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8. L‐DOPA Test in the Diagnosis of Childhood Short Stature: Evaluation of Growth Hormone Peaks Over Time.

Author

Castelli, Barbara, De Santis, Rita, Carrera, Simona, Malanima, Marco Andrea, De Masi, Salvatore, and Stagi, Stefano

Subjects
SOMATOTROPIN, SHORT stature, GROWTH of children, RECEIVER operating characteristic curves, CLASSIFICATION, PITUITARY dwarfism
Abstract

Introduction: In childhood, growth hormone (GH) deficiency (GHD) diagnosis is based on auxological assessment and biochemical provocative tests, whose reliability remains disputed. Recently, several papers have been published on standardising the duration of some tests. The aim of our study was to analyse the possible length reduction of the L‐DOPA provocative test. Methods: We retrospectively investigated the response of GH to L‐DOPA in 256 children, analysing 267 tests (some patients were retested over time for the persistence of severe auxopathy). We studied the same data considering GH peak threshold both at 8 ng/mL (Italian GHD cut‐off) and at 10 ng/mL (international cut‐off). Based on stimulation tests, patients were divided into two groups: GHD and no‐GHD short children. We described the results in the whole population and then clustering for gender and pubertal stage. We termed as index the test stopped at 90 min. Results: The GH peak after L‐DOPA mostly occurred at 60 min. The sensitivity of the index test was the highest, while the specificity was slightly higher using the 8 ng/mL threshold (specificity = 0.68; 95% CI 0.60–0.76) then using the 10 ng/mL threshold (specificity = 0.56; 95% CI 0.47–0.65) at 90 min. The two ROC curves showed moderate performance of the test at 90 min. While the negative predictive value was 100% in both tests, the positive predictive value was slightly better with 10 ng/mL cut‐off. Considering the two groups established by GHD definition and placing a GH threshold at 10 ng/mL, stopping L‐DOPA test time at 90 min would have changed the test result and subsequentially patient's classification in 3/267 of the analysed tests (1.1%), while with the Italian GH threshold value at 8 ng/mL in 7/267 of the tests (2.6%). Conclusions: Our research shows that omitting 120‐min time reduces L‐DOPA test specificity, especially with GHD cut‐off at 10 ng/mL. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Ergonomics in Hospital: Prevention of Interruptions and Safety in Drug Administration

Author

Frangioni, Gabriele, Biermann, Klaus P., Caposciutti, Barbara, De Masi, Salvatore, Di Pede, Mario, Prunecchi, Silvia, Savelli, Angela, Kacprzyk, Janusz, Series Editor, Pal, Nikhil R., Advisory Editor, Bello Perez, Rafael, Advisory Editor, Corchado, Emilio S., Advisory Editor, Hagras, Hani, Advisory Editor, Kóczy, László T., Advisory Editor, Kreinovich, Vladik, Advisory Editor, Lin, Chin-Teng, Advisory Editor, Lu, Jie, Advisory Editor, Melin, Patricia, Advisory Editor, Nedjah, Nadia, Advisory Editor, Nguyen, Ngoc Thanh, Advisory Editor, Wang, Jun, Advisory Editor, Bagnara, Sebastiano, editor, Tartaglia, Riccardo, editor, Albolino, Sara, editor, Alexander, Thomas, editor, and Fujita, Yushi, editor

Published
2019
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16. Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study

Author

Barba, Carmen, Specchio, Nicola, Guerrini, Renzo, Tassi, Laura, De Masi, Salvatore, Cardinale, Francesco, Pellacani, Simona, De Palma, Luca, Battaglia, Domenica, Tamburrini, Gianpiero, Didato, Giuseppe, Freri, Elena, Consales, Alessandro, Nozza, Paolo, Zamponi, Nelia, Cesaroni, Elisabetta, Di Gennaro, Giancarlo, Esposito, Vincenzo, Giulioni, Marco, Tinuper, Paolo, Colicchio, Gabriella, Rocchi, Raffaele, Rubboli, Guido, Giordano, Flavio, Lo Russo, Giorgio, Marras, Carlo Efisio, and Cossu, Massimo

