Lago, P., Tormena, F., Orfeo, L., Gizzi, C., Massenzi, L., Gazzolo, D., Strozzi, M. C. M., Bottino, R., Pontiggia, F., Berardi, A., Guidotti, I., Cacace, C., Meli, V., Quartulli, L., Scorrano, A., Casati, A., Grappone, L., Pillow, J. J., Vento G. (ORCID:0000-0002-8132-5127), Pastorino R. (ORCID:0000-0001-5013-0733), Cota F. (ORCID:0000-0002-9009-3997), Tana M., Tirone C., Aurilia C., Lio A., D'Andrea V. (ORCID:0000-0002-0980-799X), Lucente M., Giordano L., Fusco F. P., Martinelli S., Nobile S. (ORCID:0000-0002-5304-1485), and Staffler A.

Abstract

N/A

Published
2021

18. Temporal lobe epilepsy surgery in children and adults: A multicenter study

Author

Barba, C., Cossu, M., Guerrini, R., Di Gennaro, G., Villani, F., De Palma, L., Grisotto, L., Consales, A., Battaglia, Domenica Immacolata, Zamponi, N., D'Orio, P., Revay, M., Rizzi, M., Casciato, S., Esposito, V., Quarato, P. P., Di Giacomo, R., Didato, G., Pastori, C., Pavia, G. C., Pellacani, S., Matta, G., Pacetti, M., Tamburrini, Gianpiero, Cesaroni, E., Colicchio, G., Vatti, G., Asioli, S., Caulo, M., Marras, C. E., Tassi, L., D'Aniello, Aleandra, Morace, R., De Curtis, M., Deleo, F., Giordano, F., De Benedictis, Anna, Prato, G., Perulli, Marco, Battaglia D. (ORCID:0000-0003-0491-4021), Tamburrini G. (ORCID:0000-0002-7139-5711), D'Aniello A., De Benedictis A., Perulli M., Barba, C., Cossu, M., Guerrini, R., Di Gennaro, G., Villani, F., De Palma, L., Grisotto, L., Consales, A., Battaglia, Domenica Immacolata, Zamponi, N., D'Orio, P., Revay, M., Rizzi, M., Casciato, S., Esposito, V., Quarato, P. P., Di Giacomo, R., Didato, G., Pastori, C., Pavia, G. C., Pellacani, S., Matta, G., Pacetti, M., Tamburrini, Gianpiero, Cesaroni, E., Colicchio, G., Vatti, G., Asioli, S., Caulo, M., Marras, C. E., Tassi, L., D'Aniello, Aleandra, Morace, R., De Curtis, M., Deleo, F., Giordano, F., De Benedictis, Anna, Prato, G., Perulli, Marco, Battaglia D. (ORCID:0000-0003-0491-4021), Tamburrini G. (ORCID:0000-0002-7139-5711), D'Aniello A., De Benedictis A., and Perulli M.

Abstract

Objective: To assess seizure and cognitive outcomes and their predictors in children (<16 years at surgery) and adults undergoing temporal lobe epilepsy (TLE) surgery in eight Italian centers. Methods: This is a retrospective multicenter study. We performed a descriptive analysis and subsequently carried out multivariable mixed-effect models corrected for multiple comparisons. Results: We analyzed data from 511 patients (114 children) and observed significant differences in several clinical features between adults and children. The possibility of achieving Engel class IA outcome and discontinuing antiepileptic drugs (AEDs) at last follow-up (FU) was significantly higher in children (P =.006 and <.0001). However, percentages of children and adults in Engel class I at last FU (mean ± SD, 45.9 ± 17 months in children; 45.9 ± 20.6 months in adults) did not differ significantly. We identified different predictors of seizure outcome in children vs adults and at short- vs long-term FU. The only variables consistently associated with class I outcome over time were postoperative electroencephalography (EEG) in adults (abnormal, improved,odds ratio [OR] = 0.414, P =.023, Q = 0.046 vs normal, at 2-year FU and abnormal, improved, OR = 0.301, P =.001, Q = 0.002 vs normal, at last FU) and the completeness of resection of temporal magnetic resonance (MR) abnormalities other than hippocampal sclerosis in children (OR = 7.93, P =.001, Q = 0.003, at 2-year FU and OR = 45.03, P <.0001, Q < 0.0001, at last FU). Cognitive outcome was best predicted by preoperative performances in either age group. Significance: Clinical differences between adult and pediatric patients undergoing TLE surgery are reflected in differences in long-term outcomes and predictors of failures. Children are more likely to achieve sustained seizure freedom and withdraw AEDs after TLE surgery. E

