Search

Your search keyword '"Traccis, S"' showing total 130 results
Start Over Author "Traccis, S"
130 results on '"Traccis, S"'

1. Detection of disability worsening in relapsing-remitting multiple sclerosis patients: a real-world roving Expanded Disability Status Scale reference analysis from the Italian Multiple Sclerosis Register

Author

Lepore, V, Bosetti, C, Santucci, C, Iaffaldano, P, Trojano, M, Mosconi, P, Totaro, R, Coniglio, M, Bossio, R, Valentino, P, Gatto, M, Paolicelli, D, Ardito, B, Barcella, V, Capone, L, Nicolao, P, Lugaresi, A, Rini, A, Bianchi, M, Plasmati, I, Cocco, E, Docimo, R, De Luca, G, Mondino, F, Di Sapio, A, Clerici, R, Mascoli, N, Ferro, M, Chisari, C, Maimone, D, Strumia, S, Pugliatti, M, Cargnelutti, D, Caniatti, L, Avolio, C, Crociani, P, Amato, M, Massacesi, L, Malagu, S, Ribizzi, G, Inglese, M, Venturi, S, Gazzola, P, Pizio, N, Brichetto, G, Plewnia, K, Bellantonio, P, Balgera, R, De Robertis, F, Fermi, S, Fausto, F, Mazzoni, M, Meucci, G, Cartechini, E, Cavaletti, G, Buccafusca, M, Bramanti, P, Romeo, M, Rovaris, M, Ronzoni, M, Confalonieri, P, Chiveri, L, Bertora, P, Tonietti, S, De Riz, M, Protti, A, Sola, P, Maremmani, C, Lus, G, Gallo, A, Maniscalco, G, Morra, V, Cacchio, G, Iodice, R, Ragno, M, Sinisi, L, Cantello, R, Piras, M, Salemi, G, Cottone, S, Grimaldi, L, Corea, F, Santangelo, G, Immovili, P, Gallo, P, D'Andrea, F, Frittelli, C, Pasquali, L, Falcini, M, Granella, F, Pesci, I, Ancona, A, Bergamaschi, R, Giordano, A, Di Napoli, M, Romano, S, Pozzilli, C, Mirabella, M, Conte, A, Galgani, S, Peresson, M, Grasso, M, Ferraro, E, Capone, F, Marfia, G, de Pascalis, D, Piantadosi, C, Valeriani, M, Busillo, V, Barone, P, De Stefano, N, Ulivelli, M, Santuccio, G, Parodi, S, Bucello, S, Traccis, S, Zarbo, R, Tassinari, T, Bandini, F, Cavalla, P, Clerico, M, De Rosa, G, Bertolotto, A, Imperiale, D, Sarchielli, P, Celani, M, Vianello, M, Marini, B, Fortunato, M, Zaffaroni, M, Nasuelli, D, Banfi, P, Brioschi, A, Solaro, C, Quatrale, R, Rossi, P, Gajofatto, A, Battaglia, M, Capobianco, M, Patti, F, Comi, G, Lepore V., Bosetti C., Santucci C., Iaffaldano P., Trojano M., Mosconi P., Totaro R., Coniglio M. G., Bossio R. B., Valentino P., Gatto M., Paolicelli D., Ardito B., Barcella V., Capone L., Nicolao P., Lugaresi A., Rini A., Bianchi M., Plasmati I., Cocco E., Docimo R., De Luca G., Mondino F., Di Sapio A., Clerici R., Mascoli N., Ferro M. T., Chisari C. G., Maimone D., Strumia S., Pugliatti M., Cargnelutti D., Caniatti L. M., Avolio C., Crociani P., Amato M. P., Massacesi L., Malagu S., Ribizzi G., Inglese M., Venturi S., Gazzola P., Pizio N. R., Brichetto G., Plewnia K., Bellantonio P., Balgera R., De Robertis F., Fermi S., Fausto F., Mazzoni M., Meucci G., Cartechini E., Cavaletti G., Buccafusca M., Bramanti P., Romeo M., Rovaris M., Ronzoni M., Confalonieri P., Chiveri L., Bertora P., Tonietti S., De Riz M., Protti A., Sola P., Maremmani C., Lus G., Gallo A., Maniscalco G. T., Morra V. B., Cacchio G., Iodice R., Ragno M., Sinisi L., Cantello R., Piras M. L., Salemi G., Cottone S., Grimaldi L. M. E., Corea F., Santangelo G., Immovili P., Gallo P., D'Andrea F., Frittelli C., Pasquali L., Falcini M., Granella F., Pesci I., Ancona A. L., Bergamaschi R., Giordano A., Di Napoli M., Romano S., Pozzilli C., Mirabella M., Conte A., Galgani S., Peresson M., Grasso M. G., Ferraro E., Capone F., Marfia G. A., de Pascalis D., Piantadosi C., Valeriani M., Busillo V., Barone P., De Stefano N., Ulivelli M., Santuccio G., Parodi S., Bucello S., Traccis S., Zarbo R., Tassinari T., Bandini F., Cavalla P., Clerico M., De Rosa G., Bertolotto A., Imperiale D., Sarchielli P., Celani M. G., Vianello M., Marini B., Fortunato M., Zaffaroni M., Nasuelli D., Banfi P., Brioschi A. M., Solaro C., Quatrale R., Rossi P., Gajofatto A., Battaglia M. A., Capobianco M., Patti F., Comi G., Lepore, V, Bosetti, C, Santucci, C, Iaffaldano, P, Trojano, M, Mosconi, P, Totaro, R, Coniglio, M, Bossio, R, Valentino, P, Gatto, M, Paolicelli, D, Ardito, B, Barcella, V, Capone, L, Nicolao, P, Lugaresi, A, Rini, A, Bianchi, M, Plasmati, I, Cocco, E, Docimo, R, De Luca, G, Mondino, F, Di Sapio, A, Clerici, R, Mascoli, N, Ferro, M, Chisari, C, Maimone, D, Strumia, S, Pugliatti, M, Cargnelutti, D, Caniatti, L, Avolio, C, Crociani, P, Amato, M, Massacesi, L, Malagu, S, Ribizzi, G, Inglese, M, Venturi, S, Gazzola, P, Pizio, N, Brichetto, G, Plewnia, K, Bellantonio, P, Balgera, R, De Robertis, F, Fermi, S, Fausto, F, Mazzoni, M, Meucci, G, Cartechini, E, Cavaletti, G, Buccafusca, M, Bramanti, P, Romeo, M, Rovaris, M, Ronzoni, M, Confalonieri, P, Chiveri, L, Bertora, P, Tonietti, S, De Riz, M, Protti, A, Sola, P, Maremmani, C, Lus, G, Gallo, A, Maniscalco, G, Morra, V, Cacchio, G, Iodice, R, Ragno, M, Sinisi, L, Cantello, R, Piras, M, Salemi, G, Cottone, S, Grimaldi, L, Corea, F, Santangelo, G, Immovili, P, Gallo, P, D'Andrea, F, Frittelli, C, Pasquali, L, Falcini, M, Granella, F, Pesci, I, Ancona, A, Bergamaschi, R, Giordano, A, Di Napoli, M, Romano, S, Pozzilli, C, Mirabella, M, Conte, A, Galgani, S, Peresson, M, Grasso, M, Ferraro, E, Capone, F, Marfia, G, de Pascalis, D, Piantadosi, C, Valeriani, M, Busillo, V, Barone, P, De Stefano, N, Ulivelli, M, Santuccio, G, Parodi, S, Bucello, S, Traccis, S, Zarbo, R, Tassinari, T, Bandini, F, Cavalla, P, Clerico, M, De Rosa, G, Bertolotto, A, Imperiale, D, Sarchielli, P, Celani, M, Vianello, M, Marini, B, Fortunato, M, Zaffaroni, M, Nasuelli, D, Banfi, P, Brioschi, A, Solaro, C, Quatrale, R, Rossi, P, Gajofatto, A, Battaglia, M, Capobianco, M, Patti, F, Comi, G, Lepore V., Bosetti C., Santucci C., Iaffaldano P., Trojano M., Mosconi P., Totaro R., Coniglio M. G., Bossio R. B., Valentino P., Gatto M., Paolicelli D., Ardito B., Barcella V., Capone L., Nicolao P., Lugaresi A., Rini A., Bianchi M., Plasmati I., Cocco E., Docimo R., De Luca G., Mondino F., Di Sapio A., Clerici R., Mascoli N., Ferro M. T., Chisari C. G., Maimone D., Strumia S., Pugliatti M., Cargnelutti D., Caniatti L. M., Avolio C., Crociani P., Amato M. P., Massacesi L., Malagu S., Ribizzi G., Inglese M., Venturi S., Gazzola P., Pizio N. R., Brichetto G., Plewnia K., Bellantonio P., Balgera R., De Robertis F., Fermi S., Fausto F., Mazzoni M., Meucci G., Cartechini E., Cavaletti G., Buccafusca M., Bramanti P., Romeo M., Rovaris M., Ronzoni M., Confalonieri P., Chiveri L., Bertora P., Tonietti S., De Riz M., Protti A., Sola P., Maremmani C., Lus G., Gallo A., Maniscalco G. T., Morra V. B., Cacchio G., Iodice R., Ragno M., Sinisi L., Cantello R., Piras M. L., Salemi G., Cottone S., Grimaldi L. M. E., Corea F., Santangelo G., Immovili P., Gallo P., D'Andrea F., Frittelli C., Pasquali L., Falcini M., Granella F., Pesci I., Ancona A. L., Bergamaschi R., Giordano A., Di Napoli M., Romano S., Pozzilli C., Mirabella M., Conte A., Galgani S., Peresson M., Grasso M. G., Ferraro E., Capone F., Marfia G. A., de Pascalis D., Piantadosi C., Valeriani M., Busillo V., Barone P., De Stefano N., Ulivelli M., Santuccio G., Parodi S., Bucello S., Traccis S., Zarbo R., Tassinari T., Bandini F., Cavalla P., Clerico M., De Rosa G., Bertolotto A., Imperiale D., Sarchielli P., Celani M. G., Vianello M., Marini B., Fortunato M., Zaffaroni M., Nasuelli D., Banfi P., Brioschi A. M., Solaro C., Quatrale R., Rossi P., Gajofatto A., Battaglia M. A., Capobianco M., Patti F., and Comi G.