Published
2017
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19. A registry for Dravet syndrome: The Italian experience

Author

Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica Immacolata, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo, Battaglia, Domenica (ORCID:0000-0003-0491-4021), Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica Immacolata, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo, and Battaglia, Domenica (ORCID:0000-0003-0491-4021)

Abstract

ObjectivesWe describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality. MethodsStandardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis. Patients were prospectively enrolled, at registry starting, but historical retrospective data were also included. ResultsAt present, 281 individuals with DS and a confirmed SCN1A mutation are included. Most patients have data available on epilepsy (n = 263) and their overall neurological condition (n = 255), based on at least one follow-up update. Median age at first clinical assessment was 2 years (IQR 0-9) while at last follow-up was 11 years (IQR 5-18.5). During the 7-year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000-person-years. When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P < 0.001), an increased prevalence of behavioral disorders including attention deficit (P < 0.001), a significant worsening of language (P = 0.001), and intellectual disability (P < 0.001). SignificanceThe Residras registry represents a large collection of standardized national data for the DS population. The registry platform relies on a shareable and interoperable framework, which promotes multicenter high-quality data collection. In the future, such integrated platform may represent an invaluable asset for easing access to cohorts of patients that may benefit from clinical trials with emerging novel therapies, for drug safety monitoring, and for delineating natural history. Its

Published
2023

23. Single-Day Trimethoprim/Sulfamethoxazole Prophylaxis for Pneumocystis Pneumonia in Children with Cancer

Author

Caselli, Désirée, Petris, Maria Grazia, Rondelli, Roberto, Carraro, Francesca, Colombini, Antonella, Muggeo, Paola, Ziino, Ottavio, Melchionda, Fraia, Russo, Giovanna, Pierani, Paolo, Soncini, Elena, DeSantis, Raffaella, Zanazzo, Giulio, Barone, Angelica, Cesaro, Simone, Cellini, Monica, Mura, Rossella, Milano, Giuseppe M., Meazza, Cristina, Cicalese, Maria P., Tropia, Serena, De Masi, Salvatore, Castagnola, Elio, and Aricò, Maurizio

Published
2014
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25. Optical Coherence Tomography Significance in Managing Early Onset of Optic Pathway Gliomas in Children Younger than 5 Years of Age—A Retrospective Study

Author

Pavone, Rossana, primary, Fonte, Carla, additional, Sardi, Iacopo, additional, Caputo, Roberto, additional, Marziali, Elisa, additional, Mazzeo, Fabio, additional, Secci, Jacopo, additional, Bergamini, Alessia, additional, De Masi, Salvatore, additional, Leo, Maria Carmela, additional, Censullo, Maria Luigia, additional, and Bacci, Giacomo Maria, additional

Published
2022
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26. Seizure Outcome of Temporal Lobe Epilepsy Surgery in Adults and Children: A Systematic Review and Meta-Analysis

Author

Barba, Carmen, primary, Giometto, Sabrina, additional, Lucenteforte, Ersilia, additional, Pellacani, Simona, additional, Matta, Giulia, additional, Bettiol, Alessandra, additional, Minghetti, Sara, additional, Falorni, Lavinia, additional, Melani, Federico, additional, Di Giacomo, Gianpiero, additional, Giordano, Flavio, additional, De Masi, Salvatore, additional, and Guerrini, Renzo, additional

Published
2022
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31. Fetal programming and systemic sclerosis

Author

Donzelli, Gianpaolo, Carnesecchi, Giulia, Amador, Carolina, di Tommaso, Mariarosaria, Filippi, Luca, Caporali, Roberto, Codullo, Veronica, Riccieri, Valeria, Valesini, Guido, Gabrielli, Armando, Bagnati, Roberta, McGreevy, Kathleen S., De Masi, Salvatore, and Cerinic, Marco Matucci

Published
2015
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32. The management of pediatric severe traumatic brain injury: Italian guidelines

