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4. Carotid artery stenting during endovascular thrombectomy for acute ischemic stroke with tandem occlusion: the Italian Registry of Endovascular Treatment in Acute Stroke

Author

Sallustio, Fabrizio, Pracucci, Giovanni, Cappellari, Manuel, Saia, Valentina, Mascolo, Alfredo Paolo, Marrama, Federico, Gandini, Roberto, Koch, Giacomo, Diomedi, Marina, D’Agostino, Federica, Rocco, Alessandro, Da Ros, Valerio, Wlderk, Andrea, Nezzo, Marco, Argirò, Renato, Morosetti, Daniele, Renieri, Leonardo, Nencini, Patrizia, Vallone, Stefano, Zini, Andrea, Bigliardi, Guido, Pitrone, Antonio, Grillo, Francesco, Bracco, Sandra, Tassi, Rossana, Bergui, Mauro, Naldi, Andrea, Carità, Giuseppe, Casetta, Ilaria, Gasparotti, Roberto, Magoni, Mauro, Simonetti, Luigi, Haznedari, Nicolò, Paolucci, Matteo, Mavilio, Nicola, Malfatto, Laura, Menozzi, Roberto, Genovese, Antonio, Cosottini, Mirco, Orlandi, Giovanni, Comai, Alessio, Franchini, Enrica, Pedicelli, Alessandro, Frisullo, Giovanni, Puglielli, Edoardo, Casalena, Alfonsina, Cester, Giacomo, Baracchini, Claudio, Castellano, Davide, Di Liberto, Alessandra, Ricciardi, Giuseppe Kenneth, Chiumarulo, Luigi, Petruzzellis, Marco, Lafe, Elvis, Persico, Alessandra, Cavasin, Nicola, Critelli, Adriana, Semeraro, Vittorio, Tinelli, Angelica, Giorgianni, Andrea, Carimati, Federico, Auteri, William, Rizzuto, Stefano, Biraschi, Francesco, Nicolini, Ettore, Ferrari, Antonio, Melis, Maurizio, Calia, Stefano, Tassinari, Tiziana, Nuzzi, Nunzio Paolo, Corato, Manuel, Sacco, Simona, Squassina, Guido, Invernizzi, Paolo, Gallesio, Ivan, Ruiz, Luigi, Dui, Giovanni, Carboni, Nicola, Amistà, Pietro, Russo, Monia, Maiore, Mario, Zanda, Bastianina, Craparo, Giuseppe, Mannino, Marina, Inzitari, Domenico, Toni, Danilo, Mangiafico, Salvatore, Gasparotti, R., Inzitari, D., Mangiafico, S., Toni, D., Vallone, S., Zini, A., Bergui, M., Causin, F., Ciccone, A., Nencini, P., Saletti, A., Sallustio, F., Tassi, R., Thyrion, F. Zappoli, Pracucci, G., Saia, V., Gandini, R., Da Ros, V., Greco, L., Morosetti, D., Diomedi, M., Nappini, S., Limbucci, N., Renieri, L., Fainardi, E., Verganti, L., Sacchetti, F., Zelent, G., Bigliardi, G., Dell’Acqua, M. L., Picchetto, L., Vandelli, L., Pentore, R., Maffei, S., Nichelli, P., Longo, M., Pitrone, A., Vinci, S. L., Velo, M., Caragliano, A., Tessitore, A., Bonomo, O., Musolino, R., La Spina, P., Casella, C., Fazio, M. C., Grillo, F., Cotroneo, M., Dell’Aera, C., Francalanza, I., Bracco, S., Cioni, S., Gennari, P., Vallone, I. M., Cerase, A., Martini, G., Stura, G., Daniele, D., Cerrato, P., Naldi, A., Onofrio, M., De Vito, A., Azzini, C., Casetta, I., Mardighian, D., Frigerio, M., Magoni, M., Costa, A., Simonetti, L., Cirillo, L., Taglialatela, F., Isceri, S., Princiotta, C., Dall’Olio, M., Cellerini, M., Gentile, M., Piccolo, L., Migliaccio, L., Brancaleoni, L., Naldi, F., Romoli, M., Zaniboni, A., Ruggiero, M., Sanna, A., Haznedari, N., Commodaro, C., Longoni, M., Biguzzi, S., Cordici, F., Malatesta, E., Castellan, L., Mavilio, N., Salsano, G., Malfatto, L., Finocchi, C., Menozzi, R., Piazza, P., Epifani, E., Andreone, A., Scoditti, U., Castellini, P., Latte, L., Grisendi, I., Cosottini, M., Puglioli, M., Lazzarotti, G., Lauretti, D., Mancuso, M., Giannini, N., Maccarone, M., Orlandi, G., Comai, A., Bonatti, G., Nano, G., Ferro, F., Bonatti, M., Dall’Ora, E., Dossi, R. Currò, Turri, E., Turri, M., Colosimo, C., Pedicelli, A., D’Argento, F., Alexandre, A., Frisullo, G., Di Egidio, V., Puglielli, E. G., Ruggero, L., Assetta, M., Casalena, A., Cester, G., Baracchini, C., Viaro, F., Pieroni, A., Vaudano, G., Comelli, C., Di Maggio, L., Castellano, D., Cavallo, R., Duc, E., Chianale, G., Ciceri, E. F. M., Plebani, M., Augelli, R., Zampieri, P., Grazioli, A., Cappellari, M., Forlivesi, S., Tomelleri, G., Micheletti, N., Chiumarulo, L., Zimatore, D. S., Federico, F., Petruzzelli, M., Zappoli, F., Lafe, E., Sanfilippo, G., Sgreccia, A., Martignoni, A., Cavallini, A., Denaro, F., Persico, A., Cagliari, E., Cavasin, N., Quatrale, R., Critelli, A., Burdi, N., Semeraro, V., Lucarelli, N., Ganimede, M. P., Internò, S., Tinelli, A., Prontera, M. P., Pesare, A., Cotroneo, E., Pampana, E., Ricciardi, F., Gigli, R., Pezzella, F. R., Corsi, F., Giorgianni, A., Baruzzi, F., Pellegrino, C., Terrana, A., Versino, M., Delodovici, M. L., Carimati, F., Cariddi, L. Princiotta, Auteri, W., Di Benedetto, O., Silvagni, U., Perrotta, P., Crispino, E., Petrone, A., Stancati, F., Rizzuto, S., Pugliese, P., Pisani, E., Siniscalchi, A., Gaudiano, C., Pirritano, D., Del Giudice, F., Piano, M., Agostoni, E., Motto, C., Gatti, A., Guccione, A., Tortorella, R., Stecco, A., Guzzardi, G., Del Sette, B., Coppo, L., Baldan, J., Romano, D., Siani, A., Locatelli, G., Saponiero, R., Napolitano, R., De Gregorio, M., Volpe, G., Tenuta, M., Guidetti, G., Biraschi, F., Wulbek, A., Falcou, A., Anzini, A., Mancini, A., De Michele, M., Fausti, S., Di Mascio, M. T., Durastanti, L., Sbardella, E., Mellina, V., Nicolini, E., Comelli, S., Ganau, C., Corraine, S., Fusaro, F., Ferrari, A., Schirru, F., Ledda, V., Secci, S., Melis, M., Piras, V., Moller, J., Padolecchia, R., Allegretti, L., Caldiera, V., Calia, S., Ganci, G., Tassinari, T., Sugo, A., De Nicola, M., Giannoni, M., Bruni, S., Gambelli, E., Provinciali, L., Nuzzi, N. P., Marcheselli, S., Corato, M., Scomazzoni, F., Simionato, F., Roveri, L., Filauri, P., Sacco, S., Orlandi, B., De Santis, F., Tiseo, C., Notturno, F., Ornello, R., Pavia, M., Squassina, G., Cobelli, M., Morassi, M., Magni, E., Invernizzi, P., Pepe, F., Bigni, B., Costa, P., Crabbio, M., Griffini, S., Palmerini, F., Piras, M. P., Gallesio, I., Barbero, S., Ferrandi, D., Dui, G., Fancello, M. C., Zedda, S., Ticca, A., Saddi, M. V., Deiana, G., Rossi, R., Carboni, N., Mela, A., Amistà, P., Russo, M., Iannucci, G., Pinna, V., Di Clemente, L., Santi, M., De Boni, A., De Luca, C., Natrella, M., Fanelli, G., Cristoferi, M., Bottacchi, E., Corso, G., Tosi, P., Sessa, M., Giossi, A., Baietti, Null, Romano, G., Meineri, P., Armentano, A., Versace, P., Arcudi, L., Galvano, G., Petralia, B., Feraco, P., Luppi, G., Giometto, B., Bignamini, V., Piffer, S., Meloni, G. B., Fabio, C., Maiore, M., Pintus, F., Pischedda, A., Manca, A., Mongili, C., Zanda, B., Baule, A., Florio, F., Ciccarese, G., Leone, M., Di Viesti, P., Pappalardo, M. P., Craparo, G., Gallo, C., Monaco, S., Mannino, M., Muto, M., Guarnieri, Gl., Andreone, V., Passalacqua, G., Allegritti, M., Caproni, S., Filizzolo, M., Salmaggi, A., Giordano, A., Marini, C., Frattale, I., Lucente, G., Nozzoli, C., and Lupo, F. A.