Abstract

Background and purpose: In relapsing-remitting multiple sclerosis patients (RRMS) disability progressively accumulates over time. To compare the cumulative probability of 6-month confirmed disability-worsening events using a fixed baseline or a roving Expanded Disability Status Scale (EDSS) reference, in a real-world setting. Methods: A cohort of 7964 RRMS patients followed for 2 or more years, with EDSS scores recorded every 6 months, was selected from the Italian Multiple Sclerosis Register. The overall probability of confirmed disability-worsening events and of confirmed disability-worsening events unrelated to relapse was evaluated using as reference a fixed baseline EDSS score or a roving EDSS score in which the increase had to be separated from the last EDSS assessment by at least 6 or 12 months. Results: Using a fixed baseline EDSS reference, the cumulative probability of 6-year overall confirmed disability-worsening events was 33.2%, and that of events unrelated to relapse was 10.9% (33% of overall confirmed disability-worsening events). Using a roving EDSS, the proportions were respectively 35.2% and 21.3% (61% of overall confirmed disability-worsening events). Conclusions: In a real-world setting, roving EDSS reference scores appear to be more sensitive for detecting confirmed disability-worsening events unrelated to relapse in RRMS patients.

Published
2021

2. The Italian multiple sclerosis register

Author

Trojano, M, Bergamaschi, R, Amato, M, Comi, G, Ghezzi, A, Lepore, V, Marrosu, M, Mosconi, P, Patti, F, Ponzio, M, Zaratin, P, Battaglia, M, Acquistapace, D, Aguglia, U, Annunziata, P, Ardito, B, Avolio, C, Balgera, R, Bandini, F, Banfi, P, Barone, P, Bellantonio, P, Bertolotto, A, Bertora, P, Bombardi, R, Bosco Zimatore, G, Bossio, R, Bramanti, P, Brescia Morra, V, Brioschi, A, Bruzzone, M, Buccafusca, M, Busillo, V, Caneve, G, Caniatti, L, Capone, L, Capone, F, Cappellani, A, Cargnelutti, D, Cavaletti, G, Cavalla, P, Celani, M, Centonze, D, Chiveri, L, Clerici, R, Clerico, M, Cocco, E, Comi, C, Coniglio, M, Cordera, S, Corea, F, Cortese, A, Costantino, G, Cottone, S, Crociani, P, D’Andrea, F, Danni, M, De Luca, G, de Pascalis, D, De Robertis, F, De Stefano, N, Di Battista, G, Di Napoli, M, Falcini, M, Fausto, F, Ferrò, M, Florio, C, Fortunato, M, Frittelli, C, Galgani, S, Gallo, P, Gatto, M, Gazzola, P, Geda, C, Giordano, A, Granella, F, Grasso, M, Grimaldi, L, Imperiale, D, Lo Russo, L, Logullo, F, Lugaresi, A, Lus, G, Maccarrone, G, Maimone, D, Malagù, S, Marconi, R, Maritato, P, Massacesi, L, Mazzoni, M, Meucci, G, Mirabella, M, Montepietra, S, Nasuelli, D, Neri, W, Orefice, G, Parodi, S, Pasquali, L, Passarella, B, Peresson, M, Perla, F, Pesci, I, Piantadosi, C, Piras, M, Pizio, N, Pozzilli, C, Protti, A, Pugliatti, M, Quatrale, R, Ragno, M, Rezzonico, M, Ribizzi, G, Riva, M, Ronzoni, M, Rosso, M, Rottoli, M, Rovaris, M, Salemi, G, Salvetti, M, Santangelo, M, Santangelo, G, Santuccio, G, Sarchielli, P, Scarpini, E, Sechi, G, Severi, S, Sinisi, L, Sola, P, Spitaleri, D, Tassinari, T, Tedeschi, G, Tonietti, S, Torri Clerici, V, Totaro, R, Traccis, S, Turla, M, Uccelli, A, Ulivelli, M, Valentino, P, Valeriani, M, Venturi, S, Vianello, M, Zaffaroni, M, Trojano, Maria, Bergamaschi, Roberto, Amato, Maria Pia, Comi, Giancarlo, Ghezzi, Angelo, Lepore, Vito, Marrosu, Maria Giovanna, Mosconi, Paola, Patti, Francesco, Ponzio, Michela, Zaratin, Paola, Battaglia, Mario Alberto, Acquistapace, D., Aguglia, U., Amato, M. P., Annunziata, P., Ardito, B., Avolio, C., Balgera, R., Bandini, F., Banfi, P., Barone, P., Bellantonio, P., Bergamaschi, R., Bertolotto, A., Bertora, P., Bombardi, R., Bosco Zimatore, G., Bossio, R. B., Bramanti, P., Brescia Morra, V., Brioschi, A. M., Bruzzone, M., Buccafusca, M., Busillo, V., Caneve, G., Caniatti, L. M., Capone, L., Capone, F., Cappellani, A., Cargnelutti, D., Cavaletti, G., Cavalla, P., Celani, M. G., Centonze, D., Chiveri, L., Clerici, R., Clerico, M., Cocco, E., Comi, G., Comi, C., Coniglio, M. G., Cordera, S., Corea, F., Cortese, A., Costantino, G., Cottone, S., Crociani, P., D’Andrea, F., Danni, M. C., De Luca, G., de Pascalis, D., De Robertis, F., De Stefano, N., Di Battista, G., Di Napoli, M., Falcini, M., Fausto, F., Ferrò, M. T., Florio, C., Fortunato, M., Frittelli, C., Galgani, S., Gallo, P., Gatto, M., Gazzola, P., Geda, C., Giordano, A., Granella, F., Grasso, M. G., Grimaldi, L. M. E., Imperiale, D., Lo