Published
2021

20. Caution advised regarding lung recruitment before surfactant – Authors’ reply

Author

Vento, Giovanni, primary, Ventura, M L, additional, Pastorino, R, additional, van Kaam, A H, additional, Carnielli, V, additional, Cools, F, additional, Dani, C, additional, Mosca, F, additional, Polglase, G, additional, Tagliabue, P, additional, Boni, L, additional, Cota, F, additional, Tana, M, additional, Tirone, C, additional, Aurilia, C, additional, Lio, A, additional, Cost, S, additional, D'Andrea, V, additional, Lucente, M, additional, Nigro, G, additional, Giordano, L, additional, Roma, V, additional, Villani, P, additional, Fusco, F P, additional, Fasolato, V, additional, Colnaghi, M R, additional, Matassa, P G, additional, Vendettuoli, V, additional, Poggi, C, additional, Del Vecchi, A, additional, Petrillo, F, additional, Betta, P, additional, Mattia, C, additional, Garani, G, additional, Solinas, A, additional, Gitto, E, additional, Salvo, V, additional, Gargano, G, additional, Balestri, E, additional, Sandri, F, additional, Mescoli, G, additional, Martinelli, S, additional, Ilardi, L, additional, Ciarmoli, E, additional, Di Fabio, S, additional, Maranella, E, additional, Grassia, C, additional, Ausanio, G, additional, Rossi, V, additional, Motta, A, additional, Tina, L G, additional, Maiolo, K, additional, Nobile, S, additional, Messner, H, additional, Staffler, A, additional, Ferrero, F, additional, Stasi, I, additional, Pieragostini, L, additional, Mondello, I, additional, Haass, C, additional, Consigli, C, additional, Vedovato, S, additional, Grison, A, additional, Maffei, G, additional, Presta, G, additional, Perniola, R, additional, Vitaliti, M, additional, Re, M P, additional, De Curtis, M, additional, Cardilli, V, additional, Lago, P, additional, Tormena, F, additional, Orfeo, L, additional, Gizzi, C, additional, Massenzi, L, additional, Gazzolo, D, additional, Strozzi, M C M, additional, Bottino, R, additional, Pontiggia, F, additional, Berardi, A, additional, Guidotti, I, additional, Cacace, C, additional, Meli, V, additional, Quartulli, L, additional, Scorrano, A, additional, Casati, A, additional, Grappone, L, additional, and Pillow, J J, additional

Published
2021
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40. Lung recruitment before surfactant administration in extremely preterm neonates with respiratory distress syndrome (IN-REC-SUR-E): a randomised, unblinded, controlled trial

Author

Vento, Giovanni, Ventura, M. L., Pastorino, Roberta, van Kaam, A. H., Carnielli, V., Cools, F., Dani, C., Mosca, F., Polglase, G., Tagliabue, P., Boni, L., Cota, Francesco, Tana, Milena, Tirone, Chiara, Aurilia, Claudia, Lio, Alessandra, Costa, Simonetta, D'Andrea, Vito, Lucente, M., Nigro, G., Giordano, Liliana, Roma, V., Villani, P. E., Fusco, Francesca Paola, Fasolato, V., Colnaghi, M. R., Matassa, P. G., Vendettuoli, V., Poggi, C., Del Vecchio, Arianna, Petrillo, F., Betta, P., Mattia, C., Garani, G., Solinas, A., Gitto, E., Salvo, V., Gargano, G., Balestri, E., Sandri, F., Mescoli, G., Martinelli, S., Ilardi, L., Ciarmoli, E., Di Fabio, S., Maranella, E., Grassia, C., Ausanio, G., Rossi, V., Motta, Alessandro, Tina, L. G., Maiolo, K., Nobile, Stefano, Messner, H., Staffler, Alex, Ferrero, Mattia Francesco, Stasi, I., Pieragostini, L., Mondello, I., Haass, C., Consigli, C., Vedovato, S., Grison, A., Maffei, G., Presta, G., Perniola, R., Vitaliti, M., Re, M. P., De Curtis, M., Cardilli, V., Lago, P., Tormena, F., Orfeo, L., Gizzi, C., Massenzi, L., Gazzolo, D., Strozzi, M. C. M., Bottino, R., Pontiggia, F., Berardi, A., Guidotti, I., Cacace, C., Meli, V., Quartulli, L., Scorrano, A., Casati, A., Grappone, L., Pillow, J. J., Vento G. (ORCID:0000-0002-8132-5127), Pastorino R. (ORCID:0000-0001-5013-0733), Cota F. (ORCID:0000-0002-9009-3997), Tana M., Tirone C., Aurilia C., Lio A., Costa S., D'Andrea V. (ORCID:0000-0002-0980-799X), Giordano L., Fusco F. P., Del Vecchio A., Motta A., Nobile S. (ORCID:0000-0002-5304-1485), Staffler A., Ferrero F., Vento, Giovanni, Ventura, M. L., Pastorino, Roberta, van Kaam, A. H., Carnielli, V., Cools, F., Dani, C., Mosca, F., Polglase, G., Tagliabue, P., Boni, L., Cota, Francesco, Tana, Milena, Tirone, Chiara, Aurilia, Claudia, Lio, Alessandra, Costa, Simonetta, D'Andrea, Vito, Lucente, M., Nigro, G., Giordano, Liliana, Roma, V., Villani, P. E., Fusco, Francesca Paola, Fasolato, V., Colnaghi, M. R., Matassa, P. G., Vendettuoli, V., Poggi, C., Del Vecchio, Arianna, Petrillo, F., Betta, P., Mattia, C., Garani, G., Solinas, A., Gitto, E., Salvo, V., Gargano, G., Balestri, E., Sandri, F., Mescoli, G., Martinelli, S., Ilardi, L., Ciarmoli, E., Di Fabio, S., Maranella, E., Grassia, C., Ausanio, G., Rossi, V., Motta, Alessandro, Tina, L. G., Maiolo, K., Nobile, Stefano, Messner, H., Staffler, Alex, Ferrero, Mattia Francesco, Stasi, I., Pieragostini, L., Mondello, I., Haass, C., Consigli, C., Vedovato, S., Grison, A., Maffei, G., Presta, G., Perniola, R., Vitaliti, M., Re, M. P., De Curtis, M., Cardilli, V., Lago, P., Tormena, F., Orfeo, L., Gizzi, C., Massenzi, L., Gazzolo, D., Strozzi, M. C. M., Bottino, R., Pontiggia, F., Berardi, A., Guidotti, I., Cacace, C., Meli, V., Quartulli, L., Scorrano, A., Casati, A., Grappone, L., Pillow, J. J., Vento G. (ORCID:0000-0002-8132-5127), Pastorino R. (ORCID:0000-0001-5013-0733), Cota F. (ORCID:0000-0002-9009-3997), Tana M., Tirone C., Aurilia C., Lio A., Costa S., D'Andrea V. (ORCID:0000-0002-0980-799X), Giordano L., Fusco F. P., Del Vecchio A., Motta A., Nobile S. (ORCID:0000-0002-5304-1485), Staffler A., and Ferrero F.

