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2. Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA project

Author

Bersano, A, Scelzo, E, Pantoni, L, Morotti, A, Erbetta, A, Chiapparini, L, Vitali, P, Giaccone, G, Caroppo, P, Catania, M, Obici, L, Di Fede, G, Gatti, L, Tinelli, F, Di Francesco, J, Piazza, F, Ferrarese, C, Gasparini, M, Adobbati, L, Bianchi-Marzoli, S, Tremolada, G, Sacco, S, Mancuso, M, Zedde, M, Godani, M, Lanfranconi, S, Pareyson, D, Di Girolamo, M, Motto, C, Charidimou, A, Boulouis, G, Parati, E, Bersano, Anna, Scelzo, Emma, Pantoni, Leonardo, Morotti, Andrea, Erbetta, Alessandra, Chiapparini, Luisa, Vitali, Paolo, Giaccone, Giorgio, Caroppo, Paola, Catania, Marcella, Obici, Laura, Di Fede, Giuseppe, Gatti, Laura, Tinelli, Francesca, Di Francesco, Jacopo C., Piazza, Fabrizio, Ferrarese, Carlo, Gasparini, Massimo, Adobbati, Laura, Bianchi-Marzoli, Stefania, Tremolada, Gemma, Sacco, Simona, Mancuso, Michelangelo, Zedde, Maria Luisa, Godani, Massimiliano, Lanfranconi, Silvia, Pareyson, Davide, Di Girolamo, Marco, Motto, Cristina, Charidimou, Andreas, Boulouis, Gregoire, Parati, Eugenio A., Bersano, A, Scelzo, E, Pantoni, L, Morotti, A, Erbetta, A, Chiapparini, L, Vitali, P, Giaccone, G, Caroppo, P, Catania, M, Obici, L, Di Fede, G, Gatti, L, Tinelli, F, Di Francesco, J, Piazza, F, Ferrarese, C, Gasparini, M, Adobbati, L, Bianchi-Marzoli, S, Tremolada, G, Sacco, S, Mancuso, M, Zedde, M, Godani, M, Lanfranconi, S, Pareyson, D, Di Girolamo, M, Motto, C, Charidimou, A, Boulouis, G, Parati, E, Bersano, Anna, Scelzo, Emma, Pantoni, Leonardo, Morotti, Andrea, Erbetta, Alessandra, Chiapparini, Luisa, Vitali, Paolo, Giaccone, Giorgio, Caroppo, Paola, Catania, Marcella, Obici, Laura, Di Fede, Giuseppe, Gatti, Laura, Tinelli, Francesca, Di Francesco, Jacopo C., Piazza, Fabrizio, Ferrarese, Carlo, Gasparini, Massimo, Adobbati, Laura, Bianchi-Marzoli, Stefania, Tremolada, Gemma, Sacco, Simona, Mancuso, Michelangelo, Zedde, Maria Luisa, Godani, Massimiliano, Lanfranconi, Silvia, Pareyson, Davide, Di Girolamo, Marco, Motto, Cristina, Charidimou, Andreas, Boulouis, Gregoire, and Parati, Eugenio A.

Abstract

Cerebral amyloid angiopathy (CAA) is one of the major types of cerebral small vessel disease, and a leading cause of spontaneous intracerebral hemorrhage and cognitive decline in elderly patients. Although increasingly detected, a number of aspects including the pathophysiology, the clinical and neuroradiological phenotype, and the disease course are still under investigation. The incomplete knowledge of the disease limits the implementation of evidence-based guidelines on patient’s clinical management and the development of treatments able to prevent or reduce disease progression. The SENECA (SEarchiNg biomarkErs of Cerebral Angiopathy) project is the first Italian multicenter cohort study aimed at better defining the disease natural history and identifying clinical and neuroradiological markers of disease progression. By a multidisciplinary approach and the collection of a large and well-phenotyped series and biorepository of CAA patients, the study is ultimately expected to improve the diagnosis and the knowledge of CAA pathophysiological mechanisms.

Published
2020

4. The role of clinical and neuroimaging features in the diagnosis of CADASIL

Author

Bersano, A, Bedini, G, Markus, H, Vitali, P, Colli-Tibaldi, E, Taroni, F, Gellera, C, Baratta, S, Mosca, L, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Lanfranconi, S, Mazucchelli, F, Zarcone, D, De Lodovici, M, Bono, G, Boncoraglio, G, Parati, E, Calloni, M, Perrone, P, Bordo, B, Motto, C, Agostoni, E, Pezzini, A, Padovani, A, Micieli, G, Cavallini, A, Molini, G, Sasanelli, F, Sessa, M, Comi, G, Checcarelli, N, Carmerlingo, M, Corato, M, Marcheselli, S, Fusi, L, Grampa, G, Uccellini, D, Beretta, S, Ferrarese, C, Incorvaia, B, Tadeo, C, Adobbati, L, Silani, V, Faragò, G, Trobia, N, Grond-Ginsbach, C, Candelise, L, Mazzucchelli, F, Guidotti, M, Riva, M, Iurlaro, S, Maria, B, Braga, M, Meola, G, Carpo, M, Camerlingo, M, Borutti, G, Delodovici, M, Verrengia, E, Tancredi, L, Terruzzi, A, Magoni, M, Del Zotto, E, Bassi, P, Lattuada, P, Ballabio, E, Gambaro, P, Corrà, B, Canavero, I, Arbustini, E, Grasso, M, Corti, S, Ronchi, D, Merlini, G, Obici, L, Bassi, M, Tagliavini, F, Ginsbach, C, Bersano, Anna, BEDINI, GLORIA, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, FERRARI, MAURIZIO, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, CORATO, MANUEL, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, Mazzucchelli, Franca, Guidotti, Mario, Riva, Maurizio, Iurlaro, Simona, Maria, Bianca Bordo, Braga, Massimiliano, Meola, Giovanni, Carpo, Marinella, Camerlingo, Massimo, Borutti, Giuseppina, Delodovici, Marialuisa, Verrengia, Elena Pinuccia, Tancredi, Lucia, Terruzzi, Alessandro, Magoni, Mauro, Del Zotto, Elisabetta, Bassi, Pietro, Lattuada, Patrizia, Ballabio, Elena, Gambaro, Paola, Lanfranconi, Sivia, Corrà, Barbara, Canavero, Isabella, Arbustini, Eloisa, Grasso, Maurizia, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario, Merlini, Giampaolo, Obici, Laura, Bassi, Maria Teresa, Tagliavini, Fabrizio, Ginsbach, Caspar Grond, Bersano, A, Bedini, G, Markus, H, Vitali, P, Colli-Tibaldi, E, Taroni, F, Gellera, C, Baratta, S, Mosca, L, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Lanfranconi, S, Mazucchelli, F, Zarcone, D, De Lodovici, M, Bono, G, Boncoraglio, G, Parati, E, Calloni, M, Perrone, P, Bordo, B, Motto, C, Agostoni, E, Pezzini, A, Padovani, A, Micieli, G, Cavallini, A, Molini, G, Sasanelli, F, Sessa, M, Comi, G, Checcarelli, N, Carmerlingo, M, Corato, M, Marcheselli, S, Fusi, L, Grampa, G, Uccellini, D, Beretta, S, Ferrarese, C, Incorvaia, B, Tadeo, C, Adobbati, L, Silani, V, Faragò, G, Trobia, N, Grond-Ginsbach, C, Candelise, L, Mazzucchelli, F, Guidotti, M, Riva, M, Iurlaro, S, Maria, B, Braga, M, Meola, G, Carpo, M, Camerlingo, M, Borutti, G, Delodovici, M, Verrengia, E, Tancredi, L, Terruzzi, A, Magoni, M, Del Zotto, E, Bassi, P, Lattuada, P, Ballabio, E, Gambaro, P, Corrà, B, Canavero, I, Arbustini, E, Grasso, M, Corti, S, Ronchi, D, Merlini, G, Obici, L, Bassi, M, Tagliavini, F, Ginsbach, C, Bersano, Anna, BEDINI, GLORIA, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, FERRARI, MAURIZIO, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, CORATO, MANUEL, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, Mazzucchelli, Franca, Guidotti, Mario, Riva, Maurizio, Iurlaro, Simona, Maria, Bianca Bordo, Braga, Massimiliano, Meola, Giovanni, Carpo, Marinella, Camerlingo, Massimo, Borutti, Giuseppina, Delodovici, Marialuisa, Verrengia, Elena Pinuccia, Tancredi, Lucia, Terruzzi, Alessandro, Magoni, Mauro, Del Zotto, Elisabetta, Bassi, Pietro, Lattuada, Patrizia, Ballabio, Elena, Gambaro, Paola, Lanfranconi, Sivia, Corrà, Barbara, Canavero, Isabella, Arbustini, Eloisa, Grasso, Maurizia, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario, Merlini, Giampaolo, Obici, Laura, Bassi, Maria Teresa, Tagliavini, Fabrizio, and Ginsbach, Caspar Grond

Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. Methods: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities. Results: 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity. Conclusions: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield.