Subjects
Stent, Acute stroke, Settore MED/37 - Neuroradiologia, Acute stroke Internal carotid artery diseases Stent Thrombectomy, Neurology (clinical), General Medicine, Settore MED/26, Internal carotid artery diseases, Thrombectomy
Abstract

The management of tandem extracranial internal carotid artery and intracranial large vessel occlusion during endovascular thrombectomy (EVT) for acute ischemic stroke (AIS) has been under-investigated. We sought to investigate outcomes of AIS patients with tandem occlusion (TO) treated with carotid artery stenting (CAS) compared to those not treated with CAS (no-CAS) during EVT.We performed a cohort study using data from AIS patients enrolled in the Italian Registry of Endovascular Treatment in Acute Stroke. Outcomes were 3 months' mortality, functional outcome, complete and successful recanalization, any intracranial hemorrhage, parenchymal hematoma and symptomatic intracerebral hemorrhage.Among 466 AIS patients with TO, CAS patients were 122 and no-CAS patients were 226 (118 excluded). After adjustment for unbalanced variables, CAS was associated with a lower rate of 3 months' mortality (OR 0.407, 95% CI 0.171-0.969, p = 0.042). After adjustment for pre-defined variables, CAS was associated with a lower rate of 3 months' mortality (aOR 0.430, 95% CI 0.187-0.989, p = 0.047) and a higher rate of complete recanalization (aOR 1.986, 95% CI 1.121-3.518, p = 0.019), successful recanalization (aOR 2.433, 95% CI 1.263-4.686, p = 0.008) and parenchymal hematoma (aOR 2.876, 95% CI 1.173-7.050, p = 0.021). CAS was associated with lower 3 months mortality (OR 0.373, 95% CI 0.141-0.982, p = 0.046) and higher rates of successful recanalization (OR 2.082, 95% CI 1.099-3.942, p = 0.024) after adjustment for variables associated with 3 months' mortality and successful recanalization, respectively.Among AIS patients with TO, CAS during EVT was associated with a higher rate of successful reperfusion and a lower rate of 3 months' mortality.

Published
2022

7. Is overwork weakness relevant in Charcot–Marie–Tooth disease?

Author

Piscosquito, G, Reilly, M M, Schenone, A, Fabrizi, G M, Cavallaro, T, Santoro, L, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Calabrese, D, Hughes, R A C, Radice, D, Solari, A, Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti-Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Manganelli, F, Pisciotta, C, Nolano, M, Mazzeo, A, Di Leo, R, Majorana, G, Russo, M, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, and Lunn, M

Published
2014
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9. PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot–Marie–Tooth 1A biomarker

Author

Nobbio, Lucilla, Visigalli, Davide, Radice, Davide, Fiorina, Elisabetta, Solari, Alessandra, Lauria, Giuseppe, Reilly, Mary M., Santoro, Lucio, Schenone, Angelo, Pareyson, Davide, Pareyson, D., Marchesi, C., Salsano, E., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Schenone, A., Narciso, E., Grandis, M., Monti-Bragadin, M., Nobbio, L., Fabrizi, G. M., Cavallaro, T., Casano, A., Bertolasi, L., Cabrini, I., Corrà, K., Rizzuto, N., Santoro, L., Manganelli, F., Pisciotta, C., Nolano, M., Vita, G., Mazzeo, A., Aguennouz, M., Di Leo, R., Majorana, G., Lanzano, N., Valenti, F., Quattrone, A., Valentino, P., Nisticò, R., Pirritano, D., Lucisano, A., Canino, M., Padua, L., Pazzaglia, C., Granata, G., Foschini, M., Gemignani, F., Brindani, F., Vitetta, F., Allegri, I., Visioli, F., Bogani, P., and Visioli, F.

