162 results on '"Mostacci B."'
Search Results
2. The Prognostic Roles of Gender and O6-Methylguanine-DNA Methyltransferase Methylation Status in Glioblastoma Patients: The Female Power
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Baruzzi, A., Albani, F., Calbucci, F., D'Alessandro, R., Michelucci, R., Brandes, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Franceschi, E., Tosoni, A., Fiorica, F., Valentini, A., Depenni, R., Mucciarini, C., Crisi, G., Sasso, E., Biasini, C., Cavanna, L., Guidetti, D., Marcello, N., Pisanello, A., Cremonini, A.M., Guiducci, G., de Pasqua, S., Testoni, S., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall'Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall'Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Faedi, M., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Dazzi, C., Guidi, A.R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Colella, M., Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M.R., Urbini, B., Zini, G., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E.M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., Franceschi, Enrico, Tosoni, Alicia, Minichillo, Santino, Depenni, Roberta, Paccapelo, Alexandro, Bartolini, Stefania, Michiara, Maria, Pavesi, Giacomo, Urbini, Benedetta, Crisi, Girolamo, Cavallo, Michele A., Tosatto, Luigino, Dazzi, Claudio, Biasini, Claudia, Pasini, Giuseppe, Balestrini, Damiano, Zanelli, Francesca, Ramponi, Vania, Fioravanti, Antonio, Giombelli, Ermanno, De Biase, Dario, Baruzzi, Agostino, and Brandes, Alba A.
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- 2018
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3. Risk of SARS-CoV-2 infection, hospitalization and death for COVID-19 in people with Parkinson's disease or parkinsonism over a 15-month period: a cohort study
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Zenesini C., Vignatelli L., Belotti L. M. B., Baccari F., Calandra Buonaura G., Cortelli P., Descovich C., Giannini G., Guaraldi P., Guarino M., Loddo G., Pantieri R., Perlangeli V., Scaglione C., Stivanello E., Trombetti S., D'Alessandro R., Baldin E., Nonino F., Azzoni E., Baschieri F., Bellan M., Bettelli L., Bonavina G., Capellari S., Cevoli S., de Carolis P., Di Diodoro D., Fabbri G., Ferrara R., Gabellini A. S., Lucchi F., Mostacci B., Procaccianti G., Rinaldi R., Rizzo G., Sacquegna T., Samoggia G., Tempestini A., Trocino C., Zenesini C., Vignatelli L., Belotti L.M.B., Baccari F., Calandra Buonaura G., Cortelli P., Descovich C., Giannini G., Guaraldi P., Guarino M., Loddo G., Pantieri R., Perlangeli V., Scaglione C., Stivanello E., Trombetti S., D'Alessandro R., Baldin E., Nonino F., Azzoni E., Baschieri F., Bellan M., Bettelli L., Bonavina G., Capellari S., Cevoli S., de Carolis P., Di Diodoro D., Fabbri G., Ferrara R., Gabellini A.S., Lucchi F., Mostacci B., Procaccianti G., Rinaldi R., Rizzo G., Sacquegna T., Samoggia G., Tempestini A., and Trocino C.
- Subjects
Parkinson disease ,Neurology ,COVID-19 ,Neurology (clinical) ,frail elderly ,parkinsonism ,cohort studie - Abstract
Background and purpose: The patterns of long-term risk of SARS-CoV-2 infection, hospitalization for COVID-19, and related death are uncertain in people with Parkinson disease (PD) or parkinsonism (PS). The aim of the study was to quantify these risks compared to a control population cohort, during the period March 2020–May 2021, in Bologna, Northern Italy. Methods: ParkLink Bologna cohort (759 PD, 192 PS) and controls (9226) anonymously matched (ratio=1:10) for sex, age, district, and comorbidity were included. Data were analysed in the whole period and in the two different pandemic waves (March–May 2020 and October 2020–May 2021). Results: Adjusted hazard ratio of SARS-CoV-2 infection was 1.3 (95% confidence interval [CI] = 1.04–1.7) in PD and 1.9 (95% CI=1.3–2.8) in PS compared to the controls. The trend was detected in both the pandemic waves. Adjusted hazard ratio of hospitalization for COVID-19 was 1.1 (95% CI=0.8–1.7) in PD and 1.8 (95% CI=0.97–3.1) in PS. A higher risk of hospital admission was detected in PS only in the first wave. The 30-day mortality risk after hospitalization was higher (p= 0.048) in PS (58%) than in PD (19%) and controls (26%). Conclusions: Compared with controls, after adjustment for key covariates, people with PD and PS showed a higher risk of SARS-CoV-2 infection throughout the first 15 months of the pandemic. COVID-19 hospitalization risk was increased only in people with PS and only during the first wave. This group of patients was burdened by a very high risk of death after infection and hospitalization.
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- 2022
4. A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy
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Licchetta, L., Bisulli, F., Fietz, M., Valentino, M.L., Morbin, M., Mostacci, B., Oliver, K.L., Berkovic, S.F., and Tinuper, P.
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- 2015
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5. The Arousal Disorders Questionnaire: a new and effective screening tool
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Loddo, G., primary, La Fauci, G., additional, Vignatelli, L., additional, Zenesini, C., additional, Cilea, R., additional, Mignani, F., additional, Cecere, A., additional, Mondini, S., additional, Baldelli, L., additional, Bisulli, F., additional, Licchetta, L., additional, Mostacci, B., additional, Guaraldi, P., additional, Giannini, G., additional, Tinuper, P., additional, and Provini, F., additional
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- 2022
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6. Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy
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Baldin, Elisa, Testoni, Stefania, de Pasqua, Silvia, Ferro, Salvatore, Albani, Fiorenzo, Baruzzi, Agostino, D’Alessandro, Roberto, Baruzzi, A., Albani, F., Calbucci, F., D’Alessandro, R., Michelucci, R., Brandes, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Franceschi, E., Tosoni, A., Cavallo, M., Fiorica, F., Valentini, A., Depenni, R., Mucciarini, C., Crisi, G., Sasso, E., Biasini, C., Cavanna, L., Guidetti, D., Marcello, N., Pisanello, A., Cremonini, A. M., Guiducci, G., de Pasqua, S., Testoni, S., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall’Agata, M., Faedi, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Dazzi, C., Guidi, A. R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Fallica, E., Granieri, E., Latini, F., Lelli, G., Monetti, C., Saletti, A., Schivalocchi, R., Seraceni, S., Tola, M. R., Urbini, B., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., and On behalf of PERNO study group
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- 2017
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7. Correction to: Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study
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Franceschi, Enrico, Depenni, Roberta, Paccapelo, Alexandro, Ermani, Mario, Faedi, Marina, Sturiale, Carmelo, Michiara, Maria, Servadei, Franco, Pavesi, Giacomo, Urbini, Benedetta, Pisanello, Anna, Crisi, Girolamo, Cavallo, Michele A., Dazzi, Claudio, Biasini, Claudia, Bertolini, Federica, Mucciarini, Claudia, Pasini, Giuseppe, Baruzzi, Agostino, Brandes, Alba A., Baruzzi, A., Albani, F., Calbucci, F., D’Alessandro, R., Michelucci, R., Brandes, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Franceschi, E., Tosoni, A., Cavallo, M., Fiorica, F., Valentini, A., Depenni, R., Mucciarini, C., Crisi, G., Sasso, E., Biasini, C., Cavanna, L., Guidetti, D., Marcello, N., Pisanello, A., Cremonini, A. M., Guiducci, G., de Pasqua, S., Testoni, S., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., PastoreTrossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall’Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Faedi, M., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Dazzi, C., Guidi, A. R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Colella, M., Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M. R., Urbini, B., Zini, G., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., and The PERNO Study Group
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- 2017
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8. Epilepsy with auditory features: Contribution of known genes in 112 patients
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Bisulli, F., Rinaldi, C., Pippucci, T., Minardi, R., Baldassari, S., Zenesini, C., Mostacci, B., Fanella, M., Avoni, P., Menghi, V., Caporali, L., Muccioli, L., Tinuper, P., and Licchetta, L.
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- 2021
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9. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
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Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, Goldstein, DB, Motelow, JE, Povysil, G, Dhindsa, RS, Stanley, KE, Allen, AS, Feng, Y-CA, Howrigan, DP, Abbott, LE, Tashman, K, Cerrato, F, Cusick, C, Singh, T, Heyne, H, Byrnes, AE, Churchhouse, C, Watts, N, Solomonson, M, Lal, D, Gupta, N, Neale, BM, Cavalleri, GL, Cossette, P, Cotsapas, C, De Jonghe, P, Dixon-Salazar, T, Guerrini, R, Hakonarson, H, Heinzen, EL, Helbig, I, Kwan, P, Marson, AG, Petrovski, S, Kamalakaran, S, Sisodiya, SM, Stewart, R, Weckhuysen, S, Depondt, C, Dlugos, DJ, Scheffer, IE, Striano, P, Freyer, C, Krause, R, May, P, McKenna, K, Regan, BM, Bennett, CA, Leu, C, Leech, SL, O'Brien, TJ, Todaro, M, Stamberger, H, Andrade, DM, Ali, QZ, Sadoway, TR, Krestel, H, Schaller, A, Papacostas, SS, Kousiappa, I, Tanteles, GA, Christou, Y, Sterbova, K, Vlckova, M, Sedlackova, L, Lassuthova, P, Klein, KM, Rosenow, F, Reif, PS, Knake, S, Neubauer, BA, Zimprich, F, Feucht, M, Reinthaler, EM, Kunz, WS, Zsurka, G, Surges, R, Baumgartner, T, von Wrede, R, Pendziwiat, M, Muhle, H, Rademacher, A, van Baalen, A, von Spiczak, S, Stephani, U, Afawi, Z, Korczyn, AD, Kanaan, M, Canavati, C, Kurlemann, G, Muller-Schluter, K, Kluger, G, Haeusler, M, Blatt, I, Lemke, JR, Krey, I, Weber, YG, Wolking, S, Becker, F, Lauxmann, S, Bosselmann, C, Kegele, J, Hengsbach, C, Rau, S, Steinhoff, BJ, Schulze-Bonhage, A, Borggraefe, I, Schankin, CJ, Schubert-Bast, S, Schreiber, H, Mayer, T, Korinthenberg, R, Brockmann, K, Wolff, M, Dennig, D, Madeleyn, R, Kalviainen, R, Saarela, A, Timonen, O, Linnankivi, T, Lehesjoki, A-E, Rheims, S, Lesca, G, Ryvlin, P, Maillard, L, Valton, L, Derambure, P, Bartolomei, F, Hirsch, E, Michel, V, Chassoux, F, Rees, M, Chung, S-K, Pickrell, WO, Powell, R, Baker, MD, Fonferko-Shadrach, B, Lawthom, C, Anderson, J, Schneider, N, Balestrini, S, Zagaglia, S, Braatz, V, Johnson, MR, Auce, P, Sills, GJ, Baum, LW, Sham, PC, Cherny, SS, Lui, CHT, Delanty, N, Doherty, CP, Shukralla, A, El-Naggar, H, Widdess-Walsh, P, Barisi, N, Canafoglia, L, Franceschetti, S, Castellotti, B, Granata, T, Ragona, F, Zara, F, Iacomino, M, Riva, A, Madia, F, Vari, MS, Salpietro, V, Scala, M, Mancardi, MM, Nobili, L, Amadori, E, Giacomini, T, Bisulli, F, Pippucci, T, Licchetta, L, Minardi, R, Tinuper, P, Muccioli, L, Mostacci, B, Gambardella, A, Labate, A, Annesi, G, Manna, L, Gagliardi, M, Parrini, E, Mei, D, Vetro, A, Bianchini, C, Montomoli, M, Doccini, V, Barba, C, Hirose, S, Ishii, A, Suzuki, T, Inoue, Y, Yamakawa, K, Beydoun, A, Nasreddine, W, Zgheib, NK, Tumiene, B, Utkus, A, Sadleir, LG, King, C, Caglayan, SH, Arslan, M, Yapici, Z, Topaloglu, P, Kara, B, Yis, U, Turkdogan, D, Gundogdu-Eken, A, Bebek, N, Tsai, M-H, Ho, C-J, Lin, C-H, Lin, K-L, Chou, I-J, Poduri, A, Shiedley, BR, Shain, C, Noebels, JL, Goldman, A, Busch, RM, Jehi, L, Najm, IM, Ferguson, L, Khoury, J, Glauser, TA, Clark, PO, Buono, RJ, Ferraro, TN, Sperling, MR, Lo, W, Privitera, M, French, JA, Schachter, S, Kuzniecky, R, Devinsky, O, Hegde, M, Greenberg, DA, Ellis, CA, Goldberg, E, Helbig, KL, Cosico, M, Vaidiswaran, P, Fitch, E, Berkovic, SF, Lerche, H, Lowenstein, DH, and Goldstein, DB
- Abstract
Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Specifically, we compared the genetic architectures of severe developmental and epileptic encephalopathies (DEEs) and two generally less severe epilepsies, genetic generalized epilepsy and non-acquired focal epilepsy (NAFE). Our gene-based rare variant collapsing analysis used geographic ancestry-based clustering that included broader ancestries than previously possible and revealed novel associations. Using the missense intolerance ratio (MTR), we found that variants in DEE-affected individuals are in significantly more intolerant genic sub-regions than those in NAFE-affected individuals. Only previously reported pathogenic variants absent in available genomic datasets showed a significant burden in epilepsy-affected individuals compared with control individuals, and the ultra-rare pathogenic variants associated with DEE were located in more intolerant genic sub-regions than variants associated with non-DEE epilepsies. MTR filtering improved the yield of ultra-rare pathogenic variants in affected individuals compared with control individuals. Finally, analysis of variants in genes without a disease association revealed a significant burden of loss-of-function variants in the genes most intolerant to such variation, indicating additional epilepsy-risk genes yet to be discovered. Taken together, our study suggests that genic and sub-genic intolerance are critical characteristics for interpreting the effects of variation in genes that influence epilepsy.