Russo, L., Logullo, F. O., Lugaresi, A., Lus, G., Maccarrone, G., Maimone, D., Malagù, S., Marconi, R., Maritato, P., Massacesi, L., Mazzoni, M., Meucci, G., Mirabella, M., Montepietra, S., Nasuelli, D., Neri, W., Orefice, G., Parodi, S., Pasquali, L., Passarella, B., Patti, F., Peresson, M., Perla, F., Pesci, I., Piantadosi, C., Piras, M. L., Pizio, N. R., Pozzilli, C., Protti, A., Pugliatti, M., Quatrale, R., Ragno, M., Rezzonico, M., Ribizzi, G., Riva, M., Ronzoni, M., Rosso, M. G., Rottoli, M., Rovaris, M., Salemi, G., Salvetti, M., Santangelo, M., Santangelo, G., Santuccio, G., Sarchielli, P., Scarpini, E., Sechi, G. P., Severi, S., Sinisi, L., Sola, P., Spitaleri, D., Tassinari, T., Tedeschi, G., Tonietti, S., Torri Clerici, V., Totaro, R., Traccis, S., Trojano, M., Turla, M., Uccelli, A., Ulivelli, M., Valentino, P., Valeriani, M., Venturi, S., Vianello, M., Zaffaroni, M., Trojano, M, Bergamaschi, R, Amato, M, Comi, G, Ghezzi, A, Lepore, V, Marrosu, M, Mosconi, P, Patti, F, Ponzio, M, Zaratin, P, Battaglia, M, Acquistapace, D, Aguglia, U, Annunziata, P, Ardito, B, Avolio, C, Balgera, R, Bandini, F, Banfi, P, Barone, P, Bellantonio, P, Bertolotto, A, Bertora, P, Bombardi, R, Bosco Zimatore, G, Bossio, R, Bramanti, P, Brescia Morra, V, Brioschi, A, Bruzzone, M, Buccafusca, M, Busillo, V, Caneve, G, Caniatti, L, Capone, L, Capone, F, Cappellani, A, Cargnelutti, D, Cavaletti, G, Cavalla, P, Celani, M, Centonze, D, Chiveri, L, Clerici, R, Clerico, M, Cocco, E, Comi, C, Coniglio, M, Cordera, S, Corea, F, Cortese, A, Costantino, G, Cottone, S, Crociani, P, D’Andrea, F, Danni, M, De Luca, G, de Pascalis, D, De Robertis, F, De Stefano, N, Di Battista, G, Di Napoli, M, Falcini, M, Fausto, F, Ferrò, M, Florio, C, Fortunato, M, Frittelli, C, Galgani, S, Gallo, P, Gatto, M, Gazzola, P, Geda, C, Giordano, A, Granella, F, Grasso, M, Grimaldi, L, Imperiale, D, Lo Russo, L, Logullo, F, Lugaresi, A, Lus, G, Maccarrone, G, Maimone, D, Malagù, S, Marconi, R, Maritato, P, Massacesi, L, Mazzoni, M, Meucci, G, Mirabella, M, Montepietra, S, Nasuelli, D, Neri, W, Orefice, G, Parodi, S, Pasquali, L, Passarella, B, Peresson, M, Perla, F, Pesci, I, Piantadosi, C, Piras, M, Pizio, N, Pozzilli, C, Protti, A, Pugliatti, M, Quatrale, R, Ragno, M, Rezzonico, M, Ribizzi, G, Riva, M, Ronzoni, M, Rosso, M, Rottoli, M, Rovaris, M, Salemi, G, Salvetti, M, Santangelo, M, Santangelo, G, Santuccio, G, Sarchielli, P, Scarpini, E, Sechi, G, Severi, S, Sinisi, L, Sola, P, Spitaleri, D, Tassinari, T, Tedeschi, G, Tonietti, S, Torri Clerici, V, Totaro, R, Traccis, S, Turla, M, Uccelli, A, Ulivelli, M, Valentino, P, Valeriani, M, Venturi, S, Vianello, M, Zaffaroni, M, Trojano, Maria, Bergamaschi, Roberto, Amato, Maria Pia, Comi, Giancarlo, Ghezzi, Angelo, Lepore, Vito, Marrosu, Maria Giovanna, Mosconi, Paola, Patti, Francesco, Ponzio, Michela, Zaratin, Paola, Battaglia, Mario Alberto, Acquistapace, D., Aguglia, U., Amato, M. P., Annunziata, P., Ardito, B., Avolio, C., Balgera, R., Bandini, F., Banfi, P., Barone, P., Bellantonio, P., Bergamaschi, R., Bertolotto, A., Bertora, P., Bombardi, R., Bosco Zimatore, G., Bossio, R. B., Bramanti, P., Brescia Morra, V., Brioschi, A. M., Bruzzone, M., Buccafusca, M., Busillo, V., Caneve, G., Caniatti, L. M., Capone, L., Capone, F., Cappellani, A., Cargnelutti, D., Cavaletti, G., Cavalla, P., Celani, M. G., Centonze, D., Chiveri, L., Clerici, R., Clerico, M., Cocco, E., Comi, G., Comi, C., Coniglio, M. G., Cordera, S., Corea, F., Cortese, A., Costantino, G., Cottone, S., Crociani, P., D’Andrea, F., Danni, M. C., De Luca, G., de Pascalis, D., De Robertis, F., De Stefano, N., Di Battista, G., Di Napoli, M., Falcini, M., Fausto, F., Ferrò, M. T., Florio, C., Fortunato, M., Frittelli, C., Galgani, S., Gallo, P., Gatto, M., Gazzola, P., Geda, C., Giordano, A., Granella, F., Grasso, M. G., Grimaldi, L. M. E., Imperiale, D., Lo Russo, L., Logullo, F. O., Lugaresi, A., Lus, G., Maccarrone, G., Maimone, D., Malagù, S., Marconi, R., Maritato, P., Massacesi, L., Mazzoni, M., Meucci, G., Mirabella, M., Montepietra, S., Nasuelli, D., Neri, W., Orefice, G., Parodi, S., Pasquali, L., Passarella, B., Patti, F., Peresson, M., Perla, F., Pesci, I., Piantadosi, C., Piras, M. L., Pizio, N. R., Pozzilli, C., Protti, A., Pugliatti, M., Quatrale, R., Ragno, M., Rezzonico, M., Ribizzi, G., Riva, M., Ronzoni, M., Rosso, M. G., Rottoli, M., Rovaris, M., Salemi, G., Salvetti, M., Santangelo, M., Santangelo, G., Santuccio, G., Sarchielli, P., Scarpini, E., Sechi, G. P., Severi, S., Sinisi, L., Sola, P., Spitaleri, D., Tassinari, T., Tedeschi, G., Tonietti, S., Torri Clerici, V., Totaro, R., Traccis, S., Trojano, M., Turla, M., Uccelli, A., Ulivelli, M., Valentino, P., Valeriani, M., Venturi, S., Vianello, M., and Zaffaroni, M.