Published
2018

5. Impact of obstructive sleep apnea on cardiac organ damage in patients with acute ischemic stroke

Author

Mattaliano, P, Lombardi, C, Sangalli, D, Faini, A, Corrà, B, Adobbati, L, Branzi, G, Mariani, D, Silani, V, Parati, G, Mattaliano, Paola, Lombardi, Carolina, Sangalli, Davide, Faini, Andrea, Corrà, Barbara, Adobbati, Laura, Branzi, Giovanna, Mariani, Davide, Silani, Vincenzo, Parati, Gianfranco, Mattaliano, P, Lombardi, C, Sangalli, D, Faini, A, Corrà, B, Adobbati, L, Branzi, G, Mariani, D, Silani, V, Parati, G, Mattaliano, Paola, Lombardi, Carolina, Sangalli, Davide, Faini, Andrea, Corrà, Barbara, Adobbati, Laura, Branzi, Giovanna, Mariani, Davide, Silani, Vincenzo, and Parati, Gianfranco

Abstract

Background and purpose: Both obstructive sleep apnea (OSA) and cardiac organ damage have a crucial role in acute ischemic stroke. Our aim is to explore the relationship between OSA and cardiac organ damage in acute stroke patients. Methods: A total of 130 consecutive patients with acute ischemic stroke were enrolled. Patients underwent full multichannel 24-h polysomnography for evaluation of OSA and echocardiography to evaluate left ventricle (LV) mass index (LV mass/BSA, LV mass/height 2.7), thickness of interventricular septum (IVS) and posterior wall (LVPW), LV ejection fraction and left atrium enlargement. Information on occurrence of arterial hypertension and its treatment before stroke was obtained from patients' history. Results: 61.9% (70) of patients, mostly men (67.1%), with acute stroke had OSA (AHI > 10). Patients with acute stroke and OSA showed a significant increase (P < 0.05) of LV mass index, IVS and LVPW thickness and a significant left atrial enlargement as compared with patients without OSA. LV ejection fraction was not significantly different in stroke patients with and without OSA and was within normal limits. No relationship was found among cardiac alterations, occurrence of OSA and history of hypertension. Conclusion: Acute stroke patients with OSA had higher LV mass and showed greater left atrial enlargement than patients without OSA. This study confirms the high prevalence of OSA in stroke patients, suggesting also an association between OSA and cardiac target organ damage. Our finding of structural LV abnormalities in acute stroke patients with OSA suggests a potential role of OSA as contributing factor in determining both cerebrovascular and cardiac damage, even in absence of clear link with a history of blood pressure elevation.

Published
2018

6. Status update and interim results from the asymptomatic carotid surgery trial-2 (ACST-2)

Author

Bulbulia, R, Gray, W, Naughten, A, den Hartog, A, Delmestri, A, Wallis, C, le Conte, S, Macdonald, S, Radak, D, Nessi, F, Torsello, G, Hendriks, J, Bjorses, K, Davidovic, L, Tusini, N, Gillgren, P, Casana, R, Tolva, V, Bausback, Y, Mehrzad, A, Gottsäter, A, Esisi, B, Cras, P, Hendriks, Jm, Lauwers, P, Hertoghs, M, Van Schil, P, De Jaegher, L, Peeters, P, Verbist, J, Dendooven, D, De Letter, J, Vanhooren, G, Astarci, P, Capron, I, Choghari, C, Hammer, F, Lacroix, V, Peeters, A, Verhelst, R, Bosiers, M, De Meester, K, Deloose, K, Van Buggenhout, E, Vinck, E, Geenens, M, Hemelsoet, D, Van Herzeele, I, Vermassen, F, De Koster, G, Desiron, Q, Maertens de Noordhout, A, Malmendier, D, Massoz, M, Saad, G, Cirelli, S, Dormal, P, Lerut, P, Thues, E, Coutts, S, Demchuk, A, Hill, M, Hudon, M, Klein, G, Mcclelland, M, Morrish, W, Samis, G, Sutherland, G, Watson, T, Wong, J, Liu, B, Liu, Cw, Barankova, L, Chlouba, V, Fiedler, J, Priban, V, Sterba, L, Kalabova, L, Kriz, Z, Krupa, P, Privara, M, Reif, M, Souckova, L, Staffa, R, Vlachovsky, R, Vojtisek, B, Hrbac, T, Kuliha, M, Prochazka, V, Roubec, M, Skoloudik, D, Abd Allah, F, Eldessoki, Mh, Kassem, Hh, Gharieb, Hs, Cardon, Jm, Le Gallou Wittenberg, A, Allaire, E, Becquemin, Jp, Cochennec, F, Desgranges, P, Hosseini, H, Kobeiter, H, Marzelle, J, Bergeron, P, Padovani, R, Trastour, Jc, Biermaier, B, Gissler, Hm, Klotzsch, C, Pfeiffer, T, Schneider, R, Soehl, L, Wennrih, M, Botsios, S, Branzan, D, Braunlich, S, Holzer, H, Lenzer, J, Reichenbecher, C, Piorkowski, C, Schuster, J, Scheinert, D, Schmidt, A, Ulrich, M, Werner, M, Coster, A, Engelhardt, A, Ratusinski, Cm, Berekoven, B, Frerker, K, Gordon, V, Bellenis, I, Polydorou, A, Polydorou, V, Tavernarakis, A, Ioannou, N, Terzoudi, M, Chatzinikou, E, Giannoukas, A, Hadjigeorgiou, G, Koutsias, S, Ralli, S, Rousas, N, Nemes, B, Jàrànyi, Z, Szabo, A, Varga, D, Barzo, P, Bodosi, M, Fako, E, Fulop, B, Kuncz, A, Nagy, E, Nemeth, T, Pazdernyik, S, Skoba, K, Voros, E, Haider, Sn, Harbison, J, Madhavan, P, Moore, D, Beyar, R, Hoffman, A, Karram, T, Kerner, A, Nikolsky, E, Nitecki, S, Amatucci, G, Vittorio, P, Frederico, Marinazzo, D, Regina, G, Giaquinta, A, Patti, F, Veroux, M, Veroux, P, Adobbati, L, Bertoni, G, Bianchi, P, Cireni, L, Martello, L, Arcuri, L, Casoni, F, Coppi, G, Moratto, R, Veronesi, J, Bajardi, G, Savettieri, G, Corbetta, R, Odero, A, Quaretti, P, Thyrion, Z, Cao, P, Caso, V, Derango, P, Farchioni, L, Parlani, G, Malferrari, G, Strozzi, F, Vecchiati, E, Biello, Antonella, Capoccia, Laura, Menna, Danilo, Rizzo, ANNA RITA, Sbarigia, Enrico, Speziale, Francesco, Toni, D, Giovanni, M, Meola, G, Nano, G, Occiuto, Mt, Stegher, S, Tealdi, D, Accrocca, F, Ambrogi, C, Barbazza, R, Marcucci, G, Cappelli, A, de Donato, G, Palasciano, G, Pieragalli, D, Setacci, C, Settaci, F, Labate, C, Ferrero, E, Ferri, M, Viazzo, A, Castelli, P, Delodovici, Ml, Ferrario, M, Piffaretti, G, Tomei, G, Furui, E, Inoue, T, Kondo, R, Matsumoto, Y, Shimizu, H, Aidashova, B, Kospanov, N, Lyssenko, R, Mussagaliev, D, De Borst GJ, Den Hartog AG, Lo, R, Moll, F, Toorop, R, Van Der Worp HB, Vonken, Ej, Bakke, S, Krohg Sorensen, K, Skjelland, M, Andziak, P, Drelichowski, S, Dratwicki, M, Gil, R, Iwanowski, W, Koncewicz, K, Nowicki, M, Pniewski, J, Rzezak, J, Seweryniak, P, Bialek, P, Biejat, Z, Czepel, W, Czlonkowska, A, Dowzenko, A, Jedzrejewska, J, Kobayashi, A, Leszezyuski, J, Malek, A, Polanski, J, Proczka, R, Skorski, M, Szostek, M, Aleksic, N, Babic, S, Kolar, J, Sagic, D, Tanaskovic, S, Colic, M, Jovanovic, D, Koncar, I, Bartko, D, Beno, P, Rusnak, F, Zelenak, K, Gasparini, M, Grad, A, Kompara, I, Milosevic, Z, Flis, V, Matela, J, Miksic, K, Milotic, F, Mrdja, B, Stirn, B, Tetickovic, E, Chamorro, A, Obach, V, Riambau, V, Roman, S, Blanco, E, Izquierdo, Ay, Guerra, M, Campbell, E, Lindgren, H, Nyberg, J, Plate, G, Parsson, H, Qvarfordt, P, Acosta, S, Brandt, K, Dias, N, Gottsater, A, Holst, J, Kristmundsson, T, Kuhme, T, Kolbel, T, Lindblad, B, Lindh, M, Malina, M, Ohrlander, T, Resch, T, Rönnle, V, Sonesson, B, Warvsten, M, Zdanowski, Z, Bengt, B, Delle, M, Formgren, J, Jarl, L, Kall, Tb, Konrad, P, Nyman, N, Skioldebrand, C, Steuer, J, Takolander, R, Ahlhelm, Fj, Bonati, L, Engelter, Ss, Eugster, T, Gensicke, H, Lyrer, P, Mariani, L, Stierli, P, Stippich, C, Wolff, T, Brown, E, Butler, N, Day, Dj, Hayes, P, Higgins, N, Jumilla, E, Martin, P, Mitchell, J, Varty, K, Birt, A, Davies, P, George, J, Graham, A, Jonker, L, Joseph, T, Kelsall, N, Potts, C, Wilson, T, Davey, P, Hayman, R, Tervitt, G, Abdul Hamiq, A, Bryce, J, Chetter, I, Ettles, D, Lakshminarayan, R, Mitchelsonm, K, Rhymes, C, Robinson, G, Scott, P, Vickers, A, Baht, H, Balogun, I, Burger, I, Cowie, L, Gunathilagan, G, Hargroves, D, Insall, R, Jones, S, Rudenko, H, Senaratne, J, Thomas, G, Thomson, A, Enevoldson, P, Nahser, H, O'Brian, I, Torella, F, Watling, D, White, R, Clifton, A, Eley, C, Khanom, N, O'Reilly, J, Pereira, A, Bicknell, C, Cheshire, N, Gibbs, R, Hamady, M, James, A, Jenkins, M, Lacey, A, Mireskandari, M, Sachs, T, Wolfe, J, Hardy, D, Justin, F, Phiri, L, Sekaran, L, Sethuraman, S, Tate, L, Akyea Mensah, J, Chrisopoulou, A, Smyth, Jv, Nichol, I, Parry, A, Young, G, Clarke, M, Davis, M, Dixit, A, Dyker, A, Ford, G, Jackson, R, Kappadath, S, Lambert, D, Lees, T, Louw, S, Parr, N, Stansby, G, Wales, L, Wealleans, V, Wilson, L, Wyatt, M, Dorman, P, Hughes, A, Jones, D, Mendelow, Ad, Rodgers, H, Macsweeney, S, Mcconachie, N, Southam, A, Sunman, W, Briley, D, Darby, C, Handa, A, Hands, L, Kuker, W, Michael, K, Perkins, J, Schulz, U, Smith, D, Teal, R, Donnelly, M, D'Souza, S, Asehosem Egun, A, Gregory, B, Kelly, C, Punekar, S, Raj, S, Seriki, D, Thomson, G, Beard, J, Cleveland, T, Humphreys, J, Jenkins, A, King, C, Lonsdale, R, Nair, R, Nawaz, S, Okhuoya, F, Turner, D, Venables, G, Brown, J, Durairajan, R, Guyler, P, Harman, P, Jakeways, M, Khuoge, C, Kundu, A, Loganathan, T, Sinha, D, Thompson, V, Tysoe, S, Barer, Brown, A, Crawford, S, Dunlop, P, Majmudar, Mitchell, D, O'Brien, O'Connell, Scott, Vetrivel, S, Ashleigh, R, Butterfield, S, Gamble, G, Ghosh, J, Mccollum, C, Welch, M, Welsh, S, Kazan, V, Nazzal, M, Ramsey Williams, V, Halliday, A, Davies, C, Peto, R, Gray, A, Mihaylova, B, Potter, J, Flather, M, Mansfield, A, Farrell, B, Rahimi, K, Simpson, D, Thomas, D, Gough, M, Rothwell, P, Giles, M, Leopold, P, Belli, A, Sandercock, P, Gray, R, Shearman, C, Molyneux, A, Hayter, E, Lay, M, Munday, A, Young, A, Delmestri, A., Halliday, A, Bulbulia, R, Gray, W, Naughten, A, den Hartog, A, Delmestri, A, Wallis, C, le Conte, S, Macdonald, S, Tolva, V, Cras, Patrick, Hendriks, Jeroen, Lauwers, Patrick, van Schil, Paul, ACST-2 Collaborative Group, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - SSS/IREC/IMAG - Pôle d'imagerie médicale, UCL - (SLuc) Service de chirurgie cardiovasculaire et thoracique, UCL - (SLuc) Service de radiologie, and UCL - (SLuc) Service de neurologie