Published
2014
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18. Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease

Author

Piscosquito, G., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Manganelli, F., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laurà, M., Calabrese, D., Hughes, R. A. C., Radice, D., Solari, A., Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Ferrari, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti-Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Pisciotta, C, Nolano, M, Mazzeo, A, R Di Leo, Majorana, G, Russo, M, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Piscosquito, G, Reilly, M. M, Schenone, A, Fabrizi, G. M, Cavallaro, T, Santoro, Lucio, Manganelli, Fiore, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Calabrese, D, Hughes, R. A. C, Radice, D, Solari, A, Pareyson, D., and Nolano, Maria

Subjects
Adult, Male, Change over time, medicine.medical_specialty, responsiveness, Charcot−Marie−Tooth disease, Disease, Placebo, hereditary motor sensory neuropathy, Tooth disease, Charcot-Marie-Tooth Disease, Outcome Assessment, Health Care, Humans, Medicine, Charcot-Marie-Tooth disease, Clinical trials, Evaluative outcome measures, Hereditary motor sensory neuropathy, Responsiveness, Clinical Trials as Topic, Exercise Test, Female, Middle Aged, Outcome Assessment (Health Care), Neurology, Neurology (clinical), clinical trials, evaluative outcome measures, evaluative outcome measure, business.industry, Outcome measures, clinical trial, Charcot−Marie−Tooth disease,clinical trials,evaluative outcome measures,hereditary motor sensory neuropathy,responsiveness, Ascorbic acid, Clinical trial, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Physical therapy, Upper limb, business, Settore MED/34 - MEDICINA FISICA E RIABILITATIVA
Abstract

Background and purpose Charcot−Marie−Tooth disease (CMT) is a very slowly progressive neuropathy which makes it difficult to detect disease progression over time and to assess intervention efficacy. Experience from completed clinical trials with ascorbic acid and natural history studies confirm difficulties in detecting such changes. Consequently, sensitive-to-change outcome measures (OMs) are urgently needed. Methods The relative responsiveness of clinical scales of the Italian−UK ascorbic acid trial (placebo arm) were assessed by using the standardized response mean (SRM), which is the ratio of the paired scores mean change over time to the standard deviation of the score change (0 is worst responsiveness). Results Little worsening of OM scores was found over 2 years. In detail, the primary OM of the trial, the CMT Neuropathy Score version 1 (CMTNSv1), showed low responsiveness (SRM 0.13). Some CMTNS items showed slightly greater responsiveness (CMT Examination Score 0.17; CMTNS Signs 0.19). Myometric assessments of handgrip and foot dorsiflexion strength were the most responsive (SRM −0.31 and −0.38, respectively). Amongst the other measures, the nine-hole peg test, which assesses upper limb functioning, showed the best sensitivity to change (SRM 0.28). Conclusions Overall these OMs showed low or negligible responsiveness, confirming the need to improve current OMs and to develop novel ones for prognostic and interventional studies. However, handgrip and foot dorsiflexion myometry are worth retaining for future trials as they were the most responsive and are likely to be clinically relevant for patients.

Published
2015

19. Gene conversion events in adult-onset Spinal Muscular Atrophy

Author

Mazzei, R., Conforti, F.L., Gambardella, A., Magariello, A., Patitucci, A., Gabriele, A.L., Pirritano, D., Labate, A., Muglia, M., Valentino, P., Bono, F., Zappia, M., and Quattrone, A.

Subjects
Human genetics -- Research, Genetic disorders -- Research, Spinal muscular atrophy -- Genetic aspects, Motor neurons -- Genetic aspects, Biological sciences
Published
2001

20. Osservational Study on Early Diagnosis of Prostate Carcinoma in Sicily and Calabria

Author

P. Cozzupoli, Spampinato A, S. Taschetti, M. Pavone Macaluso, Carlo Pavone, E Membri Della Società Siculo-Calabra Di Urologia, Paola Q, M. Motta, Pietro Pepe, G. Raciti, G. Capizzi, Vincenzo Serretta, F. De Leo, M Massarelli, Carlo Magno, G. Vaccarella, Nicolosi D, Rosalinda Allegro, G. Contino, F. Orestano, F. Ventrici, G. Salvia, M. Rinella, Pirritano D, Armenio A, Cammarata C, G.B. Ingargiola, D. Melloni, V. Cosentino, G. De Grande, Alberto Saita, M. Caramia, F. Falvo, I. Rizzo, C. Aragona, L. Orestano, G. Lapira, F. Vacirca, E. Gange, S. Bartolotta, Francesco Aragona, and G. Galfano

Subjects
Oncology, medicine.medical_specialty, business.industry, Internal medicine, medicine, General Medicine, Prostate carcinoma, business
Abstract

The diagnosis of prostate carcinoma has been monitored in Sicily and Calabria for one year. Material e Methods Twenty-seven urological centres of Sicily and Calabria joined the study. Detailed informations about age, familiarity, PSA, Gleason score and TNM stage at diagnosis were centralized between november 2001 and november 2002. Results 721 patients have been recruited. The median age was 73 years. More than 80% of the patients were older than 65 years. Median PSA was 14 ng/ml. The clinical stage at diagnosis was T1c in 33% of patients and 67% had an organ confined prostate cancer (T1-T2). Familiarity was detected in 8% of cases. Age and PSA at diagnosis in these patients were similar to those of the remaining population. However, only 18% of them had a T1 tumor, emphasizing the delay in diagnosis in these patients. Although only 10% of the patients shows at diagnosis a metastatic tumor, 29% only are fit for radical prostatectomy in according to age, PSA and stage.