Author

Bussolin, L., Falconi, M., Leo, M. C., Parri, N., De Masi, Salvatore, Rosati, A., Cecchi, C., Spacca, B., Grandoni, M., Bettiol, A., Lucenteforte, E., Lubrano, R., Falsaperla, R., Melosi, F., Agostiniani, R., Mangiantini, F., Talamonti, G., Calderini, E., Mancino, Aldo, De Luca, Marianna, Conti, Giorgio, Petrini, F., Angileri, S., Baldazzi, M., Bertuetti, R., Biermann, K. P., Bigagli, E., Carai, A., Coniglio, C., Conio, A., Crescioli, M., D'Amato, L., Grassi, A., Iaccarino, C., Macchiarini, A., Magnoni, S., Masotti, A., Meneghini, L., Minardi, C., Moscatelli, A., Pedretti, Marisa, Piazza, S., Picardo, S. G., Pittalis, A., Pizzi, S., Pompucci, Angelo, Pugi, A., Rizzo, G., Sagredini, R., Silipo, R., Stoppa, F., and Tuccinardi, G.

Subjects
Adult, medicine.medical_specialty, Traumatic brain injury, MEDLINE, Guideline, Brain injuries, Pediatrics, Brain injuries, traumatic, Glasgow coma scale, Child, Humans, Italy, Brain Injuries, Traumatic, Language, 03 medical and health sciences, 0302 clinical medicine, traumatic, 030202 anesthesiology, Multidisciplinary approach, Medicine, Guideline development, business.industry, 030208 emergency & critical care medicine, medicine.disease, Quality of evidence, Anesthesiology and Pain Medicine, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Family medicine, business, Inclusion (education), Evidence synthesis
Abstract

Introduction The aim of the work was to update the "Guidelines for the Management of Severe Traumatic Brain Injury" published in 2012, to reflect the new available evidence, and develop the Italian national guideline for the management of severe pediatric head injuries to reduce variation in practice and ensure optimal care to patients. Evidence acquisition MEDLINE and EMBASE were searched from January 2009 to October 2017. Inclusion criteria were English language, pediatric populations (0-18 years) or mixed populations (pediatric/adult) with available age subgroup analyses. The guideline development process was started by the Promoting Group that composed a multidisciplinary panel of experts, with the representatives of the Scientific Societies, the independent expert specialists and a representative of the Patient Associations. The panel selected the clinical questions, discussed the evidence and formulated the text of the recommendations. The documentarists of the University of Florence oversaw the bibliographic research strategy. A group of literature reviewers evaluated the selected literature and compiled the table of evidence for each clinical question. Evidence synthesis The search strategies identified 4254 articles. We selected 3227 abstract (first screening) and, finally included 67 articles (second screening) to update the guideline. This Italian update includes 25 evidence-based recommendations and 5 research recommendations. Conclusions In recent years, progress has been made on the understanding of severe pediatric brain injury, as well as on that concerning all major traumatic pathology. This has led to a progressive improvement in the clinical outcome, although the quantity and quality of evidence remains particularly low.

Published
2021

33. Laparoscopic approach to acute abdomen from the Consensus Development Conference of the Società Italiana di Chirurgia Endoscopica e nuove tecnologie (SICE), Associazione Chirurghi Ospedalieri Italiani (ACOI), Società Italiana di Chirurgia (SIC), Società Italiana di Chirurgia d’Urgenza e del Trauma (SICUT), Società Italiana di Chirurgia nell’Ospedalità Privata (SICOP), and the European Association for Endoscopic Surgery (EAES)

Author

Agresta, Ferdinando, Ansaloni, Luca, Baiocchi, Gian Luca, Bergamini, Carlo, Campanile, Fabio Cesare, Carlucci, Michele, Cocorullo, Giafranco, Corradi, Alessio, Franzato, Boris, Lupo, Massimo, Mandalà, Vincenzo, Mirabella, Antonino, Pernazza, Graziano, Piccoli, Micaela, Staudacher, Carlo, Vettoretto, Nereo, Zago, Mauro, Lettieri, Emanuele, Levati, Anna, Pietrini, Domenico, Scaglione, Mariano, De Masi, Salvatore, De Placido, Giuseppe, Francucci, Marsilio, Rasi, Monica, Fingerhut, Abe, Uranüs, Selman, and Garattini, Silvio