Abstract

The past decade has seen extraordinary increase in worldwide availability of and access to several large multiple sclerosis (MS) databases and registries. MS registries represent powerful tools to provide meaningful information on the burden, natural history, and long-term safety and effectiveness of treatments. Moreover, patients, physicians, industry, and policy makers have an active interest in real-world observational studies based on register data, as they have the potential to answer the questions that are most relevant to daily treatment decision-making. In 2014, the Italian MS Foundation, in collaboration with the Italian MS clinical centers, promoted and funded the creation of the Italian MS Register, a project in continuity with the existing Italian MS Database Network set up from 2001. Main objective of the Italian MS Register is to create an organized multicenter structure to collect data of all MS patients for better defining the disease epidemiology, improving quality of care, and promoting research projects in high-priority areas. The aim of this article is to present the current framework and network of the Italian MS register, including the methodology used to improve the quality of data collection and to facilitate the exchange of data and the collaboration among national and international groups.

Published
2019

3. Detection of disability worsening in relapsing-remitting multiple sclerosis patients: a real-world roving Expanded Disability Status Scale reference analysis from the Italian Multiple Sclerosis Register

Author

Lepore, V., Bosetti, C., Santucci, C., Iaffaldano, P., Trojano, M., Mosconi, P., Totaro, R., Coniglio, M. G., Bossio, R. B., Valentino, P., Gatto, M., Paolicelli, D., Ardito, B., Barcella, V., Capone, L., Nicolao, P., Lugaresi, A., Rini, A., Bianchi, M., Plasmati, I., Cocco, E., Docimo, R., De Luca, G., Mondino, F., Di Sapio, A., Clerici, R., Mascoli, N., Ferro, M. T., Chisari, C. G., Maimone, D., Strumia, S., Pugliatti, M., Cargnelutti, D., Caniatti, L. M., Avolio, C., Crociani, P., Amato, M. P., Massacesi, L., Malagu, S., Ribizzi, G., Inglese, M., Venturi, S., Gazzola, P., Pizio, N. R., Brichetto, G., Plewnia, K., Bellantonio, P., Balgera, R., De Robertis, F., Fermi, S., Fausto, F., Mazzoni, M., Meucci, G., Cartechini, E., Cavaletti, G., Buccafusca, M., Bramanti, P., Romeo, M., Rovaris, M., Ronzoni, M., Confalonieri, P., Chiveri, L., Bertora, P., Tonietti, S., De Riz, M., Protti, A., Sola, P., Maremmani, C., Lus, G., Gallo, A., Maniscalco, G. T., Morra, V. B., Cacchio, G., Iodice, R., Ragno, M., Sinisi, L., Cantello, R., Piras, M. L., Salemi, G., Cottone, S., Grimaldi, L. M. E., Corea, F., Santangelo, G., Immovili, P., Gallo, P., D'Andrea, F., Frittelli, C., Pasquali, L., Falcini, M., Granella, F., Pesci, I., Ancona, A. L., Bergamaschi, R., Di Napoli, M., Romano, S., Pozzilli, C., Mirabella, Massimiliano, Conte, A., Galgani, S., Peresson, M., Grasso, M. G., Ferraro, E., Capone, F., Marfia, G. A., de Pascalis, D., Piantadosi, C., Valeriani, M., Busillo, V., Barone, P., De Stefano, N., Ulivelli, M., Santuccio, G., Parodi, S., Bucello, S., Traccis, S., Zarbo, R., Tassinari, T., Bandini, F., Cavalla, P., Clerico, M., De Rosa, G., Bertolotto, A., Imperiale, D., Sarchielli, P., Celani, M. G., Vianello, M., Marini, B., Fortunato, M., Zaffaroni, M., Nasuelli, D., Banfi, P., Brioschi, A. M., Solaro, C., Quatrale, R., Rossi, P., Gajofatto, A., Battaglia, M. A., Capobianco, M., Patti, F., Comi, G., Giordano, A., Mirabella M. (ORCID:0000-0002-7783-114X), Lepore, V., Bosetti, C., Santucci, C., Iaffaldano, P., Trojano, M., Mosconi, P., Totaro, R., Coniglio, M. G., Bossio, R. B., Valentino, P., Gatto, M., Paolicelli, D., Ardito, B., Barcella, V., Capone, L., Nicolao, P., Lugaresi, A., Rini, A., Bianchi, M., Plasmati, I., Cocco, E., Docimo, R., De Luca, G., Mondino, F., Di Sapio, A., Clerici, R., Mascoli, N., Ferro, M. T., Chisari, C. G., Maimone, D., Strumia, S., Pugliatti, M., Cargnelutti, D., Caniatti, L. M., Avolio, C., Crociani, P., Amato, M. P., Massacesi, L., Malagu, S., Ribizzi, G., Inglese, M., Venturi, S., Gazzola, P., Pizio, N. R., Brichetto, G., Plewnia, K., Bellantonio, P., Balgera, R., De Robertis, F., Fermi, S., Fausto, F., Mazzoni, M., Meucci, G., Cartechini, E., Cavaletti, G., Buccafusca, M., Bramanti, P., Romeo, M., Rovaris, M., Ronzoni, M., Confalonieri, P., Chiveri, L., Bertora, P., Tonietti, S., De Riz, M., Protti, A., Sola, P., Maremmani, C., Lus, G., Gallo, A., Maniscalco, G. T., Morra, V. B., Cacchio, G., Iodice, R., Ragno, M., Sinisi, L., Cantello, R., Piras, M. L., Salemi, G., Cottone, S., Grimaldi, L. M. E., Corea, F., Santangelo, G., Immovili, P., Gallo, P., D'Andrea, F., Frittelli, C., Pasquali, L., Falcini, M., Granella, F., Pesci, I., Ancona, A. L., Bergamaschi, R., Di Napoli, M., Romano, S., Pozzilli, C., Mirabella, Massimiliano, Conte, A., Galgani, S., Peresson, M., Grasso, M. G., Ferraro, E., Capone, F., Marfia, G. A., de Pascalis, D., Piantadosi, C., Valeriani, M., Busillo, V., Barone, P., De Stefano, N., Ulivelli, M., Santuccio, G., Parodi, S., Bucello, S., Traccis, S., Zarbo, R., Tassinari, T., Bandini, F., Cavalla, P., Clerico, M., De Rosa, G., Bertolotto, A., Imperiale, D., Sarchielli, P., Celani, M. G., Vianello, M., Marini, B., Fortunato, M., Zaffaroni, M., Nasuelli, D., Banfi, P., Brioschi, A. M., Solaro, C., Quatrale, R., Rossi, P., Gajofatto, A., Battaglia, M. A., Capobianco, M., Patti, F., Comi, G., Giordano, A., and Mirabella M. (ORCID:0000-0002-7783-114X)

Abstract

Background and purpose: In relapsing-remitting multiple sclerosis patients (RRMS) disability progressively accumulates over time. To compare the cumulative probability of 6-month confirmed disability-worsening events using a fixed baseline or a roving Expanded Disability Status Scale (EDSS) reference, in a real-world setting. Methods: A cohort of 7964 RRMS patients followed for 2 or more years, with EDSS scores recorded every 6 months, was selected from the Italian Multiple Sclerosis Register. The overall probability of confirmed disability-worsening events and of confirmed disability-worsening events unrelated to relapse was evaluated using as reference a fixed baseline EDSS score or a roving EDSS score in which the increase had to be separated from the last EDSS assessment by at least 6 or 12 months. Results: Using a fixed baseline EDSS reference, the cumulative probability of 6-year overall confirmed disability-worsening events was 33.2%, and that of events unrelated to relapse was 10.9% (33% of overall confirmed disability-worsening events). Using a roving EDSS, the proportions were respectively 35.2% and 21.3% (61% of overall confirmed disability-worsening events). Conclusions: In a real-world setting, roving EDSS reference scores appear to be more sensitive for detecting confirmed disability-worsening events unrelated to relapse in RRMS patients.