Published
2004

21. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

Author

Pareyson, D, Reilly, Mm, Schenone, A, Fabrizi, Gm, Cavallaro, T, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Radice, D, Calabrese, D, Hughes, Ra, Solari, A, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Nolano, M, Mazzeo, A, Aguennouz, M, Di Leo, R, Majorana, G, Lanzano, N, Valenti, F, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Mancardi, Gl, Cavaletti, G, Galimberti, S, Ferrari, G, Sereda, M., NOLANO, MARIA, SANTORO, LUCIO, MANGANELLI, FIORE, PISCIOTTA, CHIARA, Pareyson, D, Reilly, Mm, Schenone, A, Fabrizi, Gm, Cavallaro, T, Santoro, Lucio, Vita, G, Quattrone, A, Padua, L, Gemignani, F, Visioli, F, Laurà, M, Radice, D, Calabrese, D, Hughes, Ra, Solari, A, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti Bragadin, M, Nobbio, L, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Manganelli, Fiore, Pisciotta, Chiara, Nolano, M, Mazzeo, A, Aguennouz, M, Di Leo, R, Majorana, G, Lanzano, N, Valenti, F, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Pazzaglia, C, Granata, G, Foschini, M, Brindani, F, Vitetta, F, Allegri, I, Bogani, P, Blake, J, Koltzenburg, M, Hutton, E, Lunn, M, Mancardi, Gl, Cavaletti, G, Galimberti, S, Ferrari, G, Sereda, M., Nolano, Maria, Reilly, M, Fabrizi, G, Hughes, R, for the CMT, T, CMT TRAUK, G, and CMT TRAUK, g. r. o. u. p. s.

Subjects
Male, patients, Antioxidants, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 1A, 0303 health sciences, CMT1A, ascorbic acid, neuropathy, trial, Middle Aged, Charcot-Marie-Tooth Disease Type 1A, drug therapy, 3. Good health, Settore MED/26 - NEUROLOGIA, Treatment Outcome, Tolerability, Female, Antioxidant, Human, Adult, medicine.medical_specialty, SF-36, Adolescent, Clinical Neurology, double-blind controlled trial, Placebo, Double blind, 03 medical and health sciences, Acido ascorbico, Double-Blind Method, Internal medicine, medicine, Fast track — Articles, Humans, Adverse effect, 030304 developmental biology, Aged, business.industry, Ascorbic acid, Adolescent, Adult, Aged, Antioxidants, therapeutic use, Ascorbic Acid, therapeutic use, Charcot-Marie-Tooth Disease, drug therapy, Double-Blind Method, Female, Humans, Male, Middle Aged, Treatment Outcome, Surgery, therapeutic use, Charcot Marie Tooth, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Summary Background Ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing peripheral myelin protein 22 ( PMP22 ), a model of Charcot–Marie–Tooth disease type 1A (CMT1A) associated with the PMP22 duplication. However, in three 1-year trials, ascorbic acid had no benefit in human beings. We did a multicentre 2-year trial to test the efficacy and tolerability of ascorbic acid in patients with CMT1A. Methods Adult patients (aged 18–70 years) with symptomatic CMT1A were enrolled from nine centres in Italy and the UK, and were randomly assigned (1:1 ratio) to receive 1·5 g/day oral ascorbic acid or matching placebo for 24 months. The randomisation sequence was computer generated by block randomisation, stratified by centre and disease severity, and patients were allocated to treatment by telephone. The primary outcome was change in the CMT neuropathy score (CMTNS) at 24 months. Secondary outcomes were timed 10 m walk test, nine-hole peg test, overall neuropathy limitations scale, distal maximal voluntary isometric contraction, visual analogue scales for pain and fatigue, 36-item short-form questionnaire, and electrophysiological measurements. Patients, treating physicians, and physicians assessing outcome measures were masked to treatment allocation. Analysis of the primary outcome was done on all randomised patients who received at least one dose of study drug. This study is registered, numbers ISRCTN61074476 (CMT-TRAUK) and EudraCT 2006-000032-27 (CMT-TRIAAL). Findings We enrolled and randomly assigned 277 patients, of whom six (four assigned to receive ascorbic acid) withdrew consent before receiving treatment; 138 receiving ascorbic acid and 133 receiving placebo were eligible for analysis. Treatment was well tolerated: 241 of 271 patients (89% in each group) completed the study; 20 patients (nine receiving ascorbic acid) dropped out because of adverse events. Mean CMTNS at baseline with missing data imputed was 14·7 (SD 4·8) in the ascorbic acid group and 13·9 (4·2) in the placebo group. Mean worsening of CMTNS was 0·2 (SD 2·8, 95% CI −0·3 to 0·7) in the ascorbic acid group and 0·2 (2·7, −0·2 to 0·7) in the placebo group (mean difference 0·0, 95% CI −0·6 to 0·7; p=0·93). We recorded no differences between the groups for the secondary outcomes at 24 months. 21 serious adverse events occurred in 20 patients, eight in the ascorbic acid group and 13 in the placebo group. Interpretation Ascorbic acid supplementation had no significant effect on neuropathy compared with placebo after 2 years, suggesting that no evidence is available to support treatment with ascorbic acid in adults with CMT1A. Funding Telethon-UILDM and AIFA (Italian Medicines Agency) for CMT-TRI AA L, and Muscular Dystrophy Campaign for CMT-TRAUK.

Published
2011

22. Is overwork weakness relevant in Charcot-Marie-Tooth disease?

Author

Piscosquito, G., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laura, M., Calabrese, D., Hughes, R. A. C., Radice, D., Solari, A., Pareyson, D., Marchesi, C., Salsano, E., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Narciso, E., Grandis, M., Monti Bragadin, M., Nobbio, L., Casano, A., Bertolasi, L., Cabrini, I., Corra, K., Rizzuto, N., Manganelli, F., Pisciotta, C., Nolano, M., Mazzeo, A., Di Leo, R., Majorana, G., Russo, M., Valentino, P., Nistico, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Bogani, P., Blake, J., Koltzenburg, M., Hutton, E., Lunn, M., G., Piscosquito, M. M., Reilly, A., Schenone, G. M., Fabrizi, T., Cavallaro, Santoro, Lucio, G., Vita, A., Quattrone, L., Padua, F., Gemignani, F., Visioli, M., Laura, D., Calabrese, R. A. C., Hughe, D., Radice, A., Solari, D., Pareyson, C., Marchesi, E., Salsano, L., Nanetti, C., Marelli, V., Scaioli, C., Ciano, M., Rimoldi, G., Lauria, E., Rizzetto, F., Camozzi, E., Narciso, M., Grandi, M., Monti Bragadin, L., Nobbio, A., Casano, L., Bertolasi, I., Cabrini, K., Corra, N., Rizzuto, Manganelli, Fiore, Pisciotta, Chiara, M., Nolano, A., Mazzeo, R., Di Leo, G., Majorana, M., Russo, P., Valentino, R., Nistico, D., Pirritano, A., Lucisano, M., Canino, C., Pazzaglia, G., Granata, M., Foschini, F., Brindani, F., Vitetta, I., Allegri, P., Bogani, J., Blake, M., Koltzenburg, E., Hutton, and M., Lunn

