77 results on '"Roberto Marconi"'
Search Results
2. Cerebellar cryptococcomas
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Carlo Manco, Nicola De Stefano, and Roberto Marconi
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Psychiatry and Mental health ,CSF analysis ,Cerebellar cryptococcomas ,MRI ,Neurology (clinical) ,Dermatology ,General Medicine - Published
- 2023
3. Appropriateness, safety, and effectiveness of 'drip and ship' teleconsultation model in Southeastern Tuscany: a feasibility study
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Vincenzo Groccia, Luca Marsili, Stefano Dami, Giuseppe Panzardi, Roberto Marconi, Sandra Bracco, Alfonso Cerase, Rossana Tassi, Teresa De Stefano, Marco Cirinei, Simone Gallerini, Massimo Gregorio, Sergio Pieri, Eleonora Innocenti, Elizabeth G. Keeling, Caterina Marotti, Mauro Zocchi, Mauro Breggia, Manuele Bartalucci, Giuseppe Martini, Stefania Galassi, Simone Geraci, C. Scarpini, and Katrin Plewnia
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Patient Transfer ,Telemedicine ,medicine.medical_specialty ,medicine.medical_treatment ,Dermatology ,Endoarterectomy ,Brain Ischemia ,03 medical and health sciences ,0302 clinical medicine ,Fibrinolytic Agents ,Modified Rankin Scale ,medicine ,Humans ,Thrombolytic Therapy ,030212 general & internal medicine ,Adverse effect ,Stroke ,Retrospective Studies ,Neuroradiology ,business.industry ,Remote Consultation ,Teleconsultation ,Mortality rate ,General Medicine ,Thrombolysis ,medicine.disease ,Drip-and-ship ,Psychiatry and Mental health ,Treatment Outcome ,Emergency medicine ,Feasibility Studies ,Neurology (clinical) ,Neurosurgery ,business ,030217 neurology & neurosurgery - Abstract
Teleconsultation is a consultation between two or more physicians about the diagnostic work-up and therapeutic strategy in the treatment of an individual case by means of modern telematics. ‘Drip-and-ship’ teleconsultation model consists of the transfer of patients, through telematics stroke networks, with large arteries occlusions from primary to comprehensive stroke centers equipped for endovascular therapy. We retrospectively investigated appropriateness, safety, and effectiveness of ‘drip-and-ship’ teleconsultation model in a rural area of Tuscany. Outcome measures were: door-to-ship time (including door-to-needle time), ratio of number treated/total sent patients, adverse events/mortality during transfer, and mortality and modified Rankin scale at 90 days. Analysis of non-treated patients was also done. Seventy-eight patients were included; 16/78 patients were sent for endovascular therapy alone, and 62/78 for “drip-and-ship”; 12 patients were not treated. Door-to-ship, and door-to-needle times (mean ± SD) were 105 ± 29.8 and 62.5 ± 37.5 min, respectively. The ratio number of treated/total sent patients was 0.85. At 90 days, the global mortality rate was 21%, and 40% of patients showed favorable outcome. The main cause of non-treatment was spontaneous recanalization. The high value for treated/total sent patients’ ratio underlines that “drip-and-ship” teleconsultation model is appropriate and effective, with a few untreated patients. The model is safe, without adverse events during transfer. Taken together, our outcomes are in line with the previous reports. “Drip-and-ship” teleconsultation model is safe and effective in rural areas, allowing good selections and rapid treatments for stroke patients, based on the transfer from the primary to the comprehensive stroke center.
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- 2020
4. Paraneoplastic movement disorders: phenomenology, diagnosis, and treatment
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Roberto Marconi, Simone Gallerini, Martina Chirra, Luca Marsili, Elizabeth G. Keeling, and Carlo Colosimo
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Pediatrics ,medicine.medical_specialty ,Movement Disorders ,Movement disorders ,Heterogeneous group ,business.industry ,Cancer ,030204 cardiovascular system & hematology ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,Rapid onset ,Internal Medicine ,medicine ,Humans ,030212 general & internal medicine ,medicine.symptom ,business ,Algorithms ,Paraneoplastic Syndromes, Nervous System - Abstract
Paraneoplastic syndromes include, by definition, any symptomatic and non-metastatic condition associated with a neoplasm. Paraneoplastic movement disorders are a heterogeneous group of syndromes encompassing both hyperkinetic and hypokinetic conditions, characterized by acute/sub-acute onset, rapidly progressive evolution, and multifocal localizations with several overlapping features. These movement disorders are immune-mediated, as shown by the rapid onset and by the presence of antineuronal antibodies in biological samples of patients, fundamental for the diagnosis. Antineuronal antibodies could be targeted against intracellular or neuronal surface antigens. Paraneoplastic movement disorders associated with anti-neuronal surface antigens antibodies respond more frequently to immunotherapy. The underlying tumors may be different, according to the clinical presentation, age, and gender of patients. Our search considered articles involving human subjects indexed in PubMed. Abstracts were independently reviewed for eligibility criteria by one author and validated by at least one additional author. In this review, we sought to critically reappraise the clinical features and the pathophysiological mechanisms of paraneoplastic movement disorders, focusing on diagnostic and therapeutic strategies. Our main aim is to make clinicians aware of paraneoplastic movement disorders, and to provide assistance in the early diagnosis and management of these rare but life-threatening conditions.
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- 2019
5. Outcome After Acute Ischemic Stroke Treatment During Covid-19 Outbreak in South-East Tuscany
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Simone Nocentini, Roberto Marconi, Carlo Domenichelli, Giulia Peppoloni, Rossana Tassi, Pietro Enea Lazzerini, Maurizio Acampa, Simone Gallerini, Valentina Peresso, Sandra Bracco, Giovanni Linoli, Francesca Guideri, Alessandra Cartocci, Giovanni Iannelli, Giuseppe Martini, and Stefano Dami
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medicine.medical_specialty ,thrombolysis ,Coronavirus disease 2019 (COVID-19) ,medicine.medical_treatment ,Brain Ischemia ,Modified Rankin Scale ,Pandemic ,medicine ,South east ,Humans ,Thrombolytic Therapy ,alteplase ,COVID-19 ,Ischemic stroke ,mechanical thrombolysis ,treatment outcome ,Acute ischemic stroke ,Pandemics ,Pharmacology ,business.industry ,SARS-CoV-2 ,Outbreak ,Hematology ,General Medicine ,Thrombolysis ,Stroke ,Emergency medicine ,Communicable Disease Control ,Molecular Medicine ,Cardiology and Cardiovascular Medicine ,business - Abstract
Background: During Covid-19 pandemic, the Italian National Healthcare Service has faced increasing pressure, especially in Northern Italy. Even in less-affected regions, such as Tuscany, the changes in the healthcare system to prevent Covid-19 spread resulted in difficulty in treating time-dependent disorders like ischemic stroke rapidly. Objective: The aim of our study was to assess the outcome after acute ischemic stroke treatments during the Covid-19 spread in comparison with a similar period of the previous year in Siena-Hospital (Hub center in the South-East Tuscany). Method: We enrolled all patients admitted to Siena-Hospital for ischemic stroke and submitted them to acute treatments (intravenous and/or mechanical thrombolysis) between February 21st and May 18th, 2020 (study group, n:38) and compared the results with ischemic strokes acutely treated in a similar period in 2019 (control group, n:39). The modified Rankin scale score was assessed at 90 days to evaluate a 3-month clinical outcome. Conclusion: In the study group, the time from symptoms onset to hospital arrival and the door-to-groin puncture time were significantly more prolonged than in the control group. In moderate-severe strokes, the 3-month mortality was significantly higher in the study group (31% vs. 6%; p=0.01), and the number of patients with poor functional outcomes was significantly higher in the study group (73% vs. 44%; p=0.03). Results : During the lockdown period due to Covid-19 pandemic, patients with acute ischemic stroke had a worse prognosis. These findings suggest the need to improve the health system organization to guarantee an appropriate treatment during the pandemic, including the patients that are not affected by Covid-19.
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- 2021
6. The PRIAMO study: age- and sex-related relationship between prodromal constipation and disease phenotype in early Parkinson’s disease
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L Grasso, Silvia Ramat, Simone Gallerini, Paolo Barone, G. Di Brigida, D. Fogli, Tommaso Scaravilli, M. Braga, Alessandra Nicoletti, M. Romeno, Paolo Martinelli, G. Gurgone, Cesare Colosimo, E. Pilleri, V. Sorbello, S. Amidei, F. Pennisi, Francesco Iemolo, Giorgio Trianni, Vincenzo Toni, E. Milan, Raffaele Palladino, D. Benincasa, Giovanni Pezzoli, M. G. Randisi, Alfredo Petrone, Arianna Guidubaldi, R. Alfano, Tania P. Avarello, A. Scaglioni, Anna Rita Bentivoglio, C. Modica, L. Ferigo, M. Manfredi, Domenico Consoli, Giuseppe Meco, Giampiero Volpe, S. Griffini, Francesca Morgante, R. Scala, G. Nordera, Angelo Antonini, G. Floris, Roberto Erro, R. Muoio, Salvatore Zappulla, Luigi Bartolomei, Edo Bottacchi, Antonio Pisani, V. Petretta, Giovanni Fabbrini, G. Ciacci, L. Maiello, G. Ceravolo, M. Di Giovanni, V. Nastasi, Rocco Quatrale, D. Tiple, Marcello Deriu, S. Lanfranchi, Marianna Capecci, Alberto Albanese, T. Cuomo, Francesco E. Pontieri, Vincenzo Moschella, G. Sciortino, F. A. De Falco, S. Biguzzi, Leonardo Lopiano, Marina Picillo, C. Alesi, D. De Gaspari, Michele Abrignani, Gabriella Santangelo, Fabrizio Stocchi, R. Luciano, M. Baratti, R. M. Giglia, Cesa Scaglione, B. Troianiello, Giovanni Abbruzzese, M. Mucchiut, F. Pepe, S. Zanini, L. Capus, N. Caravona, Giovanni Cossu, V. Agnetti, G. Albani, L. Kiferle, E. Giaccaglini, Roberto Marconi, M. Iellamo, R. Marano, D. Medici, Monica Ulivelli, G. A. Cocco, M. Perini, P. Del Dotto, Rosa M. Gaglio, Rodolfo Savica, C. Logi, G. Ciccarelli, P. Massimo, M. Pesare, Antonino Cannas, Roberto Ceravolo, P. Simone, Letterio Morgante, P. Soliveri, S. Meoni, Picillo, M., Palladino, R., Erro, R., Alfano, R., Colosimo, C., Marconi, R., Antonini, A., Barone, P., Morgante, L., Benincasa, D., Quatrale, R., Biguzzi, S., Braga, M., Ceravolo, G., Capecci, M., Meco, G., Caravona, N., Scala, R., De Falco, F. A., Pezzoli, G., De Gaspari, D., Bottacchi, E., Di Giovanni, M., Cannas, A., Floris, G., Gallerini, S., Grasso, L., Gaglio, R. M., Gurgone, G., Volpe, G., Zappulla, S., Ceravolo, R., Kiferle, L., Ramat, S., Meoni, S., Pisani, A., Moschella, V., Morgante, F., Savica, R., Pepe, F., Ciccarelli, G., Petretta, V., Giglia, R. M., Randisi, M. G., Iemolo, F., Avarello, T. P., Romeno, M., Santangelo, G., Stocchi, F., Sciortino, G., Sorbello, V., Nicoletti, A., Tiple, D., Fabbrini, G., Bentivoglio, A., Pontieri, F. E., Guidubaldi, A., Muoio, R., Toni, V., Del Dotto, P., Logi, C., Ciacci, G., Ulivelli, M., Perini, M., Lanfranchi, S., Griffini, S., Troianiello, B., Baratti, M., Amidei, S., Consoli, D., Iellamo, M., Cuomo, T., Scaglioni, A., Medici, D., Manfredi, M., Abbruzzese, G., Di Brigida, G., Cocco, G. A., Agnetti, V., Cossu, G., Deriu, M., Abrignani, M., Modica, C., Albani, G., Milan, E., Martinelli, P., Scaglione, C., Mucchiut, M., Zanini, S., Pennisi, F., Soliveri, P., Albanese, A., Massimo, P., Bartolomei, L., Capus, L., Ferigo, L., Marano, R., Nastasi, V., Luciano, R., Maiello, L., Simone, P., Fogli, D., Lopiano, L., Pesare, M., Nordera, G., Pilleri, E., Scaravilli, T., Giaccaglini, E., Alesi, C., Petrone, A., and Trianni, G.
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Male ,Neurology ,Parkinson's disease ,Constipation ,Heterogeneity ,Parkinson ,Phenotype ,Prodromal ,Sex ,PROGRESSION ,Disease ,0302 clinical medicine ,Apathy ,Neuroradiology ,Original Communication ,Cognition ,Parkinson Disease ,030211 gastroenterology & hepatology ,Female ,medicine.symptom ,NONMOTOR SYMPTOMS ,Life Sciences & Biomedicine ,PRIAMO study group ,Human ,medicine.medical_specialty ,Clinical Neurology ,Prodromal Symptoms ,Prodromal Symptom ,03 medical and health sciences ,Internal medicine ,medicine ,Humans ,Clinical phenotype ,Aged ,Science & Technology ,Neurology & Neurosurgery ,business.industry ,1103 Clinical Sciences ,Biomarker ,medicine.disease ,DYSFUNCTION ,Biomarkers ,Neurology (clinical) ,Neurosciences & Neurology ,business ,1109 Neurosciences ,030217 neurology & neurosurgery - Abstract
Objectives To explore the impact of sex and age on relationship between prodromal constipation and disease phenotype in Parkinson’s disease at early stages. Methods A total of 385 Parkinson’s disease patients from the PRIAMO study were classified according to the presence of prodromal constipation and followed for 24 months. Multivariable mixed-effect models were applied. All analyses were performed separately for sex (64.1% men) and median age (different by sex: 67 years-old in men and 68 years-old in women). Results As for sex, prodromal constipation was associated with greater odds of attention/memory complaints and apathy symptoms in women only. As for age, prodromal constipation was associated with lower cognitive and higher apathy scores in older patients only. Conclusions Prodromal constipation anticipates lower cognitive performances and more severe apathy since the earliest stages in women and older patients. Sex- and age-related heterogeneity of prodromal markers of Parkinson’s disease may impact disease phenotype.