Subjects
Male, Time Factors, Carotid artery stenosis, Carotid artery stenting, Carotid endarterectomy, Randomized controlled trial, Stroke, medicine.medical_treatment, Myocardial Infarction, Severity of Illness Index, law.invention, law, Risk Factors, MED/22 - CHIRURGIA VASCOLARE, Carotid Stenosis, Endarterectomy, Endarterectomy, Carotid, Middle Aged, Treatment Outcome, Female, Stents, medicine.symptom, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, Aged, Angioplasty, Asymptomatic Diseases, Cardiovascular Agents, Humans, Patient Selection, Risk Assessment, Asymptomatic, medicine, Carotid, business.industry, Vascular surgery, medicine.disease, Surgery, Cardiovascular agent, Human medicine, business
Abstract

Objectives: ACST-2 is currently the largest trial ever conducted to compare carotid artery stenting (CAS) with carotid endarterectomy (CEA) in patients with severe asymptomatic carotid stenosis requiring revascularization. Methods: Patients are entered into ACST-2 when revascularization is felt to be clearly indicated, when CEA and CAS are both possible, but where there is substantial uncertainty as to which is most appropriate. Trial surgeons and interventionalists are expected to use their usual techniques and CE-approved devices. We report baseline characteristics and blinded combined interim results for 30-day mortality and major morbidity for 986 patients in the ongoing trial up to September 2012. Results: A total of 986 patients (687 men, 299 women), mean age 68.7 years (SD ± 8.1) were randomized equally to CEA or CAS. Most (96%) had ipsilateral stenosis of 70-99% (median 80%) with contralateral stenoses of 50-99% in 30% and contralateral occlusion in 8%. Patients were on appropriate medical treatment. For 691 patients undergoing intervention with at least 1-month follow-up and Rankin scoring at 6 months for any stroke, the overall serious cardiovascular event rate of periprocedural (within 30 days) disabling stroke, fatal myocardial infarction, and death at 30 days was 1.0%. Conclusions: Early ACST-2 results suggest contemporary carotid intervention for asymptomatic stenosis has a low risk of serious morbidity and mortality, on par with other recent trials. The trial continues to recruit, to monitor periprocedural events and all types of stroke, aiming to randomize up to 5,000 patients to determine any differential outcomes between interventions. Clinical trial: ISRCTN21144362. © 2013 European Society for Vascular Surgery. Published by Elsevier Ltd. All rights reserved.

Published
2016

8. Clinical factors associated with statins prescription in acute ischemic stroke patients: findings from the Lombardia Stroke Registry

Author

Canavero, I, Cavallini, A, Perrone, P, Magoni, M, Sacchi, L, Quaglini, S, Lanzola, G, Micieli, G, Adobbati, L, Silani, V, Agostoni, E, Scaccabarozzi, C, Arnaboldi, M, Vidale, S, Baietti, G, Bettoni, L, Balducci, U, Chia, F, Baron, P, Bresolin, N, Bassi, P, Bazzi, P, Crespi, V, Beretta, S, Bet, L, Meola, G, Bezzi, G, Boncoraglio, G, Parati, E, Bono, G, Delodovici, M, Bordo, B, Colombo, A, Borutti, G, Piccolo, G, Brusaferri, F, Prelle, A, Calloni, M, Camerlingo, M, Censori, B, Cerini, C, Turla, M, Checcarelli, N, Guidotti, M, Comi, G, Sessa, M, Costa, A, Donati, E, Ferrante, C, Frediani, F, Lattuada, P, Poloni, E, Gambaro, P, Mariani, C, Gomitoni, A, Grampa, G, Lanza, E, Magnoni, A, Marcheselli, S, Marsile, C, Molini, G, Sasanelli, F, Martignoni, A, Mattioli, M, Neromante, I, Porazzi, D, Poloni, M, Previdi, P, Silvestrelli, G, Riva, M, Zilioli, A, Romorini, A, Santilli, I, Tadeo, C, Zaccone, M, Zarcone, D., FERRARESE, CARLO, Canavero, I, Cavallini, A, Perrone, P, Magoni, M, Sacchi, L, Quaglini, S, Lanzola, G, Micieli, G, Adobbati, L, Silani, V, Agostoni, E, Scaccabarozzi, C, Arnaboldi, M, Vidale, S, Baietti, G, Bettoni, L, Balducci, U, Chia, F, Baron, P, Bresolin, N, Bassi, P, Bazzi, P, Crespi, V, Beretta, S, Ferrarese, C, Bet, L, Meola, G, Bezzi, G, Boncoraglio, G, Parati, E, Bono, G, Delodovici, M, Bordo, B, Colombo, A, Borutti, G, Piccolo, G, Brusaferri, F, Prelle, A, Calloni, M, Camerlingo, M, Censori, B, Cerini, C, Turla, M, Checcarelli, N, Guidotti, M, Comi, G, Sessa, M, Costa, A, Donati, E, Ferrante, C, Frediani, F, Lattuada, P, Poloni, E, Gambaro, P, Mariani, C, Gomitoni, A, Grampa, G, Lanza, E, Magnoni, A, Marcheselli, S, Marsile, C, Molini, G, Sasanelli, F, Martignoni, A, Mattioli, M, Neromante, I, Porazzi, D, Poloni, M, Previdi, P, Silvestrelli, G, Riva, M, Zilioli, A, Romorini, A, Santilli, I, Tadeo, C, Zaccone, M, and Zarcone, D