Published
2012
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35. Anti-Tumor Necrosis Factor-Alpha Withdrawal in Children With Inflammatory Bowel Disease in Endoscopic and Histologic Remission

Author

Scarallo, Luca, primary, Bolasco, Giulia, additional, Barp, Jacopo, additional, Bianconi, Martina, additional, di Paola, Monica, additional, Di Toma, Michele, additional, Naldini, Sara, additional, Paci, Monica, additional, Renzo, Sara, additional, Labriola, Flavio, additional, De Masi, Salvatore, additional, Alvisi, Patrizia, additional, and Lionetti, Paolo, additional

Published
2021
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36. Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy

Author

Lenge, Matteo, Marini, Carla, Canale, Edoardo, Napolitano, Antonio, De Masi, Salvatore, Trivisano, Marina, Mei, Davide, Longo, Daniela, Rossi Espagnet, Maria Camilla, Lucenteforte, Ersilia, Barba, Carmen, Specchio, Nicola, Striano, Pasquale, and Guerrini, Renzo

Subjects
Adult, Male, Adolescent, Cognitive Neuroscience, Encephalopathy, gyrification index, autism, Epileptogenesis, epilepsy, limbic formation, PCDH19 encephalopathy, White matter, Cellular and Molecular Neuroscience, Epilepsy, Young Adult, Neuroimaging, Cortex (anatomy), medicine, Limbic System, Humans, Child, Gyrification, Brain Mapping, business.industry, Infant, Entorhinal cortex, medicine.disease, Magnetic Resonance Imaging, White Matter, Protocadherins, medicine.anatomical_structure, Child, Preschool, Mutation, Female, business, Neuroscience, Spasms, Infantile
Abstract

Protocadherin-19 (PCDH19) is a calcium dependent cell-adhesion molecule involved in neuronal circuit formation with prevalent expression in the limbic structures. PCDH19-gene mutations cause a developmental encephalopathy with prominent infantile onset focal seizures, variably associated with intellectual disability and autistic features. Diagnostic neuroimaging is usually unrevealing. We used quantitative MRI to investigate the cortex and white matter in a group of 20 PCDH19-mutated patients. By a statistical comparison between quantitative features in PCDH19 brains and in a group of age and sex matched controls, we found that patients exhibited bilateral reductions of local gyrification index (lGI) in limbic cortical areas, including the parahippocampal and entorhinal cortex and the fusiform and lingual gyri, and altered diffusivity features in the underlying white matter. In patients with an earlier onset of seizures, worse psychiatric manifestations and cognitive impairment, reductions of lGI and diffusivity abnormalities in the limbic areas were more pronounced. Developmental abnormalities involving the limbic structures likely represent a measurable anatomic counterpart of the reduced contribution of the PCDH19 protein to local cortical folding and white matter organization and are functionally reflected in the phenotypic features involving cognitive and communicative skills as well as local epileptogenesis.