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- 2021
7. Does an association between cigarette smoking and Parkinson's Disease-related psychosis exist? Insights from a large non-demented cohort
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Claudio Terravecchia, Mario Zappia, Alessandra Nicoletti, Cristina Rascunà, Giovanni Mostile, Paolo Barone, Gennarina Arabia, Roberto Marconi, Letterio Morgante, and Andrea Quattrone
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Male ,Psychosis ,medicine.medical_specialty ,Multivariate analysis ,Parkinson's disease ,Hallucinations ,Cigarette Smoking ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Humans ,Medicine ,030212 general & internal medicine ,Risk factor ,Psychiatry ,business.industry ,Hamilton Rating Scale for Depression ,Parkinson Disease ,Cognition ,Environmental exposure ,medicine.disease ,Psychotic Disorders ,Neurology ,Cohort ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
Background Parkinson's Disease-related Psychosis (PDP) encompasses a spectrum of symptoms ranging from “minor” hallucinations to formed hallucinations and delusions. Notably, cognitive impairment has been recognized as the strongest risk factor for PDP. Several evidences suggest a possible role of cigarette smoking in both cognition and psychotic syndromes. Objectives To evaluate the possible independent association between cigarette smoking and PDP in a large cohort of non-demented PD patients. Methods A cohort of non-demented PD patients was selected from the FRAGAMP study population. All participants underwent a standardised structured questionnaire to assess demographic, clinical and environmental exposure data. Clinical features were assessed using UPDRS, HY stage, AIMS, MMSE and Hamilton Rating Scale for Depression. Presence of psychotic symptoms was assessed using UPDRS-I.2 score. Diagnosis of PDP was made according to NINDS/NIMH criteria. Results Four hundred eighty-five non-demented PD patients were enrolled [292 men (60.2%); mean age ± SD 65.6 ± 9.8]. Among them, 28 (5.8%) had PDP. Multivariate analysis, adjusting by HY stage, MMSE and LED, shown an independent association between PDP and “nightmares-abnormal movements during sleep” and current smoking [adjOR 7.39 (95%CI 1.45–37.69; P-value 0.016)]. Conclusions Our findings provide interesting insights about the possible role of current smoking in facilitating the occurrence of psychotic symptoms in PD.
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- 2021
8. Movement Disorders Emergencies
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Carlo Colosimo, Roberto Marconi, Roberto Eleopra, Giovanni Cossu, and Francesca Galletti
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Dystonia ,medicine.medical_specialty ,Physical medicine and rehabilitation ,Movement disorders ,Acute onset ,business.industry ,medicine ,Disease ,medicine.symptom ,business ,medicine.disease - Abstract
The concept of movement disorders emergencies has been introduced to describe all those conditions in which the clinical picture is an acute or subacute evolution of the movement disorder in which a diagnostic delay can cause severe clinical consequences, including death. Both parkinsonian-type hypokinetic disorders and various hyperkinetic forms can, indeed, have an acute onset and present in aggressive form (Fig. 14.1). At the same time, sudden severe complications of chronic diseases, such as Parkinson’s disease or dystonia, may also occur [1].
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- 2020
9. Reduced Admissions for Cerebrovascular Events during COVID-19 Outbreak in Italy
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Simona Sacco, Stefano Ricci, Raffaele Ornello, Paolo Eusebi, Luca Petraglia, Danilo Toni, Eugenia Rota, Gianluca Bruzzone, Lucia Testa, Roberta Bongioanni, Mara Rosso, Carmelo Labate, Roberto Tarletti, Roberto Cantello, Thomas Fleetwood, Fabio Melis, Daniele Imperiale, Salvatore Amarù, Monica Reggiani, Luigi Ruiz, Elia Cipriano, Delfina Ferrandi, Patrizia Julita, Liana Africa, Piero Meinieri, Maria Federica Grasso, Serena Servo, Roberto Cavallo, Gigliola Chianale, Andrea Naldi, Paolo Cerrato, Elisa Rubino, Alessia Giossi, Valentina Puglisi, Luisa Vinciguerra, Ignazio Santilli, Bianca Maria Bordo, Simona Marcheselli, Julia Bottini, Caterina Mariotto D’Alessandro, Giuseppe Micieli, Anna Cavallini, Isabella Canavero, Francesco Muscia, Graziamaria Nuzzaco, Alfonso Ciccone, Giorgio Silvestrelli, Andrea Salmaggi, Davide Sangalli, Carla Zanferrari, Simona Fanucchi, Michela Ranieri, Simone Beretta, Carlo Ferrarese, Francesco Pasini, Francesco Santangelo, Nicoletta Checcarelli, Sandro Beretta, Paola Bazzi, Massimo Camerlingo, Marcello Tognozzi, Giorgio Caneve, Alessandro Adami, Rocco Quatrale, Adriana Critelli, Luigi Bartolomei, Maela Masato, Francesco Perini, Antonella De Boni, Caterina Disco, Claudio Baracchini, Alessio Pieroni, Roberto Lerario, Monia Russo, Alberto Polo, Alessandra Danese, Luca Valentinis, Antonio Baldi, Simone Tonello, Francesco Paladin, Agnese Tonon, Bruno Bonetti, Manuel Cappellari, Francesco Teatini, Roberto Currò Dossi, Enrica Franchini, Bruno Giometto, Valeria Bignamini, Paolo Manganotti, Marcello Naccarato, Gian Luigi Gigli, Simone Lorenzut, Giovanni Merlino, Mariarosaria Valente, Michele Rana, Carolina Gentile, Tiziana Tassinari, Annalisa Sugo, Valentina Saia, Maurizio Balestrino, Alberto Coccia, Cinzia Finocchi, Franco Valzania, Maria Luisa Zedde, Giulia Toschi, Marco Longoni, Matteo Paolucci, Valeria Tugnoli, Pietro Querzani, Marina Padroni, Stefano Meletti, Guido Bigliardi, Maria Luisa Dall’Acqua, Andrea Zini, Mauro Gentile, Ludovica Migliaccio, Alberto Chiti, Rossana Tassi, Giuseppe Martini, Patrizia Nencini, Maria Lamassa, Michelangelo Mancuso, Giovanni Orlandi, Elena Ferrari, Roberto Marconi, Simone Gallerini, Vincenzo Groggia, Gino Volpi, Chiara Menichetti, Stefano Spolveri, Mauro Silvestrini, Giovanna Viticchi, Laura Buratti, Giuseppe Pelliccioni, Eleonora Potente, Tatiana Mazzoli, Erica Marsili, Silvia Cenciarelli, Antonella Picchioni, Franco Costantini, Carlo Colosimo, Maurizio Paciaroni, Valeria Caso, Maurizia Rasura, Mario Beccia, Nicola Falcone, Marisa Di Stefano, Emanuela Cecconi, Sabrina Anticoli, Francesca Romana Pezzella, Marilena Mangiardi, Maurizio Plocco, Maria Magarelli, Carlo Emanuele Saggese, Irene Berto, Maria Concetta Altavista, Cinzia Roberti, Marina Diomedi, Fabrizio Sallustio, Alessandro Rocco, Letizia Maria Cupini, Novella Bonaffini, Maria Vittoria De Angelis, Anna Digiovanni, Marianna Rispoli, Berardino Orlandi, Federica De Santis, Enrico Colangeli, Francesco Di Blasio, Caterina Di Carmine, Pierluigi Tocco, Maurizio Melis, Jessica Moller, Valeria Saddi, Antonio Manca, Antonio Baule, Antonello Caddeo, Nicola Iorio, Rosa Napoletano, Maria di Gregorio, Giampiero Volpe, Florindo D’Onofrio, Daniele Spitaleri, Leonardo Barbarini, Gaetano Barbagallo, Marcella Caggiula, Bonaventura Ardito, Domenico Di Noia, Pietro Di Viesti, Maurizio Angelo Leone, Vincenzo Inchingolo, Marco Petruzzellis, Federica Rizzo, Mariantonietta Savarese, Alfredo Petrone, Franco Galati, Luciano Arcudi, Damiano Branca, Paolo Aridon, Valentina Arnao, Rosa Musolino, Cristina Dell’Aera, Isabella Francalanza, Luigi Grimaldi, Matilde Gammino, Antonello Giordano, Giuseppe Zelante, Enzo Sanzaro, Antonio Gasparro, Sacco, Simona, Ricci, Stefano, Ornello, Raffaele, Eusebi, Paolo, Petraglia, Luca, Toni, Danilo, and paolo, aridon
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disease outbreak ,Male ,medicine.medical_treatment ,030204 cardiovascular system & hematology ,Italy ,cerebral hemorrhage ,disease outbreaks ,incidence ,ischemic attack, transient ,0302 clinical medicine ,Epidemiology ,80 and over ,Medicine ,Thrombolytic Therapy ,Acute ischemic stroke ,Thrombectomy ,Aged, 80 and over ,Ischemic Attack ,Transient ,Incidence (epidemiology) ,Endovascular Procedures ,Middle Aged ,Hospitalization ,ComputingMethodologies_DOCUMENTANDTEXTPROCESSING ,Settore MED/26 - Neurologia ,Female ,Cardiology and Cardiovascular Medicine ,Aged ,COVID-19 ,Cerebral Hemorrhage ,Humans ,Ischemic Attack, Transient ,Ischemic Stroke ,medicine.medical_specialty ,2019-20 coronavirus outbreak ,Coronavirus disease 2019 (COVID-19) ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,Revascularization ,Settore MED/26 ,03 medical and health sciences ,Advanced and Specialized Nursing ,business.industry ,Outbreak ,Emergency medicine ,Brief Reports ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
Supplemental Digital Content is available in the text., Background and Purpose: We aimed to investigate the rate of hospital admissions for cerebrovascular events and of revascularization treatments for acute ischemic stroke in Italy during the coronavirus disease 2019 (COVID-19) outbreak. Methods: The Italian Stroke Organization performed a multicenter study involving 93 Italian Stroke Units. We collected information on hospital admissions for cerebrovascular events from March 1 to March 31, 2020 (study period), and from March 1 to March 31, 2019 (control period). Results: Ischemic strokes decreased from 2399 in 2019 to 1810 in 2020, with a corresponding hospitalization rate ratio (RR) of 0.75 ([95% CI, 0.71–0.80] P
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- 2020
10. LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
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Marialuisa Quadri, Wim Mandemakers, Martyna M Grochowska, Roy Masius, Hanneke Geut, Edito Fabrizio, Guido J Breedveld, Demy Kuipers, Michelle Minneboo, Leonie J M Vergouw, Ana Carreras Mascaro, Ekaterina Yonova-Doing, Erik Simons, Tianna Zhao, Alessio B Di Fonzo, Hsiu-Chen Chang, Piero Parchi, Marta Melis, Leonor Correia Guedes, Chiara Criscuolo, Astrid Thomas, Rutger W W Brouwer, Daphne Heijsman, Angela M T Ingrassia, Giovanna Calandra Buonaura, Janneke P Rood, Sabina Capellari, Annemieke J Rozemuller, Marianna Sarchioto, Hsin Fen Chien, Nicola Vanacore, Simone Olgiati, Yah-Huei Wu-Chou, Tu-Hsueh Yeh, Agnita J W Boon, Susanne E Hoogers, Mehrnaz Ghazvini, Arne S IJpma, Wilfred F J van IJcken, Marco Onofrj, Paolo Barone, David J Nicholl, Andreas Puschmann, Michele De Mari, Anneke J Kievit, Egberto Barbosa, Giuseppe De Michele, Danielle Majoor-Krakauer, John C van Swieten, Frank J de Jong, Joaquim J Ferreira, Giovanni Cossu, Chin-Song Lu, Giuseppe Meco, Pietro Cortelli, Wilma D J van de Berg, Vincenzo Bonifati, Anneke J.A. Kievit, Agnita J.W. Boon, Janneke P.A Rood, Leonie J.M. Vergouw, Frank J. de Jong, John C. van Swieten, Francesco U.S. Mattace-Raso, Klaus L. Leenders, Joaquim J. Ferreira, Emil Ygland, Christer Nilsson, Hsin F. Chien, Laura Bannach Jardim, Carlos R.M. Rieder, Leonardo Lopiano, Cristina Tassorelli, Claudio Pacchetti, Giulio Riboldazzi, Giorgio Bono, Cristoforo Comi, Alessandro Padovani, Barbara Borroni, Francesco Raudino, Emiliana Fincati, Michele Tinazzi, Alberto Bonizzato, Carlo Ferracci, Alessio Dalla Libera, Giovanni Abbruzzese, Roberto Marconi, Marco Guidi, Giovanni Fabbrini, Alfredo Berardelli, Fabrizio Stocchi, Laura Vacca, Marina Picillo, Claudia Dell'Aquila, Gianni Iliceto, Vincenzo Toni, Giorgio Trianni, Monica Gagliardi, Grazia Annesi, Aldo Quattrone, Valeria Saddi, Gianni Cossu, Maurizio Melis, Quadri, Marialuisa, Mandemakers, Wim, Grochowska, Martyna M, Masius, Roy, Geut, Hanneke, Fabrizio, Edito, Breedveld, Guido J, Kuipers, Demy, Minneboo, Michelle, Vergouw, Leonie J M, Carreras Mascaro, Ana, Yonova-Doing, Ekaterina, Simons, Erik, Zhao, Tianna, Di Fonzo, Alessio B, Chang, Hsiu-Chen, Parchi, Piero, Melis, Marta, Correia Guedes, Leonor, Criscuolo, Chiara, Thomas, Astrid, Brouwer, Rutger W W, Heijsman, Daphne, Ingrassia, Angela M T, Calandra Buonaura, Giovanna, Rood, Janneke P, Capellari, Sabina, Rozemuller, Annemieke J, Sarchioto, Marianna, Fen Chien, Hsin, Vanacore, Nicola, Olgiati, Simone, Wu-Chou, Yah-Huei, Yeh, Tu-Hsueh, Boon, Agnita J W, Hoogers, Susanne E, Ghazvini, Mehrnaz, IJpma, Arne S, van IJcken, Wilfred F J, Onofrj, Marco, Barone, Paolo, Nicholl, David J, Puschmann, Andrea, De Mari, Michele, Kievit, Anneke J, Barbosa, Egberto, De Michele, Giuseppe, Majoor-Krakauer, Danielle, van Swieten, John C, de Jong, Frank J, Ferreira, Joaquim J, Cossu, Giovanni, Lu, Chin-Song, Meco, Giuseppe, Cortelli, Pietro, van de Berg, Wilma D J, Bonifati, Vincenzo, Netherlands Institute for Neuroscience (NIN), Amsterdam Neuroscience - Neurodegeneration, Neurology, Anatomy and neurosciences, Pathology, Clinical Genetics, Erasmus MC other, Cell biology, Developmental Biology, and Ijpma, Arne S