Subjects
TOAST Classification, Registrie, Male, medicine.medical_specialty, Neurology, Statin, medicine.drug_class, Clinical Neurology, Follow-Up Studie, Brain Ischemia, Brain ischemia, Risk Factors, Internal medicine, medicine, Humans, cardiovascular diseases, Registries, Medical prescription, Stroke, Aged, Aged, 80 and over, Ischemic stroke, business.industry, Risk Factor, Statins, Adherence, Classification tree, Performance predictors, nutritional and metabolic diseases, General Medicine, medicine.disease, Performance predictor, Italy, Physical therapy, Female, Neurosurgery, Hydroxymethylglutaryl-CoA Reductase Inhibitor, Neurology (clinical), Hydroxymethylglutaryl-CoA Reductase Inhibitors, business, Dyslipidemia, Human, Research Article, Follow-Up Studies
Abstract

Background: Statins, due to their well-established pleiotropic effects, have noteworthy benefits in stroke prevention. Despite this, a significant proportion of high-risk patients still do not receive the recommended therapeutic regimens, and many others discontinue treatment after being started on them. The causes of non-adherence to current guidelines are multifactorial, and depend on both physicians and patients. The aim of this study is to identify the factors influencing statin prescription at Stroke Unit (SU) discharge.Methods: This study included 12,750 patients enrolled on the web-based Lombardia Stroke Registry (LRS) from July 2009 to April 2012 and discharged alive, with a diagnosis of ischemic stroke or transient ischemic attack (TIA) and without contra-indication to statin therapy. By logistic regression analysis and classification trees, we evaluated the impact of demographic data, risk factors, tPA treatment, in-hospital procedures and complications on statin prescription rate at discharge.Results: We observed a slight increase in statins prescription during the study period (from 39.1 to 43.9%). Lower age, lower stroke severity and prestroke disability, the presence of atherothrombotic/lacunar risk factors, a diagnosis of non-cardioembolic stroke, tPA treatment, the absence of in-hospital complications, with the sole exception of hypertensive fits and hyperglycemia, were the patient-related predictors of adherence to guidelines by physicians. Overall, dyslipidemia appears as the leading factor, while TOAST classification does not reach statistical significance.Conclusions: In our region, Lombardia, adherence to guidelines in statin prescription at Stroke Unit discharge is very different from international goals. The presence of dyslipidemia remains the main factor influencing statin prescription, while the presence of well-defined atherosclerotic etiopathogenesis of stroke does not enhance statin prescription. Some uncertainties about the risk/benefit of statin therapy in stroke etiology subtypes (cardioembolism, other or undetermined causes) may partially justify the underuse of statin in ischemic stroke. The differences that exist between current international guidelines may prevent a more widespread use of statin and should be clarified in a consensus. © 2014 Canavero et al.; licensee BioMed Central Ltd

Published
2014

11. The THRombolysis and STatins (THRaST) study

Author

Cappellari, M, Bovi, P, Moretto, G, Zini, A, Nencini, P, Sessa, M, Furlan, M, Pezzini, A, Orlandi, G, Paciaroni, M, Tassinari, T, Procaccianti, G, Di Lazzaro, V, Bettoni, L, Gandolfo, C, Silvestrelli, G, Rasura, M, Martini, G, Melis, M, Calloni, M, Chiodo Grandi, F, Beretta, S, Guarino, M, Altavista, M, Marcheselli, S, Galletti, G, Adobbati, L, Del Sette, M, Mancini, A, Orrico, D, Monaco, S, Cavallini, A, Sciolla, R, Federico, F, Scoditti, U, Brusaferri, F, Grassa, C, Specchio, L, Bongioanni, M, Sparaco, M, Zampolini, M, Greco, G, Colombo, R, Passarella, B, Adami, A, Consoli, D, Toni, D, Toni, D., BERETTA, SIMONE, Cappellari, M, Bovi, P, Moretto, G, Zini, A, Nencini, P, Sessa, M, Furlan, M, Pezzini, A, Orlandi, G, Paciaroni, M, Tassinari, T, Procaccianti, G, Di Lazzaro, V, Bettoni, L, Gandolfo, C, Silvestrelli, G, Rasura, M, Martini, G, Melis, M, Calloni, M, Chiodo Grandi, F, Beretta, S, Guarino, M, Altavista, M, Marcheselli, S, Galletti, G, Adobbati, L, Del Sette, M, Mancini, A, Orrico, D, Monaco, S, Cavallini, A, Sciolla, R, Federico, F, Scoditti, U, Brusaferri, F, Grassa, C, Specchio, L, Bongioanni, M, Sparaco, M, Zampolini, M, Greco, G, Colombo, R, Passarella, B, Adami, A, Consoli, D, Toni, D, Toni, D., and BERETTA, SIMONE

Abstract

Objective: To assess the impact on stroke outcome of statin use in the acute phase after IV thrombolysis. Methods: Multicenter study on prospectively collected data of 2,072 stroke patients treated with IV thrombolysis. Outcome measures of efficacy were neurologic improvement (NIH Stroke Scale [NIHSS] ≤ 4 points from baseline or NIHSS = 0) and major neurologic improvement (NIHSS ≤ 8 points from baseline or NIHSS = 0) at 7 days and favorable (modified Rankin Scale [mRS] ≤ 2) and excellent functional outcome (mRS ≤ 1) at 3 months. Outcome measures of safety were 7-day neurologic deterioration (NIHSS ≥ 4 points from baseline or death), symptomatic intracerebral hemorrhage type 2 with NIHSS ≥ 4 points from baseline or death within 36 hours, and 3-month death. Results: Adjusted multivariate analysis showed that statin use in the acute phase was associated with neurologic improvement (odds ratio [OR] 1.68, 95% confidence interval [CI] 1.26-2.25; p < 0.001), major neurologic improvement (OR 1.43, 95% CI 1.11-1.85; p = 0.006), favorable functional outcome (OR 1.63, 95% CI 1.18-2.26; p = 0.003), and a reduced risk of neurologic deterioration (OR: 0.31, 95% CI 0.19-0.53; p < 0.001) and death (OR 0.48, 95% CI 0.28-0.82; p = 0.007). Conclusion: Statin use in the acute phase of stroke after IV thrombolysis may positively influence short- and long-term outcome. © 2013 American Academy of Neurology.

Published
2013

12. Carotid artery stenting in patients with acute coronary syndrome: a possible primary therapy for symptomatic carotid stenosis

Author

Casana, R, Halliday, A, Bianchi, P, Fresa, E, Silani, V, Parati, G, Blengino, S, Cireni, L, Adobbati, L, Calvillo, L, Tolva, V, PARATI, GIANFRANCO, TOLVA, VALERIO STEFANO, Casana, R, Halliday, A, Bianchi, P, Fresa, E, Silani, V, Parati, G, Blengino, S, Cireni, L, Adobbati, L, Calvillo, L, Tolva, V, PARATI, GIANFRANCO, and TOLVA, VALERIO STEFANO

Abstract

Purpose: To report the results of carotid artery stenting (CAS) in symptomatic patients (stroke/transient ischemic attack) after recent percutaneous transluminal coronary angioplasty (PTCA) for acute coronary syndrome (ACS). Methods: Between January 2009 and July 2011, 28 consecutive patients (18 women; mean age 66 years, range 42-82) underwent protected CAS for symptomatic carotid stenosis following recent PTCA that included bare or drug-eluting stents requiring uninterrupted dual antiplatelet therapy. Primary technical success, neurological complications, major adverse cardiovascular events, and death were evaluated at 30 days and over midterm follow-up. Results: Technical success was 96%; 1 patient suffered a nonfatal major stroke (3.5% 30-day stroke rate) during the procedure. During a median 21.6-month follow-up, 4 (14%) patients died of myocardial infarction (all diabetic smokers with ejection fractions <40%), but there were no new neurological events. Estimated survival was 89.3% at 2 years. Further coronary interventions were performed in 2 diabetic patients with a body mass index >34 kg/m(2). Conclusion: This preliminary experience demonstrated that CAS is a reasonable, safe, and effective treatment for patients with symptomatic carotid artery stenosis who were recently treated with coronary stents requiring uninterrupted dual antiplatelet therapy

Published
2013

13. Retrospective study of patients affected of a large population with mitochondrial disorders: clinical, morphological and molecular genetic evaluation

Author

Sciacco, M., Prelle, A., Comi, G. P., Napoli, L., Battistel, A., Bresolin, N., Tancredi, L., Lamperti, C., Bordoni, A., Fagiolari, G., Ciscato, P., Chiveri, L., Perini, M. P., Fortunato, F., Adobbati, L., Messina, Sonia, Toscano, Antonio, Martinelli Boneschi, F., Papadimitriou, A. ., Scarlato, G., and Moggio, M.