Published
2020

37. Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society

Author

Bevivino, Annamaria, Coiana, Alessandra, Fogazzi, Annalisa, Timelli, Fabiana, Signorini, Sandra, Lucarelli, Marco, Morelli, Patrizia, Padoan, Rita, Giordani, Barbara, Amato, Annalisa, Majo, Fabio, Ferrari, Gianluca, Quattrucci, Serena, Minicucci, Laura, Floridia, Giovanna, Fornaro, Gianna Puppo, Taruscio, Domenica, Salvatore, Marco, Seia, Manuela, Pierandrei, Silvia, Blaconà, Giovanna, Salvati, Valentina, Sette, Giovanni, Cimino, Giuseppe, Sangiuolo, Federica, Eramo, Adriana, Collura, Mirella, Parisi, Elisa, Ferlisi, Annalisa, Traverso, Gabriella, Bertolino, Marcella, Termini, Lisa, Orlando, Maria A., Di Girgenti, Caterina, Pavone, Valeria, Calamia, Maria A., Silvestro, Maria G., Piparo, Caterina Lo, Ficili, Francesca, Colombo, Carla, Tullis, Elizabeth, Davies, Jane C., Mckee, Charlotte, Desouza, Cynthia, Waltz, David, Savage, Jessica, Fisher, Marc, Shilling, Rebecca, Moskowitz, Sam, Robertson, Sarah, Tian, Simon, Taylor-Cousar, Jennifer L., Rowe, Steven M., Beccia, Elisa, Carbone, Annalucia, Favia, Maria, Castellani, Stefano, Angiolillo, Antonella, Casavola, Valeria, Conese, Massimo, Cesana, Bruno M., Falchetti, Diego, Battistini, Fiorella, Bignamini, Elisabetta, Braggion, Cesare, Cirilli, Natalia, Lucanto, Maria C., Lucidi, Vincenzina, Manca, Antonio, Raia, Valeria, Rotolo, Novella, Salvatore, Donatello, Volpi, Sonia, Nazzari, Erica, Guarise, Riccardo, Mileto, Palmiro, Garbarino, Francesca, Alicandro, Gianfranco, Battezzati, Alberto, Di Lullo, Antonella M., Comegna, Marika, Amato, Felice, Iacotucci, Paola, Carnovale, Vincenzo, Cantone, Elena, Iengo, Maurizio, Castaldo, Giuseppe, Orlando, Claudio, Casale, Alida, Sepe, Angela, De Gregorio, Fabiola, De Matteo, Antonia, Castaldo, Alice, Cimbalo, Chiara, Tosco, Antonella, Savi, Daniela, Mordenti, Michela, Bonci, Enea, Troiani, Patrizia, D’Alù, Viviana, Rossi, Paolo, Varchetta, Monica, Perelli, Tamara, Bertasi, Serenella, Palange, Paolo, Tardino, Lucia, Parisi, Giuseppe F., Portale, Anna, Franzonello, Chiara, Papale, Maria, Leonardi, Salvatore, Pennisi, Francesca, Bruno, Sabina M., Licciardello, Giulia, Ferraguti, Giampiero, Sterrantino, Manuela, Testino, Giancarlo, Buzzetti, Roberto, Surace, Cecilia, Sofia, Valentina M., Ullmann, Nicola, Novelli, Antonio, Angioni, Adriano, Liguori, Renato, Manzoni, Francesca, Di Palma, Chiara, Maietta, Sabrina, Zarrilli, Federica, Terlizzi, Vito, Alghisi, Federico, Tuccio, Giuseppe, Tradati, Valentina, di Stefano, Eliana, Dato, Patrizia, Sciarrabone, Maria G., Fondacaro, Carmela, Cresta, Federico, Baglioni, Valentina, Garuti, Silvia, Buffoni, Isabella, Landi, Francesca, Casciaro, Rosaria, Girelli, Daniela, Teri, Antonio, Sottotetti, Samantha, Biffi, Arianna, Vignati, Chiara, D’Accico, Monica, Maraschini, Anna, Arghittu, Milena, Pizzamiglio, Giovanna, Cariani, Elisa, Dolce, Daniela, Ravenni, Novella, Campana, Silvia, Camera, Erica, Castellani, Carlo, Taccetti, Giovanni, Calderone, Eleonora, Bandettini, Roberto, Innocenti, Chiara Degli, Castellani, Chiara, Masi, Eleonora, Cavicchi, Maria Chiara, Ferrari, Beatrice, Pezzotta, Ramona, Poli, Piercarlo, Messali, Serena, Timpano, Silvana, Scaltriti, Erika, Pongolini, Stefano, Fiorentini, Simona, Bresci, Silvia, Corsi, Lorenzo, Borchi, Beatrice, Cavallo, Annalisa, Bartalesi, Filippo, Pistolesi, Massimo, Bartoloni, Alessandro, Arcoleo, Federica, Pensabene, Tiziana, Bacci, Giovanni, Armanini, Federica, Fiscarelli, Ersilia V., Segata, Nicola, Mengoni, Alessio, Di Toppa, Maria V., Popa, Nicoleta, Felicetti, Francesco, Graziano, Sonia, Ciprandi, Riccardo, Pescini, Rita, Graffigna, Guendalina, Barello, Serena, Catastini, Paola, De Masi, Salvatore, Braggion, C., Guarnuto, Lucia, Di Liberti, Emanuela, Patti, Valentina, Castellazzi, Massimo Luca, Daccò, Valeria, Claut, Laura, Giuliari, Matteo, Vicentini, Luana, Tilotta, Fausto, Paciaroni, Antonella, Sala, Sabino Della, Guerzoni, Cristina, Andreatta, Elisa, Dinnella, Grazia, Granata, Orazia M., Aronica, Tommaso S., Crapisi, Mimì, Fogazza, Donatella, Alessi, Luca, Mulè, Flavia, Vitaliti, Marcello, Maresi, Mariarosaria, Catzola, Andrea, Salvadori, Laura, Colangelo, Carmela, Marsicovetere, Giovanni, D’Andria, Michele, Passarella, Domenica, Genovese, Carmela, Orlando, Mari A., Barrale, Stefania, Bonaccorso, Maria R., and D’Arpa, Annalisa