Subjects
Adult, Male, REHABILITATION, congenital, hereditary, and neonatal diseases and abnormalities, Weakness, medicine.medical_specialty, Neuromuscular disease, Adolescent, Cumulative Trauma Disorders, medicine.medical_treatment, physical activity, Neurogenetics, CLINICAL NEUROLOGY, overwork weakness, Functional Laterality, Young Adult, Charcot-Marie-Tooth Disease, Hand strength, medicine, Humans, Muscle Strength, Young adult, Muscle, Skeletal, Aged, Charcot-Marie-Tooth disease, lower limb, muscles, rehabilitation, Rehabilitation, Muscle Weakness, NEUROGENETICS, Hand Strength, business.industry, NEUROPATHY, Muscle weakness, Middle Aged, medicine.disease, Gait, Psychiatry and Mental health, Settore MED/26 - NEUROLOGIA, Physical therapy, Surgery, Female, HMSN (CHARCOT-MARIE-TOOTH), Neurology (clinical), medicine.symptom, business
Abstract

BACKGROUND: In overwork weakness (OW), muscles are increasingly weakened by exercise, work or daily activities. Although it is a well-established phenomenon in several neuromuscular disorders, it is debated whether it occurs in Charcot-Marie-Tooth disease (CMT). Dominant limb muscles undergo a heavier overload than non-dominant and therefore if OW occurs we would expect them to become weaker. Four previous studies, comparing dominant and non-dominant hand strength in CMT series employing manual testing or myometry, gave contradictory results. Moreover, none of them examined the behaviour of lower limb muscles. METHODS: We tested the OW hypothesis in 271 CMT1A adult patients by comparing bilateral intrinsic hand and leg muscle strength with manual testing as well as manual dexterity. RESULTS: We found no significant difference between sides for the strength of first dorsal interosseous, abductor pollicis brevis, anterior tibialis and triceps surae. Dominant side muscles did not become weaker than non-dominant with increasing age and disease severity (assessed with the CMT Neuropathy Score); in fact, the dominant triceps surae was slightly stronger than the non-dominant with increasing age and disease severity. DISCUSSION: Our data does not support the OW hypothesis and the consequent harmful effect of exercise in patients with CMT1A. Physical activity should be encouraged, and rehabilitation remains the most effective treatment for CMT patients. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Published
2014
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23. PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker

Author

Nobbio, L, Visigalli, D, Radice, D, Fiorina, E, Solari, A, Lauria, G, Reilly, Mm, Santoro, L, Schenone, A, Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Rizzetto, E, Camozzi, F, Narciso, E, Grandis, M, Monti, M, Fabrizi, G, Cavallaro, T, Casano, A, Bertolasi, L, Cabrini, I, Corra, K, Rizzuto, N, Manganelli, F, Pisciotta, C, Nolano, M, Vita, Giuseppe, Mazzeo, Anna, Aguennouz, M'Hammed, DI LEO, Rita, Majorana, G, Lanzano, N, Valenti, F, Quattrone, A, Valentino, P, Nistico, R, Pirritano, D, Lucisano, A, Canino, M, Padua, L, Pazzaglia, C, Granata, G, Foschini, M, Gemignani, F, Brindani, F, Vitetta, F, Allegri, I, Visioli, F, Bogani, P, and Visioli, F.

Published
2014

24. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Author

Mannil, M., Solari, A., Leha, A., Pelayo-Negro, A. L., Berciano, J., Schlotter-Weigel, B., Walter, M. C., Rautenstrauss, B., Schnizer, T. J., Schenone, A., Seeman, P., Kadian, C., Schreiber, O., Angarita, N. G., Fabrizi, G. M., Gemignani, F., Padua, L., Santoro, L., Quattrone, A., Vita, G., Calabrese, D., Marchesi, C., Salsano, E., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Narciso, E., Grandis, M., Monti-Bragadin, M., Nobbio, L., Cavallaro, T., Casano, A., Bertolasi, L., Cabrini, I., Corra, K., Manganelli, F., Pisciotta, C., Nolano, M., Mazzeo, A., Aguennouz, M., Di Leo, R., Majorana, G., Lanzano, N., Valenti, F., Valentino, P., Nistico, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Visioli, F., Bogani, P., Blake, J., Koltzenburg, M., Hutton, E., Lunn, M., Young, P., Laura, M., Haberlova, J., Mazanec, R., Paulus, W., Beissbarth, T., Shy, M. E., Reilly, M. M., Pareyson, D., Sereda, M. W., Manoj, Mannil, Alessandra, Solari, Andreas, Leha, Ana L., Pelayo Negro, Josè, Berciano, Beate Schlotter, Weigel, Maggie C., Walter, Bernd, Rautenstrau, Tuuli J., Schnizer, Angelo, Schenone, Pavel, Seeman, Chandini, Kadian, Olivia, Schreiber, Natalia G., Angarita, Gian Maria, Fabrizi, Franco, Gemignani, Luca, Padua, Santoro, Lucio, Aldo, Quattrone, Giuseppe, Vita, Daniela, Calabrese, Cmt, Trial, Manganelli, Fiore, CMT TRIAL Chiara, Pisciotta, CMT TRAUK, Group, Peter, Young, Matilde, Laurà, Jana, Haberlova, Radim, Mazanec, Walter, Paulu, Tim, Beissbarth, Michael E., Shy, Mary M., Reilly, Davide, Pareyson, and Michael W., Sereda

Subjects
Male, Outcome Assessment, CMTNS, Disease, Ascorbic Acid, Walking, Severity of Illness Index, Antioxidants, Cohort Studies, Charcot-Marie-Tooth Disease, Outcome Assessment, Health Care, Charcot-Marie-Tooth, CMT1A, HMSN, secondary clinical outcome measures, score generation, Cluster Analysis, Age Factor, Genetics (clinical), Score generation, Secondary clinical outcome measures, Adolescent, Adult, Age Factors, Disease Progression, Double-Blind Method, Female, Humans, Middle Aged, Muscle Strength, Pain Measurement, Psychomotor Performance, Young Adult, Snap, Outcome measures, Dorsal flexion, Compound muscle action potential, Settore MED/26 - NEUROLOGIA, Secondary clinical outcome measure, Neurology, Antioxidant, Human, medicine.medical_specialty, Outcome Assessment (Health Care), Physical medicine and rehabilitation, Disease severity, medicine, Sensory symptoms, Cluster Analysi, business.industry, Health Care, Pediatrics, Perinatology and Child Health, Sensory nerve action potential, Neurology (clinical), Cohort Studie, business
Abstract