Abstract

Background: The importance of lung recruitment before surfactant administration has been shown in animal studies. Well designed trials in preterm infants are absent. We aimed to examine whether the application of a recruitment manoeuvre just before surfactant administration, followed by rapid extubation (intubate-recruit-surfactant-extubate [IN-REC-SUR-E]), decreased the need for mechanical ventilation during the first 72 h of life compared with no recruitment manoeuvre (ie, intubate-surfactant-extubate [IN-SUR-E]). Methods: We did a randomised, unblinded, controlled trial in 35 tertiary neonatal intensive care units in Italy. Spontaneously breathing extremely preterm neonates (24 + 0 to 27 + 6 weeks' gestation) reaching failure criteria for continuous positive airway pressure within the first 24 h of life were randomly assigned (1:1) with a minimisation algorithm to IN-REC-SUR-E or IN-SUR-E using an interactive web-based electronic system, stratified by clinical site and gestational age. The primary outcome was the need for mechanical ventilation in the first 72 h of life. Analyses were done in intention-to-treat and per-protocol populations, with a log-binomial regression model correcting for stratification factors to estimate adjusted relative risk (RR). This study is registered with ClinicalTrials.gov, NCT02482766. Findings: Of 556 infants assessed for eligibility, 218 infants were recruited from Nov 12, 2015, to Sept 23, 2018, and included in the intention-to-treat analysis. The requirement for mechanical ventilation during the first 72 h of life was reduced in the IN-REC-SUR-E group (43 [40%] of 107) compared with the IN-SUR-E group (60 [54%] of 111; adjusted RR 0·75, 95% CI 0·57–0·98; p=0·037), with a number needed to treat of 7·2 (95% CI 3·7–135·0). The addition of the recruitment manoeuvre did not adversely affect the safety outcomes of in-hospital mortality (19 [19%] of 101 in the IN-REC-SUR-E group vs 37 [33%] of 111 in the IN-SUR-E group), pneumothorax (