Subjects
lcsh:RJ1-570, lcsh:Pediatrics, Meeting Abstracts
Published
2018
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41. Mucosal and Histologic Healing in Children With Inflammatory Bowel Disease Treated With Antitumor Necrosis Factor-Alpha

Author

Scarallo, Luca, primary, Alvisi, Patrizia, additional, Bolasco, Giulia, additional, Di Toma, Michele, additional, Lanari, Marcello, additional, Cangiari, Alice, additional, Paci, Monica, additional, Naldini, Sara, additional, Renzo, Sara, additional, Barp, Jacopo, additional, De Masi, Salvatore, additional, and Lionetti, Paolo, additional

Published
2020
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44. Incidence and Risk Factors for Hepatitis C Virus Infection among Illicit Drug Users in Italy

Author

Spada, Enea, Rezza, Giovanni, Garbuglia, Anna Rosa, Lombardo, Flavia Lucia, Zuccaro, Ornella, MENNITI IPPOLITO, FRANCESCA, Cupellaro, Elisabetta, Capone, Stefania, Capobianchi, Maria Rosaria, Nicosia, Alfredo, Cortese, Riccardo, Folgori, Antonella, Mele, Alfonso, De Mei, Carlo, Coia, Angela, Santi, Vittorio, Masci, Marco, Cioce, Anna Maria, Mellace, Vincenzo, Battaglia, Egidio, Montesano, Franco, Biancolilli, Vincenzo, Farina, Pasquale, Cuccuini, Marco, Dozzini, Giuliano, De Luna, Antonio, Lovaste, Raffaele, Chiasera, Silvana, Cinquegrana, Antonia, Elba, Enrico, Secchi, Elisabetta, Nizzoli, Umberto, Zannini, Angela, Margaron, Henri, Mancino, Lucia, De Masi, Salvatore, Lobello, Salvatore, Vendramin, Andrea, Spada, Enea, Rezza, Giovanni, Garbuglia, Anna Rosa, Lombardo, Flavia Lucia, Zuccaro, Ornella, MENNITI IPPOLITO, Francesca, Cupellaro, Elisabetta, Capone, Stefania, Capobianchi, Maria Rosaria, Nicosia, Alfredo, Cortese, Riccardo, Folgori, Antonella, Mele, Alfonso, De Mei, Carlo, Coia, Angela, Santi, Vittorio, Masci, Marco, Cioce, Anna Maria, Mellace, Vincenzo, Battaglia, Egidio, Montesano, Franco, Biancolilli, Vincenzo, Farina, Pasquale, Cuccuini, Marco, Dozzini, Giuliano, De Luna, Antonio, Lovaste, Raffaele, Chiasera, Silvana, Cinquegrana, Antonia, Elba, Enrico, Secchi, Elisabetta, Nizzoli, Umberto, Zannini, Angela, Margaron, Henri, Mancino, Lucia, De Masi, Salvatore, Lobello, Salvatore, and Vendramin, Andrea

