Pisa, Italy


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Abboud H.,Saint - Joseph University | Abboud H.,Bichat University Hospital | Labreuche J.,Bichat University Hospital | Labreuche J.,University Paris Diderot | And 11 more authors.
International Journal of Stroke | Year: 2013

Background: There is a paucity of data on patients with stroke/transient ischaemic attack in low- and middle-income countries. We sought to describe the characteristics and management of patients with an ischaemic stroke and recent transient ischaemic attack or minor ischaemic strokes in low- or middle-income countries. Methods: The Outcomes in Patients with TIA and Cerebrovascular disease registry is an international, prospective study. Patients ≥45 years who required secondary prevention of stroke (either following an acute transient ischaemic attack or minor ischaemic strokes (National Institutes of Health Stroke Scale <4) of <24h duration, or recent (<6 months), stable, first-ever, non-disabling ischaemic stroke) were enrolled in 17 countries in Latin America, the Middle East, and Africa. The main measures of interest were risk factors, comorbidities, and socio-economic variables. Results: Between January 2007 and December 2008, 3635 patients were enrolled in Latin America (n=1543), the Middle East (n=1041), North Africa (n=834), and South Africa (n=217). Of these, 63% had a stable, first-ever ischaemic stroke (median delay from symptom onset to inclusion, 25 days interquartile range, 7-77); 37% had an acute transient ischaemic attack or minor ischaemic stroke (median delay, two-days; interquartile range, 0-6). Prevalence of diabetes was 46% in the Middle East, 29% in Latin America, 35% in South Africa, and 38% in North Africa; 72% had abdominal obesity (range, 65-78%; adjusted P<0·001); prevalence of metabolic syndrome was 78% (range, 72-84%, P<0·001). Abnormal ankle brachial index (<0·9) was present in 22%, peripheral artery disease in 7·6%, and coronary artery disease in 13%. Overall, 24% of patients had no health insurance and 27% had a low educational level. Interpretation: In this study, patients in low- and middle-income countries had a high burden of modifiable risk factors. High rates of low educational level and lack of health insurance in certain regions are potential obstacles to risk factor control. Funding: The Outcomes in Patients with TIA and Cerebrovascular disease registry is supported by Sanofi-Aventis, Paris, France. © 2012 World Stroke Organization.

Morgante L.,Messina University | Colosimo C.,University of Rome La Sapienza | Antonini A.,Parkinson Institute | Meco G.,University of Rome La Sapienza | And 14 more authors.
Journal of Neurology, Neurosurgery and Psychiatry | Year: 2012

Objective: To evaluate the prevalence of psychosis associated with Parkinson's disease (PSY-PD) in its early stages, its incidence over a 24 month follow-up period and the association with motor and non-motor clinical features. Methods: PRIAMO is a 2 year longitudinal observational study that has enrolled patients with parkinsonism in 55 Italian centres. A cohort of 495 patients with early disease stage PD (baseline Hoehn and Yahr score ≤2, disease's duration (median) 3.4 years) were followed for 2 years. PSY-PD was evaluated by means of a clinician rated questionnaire and defined as the presence of at least one of the following symptoms occurring for at least 1 month: illusions, hallucinations, jealousy ideas and persecutory ideas. Patients with and without PSY-PD were compared on several clinical variables, encompassing motor and non-motor features. Results: The prevalence of PSY-PD at baseline was 3%; the incidences at 12 and 24 months were 5.2% and 7.7%, respectively. Longer disease duration and prescription of dopamine agonists at baseline were associated with the development of PSY-PD over the 24 month period. At this follow-up time, worse disease severity, decline in cognitive performances, presence of depressive symptoms and anxiety were more frequently observed in PSY-PD. Conclusions: Psychotic type symptoms may occur in the early stages of PD although less frequently than in later stages. Beyond dopaminergic treatment, there are disease related factors, such as disease severity and the occurrence of cognitive and depressive symptoms, which may underlie the onset of psychotic type symptoms from the earliest stages.

PubMed | Medicina Trasfusionale, University of Udine, NeuroLogica, Neurologia and 3 more.
Type: Journal Article | Journal: PloS one | Year: 2015

Abnormalities of intracellular Ca2+ homeostasis and signalling as well as the down-regulation of neurotrophic factors in several areas of the central nervous system and in peripheral tissues are hallmarks of Huntingtons disease (HD). As there is no therapy for this hereditary, neurodegenerative fatal disease, further effort should be made to slow the progression of neurodegeneration in patients through the definition of early therapeutic interventions. For this purpose, molecular biomarker(s) for monitoring disease onset and/or progression and response to treatment need to be identified. In the attempt to contribute to the research of peripheral candidate biomarkers in HD, we adopted a multiplex real-time PCR approach to analyse the mRNA level of targeted genes involved in the control of cellular calcium homeostasis and in neuroprotection. For this purpose we recruited a total of 110 subjects possessing the HD mutation at different clinical stages of the disease and 54 sex- and age-matched controls. This study provides evidence of reduced transcript levels of sarco-endoplasmic reticulum-associated ATP2A2 calcium pump (SERCA2) and vascular endothelial growth factor (VEGF) in peripheral blood mononuclear cells (PBMCs) of manifest and pre-manifest HD subjects. Our results provide a potentially new candidate molecular biomarker for monitoring the progression of this disease and contribute to understanding some early events that might have a role in triggering cellular dysfunctions in HD.