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Lewy Body Disease ,Male ,Pluripotent Stem Cells ,0301 basic medicine ,Proband ,Heterozygote ,medicine.medical_specialty ,Candidate gene ,Parkinson's disease ,Genetic Linkage ,Disease ,03 medical and health sciences ,0302 clinical medicine ,Genetic linkage ,Internal medicine ,medicine ,Journal Article ,Humans ,Dementia ,Family ,RNA, Messenger ,Family history ,LDL-Receptor Related Proteins ,Chromosomes, Human, Pair 14 ,Dementia with Lewy bodies ,business.industry ,Brain ,Parkinson Disease ,Middle Aged ,medicine.disease ,Pedigree ,030104 developmental biology ,Italy ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Summary Background Most patients with Parkinson's disease, Parkinson's disease dementia, and dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of this study was to identify a novel gene implicated in the development of these disorders. Methods Our study was done in three stages. First, we did genome-wide linkage analysis of an Italian family with dominantly inherited Parkinson's disease to identify the disease locus. Second, we sequenced the candidate gene in an international multicentre series of unrelated probands who were diagnosed either clinically or pathologically with Parkinson's disease, Parkinson's disease dementia, or dementia with Lewy bodies. As a control, we used gene sequencing data from individuals with abdominal aortic aneurysms (who were not examined neurologically). Third, we enrolled an independent series of patients diagnosed clinically with Parkinson's disease and controls with no signs or family history of Parkinson's disease, Parkinson's disease dementia, or dementia with Lewy bodies from centres in Portugal, Sardinia, and Taiwan, and screened them for specific variants. We also did mRNA and brain pathology studies in three patients from the international multicentre series carrying disease-associated variants, and we did functional protein studies in in-vitro models, including neurons from induced pluripotent stem-like cells. Findings Molecular studies were done between Jan 1, 2008, and Dec 31, 2017. In the initial kindred of ten affected Italian individuals (mean age of disease onset 59·8 years [SD 8·7]), we detected significant linkage of Parkinson's disease to chromosome 14 and nominated LRP10 as the disease-causing gene. Among the international series of 660 probands, we identified eight individuals (four with Parkinson's disease, two with Parkinson's disease dementia, and two with dementia with Lewy bodies) who carried different, rare, potentially pathogenic LRP10 variants; one carrier was found among 645 controls with abdominal aortic aneurysms. In the independent series, two of these eight variants were detected in three additional Parkinson's disease probands (two from Sardinia and one from Taiwan) but in none of the controls. Of the 11 probands from the international and independent cohorts with LRP10 variants, ten had a positive family history of disease and DNA was available from ten affected relatives (in seven of these families). The LRP10 variants were present in nine of these ten relatives, providing independent—albeit limited—evidence of co-segregation with disease. Post-mortem studies in three patients carrying distinct LRP10 variants showed severe Lewy body pathology. Of nine variants identified in total (one in the initial family and eight in stage 2), three severely affected LRP10 expression and mRNA stability (1424+5delG, 1424+5G→A, and Ala212Serfs*17, shown by cDNA analysis), four affected protein stability (Tyr307Asn, Gly603Arg, Arg235Cys, and Pro699Ser, shown by cycloheximide-chase experiments), and two affected protein localisation (Asn517del and Arg533Leu; shown by immunocytochemistry), pointing to loss of LRP10 function as a common pathogenic mechanism. Interpretation Our findings implicate LRP10 gene defects in the development of inherited forms of α-synucleinopathies. Future elucidation of the function of the LRP10 protein and pathways could offer novel insights into mechanisms, biomarkers, and therapeutic targets. Funding Stichting ParkinsonFonds, Dorpmans-Wigmans Stichting, Erasmus Medical Center, ZonMw—Memorabel programme, EU Joint Programme Neurodegenerative Disease Research (JPND), Parkinson's UK, Avtal om Lakarutbildning och Forskning (ALF) and Parkinsonfonden (Sweden), Lijf and Leven foundation, and cross-border grant of Alzheimer Netherlands–Ligue Europeene Contre la Maladie d'Alzheimer (LECMA).
- Published
- 2018
11. Impulse control disorders in advanced Parkinson's disease with dyskinesia: The ALTHEA study
- Author
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Tiziano Tamburini, Alessandra Nicoletti, Ruxandra Julia Vorovenci, Angelo Antonini, Angela Matinella, Leonardo Lopiano, Francesca Morgante, Pietro Cortelli, Giovanna Calandra-Buonaura, Luca Weis, Michele Tinazzi, Mario Zappia, Maria Cristina Jori, Roberta Biundo, Roberto Marconi, and Giovanni Abbruzzese
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Neurology ,Movement disorders ,Parkinson's disease ,Impulse control disorder ,Paroxysmal dyskinesia ,medicine.disease ,Comorbidity ,nervous system diseases ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Dyskinesia ,Internal medicine ,Severity of illness ,otorhinolaryngologic diseases ,medicine ,Physical therapy ,Neurology (clinical) ,medicine.symptom ,Psychology ,030217 neurology & neurosurgery - Abstract
Background Impulse control disorders and dyskinesia are common and disabling complications of dopaminergic treatment in Parkinson's disease. They may coexist and are possibly related. The objectives of this study were to assess the frequency and severity of impulse control disorders in Parkinson's disease patients with dyskinesia. Methods The ALTHEA study enrolled 251 Parkinson's disease patients with various degrees of dyskinesia severity from 11 movement disorders centers in Italy. Each patient underwent a comprehensive assessment including Unified Dyskinesia Rating Scale and the Questionnaire for Impulsive Compulsive Disorders in Parkinson Disease-Rating Scale. Results There was an overall 55% frequency of impulse control disorder and related behaviors (36% were clinically significant). The positive patients were younger at disease diagnosis and onset and had higher Unified Dyskinesia Rating Scale historical and total score (P = 0.001 and P = 0.02, respectively, vs negative). There was an increased frequency of clinically significant impulse control disorders in patients with severe dyskinesia (P = 0.013), a positive correlation between the questionnaire total score and dopamine agonist dose (P = 0.018), and a trend with levodopa dose. Conclusions More than half of Parkinson's disease patients with dyskinesia have impulse control disorders and related behaviors, which are frequently clinically significant. Dopaminergic therapy total dose is associated with their severity. Clinicians should carefully assess patients with maladaptive behaviors and dyskinesia because they do not properly evaluate their motor and nonmotor status. © 2017 International Parkinson and Movement Disorder Society
- Published
- 2017
12. Resenha: A educadora Maria Laura Mouzinho Leite Lopes o seu olhar para o futuro
- Author
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Cesar Roberto Marconi da Costa
- Subjects
Pharmacology (medical) - Published
- 2017
13. Paroxysmal painful spasms associated with central pontine myelinolisis in the context of nonketotic hyperglycemia
- Author
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Roberto Marconi, Simone Gallerini, Caterina Marotti, Luca Marsili, and Manuele Bartalucci
- Subjects
Pediatrics ,medicine.medical_specialty ,business.industry ,Context (language use) ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,Neurology ,medicine ,Central pontine myelinolysis ,030212 general & internal medicine ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Published
- 2018
14. [The dawn era in the management of acute ischemic stroke and its health policy implications. Should interventional cardiologists be involved?]
- Author
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Giovanni, Falsini, Benedetta, Calchetti, Francesco, Liistro, Giovanni, Linoli, Andrea, Picchi, Paolo, Angioli, Kenneth, Ducci, Ugo, Limbruno, Roberto, Marconi, and Leonardo, Bolognese
- Subjects
Stroke ,Cardiologists ,Health Policy ,Humans ,Interdisciplinary Communication ,Physician's Role ,Brain Ischemia ,Thrombectomy - Abstract
Similarly to what happened for myocardial infarction treatment during the two previous decades, ischemic stroke therapy has radically changed in recent years after the encouraging clinical results on the use of mechanical revascularization systems. The ever-increasing use of thrombectomy, which is now the first-choice approach for achieving rapid reperfusion of the ischemic brain, inaugurates a new era in the treatment of ischemic stroke, with important social and healthcare implications and the need for effective integrated stroke networks on a regional basis.Given the high annual rates of stroke and that approximately 35% of strokes are caused by the thrombotic occlusion of a large cerebral vessel, with a treatment window reaching up to 24 h after onset in selected cases, the resources of interventional neuroradiology are not enough to meet treatment needs in terms of performing centers and number of operators. The possibility of using centers already active for the treatment of acute myocardial infarction has therefore been taken into consideration. This article presents objective data to support the validity of this strategy and discusses how to create treatment networks using the interventional skills of cardiologists with the implementation of multidisciplinary functional structures.
- Published
- 2019
15. Clinical phenotype and risk of levodopa-induced dyskinesia in Parkinson’s disease
- Author
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Alessandra Nicoletti 1, Giovanni Mostile 1, Giuseppe Nicoletti 2, Gennarina Arabia 3, Giovanni Iliceto 4, Paolo Lamberti 4, Roberto Marconi 5, Letterio Morgante 6, Paolo Barone 7, Aldo Quattrone 2, 3, and Mario Zappia 1
- Subjects
Male ,0301 basic medicine ,Dyskinesia, Drug-Induced ,Time Factors ,Neurology ,Parkinson's disease ,Akinetic-rigid ,Clinical phenotype ,Dyskinesia ,Tremor-dominant ,Disease ,Logistic regression ,Severity of Illness Index ,Antiparkinson Agents ,Levodopa ,0302 clinical medicine ,Neuroradiology ,Age Factors ,Parkinson Disease ,Middle Aged ,Phenotype ,Italy ,Female ,medicine.symptom ,Risk ,medicine.medical_specialty ,Parkinson’s disease ,Neurology (clinical) ,Late onset ,Interviews as Topic ,03 medical and health sciences ,Internal medicine ,medicine ,Humans ,Aged ,Levodopa-induced dyskinesia ,business.industry ,medicine.disease ,nervous system diseases ,Logistic Models ,030104 developmental biology ,Case-Control Studies ,Multivariate Analysis ,Physical therapy ,business ,030217 neurology & neurosurgery - Abstract
It is unclear whether patients with different clinical phenotypes of Parkinson's disease (PD) differ in their risk of developing levodopa-induced dyskinesia. We evaluated the possible association between clinical phenotypes and risk of levodopa-induced dyskinesia in PD patients using a case-control design. The FRAGAMP study is a large Italian multicenter study. Patients affected by PD diagnosed according to the Gelb's criteria were enrolled and underwent a face-to-face interview. Clinical scales were used to evaluate motor and cognitive impairment. Presence of dyskinesia was assessed by the item 32 of the UPDRS section IV. On the basis of the most prominent motor symptoms at onset PD, patients were classified as tremor-dominant, akinetic-rigid, or mixed type. 485 PD patients (292 men; mean age 65.6 ± 9.8) were enrolled in the study of whom 128 (26.4 %) presented levodopa-induced dyskinesia. Of the 485 patients, 311 (64.1 %) were classified as tremor-dominant, 104 (21.4 %) as Akinetic-Rigid and 70 (14.4 %) as mixed type. Multivariate logistic regression analysis showed a significant negative association between tremor-dominant phenotype and levodopa-induced dyskinesia (adjusted OR 0.48; 95 % CI 0.23-1.00; p value 0.05). When analysis was stratified by age at onset a stronger negative association was found among the late onset (>50 years) PD patients (OR 0.28; 95 % CI 0.11-0.70; p value 0.007) while no association was found among patients with an early onset. Our findings support the hypothesis that the occurrence of resting tremor as an initial manifestation of PD may predict a lower probability of developing levodopa-induced dyskinesia.