Subjects
Sexual partner, Adult, Male, medicine.medical_specialty, Health (social science), Adolescent, Article, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Harm Reduction, Risk Factors, Internal medicine, Epidemiology, Opiate Substitution Treatment, Medicine, Humans, 030212 general & internal medicine, Prospective Studies, Seroconversion, Prospective cohort study, Substance Abuse, Intravenous, Illicit drug use, Harm reduction, Opioid substitution treatment, business.industry, Illicit Drugs, Incidence (epidemiology), Incidence, Public Health, Environmental and Occupational Health, Middle Aged, Hepatitis C, Confidence interval, Urban Studies, Italy, Cohort, 030211 gastroenterology & hepatology, Female, Risk factor, business, Hepatitis C viru
Abstract

So far, only three small outdated studies have investigated hepatitis C virus (HCV) incidence and risk factors among illicit drug users (DUs) in Italy. Thus, during 2007–2010, we conducted a prospective cohort study among DUs attending 17 Italian rehabilitation centers serving urban areas. Two hundred eighty-four HCV-uninfected DUs were prospectively followed by interview and anti-HCV antibody and RNA testing every 6 months. Incidence was calculated using the person-years method. Infection predictors were assessed by time-dependent Cox analysis. Participants were mostly male (83.4%), under opioid substitution therapy (OST) (78.9%), non-injecting DUs (67.9%), and with a mean age of 30.8. Ninety-one of 224 DUs initially under OST interrupted treatment during the follow-up. Overall HCV incidence was 5.83/100 person-years at risk (PYAR) [95% confidence intervals (CI), 3.63–9.38]. The incidence did not significantly differ according the participants’ sociodemographic characteristics or the degree of urbanization of the towns involved in the study. The incidence was higher for DUs under than for those not under OST (6.23 vs 4.50/100 PYAR; p = 0.681). Incidence was also higher for those with than for those without OST interruption (7.17 vs 5.04/100 PYAR; p = 0.55). However, all these differences were non-significant. At last follow-up visit, a significant decrease in frequency of sharing equipment for preparation/using drugs (by injection or not) was observed by analyzing either the whole cohort or DUs under OST only. Anti-HCV seroconversion resulted independently associated with sharing drug preparation/use equipment, backloading, having a HCV-positive sexual partner, or household and (marginally) intravenous injection. In this study, HCV incidence was non-negligible and OST seemed to lack effectiveness in reducing it. In Italy, implementation of combined harm reduction interventions and antiviral treatment of chronically infected DUs would be needed.

Published
2018

46. Diagnostic implications of genetic copy number variation in epilepsy plus

Author

Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo, Cetica, Valentina, Lal, Dennis, Djémié, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Cross, J. Helen, Deconinck, Tine, De Masi, Salvatore, Dorn, Thomas, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J., Weckhuysen, Sarah, Zara, Federico, De Jonghe, Peter, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Moller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Clementella, Claudia, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina, Holmgren, Philip, Leu, Costin, Mari, Francesco, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana, Rosati, Anna, Sander, Josemir, Schoeler, Natasha, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke, Zuffardi, Orsetta, EuroEPINOMICS-RES Consortium, and EpiCNV Consortium

Subjects
epilepsy genes, mental disorders, array CGH, Human medicine, SNP array, copy number variants
Abstract