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- 2021
10. Erratum to: Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy
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Baldin, Elisa, Testoni, Stefania, de Pasqua, Silvia, Ferro, Salvatore, Albani, Fiorenzo, Baruzzi, Agostino, D’Alessandro, Roberto, Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Cerasoli, S., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Visani, M., Dall’Agata, M., Faedi, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Dazzi, C., Guidi, A. R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Fallica, E., Granieri, E., Latini, F., Lelli, G., Monetti, C., Saletti, A., Schivalocchi, R., Seraceni, S., Tola, M. R., Urbini, B., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., and On behalf of PERNO study group
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- 2017
- Full Text
- View/download PDF
11. Epileptologists telling their experiences caring for patients with epilepsy
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Chesi, P., primary, Marini, M.G., additional, Scarlata, P., additional, Mecarelli, O., additional, Aguglia, U., additional, Assenza, G., additional, Audenino, D., additional, Benna, P., additional, Bilo, L., additional, Boero, G., additional, Costa, C., additional, D’Orsi, G., additional, De Liso, A., additional, De Palma, L., additional, Elia, M., additional, Ferrari, A., additional, La Neve, A., additional, Lalla, A., additional, Michelucci, R., additional, Minicucci, F., additional, Mostacci, B., additional, Piazza, F., additional, Quarato, PP, additional, Ranzato, F., additional, Tassi, L., additional, Vatti, G., additional, and Vignoli, A., additional
- Published
- 2021
- Full Text
- View/download PDF
12. NOCTURNAL FRONTAL LOBE EPILEPSY AND PARASOMNIAS DIFFERENTIAL DIAGNOSIS: ACCURACY OF TWO DIFFERENT CLINICAL DIAGNOSTIC TOOLS: p798
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Broli, M., Bisulli, F., Di Vito, L., Leta, C., Mostacci, B., Naldi, I., Tinuper, P., and Vignatelli, L.
- Published
- 2012
13. EFFECTS OF VAGUS NERVE STIMULATION ON SEIZURES AND CARDIOVASCULAR RESPONSES IN PATIENTS WITH DRUG-RESISTANT EPILEPSY: p541
- Author
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Naldi, I., Mostacci, B., Broli, M., Guaraldi, P., Alvisi, L., Barletta, G., Pittau, F., Leta, C., Bisulli, F., Cortelli, P., and Tinuper, P.
- Published
- 2012
14. Correction to: Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study (Journal of Neuro-Oncology, (2016), 128, 1, (157-162), 10.1007/s11060-016-2093-1)
- Author
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Franceschi, Enrico, Depenni, Roberta, Paccapelo, Alexandro, Ermani, Mario, Faedi, Marina, Sturiale, Carmelo, Michiara, Maria, Servadei, Franco, Pavesi, Giacomo, Urbini, Benedetta, Pisanello, Anna, Crisi, Girolamo, Cavallo, Michele A., Dazzi, Claudio, Biasini, Claudia, Bertolini, Federica, Mucciarini, Claudia, Pasini, Giuseppe, Baruzzi, Agostino, Brandes, Alba A., Baruzzi, A., Albani, F., Calbucci, F., D’Alessandro, R., Michelucci, R., Brandes, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Franceschi, E., Tosoni, A., Cavallo, Marino, Fiorica, F., Valentini, A., Depenni, R., Mucciarini, C., Crisi, G., Sasso, Enrico, Biasini, C., Cavanna, L., Guidetti, D., Marcello, Norina, Pisanello, A., Cremonini, A. M., Guiducci, G., de Pasqua, S., Testoni, S., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, Stefano, Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, Vincenzo, Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall’Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Faedi, M., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, Giuseppe, Cenni, P., Dazzi, C., Guidi, A. R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, Mario, Pasquini, Elena, Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, Greta, Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, Corrado, Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Colella, Margherita, Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M. R., Urbini, B., Zini, G., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., and Nobile, C.
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Cancer Research ,Oncology ,Neurology ,Neurology (clinical) - Published
- 2018
15. Super refractory status epilepticus in Lafora disease interrupted by vagus nerve stimulation: A case report
- Author
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Mostacci, B., primary, Bisulli, F., additional, Muccioli, L., additional, Minardi, I., additional, Bandini, M., additional, Licchetta, L., additional, Zucchelli, M., additional, Leta, C., additional, Michelucci, R., additional, Zanello, M., additional, and Tinuper, P., additional
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- 2019
- Full Text
- View/download PDF
16. Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases
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CARLOTTA STIPA, Licchetta, Laura, Andrea Farolfi, Paccagnella, E., Magini, P., Pippucci, T., Leta, Chiara, Menghi, V., Ferri, L., Mostacci, B., paolo tinuper, Francesca Bisulli, Stipa, Carlotta, Licchetta, Laura, Farolfi, A, Paccagnella, E, Magini, P, Pippucci, T, Leta, C, Menghi, V, Ferri, L, Mostacci, B, Tinuper, Paolo, and Bisulli, Francesca
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intellectual disability ,epilepsy - Abstract
Since November 2013 to January 2016 we recruited patients with epilepsy and intellectual disability (ID) referring to our Epilepsy Center. Patients underwent full clinical and neurophysiologic evaluation...
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- 2016
17. Which elderly newly diagnosed glioblastoma patients can benefit from radiotherapy and temozolomide? A PERNO prospective study
- Author
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Franceschi, Enrico, Depenni, R., Paccapelo, Alexandro, Ermani, Mario, Faedi, M., Sturiale, Carmelo, Michiara, Maria, Servadei, F., Pavesi, Giacomo, Urbini, B., Pisanello, A., Crisi, G., Cavallo, Michele A., Dazzi, C., Biasini, C., Bertolini, F., Mucciarini, C., Pasini, G., Baruzzi, Agostino, Brandes, Alba A, Albani, F., Calbucci, F., D’Alessandro, R., Michelucci, R., de Pasqua, S., Testoni, S., Brandes, A., Franceschi, E., Tosoni, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Fiorica, F., Sasso, E., Cavanna, L., Guidetti, D., Marcello, N., Cremonini, A. M., Guiducci, G., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall’Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Guidi, A. R., Zumaglini, F., Amadori, A., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, Stefano, Nichelli, Paolo Frigio, Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Colella, M., Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M. R., Zini, G., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., Franceschi, E., Depenni, R., Paccapelo, Alexandro, Ermani, Mario, Faedi, M., Sturiale, Carmelo, Michiara, Maria, Servadei, F., Pavesi, Giacomo, Urbini, B., Pisanello, A., Crisi, G., Cavallo, Michele A., Dazzi, C., Biasini, C., Bertolini, F., Mucciarini, C., Pasini, G., Baruzzi, Agostino, Brandes, Alba A., Albani, F., Calbucci, F., D’Alessandro, R., Michelucci, R., de Pasqua, S., Testoni, S., Brandes, A., Tosoni, A., Eusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Fiorica, F., Sasso, E., Cavanna, L., Guidetti, D., Marcello, N., Cremonini, A.M., Guiducci, G., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Dall’Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Guidi, A.R., Zumaglini, F., Amadori, A., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Colella, M., Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M.R., Zini, G., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Silini, E.M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., and Nobile, C.
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Oncology ,medicine.medical_specialty ,Cancer Research ,medicine.medical_treatment ,Dacarbazine ,Population ,Context (language use) ,NO ,03 medical and health sciences ,0302 clinical medicine ,Elderly ,Internal medicine ,medicine ,Temozolomide ,Humans ,MGMT methylation ,Prospective Studies ,Prospective cohort study ,education ,Promoter Regions, Genetic ,Antineoplastic Agents, Alkylating ,DNA Modification Methylases ,Survival analysis ,Aged ,Aged, 80 and over ,education.field_of_study ,Radiotherapy ,business.industry ,Brain Neoplasms ,Tumor Suppressor Proteins ,Glioblastoma ,Neurology (clinical) ,Neurology ,DNA Methylation ,Survival Analysis ,Surgery ,Radiation therapy ,DNA Repair Enzymes ,030220 oncology & carcinogenesis ,Concomitant ,business ,030217 neurology & neurosurgery ,medicine.drug - Abstract
The role of temozolomide concurrent with and adjuvant to radiotherapy (RT/TMZ) in elderly patients with glioblastoma (GBM) remains unclear. We evaluated the outcome of patients >70 years in the context of the Project of Emilia-Romagna Region in Neuro-Oncology (PERNO), the first Italian prospective observational population-based study in neuro-oncology. For this analysis the criteria for selecting patients enrolled in the PERNO study were: age >70 years; PS 0–3; histologically confirmed GBM; postoperative radiotherapy (RT) after surgery with or without concomitant temozolomide (TMZ) or postsurgical TMZ alone. Between January 2009 and December 2010, 76 GBM elderly patients were identified in the prospective PERNO study. Twenty-three patients did not receive any treatment after surgery, and 53 patients received postsurgical treatments (25 patients received RT alone and 28 patients RT/TMZ). Median survival was 11.1 months (95 % CI 8.8–13.5), adding temozolomide concomitant and adjuvant to radiotherapy it was 11.6 months (95 % CI 8.6–14.6), and 9.3 months (95 % CI 8.1–10.6) in patients treated with RT alone (P = 0.164). However, patients with MGMT methylated treated with RT/TMZ obtained a better survival (17.2 months, 95 % CI 11.5–22.9) (P = 0.042). No difference in terms of survival were observed if patients with MGMT unmethylated tumor received RT alone, or RT/TMZ or, in MGMT methylated tumor, if patients received radiotherapy alone. In elderly patients RT/TMZ represent a widely used approach but it is effective with methylated MGMT tumors only.
- Published
- 2016
18. Erratum to: Incidence of neuroepithelial primary brain tumors among adult population of Emilia-Romagna Region, Italy
- Author
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Baldin, E, Testoni, S, de Pasqua, S, Ferro, S, Albani, F, Baruzzi, A, D'Alessandro, R, PERNO study group Participants: Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Cerasoli, S., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., (Bologna), Visani M., Dall’Agata, M., Faedi, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A. ., (ForlI´-Cesena), Strumia S., Casmiro, M., Gamboni, A., (Faenza, Rasi F., RA), (Lugo, Cruciani G., Cenni, P., Dazzi, C., Guidi, A. R., (Ravenna), Zumaglini F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., (Rimini), Viti B., (Cattolica, Sintini M., RN), Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., (Modena), Zunarelli E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., (Carpi, Stucchi C., MO), Iaccarino, C, Ragazzi, M., Rizzi, R., (Reggio Emilia), Zuccoli G., Api, P., Cartei, F., Fallica, E., Granieri, E., Latini, F., Lelli, G., Monetti, C., Saletti, A., Schivalocchi, R., Seraceni, S., Tola, M. R., (Ferrara), Urbini B., Giorgi, C., (Fidenza, Montanari E., PR), Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, Em., (Parma), Torelli P., Immovilli, P., Morelli, N., (Piacenza), Vanzo C., Nobile, C. (Padova)., Elisa Baldin, Stefania Testoni, Silvia de Pasqua, Salvatore Ferro, Fiorenzo Albani, Agostino Baruzzi, Roberto D’Alessandro, On behalf of PERNO study group, ELENA BONORA, and DARIO DE BIASE
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Psychiatry and Mental Health ,Dermatology ,General Medicine ,Neurology (clinical) - Abstract
Unfortunately, some of the participants of the PERNO Study Group are missing in the original publication of the article. The correct details are given below: Participants: Agati R., Ambrosetto G., Bacci A., Baldin E., Baldrati A., Barbieri E., Bartolini S., Bellavista E., Bisulli F., Bonora E., Bunkheila F., Carelli V., Cerasoli S., Crisci M., Dall’Occa P., de Biase D., Ferro S., Franceschi C., Frezza G., GrassoV., Leonardi M., Marucci G., Morandi L., Mostacci B., Palandri G., Pasini E., Pastore Trossello M., Pession A., Poggi R., Riguzzi P., Rinaldi R., Rizzi S., Romeo G., Spagnolli F., Tinuper P., Trocino C., Visani M. (Bologna), Dall’Agata M., Faedi M., Frattarelli M., Gentili G., Giovannini A., Iorio P., Pasquini U., Galletti G., Guidi C., Neri W., Patuelli A.., Strumia S. (ForlÍ-Cesena), Casmiro M., Gamboni A., Rasi F. (Faenza, RA), Cruciani G. (Lugo, RA), Cenni P., Dazzi C., Guidi A.R., Zumaglini F. (Ravenna), Amadori A., Pasini G., Pasquinelli M., Pasquini E., Polselli A., Ravasio A., Viti B. (Rimini), Sintini M. (Cattolica, RN), Ariatti A., Bertolini F., Bigliardi G., Carpeggiani P., Cavalleri F., Meletti S., Nichelli P., Pettorelli E., Pinna G., Zunarelli E. (Modena), Artioli F., Bernardini I., Costa M., Greco G., Guerzoni R., Stucchi C. (Carpi, MO), Iaccarino C., Ragazzi M., Rizzi R., Zuccoli G. (Reggio Emilia), Api P., Cartei F., Fallica E., Granieri E., Latini F., Lelli G., Monetti C., Saletti A., Schivalocchi R., Seraceni S., Tola M.R., Urbini B. (Ferrara), Giorgi C., Montanari E. (Fidenza, PR), Cerasti D., Crafa P., Dascola I., Florindo I., Giombelli E., Mazza S., Ramponi V., Servadei F., Silini EM., Torelli P. (Parma), Immovilli P., Morelli N., Vanzo C. (Piacenza), Nobile C. (Padova).