- Published
- 2016
16. Headache secondary to cervical artery dissections: practice pointers
- Author
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Caterina Marotti, Simone Gallerini, Roberto Marconi, Manuele Bartalucci, Luca Marsili, and Alberto Chiti
- Subjects
Adult ,Male ,medicine.medical_specialty ,Neurology ,Cervical Artery ,Vertebral artery dissection ,Dermatology ,Carotid artery dissection ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,030212 general & internal medicine ,Neuroradiology ,Aged ,Retrospective Studies ,Aged, 80 and over ,Neurologic Examination ,Vertebral Artery Dissection ,business.industry ,Headache ,General Medicine ,Emergency department ,Middle Aged ,medicine.disease ,Surgery ,Psychiatry and Mental health ,International Classification of Headache Disorders ,Female ,Neurology (clinical) ,Neurosurgery ,business ,030217 neurology & neurosurgery ,Follow-Up Studies - Abstract
Cervical artery dissections may present with mild and misleading symptoms such as a headache or cervical pain. In the absence of early diagnosis and therapy, such patients may have a high risk of cerebrovascular events. In order to refine evaluation of cervical artery dissections, we report the experience of a single center, focusing on clinical findings (e.g., headache and pain-related features at onset). From 2012 to 2017, 49 patients with cervical arteries dissections were admitted to our institution; 28 out of 49 patients (57%) presented with a headache or cervical pain, which were evaluated according to the International Classification of Headache Disorders (ICHD-III beta). Item C3a of ICHD-III beta (“pain is severe and continuous for days or longer”) was present in all patients symptomatic for a headache. Another common characteristic was the recent onset, with an average (± SD) timing from the onset of a headache to the first neurologic evaluation of 3 (± 2) days (range 1–5). A refined clinical evaluation of patients presenting with a headache at the Emergency Department could improve the early detection and management of patients with cervical artery dissections, in particular when presenting without other associated neurological symptoms.
- Published
- 2018
17. Treatment Strategies in Early Parkinson's Disease
- Author
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Luca, Marsili, Roberto, Marconi, and Carlo, Colosimo
- Subjects
Antiparkinson Agents ,Levodopa ,Monoamine Oxidase Inhibitors ,Dopamine Agonists ,Humans ,Parkinson Disease - Abstract
The clinicians' approach to the treatment of early Parkinson's disease (PD) should take into account numerous aspects, including how to inform a patient upon diagnosis and the critical decision of what therapy to adopt and when to start it. The treatment of the motor disorder associated with early PD needs to consider several crucial factors, such as age at onset, comorbidities, and the patient's functional requirements, and cannot be summarized in a simple formula. In younger patients (i.e., before the age of 70) and in those without high functional requirements, treatment is usually initiated with dopamine agonists and/or monoamine oxidase-B enzyme inhibitors (MAO-B I). By contrast, in older patients, or in those with high functional requirements, low doses of levodopa are generally used when treatment is started. In younger patients, levodopa should be added to dopamine agonists and/or MAO-B I, as required by disease progression, whereas in older patients, when response to levodopa alone is not satisfactory, dopamine agonists or catechol-O-methyltransferase inhibitors may subsequently be added.
- Published
- 2017
18. Treatment Strategies in Early Parkinson's Disease
- Author
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Roberto Marconi, Luca Marsili, and Carlo Colosimo
- Subjects
0301 basic medicine ,Motor disorder ,Levodopa ,medicine.medical_specialty ,Pediatrics ,Parkinson's disease ,Disease ,Neuroprotection ,Cellular and Molecular Neuroscience ,03 medical and health sciences ,0302 clinical medicine ,Dopamine ,Dopamine agonists ,Pharmacological therapy ,Neurology (clinical) ,Medicine ,business.industry ,medicine.disease ,030104 developmental biology ,Antiparkinson Agents ,Physical therapy ,Treatment strategy ,business ,030217 neurology & neurosurgery ,medicine.drug - Abstract
The clinicians' approach to the treatment of early Parkinson's disease (PD) should take into account numerous aspects, including how to inform a patient upon diagnosis and the critical decision of what therapy to adopt and when to start it. The treatment of the motor disorder associated with early PD needs to consider several crucial factors, such as age at onset, comorbidities, and the patient's functional requirements, and cannot be summarized in a simple formula. In younger patients (i.e., before the age of 70) and in those without high functional requirements, treatment is usually initiated with dopamine agonists and/or monoamine oxidase-B enzyme inhibitors (MAO-B I). By contrast, in older patients, or in those with high functional requirements, low doses of levodopa are generally used when treatment is started. In younger patients, levodopa should be added to dopamine agonists and/or MAO-B I, as required by disease progression, whereas in older patients, when response to levodopa alone is not satisfactory, dopamine agonists or catechol-O-methyltransferase inhibitors may subsequently be added.
- Published
- 2017
19. The PRIAMO study: urinary dysfunction as a marker of disease progression in early Parkinson's disease
- Author
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Roberto Marconi, Roberto Erro, Letterio Morgante, Cesare Colosimo, Angelo Antonini, Paolo Barone, Marina Picillo, Raffaele Palladino, Picillo, M., Palladino, R., Barone, P., Erro, R., Colosimo, C., Marconi, R., Morgante, L., and Antonini, A.
- Subjects
Male ,0301 basic medicine ,Longitudinal study ,Parkinson's disease ,Disease ,Severity of Illness Index ,SUBTYPES ,0302 clinical medicine ,Quality of life ,QUALITY-OF-LIFE ,Medicine ,Apathy ,Prospective Studies ,Parkinson ,Fatigue ,Parkinson Disease ,Middle Aged ,motor ,Neurology ,urinary ,BLADDER DYSFUNCTION ,movement disorders ,non-motor ,phenotype ,PRIAMO ,progression ,Aged ,Female ,Humans ,Sleep ,Urination Disorders ,Disease Progression ,Quality of Life ,Neurology (clinical) ,medicine.symptom ,NONMOTOR SYMPTOMS ,Life Sciences & Biomedicine ,medicine.medical_specialty ,DISORDERS ,Urinary system ,Clinical Neurology ,03 medical and health sciences ,Internal medicine ,PRIAMO Study Group ,DECLINE ,Science & Technology ,Neurology & Neurosurgery ,business.industry ,Neurosciences ,1103 Clinical Sciences ,Odds ratio ,medicine.disease ,NERVOUS-SYSTEM ,Confidence interval ,PATHOLOGY ,030104 developmental biology ,Neurosciences & Neurology ,1109 Neurosciences ,business ,030217 neurology & neurosurgery ,MULTIPLE-SYSTEM ATROPHY - Abstract
Background and purpose New venues are currently being explored to predict disease progression in Parkinson's disease (PD), such as non-motor subtypes and models merging motor and non-motor symptoms (NMS). By involving a subgroup of 585 patients from the PRIAMO (Parkinson Disease Non-motor Symptoms) study, the present 24-month longitudinal prospective analysis aimed to demonstrate that urinary dysfunction is an early marker of higher motor and non-motor burden as well as lower health-related quality of life. Methods and results Multivariable mixed-effect logistic regression models controlling for demographic and clinical variables showed that the following NMS domains were associated with urinary dysfunction: gastrointestinal [odds ratio (OR) 2.57, 95% confidence interval (CI) 1.67–3.97, P < 0.001], cardiovascular (OR 2.22, 95% CI 1.18–4.17, P = 0.013), skin (OR 1.81, 95% CI 1.06–3.08, P = 0.029), sleep (OR 2.06, 95% CI 1.34–3.16, P = 0.001), pain (OR 1.85, 95% CI 1.21–2.83, P = 0.004), fatigue (OR 2.40, 95% CI 1.56–3.68, P < 0.001), apathy (OR 2.79, 95% CI 1.72–4.52, P < 0.001) and respiratory (OR 1.82, 95% CI 1.02–3.23, P = 0.039). Analysis also demonstrated that urinary dysfunction was associated with higher motor disability (coefficient 1.73, 95% CI 0.68–2.78, P = 0.001) and lower health-related quality of life (coefficient −0.05, 95% CI −0.08 to −0.02, P < 0.001, and coefficient −3.49, 95% CI −5.21 to −1.77, P < 0.001) but not with more severe cognitive disability (coefficient −0.34, 95% CI −0.92 to 0.24, P = 0.251). Conclusions This is the first prospective longitudinal study involving a large cohort of PD patients demonstrating the relevance of urinary dysfunction as an early marker of higher motor and non-motor disability as well as lower health-related quality of life. These findings support a role for urinary dysfunction as an early marker of more severe disease progression.
- Published
- 2017
20. An unusual cause of cervicobrachial pain: vertebral artery dissection
- Author
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Simone Gallerini, Luca Marsili, Roberto Marconi, Caterina Marotti, Manuele Bartalucci, and Eleonora Innocenti
- Subjects
medicine.medical_specialty ,Neurology ,business.industry ,Vertebral artery dissection ,Dermatology ,General Medicine ,medicine.disease ,03 medical and health sciences ,Psychiatry and Mental health ,0302 clinical medicine ,medicine ,030212 general & internal medicine ,Neurology (clinical) ,Neurosurgery ,Radiology ,business ,030217 neurology & neurosurgery ,Neuroradiology - Published
- 2017
21. C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease
- Author
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Roberto Marconi, Antonio Federico, Antonella Trapassi, Stefania Battistini, Alba Rosa Pati, Claudia Ricci, Carla Battisti, Andrea Mignarri, and Maria Teresa Dotti
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Neurology ,Dermatology ,Neuropsychiatry ,03 medical and health sciences ,0302 clinical medicine ,Aged ,Brain ,Cognition Disorders ,Female ,Humans ,Intellectual Disability ,Magnetic Resonance Imaging ,Proteins ,DNA Repeat Expansion ,2708 ,Neurology (clinical) ,Psychiatry and Mental Health ,Intellectual disability ,medicine ,Psychiatry ,Neuroradiology ,medicine.diagnostic_test ,business.industry ,C9orf72 Gene ,Magnetic resonance imaging ,General Medicine ,medicine.disease ,030104 developmental biology ,Neurosurgery ,business ,030217 neurology & neurosurgery ,Clinical psychology - Published
- 2017
22. Head trauma and Parkinsonâs disease: results from an Italian case-control study
- Author
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G. Iliceto, Mario Zappia, Paolo Barone, Alessandra Nicoletti, Letterio Morgante, Roberto Marconi, Aldo Quattrone, Rosario Vasta, Gennarina Arabia, Paolo Lamberti, Giuseppe Nicoletti, and Giovanni Mostile
- Subjects
Male ,Movement disorders ,Neurology ,Multivariate analysis ,Severity of Illness Index ,0302 clinical medicine ,Risk Factors ,Surveys and Questionnaires ,Epidemiology ,Odds Ratio ,Craniocerebral Trauma ,Parkinsonâ s disease ,030212 general & internal medicine ,Age of Onset ,Family history ,Neurologic Examination ,medicine.diagnostic_test ,Parkinson Disease ,Case-control study ,General Medicine ,Middle Aged ,Italy ,Psychiatry and Mental Health ,Female ,medicine.symptom ,Head trauma ,Parkinsonâs disease ,2708 ,Neurology (clinical) ,medicine.medical_specialty ,Neurological examination ,Dermatology ,Interviews as Topic ,03 medical and health sciences ,Internal medicine ,medicine ,Humans ,Genetic Predisposition to Disease ,Aged ,Retrospective Studies ,business.industry ,Case-Control Studies ,Multivariate Analysis ,Parkinson’s disease ,Physical therapy ,business ,030217 neurology & neurosurgery - Abstract
We evaluated the possible association between head trauma and Parkinson's disease (PD). The FRAGAMP (Fattori di Rischio Ambientali e Genetici Associati alla Malattia di Parkinson) study is a large Italian multicenter case-control study carried out to evaluate the possible role of environmental and genetic factors in PD. Cases and controls were enrolled from six movement disorders centers located in the Central-Southern Italy. A standardized questionnaire was administered to record demographic, epidemiological, and clinical data. Positive history of head trauma was considered only if the head trauma preceded the onset of PD. All cases and controls underwent a standard neurological examination. Adjusted ORs and 95% CI were estimated using multivariate analysis (logistic regression). Four hundred ninety-two PD patients (292 men and 200 women) and 459 controls (160 men and 299 women) were enrolled in the study. A positive history for head trauma was reported by 106 (21.5%) PD patients and by 62 (13.5%) healthy controls. Multivariate analysis (OR adjusted by age, sex, family history, coffee smoking, and alcohol consumption) showed a significant positive association between PD and head trauma with an adjusted OR of 1.50 (95%CI 1.04-2.17; p value 0.03). In agreement with literature data, our study supports the positive association between head trauma and PD.