Published
2020

47. Contributors

Author

Albrecht, D., primary, Angeleri, F., additional, Arcelli, P., additional, Asanuma, C., additional, Avanzini, G., additional, Bal, T., additional, Battaglia, G., additional, Belardinelli, N., additional, Bentivoglio, M., additional, Bertini, G., additional, Burman, K., additional, Campbell, G., additional, Casas-Puig, R., additional, Chen, S., additional, Colacitti, C., additional, Contreras, D., additional, Crunelli, V., additional, Ralston, D. Daly, additional, Darian-Smith, C., additional, Darian-Smith, I., additional, Davidowa, H., additional, De Biasi, S., additional, DeBoom, T., additional, De Curtis, M., additional, Dell'Anna, M.E., additional, Diamond, I.T., additional, Diamond, M.E., additional, Fenelon, G., additional, Fitzpatrick, D., additional, Françis, C., additional, Frassoni, C., additional, Frost, S.B., additional, Futami, T., additional, Galea, M., additional, Gambetti, P., additional, Giannetti, S., additional, Granato, A., additional, Hendry, S.H.C., additional, Humphrey, A.L., additional, Ilinsky, I.A., additional, Jones, E.G., additional, Kakei, S., additional, Killackey, H.P., additional, Kultas-Ilinsky, K., additional, Leggio, M.G., additional, Leresche, N., additional, Lieberman, A.R., additional, Lizier, C., additional, Lugaresi, E., additional, Luppino, G., additional, Macchi, G., additional, Mancia, M., additional, Marini, G., additional, Masterton, R.B., additional, Matelli, M., additional, McCormick, D.A., additional, Meder, J.F., additional, Minciacchi, D., additional, Molinari, M., additional, Montagna, P., additional, Nolfe, G., additional, Peng, Z.-C., additional, Percheron, G., additional, Persson, H., additional, Pucci, E., additional, Quattrini, A., additional, Ralston, H.J., additional, Rausell, E., additional, Regondi, M.C., additional, Reinoso-Suarez, F., additional, Ringstedt, T., additional, Rustioni, A., additional, Salt, T.E., additional, Santarelli, M., additional, Saul, A.B., additional, Sbriccoli, A., additional, Sherman, S.M., additional, Shinoda, Y., additional, Signorino, M., additional, Soltesz, I., additional, Spreafico, R., additional, Steriade, M., additional, Sugiuchi, Y., additional, Talbi, B., additional, Tippayatorn, N., additional, Toga, A.W., additional, Toth, T.I., additional, Turner, J., additional, Usrey, W.M., additional, Vaudano, E., additional, Velayos, J.L., additional, von Krosigk, M., additional, Wannier, T., additional, Yelnik, J., additional, and Zippel, U., additional

Published
1993
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49. Strategies for preventing group B streptococcal infections in newborns: A nation-wide survey of Italian policies

