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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

7. Variable phenotype in a P102L Gerstmann-Straussler-Scheinker Italian family

Author

DE MICHELE, GIUSEPPE, SACCA', FRANCESCO, BARBIERI, FABRIZIO, FILLA, ALESSANDRO, POCCHIARI M, PETRAROLI R, MANFREDI M, CANEVE G, COPPOLA G, CASALI C, BERARDELLI A, GHETTI B, DE MICHELE, Giuseppe, Pocchiari, M, Petraroli, R, Manfredi, M, Caneve, G, Coppola, G, Casali, C, Sacca', Francesco, Berardelli, A, Barbieri, Fabrizio, Ghetti, B, and Filla, Alessandro

Abstract

Background: Gerstmann-Straussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs. Methods: We report a new large Italian family affected by Gerstmann-Straussler-Scheinker disease. Results: The four generation pedigree includes 11 patients. The mean age at onset +/-SD was 41.4 +/- 16.2 years. Mean disease duration to death in four patients was 5.5 +/- 1.7 years. Two clinical patterns were evident: cognitive impairment with scarce neurological features or ataxia followed by cognitive impairment. Molecular analysis showed P102L mutation in PRNP gene. Conclusion: Three Italian families have been reported to date. The variable phenotype has already been reported, and does not appear related to the codon 129 polymorphism.

Published
2003

12. Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family

Author

Carlo Casali, Bernardino Ghetti, Marcello Orio, Francesco Saccà, Giovanni Coppola, Pedro Piccardo, Giorgio Caneve, Fabrizio Barbieri, Elena Salvatore, Mario Manfredi, Alfredo Berardelli, Maurizio Pocchiari, Rossella Petraroli, Alessandro Filla, Giuseppe De Michele, DE MICHELE, Giuseppe, Pocchiari, M, Petraroli, R, Manfredi, M, Caneve, G, Coppola, G, Casali, C, Sacca', Francesco, Piccardo, P, Salvatore, Elena, Berardelli, A, Orio, M, Barbieri, Fabrizio, Ghetti, B, and Filla, Alessandro

Subjects
Adult, Male, Amyloid, Prions, Prion Proteins, Central nervous system disease, Cerebellum, Variable phenotype, medicine, Gerstmann-Straussler-Scheinker Disease, Humans, Protein Precursors, Aged, business.industry, General Medicine, medicine.disease, Magnetic Resonance Imaging, Gerstmann–Sträussler–Scheinker syndrome, Molecular biology, Pedigree, Phenotype, Italy, Neurology, Mutation, Ataxia, Female, Neurology (clinical), Cognition Disorders, business
Abstract

Background:Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs.Methods:We report a new large Italian family affected by Gerstmann-Sträussler-Scheinker disease.Results:The four generation pedigree includes 11 patients. The mean age at onset ± SD was 41.4 ± 16.2 years. Mean disease duration to death in four patients was 5.5 ± 1.7 years. Two clinical patterns were evident: cognitive impairment with scarce neurological features or ataxia followed by cognitive impairment. Molecular analysis showed P102L mutation in PRNP gene.Conclusion:Three Italian families have been reported to date. The variable phenotype has already been reported, and does not appear related to the codon 129 polymorphism.

13. Stroke management during the coronavirus disease 2019 (COVID-19) pandemic: experience from three regions of the north east of Italy (Veneto, Friuli-Venezia-Giulia, Trentino-Alto-Adige).

Author

Manganotti P, Naccarato M, Scali I, Cappellari M, Bonetti B, Burlina A, Turinese E, Bogo S, Teatini F, Franchini E, Caneve G, Ruzza G, Gaudenzi A, Bombardi R, Bozzato G, Padoan R, Gentile C, Rana M, Turazzini M, Alessandra D, Brigo F, Nardone R, Quatrale R, Menegazzo E, Masato M, Novello S, Passadore P, Baldi A, Valentinis L, Baracchini C, Pieroni A, Basile AM, Semplicini C, Piffer S, Giometto B, Tonello S, Bonifatti DM, Lorenzut S, Merlino G, Valente MR, Paladin F, Tonon A, de Luca C, Perini F, Centonze S, and Bovi P

Subjects
Communicable Disease Control, Humans, Italy epidemiology, Pandemics, Retrospective Studies, SARS-CoV-2, COVID-19, Stroke epidemiology, Stroke therapy
Abstract

Background: Efficiency of care chain response and hospital reactivity were and are challenged for stroke acute care management during the pandemic period of coronavirus disease 2019 (COVID-19) in North-Eastern Italy (Veneto, Friuli-Venezia-Giulia, Trentino-Alto-Adige), counting 7,193,880 inhabitants (ISTAT), with consequences in acute treatment for patients with ischemic stroke., Methods: We conducted a retrospective data collection of patients admitted to stroke units eventually treated with thrombolysis and thrombectomy, ranging from January to May 2020 from the beginning to the end of the main first pandemic period of COVID-19 in Italy. The primary endpoint was the number of patients arriving to these stroke units, and secondary endpoints were the number of thrombolysis and/or thrombectomy. Chi-square analysis was used on all patients; furthermore, patients were divided into two cohorts (pre-lockdown and lockdown periods) and the Kruskal-Wallis test was used to test differences on admission and reperfusive therapies., Results: In total, 2536 patients were included in 22 centers. There was a significant decrease of admissions in April compared to January. Furthermore, we observed a significant decrease of thrombectomy during the lockdown period, while thrombolysis rate was unaffected in the same interval across all centers., Conclusions: Our study confirmed a decrease in admission rate of stroke patients in a large area of northern Italy during the lockdown period, especially during the first dramatic phase. Overall, there was no decrease in thrombolysis rate, confirming an effect of emergency care system for stroke patients. Instead, the significant decrease in thrombectomy rate during lockdown addresses some considerations of local and regional stroke networks during COVID-19 pandemic evolution., (© 2021. The Author(s).)