- Published
- 2017
23. First report ofFIP1L1-PDGFRα-positive eosinophilic granulomatosis with polyangiitis : Fig. 1
- Author
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Roberto Marconi, Domenico Prisco, Augusto Vaglio, Roberto Marasca, Tiziana Fanelli, Valentina Carrai, Alessandro M. Vannucchi, Patrizia Zucchini, Lorenzo Emmi, Giacomo Emmi, and Elena Silvestri
- Subjects
Fip1l1 pdgfrα ,Pathology ,medicine.medical_specialty ,business.industry ,Hypereosinophilic syndrome ,Treatment outcome ,Churg-strauss syndrome ,medicine.disease ,Rheumatology ,Eosinophilic ,Medicine ,Pharmacology (medical) ,Differential diagnosis ,business ,Granulomatosis with polyangiitis - Published
- 2015
24. A case of isolated syncope due to bilateral carotid artery dissection: a lesson from ancient Greece?
- Author
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Alberto Chiti, Simone Gallerini, Luca Marsili, Manuele Bartalucci, and Roberto Marconi
- Subjects
medicine.medical_specialty ,Neurology ,biology ,business.industry ,Syncope (genus) ,Dermatology ,General Medicine ,biology.organism_classification ,Surgery ,Ancient Greece ,Psychiatry and Mental health ,medicine ,Neurology (clinical) ,Neurosurgery ,business ,Bilateral carotid artery dissection ,Neuroradiology - Published
- 2014
25. Operationalizing mild cognitive impairment criteria in small vessel disease: The VMCI-Tuscany Study
- Author
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Antonio Giorgio, Stefano Magnolfi, Guido Gori, Laura Stromillo, Enza Zicari, Renato Galli, Patrizia Formichi, Emilia Salvadori, Francesca Cesari, Stefania Brotini, Roberto Marconi, Rossana Tassi, Alessandro Rossi, Luca Massacesi, Marco Vista, Serena Nannucci, Maria Boddi, Anna Maria Gori, Francesca Pescini, Veronica Caleri, Gloria Tognoni, Nicola De Stefano, Carlo Biagini, Renzo Cisbani, Sandro Marini, Stefania Boschi, Antonella Notarelli, Claudia Pozzi, Paola Vanni, Claudia Gambetti, Paolo Zolo, Carla Giorgi, Laura Bracco, Stefania Mugnai, Giovanni Pracucci, Tiziano Borgogni, Filippo Baldacci, Sandro Sorbi, Giuseppe Meucci, Domenico Inzitari, Giovanni Orlandi, Giovanna Bellini, Leonardo Pantoni, Ilaria Di Donato, Rosanna Abbate, Luciano Gabrielli, Laura Ciolli, Francesca Rossi, Francesco Pinto, Carlo Valente, Alberto Chiti, Ubaldo Bonuccelli, Cristina Frittelli, Gabriele Siciliano, Mario Mancuso, Massimo Cadelo, Antonio Federico, Gaetano Zaccara, Raffaella Valenti, Pasquale Palumbo, Stefano Bartolini, Paolo Cecchi, Stefano Diciotti, Andrea Ginestroni, Mario Mascalchi, Monica Mazzoni, Donatella Calvani, Luciano Gabbani, Anna Poggesi, Leonello Guidi, Maria Lombardi, Maristella Piccininni, Marco Paganini, Marco Pasi, Enrico Mossello, Alessandro Tiezzi, Mirco Cosottini, Mirella Coppo, Maria Teresa Dotti, E Bertini, Betti Giusti, Lorella Lambertucci, G Gambaccini, Cristina Pagni, Alessandra Del Bene, Salvadori, Emilia, Poggesi, Anna, Valenti, Raffaella, Pracucci, Giovanni, Pescini, Francesca, Pasi, Marco, Nannucci, Serena, Marini, Sandro, Del Bene, Alessandra, Ciolli, Laura, Ginestroni, Andrea, Diciotti, Stefano, Orlandi, Giovanni, Di Donato, Ilaria, De Stefano, Nicola, Cosottini, Mirco, Chiti, Alberto, Federico, Antonio, Dotti, Maria Teresa, Bonuccelli, Ubaldo, Inzitari, Domenico, and Pantoni, Leonardo
- Subjects
Male ,Epidemiology ,Cerebrovascular disease ,Cognitive aging ,Mild cognitive impairment ,Neuropsychology ,Vascular dementia ,Health Policy ,Developmental Neuroscience ,Geriatrics and Gerontology ,Neurology (clinical) ,Cellular and Molecular Neuroscience ,Psychiatry and Mental Health ,Neuropsychological Tests ,0302 clinical medicine ,Prospective Studies ,030212 general & internal medicine ,Prospective cohort study ,medicine.diagnostic_test ,Magnetic Resonance Imaging ,White Matter ,Temporal Lobe ,medicine.anatomical_structure ,Italy ,Disease Progression ,Cardiology ,Female ,Psychology ,medicine.medical_specialty ,Prodromal Symptoms ,behavioral disciplines and activities ,Temporal lobe ,White matter ,03 medical and health sciences ,Atrophy ,Neuroimaging ,Internal medicine ,mental disorders ,medicine ,Humans ,Cognitive Dysfunction ,Psychiatry ,Aged ,Magnetic resonance imaging ,medicine.disease ,nervous system diseases ,Cerebrovascular Disorders ,human activities ,030217 neurology & neurosurgery - Abstract
Introduction Mild cognitive impairment (MCI) prodromic of vascular dementia is expected to have a multidomain profile. Methods In a sample of cerebral small vessel disease (SVD) patients, we assessed MCI subtypes distributions according to different operationalization of Winblad criteria and compared the neuroimaging features of single versus multidomain MCI. We applied three MCI diagnostic scenarios in which the cutoffs for objective impairment and the number of considered neuropsychological tests varied. Results Passing from a liberal to more conservative diagnostic scenarios, of 153 patients, 5% were no longer classified as MCI, amnestic multidomain frequency decreased, and nonamnestic single domain increased. Considering neuroimaging features, severe medial temporal lobe atrophy was more frequent in multidomain compared with single domain. Discussion Operationalizing MCI criteria changes the relative frequency of MCI subtypes. Nonamnestic single domain MCI may be a previously nonrecognized type of MCI associated with SVD.
- Published
- 2016
26. Minor Stroke and Thrombolysis: What Is in the Pipeline?
- Author
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Luca Marsili, Roberto Marconi, Manuele Bartalucci, Caterina Marotti, and Simone Gallerini
- Subjects
Nihss score ,medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Minor stroke ,Thrombolysis ,medicine.disease ,030218 nuclear medicine & medical imaging ,Surgery ,Mechanical thrombectomy ,03 medical and health sciences ,0302 clinical medicine ,Occlusion ,medicine ,Radiology, Nuclear Medicine and imaging ,In patient ,Letters ,cardiovascular diseases ,Neurology (clinical) ,business ,Stroke ,Acute ischemic stroke ,030217 neurology & neurosurgery - Abstract
We read with interest the article by Messer et al[1][1] regarding the clinical outcome after IV thrombolysis and/or mechanical thrombectomy in patients with acute ischemic stroke due to large-vessel occlusion, presenting as minor stroke syndrome (MSS) (NIHSS score < 5). The authors retrospectively
- Published
- 2017
27. Reproductive factors and Parkinson's disease: A multicenter case-control study
- Author
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Paolo Barone, Alessandra Nicoletti, Giuseppe Nicoletti, Paolo Lamberti, Autilia Cozzolino, Michele De Mari, Letterio Morgante, Roberto Marconi, A. Epifanio, Gennarina Arabia, Grazia Annesi, Mario Zappia, L Grasso, and Aldo Quattrone
- Subjects
medicine.medical_specialty ,Multivariate analysis ,medicine.medical_treatment ,Logistic regression ,Contraceptives, Oral, Hormonal ,Surgical Menopause ,Pregnancy ,Risk Factors ,Surveys and Questionnaires ,Internal medicine ,Epidemiology ,medicine ,Humans ,Aged ,Leiomyoma ,business.industry ,Reproduction ,Estrogen Replacement Therapy ,Case-control study ,Estrogens ,Parkinson Disease ,Hormone replacement therapy (menopause) ,Middle Aged ,medicine.disease ,Logistic Models ,Italy ,Neurology ,Case-Control Studies ,Multivariate Analysis ,Uterine Neoplasms ,Physical therapy ,Menarche ,Female ,Neurology (clinical) ,Menopause ,business - Abstract
Background: The objective of this study was to evaluate the possible association between endogenous and exogenous estrogens and Parkinson's disease (PD). Methods: The FRAGAMP study is a large Italian multicenter case–control study. PD was diagnosed according to Gelb's criteria. A standardized questionnaire was administered to record demographic, epidemiological, and clinical data. Adjusted ORs and 95% CIs were estimated using multivariate analysis (logistic regression). Results: Two hundred PD women (mean age, 68.0 ± 9.5 years) and 299 control women (mean age, 61.8 ± 9.9 years) were enrolled in the study. Age at menarche, age at menopause, fertile life duration, cumulative duration of pregnancies, hormone replacement therapy, and surgical menopause were not significantly associated with PD. Multivariate analysis showed a significant positive association between use of oral contraceptives and PD, with an adjusted OR of 3.27 (95% CI, 1.24–8.59; P = .01). Conclusions: Our data suggest that oral contraceptives could increase the risk of PD. © 2011 Movement Disorder Society
- Published
- 2011
28. Wine drinking and essential tremor: A possible protective role
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Alessandra Nicoletti, Paolo Barone, Donatella Contrafatto, Letterio Morgante, Paolo Lamberti, Roberto Marconi, Giovanni Mostile, Roberto Cappellani, Mario Zappia, Aldo Quattrone, and Gennarina Arabia
- Subjects
medicine.medical_specialty ,Multivariate analysis ,medicine.diagnostic_test ,Essential tremor ,business.industry ,Case-control study ,Neurological examination ,Odds ratio ,Neurological disorder ,medicine.disease ,Confidence interval ,Surgery ,Neurology ,Internal medicine ,Epidemiology ,Medicine ,Neurology (clinical) ,business - Abstract
The purpose of this study was to evaluate the possible association of cigarette smoking, coffee drinking, and wine consumption with essential tremor using a matched case-control design. Cases and controls were enrolled from 6 Movement Disorder centers in central-southern Italy. Essential tremor was diagnosed according to Bain's criteria. Three unrelated healthy controls (not affected by neurological disorders) per each enrolled case, matched by sex and age (± 5 years), were selected. A standardized questionnaire was administered to record demographic, epidemiological, and clinical data. All cases and controls underwent a standard neurological examination. Adjusted odds ratios and 95% confidence intervals were estimated using conditional logistic regression for the matched cases and controls. Eighty-three patients with essential tremor (38 men and 45 women; mean age, 68.2 ± 8.6 years) and 245 matched control subjects (113 men and 132 women; mean age, 68.4 ± 9.7 years) were enrolled in the study. Multivariate analysis showed a significant negative association between essential tremor and wine consumption preceding the onset of disease (adjusted odds ratio, 0.23; 95% confidence interval, 0.08-0.64; P = .0005) with a significant dose effect (1-2 glass of wine per day: odds ratio, 0.32; 95% confidence interval, 0.10-0.95; P = .04; more than 3 glass of wine per day: odds ratio, 0.14; 95% confidence interval, 0.03-0.62; P = .01). In our sample no association between essential tremor and cigarette smoking or coffee drinking was found. Our data suggest a negative association between wine drinking and essential tremor, which could be explained by the long-term neuroprotective effect of its antioxidant components.
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- 2011
29. The FRAGAMP study: environmental and genetic factors in Parkinson’s disease, methods and clinical features
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Letterio Morgante, Alessandra Nicoletti, Aldo Quattrone, Autilia Cozzolino, Giuseppina Torchia, Pierfrancesco Pugliese, Giuseppe Nicoletti, Mario Zappia, Simone Gallerini, Paolo Barone, Michele De Mari, Roberto Marconi, Grazia Annesi, Paolo Lamberti, A. Epifanio, and Gennarina Arabia
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Male ,medicine.medical_specialty ,Levodopa ,Pediatrics ,Neurology ,Parkinson's disease ,Dermatology ,Disease ,Environment ,Severity of Illness Index ,Antiparkinson Agents ,Surveys and Questionnaires ,Epidemiology ,medicine ,Humans ,Genetic Predisposition to Disease ,Spouses ,Aged ,Dyskinesias ,Geography ,business.industry ,Case-control study ,Parkinson Disease ,Sequence Analysis, DNA ,General Medicine ,Middle Aged ,Control subjects ,medicine.disease ,Psychiatry and Mental health ,Italy ,Case-Control Studies ,Dopamine Agonists ,Female ,Neurology (clinical) ,Neurosurgery ,business ,medicine.drug - Abstract
The Fattori di Rischio Ambientali e Genetici Associati alla Malattia di Parkinson (FRAGAMP) study is a multicenter case-control study carried out to evaluate the possible role of environmental and genetic factors in Parkinson's disease (PD). Cases and controls were enrolled from five Movement Disorder centers in Central-Southern Italy. PD was diagnosed according to Gelb's criteria while the control groups consisted of the spouses of the enrolled patients or of healthy controls matched by age and area of residence. Cases and controls underwent a standardised questionnaire and a blood sample was taken for molecular analyses. At the end of the study 585 cases and 481 control subjects (287 spouse-controls and 194 generic-controls) were enrolled. Patients had a Hoehn-Yahr score of 2.3 +/- 0.8; 85% of them took levodopa and 47% had motor complications. The FRAGAMP study represents one of the largest case-control studies carried out in Europe to investigate the possible role of environmental and genetic factors in PD.
- Published
- 2009
30. Silyl-Terminated Ethylene-co -Norbornene Copolymers by Organotitanium-Based Catalysts
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Andrea Ravasio, Roberto Marconi, Incoronata Tritto, and Laura Boggioni
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Ethylene ,Polymers and Plastics ,Silylation ,Organic Chemistry ,Heteroatom ,Chain transfer ,Silane ,End-group ,chemistry.chemical_compound ,chemistry ,Polymer chemistry ,Materials Chemistry ,Copolymer ,Norbornene - Abstract
Ethylene (E) and norbornene (N) were copolymerized in the presence of PhSiH(3) as chain-transfer agent with [Ti(η(5) :η(1) -C(5) Me(4) SiMe(2) NBu(t) )(η(1) -Me)(2) ] precatalyst combined with [Ph(3) C][B(C(6) F(5) )(4) ]. The silane was introduced at chain-ends of E-co-N copolymers with concomitant reinitiation of the growing polymer chain. The concentrations of the silane and polymer molecular weight are inversely correlated. The characteristic signals of SiH(2) Ph chain-ends were observed by (1) H NMR. The Si heteroatom is predominantly adjacent to ethylene units in E-co-N copolymers with high N content.
- Published
- 2008
31. Familial Hemiplegic Migraine Type 2 does not Share Hypersensitivity to Nitric Oxide with Common Types of Migraine
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Jes Olesen, Roberto Marconi, LL Thomsen, Giorgio Casari, Jakob Møller Hansen, Messoud Ashina, Hansen, Jm, Thomsen, Ll, Marconi, R, Casari, GIORGIO NEVIO, Olesen, J, and Ashina, M.