Subjects
Clinical evaluation, Mitochondrial, Neurogenetics, Neuromuscular disease
Published
2001

14. Critically ill patients: immunological evidence of inflammation in muscle biopsy

Author

Bazzi, P., Moggio, M., Prelle, A., Monica Sciacco, Messina, S., Barbieri, S., Tonin, P., Tomelleri, G., Battistel, A., Adobbati, L., Checcarelli, N., Veschi, G., and Scarlato, G.

Subjects
Adult, Male, Histocytochemistry, Biopsy, Critical Illness, Middle Aged, Immunohistochemistry, patients, inflammatory process, Microscopy, Electron, Necrosis, Muscular Diseases, inflammation, muscle necrosis, Humans, Female, muscle biopsy, Aged
Abstract

To verify whether muscle necrosis in critically ill patients could be due to an inflammatory process, we tested muscle biopsies from five intensive care patients with different inflammation-specific immunocytochemical markers (antibodies anti-class I major histocompatibility complex products (class I MHCP or HLA I), membrane attack complex (MAC), T lymphocytes helper-inducer (CD4), cytotoxic (CD8) and pan-B-lymphocytes).In three patients muscle biopsy showed class I MHCP positivity on the surface membrane of several groups of fibres, mainly perifascicular, and scattered microvascular deposits of MAC. In the other two patients muscle biopsy did not show class I MHCP and MAC positivity.Our results suggest that inflammation may be a component of muscle damage in some critically ill patients.

Published
1999

15. The THRombolysis and STatins (THRaST) study

Author

Cappellari, M., primary, Bovi, P., additional, Moretto, G., additional, Zini, A., additional, Nencini, P., additional, Sessa, M., additional, Furlan, M., additional, Pezzini, A., additional, Orlandi, G., additional, Paciaroni, M., additional, Tassinari, T., additional, Procaccianti, G., additional, Di Lazzaro, V., additional, Bettoni, L., additional, Gandolfo, C., additional, Silvestrelli, G., additional, Rasura, M., additional, Martini, G., additional, Melis, M., additional, Calloni, M. V., additional, Chiodo-Grandi, F., additional, Beretta, S., additional, Guarino, M., additional, Altavista, M. C., additional, Marcheselli, S., additional, Galletti, G., additional, Adobbati, L., additional, Del Sette, M., additional, Mancini, A., additional, Orrico, D., additional, Monaco, S., additional, Cavallini, A., additional, Sciolla, R., additional, Federico, F., additional, Scoditti, U., additional, Brusaferri, F., additional, Grassa, C., additional, Specchio, L., additional, Bongioanni, M. R., additional, Sparaco, M., additional, Zampolini, M., additional, Greco, G., additional, Colombo, R., additional, Passarella, B., additional, Adami, A., additional, Consoli, D., additional, and Toni, D., additional

Published
2013
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17. Clinical variability in Becker muscular dystrophy Genetic, biochemical and immunohistochemical correlates

Author

Comi, G. P., primary, Prelle, A., additional, Bresolin, N., additional, Moggio, M., additional, Bardoni, A., additional, Gallanti, A., additional, Vita, G., additional, Toscano, A., additional, Ferro, M. T., additional, Bordoni, A., additional, Fortunato, F., additional, Ciscato, P., additional, Felisari, G., additional, Tedeschi, S., additional, Castelli, E., additional, Garghentino, R., additional, Turconi, A., additional, Fraschini, P., additional, Marchi, E., additional, Negretto, G. G., additional, Adobbati, L., additional, Meola, G., additional, Tonin, P., additional, Papadimitriou, A., additional, and Scarlato, G., additional

Published
1994
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23. Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA project

Author

Fabrizio Piazza, Paolo Vitali, Silvia Lanfranconi, Marcella Catania, Carlo Ferrarese, Alessandra Erbetta, Cristina Motto, Luisa Chiapparini, M. Gasparini, Simona Sacco, Gregoire Boulouis, G. Tremolada, J. C. Di Francesco, Eugenio Parati, Emma Scelzo, Andrea Morotti, Marialuisa Zedde, Paola Caroppo, G. Di Fede, Giorgio Giaccone, Andreas Charidimou, Francesca Tinelli, M. Di Girolamo, Laura Obici, Laura Gatti, L. Adobbati, Michelangelo Mancuso, M. Godani, Davide Pareyson, Stefania Bianchi-Marzoli, Leonardo Pantoni, Anna Bersano, Bersano, A, Scelzo, E, Pantoni, L, Morotti, A, Erbetta, A, Chiapparini, L, Vitali, P, Giaccone, G, Caroppo, P, Catania, M, Obici, L, Di Fede, G, Gatti, L, Tinelli, F, Di Francesco, J, Piazza, F, Ferrarese, C, Gasparini, M, Adobbati, L, Bianchi-Marzoli, S, Tremolada, G, Sacco, S, Mancuso, M, Zedde, M, Godani, M, Lanfranconi, S, Pareyson, D, Di Girolamo, M, Motto, C, Charidimou, A, Boulouis, G, and Parati, E

Subjects
Cortical superficial siderosis, medicine.medical_specialty, Neurology, Neuroimaging, Dermatology, Disease, MED/46 - SCIENZE TECNICHE DI MEDICINA DI LABORATORIO, Angiopathy, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Biomarkers, Cerebral amyloid angiopathy, Dementia, Intracerebral hemorrhage, Microbleeds, Small vessel disease, medicine, Humans, 030212 general & internal medicine, Cognitive decline, Intensive care medicine, Aged, Cerebral Hemorrhage, business.industry, Cerebral Amyloid Angiopathy, Biomarkers, Dementia, Intracerebral hemorrhage, Neuroimaging, Microbleeds, Cortical superficial siderosis, Small vessel disease, General Medicine, medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, Phenotype, Italy, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study
Abstract

Cerebral amyloid angiopathy (CAA) is one of the major types of cerebral small vessel disease, and a leading cause of spontaneous intracerebral hemorrhage and cognitive decline in elderly patients. Although increasingly detected, a number of aspects including the pathophysiology, the clinical and neuroradiological phenotype, and the disease course are still under investigation. The incomplete knowledge of the disease limits the implementation of evidence-based guidelines on patient's clinical management and the development of treatments able to prevent or reduce disease progression. The SENECA (SEarchiNg biomarkErs of Cerebral Angiopathy) project is the first Italian multicenter cohort study aimed at better defining the disease natural history and identifying clinical and neuroradiological markers of disease progression. By a multidisciplinary approach and the collection of a large and well-phenotyped series and biorepository of CAA patients, the study is ultimately expected to improve the diagnosis and the knowledge of CAA pathophysiological mechanisms.

Published
2020

24. Impact of obstructive sleep apnea on cardiac organ damage in patients with acute ischemic stroke

Author

Gianfranco Parati, Barbara Corra, Andrea Faini, Davide Mariani, Carolina Lombardi, Vincenzo Silani, L. Adobbati, Davide Sangalli, Giovanna Branzi, Paola Mattaliano, Mattaliano, P, Lombardi, C, Sangalli, D, Faini, A, Corrà, B, Adobbati, L, Branzi, G, Mariani, D, Silani, V, and Parati, G

Subjects
Male, medicine.medical_specialty, arterial hypertension, Physiology, Polysomnography, 030204 cardiovascular system & hematology, Left ventricular hypertrophy, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, cardiac organ damage, Internal medicine, Internal Medicine, medicine, Left atrial enlargement, Humans, echocardiography, cardiovascular diseases, Interventricular septum, Stroke, obstructive sleep apnea, Sleep Apnea, Obstructive, Ejection fraction, business.industry, Sleep apnea, Heart, medicine.disease, stroke, nervous system diseases, respiratory tract diseases, left ventricular hypertrophy, Obstructive sleep apnea, left atrial enlargement, medicine.anatomical_structure, Ventricle, Cardiology, Female, Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery
Abstract

Background and purpose: Both obstructive sleep apnea (OSA) and cardiac organ damage have a crucial role in acute ischemic stroke. Our aim is to explore the relationship between OSA and cardiac organ damage in acute stroke patients. Methods: A total of 130 consecutive patients with acute ischemic stroke were enrolled. Patients underwent full multichannel 24-h polysomnography for evaluation of OSA and echocardiography to evaluate left ventricle (LV) mass index (LV mass/BSA, LV mass/height 2.7), thickness of interventricular septum (IVS) and posterior wall (LVPW), LV ejection fraction and left atrium enlargement. Information on occurrence of arterial hypertension and its treatment before stroke was obtained from patients' history. Results: 61.9% (70) of patients, mostly men (67.1%), with acute stroke had OSA (AHI > 10). Patients with acute stroke and OSA showed a significant increase (P < 0.05) of LV mass index, IVS and LVPW thickness and a significant left atrial enlargement as compared with patients without OSA. LV ejection fraction was not significantly different in stroke patients with and without OSA and was within normal limits. No relationship was found among cardiac alterations, occurrence of OSA and history of hypertension. Conclusion: Acute stroke patients with OSA had higher LV mass and showed greater left atrial enlargement than patients without OSA. This study confirms the high prevalence of OSA in stroke patients, suggesting also an association between OSA and cardiac target organ damage. Our finding of structural LV abnormalities in acute stroke patients with OSA suggests a potential role of OSA as contributing factor in determining both cerebrovascular and cardiac damage, even in absence of clear link with a history of blood pressure elevation.