- Published
- 2017
19. Erratum to: Survival prediction in high-grade gliomas using CT perfusion imaging [J Neurooncol (2015) 123, 93-102, DOI 10.1007/s11060-015-1766-5]
- Author
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Yeung T. P. C., Wang Y., He W., Urbini B., Gafa R., Ulazzi L., Yartsev S., Bauman G., Lee T. -Y., Fainardi E., Baruzzi A., Albani F., Calbucci F., D'alessandro R., Michelucci R., Brandes A., Eusebi V., Ceruti S., Tamarozzi R., Emiliani E., Cavallo M., Franceschi E., Tosoni A., Fiorica F., Valentini A., Depenni R., Mucciarini C., Crisi G., Sasso E., Biasini C., Cavanna L., Guidetti D., Marcello N., Pisanello A., Cremonini A. M., Guiducci G., de Pasqua S., Testoni S., Agati R., Ambrosetto G., Bacci A., Baldin E., Baldrati A., Barbieri E., Bartolini S., Bellavista E., Bisulli F., Bonora E., Bunkheila F., Carelli V., Crisci M., Dall'occa P., de Biase D., Ferro S., Franceschi C., Frezza G., Grasso V., Leonardi M., Marucci G., Morandi L., Mostacci B., Palandri G., Pasini E., Pastore Trossello M., Pession A., Poggi R., Riguzzi P., Rinaldi R., Rizzi S., Romeo G., Spagnolli F., Tinuper P., Trocino C., Dall'agata M., Frattarelli M., Gentili G., Giovannini A., Iorio P., Pasquini U., Galletti G., Guidi C., Neri W., Patuelli A., Strumia S., Faedi M., Casmiro M., Gamboni A., Rasi F., Cruciani G., Cenni P., Dazzi C., Guidi A. R., Zumaglini F., Amadori A., Pasini G., Pasquinelli M., Pasquini E., Polselli A., Ravasio A., Viti B., Sintini M., Ariatti A., Bertolini F., Bigliardi G., Carpeggiani P., Cavalleri F., Meletti S., Nichelli P., Pettorelli E., Pinna G., Zunarelli E., Artioli F., Bernardini I., Costa M., Greco G., Guerzoni R., Stucchi C., Iaccarino C., Ragazzi M., Rizzi R., Zuccoli G., Api P., Cartei F., Colella M., Fallica E., Farneti M., Frassoldati A., Granieri E., Latini F., Monetti C., Saletti A., Schivalocchi R., Sarubbo S., Seraceni S., Tola M. R., Zini G., Giorgi C., Montanari E., Cerasti D., Crafa P., Dascola I., Florindo I., Giombelli E., Mazza S., Ramponi V., Servadei F., Silini E. M., Torelli P., Immovilli P., Morelli N., Vanzo C., Nobile C., Yeung T.P.C., Wang Y., He W., Urbini B., Gafa R., Ulazzi L., Yartsev S., Bauman G., Lee T.-Y., Fainardi E., Baruzzi A., Albani F., Calbucci F., D'alessandro R., Michelucci R., Brandes A., Eusebi V., Ceruti S., Tamarozzi R., Emiliani E., Cavallo M., Franceschi E., Tosoni A., Fiorica F., Valentini A., Depenni R., Mucciarini C., Crisi G., Sasso E., Biasini C., Cavanna L., Guidetti D., Marcello N., Pisanello A., Cremonini A.M., Guiducci G., de Pasqua S., Testoni S., Agati R., Ambrosetto G., Bacci A., Baldin E., Baldrati A., Barbieri E., Bartolini S., Bellavista E., Bisulli F., Bonora E., Bunkheila F., Carelli V., Crisci M., Dall'occa P., de Biase D., Ferro S., Franceschi C., Frezza G., Grasso V., Leonardi M., Marucci G., Morandi L., Mostacci B., Palandri G., Pasini E., Pastore Trossello M., Pession A., Poggi R., Riguzzi P., Rinaldi R., Rizzi S., Romeo G., Spagnolli F., Tinuper P., Trocino C., Dall'agata M., Frattarelli M., Gentili G., Giovannini A., Iorio P., Pasquini U., Galletti G., Guidi C., Neri W., Patuelli A., Strumia S., Faedi M., Casmiro M., Gamboni A., Rasi F., Cruciani G., Cenni P., Dazzi C., Guidi A.R., Zumaglini F., Amadori A., Pasini G., Pasquinelli M., Pasquini E., Polselli A., Ravasio A., Viti B., Sintini M., Ariatti A., Bertolini F., Bigliardi G., Carpeggiani P., Cavalleri F., Meletti S., Nichelli P., Pettorelli E., Pinna G., Zunarelli E., Artioli F., Bernardini I., Costa M., Greco G., Guerzoni R., Stucchi C., Iaccarino C., Ragazzi M., Rizzi R., Zuccoli G., Api P., Cartei F., Colella M., Fallica E., Farneti M., Frassoldati A., Granieri E., Latini F., Monetti C., Saletti A., Schivalocchi R., Sarubbo S., Seraceni S., Tola M.R., Zini G., Giorgi C., Montanari E., Cerasti D., Crafa P., Dascola I., Florindo I., Giombelli E., Mazza S., Ramponi V., Servadei F., Silini E.M., Torelli P., Immovilli P., Morelli N., Vanzo C., and Nobile C.
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PERNO ,Gender ,Glioblastoma ,MGMT ,Methylation - Abstract
Background: Clinical and molecular factors are essential to define the prognosis in patients with glioblastoma (GBM). O6-methylguanine-DNA methyltransferase (MGMT) methylation status, age, Karnofsky Performance Status (KPS), and extent of surgical resection are the most relevant prognostic factors. Our investigation of the role of gender in predicting prognosis shows a slight survival advantage for female patients. Methods: We performed a prospective evaluation of the Project of Emilia Romagna on Neuro-Oncology (PERNO) registry to identify prognostic factors in patients with GBM who received standard treatment. Results: A total of 169 patients (99 males [58.6%] and 70 females [41.4%]) were evaluated prospectively. MGMT methylation was evaluable in 140 patients. Among the male patients, 36 were MGMT methylated (25.7%) and 47 were unmethylated (33.6%); among the female patients, 32 were methylated (22.9%) and 25 were unmethylated (17.9%). Survival was longer in the methylated females compared with the methylated males (P = 0.028) but was not significantly different between the unmethylated females and the unmethylated males (P = 0.395). In multivariate analysis, gender and MGMT methylation status considered together (methylated females vs. methylated males; hazard ratio [HR], 0.459; 95% confidence interval [CI], 0.242-0.827; P = 0.017), age (HR, 1.025; 95% CI, 1.002-1.049; P = 0.032), and KPS (HR, 0.965; 95% CI, 0.948-0.982; P < 0.001) were significantly correlated with survival. Conclusions: Survival was consistently longer among MGMT methylated females compared with males. Gender can be considered as a further prognostic factor.
- Published
- 2015
20. The Prognostic Roles of Gender and O6-Methylguanine-DNA Methyltransferase Methylation Status in Glioblastoma Patients: The Female Power
- Author
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Franceschi, Enrico, primary, Tosoni, Alicia, additional, Minichillo, Santino, additional, Depenni, Roberta, additional, Paccapelo, Alexandro, additional, Bartolini, Stefania, additional, Michiara, Maria, additional, Pavesi, Giacomo, additional, Urbini, Benedetta, additional, Crisi, Girolamo, additional, Cavallo, Michele A., additional, Tosatto, Luigino, additional, Dazzi, Claudio, additional, Biasini, Claudia, additional, Pasini, Giuseppe, additional, Balestrini, Damiano, additional, Zanelli, Francesca, additional, Ramponi, Vania, additional, Fioravanti, Antonio, additional, Giombelli, Ermanno, additional, De Biase, Dario, additional, Baruzzi, Agostino, additional, Brandes, Alba A., additional, Baruzzi, A., additional, Albani, F., additional, Calbucci, F., additional, D'Alessandro, R., additional, Michelucci, R., additional, Brandes, A., additional, Eusebi, V., additional, Ceruti, S., additional, Fainardi, E., additional, Tamarozzi, R., additional, Emiliani, E., additional, Cavallo, M., additional, Franceschi, E., additional, Tosoni, A., additional, Fiorica, F., additional, Valentini, A., additional, Depenni, R., additional, Mucciarini, C., additional, Crisi, G., additional, Sasso, E., additional, Biasini, C., additional, Cavanna, L., additional, Guidetti, D., additional, Marcello, N., additional, Pisanello, A., additional, Cremonini, A.M., additional, Guiducci, G., additional, de Pasqua, S., additional, Testoni, S., additional, Agati, R., additional, Ambrosetto, G., additional, Bacci, A., additional, Baldin, E., additional, Baldrati, A., additional, Barbieri, E., additional, Bartolini, S., additional, Bellavista, E., additional, Bisulli, F., additional, Bonora, E., additional, Bunkheila, F., additional, Carelli, V., additional, Crisci, M., additional, Dall'Occa, P., additional, de Biase, D., additional, Ferro, S., additional, Franceschi, C., additional, Frezza, G., additional, Grasso, V., additional, Leonardi, M., additional, Marucci, G., additional, Morandi, L., additional, Mostacci, B., additional, Palandri, G., additional, Pasini, E., additional, Pastore Trossello, M., additional, Pession, A., additional, Poggi, R., additional, Riguzzi, P., additional, Rinaldi, R., additional, Rizzi, S., additional, Romeo, G., additional, Spagnolli, F., additional, Tinuper, P., additional, Trocino, C., additional, Dall'Agata, M., additional, Frattarelli, M., additional, Gentili, G., additional, Giovannini, A., additional, Iorio, P., additional, Pasquini, U., additional, Galletti, G., additional, Guidi, C., additional, Neri, W., additional, Patuelli, A., additional, Strumia, S., additional, Faedi, M., additional, Casmiro, M., additional, Gamboni, A., additional, Rasi, F., additional, Cruciani, G., additional, Cenni, P., additional, Dazzi, C., additional, Guidi, A.R., additional, Zumaglini, F., additional, Amadori, A., additional, Pasini, G., additional, Pasquinelli, M., additional, Pasquini, E., additional, Polselli, A., additional, Ravasio, A., additional, Viti, B., additional, Sintini, M., additional, Ariatti, A., additional, Bertolini, F., additional, Bigliardi, G., additional, Carpeggiani, P., additional, Cavalleri, F., additional, Meletti, S., additional, Nichelli, P., additional, Pettorelli, E., additional, Pinna, G., additional, Zunarelli, E., additional, Artioli, F., additional, Bernardini, I., additional, Costa, M., additional, Greco, G., additional, Guerzoni, R., additional, Stucchi, C., additional, Iaccarino, C., additional, Ragazzi, M., additional, Rizzi, R., additional, Zuccoli, G., additional, Api, P., additional, Cartei, F., additional, Colella, M., additional, Fallica, E., additional, Farneti, M., additional, Frassoldati, A., additional, Granieri, E., additional, Latini, F., additional, Monetti, C., additional, Saletti, A., additional, Schivalocchi, R., additional, Sarubbo, S., additional, Seraceni, S., additional, Tola, M.R., additional, Urbini, B., additional, Zini, G., additional, Giorgi, C., additional, Montanari, E., additional, Cerasti, D., additional, Crafa, P., additional, Dascola, I., additional, Florindo, I., additional, Giombelli, E., additional, Mazza, S., additional, Ramponi, V., additional, Servadei, F., additional, Silini, E.M., additional, Torelli, P., additional, Immovilli, P., additional, Morelli, N., additional, Vanzo, C., additional, and Nobile, C., additional
- Published
- 2018
- Full Text
- View/download PDF
21. Definition and diagnostic criteria of sleep-related hypermotor epilepsy
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Tinuper, P, Bisulli, F, Cross, JH, Hesdorffer, D, Kahane, P, Nobili, L, Provini, F, Scheffer, IE, Tassi, L, Vignatelli, L, Bassetti, C, Cirignotta, F, Derry, C, Gambardella, A, Guerrini, R, Halasz, P, Licchetta, L, Mahowald, M, Manni, R, Marini, C, Mostacci, B, Naldi, I, Parrino, L, Picard, F, Pugliatti, M, Ryvlin, P, Vigevano, F, Zucconi, M, Berkovic, S, Ottman, R, Tinuper, P, Bisulli, F, Cross, JH, Hesdorffer, D, Kahane, P, Nobili, L, Provini, F, Scheffer, IE, Tassi, L, Vignatelli, L, Bassetti, C, Cirignotta, F, Derry, C, Gambardella, A, Guerrini, R, Halasz, P, Licchetta, L, Mahowald, M, Manni, R, Marini, C, Mostacci, B, Naldi, I, Parrino, L, Picard, F, Pugliatti, M, Ryvlin, P, Vigevano, F, Zucconi, M, Berkovic, S, and Ottman, R
- Abstract
The syndrome known as nocturnal frontal lobe epilepsy is recognized worldwide and has been studied in a wide range of clinical and scientific settings (epilepsy, sleep medicine, neurosurgery, pediatric neurology, epidemiology, genetics). Though uncommon, it is of considerable interest to practicing neurologists because of complexity in differential diagnosis from more common, benign sleep disorders such as parasomnias, or other disorders like psychogenic nonepileptic seizures. Moreover, misdiagnosis can have substantial adverse consequences on patients' lives. At present, there is no consensus definition of this disorder and disagreement persists about its core electroclinical features and the spectrum of etiologies involved. To improve the definition of the disorder and establish diagnostic criteria with levels of certainty, a consensus conference using formal recommended methodology was held in Bologna in September 2014. It was recommended that the name be changed to sleep-related hypermotor epilepsy (SHE), reflecting evidence that the attacks are associated with sleep rather than time of day, the seizures may arise from extrafrontal sites, and the motor aspects of the seizures are characteristic. The etiology may be genetic or due to structural pathology, but in most cases remains unknown. Diagnostic criteria were developed with 3 levels of certainty: witnessed (possible) SHE, video-documented (clinical) SHE, and video-EEG-documented (confirmed) SHE. The main research gaps involve epidemiology, pathophysiology, treatment, and prognosis.