Author

Tzialla, C, berardi, A, farina, C, clerici, P, borghesi, A, viora, E, scollo, P, stronati, M, Task Force for group B streptococcal infections for the Italian Society of Neonatology including Stival, G, barbaglia, Ma, guala, A, giunta, E, parola, L, grossignani, Mr, perri, P, tubaldi, L, alletto, G, daidone, S, flacco, V, dani, C, sterpa, A, rapisardi, G, elicio, Mr, faldella, G, capretti, Mg, messner, H, bandiera, M, achille, C, azzali, A, montrasio, G, mariani, S, galvagno, G, giacosa, E, de Angelis, F, spandrio, M, serra, A, garofalo, F, perona, A, porcelli, F, ferrero, F, De Franco, S, paollilo, P, picone, S, besana, R, varisco, T, farina, M, memo, L, nicolini, G, lietti, D, Di Chiara, G, rottoli, A, Bonabitacola, T, Cortis, E, Neri, E, Martinelli, S, Ilardi, L, Rondanini, Gf, Calzi, P, Gatta, A, Quntadamo, Pa, Ivaldi, M, Terenzani, L, Di Lascio, N, Travaglio, Md, Vetrano, G, Furcolo, G, Vitacco, V, Intini, C, Frigerio, M, Stroppiana, P, Policicchio, G, Mesirca, P, Gianino, P, Audenio, E, Paludetto, R, Raimondi, F, Pugliese, A, Valentino, L, Nosari, N, Marchesano, G, Chirico, G, Bellù, R, Menchini, M, Poletti, A, E T, Vacchiano, Pinto, L, E D, Perri, Coppola, R, Perini, R, Vetrella, A, De Luca, G, Lista, G, Cavigioli, F, Bettinelli, A, Massironi, E, Franco, C, Bernardo, L, Poli, S, Palladini, M, Tota, V, Spadavecchia, F, Zuccotti, Gv, Pogliani, L, Bracaglia, G, Mancini, Al, Zocco, F, Iozzia, G, Auriemma, A, Teani, M, Mangilli, G, Tempra, Am, Di Terlizi, L, Bottino, R, Salvi, C, Fortunato, V, Musaico, R, Gargantini, G, Carrera, G, Magaldi, R, Taurino, L, D'Onofrio, Am, Buffone, E, Tempera, A, Agosti, M, Garzia, P, Mosca, F, Pugni, L, Tagliabue, P, Colombo, C, Demi, M, Picco, G, Carlucci, A, Zorzi, G, Padula, D, Cardone, Ml, Buonocore, G, Muraca, Mc, Boldrini, A, Ciantelli, M, Lanari, M, Serra, L, Felici, L, Banderalli, G, Brambilla, C, Dall'Agnola, A, Viviani, E, Zonca, Mc, Licardi, G, Chiara, A, Ancora, G, Papa, I, Gancia, P, Pomero, G, Deloglu, A, Villani, P, Mussini, P, Canidio, E, Migliavacca, D, Di Fabio, S, Cipollone, I, Biasucci, G, Rubbi, P, Piepoli, M, Guastaferro, N, Infriccioli, F, Bertino, E, Perathoner, C, Parmigiani, S, Suriano, G, Ianniello, C, Biasini, A, Azzalli, M, Timpani, G, Barresi, S, Caoci, G, Ciccotti, R, De Curtis, M, Natale, F, Finocchi, M, Haass, C, Milillo, F, Lucieri, S, Guercio, E, Canepa, Sa, Scozia, G, Antonucci, R, Limongelli, O, Macciò, S, Mongelli, F, Colonna, F, Dragovic, D, Calipa, Mt, Cohen, A, Moresco, L, Italian Society of Obstetricians and Gynecologists including La Spina, R, Ruggeri, R, Luehwink, A, Brattoli, M, Fedi, A, Lacchi, L, Ettore, G, Pappalardo, E, Conoscenti, G, Zeni, B, Spellecchia, D, Favretti, L, Spagna, L, Zaglio, S, Bresciani, D, Bandini, A, Mancini, R, Mustoni, P, Dodero, D, Grimaldi, M, Di Mario, M, Migliorini, P, Kemeny, A, Anastasio, Ps, Riccardi, T, Maggino, T, Cerri, G, Puggina, P, Marconi, Am, Morgia, S, Bellia, G, D'Anna, Mr, Catania, M, Bacchi Modena, A, Franchi, L, Calonaci, N, Schettini, S, Paradiso, R, Saccucci, P, Ioppi, M, Zorzi, M, Stellin, G, Patacchiola, F, Carrata, L, Bassini, D, San Marco, L, Todros, T, Tibadi, C, Liborio, M, Italian Association of Clinical Microbiologists including Laricchia, R, Tauro, L, Ferrara, F, Nuara, C, Ghiraldi, E, Molinari, F, Comessatti, A, Rocchetti, A, Di Matteo, L, Miconi, V, Calvi, P, Pernigotti, A, Fabozzi, F, Micca, G, Monticone, G, Sarti, M, Da Rin, G, Zoppelletto, M, Modolo, E, Landini, Mp, Furlini, G, Galluppi, E, Pagani, E, Aschbacher, R, Innocenti, P, Bresolin, N, Raggi, Me, Bonfanti, C, De Francesco, M, Santer, P, Griessmaier, A, De Francesco, D, Pirali, A, Prasciolu, C, Usai, F, Cuzzone, G, Scutellà, M, Tramacere, P, Fossati, D, Piaserico, G, Bordignon, G, Sciacca, A, Di Vincenzo, F, Imbriani, A, Melotti, D, Catanoso, G, Rivetti, I, Neri, G, Bruno, R, Bacelle, L, Sartore, P, Giana, G, Sala, E, Giraldi, C, Cavalcanti, P, Perugini, M, Perugini, A, Ginardi, C, Maritano, D, Ferrini, A, Bonettini, A, Avanzini, A, Gasperoni, S, Pieretti, B, Montanari, E, Carillo, C, Rossi, Mr, Laureti, A, Baldoni, Ml, Serra, D, Melioli, G, Bandettini, R, Oneto, F, Colla, R, Storchi Incerti, S, Lanzini, F, Pauri, P, Tili, E, Leone, Ra, Verdastro, G, Megha, M, Luzzaro, F, Conti, A, Busulini, L, Mirri, P, Diodati, R, Vettori, C, Pittalis, S, Anesi, A, Fiore, A, Goglia, L, Vitullo, E, Sinno, A, Platzgummer, S, Spitaler, C, Trabucchi, Mc, Besozzi, M, Cesana, E, Inghilleri, G, Grosso, S, D'Angelo, R, Fogato, E, Lavarda, F, Ortisi, G, Clementi, M, Cichero, P, Rumpianesi, F, Venturelli, C, Mortillaro, F, Daffara, S, Catania, Mr, Iula, D, Andreoni, S, Politi, A, Agostinelli, C, Paparella, C, Capozzi, D, Notaris, P, Bistoni, F, Mencacci, A, Valentini, M, Filippetti, A, Confalonieri, M, Novarese, O, Bonini, F, Salamone, D, Camporese, A, De Rosa, R, Casprini, P, Degl'Innocenti, R, Giordano, R, Allù, Mt, Zanella, D, Malandrino, M, Tronci, M, Valmarin, M, Leonetti, G, Falco, S, Meledandri, M, Ballardini, M, Spanò, A, Cava, Mc, Mascellino, Mt, Schinella, M, Gualdi, P, Casari, E, Scattolo, N, Motta, C, Perfetti, C, Bassano, M, Cera, G, Iafisco, P, Mura, I, Palmieri, A, Migliardi, M, Ferlini, M, Grandi, G, Giardini, F, Albano, F, Latino, M, Ferrero, Mp, Bellizia, L, Russolo, M, Russolo, S, Pesenti, A, Fasano, Ma, Previato, S, Radillo, O, Busetti, M, Ferrari, P, Siderini, V, Puzzolante, L, Scarparo, C, Arzese, A, Cappuccia, N, Lodolo, L, Delledonne, L, Gramoni, A, Maiolo, V, Gheller, A, Spadaro, S, Balzaretti, M, Tzialla, C., Berardi, A., Farina, C., Clerici, P., Borghesi, A., Viora, E., Scollo, P., Stronati, M., Stival, G., Barbaglia, M. A., Guala, A., Giunta, E., Parola, L., Grossignani, M. R., Perri, P., Tubaldi, L., Alletto, G., Daidone, S., Flacco, V., Dani, C., Sterpa, A., Rapisardi, G., Elicio, M. R., Faldella, G., Capretti, M. G., Messner, H., Bandiera, M., Achille, C., Azzali, A., Montrasio, G., Mariani, S., Galvagno, G., Giacosa, E., de