Published
2020

7. A 12-month prospective, observational study evaluating the impact of disease-modifying treatment on emotional burden in recently-diagnosed multiple sclerosis patients: The POSIDONIA study

Author

Montanari, E., Rottoli, M., Maimone, D., Confalonieri, P., Plewnia, K., Frigo, M., Francia, A., Pala, A., Losignore, N. A., Ragonese, P., Veneziano, A., Traccis, S., Bosco, G., Dotta, M., Severi, S., Ragno, M., Candeago, R. M., Feleppa, M., Stecchi, S., Bosco, D., Tola, M. R., Massacesi, Luca, Costantino, G., Solaro, C. M., Serrati, C., Totaro, R., Coniglio, M. G., Scarpini, E., Zuliani, C., Perla, F., Ticca, A., Cottone, S., Iudice, A., Koudriavteva, T., Di Battista, G., Gasperini, C., Perin, C., Meola, G., Pugliatti, M., Bandini, F., Cavalla, P., Posteraro, F., Consoli, D., Montanari E, Rottoli M, Maimone D, Confalonieri P, Plewnia K, Frigo M, Francia A, Pala A, Losignore NA, Ragonese P, Veneziano A, and POSIDONIA study group

Subjects
Male, Psychometrics, Anxiety, Hospital Anxiety and Depression Scale, 0302 clinical medicine, Immunologic Factor, Multiple sclerosis, Disease-modifying treatment, Emotional burden, Anxiety, Depression, Multiple Sclerosi, Disease-modifying treatment, 030212 general & internal medicine, Prospective Studies, Prospective cohort study, Depression (differential diagnoses), Depression, Middle Aged, Psychiatric Status Rating Scale, Treatment Outcome, Italy, Neurology, Female, Settore MED/26 - Neurologia, medicine.symptom, Psychology, Psychometric, Human, Adult, medicine.medical_specialty, Multiple Sclerosis, Mood Disorder, Adolescent, Logistic Model, 03 medical and health sciences, Young Adult, Rating scale, medicine, Humans, Immunologic Factors, Aged, Psychiatric Status Rating Scales, Mood Disorders, medicine.disease, Prospective Studie, Logistic Models, Mood disorders, Physical therapy, Emotional burden, Observational study, Neurology (clinical), 030217 neurology & neurosurgery
Abstract

Introduction Depression and anxiety are common among patients with multiple sclerosis (MS) and are frequently present at the time of MS diagnosis. Methods POSIDONIA was a 12-month, observational, prospective study conducted in Italy to evaluate the impact of disease-modifying treatment (DMT) on emotional burden in patients with recently-diagnosed MS. The Hospital Anxiety and Depression Scale (HADS), specifically HADS anxiety (HADS-A) and depression (HADS-D) subscale scores, the Short-Form 36 Health Survey (SF-36) and the Impact of Event Scale – Revised (IES-R) were used to measure patient-reported outcomes. The Hamilton Depression Rating Scale (HDRS), HDRS-17, was used as a measure of healthcare provider-reported outcomes. The primary study outcome was change from baseline in feelings of anxiety and depression over 12 months (via HADS). Results Of 250 enrolled patients, 222 (88.8%) completed the study. At baseline, mean HADS total, HADS-A and HADS-D subscale scores were within the normal range. There were no significant changes over time in mean HADS total and HADS-A and HADS-D subscale scores, although the subgroup of patients with baseline scores indicative of anxiety or depression tended to improve over time. Both the HDRS and IES-R total scores improved over time, but there were no statistically significant changes in SF-36. Conclusion In the patient population of the POSIDONIA study depression and anxiety were present in a minority of patients thus not allowing to detect the impact of starting DMT. However DMT appears to have a positive effect in patients with measurable anxiety or depression at baseline.