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- 2016
22. Expression of 19 microRNAs in glioblastoma and comparison with other brain neoplasia of grades I-III
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Visani, M, de Biase, D, Marucci, G, Cerasoli, S, Nigrisoli, E, Bacchi Reggiani ML, Albani, F, Baruzzi, A, Pession, A, Calbucci, F, D'Alessandro, R, Michelucci, R, Brandes, A, Eusebi, V, Ceruti, S, Fainardi, E, Tamarozzi, R, Emiliani, E, Cavallo, M, Franceschi, E, Tosoni, A, Fiorica, F, Valentini, A, Depenni, R, Mucciarini, C, Crisi, G, Sasso, E, Biasini, C, Cavanna, L, Guidetti, D, Marcello, N, Pisanello, A, Cremonini, Am, Guiducci, G, Agati, R, Ambrosetto, G, Bacci, A, Baldin, E, Baldrati, A, Barbieri, E, Bartolini, S, Bellavista, E, Bisulli, F, Bonora, E, Bunkheila, F, Carelli, V, Crisci, M, Dall'Occa, P, Ferro, S, Franceschi, C, Frezza, G, Grasso, V, Leonardi, M, Morandi, L, Mostacci, B, Palandri, G, Pasini, E, Pastore Trossello, M, Poggi, R, Riguzzi, P, Rinaldi, R, Rizzi, S, Romeo, G, Spagnolli, F, Tinuper, P, Trocino, C, Dall'Agata, M, Frattarelli, M, Gentili, G, Giovannini, A, Iorio, P, Pasquini, U, Galletti, G, Guidi, C, Neri, W, Patuelli, A, Strumia, S, Faedi, M, Casmiro, M, Gamboni, A, Rasi, F, Cruciani, G, Cenni, P, Dazzi, C, Guidi, Ar, Zumaglini, F, Amadori, A, Pasini, G, Pasquinelli, M, Pasquini, E, Polselli, A, Ravasio, A, Viti, B, Sintini, M, Ariatti, A, Bertolini, F, Bigliardi, G, Carpeggiani, P, Cavalleri, F, Meletti, S, Nichelli, P, Pettorelli, E, Pinna, G, Zunarelli, E, Artioli, F, Bernardini, I, Costa, M, Greco, G, Guerzoni, R, Stucchi, C, Iaccarino, C, Ragazzi, M, Rizzi, R, Zuccoli, G, Api, P, Cartei, F, Fallica, E, Granieri, E, Latini, F, Lelli, G, Monetti, C, Saletti, A, Schivalocchi, R, Seraceni, S, Tola, Mr, Urbini, B, Giorgi, C, Montanari, E, Cerasti, D, Crafa, P, Dascola, I, Florindo, I, Giombelli, E, Mazza, S, Ramponi, V, Servadei, F, Silini, Em, Torelli, P, Immovilli, P, Morelli, N, Vanzo, C, Nobile, C, Michela Visani, Dario de Biase, Gianluca Marucci, Serenella Cerasoli, Evandro Nigrisoli, Maria Letizia Bacchi Reggiani, Fiorenzo Albani, Agostino Baruzzi, Annalisa Pession, the PERNO study group [, Elena Bonora, and ]
- Subjects
Adult ,Male ,Cancer Research ,Low-grade brain tumor ,Brain neoplasia ,Glioblastoma ,Low-grade brain tumors ,MicroRNA ,Real-time PCR ,Aged ,Brain Neoplasms ,Female ,Gene Expression Profiling ,Humans ,MicroRNAs ,Middle Aged ,Neoplasm Grading ,RNA, Neoplasm ,Gene Expression Regulation, Neoplastic ,Genetics ,Molecular Medicine ,Biology ,Bioinformatics ,medicine.disease_cause ,NO ,Brain Neoplasm ,Genetic ,microRNA ,medicine ,Locked nucleic acid ,MicroRNA, Glioblastoma, Brain neoplasia, Low-grade brain tumors, Real-time PCR ,Cancer ,General Medicine ,medicine.disease ,Molecular medicine ,Fold change ,Gene expression profiling ,Real-time polymerase chain reaction ,Oncology ,Cancer research ,Carcinogenesis ,Corrigendum ,Human - Abstract
Several biomarkers have been proposed as useful parameters to better specify the prognosis or to delineate new target therapy strategies for glioblastoma patients. MicroRNAs could represent putative target molecules, considering their role in tumorigenesis, cancer progression and their specific tissue expression. Although several studies have tried to identify microRNA signature for glioblastoma, a microRNA profile is still far from being well-defined. In this work the expression of 19 microRNAs (miR-7, miR-9, miR-9∗, miR-10a, miR-10b, miR-17, miR-20a, miR-21, miR-26a, miR-27a, miR-31, miR-34a, miR-101, miR-137, miR-182, miR-221, miR-222, miR-330, miR-519d) was evaluated in sixty formalin-fixed and paraffin-embedded glioblastoma samples using a locked nucleic acid real-time PCR. Moreover, a comparison of miRNA expressions was performed between primary brain neoplasias of different grades (grades IV-I). The analysis of 14 validated miRNA expression in the 60 glioblastomas, using three different non-neoplastic references as controls, revealed a putative miRNA signature: mir-10b and miR-21 were up-regulated, while miR-7, miR-31, miR-101, miR-137, miR-222 and miR-330 were down-regulated in glioblastomas. Comparing miRNA expression between glioblastoma group and gliomas of grades I-III, 3 miRNAs (miR-10b, mir-34a and miR-101) showed different regulation statuses between high-grade and low-grade tumors. miR-10b was up-regulated in high grade and significantly down-regulated in low-grade gliomas, suggesting that could be a candidate for a GBM target therapy. This study provides further data for the identification of a miRNA profile for glioblastoma and suggests that different-grade neoplasia could be characterized by different expression of specific miRNAs.
- Published
- 2014
23. EPILESSIA FARMACORESISTENTE CON CRISI IPERMOTORIE E ANOMALIE STRUTTURALI DEL LOBO TEMPORALE. EPILESSIA FRONTALE O TEMPORALE?
- Author
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CANTALUPO, GAETANO, GARDELLA, ELENA, DI STASI, VITANTONIO, ALESSANDRIA, MARIA, TASSINARI, CARLO ALBERTO, RUBBOLI G., TASSI L., MOSTACCI B., VEDOVELLO M., MICHELUCCI R., VOLPI L., RIGUZZI P., CANTALUPO G., RUBBOLI G., TASSI L., GARDELLA E., MOSTACCI B., DI STASI V., VEDOVELLO M., ALESSANDRIA M., MICHELUCCI R., VOLPI L., RIGUZZI P., and TASSINARI CA.
- Published
- 2006
24. Erratum to: Survival prediction in high-grade gliomas using CT perfusion imaging
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Yeung, Tp, Wang, Y, He, W, Urbini, B, Gafà, R, Ulazzi, L, Yartsev, S, Bauman, G, Lee TY, Fainardi, E, Project of Emilia-Romagna Region on Neuro-Oncology (PERNO) Study Group Participants :Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall’Occa, P., de Biase, D., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Marucci, G., Morandi, L., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Pession, A., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., (Bologna), Trocino C., Dall’Agata, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., (Forlı`-Cesena), Strumia S., Faedi, M., (IRCCS Istituto Scientifico Romagnolo per lo Studio, e la Cura dei Tumori), Casmiro, M., Gamboni, A., Rasi, F. (Faenza R. A. )., (Lugo, Cruciani G., RA), Cenni, P., Dazzi, C., Guidi, A. R., (Ravenna), Zumaglini F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., (Rimini), Viti B., (Cattolica, Sintini M., RN), Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., (Modena), Zunarelli E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C. (Carpi M. O. )., Iaccarino, C, Ragazzi, M., Rizzi, R., (Istituto di Ricovero e Cura a Carattere Scientifico, Zuccoli G., Reggio, Emilia), Api, P., Cartei, F., Colella, M., Fallica, E., Farneti, M., Frassoldati, A., Granieri, E., Latini, F., Monetti, C., Saletti, A., Schivalocchi, R., Sarubbo, S., Seraceni, S., Tola, M. R., Urbini, B., (Ferrara), Zini G., Giorgi, C., Montanari, E. (Fidenza P. R. )., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, Em., (Parma), Torelli P., Immovilli, P., Morelli, N., (Piacenza), Vanzo C., and Nobile, C. (Padova).
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Cancer Research ,medicine.medical_specialty ,Neuroradiology unit ,Neurology ,Oncology ,business.industry ,General surgery ,Medicine ,Neurology (clinical) ,business - Abstract
Baruzzi A. (Chair), Albani F., Calbucci F., D’Alessandro R., Michelucci R. (IRCCS Institute of Neurological Sciences, Bologna, Italy), Brandes A. (Department of Medical Oncology, Bellaria-Maggiore Hospitals, Bologna, Italy), Eusebi V. (Department of Hematology and Oncological Sciences ‘‘L. & A. Seragnoli’’, Section of Anatomic Pathology at Bellaria Hospital, Bologna, Italy), Ceruti S., Fainardi E., Tamarozzi R. (Neuroradiology Unit, Department of Neurosciences and Rehabilitation, S. Anna Hospital, Ferrara, Italy), Emiliani E. (Istituto Oncologico Romagnolo, Department of Medical Oncology, Santa Maria delle Croci Hospital, Ravenna, Italy), Cavallo M. (Division of Neurosurgery, Department of Neurosciences and Rehabilitation, S. Anna Hospital, Ferrara, Italy).