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Adult ,Male ,Middle Cerebral Artery ,Genotype ,Vasodilator Agents ,Migraine with Aura ,Blood Pressure ,Nitric Oxide ,Nitroglycerin ,Heart Rate ,medicine.artery ,Heart rate ,Humans ,Medicine ,Cyclic GMP ,Familial hemiplegic migraine ,business.industry ,Area under the curve ,General Medicine ,Middle Aged ,medicine.disease ,Superficial temporal artery ,Temporal Arteries ,Transcranial Doppler ,Blood pressure ,Migraine ,Cerebrovascular Circulation ,Anesthesia ,Middle cerebral artery ,Female ,Neurology (clinical) ,Sodium-Potassium-Exchanging ATPase ,business ,Blood Flow Velocity - Abstract
Familial hemiplegic migraine type 2 (FHM-2) and common types of migraine show phenotypic similarities which may indicate a common neurobiological background. The nitric oxide-cyclic guanosine monophosphate (NO-cGMP) pathway plays a crucial role in migraine pathophysiology. Therefore, we tested the hypothesis that ATP1A2 mutations in patients with FHM-2 are associated with hypersensitivity to NO-cGMP pathway. Eight FHM-2 patients with R202Q, R763C, V138A and L764P mutations and nine healthy controls received intravenous infusions of 0.5 μgkg−1 min−1 glyceryl trinitrate (GTN) over 20 min. We recorded the following variables: headache intensity on a verbal rating scale; mean flow velocity in the middle cerebral artery (VmeanMCA) by transcranial Doppler; diameter of the superficial temporal artery (STA) by ultrasound. The primary end-points were differences in incidence of migraine headache and area under the curve (AUC) for headache score during an immediate phase (0-120 min) and a delayed phase (2-14 h) after start of infusion. We found no difference in the incidence of reported migraine between FHM-2 patients, 25% (two out of eight), and controls, 0% (0 out of nine) (95% confidence interval −0.06, 0.56) ( P = 0.21). The AUCheadache in the immediate ( P = 0.37) and delayed ( P = 0.09) phase was not different between patients and controls. The GTN infusion resulted in a biphasic response in patients. During the immediate phase, the median peak headache occurred at 30 min and tended to be higher in patients, 1 (0, 3.8), than in controls, 0 (0, 1) ( P = 0.056). During the delayed phase, the median peak headache occurred 4 h after the start of the infusion and was significantly higher in patients, 2.5 (0, 3), than in controls, 0 (0, 0) ( P = 0.046). We found no difference in the AUCVmeanMCA ( P = 0.77) or AUCSTA ( P = 0.53) between FHM-2 patients and controls. GTN infusion failed to induce more migraine in FHM-2 patients than in controls. The pathophysiological pathways underlying migraine headache in FHM-2 may be different from the common types of migraine.
- Published
- 2008
32. Resenha: A educadora Maria Laura Mouzinho Leite Lopes o seu olhar para o futuro
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Costa, Cesar Roberto Marconi da, primary
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- 2017
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33. The arginine growth hormone stimulation test in bradykinetic-rigid parkinsonisms
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Mariachiara Sensi, A. Epifanio, M. Manfredi, Paolo Barone, Rosario Pivonello, T. Scaravilli, Ubaldo Bonuccelli, Roberto Eleopra, Alfredo Petrone, Letterio Morgante, Giovanni Cossu, Roberto Marconi, Edoardo Donati, Giovanni Abbruzzese, Katia Longo, Roberta Marchese, Maria Teresa Pellecchia, Annamaria Colao, and Claudio Lucetti
- Subjects
medicine.medical_specialty ,Arginine ,Growth hormone stimulation test ,business.industry ,Arginine test ,Parkinsonism ,Stimulation ,Growth hormone ,medicine.disease ,eye diseases ,nervous system diseases ,Endocrinology ,Atrophy ,stomatognathic system ,Neurology ,Internal medicine ,Medicine ,Neurology (clinical) ,Analysis of variance ,business - Abstract
The arginine growth hormone (GH) stimulation test differentiates the Parkinsonian variant of multiple system atrophy (MSA-P) from idiopathic Parkinson's disease (PD). Our aim was to evaluate the accuracy of the arginine GH stimulation test in distinguishing between PSP, MSA-P, and PD. We measured the GH response to arginine in serum samples of 26 MSA-P, 23 PSP, and 26 PD patients, and in 80 healthy controls. We used ANOVA followed by the Bonferroni test to compare GH values and peaks among groups. We used receiver operating characteristic curve analysis to establish the arginine cut-off level that best differentiated between MSA-P, PSP, and PD. The GH peak was significantly lower (P < 0.01) in MSA-P (1.46 ± 0.29 μg/L) than in both PD (8.74 ± 0.98 μg/L) and PSP (6.64 ± 0.82 μg/L) patients, and controls (8.59 ± 0.44 μg/L). Growth hormone peaked later in PSP patients than in PD patients and controls. At a cut-off level of 4 μg/L, arginine test distinguished MSA-P from PD with a sensitivity of 92% and a specificity of 96%, and MSA-P from PSP with a sensitivity of 78% and a specificity of 96%. The GH response to arginine differentiates MSA-P from PD and PSP with a good diagnostic accuracy. The neuroendocrine response to arginine of PSP patients differed from that of MSA-P patients, but was not identical to that of normal controls and PD patients. Our results suggest that the impairment of the central mechanisms modulating GH release differs between PSP and MSA-P. © 2007 Movement Disorder Society
- Published
- 2007
34. Quetiapine and Clozapine in Parkinsonian Patients With Dopaminergic Psychosis
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Antonio E. Di Rosa, A. Epifanio, Edoardo Spina, Letterio Morgante, Giorgio Basile, Giorgio Di Raimondo, Roberto Marconi, Aldo Quattrone, Mario Zappia, and Paolo La Spina
- Subjects
Male ,Dibenzothiazepines ,Dyskinesia, Drug-Induced ,Psychosis ,medicine.medical_specialty ,Time Factors ,Motor Activity ,Neuropsychological Tests ,law.invention ,Quetiapine Fumarate ,Randomized controlled trial ,law ,Brief Psychiatric Rating Scale ,medicine ,Humans ,Pharmacology (medical) ,Psychiatry ,Clozapine ,Aged ,Pharmacology ,Parkinson Disease ,Middle Aged ,medicine.disease ,Treatment Outcome ,Psychotic Disorders ,Dyskinesia ,Anesthesia ,Dopamine Agonists ,Clinical Global Impression ,Drug Evaluation ,Quetiapine ,Female ,Neurology (clinical) ,medicine.symptom ,Psychology ,Antipsychotic Agents ,medicine.drug - Abstract
OBJECTIVE This study aimed to compare the efficacy and safety of quetiapine and clozapine in parkinsonian patients with dopaminergic psychosis in a randomized, open-label, blinded-rater, parallel group trial. METHODS Forty-five patients with Parkinson disease (PD) and psychosis induced by antiparkinsonian drugs were randomly assigned to receive either quetiapine or clozapine. The duration of the trial was 12 weeks. Forty patients, 20 in each treatment group, completed the study. The final dose of quetiapine (mean +/- SD) was 91 +/- 47 mg/d and that of clozapine 26 +/- 12 mg/d. The severity of psychosis was assessed using the Brief Psychiatric Rating Scale (BPRS) and the Clinical Global Impression Scale-Severity Subscale (CGI-S). The Unified Parkinson's Disease Rating Scale (UPDRS) III was used to assess motor conditions during the study period. The Abnormal Involuntary Movement Scale (AIMS) was performed to evaluate dyskinesias. RESULTS Forty patients, 20 on clozapine and 20 on quetiapine, completed the study. The psychopathologic state improved significantly (P < 0.001) from baseline in both treatment groups. No differences were found between clozapine and quetiapine at any assessment time. Motor conditions remained unchanged after clozapine and quetiapine. Dyskinesias decreased significantly (P < 0.05) in both groups. Side effects were mild, generally transient, and well tolerated. CONCLUSIONS Quetiapine and clozapine appear equally efficacious for treatment of dopaminergic psychosis in patients with PD.
- Published
- 2004
35. Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23
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Giuseppe De Michele, Letterio Morgante, Katrin Plewnia, Maja Rossi, Sadia Carapelli, Giorgio Casari, Paolo Aridon, Maurizio De Fusco, Roberto Marconi, Rosa Musolino, Giuseppe Micieli, Andrea Ballabio, A. Epifanio, Marconi, R, De Fusco, M, Aridon, P, Plewnia, K, Rossi, M, Carapelli, S, Ballabio, A, Morgante, L, Musolino, R, Epifanio, A, Micieli, G, De Michele, G, and Casari, GIORGIO NEVIO
- Subjects
Adult ,Male ,Adolescent ,Genetic Linkage ,Migraine with Aura ,Locus (genetics) ,Genetic determinism ,Genetic linkage ,ATP1A2 ,Chromosome 19 ,Humans ,Medicine ,Child ,Familial hemiplegic migraine ,Aged ,Aged, 80 and over ,Genetics ,business.industry ,Chromosome Mapping ,Chromosome ,Middle Aged ,medicine.disease ,Pedigree ,Neurology ,Chromosomes, Human, Pair 1 ,Mutation ,Mutation testing ,Female ,Neurology (clinical) ,Lod Score ,business ,Neuroscience - Abstract
Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed by headache. Two chromosomal loci are associated to FHM: FHM1 on chromosome 19 and FHM2 on chromosome 1q21-23. Mutations of the alpha-1A subunit of the voltage gated calcium channel (CACNA1A) are responsible for FHM1. FHM2 critical region spans 28 cM, hence hampering the identification of the responsible gene. Here, we report the FHM2 locus refining by linkage analysis on two large Italian families affected by pure FHM. The new critical region covers a small area of 0.9Mb in 1q23 and renders feasible a positional candidate approach. By mutation analysis, we excluded the calsequestrin and two potassium channel genes mapping within the narrowed FHM2 locus.
- Published
- 2003
36. Letter by Gallerini et al Regarding Article, 'Characteristics and Outcomes of Patients With Multiple Cervical Artery Dissection'
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Manuele Bartalucci, Simone Gallerini, and Roberto Marconi
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Male ,Vertebral Artery Dissection ,Advanced and Specialized Nursing ,medicine.medical_specialty ,business.industry ,Cervical Artery ,Vertebral artery dissection ,General surgery ,Carotid Artery, Internal, Dissection ,Dissection (medical) ,medicine.disease ,Surgery ,Embolism ,Ischemic stroke ,medicine ,Humans ,Female ,Neurology (clinical) ,Good outcome ,Cardiology and Cardiovascular Medicine ,business ,Stroke - Abstract
We read with great interest the study of Bejot et al1 evaluating the characteristics and outcomes of patients with single and multiple cervical artery dissection (CeAD). In particular, good outcome (with only 12% of moderate-to-severe handicap at 3 months and none had died) was observed irrespectively of single or multiple vessel involvement. As major ischemic stroke because of artery-to-artery embolism is reasonably the main cause of disability in such patients and its prevention with antithrombothic therapy is considered effective,2 early diagnosis of dissection plays a key role to administer proper therapy, to prevent major stroke, and to reduce long-term disability. Thus an efficient …
- Published
- 2014
37. Early DEtection of wEaring off in Parkinson disease: the DEEP study
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Stocchi, F, Antonini, A, Barone, P, Tinazzi, M, Zappia, M, Onofrj, M, Ruggieri, S, Morgante, L, Bonuccelli, U, Lopiano, L, Pramstaller, P, Albanese, A, Attar, M, Posocco, V, Colombo, D, Abbruzzese, G, Fabrizio, Stocchi, Laura, Vacca, Peter, P Pramstaller, Maurizio, Facheris, Mario, Guidotti, Elisabetta, Mario, Giulio, Riboldazzi, Serena, Leva, Alberto, Priori, Gianni, Pezzoli, Canesi, Margherita, Albanese, Alberto, Paola, Soliveri, Daniele, Picco, Fabrizio, Pisano, Leonardo, Scarzella, Alessia, Tavella, Leonardo, Lopiano, Maurizio, Zibetti, Michele, Tinazzi, Sarah, Ottaviani, Franco, Valzanìa, Sara, Contardi, Rocco, Quatrale, Mariachiara, Sensi, Roberto, Ceravolo, Carlo, Rossi, Massimo, Cincotta, Paola, Vanni, Ubaldo, Bonuccelli, Paolo Del Dotto, Maria Gabriella Ceravolo, Marianna, Capecci, Roberta, Marchese, Tiziano, Tamburini, Astrid, Thomas, Iole, Borrelli, Roberto, Marconi, Lucia, Grasso, Paolo, Stanzione, Valerio, Pisani, Anna Rita Bentivoglio, Giovanna, Lorìa, Maria Francesca De Pandis, Giovanna, Federici, Valentino, Manzo, Mauro, ALFONSO WILLIAM, Barone, Paolo, Marina, Picillo, Stefano, Ruggieri, Nicola, Modugno, Paolo, Lamberti, Claudia, Dell'Aquila, Giulio, Cicarelli, Aldo, Quattrone, Giuseppe, Nicoletti, Antonino, Cannas, Paolo, Solla, Mario, Zàppia, Alessandra, Nicoletti, Letterio, Morgante, Francesca, Morgante, Marco, D'Amelio, Valeria, Terruso, Roberto, Eleopra, Marco, Mucchiut, Manuela, Pilleri, Biundo, Roberta, Stefania, Nassetti, and Roberto, Michelucci
- Published
- 2014
38. A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe
- Author
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Roberto Marconi, Bouley S, Emmanuel Broussolle, De Michele G, Alexis Brice, Alessandro Filla, Ben A. Oostra, Alexandra Durr, Patrice Denefle, Biswadjiet S. Harhangi, Nicholas W. Wood, C. B. Lücking, Yves Agid, Edito Fabrizio, Bonifati, Giuseppe Meco, Laurent Pradier, Vaughan, Nacer Abbas, Thomas Gasser, Ricard S, Georg Andrees Bohme, Christine Brefel-Courbon, Epidemiology, and Clinical Genetics
- Subjects
Genetics ,Mutation ,Point mutation ,Nonsense mutation ,General Medicine ,Biology ,medicine.disease_cause ,Parkin ,nervous system diseases ,Exon ,Genotype ,medicine ,Missense mutation ,Age of onset ,Molecular Biology ,Genetics (clinical) - Abstract
Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment and levodopa-induced dyskinesias, The gene responsible for AR-JP was recently identified and designated parkin, We have analysed the 12 coding exons of the parkin gene in 35 mostly European families with early onset autosomal recessive parkinsonism. In one family, a homozygous deletion of exon 4 could be demonstrated. By direct sequencing of the exons in the index patients of the remaining 34 families, eight previously undescribed point. mutations (homozygous or heterozygous) were detected in eight families that included 20 patients, The mutations segregated with the disease in the families and were not detected on 110-166 control chromosomes. Four mutations caused truncation of the parkin protein. Three were frameshifts (202-203delAG, 255delA and 321-322insGT) and one a nonsense mutation (Trp453Stop). The other four were missense mutations (Lys161Asn, Arg256Cys, Arg275Trp and Thr415Asn) that probably affect amino acids that are important for the function of the parkin protein, since they result in the same phenotype as truncating mutations or homozygous exon deletions. Mean age at onset was 38 +/- 12 years, but onset up to age 58 was observed. Mutations in the parkin gene are therefore not invariably associated with early onset parkinsonism. In many patients, the phenotype is indistinguishable from that of idiopathic PD. This study has shown that a wide variety of different mutations in the parkin gene are a common cause of autosomal recessive parkinsonism in Europe and that different types of point mutations seem to be more frequently responsible for the disease phenotype than are deletions.