OBJECTIVE: Copy number variations (CNVs) represent a significant genetic risk for several neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of existing data is essential. Reliable estimates of the contribution of CNVs to epilepsies from sizeable populations are not available. METHODS: We assembled a cohort of 1255 patients with preexisting array comparative genomic hybridization or single nucleotide polymorphism array based CNV data. All patients had "epilepsy plus," defined as epilepsy with comorbid features, including intellectual disability, psychiatric symptoms, and other neurological and nonneurological features. CNV classification was conducted using a systematic filtering workflow adapted to epilepsy. RESULTS: Of 1097 patients remaining after genetic data quality control, 120 individuals (10.9%) carried at least one autosomal CNV classified as pathogenic; 19 individuals (1.7%) carried at least one autosomal CNV classified as possibly pathogenic. Eleven patients (1%) carried more than one (possibly) pathogenic CNV. We identified CNVs covering recently reported (HNRNPU) or emerging (RORB) epilepsy genes, and further delineated the phenotype associated with mutations of these genes. Additional novel epilepsy candidate genes emerge from our study. Comparing phenotypic features of pathogenic CNV carriers to those of noncarriers of pathogenic CNVs, we show that patients with nonneurological comorbidities, especially dysmorphism, were more likely to carry pathogenic CNVs (odds ratio = 4.09, confidence interval = 2.51-6.68; P = 2.34 × 10-9 ). Meta-analysis including data from published control groups showed that the presence or absence of epilepsy did not affect the detected frequency of CNVs. SIGNIFICANCE: The use of a specifically adapted workflow enabled identification of pathogenic autosomal CNVs in 10.9% of patients with epilepsy plus, which rose to 12.7% when we also considered possibly pathogenic CNVs. Our data indicate that epilepsy with comorbid features should be considered an indication for patients to be selected for a diagnostic algorithm including CNV detection. Collaborative large-scale CNV reanalysis leads to novel declaration of pathogenicity in unexplained cases and can promote discovery of promising candidate epilepsy genes. ispartof: EPILEPSIA vol:60 issue:4 pages:689-706 ispartof: location:United States status: published

Published
2019

47. L‐DOPATest in the Diagnosis of Childhood Short Stature: Evaluation of Growth Hormone Peaks Over Time

Author

Castelli, Barbara, De Santis, Rita, Carrera, Simona, Malanima, Marco Andrea, De Masi, Salvatore, and Stagi, Stefano

Abstract

In childhood, growth hormone (GH) deficiency (GHD) diagnosis is based on auxological assessment and biochemical provocative tests, whose reliability remains disputed. Recently, several papers have been published on standardising the duration of some tests. The aim of our study was to analyse the possible length reduction of the L‐DOPA provocative test. We retrospectively investigated the response of GH to L‐DOPA in 256 children, analysing 267 tests (some patients were retested over time for the persistence of severe auxopathy). We studied the same data considering GH peak threshold both at 8 ng/mL (Italian GHD cut‐off) and at 10 ng/mL (international cut‐off). Based on stimulation tests, patients were divided into two groups: GHD and no‐GHD short children. We described the results in the whole population and then clustering for gender and pubertal stage. We termed as index the test stopped at 90 min. The GH peak after L‐DOPA mostly occurred at 60 min. The sensitivity of the index test was the highest, while the specificity was slightly higher using the 8 ng/mL threshold (specificity = 0.68; 95% CI 0.60–0.76) then using the 10 ng/mL threshold (specificity = 0.56; 95% CI 0.47–0.65) at 90 min. The two ROC curves showed moderate performance of the test at 90 min. While the negative predictive value was 100% in both tests, the positive predictive value was slightly better with 10 ng/mL cut‐off. Considering the two groups established by GHD definition and placing a GH threshold at 10 ng/mL, stopping L‐DOPA test time at 90 min would have changed the test result and subsequentially patient's classification in 3/267 of the analysed tests (1.1%), while with the Italian GH threshold value at 8 ng/mL in 7/267 of the tests (2.6%). Our research shows that omitting 120‐min time reduces L‐DOPA test specificity, especially with GHD cut‐off at 10 ng/mL. In childhood growth hormone deficiency (GHD) diagnosis is based on auxological assessment and biochemical provocative tests. We analysed the L‐DOPA provocative test, evaluating GH peaks distribution over time and examining in detail the 120‐min time, to assess the possibility of length reduction. We noticed that omitting 120‐min time reduces test specificity, especially with GHD cut‐off at 10 ng/mL.

Published
2024
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49. Refractive Outcome in Preterm Newborns With ROP After Propranolol Treatment. A Retrospective Observational Cohort Study

Author

Filippi, Luca, primary, Cavallaro, Giacomo, additional, Perciasepe, Lavinia, additional, Sandini, Elena, additional, Araimo, Gabriella, additional, Regiroli, Giulia, additional, Raffaeli, Genny, additional, Bagnoli, Paola, additional, Dal Monte, Massimo, additional, Calvani, Maura, additional, Fortunato, Pina, additional, Osnaghi, Silvia, additional, De Masi, Salvatore, additional, and Mosca, Fabio, additional

Published
2019
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