- Published
- 2015
25. Definition of miRNAs Expression Profile in Glioblastoma Samples: The Relevance of Non-Neoplastic Brain Reference
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Visani, Michela, De Biase, Dario, Marucci, Gianluca, Taccioli, Cristian, Baruzzi, Agostino, Pession, Annalisa, Baruzzi, A., Albani, F., Calbucci, F., D'alessandro, R., Michelucci, R., Brandes, A., Eusebieusebi, V., Ceruti, S., Fainardi, E., Tamarozzi, R., Emiliani, E., Cavallo, M., Franceschi, E., Tosoni, A., Fiorica, F., Valentini, A., Depenni, R., Mucciarini, C., Crisi, G., Sasso, E., Biasini, C., Cavanna, L., Guidetti, D., Marcello, N., Pisanello, A., Cremonini, A. M., Guiducci, G., De Pasqua, S., Testoni, S., Agati, R., Ambrosetto, G., Bacci, A., Baldin, E., Baldrati, A., Barbieri, E., Bartolini, S., Bellavista, E., Bisulli, F., Bonora, E., Bunkheila, F., Carelli, V., Crisci, M., Dall'occa, P., Ferro, S., Franceschi, C., Frezza, G., Grasso, V., Leonardi, M., Mostacci, B., Palandri, G., Pasini, E., Pastore Trossello, M., Poggi, R., Riguzzi, P., Rinaldi, R., Rizzi, S., Romeo, G., Spagnolli, F., Tinuper, P., Trocino, C., Cerasoli, S., Dall'agata, M., Faedi, M., Frattarelli, M., Gentili, G., Giovannini, A., Iorio, P., Pasquini, U., Galletti, G., Guidi, C., Neri, W., Patuelli, A., Strumia, S., Casmiro, M., Gamboni, A., Rasi, F., Cruciani, G., Cenni, P., Dazzi, C., Guidi, A. R., Zumaglini, F., Amadori, A., Pasini, G., Pasquinelli, M., Pasquini, E., Polselli, A., Ravasio, A., Viti, B., Sintini, M., Ariatti, A., Bertolini, F., Bigliardi, G., Carpeggiani, P., Cavalleri, F., Meletti, S., Nichelli, P., Pettorelli, E., Pinna, G., Zunarelli, E., Artioli, F., Bernardini, I., Costa, M., Greco, G., Guerzoni, R., Stucchi, C., Iaccarino, C., Ragazzi, M., Rizzi, R., Zuccoli, G., Api, P., Cartei, F., Fallica, E., Granieri, E., Latini, F., Lelli, G., Monetti, C., Saletti, A., Schivalocchi, R., Seraceni, S., Tola, M. R., Urbini, B., Giorgi, C., Montanari, E., Cerasti, D., Crafa, P., Dascola, I., Florindo, I., Giombelli, E., Mazza, S., Ramponi, V., Servadei, F., Silini, E. M., Torelli, P., Immovilli, P., Morelli, N., Vanzo, C., Nobile, C., M. Visani, D. de Biase, G. Marucci, C. Taccioli, A. Baruzzi, A. Pession, Perno Study Group, F. Albani, V. Eusebi, F. Bisulli, V. Carelli, M. Leonardi, B. Mostacci, P. Tinuper, the PERNO Study group [, E. Bonora, and ]
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Male ,Genetics and Molecular Biology (all) ,Adult ,Aged ,Brain ,Female ,Gene Expression Profiling ,Gene Expression Regulation, Neoplastic ,Glioblastoma ,Humans ,MicroRNAs ,Middle Aged ,Real-Time Polymerase Chain Reaction ,Reference Values ,Statistics, Nonparametric ,Biochemistry, Genetics and Molecular Biology (all) ,Agricultural and Biological Sciences (all) ,Gene Expression ,Bioinformatics ,Biochemistry ,Surgical oncology ,Nucleic Acids ,metabolism, Female, Gene Expression Profiling ,Molecular Cell Biology ,Basic Cancer Research ,Gene expression ,normal adjacent the tumor ,Neurological Tumors ,methods, Gene Expression Regulation ,brain tumors, glioblastoma, miRNAs ,Multidisciplinary ,Cancer Risk Factors ,Medicine (all) ,Statistics ,non-neoplastic brain ,Real-time polymerase chain reaction ,Oncology ,miRNAs ,Medicine ,DNA microarray ,brain RNA commercial reference ,Research Article ,Adult, Aged, Brain ,Neoplastic ,genetics/physiology, Glioblastoma ,metabolism, Humans, Male, MicroRNAs ,metabolism, Middle Aged, Real-Time Polymerase Chain Reaction, Reference Values, Statistics ,Nonparametric ,Science ,Brain tumor ,Biology ,NO ,Molecular Genetics ,epileptic tissue ,Text mining ,microRNA ,medicine ,miRNA ,business.industry ,Computational Biology ,Cancers and Neoplasms ,medicine.disease ,Gene expression profiling ,Gene Expression Regulation ,Cancer research ,RNA ,brain tumors ,metabolism, Middle Aged, Real-Time Polymerase Chain Reaction, Reference Values, Statistic ,business ,metabolism, Humans, Male, MicroRNA ,Glioblastoma Multiforme - Abstract
Glioblastoma is the most aggressive brain tumor that may occur in adults. Regardless of the huge improvements in surgery and molecular therapy, the outcome of neoplasia remains poor. MicroRNAs are small molecules involved in several cellular processes, and their expression is altered in the vast majority of tumors. Several studies reported the expression of different miRNAs in glioblastoma, but one of the most critical point in understanding glioblastoma miRNAs profile is the comparison of these studies. In this paper, we focused our attention on the non-neoplastic references used for determining miRNAs expression. The aim of this study was to investigate if using three different non-neoplastic brain references (normal adjacent the tumor, commercial total RNA, and epileptic specimens) could provide discrepant results. The analysis of 19 miRNAs was performed using Real-Time PCR, starting from the set of samples described above and the expression values compared. Moreover, the three different normal RNAs were used to determine the miRNAs profile in 30 glioblastomas. The data showed that different non-neoplastic controls could lead to different results and emphasize the importance of comparing miRNAs profiles obtained using the same experimental condition.
- Published
- 2013
26. Assenze ad esordio precoce: una sindrome isolata? Studio collaborativo LICE su 33 casi
- Author
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Galli, Jessica, Pezzella, M, Accorsi, P, Vignoli, A, Zara, F, Striano, P, Giordano L. e, Gruppo collaborativo LICE (Baglietto MG, Beccaria, F, Capovilla, G, Cerminara, C, Pinci, M, Del Giudice, E, Crichiutti, G, Bisulli, F, Mostacci, B, Tinuper, P, Coppola, A, Stirano, S, Calzolari, S, Briatore, E, Canevini, Mp, Sgro, V, Battaglia, S, Bettera, F, Gambara, S, Fazzi, Elisa Maria, and Tiberti, A.
- Published
- 2011
27. Pattern of care and effectiveness of treatment for glioblastoma patients in the real world: Results from a prospective population-based registry. Could survival differ in a high-volume center?
- Author
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Brandes, Alba A., primary, Franceschi, Enrico, additional, Ermani, Mario, additional, Tosoni, Alicia, additional, Albani, Fiorenzo, additional, Depenni, Roberta, additional, Faedi, Marina, additional, Pisanello, Anna, additional, Crisi, Girolamo, additional, Urbini, Benedetta, additional, Dazzi, Claudio, additional, Cavanna, Luigi, additional, Mucciarini, Claudia, additional, Pasini, Giuseppe, additional, Bartolini, Stefania, additional, Marucci, Gianluca, additional, Morandi, Luca, additional, Zunarelli, Elena, additional, Cerasoli, Serenella, additional, Gardini, Giorgio, additional, Lanza, Giovanni, additional, Silini, Enrico Maria, additional, Cavuto, Silvio, additional, Baruzzi, Agostino, additional, Baruzzi, A., additional, Albani, F., additional, Calbucci, F., additional, D'Alessandro, R., additional, Michelucci, R., additional, Brandes, A., additional, Eusebi, V., additional, Ceruti, S., additional, Fainardi, E., additional, Tamarozzi, R., additional, Emiliani, E., additional, Cavallo, M., additional, Franceschi, E., additional, Tosoni, A., additional, Fiorica, F., additional, Valentini, A., additional, Depenni, R., additional, Mucciarini, C., additional, Crisi, G., additional, Sasso, E., additional, Biasini, C., additional, Cavanna, L., additional, Guidetti, D., additional, Marcello, N., additional, Pisanello, A., additional, Cremonini, A.M., additional, Guiducci, G., additional, de Pasqua, S., additional, Testoni, S., additional, Agati, R., additional, Ambrosetto, G., additional, Bacci, A., additional, Baldin, E., additional, Baldrati, A., additional, Barbieri, E., additional, Bartolini, S., additional, Bellavista, E., additional, Bisulli, F., additional, Bonora, E., additional, Bunkheila, F., additional, Carelli, V., additional, Crisci, M., additional, Dall'Occa, P., additional, de Biase, D., additional, Ferro, S., additional, Franceschi, C., additional, Frezza, G., additional, Grasso, V., additional, Leonardi, M., additional, Marucci, G., additional, Mazzocchi, V., additional, Morandi, L., additional, Mostacci, B., additional, Palandri, G., additional, Pasini, E., additional, Pastore Trossello, M., additional, Pession, A., additional, Ragazzi, M., additional, Riguzzi, P., additional, Rinaldi, R., additional, Rizzi, S., additional, Romeo, G., additional, Spagnolli, F., additional, Tinuper, P., additional, Trocino, C., additional, Cerasoli, S., additional, Dall'Agata, M., additional, Faedi, M., additional, Frattarelli, M., additional, Gentili, G., additional, Giovannini, A., additional, Iorio, P., additional, Pasquini, U., additional, Galletti, G., additional, Guidi, C., additional, Neri, W., additional, Patuelli, A., additional, Strumia, S., additional, Casmiro, M., additional, Gamboni, A., additional, Rasi, F., additional, Cruciani, G., additional, Cenni, P., additional, Dazzi, C., additional, Guidi, AR., additional, Zumaglini, F., additional, Amadori, A., additional, Pasini, G., additional, Pasquinelli, M., additional, Pasquini, E., additional, Polselli, A., additional, Ravasio, A., additional, Viti, B., additional, Sintini, M., additional, Ariatti, A., additional, Bertolini, F., additional, Bigliardi, G., additional, Carpeggiani, P., additional, Cavalleri, F., additional, Meletti, S., additional, Nichelli, P., additional, Pettorelli, E., additional, Pinna, G., additional, Zunarelli, E., additional, Artioli, F., additional, Bernardini, I., additional, Costa, M., additional, Greco, G., additional, Guerzoni, R., additional, Stucchi, C., additional, Iaccarino, C., additional, Rizzi, R., additional, Zuccoli, G., additional, Api, P., additional, Cartei, F., additional, Fallica, E., additional, Granieri, E., additional, Latini, F., additional, Lelli, G., additional, Monetti, C., additional, Ramponi, V., additional, Saletti, A., additional, Schivalocchi, R., additional, Seraceni, S., additional, Tola, M.R., additional, Urbini, B., additional, Giorgi, C., additional, Montanari, E., additional, Cerasti, D., additional, Crafa, P., additional, Dascola, I., additional, Florindo, I., additional, Mazza, S., additional, Servadei, F., additional, Silini, EM., additional, Torelli, P., additional, Immovilli, P., additional, Morelli, N., additional, and Vanzo, C., additional
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- 2014
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28. Italian version of the Epworth sleepiness scale: External validity
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Vignatelli, L. A., Plazzi, G. A., Barbato, A. S., Ferini, Strambi, Bi, L., Manni, R. S., Pompei, F. S., D'Alessandro, R. A., Brancasi, B. C., Misceo, S. C., Puca, F. C., Savarese, M. C., Servalli, C. D., Ubiali, E. D., Viscardi, M. D., Vetrugno, R. A., Buzzi, G. E., Cirignotta, F. E., Mostacci, B. E., Sancisi, E. E., Fassari, V. F., Scrofani, A. F., Beelke, M. G., Ferrillo, F. G., Nobili, L. G., Costa, C. H., Di Perri, R. H., Raffaele, M. H., Landi, C. I., Rossi, M. J., Spaggiari, C. J., Terzano, M. G. J., Manni, R. K., Sartori, I. K., Zanotta, N. K., Bonnani, E. L., Indice, A. L., Murri, L. L., Guazzelli, M. M., Palagini, L. M., Panicucci, P. M., Antonini, Giovanni, Bruni, O. N., Ceschini, V. N., Gragnani, F. N., Miano, S. N., Della Marca, G. O., Farina, B. O., Mennuni, G. F. O., Cosentino, F. P., Ferri, R. P., Bergonzi, P. Q., Marinig, R. Q., Pauletto, G. Q., Dolso, P. L. R., Gigli, Servalli, G. L., Ubiali, C. D., Viscardi, E. D., Vetrugno, M. D., Buzzi, R. A., Cirignotta, G. E., Mostacci, F. E., Sancisi, B. E., Fassari, E. E., Scrofani, V. F., Beelke, A. F., Ferrillo, M. G., Nobili, F. G., Costa, L. G., Di Perri, C. H., Raffaele, R. H., Landi, M. H., Rossi, C. I., Spaggiari, M. J., Terzano, C. J., Manni, M. G. J., Sartori, R. K., Zanotta, I. K., Bonnani, N. K., Indice, E. L., Murri, A. L., Guazzelli, L. L., Palagini, M. M., Panicucci, L. M., Antonini, G., and Gigli, G. L.