This study evaluates primary and secondary clinical outcome measures in Charcot-Marie-Tooth disease type 1A (CMT1A) with regard to their contribution towards discrimination of disease severity. The nine components of the composite Charcot-Marie-Tooth disease Neuropathy Score and six additional secondary clinical outcome measures were assessed in 479 adult patients with genetically proven CMT1A and 126 healthy controls. Using hierarchical clustering, we identified four significant clusters of patients according to clinical severity. We then tested the impact of each of the CMTNS components and of the secondary clinical parameters with regard to their power to differentiate these four clusters. The CMTNS components ulnar sensory nerve action potential (SNAP), pin sensibility, vibration and strength of arms did not increase the discriminant value of the remaining five CMTNS components (Ulnar compound motor action potential [CMAP], leg motor symptoms, arm motor symptoms, leg strength and sensory symptoms). However, three of the six additional clinical outcome measures the 10 m-timed walking test (T10MW), 9 hole-peg test (9HPT), and foot dorsal flexion dynamometry further improved discrimination between severely and mildly affected patients. From these findings, we identified three different composite measures as score hypotheses and compared their discriminant power with that of the CMTNS. A composite of eight components CMAP, Motor symptoms legs, Motor symptoms arms, Strength of Legs, Sensory symptoms), displayed the strongest power to discriminate between the clusters. As a conclusion, five items from the CMTNS and three secondary clinical outcome measures improve the clinical assessment of patients with CMT1A significantly and are beneficial for upcoming clinical and therapeutic trials. (C) 2014 Elsevier B.V. All rights reserved.

Published
2014

25. Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

Author

Solari, A, Laurà, M, Salsano, E, Radice, D, Pareyson, D, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, A, Grandis, M, Narciso, E, Nobbio, L, Benedetti, L, Rizzuto, N, Fabrizi, Gm, Cavallaro, T, Bertolasi, L, Casano, A, Nolano, M, Vita, G, Mazzeo, A, Di Leo, R, Girlanda, P, Majorana, G, Aguennouz, M, Ciranni, A, Lanzano, N, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Clodomiro, A, Canino, M, Padua, L, Pazzaglia, C, Mignogna, T, Gemignani, F, Brindani, F, Vitetta, F, Visioli, F, Bogani, P, Hughes, Ra, Mancardi, Gl, Cavaletti, G, Galimberti, S, Calabrese, D, Ferrari, G, Santoro, L, Sereda, Mw, Lauria, G., SANTORO, LUCIO, MANGANELLI, FIORE, PISCIOTTA, CHIARA, Solari, A, Laurà, M, Salsano, E, Radice, D, Pareyson, D, Marelli, C, Scaioli, V, Ciano, C, Rimoldi, M, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, A, Grandis, M, Narciso, E, Nobbio, L, Benedetti, L, Rizzuto, N, Fabrizi, Gm, Cavallaro, T, Bertolasi, L, Casano, A, Santoro, Lucio, Manganelli, Fiore, Pisciotta, Chiara, Nolano, M, Vita, G, Mazzeo, A, Di Leo, R, Girlanda, P, Majorana, G, Aguennouz, M, Ciranni, A, Lanzano, N, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Clodomiro, A, Canino, M, Padua, L, Pazzaglia, C, Mignogna, T, Gemignani, F, Brindani, F, Vitetta, F, Visioli, F, Bogani, P, Hughes, Ra, Mancardi, Gl, Cavaletti, G, Galimberti, S, Calabrese, D, Ferrari, G, Santoro, L, Sereda, Mw, and Lauria, G.

Published
2008

26. RISULTATI DI UNO STUDIO RANDOMIZZATO SULLA TOSSICITÀ E SUL RUOLO DEL MANTENIMENTO NELLA CHEMIOPROFILASSI ENDOVESCICALE PRECOCE DOPO TUR DI CARCINOMA VESCICALE SUPERFICIALE

Author

ALTIERI V, MORGIA G, MOTTA M, ANNESE P, CARRIERI G, DI LALLO A, SBLENDORIO D, SALZANO L, BROTZA D, RUGGIERO G, SAITA A, CACCIATORE M, SIMONE NS, IADEVAIA M, VACIRCA F, SELVAGGI FP, PIRRITANO D, BIZZINI A, PEPE P, PAVONE MACALUSO M, ALLEGRO R. E. I. MEMBRI DEL GSTU, SERRETTA, Vincenzo, MELLONI, Darvinio, SCUTO, Fabio, ZITO, Anna, GALLO, Alessia, ALTIERI V, SERRETTA V, MORGIA G, MELLONI D, SCUTO F, MOTTA M, ZITO A, ANNESE P, CARRIERI G, DI LALLO A, GALLO A, SBLENDORIO D, SALZANO L, BROTZA D, RUGGIERO G, SAITA A, CACCIATORE M, SIMONE NS, IADEVAIA M, VACIRCA F, SELVAGGI FP, PIRRITANO D, BIZZINI A, PEPE P, PAVONE-MACALUSO M, and ALLEGRO R E I MEMBRI DEL GSTU

Published
2005

27. Fumo di sigaretta e risorsa idrica in pazienti affetti da carcinoma vescicale superficiale. XV Congresso Nazionale SIUro, Giardini Naxos 3-6 novembre 2005. 1