Galletti F.,University of Perugia | Costa C.,University of Perugia | Cupini L.M.,Neurologia | Eusebi P.,Fondazione S Lucia IRCCS di Rome | And 8 more authors.
Journal of Neurology, Neurosurgery and Psychiatry | Year: 2014

Objective To evaluate seizures as first clinical manifestation of brain arteriovenous malformations (AVMs), in relation to angioarchitectural features of these vascular anomalies. Methods We performed a prospective observational study, collecting records of patients with AVMs consecutively admitted to the Neurological and Neurosurgery Units of Perugia University and to the Neurosurgery Unit of Terni Hospital, during a 10-year period (1 January 2002 to 1 June 2012). Two groups of patients, with or without seizures as AVM first presentation, were analysed to identify differences in demographic and angiographic features. A multivariate logistic regression model was also developed. Results We examined 101 patients with AVMs, 55 male and 46 female. Seizures were the initial clinical manifestation in 31 (30.7%) patients. We found a significant difference (p<0.05) between two groups of patients, with or without seizures as AVM first presentation concerning location, side, topography and venous drainage. A multivariate logistic regression model showed that clinical presentation with seizures was correlated with a location in the temporal and frontal lobes, and with a superficial topography. The strongest association (OR 3.48; 95% CI 1.77 to 6.85) was observed between seizures and AVM location in the temporal lobe. Conclusions Vascular remodelling and haemodynamic changes of AVMs might create conditions for epileptogenesis. However, here we show that malformations with specific angiographic characteristics are more likely to be associated with seizures as first clinical presentation. Location is the most important feature related to epilepsy and in particular the temporal lobe might play a crucial role in the occurrence of seizure.

News Article | February 17, 2017

Usando a edição de genes CRISPR/Cas9, a Taconic desenvolveu e validou um modelo de camundongo portador da mutação EPG5 encontrada nos pacientes com síndrome de Vici em várias famílias. Uma forma altamente eficiente de gerar modelos de camundongos e ratos personalizados dentro de um curto período de tempo, CRISPR é uma das muitas tecnologias que a Taconic emprega para gerar modelos de doenças humanas e dar suporte aos pesquisadores que estudam a função do gene in vivo. Os modelos de camundongos projetados geneticamente com síndrome de Vici foram entregues aos pesquisadores que estão trabalhando no projeto BeHEARD: Mathias Gautel, BHF Chair de Cardiologia do King's College London BHF Research Excellence Centre, e Heinz Jungbluth, Leitor de Neurologia Pediátrica do King's College, e Consultor do Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, Londres. "A precisão da manipulação genética pela Taconic e sua velocidade na entrega foram vitais para o nosso trabalho", disse o Prof. Gautel e o Dr. Jungbluth. Os pesquisadores estão usando os camundongos para validar a replicação do modelo do fenótipo humano da doença, em termos de sintomas neurológicos, muscoesquelético e outros órgãos. "Se o modelo replica os fenótipos humanos com fidelidade, ele poderia ser aplicado rapidamente para avaliar compostos de drogas para a síndrome de Vici", disse o Prof. Gautel. A síndrome de Vici é uma doença congênita grave que afeta muitas áreas caracterizada pelo não desenvolvimento da região do corpo caloso do cérebro, juntamente com a cardiomiopatia, catarata, hipopigmentação da pele, olhos e cabelo, e imunodeficiência combinada. Taconic Biosciences, Inc. A Taconic Biosciences é provedora global de modelos e serviços de roedores projetados geneticamente. Fundada em 1952, a Taconic ajuda as empresas e instituições de biotecnologia a adquirir, gerar com personalização, reprodução, pré-condicionar, testar e distribuir modelos valiosos para pesquisas em todo o mundo. Especialista em modelos de camundongos e ratos geneticamente projetados, modelos de camundongos de precisão para pesquisas, e serviços integrados de design e reprodução de modelos, a Taconic opera seis locais de reprodução nos EUA e na Europa, mantém relacionamentos com distribuidores na Ásia e capacidade de envio global viabilizando a entrega de modelos de animais para quase qualquer local no mundo.