- Published
- 1999
39. Subthalamic nucleus stimulation in Parkinson’s disease
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Andrea Landi, Roberto Marconi, and Franco Valzania
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Levodopa ,medicine.medical_specialty ,Neurology ,Parkinson's disease ,Deep brain stimulation ,Deep Brain Stimulation ,medicine.medical_treatment ,Humans ,Parkinson Disease ,Subthalamic Nucleus ,Dermatology ,Severity of illness ,medicine ,Pallidotomy ,Thalamotomy ,General Medicine ,medicine.disease ,nervous system diseases ,Psychiatry and Mental health ,Anesthesia ,Physical therapy ,Neurology (clinical) ,Neurosurgery ,Psychology ,medicine.drug - Abstract
Deep brain stimulation (DBS) is an effective surgical treatment for advanced Parkinson's disease (PD), with significant advantages in morbidity-mortality and quality of life when compared to lesion techniques such as thalamotomy and/or pallidotomy. The procedure is indicated in patients with severe resting tremor, unresponsive to conventional medical treatment or with motor complications. The most commonly reported complications in the intra- and post-surgical period are aborted procedure, misplaced leads, intracranial haemorrhage, seizures and hardware complications, whereas in the long-term period, cognitive and psychiatric complications can be observed. The most important eligibility criteria for DBS are: a correct diagnosis of idiopathic PD, severity of illness, a consistent levodopa response and absence of cognitive impairment. Chronological age and mood disorders may be relative contraindications to be individually evaluated. Tremor, rigidity dystonias and dyskinesias improve dramatically after DBS; freezing, postural instability and falls remain unchanged, whereas verbal fluency and dysarthria are known to worsen.
- Published
- 2008
40. Chromosome 6–Linked Autosomal Recessive Early-Onset Parkinsonism: Linkage in European and Algerian Families, Extension of the Clinical Spectrum, and Evidence of a Small Homozygous Deletion in One Family
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Thomas De Broucker, Giuseppe De Michele, Vincenzo Bonifati, Nacer Abbas, Emmanuel Broussolle, Alexis Brice, Soraya Medjbeur, Johann Tassin, Anne-Marie Bonnet, Marie Vidailhet, Yves Agid, Roberto Marconi, Giuseppe Meco, Alexandra Durr, Michele De Mari, Pierre Pollak, and A. Filla
- Subjects
Genetics ,Linkage ,Autosomal recessive ,Haplotype ,Chromosome ,Locus (genetics) ,SOD2 ,Biology ,Chromosome 6 ,Genetic determinism ,Parkinson disease ,Deletion ,Genetic linkage ,Juvenile onset ,Microsatellite ,Genetics(clinical) ,Age of onset ,Gene ,Genetics (clinical) - Abstract
SummaryThe gene for autosomal recessive juvenile Parkinsonism (AR-JP) recently has been mapped to chromosome 6q25.2–27 in Japanese families. We have tested one Algerian and 10 European multiplex families with early-onset Parkinson disease for linkage to this locus, with marker D6S305. Homogeneity analysis provided a conditional probability in favor of linkage of >.9 in eight families, which were analyzed further with eight microsatellite markers spanning the 17-cM AR-JP region. Haplotype reconstruction for eight families and determination of the smallest region of homozygosity in two consanguineous families reduced the candidate interval to 11.3 cM. If the deletion of two microsatellite markers (D6S411 and D6S1550) that colocalize on the genetic map and that segregate with the disease in the Algerian family is taken into account, the candidate region would be reduced to
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- 1998
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41. Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease
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Massimo Zeviani, Roberto Marconi, Patricio Fernandez, Alessandro Filla, Alexandre Dürr, Bertrand Fontaine, Andrea Ballabio, Marina Mora, Sonia Ciarmatori, Sergio Cocozza, Giorgio Casari, Maurizio De Fusco, Giuseppe De Michele, G., Casari, M. D., Fusco, S., Ciarmatori, M., Zeviani, M., Mora, P., Fernandez, DE MICHELE, Giuseppe, Filla, Alessandro, Cocozza, Sergio, R., Marconi, A., Dürr, B., Fontaine, Ballabio, Andrea, Casari, GIORGIO NEVIO, De Fusco, M, Ciarmatori, S, Zeviani, M, Mora, M, Fernandez, P, De Michele, G, Filla, A, Cocozza, S, Marconi, R, Durr, A, Fontaine, B, Ballabio, A., Casari, G, and DE FUSCO, M
- Subjects
Male ,pathology, Oxidative Phosphorylation, Pedigree, RNA ,Messenger ,Sequence Homology ,Mitochondrion ,Adult, Amino Acid Sequence, Cell Nucleu ,Spastin ,Molecular, DNA ,Oxidative Phosphorylation ,Yeasts ,Complementary ,genetics, Female, Fetus, Frameshift Mutation ,Spastic Paraplegia ,Cloning, Molecular ,Frameshift Mutation ,Inner mitochondrial membrane ,Genetics ,Paraplegin ,Neurodegeneration ,Metalloendopeptidases ,Amino Acid, Spastic Paraplegia ,Skeletal ,Mitochondria ,Pedigree ,genetics, Cloning ,Amino Acid ,Hereditary ,Italy ,Muscle ,Female ,Chromosome Deletion ,DNA, Sequence Homology ,Sequence Analysis ,Human ,enzymology/genetics/pathology, Yeast ,Adult ,DNA, Complementary ,genetics, Chromosome Deletion, Chromosome ,Hereditary spastic paraplegia ,enzymology ,Molecular Sequence Data ,Biology ,Chromosomes ,General Biochemistry, Genetics and Molecular Biology ,Frameshift mutation ,Fetus ,medicine ,Humans ,RNA, Messenger ,Amino Acid Sequence ,Muscle, Skeletal ,Gene ,Cell Nucleus ,Sequence Homology, Amino Acid ,Spastic Paraplegia, Hereditary ,Pair 16 ,Biochemistry, Genetics and Molecular Biology(all) ,Molecular ,enzymology, Molecular Sequence Data, Muscle ,Sequence Analysis, DNA ,DNA ,genetics, Mitochondria ,medicine.disease ,Molecular biology ,genetics, Humans, Italy, Male, Metalloendopeptidase ,analysis, Sequence Analysi ,ATPases Associated with Diverse Cellular Activities ,RNA ,Chromosomes, Human, Pair 16 ,Cloning - Abstract
Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. We found that patients from a chromosome 16q24.3–linked HSP family are homozygous for a 9.5 kb deletion involving a gene encoding a novel protein, named Paraplegin. Two additional Paraplegin mutations, both resulting in a frameshift, were found in a complicated and in a pure form of HSP. Paraplegin is highly homologous to the yeast mitochondrial ATPases, AFG3, RCA1, and YME1, which have both proteolytic and chaperon-like activities at the inner mitochondrial membrane. Immunofluorescence analysis and import experiments showed that Paraplegin localizes to mitochondria. Analysis of muscle biopsies from two patients carrying Paraplegin mutations showed typical signs of mitochondrial OXPHOS defects, thus suggesting a mechanism for neurodegeneration in HSP-type disorders.
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- 1998
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42. A ?combined? levodopa test as a useful method for evaluating the efficacy of dopamine agonists: Application to pergolide and bromocriptine
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Yves Agid, Roberto Marconi, Bruno Dubois, I. Serre, and A. M. Bonnet
- Subjects
Agonist ,Dyskinesia, Drug-Induced ,Levodopa ,medicine.drug_class ,Antiparkinson Agents ,Central nervous system disease ,Dopamine ,medicine ,Humans ,Habituation ,Bromocriptine ,Aged ,Pergolide ,Parkinson Disease ,Middle Aged ,medicine.disease ,Crossover study ,nervous system diseases ,Neurology ,Anesthesia ,Dopamine Agonists ,Drug Therapy, Combination ,Neurology (clinical) ,Psychology ,medicine.drug - Abstract
The efficacy of pergolide as adjunct to levodopa therapy was compared to that of bromocriptine in 12 parkinsonian patients with fluctuating motor disability and levodopa-induced dyskinesias (mean age of onset, 50.6 +/- 8 years; Hoehn and Yahr stage between II and IV; mean basal UPDRS motor score, 30.6 +/- 8.6), in a double-blind crossover study. After an 8-day habituation to each agonist, an acute challenge of a supraliminal dose of levodopa ("levodopa test") was performed in association with either 1 mg pergolide or 10 mg bromocriptine. The delay to onset and the duration of therapeutic benefit, the percentage improvement in motor disability, and the severity of onset and peak-dose dyskinesias were evaluated. Both agonists significantly increased the duration of therapeutic benefit, but pergolide more so than bromocriptine (p = 0.02). Pergolide also tended to reduce the severity of dyskinesias and was globally perceived by the patients to be more efficacious than bromocriptine on parkinsonian symptoms and fluctuations. This study illustrated the usefulness of the "levodopa test" in evaluating, objectively, the effects of dopamine agonists.
- Published
- 1995
43. The progression of non-motor symptoms in Parkinson's disease and their contribution to motor disability and quality of life
- Author
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Angelo, Antonini, Paolo, Barone, Roberto, Marconi, Letterio, Morgante, Salvatore, Zappulla, Pontieri, FRANCESCO ERNESTO, Silvia, Ramat, Maria Gabriella Ceravolo, Meco, Giuseppe, Giulio, Cicarelli, Massimo, Pederzoli, Michela, Manfredi, Roberto, Ceravolo, Mucchiot, M., Giampiero, Volpe, Giovanni, Abbruzzese, Edo, Bottacchi, Luigi, Bartolomei, Giuseppe, Ciacci, Antonino, Cannas, Maria Giovanna Randisi, Alfredo, Petrone, Mario, Baratti, Vincenzo, Toni, Giovanni, Cossu, Del Dotto, P., Anna Rita Bentivoglio, Michele, Abrignani, Rossana, Scala, Franco, Pennisi, Rocco, Quatrale, Rosa Maria Gaglio, Zappia, M., Michele, Perini, Tania, Avarello, Stanzione, P., Augusto, Scaglioni, Paolo Emilio Martinelli, Francesco, Iemolo, Laura, Ferigo, Pasqualino, Simone, Soliveri, L., Troianello, B., Domenico, Consoli, Alessandro, Mauro, Leonardo, Lopiano, Giuseppe, Nastasi, Colosimo, Carlo, and Behalf Of The Priamo Study Group, O. N.
- Subjects
Male ,medicine.medical_specialty ,Neurology ,Parkinson's disease ,Non-motor symptoms ,Neurological disorder ,Central nervous system disease ,Cohort Studies ,Disability Evaluation ,Cognition ,Quality of life ,Internal medicine ,medicine ,80 and over ,Humans ,Apathy ,Prospective Studies ,Mortality ,Motor progression ,Prospective cohort study ,Aged ,Aged, 80 and over ,Motor Skills Disorders ,Disease Progression ,Quality of Life ,Cross-Sectional Studies ,Parkinson Disease ,Follow-Up Studies ,Middle Aged ,Female ,parkinson's disease ,mortality ,quality of life ,cognition ,motor progression ,non-motor symptoms ,business.industry ,medicine.disease ,Physical therapy ,Parkinson’s disease ,Settore MED/26 - Neurologia ,Neurology (clinical) ,medicine.symptom ,business ,Motor deterioration - Abstract
Non-motor symptoms are gaining relevance in Parkinson's disease (PD) management but little is known about their progression and contribution to deterioration of quality of life. We followed prospectively 707 PD patients (62 % males) for 2 years. We assessed non-motor symptoms referred to 12 different domains, each including 1-10 specific symptoms, as well as motor state (UPDRS), general cognition, and life quality. HoehnYahr (HY) stage was used to categorize patient status (I-II mild; III moderate; IV-V severe). We found that individual non-motor symptoms had variable evolution over the 2-year follow-up with sleep, gastrointestinal, attention/memory and skin disturbances (hyperhidrosis and seborrhea) becoming more prevalent and psychiatric, cardiovascular, and respiratory disorders becoming less prevalent. Development of symptoms in the cardiovascular, apathy, urinary, psychiatric, and fatigue domains was associated with significant life-quality worsening (p0.0045, alpha with Bonferroni correction). During the observation period, 123 patients (17 %) worsened clinically while 584 were rated as stable. There was a fivefold greater increase in UPDRS motor score in worse compared with stable patients over 24 months (p0.0001 vs. baseline both in stable and worse group). The total number of reported non-motor symptoms increased over 24 months in patients with motor worsening compared to stable ones (p0.001). Thirty-nine patients died (3.4 % of patients evaluable at baseline) with mean age at death of 74 years. Deceased patients were older, had significantly higher HY stage and motor score, and reported a greater number of non-motor symptoms at baseline. In conclusion, overall non-motor symptom progression does not follow motor deterioration, is symptom-specific, and only development of specific domains negatively impacts quality of life. These results have consequences for drug studies targeting non-motor features.