Angelis, F., Spandrio, M., Serra, A., Garofalo, F., Perona, A., Porcelli, F., Ferrero, F., De Franco, S., Paollilo, P., Picone, S., Besana, R., Varisco, T., Farina, M., Memo, L., Nicolini, G., Lietti, D., Di Chiara, G., Rottoli, A., Bonabitacola, T., Cortis, E., Neri, E., Martinelli, S., Ilardi, L., Rondanini, G. F., Calzi, P., Gatta, A., Quntadamo, P. A., Ivaldi, M., Terenzani, L., Di Lascio, N., Travaglio, M. D., Vetrano, G., Furcolo, G., Vitacco, V., Intini, C., Frigerio, M., Stroppiana, P., Policicchio, G., Mesirca, P., Gianino, P., Audenio, E., Paludetto, R., Raimondi, F., Pugliese, A., Valentino, L., Nosari, N., Marchesano, G., Chirico, G., Bell(`u), R., Menchini, M., Poletti, A., Vacchiano, T., Pinto, L., Perri, D., Coppola, R., Perini, R., Vetrella, A., De Luca, G., Lista, G., Cavigioli, F., Bettinelli, A., Massironi, E., Franco, C., Bernardo, L., Poli, S., Palladini, M., Tota, V., Spadavecchia, F., Zuccotti, G. V., Pogliani, L., Bracaglia, G., Mancini, A. L., Zocco, F., Iozzia, G., Auriemma, A., Teani, M., Mangilli, G., Tempra, A. M., Di Terlizi, L., Bottino, R., Salvi, C., Fortunato, V., Musaico, R., Gargantini, G., Carrera, G., Magaldi, R., Taurino, L., D?onofrio, A. M., Buffone, E., Tempera, A., Agosti, M., Garzia, P., Mosca, F., Pugni, L., Tagliabue, P., Colombo, C., Demi, M., Picco, G., Carlucci, A., Zorzi, G., Padula, D., Cardone, M. L., Buonocore, G., Muraca, M. C., Boldrini, A., Ciantelli, M., Lanari, M., Serra, L., Felici, L., Banderalli, G., Brambilla, C., Dall?agnola, A., Viviani, E., Zonca, M. C., Licardi, G., Chiara, A., Ancora, G., Papa, I., Gancia, P., Pomero, G., Deloglu, A., Villani, P., Mussini, P., Canidio, E., Migliavacca, D., Di Fabio, S., Cipollone, I., Biasucci, G., Rubbi, P., Piepoli, M., Guastaferro, N., Infriccioli, F., Bertino, E., Perathoner, C., Parmigiani, S., Suriano, G., Ianniello, C., Biasini, A., Azzalli, M., Timpani, G., Barresi, S., Caoci, G., Ciccotti, R., De Curtis, M., Natale, F., Finocchi, M., Haass, C., Milillo, F., Lucieri, S., Guercio, E., Canepa, S. A., Scozia, G., Antonucci, R., Limongelli, O., Macci(`o), S., Mongelli, F., Colonna, F., Dragovic, D., Calipa, M. T., Cohen, A., Moresco, L., La Spina, R., Ruggeri, R., Luehwink, A., Brattoli, M., Fedi, A., Lacchi, L., Ettore, G., Pappalardo, E., Conoscenti, G., Zeni, B., Spellecchia, D., Favretti, L., Spagna, L., Zaglio, S., Bresciani, D., Bandini, A., Mancini, R., Mustoni, P., Dodero, D., Grimaldi, M., Di Mario, M., Migliorini, P., Kemeny, A., Anastasio, P. S., Riccardi, T., Maggino, T., Cerri, G., Puggina, P., Marconi, A. M., Morgia, S., Bellia, G., D?anna, M. R., Catania, M., Bacchi Modena, A., Franchi, L., Calonaci, N., Schettini, S., Paradiso, R., Saccucci, P., Ioppi, M., Zorzi, M., Stellin, G., Patacchiola, F., Carrata, L., Bassini, D., San Marco, L., Todros, T., Tibadi, C., Liborio, M., Laricchia, R., Tauro, L., Ferrara, F., Nuara, C., Ghiraldi, E., Molinari, F., Comessatti, A., Rocchetti, A., Di Matteo, L., Miconi, V., Calvi, P., Pernigotti, A., Fabozzi, F., Micca, G., Monticone, G., Sarti, M., Da Rin, G., Zoppelletto, M., Modolo, E., Landini, M. P., Furlini, G., Galluppi, E., Pagani, E., Aschbacher, R., Innocenti, P., Bresolin, N., Raggi, M. E., Bonfanti, C., De Francesco, M., Santer, P., Griessmaier, A., De Francesco, D., Pirali, A., Prasciolu, C., Usai, F., Cuzzone, G., Scutell(`a), M., Tramacere, P., Fossati, D., Piaserico, G., Bordignon, G., Sciacca, A., Di Vincenzo, F., Imbriani, A., Melotti, D., Catanoso, G., Rivetti, I., Neri, G., Bruno, R., Bacelle, L., Sartore, P., Giana, G., Sala, E., Giraldi, C., Cavalcanti, P., Perugini, M., Perugini, A., Ginardi, C., Maritano, D., Ferrini, A., Bonettini, A., Avanzini, A., Gasperoni, S., Pieretti, B., Montanari, E., Carillo, C., Rossi, M. R., Laureti, A., Baldoni, M. L., Serra, D., Melioli, G., Bandettini, R., Oneto, F., Colla, R., Storchi Incerti, S., Lanzini, F., Pauri, P., Tili, E., Leone, R. A., Verdastro, G., Megha, M., Luzzaro, F., Conti, A., Busulini, L., Mirri, P., Diodati, R., Vettori, C., Pittalis, S., Anesi, A., Fiore, A., Goglia, L., Vitullo, E., Sinno, A., Platzgummer, S., Spitaler, C., Trabucchi, M. C., Besozzi, M., Cesana, E., Inghilleri, G., Grosso, S., D?angelo, R., Fogato, E., Lavarda, F., Ortisi, G., Clementi, M., Cichero, P., Rumpianesi, F., Venturelli, C., Mortillaro, F., Daffara, S., Catania, M. R., Iula, D., Andreoni, S., Politi, A., Agostinelli, C., Paparella, C., Capozzi, D., Notaris, P., Bistoni, F., Mencacci, A., Valentini, M., Filippetti, A., Confalonieri, M., Novarese, O., Bonini, F., Salamone, D., Camporese, A., De Rosa, R., Casprini, P., Degl?innocenti, R., Giordano, R., All(`u), M. T., Zanella, D., Malandrino, M., Tronci, M., Valmarin, M., Leonetti, G., Falco, S., Meledandri, M., Ballardini, M., Span(`o), A., Cava, M. C., Mascellino, M. T., Schinella, M., Gualdi, P., Casari, E., Scattolo, N., Motta, C., Perfetti, C., Bassano, M., Cera, G., Iafisco, P., Mura, I., Palmieri, A., Migliardi, M., Ferlini, M., Grandi, G., Giardini, F., Albano, F., Latino, M., Ferrero, M. P., Bellizia, L., Russolo, M., Russolo, S., Pesenti, A., Fasano, M. A., Previato, S., Radillo, O., Busetti, M., Ferrari, P., Siderini, V., Puzzolante, L., Scarparo, C., Arzese, A., Cappuccia, N., Lodolo, L., Delledonne, L., Gramoni, A., Maiolo, V., Gheller, A., Spadaro, S., Balzaretti, M., Tzialla, Chryssoula, Berardi, Alberto, Farina, Claudio, Clerici, Pierangelo, Borghesi, Alessandro, Viora, Elsa, Scollo, Paolo, Stronati, Mauro, [.., Lanari, Marcello, Faldella, Giacomo, and ]

