6 research outputs found

    Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

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    BACKGROUND AND PURPOSE: Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease METHODS: We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project. Patients were defined as probable when presenting with stroke or transient ischemic attack of unknown etiopathogenic causes, or in the presence of <3 conventional vascular risk factors or young age at onset, or positive familial history or of specific clinical features. Patients fulfilling diagnostic algorithms specific for each monogenic disease (suspected) were referred for genetic analysis. RESULTS: In 209 patients (57.4±14.7 years), the application of the disease-specific algorithm identified 227 patients with possible monogenic disease. Genetic testing identified pathogenic mutations in 7% of these cases. Familial history of stroke was the only significant specific feature that distinguished mutated patients from nonmutated ones. The presence of cerebrovascular risk factors did not exclude a genetic disease. CONCLUSIONS: In patients prescreened using a clinical algorithm for monogenic disorders, we identified monogenic causes of events in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series

    Screening for Fabry disease in patients with ischaemic stroke at young age: the Italian Project on Stroke in Young Adults

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    reserved85nomixedPoli, L.; Zedde, Marialuisa; Zini, Andrea; Del Sette, Massimo; Lodigiani, Corrado; Spalloni, Alessandra; Di Lisi, Filomena; Toriello, Antonella; Piras, Valeria; Stilo, Cesare; Tomelleri, Giampaolo; Tancredi, Lucia; Paciaroni, Maurizio; Silvestrelli, Giorgio; Adami, Alessandro; Costa, P.; Morotti, A.; De Giuli, V.; Caria, F.; Gamba, Massimo; Malferrari, Giovanni; Simone, Anna Maria; Musolino, Rossella; Giorli, Elisa; Banfi, Elena; Marcheselli, Simona; Rasura, Maurizia; Pugliese, Nicola; Melis, Maurizio; Bovi, Paolo; Padovani, A.; Burlina, A.; Pezzini, A; Del Zotto, Elisabetta; Giossi, Alessia; Sessa, Maria; Gilberti, Nicola; Magoni, Mauro; Ferrazzi, Paola; Librè, Luca; Rota, Lidia Luciana; Patella, Rosalba; Calabrò, Rocco Salvatore; Bramanti, Placido; La Spina, Paolo; Finocchi, Cinzia; Balestrino, Maurizio; Bruno, Chiara; Massucco, Davide; Gandolfo, Carlo; Traverso, Elisabetta; Delodovici, Maria Luisa; Verrengia, Elena Pinuccia; Carimati, Federico; Bono, Giorgio; Dell'Acqua, Maria Luisa; Bigliardi, Guido; Vandelli, Laura; Nichelli, Paolo Frigio; Carletti, Monica; Cerrato, Paolo; Iacoviello, Licia; Di Castelnuovo, Augusto; de Gaetano, Giovanni; Grassi, Mario; Locatelli, Giampiero; Caso, Valeria; D'Amore, Cataldo; Agnelli, Giancarlo; Checcarelli, Nicoletta; Guidotti, Mario; Arnaboldi, Marco; Giacalone, Giacomo; Zanoli, Elisa; Cavallini, Anna; Persico, Alessandra; Micieli, Giuseppe; Chiti, Alberto; Orlandi, Giovanni; Marchi, Piernicola; Lanari, Alessia; Ciccone, Alfonso; Cucurachi, Laura; Bonifati, Marco Domenico; Marcello, NorinaPoli, L.; Zedde, Marialuisa; Zini, Andrea; Del Sette, Massimo; Lodigiani, Corrado; Spalloni, Alessandra; Di Lisi, Filomena; Toriello, Antonella; Piras, Valeria; Stilo, Cesare; Tomelleri, Giampaolo; Tancredi, Lucia; Paciaroni, Maurizio; Silvestrelli, Giorgio; Adami, Alessandro; Costa, P.; Morotti, A.; De Giuli, V.; Caria, F.; Gamba, Massimo; Malferrari, Giovanni; Simone, Anna Maria; Musolino, Rossella; Giorli, Elisa; Banfi, Elena; Marcheselli, Simona; Rasura, Maurizia; Pugliese, Nicola; Melis, Maurizio; Bovi, Paolo; Padovani, A.; Burlina, A.; Pezzini, A; Del Zotto, Elisabetta; Giossi, Alessia; Sessa, Maria; Gilberti, Nicola; Magoni, Mauro; Ferrazzi, Paola; Librè, Luca; Rota, Lidia Luciana; Patella, Rosalba; Calabrò, Rocco Salvatore; Bramanti, Placido; La Spina, Paolo; Finocchi, Cinzia; Balestrino, Maurizio; Bruno, Chiara; Massucco, Davide; Gandolfo, Carlo; Traverso, Elisabetta; Delodovici, Maria Luisa; Verrengia, Elena Pinuccia; Carimati, Federico; Bono, Giorgio; Dell'Acqua, Maria Luisa; Bigliardi, Guido; Vandelli, Laura; Nichelli, Paolo Frigio; Carletti, Monica; Cerrato, Paolo; Iacoviello, Licia; Di Castelnuovo, Augusto; de Gaetano, Giovanni; Grassi, Mario; Locatelli, Giampiero; Caso, Valeria; D'Amore, Cataldo; Agnelli, Giancarlo; Checcarelli, Nicoletta; Guidotti, Mario; Arnaboldi, Marco; Giacalone, Giacomo; Zanoli, Elisa; Cavallini, Anna; Persico, Alessandra; Micieli, Giuseppe; Chiti, Alberto; Orlandi, Giovanni; Marchi, Piernicola; Lanari, Alessia; Ciccone, Alfonso; Cucurachi, Laura; Bonifati, Marco Domenico; Marcello, Norin

    Le normative e le politiche regionali per la partecipazione delle donne al mercato del lavoro (Regional Laws and Policies for the Participation of Women in the Labour Market)

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    SARS-CoV-2 serology after COVID-19 in multiple sclerosis: An international cohort study

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    Background: The MuSC-19 project is an Italian cohort study open to international partners that collects data on multiple sclerosis (MS) patients with COVID-19. During the second wave of the pandemic, serological tests became routinely available. Objective: To evaluate the seroprevalence of anti-SARS-CoV-2 antibodies according to the use of disease-modifying therapy (DMT) in a subset of patients included in the MuSC-19 data set who had undergone a serological test. Methods: We evaluated the association between positive serological test results and time elapsed since infection onset, age, sex, Expanded Disability Status Scale score, comorbidities and DMT exposure using a multivariable logistic model. Results: Data were collected from 423 patients (345 from Italy, 61 from Turkey and 17 from Brazil) with a serological test performed during follow-up. Overall, 325 out of 423 tested patients (76.8%) had a positive serological test. At multivariate analysis, therapy with anti-CD20 was significantly associated with a reduced probability of developing antibodies after COVID-19 (odds ratio (OR) = 0.20, p = 0.002). Conclusion: Patients with MS maintain the capacity to develop humoral immune response against SARS-COV-2, although to a lesser extent when treated with anti-CD20 drugs. Overall, our results are reassuring with respect to the possibility to achieve sufficient immunization with vaccination
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