Author

MORGIA G, ALTIERI V, MOTTA M, MAGNO C, CHINCOLI S, CACCIATORE M, SIMONE NS, CONTINO G, PIRRITANO D, MASALA A, DELIA A, BULGARELLA A, MAZZA R, RICCI BARBINI V, RAGUSO G, ESPOSITO C, CICALESE V, PAVONE MACALUSO M. E. I. MEMBRI DEL GSTU, SERRETTA, Vincenzo, MELLONI, Darvinio, GALUFFO, Antonino, TESTA, Giuseppe, GENTILE, Monica, ALLEGRO, Rosalinda, MORGIA G, SERRETTA V, ALTIERI V, MELLONI D, GALUFFO A, MOTTA M, TESTA G, MAGNO C, CHINCOLI S, CACCIATORE M, SIMONE NS, CONTINO G, PIRRITANO D, GENTILE M, MASALA A, DELIA A, BULGARELLA A, MAZZA R, RICCI BARBINI V, RAGUSO G, ESPOSITO C, CICALESE V, ALLEGRO R, and PAVONE-MACALUSO M E I MEMBRI DEL GSTU

Published
2005

28. Diagnosi precoce del carcinoma prostatico in sicilia e calabria. Dati preliminare di uno studio osservazionale del GSTU e della SSCU

Author

ALLEGRO, Rosalinda, SERRETTA, Vincenzo, MELLONI, Darvinio, ARAGONA F, MOTTA M, ORESTANO L, CAMMARATA C, MAGNO C, ARAGONA C, PIRRITANO D, PAOLA Q, COSENTINO V, CAPIZZI G, SAITA A, SPAMPINATO A, NICOLOSI D, RACITI G, SALVIA G, RINELLA M, PAVONEMACALUSO M. E. I. MEMBRI DEL GRUPPO STUDIO TUMORI UROLOGICI GSTU E. DELLA SOCIET SICULO CALABRA DI UROLOGIA SSCU, ALLEGRO R, SERRETTA V, ARAGONA F, MOTTA M, ORESTANO L, CAMMARATA C, MELLONI D, MAGNO C, ARAGONA C, PIRRITANO D, PAOLA Q, COSENTINO V, CAPIZZI G, SAITA A, SPAMPINATO A, NICOLOSI D, RACITI G, SALVIA G, RINELLA M, and PAVONEMACALUSO M E I MEMBRI DEL GRUPPO STUDIO TUMORI UROLOGICI GSTU E DELLA SOCIET SICULO-CALABRA DI UROLOGIA SSCU

Published
2004

29. Vitamin C and Charcot-Marie-Tooth 1A: Pharmacokinetic considerations

Author

Visioli, F, Reilly, Mm, Rimoldi, M, Solari, A, Pareyson, D, Marchesi, C, Salsano, E, Nanetti, L, Marelli, C, Scaioli, V, Ciano, C, Lauria, G, Rizzetto, E, Camozzi, F, Schenone, Angelo, Narciso, E, Grandis, Marina, Monti Bragadin, M, Nobbio, Lucilla, Fabrizi, Gm, Cavallaro, T, Casano, A, Bertolasi, L, Cabrini, I, Corrà, K, Rizzuto, N, Santoro, L, Manganelli, F, Pisciotta, C, Nolano, M, Vita, G, Mazzeo A, ., Aguennouz, M, Di Leo, R, Majorana, G, Lanzano N, ., Valenti, F, Quattrone, A, Valentino, P, Nisticò, R, Pirritano, D, Lucisano, A, Canino, M, Padua, L, Pazzaglia, C, Granata, G, Foschini, M, Gemignani, F, Brindani, F, Vitetta, F, Allegri, I, Bogani, P. ., Visioli, F, Reilly, Mm, Rimoldi, M, Solari, A, Pareyson, D, Manganelli, Fiore, Cmt, Triaal2, CMT TRAUK, Group, Pisciotta, Chiara, Santoro, Lucio, and for the CMT, Triaal

Subjects
Drug, congenital, hereditary, and neonatal diseases and abnormalities, Ascorbic acid, Charcot-Marie-Tooth disease, Myelin, Neuromuscular disorders, Pharmacology, Pharmacology (medical), Food Science, media_common.quotation_subject, Disease, Charcot–Marie–Tooth disease, Article, law.invention, Randomized controlled trial, Pharmacokinetics, law, Medicine, media_common, Vitamin C, business.industry, Clinical trial, Tolerability, business
Abstract

Highlights ► Charcot-Marie-Tooth 1A cannot rely on effective pharmacological treatment. ► Several human trials failed to provide evidence of a therapeutic role of vitamin C. ► Human vitamin C's pharmacokinetics are tightly regulated. ► Ascorbic acid should not be given in excess of its transport system capacity., Charcot–Marie–Tooth 1A disease (CMT1A) is a disease for which no drug treatments are available. In 2004, it was reported that ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing PMP22, an animal model of human CMT1A, compared with untreated mice. Based on those results, clinical trials were undertaken at different centers worldwide and four of them have been completed, but none of them resulted in significant improvements. Based on the pharmacokinetics of ascorbic acid, we propose that the randomized clinical trial carried out thus far confirmed the tight control of ascorbic acid's absorption and proved its tolerability at one and two years. The pharmacokinetic considerations discussed in this article might largely explain the disappointing results of the recent CMT1A trials.

Published
2013

35. A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol

Author

Pareyson, D, Schenone, A, Fabrizi, Gm, Santoro, L, Padua, L, Quattrone, A, Vita, Giuseppe, Gemignani, F, Visioli, F, Solari, A, Salsano, E., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Grandis, M., Narciso, E., Nobbio, L., Benedetti, L., Rizzuto, N., Cavallaro, T., Bertolasi, L., Casano, A., Manganelli, F., Nolano, M., Pazzaglia, C., Valentino, P., Nistico’, R., Pirritano, D., Lucisano, A., Canino, M., Mazzeo, Anna, Aguennouz, M'Hammed, DI LEO, Rita, Girlanda, Paolo, Majorana, G., Ciranni, Annamaria, Lanzano, N., Brindani, F., Lettieri, C., and Bogani, P.

Published
2006

36. FUMO DI SIGARETTA E RISORSA IDRICA IN PAZIENTI AFFETTI DA CARCINOMA VESCICALE SUPERFICIALE

Author

Morgia, Giuseppe, Serretta, V., Altieri, V., Melloni, Darvinio, Galuffo, A., Motta, M., Testa, G., Magno, Carlo, Chincoli, S., Cacciatore, M., Simone, N. S., Contino, G., Pirritano, D., Gentile, M., Masala, A., D’Elia, A., Bulgarella, A., Mazza, R., Ricci Barbini, V., Raguso, G., Esposito, C., Cicalese, V., Allegro, R., and membri del GSTU, Pavone Macaluso M. e. i.