Subjects
Male, Pediatrics, Group B, 0302 clinical medicine, Neonate, Pregnancy, Surveys and Questionnaires, Prevalence, Mass Screening, Blood culture, 030212 general & internal medicine, Antibiotic prophylaxis, Survey, GBS, Group B streptococcus, Infection, Newborn infant, Adult, Antibiotic Prophylaxis, Female, Health Surveys, Humans, Infant, Newborn, Italy, Neonatal Screening, Pregnancy Complications, Infectious, Prenatal Care, Primary Prevention, Risk Assessment, Streptococcal Infections, Streptococcus agalactiae, reproductive and urinary physiology, Group B streptococcu, medicine.diagnostic_test, lcsh:RJ1-570, Infectious, Perinatology and Child Health, Pediatrics, Perinatology and Child Health, medicine.medical_specialty, Antibiotic sensitivity, Group B Streptococcal Infection, Prenatal care, 03 medical and health sciences, 030225 pediatrics, medicine, Intensive care medicine, Mass screening, business.industry, Public health, Infant, lcsh:Pediatrics, Newborn, Pregnancy Complications, business
Abstract

Background There are no Italian data regarding the strategies for preventing neonatal group B streptococcal (GBS) infection. We conducted a national survey in order to explore obstetrical, neonatal and microbiological practices for the GBS prevention. Methods Three distinct questionnaires were sent to obstetricians, neonatologists and microbiologists. Questionnaires included data on prenatal GBS screening, maternal risk factors, intrapartum antibiotic prophylaxis, microbiological information concerning specimen processing and GBS antimicrobial susceptibility. Results All respondent obstetrical units used the culture-based screening approach to identify women who should receive intrapartum antibiotic prophylaxis, and more than half of the microbiological laboratories (58%) reported using specimen processing consistent with CDC guidelines. Most neonatal units (89 out of 107, 82%) reported using protocols for preventing GBS early-onset sepsis consistent with CDC guidelines. Conclusions The screening-based strategy is largely prevalent in Italy, and most protocols for preventing GBS early-onset sepsis are consistent with CDC guidelines. However, we found discrepancies in practices among centers that may reflect the lack of Italian guidelines issued by public health organizations.