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Multiple Sleep Latency Test ,Adult ,Male ,medicine.medical_specialty ,Adolescent ,Polysomnography ,Excessive daytime sleepiness ,specificity ,Context (language use) ,Dermatology ,Disorders of Excessive Somnolence ,External validity ,Surveys and Questionnaires ,medicine ,Humans ,Epworth sleepiness scale ,Multiple sleep latency test ,Questionnaires validation ,ROC curve ,Sensitivity ,Specificity ,Aged ,Female ,Italy ,Middle Aged ,ROC Curve ,Sleep ,Wakefulness ,2708 ,Neurology (clinical) ,Psychiatry and Mental Health ,epworth sleepiness scale ,medicine.diagnostic_test ,Epworth Sleepiness Scale ,excessive daytime sleepiness ,multiple sleep latency test ,questionnaires validation ,roc curve ,sensitivity ,General Medicine ,medicine.disease ,Obstructive sleep apnea ,Psychiatry and Mental health ,Physical therapy ,medicine.symptom ,Psychology ,Narcolepsy - Abstract
We assessed the validity of an Italian language version of the Epworth sleepiness scale (ESS). The translated ESS was compared to the multiple sleep latency test (MSLT), considered the gold standard for the diagnosis of excessive daytime sleepiness (EDS). Within the context of a multicentric national study on narcolepsy (Gruppo Italiano Narcolessia Studio Epidemiologico Nazionale, GINSEN) involving 17 Italian sleep centres, we compared the two diagnostic tests on 91 prospectively recruited subjects with suspected EDS (34 with narcolepsy, 16 with obstructive sleep apnea syndrome, 19 with idiopathic hypersomnia, and 22 with other sleep, neurologic or psychiatric disorders). ESS scores were inversely correlated with mean sleep latency values, as measured with MSLT (rho = −0.31, p
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- 2003
29. Sleep quality and motor vehicle crashes in adolescents
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Pizza, F, Contardi, S, Antognini, A, Zagoraiou, M, Borrotti, M, Mostacci, B, Mondini, S, Cirignotta, F, Pizza, Fabio, Contardi, Sara, Antognini, Alessandro Baldi, Zagoraiou, Maroussa, Borrotti, Matteo, Mostacci, Barbara, Mondini, Susanna, Cirignotta, Fabio, Pizza, F, Contardi, S, Antognini, A, Zagoraiou, M, Borrotti, M, Mostacci, B, Mondini, S, Cirignotta, F, Pizza, Fabio, Contardi, Sara, Antognini, Alessandro Baldi, Zagoraiou, Maroussa, Borrotti, Matteo, Mostacci, Barbara, Mondini, Susanna, and Cirignotta, Fabio
- Abstract
Study objectives: Sleep-related complaints are common in adolescents, but their impact on the rate of motor vehicle crashes accidents is poorly known. We studied subjective sleep quality, driving habits, and self-reported car crashes in high-school adolescents. Methods: Self-administered questionnaires (with items exploring driving habits) were distributed to 339 students who had a driver's license and attended 1 of 7 high schools in Bologna, Italy. Statistical analysis were performed to describe lifestyle habits, sleep quality, sleepiness, and their relationship with the binary dependent variable (presence or absence of car crashes) to identify the factors significantly affecting the probability of car crashes in a multivariate binary logistic regression model. Results: Nineteen percent of the sample reported bad sleep, 64% complained of daytime sleepiness, and 40% reported sleepiness while driving. Eighty students (24%), 76% of which were males, reported that they had already crashed at least once, and 15% considered sleepiness to have been the main cause of their crash. As compared with adolescents who had not had a crash, those who had at least 1 previous crash reported that they more frequently used to drive (79% vs 62%), drove at night (25% vs 9%), drove while sleepy (56% vs 35%), had bad sleep (29% vs 16%), and used stimulants such as caffeinated soft drinks (32% vs 19%), tobacco (54% vs 27%), and drugs (21% vs 7%). The logistic procedure established a significant predictive role of male sex (p < 0.0001; odds ratio = 3.3), tobacco use (p < 0.0001; odds ratio = 3.2), sleepiness while driving (p = 0.010; odds ratio = 2.1), and bad sleep (p = 0.047; odds ratio = 1.9) for the crash risk. Conclusions: Our results confirm the high prevalence of sleep-related complaints among adolescents and highlight their independent role on self-reported crash risk
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- 2010
30. Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study
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Lodi, R., primary, Parchi, P., additional, Tonon, C., additional, Manners, D., additional, Capellari, S., additional, Strammiello, R., additional, Rinaldi, R., additional, Testa, C., additional, Malucelli, E., additional, Mostacci, B., additional, Rizzo, G., additional, Pierangeli, G., additional, Cortelli, P., additional, Montagna, P., additional, and Barbiroli, B., additional
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- 2009
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31. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus
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Morgia, C. L., primary, Achilli, A., additional, Iommarini, L., additional, Barboni, P., additional, Pala, M., additional, Olivieri, A., additional, Zanna, C., additional, Vidoni, S., additional, Tonon, C., additional, Lodi, R., additional, Vetrugno, R., additional, Mostacci, B., additional, Liguori, R., additional, Carroccia, R., additional, Montagna, P., additional, Rugolo, M., additional, Torroni, A., additional, and Carelli, V., additional
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- 2008
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32. Unreliability of automatic scoring of MESAM 4 in assessing patients with complicated obstructive sleep apnea syndrome.
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Cirignotta, Fabio, Mondini, Susanna, Gerardi, Roberto, Mostacci, Barbara, Sancisi, Elisa, Cirignotta, F, Mondini, S, Gerardi, R, Mostacci, B, and Sancisi, E
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SLEEP apnea syndromes ,OUTPATIENT medical care - Abstract
Background: Portable devices are used for unattended recording of patients with suspected obstructive sleep apnea syndrome (OSAS). The MESAM 4 (MAP; Martinsried, Germany) is a computerized ambulatory polysomnographic system that records four parameters: breathing noise, heart rate, arterial oxygen saturation (SaO(2)), and body position.Design and Method: We evaluated the reliability of the oxygen desaturation index (ODI) automatically calculated by the MESAM 4 device in evaluating patients with "complicated" OSAS. These patients present SaO(2) drops due to apneas associated with a fall in baseline SaO(2) during sleep, as occurs in the "overlap syndrome." Ten patients with complicated OSAS underwent nocturnal MESAM 4 recordings, and we compared the visual and automatic scorings of the ODI.Results: The ODI obtained with visual scoring was significantly higher than ODI automatically calculated by the MESAM 4 in all patients. In some patients, this difference was so significant that it could bias clinical judgment of OSAS severity. We demonstrated that the system did not identify those desaturation events that were superimposed on a fall in baseline SaO(2). The error depends on the algorithm by which the device recognizes the desaturation events and calculates the baseline SaO(2).Conclusion: Automatic analysis of MESAM 4 recordings may be misleading in evaluating OSAS patients who have a fall in baseline SaO(2) during sleep. In this case, visual scoring performed by a trained polysomnographer is recommended. [ABSTRACT FROM AUTHOR]- Published
- 2001
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33. Levetiracetam and liver: Is there a problem?,Levetiracetam e indici di funzionalità epatica: Nessun problema?
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Broli, M., Provini, F., Naldi, I., Bisulli, F., Pittau, F., Licchetta, L., Stipa, C., Mostacci, B., Sama, C., ROBERTO RIVA, Baruzzi, A., and Tinuper, P.
34. Preconception counseling, pregnancy planning, maternal-fetal health and breastfeeding in women with epilepsy. Experience in a tertiary referral center | Counselling preconcezionale, programmazione della gravidanza, salute materno-fetale e allattamento nelle donne con epilessia. L'esperienza di un centro di terzo livello
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Mostacci, B., Fratangelo, L., Francesca Bisulli, Ambrosetto, G., Avoni, P., Provini, F., Naldi, I., Leta, C., and Tinuper, P.
35. Brain magnetic resonance spectroscopic imaging (1H-MRSI) in patients with large areas of subcortical heterotopia and epilepsy | Studio con spettroscopia di risonanza magnetica cerebrale ( 1H-MRS) in pazienti con vaste aree di eterotopia sottocorticale ed epilessia
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Mostacci, B., Francesca Bisulli, Tonon, C., Lodi, R., Barbiroli, B., Oppi, F., Gallassi, R., Naldi, I., Baruzzi, A., and Tinuper, P.
36. Care of epilepsy patients in general practice: A survey of the Bologna area | L'assistenza al paziente con epilessia nell'ambulatorio di medicina generale: Risultati di un questionario conoscitivo
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Mostacci, B., Broli, M., Bisulli, F., FABIO PIZZA, D Alessandro, R., Baruzzi, A., and Tinuper, P.
37. Levetiracetam and liver: Is there a problem? | Levetiracetam e indici di funzionalità epatica: Nessun problema?
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Broli, M., Provini, F., Naldi, I., Francesca Bisulli, Pittau, F., Licchetta, L., Stipa, C., Mostacci, B., Sama, C., Riva, R., Baruzzi, A., and Tinuper, P.
38. Tobacco habits in nocturnal frontal lobe epilepsy | Abitudine al fumo in pazienti con epilessia frontale notturna
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Naldi, I., Bisulli, F., Vignatelli, L., Licchetta, L., Francesca PITTAU, Stipa, C., Mostacci, B., Di Vito, L., Capannelli, D., Provini, F., Montagna, P., and Tinuper, P.
39. Brain magnetic resonance spectroscopic imaging (1H-MRSI) in patients with large areas of subcortical heterotopia and epilepsy,Studio con spettroscopia di risonanza magnetica cerebrale ( 1H-MRS) in pazienti con vaste aree di eterotopia sottocorticale ed epilessia
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Mostacci, B., Bisulli, F., Tonon, C., Lodi, R., Barbiroli, B., FEDERICO OPPI, Gallassi, R., Naldi, I., Baruzzi, A., and Tinuper, P.
40. Ictal asystole: Description of four cases before and after pace-maker implantation | Asistolia critica: Descrizione di quattro casi prima e dopo impianto di pace-maker
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Naldi, I., Bisulli, F., Mostacci, B., Leta, C., Provini, F., Ribani, A., Cortelli, P., and paolo tinuper
41. Risk of hospitalization and death for <scp>COVID</scp> ‐19 in persons with epilepsy over a 20‐month period: The <scp>EpiLink</scp> Bologna cohort, Italy
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Lorenzo Muccioli, Corrado Zenesini, Lisa Taruffi, Laura Licchetta, Barbara Mostacci, Lidia Di Vito, Elena Pasini, Lilia Volpi, Patrizia Riguzzi, Lorenzo Ferri, Flavia Baccari, Francesco Nonino, Roberto Michelucci, Paolo Tinuper, Luca Vignatelli, Francesca Bisulli, Muccioli L., Zenesini C., Taruffi L., Licchetta L., Mostacci B., Di Vito L., Pasini E., Volpi L., Riguzzi P., Ferri L., Baccari F., Nonino F., Michelucci R., Tinuper P., Vignatelli L., and Bisulli F.
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Adult ,Male ,Epilepsy ,COVID-19 ,antiseizure medication (ASM) ,Comorbidity ,Middle Aged ,mortality ,Cohort Studies ,Hospitalization ,epileptic encephalopathy ,Neurology ,outcome ,Humans ,epidemiology ,Female ,Neurology (clinical) ,Cohort Studie ,Human - Abstract
Objective: Data on COVID-19 outcomes in persons with epilepsy (PWE) are scarce and inconclusive. We aimed to study the risk of hospitalization and death for COVID-19 in a large cohort of PWE from March 1, 2020 to October 31, 2021. Methods: The historical cohort design (EpiLink Bologna) compared adult PWE grouped into people with focal epilepsy (PFE), idiopathic generalized epilepsy (PIGE), and developmental and/or epileptic encephalopathy (PDEE), and a population cohort matched (ratio 1:10) for age, sex, residence, and comorbidity (assessed with the multisource comorbidity score), living in the local health trust of Bologna (approximately 800 000 residents). Clinical data were linked to health administrative data. Results: In both cohorts (EpiLink: n=1575 subjects, 1128 PFE, 267 PIGE, 148 PDEE, 32 other; controls: n=15 326 subjects), 52% were females, and the mean age was 50 years (SD=18). Hospital admissions for COVID-19 in the whole period were 49 (3.1%) in PWE and 225 (1.5%) in controls. The adjusted hazard ratio (aHR) in PWE was 1.9 (95% confidence interval [CI] = 1.4–2.7). The subgroups at higher risk were PFE (aHR=1.9, 95% CI=1.3–2.8) and PDEE (aHR=3.9, 95% CI=1.7–8.7), whereas PIGE had a risk comparable to the controls (aHR=1.1, 95% CI =.3–3.5). Stratified analyses of the two main epidemic waves (March–May 2020, October 2020–May 2021) disclosed a higher risk of COVID-19-related hospitalization during the first epidemic wave (March–May 2020; aHR=3.8, 95% CI=2.2–6.7). Polytherapy with antiseizure medications contributed to a higher risk of hospital admission. Thirty-day risk of death after hospitalization was 14% in both PWE and controls. Significance: During the first 20 months since the outbreak of COVID-19 in Bologna, PWE had a doubled risk of COVID-19 hospital admission compared to a matched control population. Conversely, epilepsy did not represent a risk factor for COVID-19-related death.