- Published
- 2012
44. The validity and reliability of the Italian Olfactory Identification Test (IOIT) in healthy subjects and in Parkinson's disease patients
- Author
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Giuseppe Meco, Paolo Calabresi, Bruno Fattori, Giuseppe Rossi, Roberto Marconi, Paola Vanni, Palma Serra, Alessandro Napolitano, Silvia Ramat, Carlo Maremmani, Michela Zanetti, Carlo Purcaro, Maila Coltelli, Nicola Tambasco, Massimo Orsini, Aroldo Rossi, Patrizia Piersanti, and Aldo Pieroni
- Subjects
Olfactory system ,Adult ,Male ,Pathology ,medicine.medical_specialty ,smell identification test ,Parkinson's disease ,Validity ,Audiology ,Olfaction Disorders ,medicine ,Humans ,italian olfactory identification test ,Aged ,Case-control study ,Healthy subjects ,Reproducibility of Results ,Parkinson Disease ,Middle Aged ,medicine.disease ,Test (assessment) ,Identification (information) ,Neurology ,Italy ,Case-Control Studies ,parkinson's disease ,Odorants ,Female ,Neurology (clinical) ,Geriatrics and Gerontology ,Psychology ,Italian culture - Abstract
Olfactory function can be rapidly evaluated by means of standardized olfactory tests. Multiple-choice smell identification tests can be conditioned by cultural background. To investigate a new tool for detecting olfactory deficit in Italian subjects we developed a multiple-choice identification test prepared with odorants belonging to the Italian culture.The Italian Olfactory Identification Test (IOIT) was developed with 33 microencapsulated odorants with intensity of odors and headspace Gas Chromatography being tested. Test-retest reliability of the IOIT was evaluated. The IOIT was administered to 511 controls and 133 Parkinson's patients.In healthy subjects the number of IOIT errors increased with age for both females (p0.0001) and males (p0.0001), while in the Parkinson's disease group the number of IOIT errors was significantly greater where compared to healthy subjects (p0.0001 in all age groups). The reference limits applied to all age groups revealed an IOIT sensitivity of 93% and a specificity of 99%. The test-retest reliability was excellent.The IOIT is highly reliable, disposable, easy to administer, not fragile, and has a long shelf-life. All these features make the IOIT suitable for clinical use as well as for population screening and to discriminate Parkinson's patients from healthy subjects.
- Published
- 2011
45. Terpolymerization of Linear and Alicyclic ±-Olefins with Norbornene and Ethylene by ansa-Metallocene Catalysts
- Author
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Andrea Ravasio, Laura Boggioni, Incoronata Tritto, Udo M. Stehling, Francesco Di Colo, and Roberto Marconi
- Subjects
chemistry.chemical_classification ,Reaction mechanism ,Olefin fiber ,Ethylene ,Polymers and Plastics ,Organic Chemistry ,Inorganic Chemistry ,Alicyclic compound ,chemistry.chemical_compound ,chemistry ,Sandwich compound ,Polymer chemistry ,Materials Chemistry ,Organic chemistry ,Ansa-metallocene ,Metallocene ,Norbornene - Abstract
Ethylene-norbornene (E-N) terpolymerization experiments using the linear olefin 1-octene (O) or the alicyclic vinylcyclohexane (VCH) were conducted with two different ansa-metallocene compounds Zr(?5 :?5 -C5H4CPh2C13H8)Cl2] (1) and [Zr{(?5 -2,5-Me2C5H2)2CHMe}Cl2] (2). The terpolymers obtained were investigated in detail by determining microstructure and termonomer contents by 13C NMR, molar masses, and thermal properties. Chain end group analysis gave insight into factors that influence termonomer insertion and chain termination. Terpolymer molar masses were lower than those of the corresponding copolymers, those from 1 being higher than those from 2. This is related to the lower tendency of catalyst 1 to give ?-H elimination at a last enchained E unit as revealed from the low amount of vinyl chain end groups in 1 H NMR spectra. In VCH terpolymers from catalyst 1, only vinylene end groups, arising from 2,1 VCH insertions after one last inserted E unit, are present. This along with the lower activity reveals that VCH insertion is more difficult with this catalyst than with catalyst 2. Furthermore, all experiments showed that in general VCH is more difficult to coordinate to an active catalyst than O. While catalyst 1 provides higher molar masses, catalyst 2 enables to reach higher activities, higher N and termonomer contents, and higher Tg values. Finally, it was found that termonomer content greater than 3 mol % clearly affects Tg values. Thus, preparation of norborneneethylene-R-olefin terpolymers with high Tg and attractive molar masses was achieved in high yield by metallocene catalysts.
- Published
- 2011
46. Association study between the LINGO1 gene and Parkinson's disease in the Italian population
- Author
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M. De Mari, Giusi Torchia, Federico Rocca, Patrizia Tarantino, Alessandra Nicoletti, Paolo Lamberti, Roberto Marconi, Grazia Annesi, Aldo Quattrone, Pierfrancesco Pugliese, EV De Marco, Mario Zappia, A. Epifanio, Simone Gallerini, Giuseppe Nicoletti, Paolo Barone, Gennarina Arabia, Autilia Cozzolino, Ferdinanda Annesi, and Letterio Morgante
- Subjects
Male ,Candidate gene ,Parkinson's disease ,Population ,Nerve Tissue Proteins ,Single-nucleotide polymorphism ,Biology ,Bioinformatics ,Polymorphism, Single Nucleotide ,Cohort Studies ,Genotype ,medicine ,Humans ,SNP ,Allele ,education ,LINGO1 ,Aged ,education.field_of_study ,Membrane Proteins ,Parkinson Disease ,Middle Aged ,medicine.disease ,Italy ,Neurology ,Immunology ,Female ,Neurology (clinical) ,Geriatrics and Gerontology ,Genome-Wide Association Study - Abstract
Some studies have suggested an overlap of clinical and genetic findings between essential tremor (ET) and Parkinson’s disease (PD). The first genome-wide association study in ET showed a significant association with the rs9652490 SNP of the leucine-rich repeat and Ig domain containing 1 (LINGO1) gene. Since patients with PD have higher LINGO1 expression levels compared to healthy controls, and animal models of PD show elevated LINGO1 protein levels after experimentally induced damage in the striatum, it can be inferred that LINGO1 is probably involved in PD pathophysiology. In this study, we performed a genetic association analysis of the rs9652490 and rs11856808 SNPs in Italian PD patients and controls to assess the role of these variants in our population. A total of 567 patients with PD and 468 control subjects were enrolled in five Movement Disorder centers located in Central-Southern Italy. Both variants were significantly associated with PD under a recessive model of inheritance before applying the Bonferroni correction. The GG genotype of rs9652490 and the TT genotype of rs11856808 were less frequent in patients than in controls, suggesting a protective effect against the disease. However, after stringent correction, only the P-values obtained from allele and genotype comparisons of the rs11856808 SNP remained significant. Our findings suggest that LINGO1 plays a certain role in the development of PD in the Italian population and represents an interesting candidate gene responsible for PD, due to its involvement in neurological processes.
- Published
- 2011
47. Epidemiology of multiple system atrophy
- Author
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Vincenzo Bonifati, Giuseppina Talarico, David Nicholl, G. De Michele, M. De Mari, Fabrizio Stocchi, Ubaldo Bonuccelli, Giovanni Fabbrini, Cesare Colosimo, Peter Vieregge, Silvia Romano, Giuseppe Meco, Nicola Vanacore, Nicoletta Locuratolo, Roberto Marconi, Vanacore, N, Bonifati, V., Fabbrini, G., Colosimo, C., DE MICHELE, Giuseppe, Marconi, R., Nicholl, D., Locuratolo, N., Talarico, G., Romano, S., Stocchi, F., Bonuccelli, U., De Mari, M., Vieregge, P., and Meco, G.
- Subjects
Pediatrics ,medicine.medical_specialty ,education.field_of_study ,Neuroscience (all) ,business.industry ,Incidence (epidemiology) ,Population ,Prevalence ,Dermatology ,General Medicine ,Environmental exposure ,Psychiatry and Mental health ,Epidemiology ,medicine ,Physical therapy ,Etiology ,Neurology (clinical) ,Age of onset ,education ,business ,Survival rate - Abstract
Multiple system atrophy (MSA) is a form of atypical parkinsonism with unknown etiology. The epidemiological studies conducted up to now on this disease are scarce. The incidence rate is about 0.6 cases per 100 000 persons per year. The prevalence rates show 4–5 cases per 100 000 persons. In Italy, about 4900 prevalent cases have been estimated. The mean onset age is about 54 years; the median survival is 7–9 years. Only one case-control study has been performed on this disease. This study showed an increased risk MSA associated with occupational exposure to organic solvents, plastic monomers and additives, pesticides and metals. Smoking habits seem to be less frequent in MSA cases (as in Parkinson's disease cases) than in healthy controls. Quinn's clinical criteria and those of the Consensus Conference promoted by the American Academy of Neurology are in fair agreement. We have performed a case-control study on 73 MSA cases, 146 hospital controls and 73 population controls.
- Published
- 2001
48. Epidemiology of progressive supranuclear palsy
- Author
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Nicola Vanacore, Cesare Colosimo, Paolo Lamberti, G. De Michele, Fabrizio Stocchi, Ubaldo Bonuccelli, Giuseppe Meco, Nicoletta Locuratolo, Giovanni Fabbrini, Peter Vieregge, David Nicholl, Silvia Romano, Vincenzo Bonifati, Giuseppina Talarico, and Roberto Marconi
- Subjects
medicine.medical_specialty ,education.field_of_study ,Pediatrics ,Pathology ,Neurology ,business.industry ,Parkinsonism ,Population ,Haplotype ,Dermatology ,General Medicine ,medicine.disease ,Disease cluster ,eye diseases ,Progressive supranuclear palsy ,Psychiatry and Mental health ,Epidemiology ,medicine ,Atypical Parkinsonism ,Neurology (clinical) ,education ,business - Abstract
Progressive supranuclear palsy (PSP) is a rare form of parkinsonism. The incidence rates are about 0.3–1.1 cases per 100 000 persons. The only two-case-control studies performed up to now show conflictual results as regards education and residence in rural areas. Recently, a cluster of PSP and atypical parkinsonism has been observed in French Antilles. The hypothesis is that a consumption of both tropical fruit and herbal tea may be associated with PSP onset. Some PSP families with a probably autosomal dominant transmission have been described. A high frequency of a tau haplotype (H1/H1) associated with PSP is reported by some authors. The significance of this association is still not clear. We have performed a case-control study on 58 PSP cases, 116 hospital controls and 58 population controls.
- Published
- 2001
49. Silyl-Terminated Ethylene-co-Norbornene Copolymers by Organotitanium-Based Catalysts
- Author
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Roberto, Marconi, Andrea, Ravasio, Laura, Boggioni, and Incoronata, Tritto
- Abstract
Ethylene (E) and norbornene (N) were copolymerized in the presence of PhSiH(3) as chain-transfer agent with [Ti(η(5) :η(1) -C(5) Me(4) SiMe(2) NBu(t) )(η(1) -Me)(2) ] precatalyst combined with [Ph(3) C][B(C(6) F(5) )(4) ]. The silane was introduced at chain-ends of E-co-N copolymers with concomitant reinitiation of the growing polymer chain. The concentrations of the silane and polymer molecular weight are inversely correlated. The characteristic signals of SiH(2) Ph chain-ends were observed by (1) H NMR. The Si heteroatom is predominantly adjacent to ethylene units in E-co-N copolymers with high N content.
- Published
- 2008
50. Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients
- Author
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Giuseppe Caruso, Giuseppe Campanella, Roberto Marconi, G DeMichele, A. Filla, Filla, Alessandro, DE MICHELE, Giuseppe, G., Caruso, R., Marconi, and G., Campanella
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Pediatrics ,Ataxia ,Neurology ,Adolescent ,complications/diagnosis/epidemiology/genetics, Humans, Italy ,Cardiomyopathy ,Disease ,complications, Chi-Square Distribution, Child, Diabetes Complications, Female, Friedreich Ataxia ,Diabetes Complications ,Dysarthria ,Degenerative disease ,Humans ,Medicine ,Child ,Chi-Square Distribution ,business.industry ,Genetic heterogeneity ,Hypertrophic cardiomyopathy ,Cardiomyopathy, Hypertrophic ,Middle Aged ,medicine.disease ,Pedigree ,Italy ,Hypertrophic ,Friedreich Ataxia ,Adolescent, Adult, Cardiomyopathy ,Female ,Neurology (clinical) ,epidemiology, Male, Middle Aged, Pedigree ,medicine.symptom ,business - Abstract
The clinical and genetic features of 80 patients with Friedreich's disease from 64 families are described. Diagnostic criteria were: no evidence of dominant inheritance, onset by the age of 20 years, progressive unremitting ataxia of limbs and gait, and absence of knee and ankle jerks. Furthermore, at least one of the following accessory signs was present: dysarthria, extensor plantar response and echocardiographic evidence of hypertrophic cardiomyopathy. Two peaks of onset age were evident at 6-9 and 12-15 years. Analysis of intra-family variation of onset age and absence of clustering of cardiomyopathy and diabetes did not suggest genetic heterogeneity. Peripheral nerve impairment was an early finding and showed slight further progression, whereas involvement of the cerebellar and corticospinal pathways appeared later and mainly accounted for the progressive worsening of the disease.
- Published
- 1990
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