Published
2017

50. Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

Author

Borghesi, A, Mencarelli, Ma, Memo, L, Ferrero, Gb, Bartuli, A, Genuardi, M, Stronati, M, Villani, A, Renieri, A, Corsello, G, Their Respective Scientific Societies, Agostiniani, R, Staiano, A, Del Vecchio, A, Banderali, G, Peroni, D, Piazzolla, R, Turra, R, Bozzola, E, Vecchio, D, Rosati, Gv, Macrì, F, Romagnoli, C, De Curtis, M, Orfeo, L, Mangili, G, Mosca, F, Fanos, V, Paolillo, P, Raimondi, F, Rizzo, A, Chirico, G, Corvaglia, Lt, Cacace, Concetta, Poggiani, C, Zuppa, Aa, Pisano, D, Melis, D, Giuffrè, M, Carbone, Mt, Macchiaiolo, M, Tarani, L, Selicorni, A, Andria, G, Coviello, D, Gentile, M, Ghiorzo, P, Novelli, A, Ragusa, A, Scarano, G, Giardino, D., Borghesi A, Mencarelli MA, Memo L, Ferrero GB, Bartuli A, Genuardi M, Stronati M, Villani A, Renieri A, Corsello G, Borghesi, Alessandro, Mencarelli, Maria Antonietta, Memo, Luigi, Ferrero, Giovanni Battista, Bartuli, Andrea, Genuardi, Maurizio, Stronati, Mauro, Villani, Alberto, Renieri, Alessandra, Corsello, Giovanni, and Agostiniani R, Staiano A, Del Vecchio A, Banderali G, Peroni D, Piazzolla R, Turra R, Bozzola E, Vecchio D, Rosati GV, Macrì F, Romagnoli C, De Curtis M, Orfeo L, Mangili G, Mosca F, Fanos V, Paolillo P, Raimondi F, Rizzo A, Chirico G, Corvaglia LT, Cacace C, Poggiani C, Zuppa AA, Pisano D, Melis D, Giuffrè M, Carbone MT, Macchiaiolo M, Tarani L, Selicorni A, Andria G, Coviello D, Gentile M, Ghiorzo P, Novelli A, Ragusa A, Scarano G, Giardino D.

Subjects
0301 basic medicine, Male, Neonatal intensive care unit, Disease, Review, 030105 genetics & heredity, Pediatrics, Whole Exome Sequencing, Neonate, Neonatal, Outcome Assessment, Health Care, Diagnosis, Policy Making, Exome sequencing, Sanger sequencing, Genome, lcsh:RJ1-570, Perinatology and Child Health, Settore MED/38, Intensive Care Units, Italy, Whole-exome sequencing, Practice Guidelines as Topic, symbols, WES, Female, Human, Diagnosi, NICU, medicine.medical_specialty, Mendelian, 03 medical and health sciences, symbols.namesake, Outcome Assessment (Health Care), Neonatal Screening, Genetic, Intensive Care Units, Neonatal, Exome Sequencing, medicine, WGS, Pediatrics, Perinatology and Child Health, Humans, Genetic Testing, Intensive care medicine, Settore MED/06 - ONCOLOGIA MEDICA, Genetic heterogeneity, Critically ill, business.industry, Genome, Human, Infant, Newborn, Infant, lcsh:Pediatrics, Newborn, Infant newborn, 030104 developmental biology, Differential diagnosis, business
Abstract

The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, especially in the setting of critical clinical conditions. The differential diagnosis process in the neonatal intensive care unit (NICU) may be time-consuming, uncomfortable for the patient due to repeated sampling, and ineffective in reaching a molecular diagnosis during NICU stay. Serial gene sequencing (Sanger sequencing) may be successful only for conditions for which the clinical phenotype strongly suggests a diagnostic hypothesis and for genetically homogeneous diseases. Newborn screenings with Guthrie cards, which vary from country to country, are designed to only test for a few dozen genetic diseases out of the more than 6000 diseases for which a genetic characterization is available. The use of WES in selected cases in the NICU may overcome these issues. We present an intersociety document that aims to define the best indications for the use of WES in different clinical scenarios in the NICU. We propose that WES is used in the NICU for critically ill newborn infants when an early diagnosis is desirable to guide the clinical management during NICU stay, when a strong hypothesis cannot be formulated based on the clinical phenotype or the disease is genetically heterogeneous, and when specific non-genetic laboratory tests are not available. The use of WES may reduce the time for diagnosis in infants during NICU stay and may eventually result in cost-effectiveness.

Published
2017

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