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- 2022
42. Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis
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Laura Licchetta, Lorenzo Muccioli, Federica Pondrelli, Francesca Bisulli, Luca Vignatelli, Paolo Tinuper, Corrado Zenesini, Barbara Mostacci, Pondrelli F., Muccioli L., Licchetta L., Mostacci B., Zenesini C., Tinuper P., Vignatelli L., and Bisulli F.
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medicine.medical_specialty ,Adolescent ,Prognosi ,MEDLINE ,Progressive myoclonus epilepsy ,Lafora disease ,Internal medicine ,Humans ,Medicine ,Pharmacology (medical) ,Child ,Survival rate ,Genetics (clinical) ,Proportional hazards model ,business.industry ,Research ,Individual participant data ,Clinical course ,General Medicine ,Prognosis ,medicine.disease ,Natural history ,Lafora Disease ,Meta-analysis ,medicine.symptom ,business ,Myoclonus ,Human - Abstract
BackgroundLafora disease (LD) is a rare fatal autosomal recessive form of progressive myoclonus epilepsy. It affects previously healthy children or adolescents, causing pharmacoresistant epilepsy, myoclonus and severe psychomotor deterioration. This work aims to describe the clinical course of LD and identify predictors of outcome by means of a prognostic systematic review with individual participant data meta-analysis.MethodsA search was conducted on MEDLINE and Embase with no restrictions on publication date. Only studies reporting genetically confirmed LD cases were included. Kaplan–Meier estimate was used to assess probability of death and loss of autonomy. Univariable and multivariable Cox regression models with mixed effects (clustered survival data) were performed to evaluate prognostic factors.ResultsSeventy-three papers describing 298 genetically confirmed LD cases were selected. Mean age at disease onset was 13.4 years (SD 3.7), with 9.1% aged ≥ 18 years. Overall survival rates in 272 cases were 93% [95% CI 89–96] at 5 years, 62% [95% CI 54–69] at 10 years and 57% [95% CI 49–65] at 15 years. Median survival time was 11 years. The probability of loss of autonomy in 110 cases was 45% [95% CI 36–55] at 5 years, 75% [95% CI 66–84] at 10 years, and 83% [95% CI 74–90] at 15 years. Median loss of autonomy time was 6 years. Asian origin and age at onset ConclusionsThis study documented that half of patients survived at least 11 years. The notion of actual survival rate and prognostic factors is crucial to design studies on the effectiveness of upcoming new disease-modifying therapies.
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- 2021
43. Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
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Leonardo Caporali, Lara Alvisi, Daniela Fulitano, Barbara Mostacci, Raffaella Minardi, Valerio Carelli, Chiara La Morgia, Patrizia Avoni, Lorenzo Ferri, Rocco Liguori, Paolo Tinuper, Corrado Zenesini, Francesca Bisulli, Maria Lucia Valentino, Lidia Di Vito, Laura Licchetta, Licchetta L., Ferri L., La Morgia C., Zenesini C., Caporali L., Lucia Valentino M., Minardi R., Fulitano D., Di Vito L., Mostacci B., Alvisi L., Avoni P., Liguori R., Tinuper P., Bisulli F., and Carelli V.
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0301 basic medicine ,Male ,Electroencephalography ,medicine.disease_cause ,progressive myoclonic epilepsy (PME) ,Severity of Illness Index ,Epilepsy ,0302 clinical medicine ,maternally inherited Leigh's syndrome (MILS) ,Mutation ,medicine.diagnostic_test ,biology ,General Neuroscience ,Mitochondrial Myopathies ,Middle Aged ,Mitochondrial Proton-Translocating ATPases ,MT-ATP6 MT-ATP6 ,Heteroplasmy ,Pedigree ,Child, Preschool ,MT-ATP6 ,Female ,medicine.symptom ,Leigh Disease ,Brief Communications ,Retinitis Pigmentosa ,RC321-571 ,Adult ,medicine.medical_specialty ,Ataxia ,Neurosciences. Biological psychiatry. Neuropsychiatry ,Brief Communication ,MT‐ATP6 MT‐ATP6 ,03 medical and health sciences ,Internal medicine ,Retinitis pigmentosa ,medicine ,Humans ,RC346-429 ,neuropathy, ataxia, retinitis pigmentosa (NARP) ,business.industry ,medicine.disease ,Brain Waves ,030104 developmental biology ,Endocrinology ,biology.protein ,epilepsy ,Neurology (clinical) ,Neurology. Diseases of the nervous system ,business ,Asymptomatic carrier ,030217 neurology & neurosurgery - Abstract
The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxia, retinitis pigmentosa (NARP) due to mutations in the mitochondrial ATP6 gene and to correlate electroclinical features with mutant heteroplasmy load (HL). We investigated 17 individuals with different phenotype, from asymptomatic carriers to MILS: 11 carried the m.8993T>G mutation, 5 the m.8993T>C and one the novel, de novo m.8858G>A mutation. Seizures occurred in 37.5% of patients, EEG abnormalities in 73%. We ranked clinical and EEG abnormalities severity and performed quantitative EEG to estimate Abnormality Ratio (AR) and Spectral Relative Power (SRP). Spearman’s rho and Kruskal–Wallis test were used for correlation with heteroplasmy load (HL). HL correlated with disease severity (Rho=0.63, P=0.012) and was significantly higher in patients with seizures or EEG abnormalities (P=0.014). HL correlated with EEG severity score only for the m.8993T>G (Rho=0.73, P=0.040), showing a trend toward a positive correlation with AR and delta SPR, irrespective of the mutation.
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- 2021
44. Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency
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Ilaria Cani, Federica Pondrelli, Laura Licchetta, Raffaella Minardi, Tania Giangregorio, Barbara Mostacci, Lorenzo Muccioli, Lidia Di Vito, Anna Fetta, Carmen Barba, Carlo Alberto Castioni, Andrea Bordugo, Paolo Tinuper, Francesca Bisulli, Cani I., Pondrelli F., Licchetta L., Minardi R., Giangregorio T., Mostacci B., Muccioli L., Di Vito L., Fetta A., Barba C., Castioni C.A., Bordugo A., Tinuper P., and Bisulli F.
- Subjects
Adult ,Epilepsy ,newborn screening ,Infant, Newborn ,Hemiplegia ,inherited metabolic disorder ,Acyl-CoA Dehydrogenase ,Lipid Metabolism, Inborn Errors ,Status Epilepticus ,Neurology ,fatty acid oxidation disorder ,intellectual disability ,Humans ,Female ,Neurology (clinical) ,epileptic syndrome - Abstract
We describe a case of epileptic encephalopathy in a young woman with undiagnosed medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD), who presented with an early-onset focal motor status epilepticus (SE) then followed by permanent left hemiplegia and drug-resistant epilepsy with neurodevelopmental delay. Throughout her clinical history, recurrent episodes of lethargy, feeding difficulties, and clustering seizures occurred, progressing into a super refractory SE and death at the age of 25 years. Although epilepsy is not a distinctive feature of MCADD, we advise considering this metabolic disease as a possible etiology of epileptic encephalopathy and hemiconvulsion-hemiplegia-epilepsy syndrome of unknown origin, on the chance to provide a timely and targeted treatment preventing development delay and evolution to SE. Adult patients with epilepsy of unknown etiology not screened at birth for inborn errors of metabolism, such as MCADD, should be promptly investigated for these treatable conditions.
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- 2022
45. Epilepsy With Auditory Features: From Etiology to Treatment
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Alessandro Furia, Laura Licchetta, Lorenzo Muccioli, Lorenzo Ferri, Barbara Mostacci, Stefania Mazzoni, Veronica Menghi, Raffaella Minardi, Paolo Tinuper, Francesca Bisulli, Furia A., Licchetta L., Muccioli L., Ferri L., Mostacci B., Mazzoni S., Menghi V., Minardi R., Tinuper P., and Bisulli F.
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DEPDC5 ,Neurology ,aphasic seizure ,auditory hallucinations ,mTOR ,auditory hallucination ,epilepsy ,LGI1 ,Neurology. Diseases of the nervous system ,Neurology (clinical) ,RC346-429 ,aphasic seizures - Abstract
Epilepsy with auditory features (EAF) is a focal epilepsy belonging to the focal epileptic syndromes with onset at variable age according to the new ILAE Classification. It is characterized by seizures with auditory aura or receptive aphasia suggesting a lateral temporal lobe involvement of the epileptic discharge. Etiological factors underlying EAF are largely unknown. In the familial cases with an autosomal dominant pattern of inheritance several genes have been involved, among which the first discovered, LGI1, was thought to be predominant. However, increasing evidence now points to a multifactorial etiology, as familial and sporadic EAF share a virtually identical electro-clinical characterization and only a few have a documented genetic etiology. Patients with EAF usually have an unremarkable neurological examination and a good response to antiseizure medications. However, it must be underscored that total remission might be lower than expected and that treatment withdrawal might lead to relapses. Thus, a proper understanding of this condition is in order for better patient treatment and counseling. Further studies are still required to further characterize the many facets of EAF.
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- 2021
46. TELEmedicine for EPIlepsy Care (TELE-EPIC): Protocol of a randomised, open controlled non-inferiority clinical trial
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Federico Vigevano, Manuela Contin, Elisa Baldin, Paolo Tinuper, Barbara Mostacci, Laura Licchetta, Emanuel Raschi, Luca Vignatelli, Corrado Zenesini, Francesca Bisulli, Marina Trivisano, Susan Mohamed, Licchetta L., Trivisano M., Baldin E., Mohamed S., Raschi E., Mostacci B., Zenesini C., Contin M., Vigevano F., Bisulli F., Tinuper P., and Vignatelli L.
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Adult ,Telemedicine ,Chronic condition ,law.invention ,Epilepsy ,Quality of life (healthcare) ,Randomized controlled trial ,Seizures ,law ,Outpatients ,Humans ,Medicine ,Multicenter Studies as Topic ,Child ,Randomized Controlled Trials as Topic ,Venipuncture ,business.industry ,COVID-19 ,Outpatient ,General Medicine ,medicine.disease ,Seizure ,Clinical trial ,Neurology ,Quality of Life ,Medical emergency ,telemedicine ,business ,Blood sampling ,Human - Abstract
IntroductionEpilepsy is a chronic condition requiring consistent follow-up aimed at seizure control, and monitoring of anti-seizure medication (ASM) levels and side effects. Telemedicine (TM) offers invaluable support to patient follow-up, guaranteeing the prompt availability of a team of experts for persons with epilepsy (PWE) widely distributed across the country. Although many health institutions have endorsed the use of TM, robust data on effectiveness, safety and costs of TM applied to epilepsy are lacking. TELEmedicine for EPIlepsy Care (TELE-EPIC) will evaluate the effectiveness of video consultation (VC) via TM compared with usual care (UC) for the monitoring of PWE (TELE-EPIC_RCT). Moreover, TELE-EPIC will apply an innovative Volumetric Absorptive Microsampling (VAMS) device for quantitation of ASM through finger prick blood sampling as an alternative to venipuncture sampling (TELE-EPIC_VAMS).Methods and analysisTELE-EPIC_RCT is a multicentre, open, pragmatic two-arm randomised controlled trial prospectively including adult and paediatric outpatients with established diagnosis of epilepsy consecutively attending the Epilepsy Centres of Bologna and Rome, respectively. The primary outcome is the non-inferiority of VC on seizure control compared with UC after an 18-month follow-up. Secondary outcomes are adherence to treatment, ASM-related adverse events, quality of life, mood disorders, patient and caregiver satisfaction, safety and costs. TELE-EPIC_VAMS is a cross-validation study for blood ASM quantitation through a novel, VAMS-based device, comparing (1) VAMS versus plasma samples (reference standard method); and (2) nurse-collected versus self-collected blood by VAMS device.Ethics and disseminationThe study has been approved by the local ethics committee (349-2019-SPER-AUSLBO). Complete information about the state of project, relevant events and results will be regularly updated on the project’s webpage on ClinicalTrials.gov. The project’s results and data on the potential impact of TM in epilepsy will be disseminated on social media. A closeout meeting will be convened for the communication and dissemination of the project, highlighting its main achievements and impacts.Trial registration numberNCT04496310
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- 2021
47. Seizure worsening in pregnancy in women with sleep-related hypermotor epilepsy (SHE): A historical cohort study
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Federica Provini, Barbara Mostacci, Serena Troisi, Luca Vignatelli, Laura Licchetta, Francesca Bisulli, Annalisa Rombini, Patrizia Avoni, Paolo Tinuper, Corrado Zenesini, Mostacci B., Troisi S., Bisulli F., Zenesini C., Licchetta L., Provini F., Avoni P., Rombini A., Vignatelli L., and Tinuper P.