Published
2016

8. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

Author

Chiò, A, Mora, G, Sabatelli, M, Caponnetto, C, Traynor, B. J, Johnson, J. O, Nalls, M. A, Calvo, A, Moglia, C, Borghero, G, Monsurrò, M. R, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F. O, Nilo, R, Battistini, S, Mandrioli, J, Tanel, R, Murru, M. R, Mandich, P, Zollino, M, Conforti, F. L, Brunetti, M, Barberis, M, Restagno, G, Penco, S, Lunetta, C, Giannini, F, Ricci, C, Mancardi, G, Bartolomei, I, Corbo, M, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Ossola, I, Logroscino, G, Tedeschi, G, Pugliatti, M, Pinter, G. L, Glynn, S, Gibbs, J. R, Cammarosano, S, Canosa, A, Manera, U, Bertuzzo, D, Ilardi, A, Marinou, K, Sideri, R, Pisano, F, Spataro, R, Colletti, T, Floris, G, Cannas, A, Piras, V, Marrosu, F, Marrosu, M. G, Parish, L. D, Ticca, A, Pirisi, A, Ortu, E, Cau, T. B, Loi, D, Traccis, S, Fini, N, Georgoulopoulou, E, Casale, F, Marrali, G, Fuda, G, Solamone, P, Maestri, E, Mazzei, R, Cristillo, V, Puddu, R, Costantino, E, Pani, C, Caredda, C, Origone, P, Mosca, L, Capasso, M, Turri, M, Petrucci, A, Tremolizzo, L, Santarelli, M., Chiò, A, Mora, G, Sabatelli, M, Caponnetto, C, Traynor, B, Johnson, J, Nalls, M, Calvo, A, Moglia, C, Borghero, G, Monsurrò, M, La Bella, V, Volanti, P, Simone, I, Salvi, F, Logullo, F, Nilo, R, Battistini, S, Mandrioli, J, Tanel, R, Murru, M, Mandich, P, Zollino, M, Conforti, F, Brunetti, M, Barberis, M, Restagno, G, Penco, S, Lunetta, C, Giannini, F, Ricci, C, Mancardi, G, Bartolomei, I, Corbo, M, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Ossola, I, Logroscino, G, Tedeschi, G, Pugliatti, M, Pinter, G, Glynn, S, Gibbs, J, Cammarosano, S, Canosa, A, Manera, U, Bertuzzo, D, Ilardi, A, Marinou, K, Sideri, R, Pisano, F, Spataro, R, Colletti, T, Floris, G, Cannas, A, Piras, V, Marrosu, F, Marrosu, M, Parish, L, Ticca, A, Pirisi, A, Ortu, E, Cau, T, Loi, D, Traccis, S, Fini, N, Georgoulopoulou, E, Casale, F, Marrali, G, Fuda, G, Solamone, P, Maestri, E, Mazzei, R, Cristillo, V, Puddu, R, Costantino, E, Pani, C, Caredda, C, Origone, P, Mosca, L, Capasso, M, Turri, M, Petrucci, A, Tremolizzo, L, Santarelli, M, Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurro', Maria Rosaria, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Nilo, Riva, Battistini, Stefania, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L., Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Penco, Silvana, Lunetta, Christian, Giannini, Fabio, Ricci, Claudia, Mancardi, Gianluigi, Bartolomei, Ilaria, Corbo, Massimo, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Ossola, Irene, Logroscino, Giancarlo, Tedeschi, Gioacchino, Pugliatti, Maura, Pinter, Giuseppe Lauria, Glynn, Shannon, Gibbs, J. Raphael, Cammarosano, Stefania, Canosa, Antonio, Manera, Umberto, Bertuzzo, Davide, Ilardi, Altonio, Marinou, Kalliopi, Sideri, Riccardo, Pisano, Fabrizio, Spataro, Rossella, Colletti, Tiziana, Floris, Gianluca, Cannas, Antonino, Piras, Valeria, Marrosu, Francesco, Marrosu, Maria Giovanna, Parish, Leslie D., Ticca, Anna, Pirisi, Angelo, Ortu, Enzo, Cau, Tea B., Loi, Daniela, Traccis, Sebastiano, Fini, Nicola, Georgoulopoulou, Eleni, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Solamone, Paolina, Maestri, Eleonora, Mazzei, Rosalucia, Cristillo, Viviana, Puddu, Roberta, Costantino, Emanuela, Pani, Carla, Caredda, Carla, Origone, Paola, Mosca, Lorena, Capasso, Margherita, Turri, Mara, Petrucci, Antonio, Tremolizzo, Luico, Santarelli, Marialaura, Chiò, A., Mora, G., Sabatelli, M., Caponnetto, C., Traynor, B., Johnson, J., Nalls, M., Calvo, A., Moglia, C., Borghero, G., Monsurrò, M., LA BELLA, V., Volanti, P., Simone, I., Salvi, F., Logullo, F., Nilo, R., Battistini, S., Mandrioli, J., Tanel, R., Murru, M., Mandich, P., Zollino, M., Conforti, F., Brunetti, M., Barberis, M., Restagno, G., Penco, S., Lunetta, C., Giannini, F., Ricci, C., Mancardi, G., Bartolomei, I., Corbo, M., Conte, A., Luigetti, M., Lattante, S., Marangi, G., Ossola, I., Logroscino, G., Tedeschi, G., Pugliatti, M., Pinter, G., Glynn, S., Gibbs, J., Cammarosano, S., Canosa, A., Manera, U., Bertuzzo, D., Ilardi, A., Marinou, K., Sideri, R., Pisano, F., Spataro, R., Colletti, T., Floris, G., Cannas, A., Piras, V., Marrosu, F., Marrosu, M., Parish, L., Ticca, A., Pirisi, A., Ortu, E., Cau, T., Loi, D., Traccis, S., Fini, N., Georgoulopoulou, E., Casale, F., Marrali, G., Fuda, G., Solamone, P., Maestri, E., Mazzei, R., Cristillo, V., Puddu, R., Costantino, E., Pani, C., Caredda, C., Origone, P., Mosca, L., Capasso, M., Turri, M., Petrucci, A., Tremolizzo, L., and Santarelli, M.

Subjects
Male, Aging, Pediatrics, medicine.medical_specialty, Pathology, Amyotrophic lateral sclerosis, CHCHD10, Familial, Sporadic, Aged, Amyotrophic Lateral Sclerosis, Cohort Studies, Female, Frontotemporal Dementia, Genetic Predisposition to Disease, Humans, Italy, Middle Aged, Mitochondrial Proteins, Genetic Association Studies, Mutation, Genetic Association Studie, Disease, Settore MED/03 - GENETICA MEDICA, medicine.disease_cause, Exon, mental disorders, medicine, Mitochondrial Protein, Dementia, Neurology (clinical), Neuroscience (all), Developmental Biology, Geriatrics and Gerontology, Amyotrophic lateral sclerosi, business.industry, General Neuroscience, medicine.disease, 3. Good health, Cohort, Cohort Studie, business, Human, Frontotemporal dementia, Cohort study
Abstract

Mutations in CHCHD10 have recently been described as a cause of frontotemporal dementia (FTD) comorbid with amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the frequency and clinical characteristics of CHCHD10 mutations in Italian patients diagnosed with familial (n= 64) and apparently sporadic ALS (n= 224). Three apparently sporadic patients were found to carry c.100C>T (p.Pro34Ser) heterozygous variant in the exon 2 of CHCHD10. This mutation had been previously described in 2 unrelated French patients with FTD-ALS. However, our patients had a typical ALS, without evidence of FTD, cerebellar or extrapyramidal signs, or sensorineural deficits. We confirm that CHCHD10 mutations account for ~1% of Italian ALS patients and are a cause of disease in subjects without dementia or other atypical clinical signs.

Published
2015

9. Implementation of the 'Sapere Migliora' information aid for newly diagnosed people with multiple sclerosis in routine clinical practice: a late-phase controlled trial

Author

Giordano A, Martinelli V, Lugaresi A, Pucci E, Granella F, Trojano M, Solari A, Messmer Uccelli M, Ferrari G, Martini F, Radice D, D'Annunzio G, Farina D, Travaglini D, Pietrolongo E, Onofrj M, Torri Clerici V, Bonanno S, Brambilla L, Confalonieri P, Radaelli M, Messina J, Comi G, Tortorella C, Luciannatelli E, Senesi C, Tsantes E, Conti M, Rottoli M, Bellantonio P, Fischetti M, Fantozzi R, Pala A, Traccis S, Di Battista G, Bianchi M, Benedetti M, Gaetani L, Di Filippo M, Carolei A, Totaro R, Lanzillo R, Brescia Morra V, Coppola R, Cottone S, Chiavazza C, Cavalla P, Leonardi C, Aguglia U, Ziuliani C, Valla P, Sasanelli F, Valentino P, Quattrone A, Martino PG, Russo M, Vita G, Immovilli P., Giordano A, Lugaresi A, Confalonieri P, Granella F, Radice D, Trojano M, Martinelli V, Solari A, on behalf of the SIMS-Practice groupa, Giordano, A, Lugaresi, A, Confalonieri, P, Granella, F, Radice, D, Trojano, M, Comi, Giancarlo, on behalf of the SIMS Practice, Group, and Radaelli, Marta

Subjects
Adult, Male, medicine.medical_specialty, Health Knowledge, Attitudes, Practice, Multiple Sclerosis, Adolescent, patient satisfaction, Health literacy, Group B, law.invention, Interviews as Topic, Young Adult, Patient satisfaction, complex health intervention, Randomized controlled trial, Patient Education as Topic, law, Surveys and Questionnaires, Multiple Sclerosi, Clinical endpoint, Medicine, Humans, Prospective Studies, Young adult, Prospective cohort study, disease knowledge, information aid, Internet, business.industry, Multiple sclerosis, multiple sclerosis, clinical practice, Middle Aged, medicine.disease, Health Literacy, Treatment Outcome, Neurology, Italy, Physical therapy, Female, Pamphlets, Neurology (clinical), business, Comprehension
Abstract

Background: The SIMS-Trial showed that the ‘Sapere Migliora’ information aid (IA) for newly diagnosed people with multiple sclerosis (PwMS) effectively improved patient knowledge and satisfaction with care. Objectives: The objectives of this paper are to assess the effectiveness of the IA in clinical practice and to compare the whole IA with the take-home booklet/website component alone. Methods: After updating the IA and replacing the CD with a website, a prospective, open-label non-randomised controlled trial compared the whole IA (group A, five SIMS-Trial centres) to take-home (group B, 16 centres). One month after the intervention, participants completed the MS Knowledge Questionnaire (MSKQ), care satisfaction questionnaire (COSM-R) (primary study outcomes), Hospital and Anxiety Depression Scale, and ad hoc questionnaire appraising the IA. Results: We enrolled 159 newly diagnosed PwMS (May 2012–March 2013). Drop-outs were four of 77 (5%, group A) and 11/82 (13%, group B). Primary endpoint (highest tertile both for MSKQ and COSM-R section 2 scores) was achieved by 38/77 (49%) group A and 33/82 (40%) group B ( p = 0.25). Attainment of secondary outcomes was also similar between groups. Conclusions: This study shows that the entire IA is not superior to the booklet/website alone, and that both are comparable in efficacy to the intervention arm of the SIMS-Trial. Trial registration number: ISRCTN78940214.