Published
2018

25. The role of clinical and neuroimaging features in the diagnosis of CADASIL

Author

Bersano, Anna, Bedini, Gloria, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, Corato, Manuel, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, Mazzucchelli, Franca, Guidotti, Mario, Riva, Maurizio, Iurlaro, Simona, Maria, Bianca Bordo, Braga, Massimiliano, Meola, Giovanni, Carpo, Marinella, Camerlingo, Massimo, Borutti, Giuseppina, Delodovici, Marialuisa, Verrengia, Elena Pinuccia, Tancredi, Lucia, Terruzzi, Alessandro, Magoni, Mauro, Del Zotto, Elisabetta, Bassi, Pietro, Lattuada, Patrizia, Ballabio, Elena, Gambaro, Paola, Lanfranconi, Sivia, Corrà, Barbara, Canavero, Isabella, Arbustini, Eloisa, Grasso, Maurizia, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario, Merlini, Giampaolo, Obici, Laura, Bassi, Maria Teresa, Tagliavini, Fabrizio, Ginsbach, Caspar Grond, Bersano, Anna, Bedini, Gloria, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, Corato, Manuel, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia, Mazzucchelli, Franca, Guidotti, Mario, Riva, Maurizio, Iurlaro, Simona, Maria, Bianca Bordo, Braga, Massimiliano, Meola, Giovanni, Carpo, Marinella, Camerlingo, Massimo, Borutti, Giuseppina, Delodovici, Marialuisa, Verrengia, Elena Pinuccia, Tancredi, Lucia, Terruzzi, Alessandro, Magoni, Mauro, Del Zotto, Elisabetta, Bassi, Pietro, Lattuada, Patrizia, Ballabio, Elena, Gambaro, Paola, Lanfranconi, Sivia, Corrà, Barbara, Canavero, Isabella, Arbustini, Eloisa, Grasso, Maurizia, Comi, Giacomo Pietro, Corti, Stefania, Ronchi, Dario, Merlini, Giampaolo, Obici, Laura, Bassi, Maria Teresa, Tagliavini, Fabrizio, Ginsbach, Caspar Grond, Bersano, A, Bedini, G, Markus, H, Vitali, P, Colli-Tibaldi, E, Taroni, F, Gellera, C, Baratta, S, Mosca, L, Carrera, P, Ferrari, M, Cereda, C, Grieco, G, Lanfranconi, S, Mazucchelli, F, Zarcone, D, De Lodovici, M, Bono, G, Boncoraglio, G, Parati, E, Calloni, M, Perrone, P, Bordo, B, Motto, C, Agostoni, E, Pezzini, A, Padovani, A, Micieli, G, Cavallini, A, Molini, G, Sasanelli, F, Sessa, M, Comi, G, Checcarelli, N, Carmerlingo, M, Corato, M, Marcheselli, S, Fusi, L, Grampa, G, Uccellini, D, Beretta, S, Ferrarese, C, Incorvaia, B, Tadeo, C, Adobbati, L, Silani, V, Faragò, G, Trobia, N, Grond-Ginsbach, C, Candelise, L, Mazzucchelli, F, Guidotti, M, Riva, M, Iurlaro, S, Maria, B, Braga, M, Meola, G, Carpo, M, Camerlingo, M, Borutti, G, Delodovici, M, Verrengia, E, Tancredi, L, Terruzzi, A, Magoni, M, Del Zotto, E, Bassi, P, Lattuada, P, Ballabio, E, Gambaro, P, Corrà, B, Canavero, I, Arbustini, E, Grasso, M, Corti, S, Ronchi, D, Merlini, G, Obici, L, Bassi, M, Tagliavini, F, Ginsbach, C, Markus, Hugh [0000-0002-9794-5996], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Brain hemorrhage, medicine.medical_specialty, Neurology, White matter lesion, Monogenic disorder, CADASIL, Neuroimaging, Gene mutation, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Diagnosis, Medicine, Dementia, Humans, cardiovascular diseases, Prospective Studies, Receptor, Notch3, Neuroradiology, Aged, Cerebral Hemorrhage, Stroke genetics, Monogenic disorders, business.industry, Brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, White Matter, Prospective Studie, Ischemic Attack, Transient, Stroke genetic, Stroke, Lacunar, Female, Neurology (clinical), Atrophy, business, Neuroscience, NOTCH3 gene, 030217 neurology & neurosurgery, Diagnosi, Human
Abstract

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. METHODS: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities. RESULTS: 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity. CONCLUSIONS: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield., The Lombardia GENS project has received funding from the Regione Lombardia Government as a Research Independent Project (DGR n°VIII/006128-12/12/2007). Lombardia GENS is an investigator-driven, academic, non-profit consortium and is publicly funded. Hugh Markus is supported by an NIHR Senior Investigator award and his work is supported by the Cambridge University Hospitals NIHR Biomedical Research Centre

Published
2018

26. The THRombolysis and STatins (THRaST) study

Author

Giampiero Galletti, Rinaldo M. Colombo, Vincenzo Di Lazzaro, Maria Concetta Altavista, Umberto Scoditti, Daniele Orrico, Maria Sessa, Gaetano Procaccianti, Massimo Del Sette, Manuel Cappellari, Fabio Brusaferri, Giuseppe Moretto, Giuseppe Martini, Gabriele Greco, Serena Monaco, Alessandro Adami, Andrea Zini, Fabio Chiodo-Grandi, Claudio Grassa, Paolo Bovi, Maria Guarino, Domenico Consoli, Anna Cavallini, Maria Vittoria Calloni, Mauro Zampolini, Tiziana Tassinari, Simone Beretta, Francesco Federico, Danilo Toni, Luigi Maria Specchio, Maurizio Paciaroni, Maurizia Rasura, Carlo Gandolfo, Simona Marcheselli, Armando Mancini, Alessandro Pezzini, Marco Sparaco, Bruno Passarella, Maurizio Melis, Giorgio Silvestrelli, Rossella Sciolla, Mauro Furlan, Giovanni Orlandi, L. Adobbati, Luigi Bettoni, Patrizia Nencini, Maria Roberta Bongioanni, Cappellari, M, Bovi, P, Moretto, G, Zini, A, Nencini, P, Sessa, M, Furlan, M, Pezzini, A, Orlandi, G, Paciaroni, M, Tassinari, T, Procaccianti, G, Di Lazzaro, V, Bettoni, L, Gandolfo, C, Silvestrelli, G, Rasura, M, Martini, G, Melis, M, Calloni, M, Chiodo Grandi, F, Beretta, S, Guarino, M, Altavista, M, Marcheselli, S, Galletti, G, Adobbati, L, Del Sette, M, Mancini, A, Orrico, D, Monaco, S, Cavallini, A, Sciolla, R, Federico, F, Scoditti, U, Brusaferri, F, Grassa, C, Specchio, L, Bongioanni, M, Sparaco, M, Zampolini, M, Greco, G, Colombo, R, Passarella, B, Adami, A, Consoli, D, and Toni, D

Subjects
Male, Multivariate analysis, Time Factors, medicine.medical_treatment, Severity of Illness Index, non presente, Retrospective Studie, Modified Rankin Scale, Outcome Assessment, Health Care, 80 and over, Prospective Studies, Multivariate Analysi, Stroke, Aged, 80 and over, Neurologic Examination, Fibrinolytic Agent, Thrombolysis, Middle Aged, stroke, X-Ray Computed, Tissue Plasminogen Activator, Cardiology, Female, Human, medicine.medical_specialty, thrombolysis, Tomography Scanners, X-Ray Computed, Logistic Model, Time Factor, Article, Outcome Assessment (Health Care), Arts and Humanities (miscellaneous), Fibrinolytic Agents, Internal medicine, medicine, Humans, cardiovascular diseases, Aged, Retrospective Studies, Intracerebral hemorrhage, Tomography Scanners, business.industry, Odds ratio, medicine.disease, Confidence interval, Surgery, Prospective Studie, Logistic Models, Multicenter study, Multivariate Analysis, Hydroxymethylglutaryl-CoA Reductase Inhibitor, Neurology (clinical), Hydroxymethylglutaryl-CoA Reductase Inhibitors, business
Abstract