Published
2005

38. Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)

Author

Valentino P, Conforti FL, Pirritano D, Nisticò R, Mazzei R, Patitucci A, Sprovieri T, Gabriele AL, Muglia M, Clodomiro A, Gambardella A, Zappia M, and Quattrone A

Subjects
Brachial amyotrophic diplegia, SOD1 GENE
Abstract

Brachial amyotrophic diplegia (BAD) is a subtype of sporadic lower motor neuron disease (LMND) presenting with adult onset, mainly in men, and remaining largely restricted to proximal arm and shoulder girdle muscles without involvement of the lower limbs or appearance of pyramidal signs.1,2 Mutations in the copper/zinc superoxide dismutase (SOD1) gene have been described in familial cases of ALS and occurring in sporadic cases of ALS but not in patients with BAD. We describe a patient with BAD syndrome associated with a novel mutation L106P in SOD1gene. The clinical characteristics of these patients were similar to those reported in other cases of familial ALS with SOD mutations. Of note, the patients with Leu106Val substitution had an earlier age at onset than that observed in our case. L106, an evolutionarily conserved residue among different species, is the major hydrophobic plug for the end of the [beta] barrel, and L106 changes are expected to destabilize the subunit fold. Valine and proline mutants could have a different effect for maintaining the [beta]-barrel fold. Although valine at codon 106 might be expected to alter hydrophobic packing interactions of the side chain into the end of the [beta] barrel, proline at codon 106 might be expected to introduce restriction to the allowed backbone angles along the polypeptide chain turn at one pole of the [beta] barrel and could also affect packing.

Published
2005

41. Management of symptomatic benign prostatic hyperplasia in southern Italy: a retrospective analysis of the Sicilian-Calabrian Society of Urology (SSCU) of 32,000 patients

Author

Michele Pavone-Macaluso, M. Motta, Pirritano D, Giuseppe Morgia, L. Fondacaro, A. Lo Bianco, Vincenzo Serretta, F. Orestano, D. Melloni, and G. Curto

Subjects
Adult, Male, medicine.medical_specialty, Urinalysis, Urology, medicine.medical_treatment, Prostatic Hyperplasia, Transurethral prostatectomy, Prostate, Epidemiology, medicine, Humans, Minimally Invasive Surgical Procedures, Transurethral resection of the prostate, Aged, Retrospective Studies, Aged, 80 and over, Prostatectomy, medicine.diagnostic_test, Urinary retention, business.industry, Middle Aged, medicine.anatomical_structure, Italy, International Prostate Symptom Score, medicine.symptom, business, Open Prostatectomy
Abstract

Introduction: The availability of new pharmacological and surgical options is responsible for important changes in the management of symptomatic benign prostate hyperplasia (BPH). The Sicilian-Calabrian Society of Urology performed a retrospective survey to assess the management of BPH in southern Italy in 1997 and 1998. Patients and Methods: A 3-page questionnaire was sent to the 36 urological units of these two regions. The real number of patients treated was required. The numbers were checked with data obtained from the Health Regional Offices. Results: Twenty-six urological units (72.3%) replied. Almost all patients underwent urinalysis, determination of serum prostate-specific antigen and creatinine levels, and renal and postvoid vesical echography. Uroflowmetry was performed in 69% and transrectal ultrasound in 56% of the patients. International Prostate Symptom Score or other symptom scores were used in 36% of the cases. Out of 31,558 patients with symptomatic BPH, 5,636 were surgically treated. Admission was due to acute urinary retention in 1,324 cases (23.5%). Transurethral resection of the prostate was the commonest procedure, accounting for 59.5% of the interventions. Open prostatectomy was performed in 1,804 patients (32%). Minimally invasive therapies accounted for less than 9% of the treatments. Conclusions: The present survey provides a picture of the current surgical practice in BPH in southern Italy in the late 1990s. Symptom scores are not routinely adopted. The low rate of transurethral prostate resections is in keeping with the worldwide decline. On the contrary, a high rate of open prostatectomies has been detected.

Published
2002

42. Open prostatectomy for benign prostatic enlargement in southern Europe in the late 1990s: A contemporary series of 1800 interventions

Author

Gaetano Curto, Pirritano D, Giuseppe Morgia, Vincenzo Serretta, F. Orestano, Antonio Lo bianco, M. Motta, D. Melloni, Michele Pavone-Macaluso, and L. Fondacaro

Subjects
Adult, Cross-Cultural Comparison, Male, medicine.medical_specialty, Urology, medicine.medical_treatment, Urinary system, Prostatic Hyperplasia, Postoperative Complications, Prostate, medicine, Humans, Sicily, Transurethral resection of the prostate, Aged, Retrospective Studies, Aged, 80 and over, Prostatectomy, business.industry, Transurethral Resection of Prostate, Retrospective cohort study, Middle Aged, United States, Surgery, medicine.anatomical_structure, Treatment Outcome, Italy, Concomitant, Health Care Surveys, Complication, business, Open Prostatectomy
Abstract

Objectives Contemporary series of open prostatectomies from Western countries are rare. Frequently, the analysis of the outcome of open prostatectomy refers to old experiences or to series from developing countries. Any comparison with transurethral resection of the prostate can be invalidated by complications of open surgery because of the lack of an adequate healthcare system and technology. Methods The Sicilian-Calabrian Society of Urology performed a retrospective study to assess the surgical management of benign prostatic hyperplasia in Sicily and Calabria in 1997 and 1998. A three-page questionnaire was sent to the 36 urologic units of these two Italian regions with more than 7.5 million inhabitants. Results Twenty-six units (72.3%) replied. Of 31,558 patients treated for symptomatic benign prostatic hyperplasia, 5636 underwent surgery. Open prostatectomy (n = 1804) accounted for 32% of all surgical treatment. The median prostate volume was 75 cm3 and the median serum prostate-specific antigen level was 3.7 ng/mL. The postoperative median hospitalization time was 7 days. Concomitant low urinary tract disease was present in 25% of the patients. Severe bleeding occurred in 11.6% of open prostatectomies. Blood transfusions were given in 8.2% of cases. Sepsis was reported in 8.6% of the patients. Reinterventions, within 2 years, mainly due to bladder neck stenosis, were reported in 3.6% of cases. Conclusions The results of the present survey provide a current picture of open prostatectomy. This procedure, even if performed nowadays and in Western countries, shows the same significant rate of early and late complications reported in the past or in less-developed countries.

Published
2002

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