Published
2014

10. Implementation of the 'Sapere Migliora' information aid for newly diagnosed people with multiple sclerosis in routine clinical practice: a late-phase controlled trial

Author

Giordano, A, Lugaresi, A, Confalonieri, P, Granella, F, Radice, D, Trojano, M, Martinelli, V, Pucci E, Solari A., Messmer Uccelli, M, Ferrari, G, Martini, F, D'Annunzio, G, Farina, D, Travaglini, D, Pietrolongo, E, Onofrj, M, Torri Clerici, V, Bonanno, S, Brambilla, L, Radaelli, M, Messina, J, Comi, G, Tortorella, C, Luciannatelli, E, Senesi, C, Tsantes, E, Conti, M, Rottoli, M, Bellantonio, P, Fischetti, M, Fantozzi, R, Pala, A, Traccis, S, Di Battista, G, Bianchi, M, Benedetti, M, Gaetani, L, Di Filippo, M, Carolei, A, Totaro, R, Lanzillo, R, Brescia Morra, V, Coppola, R, Cottone, S, Chiavazza, C, Cavalla, P, Leonardi, C, Aguglia, U, Ziuliani, C, Valla, P, Sasanelli, F, Valentino, P, Quattrone, A, Martino, Pg, Russo, M, Vita, Giuseppe, and Immovilli, P.

Subjects
Multiple sclerosis, complex health intervention, Multiple sclerosis, complex health intervention, information aid, disease knowledge, patient satisfaction, clinical practice, patient satisfaction, disease knowledge, information aid, clinical practice
Published
2014

11. ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

Author

Borghero, G, Pugliatti, M, Marrosu, F, Marrosu, Mg, Murru, Mr, Floris, G, Cannas, A, Parish, Ld, Cau, Tb, Loi, D, Ticca, A, Traccis, S, Manera, U, Canosa, A, Moglia, C, Calvo, A, Barberis, M, Brunetti, M, Renton, Ae, Nalls, Ma, Traynor, Bj, Restagno, G, Chiò, A, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Zollino, Marcella (ORCID:0000-0003-4871-9519), Luigetti, Marco (ORCID:0000-0001-7539-505X), Lattante, Serena (ORCID:0000-0003-2891-0340), Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Borghero, G, Pugliatti, M, Marrosu, F, Marrosu, Mg, Murru, Mr, Floris, G, Cannas, A, Parish, Ld, Cau, Tb, Loi, D, Ticca, A, Traccis, S, Manera, U, Canosa, A, Moglia, C, Calvo, A, Barberis, M, Brunetti, M, Renton, Ae, Nalls, Ma, Traynor, Bj, Restagno, G, Chiò, A, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Zollino, Marcella (ORCID:0000-0003-4871-9519), Luigetti, Marco (ORCID:0000-0001-7539-505X), Lattante, Serena (ORCID:0000-0003-2891-0340), and Marangi, Giuseppe (ORCID:0000-0002-6898-8882)

Abstract

Intermediate-length CAG expansions (encoding 27-33 glutamines, polyQ) of the Ataxin2 (ATXN2) gene represent a risk factor for amyotrophic lateral sclerosis (ALS). Recently, it has been proposed that ≥31 CAG expansions may influence ALS phenotype. We assessed whether ATXN2 intermediate-length polyQ expansions influence ALS phenotype in a series of 375 patients of Sardinian ancestry. Controls were 247 neurologically healthy subjects, resident in the study area, age- and gender-matched to cases. The frequency of ≥31 polyQ ATNX2 repeats was significantly more common in ALS cases (4 patients vs. no control, p = 0.0001). All patients with ≥31 polyQ repeats had a spinal onset versus 73.3% of patients with <31 polyQ repeats. Patients with an increased number of polyQ repeats have a shorter survival than those with <31 repeats (1.2 vs. 4.2 years, p = 0.035). In this large series of ALS patients of Sardinian ancestry, we have found that ≥31 polyQ repeats of the ATXN2 gene influenced patients' phenotype, being associated to a spinal onset and a significantly shorter survival.

Published
2015

12. TBK1 is associated with ALS and ALS-FTD in Sardinian patients

Author

Borghero, G, Pugliatti, M, Marrosu, F, Marrosu, M, Murru, M, Floris, G, Cannas, A, Occhineri, P, Cau, T, Loi, D, Ticca, A, Traccis, S, Manera, U, Canosa, A, Moglia, C, Calvo, A, Barberis, M, Brunetti, M, Gibbs, J, Renton, A, Errichiello, E, Zoledziewska, M, Mulas, A, Qian, Y, Din, J, Pliner, H, Traynor, B, Chiò, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Capasso, M, Caponnetto, C, Mandich, P, Mancardi, G, Origone, P, Conforti, F, Vita, G, Messina, S, Russo, M, Mora, G, Marinou, K, Sideri, R, Lunetta, C, Penco, S, Mosca, L, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Tremolizzo, L, Ferrarese, C, Fini, N, Fasano, A, Monsurrò, M, Tedeschi, G, Trojsi, F, Piccirillo, G, Cristillo, V, Mazzini, L, D'Alfonso, S, Bersano, A, Corrado, L, Bagarotti, A, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Bertuzzo, D, Tanel, R, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Pirisi, A, Parish, L, Ortu, E, Ortu, E., TREMOLIZZO, LUCIO, FERRARESE, CARLO, Borghero, G, Pugliatti, M, Marrosu, F, Marrosu, M, Murru, M, Floris, G, Cannas, A, Occhineri, P, Cau, T, Loi, D, Ticca, A, Traccis, S, Manera, U, Canosa, A, Moglia, C, Calvo, A, Barberis, M, Brunetti, M, Gibbs, J, Renton, A, Errichiello, E, Zoledziewska, M, Mulas, A, Qian, Y, Din, J, Pliner, H, Traynor, B, Chiò, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Capasso, M, Caponnetto, C, Mandich, P, Mancardi, G, Origone, P, Conforti, F, Vita, G, Messina, S, Russo, M, Mora, G, Marinou, K, Sideri, R, Lunetta, C, Penco, S, Mosca, L, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Tremolizzo, L, Ferrarese, C, Fini, N, Fasano, A, Monsurrò, M, Tedeschi, G, Trojsi, F, Piccirillo, G, Cristillo, V, Mazzini, L, D'Alfonso, S, Bersano, A, Corrado, L, Bagarotti, A, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Marangi, G, Santarelli, M, Petrucci, A, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Ilardi, A, Bertuzzo, D, Tanel, R, Pisano, F, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Pirisi, A, Parish, L, Ortu, E, Ortu, E., TREMOLIZZO, LUCIO, and FERRARESE, CARLO