Objective: To assess the impact on stroke outcome of statin use in the acute phase after IV thrombolysis. Methods: Multicenter study on prospectively collected data of 2,072 stroke patients treated with IV thrombolysis. Outcome measures of efficacy were neurologic improvement (NIH Stroke Scale [NIHSS] ≤ 4 points from baseline or NIHSS = 0) and major neurologic improvement (NIHSS ≤ 8 points from baseline or NIHSS = 0) at 7 days and favorable (modified Rankin Scale [mRS] ≤ 2) and excellent functional outcome (mRS ≤ 1) at 3 months. Outcome measures of safety were 7-day neurologic deterioration (NIHSS ≥ 4 points from baseline or death), symptomatic intracerebral hemorrhage type 2 with NIHSS ≥ 4 points from baseline or death within 36 hours, and 3-month death. Results: Adjusted multivariate analysis showed that statin use in the acute phase was associated with neurologic improvement (odds ratio [OR] 1.68, 95% confidence interval [CI] 1.26-2.25; p < 0.001), major neurologic improvement (OR 1.43, 95% CI 1.11-1.85; p = 0.006), favorable functional outcome (OR 1.63, 95% CI 1.18-2.26; p = 0.003), and a reduced risk of neurologic deterioration (OR: 0.31, 95% CI 0.19-0.53; p < 0.001) and death (OR 0.48, 95% CI 0.28-0.82; p = 0.007). Conclusion: Statin use in the acute phase of stroke after IV thrombolysis may positively influence short- and long-term outcome. © 2013 American Academy of Neurology.

Published
2013

27. Coexistence of Amyotrophic Lateral Sclerosis and Alzheimer's Disease: Case Report and Review of the Literature.

Author

Verde F, Aiello EN, Adobbati L, Poletti B, Solca F, Tiloca C, Sangalli D, Maranzano A, Muscio C, Ratti A, Zago S, Ticozzi N, Frisoni GB, and Silani V

Subjects
Humans, Female, Male, Brain diagnostic imaging, Amyotrophic Lateral Sclerosis complications, Amyotrophic Lateral Sclerosis diagnosis, Amyotrophic Lateral Sclerosis genetics, Alzheimer Disease diagnosis, Alzheimer Disease diagnostic imaging, Cognitive Dysfunction complications, Frontotemporal Dementia complications, Frontotemporal Dementia diagnostic imaging, Frontotemporal Dementia genetics
Abstract

We describe a case of amyotrophic lateral sclerosis (ALS) associated with Alzheimer's disease (AD) and review the literature about the coexistence of the two entities, highlighting the following: mean age at onset is 63.8 years, with slight female predominance; ALS tends to manifest after cognitive impairment and often begins in the bulbar region; average disease duration is 3 years; cognitive phenotype is mostly amnestic; the pattern of brain involvement is, in most cases, consistent with AD. Our case and the reviewed ones suggest that patients with ALS and dementia lacking unequivocal features of FTD should undergo additional examinations in order to recognize AD.

Published
2023
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28. Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA project.

Author

Bersano A, Scelzo E, Pantoni L, Morotti A, Erbetta A, Chiapparini L, Vitali P, Giaccone G, Caroppo P, Catania M, Obici L, Di Fede G, Gatti L, Tinelli F, Di Francesco JC, Piazza F, Ferrarese C, Gasparini M, Adobbati L, Bianchi-Marzoli S, Tremolada G, Sacco S, Mancuso M, Zedde ML, Godani M, Lanfranconi S, Pareyson D, Di Girolamo M, Motto C, Charidimou A, Boulouis G, and Parati EA

Subjects
Aged, Cerebral Hemorrhage, Cohort Studies, Humans, Italy, Magnetic Resonance Imaging, Phenotype, Cerebral Amyloid Angiopathy complications, Cerebral Amyloid Angiopathy diagnostic imaging, Cerebral Amyloid Angiopathy therapy
Abstract

Cerebral amyloid angiopathy (CAA) is one of the major types of cerebral small vessel disease, and a leading cause of spontaneous intracerebral hemorrhage and cognitive decline in elderly patients. Although increasingly detected, a number of aspects including the pathophysiology, the clinical and neuroradiological phenotype, and the disease course are still under investigation. The incomplete knowledge of the disease limits the implementation of evidence-based guidelines on patient's clinical management and the development of treatments able to prevent or reduce disease progression. The SENECA (SEarchiNg biomarkErs of Cerebral Angiopathy) project is the first Italian multicenter cohort study aimed at better defining the disease natural history and identifying clinical and neuroradiological markers of disease progression. By a multidisciplinary approach and the collection of a large and well-phenotyped series and biorepository of CAA patients, the study is ultimately expected to improve the diagnosis and the knowledge of CAA pathophysiological mechanisms.

Published
2020
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29. The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Author

Bersano A, Bedini G, Markus HS, Vitali P, Colli-Tibaldi E, Taroni F, Gellera C, Baratta S, Mosca L, Carrera P, Ferrari M, Cereda C, Grieco G, Lanfranconi S, Mazucchelli F, Zarcone D, De Lodovici ML, Bono G, Boncoraglio GB, Parati EA, Calloni MV, Perrone P, Bordo BM, Motto C, Agostoni E, Pezzini A, Padovani A, Micieli G, Cavallini A, Molini G, Sasanelli F, Sessa M, Comi G, Checcarelli N, Carmerlingo M, Corato M, Marcheselli S, Fusi L, Grampa G, Uccellini D, Beretta S, Ferrarese C, Incorvaia B, Tadeo CS, Adobbati L, Silani V, Faragò G, Trobia N, Grond-Ginsbach C, and Candelise L

Subjects
Adult, Aged, Atrophy, CADASIL genetics, CADASIL physiopathology, Cerebral Hemorrhage diagnosis, Cerebral Hemorrhage genetics, Cerebral Hemorrhage physiopathology, Female, Humans, Ischemic Attack, Transient diagnosis, Ischemic Attack, Transient genetics, Ischemic Attack, Transient physiopathology, Magnetic Resonance Imaging, Male, Middle Aged, Prospective Studies, Stroke, Lacunar diagnosis, Stroke, Lacunar genetics, Stroke, Lacunar physiopathology, White Matter diagnostic imaging, Brain diagnostic imaging, CADASIL diagnosis, Neuroimaging, Receptor, Notch3 genetics
Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL., Methods: Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities., Results: 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity., Conclusions: A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield.

Published
2018
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30. Impact of obstructive sleep apnea on cardiac organ damage in patients with acute ischemic stroke.

Author

Mattaliano P, Lombardi C, Sangalli D, Faini A, Corrà B, Adobbati L, Branzi G, Mariani D, Silani V, and Parati G

Subjects
Female, Humans, Male, Polysomnography, Heart physiopathology, Sleep Apnea, Obstructive complications, Sleep Apnea, Obstructive physiopathology, Stroke complications, Stroke physiopathology
Abstract

Background and Purpose: Both obstructive sleep apnea (OSA) and cardiac organ damage have a crucial role in acute ischemic stroke. Our aim is to explore the relationship between OSA and cardiac organ damage in acute stroke patients., Methods: A total of 130 consecutive patients with acute ischemic stroke were enrolled. Patients underwent full multichannel 24-h polysomnography for evaluation of OSA and echocardiography to evaluate left ventricle (LV) mass index (LV mass/BSA, LV mass/height), thickness of interventricular septum (IVS) and posterior wall (LVPW), LV ejection fraction and left atrium enlargement. Information on occurrence of arterial hypertension and its treatment before stroke was obtained from patients' history., Results: 61.9% (70) of patients, mostly men (67.1%), with acute stroke had OSA (AHI > 10). Patients with acute stroke and OSA showed a significant increase (P < 0.05) of LV mass index, IVS and LVPW thickness and a significant left atrial enlargement as compared with patients without OSA. LV ejection fraction was not significantly different in stroke patients with and without OSA and was within normal limits. No relationship was found among cardiac alterations, occurrence of OSA and history of hypertension., Conclusion: Acute stroke patients with OSA had higher LV mass and showed greater left atrial enlargement than patients without OSA. This study confirms the high prevalence of OSA in stroke patients, suggesting also an association between OSA and cardiac target organ damage. Our finding of structural LV abnormalities in acute stroke patients with OSA suggests a potential role of OSA as contributing factor in determining both cerebrovascular and cardiac damage, even in absence of clear link with a history of blood pressure elevation.

Published
2018
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31. Carotid artery stenting in patients with acute coronary syndrome: a possible primary therapy for symptomatic carotid stenosis.