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Pediatrics ,medicine.medical_specialty ,Population ,Seizure recurrence ,Sleep-related hypermotor epilepsy ,Epilepsy, Reflex ,Cohort Studies ,Epilepsy ,Pregnancy ,Retrospective Studie ,Seizures ,medicine ,Anticonvulsant ,Humans ,education ,Retrospective Studies ,education.field_of_study ,business.industry ,General Medicine ,Patient counseling ,Seizure freedom ,medicine.disease ,Seizure ,Neurology ,Cohort ,Anticonvulsants ,Female ,Neurology (clinical) ,Cohort Studie ,business ,Sleep ,Historical Cohort ,Human - Abstract
Introduction : Data on seizure course during pregnancy in women with epilepsy are limited. In particular, little is known about the causes underlying possible seizure worsening in this population. We therefore set out to explore worsening, in pregnancy, of sleep-related hypermotor epilepsy (SHE), a syndrome in which seizures are known to be triggered by sleep fragmentation, a condition common in pregnancy. Methods : From a cohort of consecutive patients with epilepsy who had one or more deliveries between January 2008 and March 2018, we retrospectively compared the rates of seizure worsening during pregnancy in SHE versus other epilepsies (NSHE). Worsening was defined as an increase in seizure frequency compared with the rate for the year prior to conception, including seizure recurrence after a year of seizure freedom, and/or new occurrence of tonic-clonic seizures. Results : We considered data on 11 pregnancies in women with SHE and 104 pregnancies in women with NSHE. Seizures worsened in six SHE pregnancies (54.5%) versus 18 NSHE ones (17.3%) (OR adjusted for preconception seizure frequency and polytherapy = 5.7, 95% CI = 1.6–20.8, p = 0.019). Conclusions : Women with SHE have a higher risk of seizure worsening in pregnancy. This finding should be considered from the perspective of patient counseling.
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- 2021
48. Epilepsy with auditory features: Contribution of known genes in 112 patients
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Barbara Mostacci, Leonardo Caporali, Raffaella Minardi, Paolo Tinuper, Corrado Zenesini, Lorenzo Muccioli, Martina Fanella, S. Baldassari, Laura Licchetta, C. Rinaldi, Tommaso Pippucci, Veronica Menghi, Patrizia Avoni, Francesca Bisulli, Bisulli F., Rinaldi C., Pippucci T., Minardi R., Baldassari S., Zenesini C., Mostacci B., Fanella M., Avoni P., Menghi V., Caporali L., Muccioli L., Tinuper P., and Licchetta L.
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Male ,Proband ,DEPDC5 ,Epilepsy, Frontal Lobe ,RELN ,Bioinformatics ,Genetic analysis ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Genetic ,Next generation sequencing ,medicine ,Humans ,genetics ,SCN1A ,LGI1 ,next generation sequencing ,Genetic heterogeneity ,business.industry ,General Medicine ,medicine.disease ,Penetrance ,Pedigree ,Reelin Protein ,Neurology ,Mutation ,Epilepsy syndromes ,Cohort ,Female ,Neurology (clinical) ,business ,Epileptic Syndromes ,030217 neurology & neurosurgery - Abstract
Epilepsy with Auditory Features (EAF) is a focal epilepsy syndrome mainly of unknown aetiology. LGI1 and RELN have been identified as the main cause of Autosomal Dominant EAF and anecdotally reported in non-familial cases. Pathogenic variants in SCN1A and DEPDC5 have also been described in a few EAF probands belonging to families with heterogeneous phenotypes and incomplete penetrance. We aimed to estimate the contribution of these genes to the disorder by evaluating the largest cohort of EAF. We included 112 unrelated EAF cases (male/female: 52/60) who underwent genetic analysis by next-generation sequencing (NGS) techniques. Thirty-three (29.5%) were familial cases. We identified a genetic diagnosis for 8% of our cohort, including pathogenic/likely pathogenic variants (4/8 novel) in LGI1 (2.7%, CI: 0.6-7.6); RELN (1.8%; CI: 0.2-6.3); SCN1A (2.7%; CI: 0.6-7.6) and DEPDC5 (0.9%; CI 0-4.9).This study shows that the contribution of each of the known genes to the overall disorder is limited and that the genetic background of EAF is still largely unknown. Our data emphasize the genetic heterogeneity of EAF and will inform the diagnosis and management of individuals with this disorder.
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- 2021
49. Premotor antidepressants use differs according to Parkinson's disease subtype: A cohort study
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Roberto D'Alessandro, Corrado Zenesini, Elisa Baldin, Giuseppe Bonavina, Giovanna Calandra-Buonaura, Pietro Cortelli, Giovanni Fabbri, Maria Guarino, Stefania Alessandra Nassetti, Roberta Pantieri, Giuseppe Samoggia, Francesco Nonino, Luca Vignatelli, Emanuela Azzoni, Francesca Baschieri, Laura Maria Beatrice Belotti, Marzio Bellan, Lidia Bettelli, Sabina Capellari, Sabina Cevoli, Piero de Carolis, Carlo Descovich, Danilo Di Diodoro, Renata Ferrara, Anna Sandra Gabellini, Giulia Giannini, Pietro Guaraldi, Fabiola Lucchi, Barbara Mostacci, Gaetano Procaccianti, Rita Rinaldi, Giovanni Rizzo, Tommaso Sacquegna, Luisa Sambati, Cesa Scaglione, Elisa Stivanello, Antonella Tempestini, Carmelina Trocino, Susanna Trombetti, D'Alessandro R., Zenesini C., Baldin E., Bonavina G., Calandra Buonaura G., Cortelli P., Fabbri G., Guarino M., Nassetti S.A., Pantieri R., Samoggia G., Nonino F., Vignatelli L., Azzoni E., Baschieri F., Beatrice Belotti L.M., Bellan M., Bettelli L., Capellari S., Cevoli S., de Carolis P., Descovich C., Diodoro D.D., Ferrara R., Gabellini A.S., Giannini G., Guaraldi P., Lucchi F., Mostacci B., Procaccianti G., Rinaldi R., Rizzo G., Sacquegna T., Sambati L., Scaglione C., Stivanello E., Tempestini A., Trocino C., and Trombetti S.
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Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,Parkinson's disease ,Prodromal symptoms ,Population ,Disease ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Tremor ,Humans ,Medicine ,education ,Depression (differential diagnoses) ,Aged ,education.field_of_study ,business.industry ,Depression ,Hazard ratio ,Antidepressive agent ,Parkinson Disease ,Odds ratio ,Middle Aged ,medicine.disease ,Antidepressive Agents ,nervous system diseases ,030104 developmental biology ,Italy ,Neurology ,Antidepressant ,Female ,Neurology (clinical) ,Geriatrics and Gerontology ,business ,030217 neurology & neurosurgery ,Cohort studie ,Cohort study - Abstract
Background Depression is more frequently associated with akinetic-rigid/postural instability gait difficulty subtypes of Parkinson's disease than with tremor-dominant subtype. Objectives The aim of the study is to investigate the frequency of exposure to antidepressant drugs, as proxy of depression, before motor onset according to Parkinson's disease subtypes. Method Based on a historical cohort design, the exposure to antidepressant drugs before Parkinson's disease motor onset was obtained from the drug prescription database and assessed in the resident population of the Local Healthcare Trust of Bologna (443,117 subjects older than 35 years). Diagnosis of Parkinson's disease and subtype (tremor dominant, non-tremor dominant) at onset were recorded by neurologists and obtained from the “ParkLink Bologna” record linkage system. Exposure to antidepressants was compared both to the general population and between the two subtypes. Results From 2006 to 2018, 198 patients had a tremor dominant subtype at onset whereas 450 did not. Comparison with the general population for antidepressant exposure showed an adjusted hazard ratio of 0.86 (95% CI 0.44–1.70) for the tremor dominant subtype and 1.66 (1.16–2.39) for the non-tremor dominant subtype. Comparison of non-tremor dominant with tremor dominant subtypes showed an adjusted odds ratio of 1.86 (1.05–3.95) for antidepressant exposure. Conclusions In our study, non-tremor dominant Parkinson's disease at onset was significantly associated with exposure to antidepressants in comparison to the general population and in comparison with the tremor dominant subtype. These results support the hypothesis of different biological substrates for different Parkinson's disease subtypes even before motor onset.
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- 2021
50. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
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Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al- len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka- therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou- siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart- ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An- nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs- bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe, ChristophJ.Schankin, SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Ve ?ronique Michel, Francine Chas- soux, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko-Shadrach, Charlotte Law- thom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El-Naggar, Peter Widdess-Walsh, Nina Barisic, Laura 12 The American Journal of Human Genetics 108, 1-18, June 3, 2021 Please cite this article in press as: Epi25 Collaborative, Sub-genic intolerance, ClinVar, the epilepsies: A whole-exome sequencing study of 29, 165 individuals, The American Journal of Human Genetics (2021), https://doi.org/10.1016/j.ajhg.2021.04.009 Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, An- tonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpie- tro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisa- betta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lor- enzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, At- sushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie Khoueiry Zgheib, Birute Tumiene, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Caglayan, Mutluay Arslan, Zuhal Yap?c?, P?nar To- paloglu, Bulent Kara, Uluc Yis, Dilsad Turkdogan, Asl? Gun- dogdu-Eken, Nerses Bebek, Meng-Han Tsai, Chen-Jui Ho, Chih- Hsiang Lin, Kuang-Lin Lin, I-Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad M. Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jac- queline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidis- waran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, David B. Goldstein., Motelow J.E., Povysil G., Dhindsa R.S., Stanley K.E., Allen A.S., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A.E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B.M., Cavalleri G.L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Sisodiya S.M., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bennett C.A., Leu C., Leech S.L., O'Brien T.J., Todaro M., Stamberger H., Andrade D.M., Ali Q.Z., Sadoway T.R., Krestel H., Schaller A., Papacostas S.S., Kousiappa I., Tanteles G.A., Christou Y., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Neubauer B.A., Zimprich F., Feucht M., Reinthaler E.M., Kunz W.S., Zsurka G., Surges R., Baumgartner T., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A.D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J.R., Krey I., Weber Y.G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B.J., Schulze-Bonhage A., Borggrafe I., Schankin C.J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A.-E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M.I., Chung S.-K., Pickrell W.O., Powell R., Baker M.D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M.R., Auce P., Sills G.J., Baum L.W., Sham P.C., Cherny S.S., Lui C.H.T., Delanty N., Doherty C.P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M.S., Salpietro V., Scala M., Mancardi M.M., Nobili L., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry Zgheib N., Tumiene B., Utkus A., Sadleir L.G., King C., Caglayan S.H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Tsai M.-H., Ho C.-J., Lin C.-H., Lin K.-L., Chou I.-J., Poduri A., Shiedley B.R., Shain C., Noebels J.L., Goldman A., Busch R.M., Jehi L., Najm I.M., Ferguson L., Khoury J., Glauser T.A., Clark P.O., Buono R.J., Ferraro T.N., Sperling M.R., Lo W., Privitera M., French J.A., Schachter S., Kuzniecky R.I., Devinsky O., Hegde M., Greenberg D.A., Ellis C.A., Goldberg E., Helbig K.L., Cosico M., Vaidiswaran P., Fitch E., Berkovic S.F., Lerche H., Lowenstein D.H., Goldstein D.B., Epi25 Collaborative, Institut de Neurosciences des Systèmes (INS), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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0301 basic medicine ,focal epilepsy ,Whole Exome Sequencing ,Cohort Studies ,Epilepsy ,0302 clinical medicine ,Genetic Marker ,Missense mutation ,Exome ,whole-exome sequencing ,generalized epilepsy ,ComputingMilieux_MISCELLANEOUS ,Genetics (clinical) ,Exome sequencing ,seizures ,Genetics ,ClinVar ,Phenotype ,epileptic encephalopathy ,Epi25 ,intolerance ,Case-Control Studie ,Human ,Genetic Markers ,seizure ,Disease Association ,Biology ,Article ,03 medical and health sciences ,Exome Sequencing ,medicine ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Generalized epilepsy ,Gene ,Louvain ,[SCCO.NEUR]Cognitive science/Neuroscience ,Correction ,Genetic Variation ,medicine.disease ,epilepsy ,Human genetics ,030104 developmental biology ,Case-Control Studies ,Human medicine ,Cohort Studie ,Genetic generalized epilepsy ,030217 neurology & neurosurgery - Abstract
Summary Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Specifically, we compared the genetic architectures of severe developmental and epileptic encephalopathies (DEEs) and two generally less severe epilepsies, genetic generalized epilepsy and non-acquired focal epilepsy (NAFE). Our gene-based rare variant collapsing analysis used geographic ancestry-based clustering that included broader ancestries than previously possible and revealed novel associations. Using the missense intolerance ratio (MTR), we found that variants in DEE-affected individuals are in significantly more intolerant genic sub-regions than those in NAFE-affected individuals. Only previously reported pathogenic variants absent in available genomic datasets showed a significant burden in epilepsy-affected individuals compared with control individuals, and the ultra-rare pathogenic variants associated with DEE were located in more intolerant genic sub-regions than variants associated with non-DEE epilepsies. MTR filtering improved the yield of ultra-rare pathogenic variants in affected individuals compared with control individuals. Finally, analysis of variants in genes without a disease association revealed a significant burden of loss-of-function variants in the genes most intolerant to such variation, indicating additional epilepsy-risk genes yet to be discovered. Taken together, our study suggests that genic and sub-genic intolerance are critical characteristics for interpreting the effects of variation in genes that influence epilepsy.
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- 2021
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