Abstract

Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia. We have assessed the frequency and clinical characteristics of TBK1 mutations in a cohort of ALS patients of Sardinian ancestry. Whole-exome sequencing was performed on Hiseq2000 platform (Illumina). Genome analysis Toolkit was used to align and to code variants according to Human Genome (UCSC hg19). Mutation was confirmed with Sanger sequence. In our screening of 186 Sardinian ALS cases, we found 3 (1.6%) patients carrying 3 distinct novel genetic variants: a nonsynonymous SNV c.1150C>T leading to a p.Arg384Thr change in exon 9; a nonsynonymous SNV c.1331G>A causes a p.Arg444Gln change in exon 11; and a frameshift deletion c.2070delG (p.Met690fs) at the exon 20 of the gene leading to a stop at 693 codon. The latter patients also carried missense mutation c.98C>T of the SQSTM1 gene causing a substitution of an arginine with a valine at the position 33 (p.Arg33Val). All variants were found to be deleterious according to in silico predictions. All cases were apparently sporadic and one of them showed frontotemporal dementia associated to ALS. These mutations were not found in 2 cohorts of 6780 ethnic-matched controls. We have found that TBK1 mutations account for 1.6% of Sardinian ALS cases. Our data support the notion that TBK1 is a novel ALS gene, providing important evidence complementary to the first descriptions.

Published
2015

16. Low Ankle-brachial index predicts an adverse 1-year outcome after acute coronary and cerebrovascular events

Author

Agnelli, G., Cimminiello, C., Meneghetti, G., Urbinati, S., Cappielo, E., Bazzi, P., Arpaia, G., Santamaria, M. G., Tassara, R. I., Rebuttato, A. I., Perna, G. P., Gabrielli, D., Ruga, O., Moretti, L., Gregori, G., Marconi, M. K., Burali, A., DE LUCA, I. M., Ciriello, N. M., Ciampa, G. N., Pitscheider, W., Tomaino, M., Poma, E., Poggio, G., Spissu, A., Melis, A., Pinna, L., Lastilla, M., Bonaventura, A. R., Visonà, A. S., Tonello, D. S., Pennisi, G., Bella, R, Santonocito, D., Borrello, G. U., Mazza, M. L., Mattoscio, N., Garzaro, L., Pinneri, F., Zarcone, D., Lanfranchi, S., Moretti, V., Busettini, G., Bordin, P., Delfino, R. Z., Zingarelli, A., Caroppo, E. A., Puccetti, I. A., Orlandi, M., Losi, L., DE CAROLIS, P., Zanini, R., Cionini, F., Viecca, M., Lazzaroni, A., Satta, T., Manenti, V., Basile, G., Tuccillo, B., Accadia, M., Piatto, A., Annunziata, L., Mandarini, A., Androne, V. A., Traccis, S. A., Ottina, M., D'Angelo, A., Fazio, M., Damiani, L. A., Lupo, I., Savettieri, G., DEL PINTO, M., Notaristefano, S., Imberti, D., Tartarin, G., Lucarini, A., Topi, A., D'Anna, S., Saccardi, M., Paciello, M. A., Tordini, G., D'Arienzo, E., Piovaccari, G., Pesaresi, A., Amabile, G., Fiermonte, G., Gallù, M. C., Fontana, L., Ferri, F., Curatola, L., Gobbato, R., Paci, C., Simone, P., DI VIESTI, P., Tonizzo, M., LI VOLSI, P., Gionco, M., Onofri, M., Scorzoni, D., Grimoldi, P., Dentali, F., Ageno, W., Venco, A., and Grillo, G.

Subjects
Male, Brachial Artery, Myocardial Infarction, Blood Pressure, Coronary Disease, Cohort Studies, Angina, Odds Ratio, Prospective Studies, Myocardial infarction, Transient ischemic attack, Prospective cohort study, Stroke, Acute myocardial infarction, Ankle-brachial index, Atherosclerosis, Unstable angina, Acute Disease, Aged, Angina, Unstable, Ankle, Cerebrovascular Disorders, Female, Follow-Up Studies, Hospitalization, Humans, Ischemic Attack, Transient, Italy, Predictive Value of Tests, Prognosis, Regression Analysis, Survival Analysis, Syndrome, Hematology, Ischemic Attack, Transient, Predictive value of tests, cardiovascular system, Cardiology, medicine.symptom, medicine.medical_specialty, Unstable, Asymptomatic, Internal medicine, medicine, cardiovascular diseases, business.industry, Odds ratio, medicine.disease, body regions, business, human activities
Abstract

Summary. Background: Low ankle–brachial Index (ABI) identifies patients with symptomatic and asymptomatic peripheral arterial disease. The aim of this study was to correlate ABI value (normal or low) with 1-year clinical outcome in patients hospitalized for acute coronary syndromes or cerebrovascular diseases (CVD). Methods: ABI was measured in consecutive patients hospitalized because of acute myocardial infarction, unstable angina, stroke or transient ischemic attack (TIA). An ABI lower than or equal to 0.90 was considered abnormal. The primary outcome of the study was the composite of non-fatal acute myocardial infarction, non-fatal ischemic stroke, and death from any cause during the year following the index event. Results: An abnormal ABI was found in 27.2% of 1003 patients with acute coronary syndromes, and in 33.5% of 755 patients with acute CVD. After a median follow-up of 372 days, the frequency of the primary outcome was 10.8% (57/526) in patients with abnormal ABI and 5.9% (73/1232) in patients with normal ABI [odds ratio (OR) 1.96; 95% CI 1.36–2.81]. Death was more common in patients with abnormal ABI (OR 2.05; 95% CI 1.31–3.22). Cardiovascular mortality accounted for 81.7% of overall mortality. ABI was predictive of adverse outcome after adjustment for vascular risk factors in the logistic regression analysis (OR 1.93; 95% CI 1.24–3.01). The predictive value of ABI was mainly accounted for by patients hospitalized for acute coronary syndromes (adverse outcome: 12.8% in patients with abnormal ABI and 5.9% in patients with normal ABI, OR 2.35; 95% CI 1.47–3.76). Conclusions: An abnormal ABI can be found in one-third of patients hospitalized for acute coronary or cerebrovascular events and is a predictor of an adverse 1-year outcome.

Published
2006

26. Neuromuscular transmission impairment and multiple sclerosis

Author

Aiello, I., primary, Sau, G.F., additional, Pastorino, M., additional, Balsamo, P., additional, Murgia, B., additional, Corda, D., additional, Pugliatti, M., additional, Magnano, I., additional, Traccis, S., additional, Masala, P.G., additional, and Rosati, G., additional

Published
1995
Full Text
View/download PDF

38. [Anticonvulsant action of pargyropyranone in various models of experimental epilepsy in the cat]

Author

Mutani, Roberto, Durelli, L., Piredda, S., Sechi, Gp, and Traccis, S.

Subjects
Cerebral Cortex, Estrogens, Conjugated (USP), Coumarins, Seizures, Cats, Animals, Anticonvulsants, Penicillin G, Cobalt
Abstract

The new anticonvulsant drug pargypiranone was studied in different models of experimental epilepsy in cat (penicillin and Premarin cortical focus, cobalt cortical focus, penicillin generalized epilepsy). The drug proved to possess a strong anticonvulsant effect upon focal electroclinical phenomena and a poor effect on penicillin generalized epilepsy. It seems probably that pargypyranone has a valid effect on partial epileptic seizures.

Published
1982

Catalog

Books, media, physical & digital resources
See catalog results