Published
2021
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14. Statin-associated necrotizing autoimmune myopathy with concurrent myasthenia gravis.

Author

Frasson E, Simonetto M, Bertolasi L, Caneve G, Vilotti C, Ruzza G, Perelli A, Piccinno MG, and Monaco S

Abstract

Statin treatment has been associated with necrotizing autoimmune myopathy and has been linked to myasthenia gravis. We present an unprecedented clinical challenge with both disorders occurring in a patient treated with statins few months earlier., Competing Interests: None of the authors has potential conflicts of interest to be disclosed., (© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

Published
2021
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15. Intravenous thrombolysis for ischemic stroke in the Veneto region: the gap between eligibility and reality.

Author

Forlivesi S, Cappellari M, Baracchini C, Viaro F, Critelli A, Tamborino C, Tonello S, Guidoni SV, Bruno M, Favaretto S, Burlina A, Turinese E, Ferracci F, Zambito Marsala S, Bazzano S, Orlando F, Turazzini M, Ricci S, Cadaldini M, De Biasia F, Bruno S, Gaudenzi A, Morra M, Danese A, L'Erario R, Russo M, Zanette G, Idone D, Basile AM, Atzori M, Masato M, Menegazzo E, Paladin F, Tonon A, Caneve G, Bozzato G, Campagnaro A, Carella S, Nicolao P, Padoan R, Perini F, De Boni A, Adami A, Bonetti B, and Bovi P

Subjects
Administration, Intravenous, Aged, Brain Ischemia, Female, Health Personnel education, Humans, Italy, Male, Middle Aged, Practice Guidelines as Topic, Stroke drug therapy, Thrombolytic Therapy methods
Abstract

Intravenous thrombolysis (IVT) is the treatment of choice for most patients with acute ischemic stroke. According to the recently updated guidelines, IVT should be administered in absence of absolute exclusion criteria. We aimed to assess the proportion of ischemic strokes potentially eligible and actually treated with IVT, and to explore the reasons for not administering IVT. We prospectively collected and analyzed data from 1184 consecutive ischemic stroke patients admitted to the 22 Stroke Units (SUs) of the Veneto region from September 18th to December 10th 2017. Patients were treated with IVT according to the current Italian guidelines. For untreated patients, the reasons for not administering IVT were reported by each center in a predefined model including absolute and/or relative exclusion criteria and other possible reasons. Out of 841 (71%) patients who presented within 4.5 h of stroke onset, 704 (59%) had no other absolute exclusion criteria and were therefore potentially eligible for IVT according to the current guidelines. However, only 323 (27%) patients were eventually treated with IVT. Among 861 (73%) untreated patients, 480 had at least one absolute exclusion criterion, 283 only relative exclusion criteria, 56 only other reasons, and 42 a combination of relative exclusion criteria and other reasons. Our study showed that only 46% (323/704) of the potentially eligible patients were actually treated with IVT in the SUs of the Veneto region. All healthcare professionals involved in the acute stroke pathway should make an effort to bridge this gap between eligibility and reality.

Published
2019
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16. Thunderclap headache caused by minimally invasive medical procedures: description of 2 cases.

Author

Devetag Chalaupka F, Caneve G, Mauri M, and Zaiotti G

Subjects
Adult, Humans, Injections, Epidural adverse effects, Injections, Spinal adverse effects, Intervertebral Disc Displacement therapy, Intracranial Hypotension complications, Intracranial Hypotension etiology, Male, Pneumocephalus complications, Pneumocephalus etiology, Headache Disorders, Primary diagnosis, Headache Disorders, Primary etiology, Minimally Invasive Surgical Procedures adverse effects
Abstract

We report 2 very unusual cases of thunderclap headache complicating minimally invasive medical procedures. In the first case headache developed as the consequence of a pneumocephalus caused by an inadvertent intrathecal puncture during oxygen-ozone therapy for lumbar disk herniation. The second case involved intracranial hypotension, caused by the persistence of the needle, used for epidural anesthesia, and then penetrated in the subarachnoid space.

Published
2007
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17. Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.

Author

De Michele G, Pocchiari M, Petraroli R, Manfredi M, Caneve G, Coppola G, Casali C, Saccà F, Piccardo P, Salvatore E, Berardelli A, Orio M, Barbieri F, Ghetti B, and Filla A

Subjects
Adult, Aged, Ataxia etiology, Cerebellum pathology, Cognition Disorders etiology, Female, Gerstmann-Straussler-Scheinker Disease complications, Gerstmann-Straussler-Scheinker Disease diagnosis, Gerstmann-Straussler-Scheinker Disease pathology, Humans, Italy, Magnetic Resonance Imaging, Male, Pedigree, Phenotype, Prion Proteins, Prions, Amyloid genetics, Gerstmann-Straussler-Scheinker Disease genetics, Mutation, Protein Precursors genetics
Abstract

Background: Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs., Methods: We report a new large Italian family affected by Gerstmann-Sträussler-Scheinker disease., Results: The four generation pedigree includes 11 patients. The mean age at onset +/- SD was 41.4 +/- 16.2 years. Mean disease duration to death in four patients was 5.5 +/- 1.7 years. Two clinical patterns were evident: cognitive impairment with scarce neurological features or ataxia followed by cognitive impairment. Molecular analysis showed P102L mutation in PRNP gene., Conclusion: Three Italian families have been reported to date. The variable phenotype has already been reported, and does not appear related to the codon 129 polymorphism.

Published
2003
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