Author

Casana R, Halliday A, Bianchi P, Fresa E, Silani V, Parati G, Blengino S, Cireni L, Adobbati L, Calvillo L, and Tolva VS

Subjects
Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Acute Coronary Syndrome surgery, Angioplasty, Balloon, Coronary, Carotid Stenosis surgery, Postoperative Complications surgery, Stents
Abstract

Purpose: To report the results of carotid artery stenting (CAS) in symptomatic patients (stroke/transient ischemic attack) after recent percutaneous transluminal coronary angioplasty (PTCA) for acute coronary syndrome (ACS)., Methods: Between January 2009 and July 2011, 28 consecutive patients (18 women; mean age 66 years, range 42-82) underwent protected CAS for symptomatic carotid stenosis following recent PTCA that included bare or drug-eluting stents requiring uninterrupted dual antiplatelet therapy. Primary technical success, neurological complications, major adverse cardiovascular events, and death were evaluated at 30 days and over midterm follow-up., Results: Technical success was 96%; 1 patient suffered a nonfatal major stroke (3.5% 30-day stroke rate) during the procedure. During a median 21.6-month follow-up, 4 (14%) patients died of myocardial infarction (all diabetic smokers with ejection fractions <40%), but there were no new neurological events. Estimated survival was 89.3% at 2 years. Further coronary interventions were performed in 2 diabetic patients with a body mass index >34 kg/m(2)., Conclusion: This preliminary experience demonstrated that CAS is a reasonable, safe, and effective treatment for patients with symptomatic carotid artery stenosis who were recently treated with coronary stents requiring uninterrupted dual antiplatelet therapy.

Published
2013
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32. NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Author

Mosca L, Marazzi R, Ciccone A, Santilli I, Bersano A, Sansone V, Grosso E, Mandrile G, Giachino DF, Adobbati L, Corengia E, Agostoni E, Fiumani A, Gallone S, Scarpini E, Guidotti M, Sterzi R, Ajmone C, Marocchi A, and Penco S

Subjects
Adult, Aged, Amino Acid Substitution genetics, CADASIL metabolism, Female, Genetic Predisposition to Disease epidemiology, Genetic Variation genetics, Humans, Italy epidemiology, Male, Middle Aged, Protein Structure, Tertiary genetics, Receptor, Notch3, Receptors, Notch deficiency, Young Adult, CADASIL diagnosis, CADASIL genetics, Genetic Predisposition to Disease genetics, Point Mutation genetics, Receptors, Notch genetics
Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. A cluster of mutations around exons 3 and 4 was originally reported. Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic counselling and testing of relatives at risk is critical in mutation carriers., Methods: Mutation analysis of the NOTCH3 gene was performed through direct sequencing in 140 patients with clinical suspicion of CADASIL. Patients underwent genetic counselling pre and post testing. The 2-23 exons containing all EGF-like domains were screened., Results: 14 familial forms of the disease have been identified with 14 different causative mutations in exons 2, 3, 4, 5, 7, 10, 14, 19, 20 and 22 of the NOTCH3 gene; no pathogenetic mutations have been identified in exons 6 and 8; several genetic variations both in coding as well as in intronic regions were identified too., Conclusions: Our data confirm the importance of screening the whole EGF-like domains region of NOTCH3 gene for the molecular diagnosis of CADASIL among the Italian population too. Moreover genetic variants different from loss or gain of a cysteine residue are identified and presented., (Copyright © 2011 Elsevier B.V. All rights reserved.)

Published
2011
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33. Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation.

Author

Sciacco M, Prelle A, Comi GP, Napoli L, Battistel A, Bresolin N, Tancredi L, Lamperti C, Bordoni A, Fagiolari G, Ciscato P, Chiveri L, Perini MP, Fortunato F, Adobbati L, Messina S, Toscano A, Martinelli-Boneschi F, Papadimitriou A, Scarlato G, and Moggio M

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Brain diagnostic imaging, Brain pathology, Child, Child, Preschool, Creatine Kinase blood, Electroencephalography, Electromyography, Female, Heart physiopathology, Humans, Infant, Lactic Acid blood, Magnetic Resonance Imaging, Male, Middle Aged, Mitochondrial Diseases diagnosis, Muscle, Skeletal pathology, Muscle, Skeletal physiopathology, Phenotype, Retrospective Studies, Tomography, X-Ray Computed, DNA, Mitochondrial genetics, Gene Deletion, Mitochondrial Diseases genetics, Mitochondrial Diseases physiopathology
Abstract

Mitochondrial disorders are human genetic diseases with extremely variable clinical and genetic features. To better define them, we made a genotype-phenotype correlation in a series of 207 affected patients, and we examined most of them with six laboratory examinations (serum CK and basal lactate levels, EMG, cardiac and EEG studies, neuroradiology). We found that, depending on the genetic abnormality, hyperckemia occurs most often with either chronic progressive external ophthalmoplegia (CPEO) and ptosis or with limb weakness. Myopathic EMGs are more common than limb weakness, except in patients with A8344G mutations. Peripheral neuropathy, when present, is always axonal. About 80% of patients with A3243G and A8344G mutations have high basal lactate levels, whereas pure CPEO is never associated with increased lactate levels. Cardiac abnormalities mostly consist of conduction defects. Abnormalities on CT or MRI of the brain are relatively common in A3243G mutations independently of the clinical phenotype. Patients with multiple mtDNA deletions are somehow "protected" against the development of abnormalities with any of the tests. We conclude that, despite the phenotypic heterogeneity of mitochondrial disorders, correlation of clinical features and laboratory findings may give the clinician important clues to the genetic defect, allowing earlier diagnosis and counselling.

Published
2001
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34. Critically ill patients: immunological evidence of inflammation in muscle biopsy.

Author

Bazzi P, Moggio M, Prelle A, Sciacco M, Messina S, Barbieri S, Tonin P, Tomelleri G, Battistel A, Adobbati L, Checcarelli N, Veschi G, and Scarlato G

Subjects
Adult, Aged, Biopsy, Female, Histocytochemistry, Humans, Immunohistochemistry, Male, Microscopy, Electron, Middle Aged, Necrosis, Critical Illness, Inflammation pathology, Muscular Diseases pathology
Abstract

Aim and Method: To verify whether muscle necrosis in critically ill patients could be due to an inflammatory process, we tested muscle biopsies from five intensive care patients with different inflammation-specific immunocytochemical markers (antibodies anti-class I major histocompatibility complex products (class I MHCP or HLA I), membrane attack complex (MAC), T lymphocytes helper-inducer (CD4), cytotoxic (CD8) and pan-B-lymphocytes)., Results: In three patients muscle biopsy showed class I MHCP positivity on the surface membrane of several groups of fibres, mainly perifascicular, and scattered microvascular deposits of MAC. In the other two patients muscle biopsy did not show class I MHCP and MAC positivity., Conclusion: Our results suggest that inflammation may be a component of muscle damage in some critically ill patients.

Published
1999

35. Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues.

Author

Bresolin N, Moggio M, Bet L, Gallanti A, Prelle A, Nobile-Orazio E, Adobbati L, Ferrante C, Pellegrini G, and Scarlato G

Subjects
Adult, Brain enzymology, Coenzymes, Female, Humans, Kearns-Sayre Syndrome pathology, Kidney enzymology, Liver enzymology, Muscles pathology, Myocardium enzymology, Ubiquinone analogs & derivatives, Ubiquinone metabolism, Electron Transport Complex IV metabolism, Kearns-Sayre Syndrome enzymology, Muscles enzymology, Ophthalmoplegia enzymology
Abstract

We report biochemical, immunological, and morphological findings in a patient with fatal Kearns-Sayre syndrome. Histochemical and biochemical findings from muscle biopsy specimens obtained 7 years apart documented the disease's evolution from a mild mitochondrial disorder affecting a small proportion of muscle fibers to a severe disorder affecting a large proportion of muscle fibers. Cytochrome c oxidase activity in muscle declined profoundly as the disease progressed, although the level of enzyme protein was normal, as shown by immunochemical techniques. Other organs were severely affected by the disease. Examination of postmortem tissue showed spongiosis in the frontal cortex, diffuse loss of Purkinje cells in the cerebellum, liver steatosis, and heart fibrosis with mitochondrial abnormalities. Cytochrome c oxidase activity was only slightly reduced in these organs.

Published
1987
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36. Cytochrome c oxidase during human fetal development.

Author

Moggio M, Bresolin N, Scarpini E, Adobbati L, Prelle A, Gallanti A, Bet L, Fortunato F, Pellegrini G, and Scarlato G

Subjects
Gestational Age, Heart embryology, Humans, Kidney metabolism, Muscles embryology, Electron Transport Complex IV metabolism, Fetus enzymology, Kidney enzymology, Muscles enzymology, Myocardium enzymology
Abstract

Histochemical, biochemical and immunologic analysis of cytochrome c oxidase (COX) in skeletal muscle, heart and kidney during human fetal development was performed. COX histochemical activity was present only in few muscle fibres from the 11th to the 20th week of gestation. At the same developmental stage intrafusal muscle fibres, heart and kidney already showed strong activity. At the 28th week of gestation muscular COX activity was present in about 90% of the fibres. Tissue biochemical analysis confirmed these histochemical findings. Histochemical and biochemical findings compared to the immunocytochemical results and ELISA indicate that COX activity parallels the progressive synthesis of the enzyme in each tissue.

Published
1989
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