Rodriguez P.,Asociacion Parkinson Bueu Galicia | Cancela J.M.,University of Vigo | Ayan C.,University of Vigo | Do Nascimento C.,University of Sao Paulo | Seijo-Martinez M.,Neurologia
Revista de Neurologia | Year: 2013

Aim. To determine the effects of an aquatic-based physical exercise program on gait parameters of patients with Parkinson'S disease (PD). Patients and methods. A total of nine patients diagnosed with idiopathic PD (stages I-III according to the Hoehn & Yahr scale) carried out an aquatic physical exercise program which lasted for five months, with one session per week. A three-dimensional biomechanical analysis was used to determine the effects of the program on several kinematic variables (walking speed, cadence, stride length, step time, single and double support time, angles of the hip, knee and ankle joints) which were assessed by a treadmill-walking test. Results. At the end of the program, significant improvement in walking speed, stride length and on the relationship between single and double support time (p < 0,05). Although improvements in all tested ranges of motion were obtained, these did not reach statistical significance. Conclusions. Aquatic-based physical exercise seems to have positive effects in some aspects of the gait kinematics parameters present in the typical gait pattern of patients with PD. ©2013 Revista de Neurología.

Gil Campoy J.A.,Medicina de Familia | Gonzalez Oria C.,Neurologia | Fernandez Recio M.,Neurologia | Gomez Aranda F.,Neurologia | And 2 more authors.
Semergen | Year: 2012

Headache is one of the most frequent reasons for consultation in our health centers, something which should not be surprising if we consider that is one of the most common symptoms experienced by the population. The main concern of the family physician and emergency physician is to reach a correct diagnosis by clinical history and a basic neurological examination and adapted to the time and means at its disposal. In case of diagnostic doubts or suspected secondary headache, the primary care physician or emergency medical have to refer the patient to be studied and/or treated for Neurology services, such referral shall be made with varying degrees of urgency depending on the presence, or not, of symptoms or signs of alarm. A working group consisting of Neurologists of Sociedad Andaluza de Neurología (SAN) to provide services in different hospitals in Andalucía and Family Physicians representatives of the Sociedad Andaluza de Medicina Familiar y Comunitaria (SAMFyC) and the Sociedad Española de Médicos de Atención Primaria (SEMERGEN Andalucía), has developed a Quick Guide headache, which addresses the more practical aspects for the diagnosis, treatment and monitoring of patients with headache. We show you in this paper, the chapter that deals the alarm criteria and referral. © 2012.

Pontes R.T.,CTI do Hospital Estadual Azevedo Lima | Orsini M.,Federal University of Fluminense | De Freitas M.R.G.,Chefe do Servico de Neurologia | De Souza Antonioli R.,Aluna do Programa de Iniciacao Cientifica | Nascimento O.J.M.,Neurologia
Revista Neurociencias | Year: 2010

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease of nervous central system, that cause progressive atrophy of breathing muscles and members, moreover bulbar symtoms like dysarthria and dysphagia, result in dead or permanent ventilatory support. Objectives. Show the main disorders of the speech and swallowing, available in the literature. Method. In this study of literature review, it was achieve a search in the main basis LILACS and SciELO, with the keywords: amyotrophic lateral sclerosis, dysphagia, dysphonia, dysarthria, speech therapy, between 1977 and 2006. Results. The application of different speech therapy maneuvers showed that it was important for the rehabilitation of the patients with ALS. The Speech Therapyst teaches the patients how to preserv or reduce the problems of swallow and speech, in so far as the disease progress. Conclusion. An early detection of these disturbs allow the professionals (speech therapysts) to evaluate the functional damages and set out the real aims of rehabilitation. The results of this review attract attention to development of a research protocol of ALS in the point of view of speech therapy, due to sortage of the material found.

Cervantes-Arriaga A.,Laboratorio Clinico Of Enfermedades Neurodegenerativas | Rodriguez-Violante M.,Laboratorio Clinico Of Enfermedades Neurodegenerativas | Villar-Velarde A.,Laboratorio Clinico Of Enfermedades Neurodegenerativas | Lopez-Gomez M.,Neurologia | Teresa-Corona,Laboratorio Clinico Of Enfermedades Neurodegenerativas
Revista de Investigacion Clinica | Year: 2010

Objective. To determine the metric properties of the non-motor symptoms questionnaire (NMSQuest), non-motor symptoms scale (NMSSS) and SCOPA-AUT clinimetric instruments to assess non motor dysfunction in Mexican population. Material and methods. After linguistic validation, the instruments were applied to 100 consecutive Parkinson's disease patients to analyze its metric properties in Mexican out-patients from the National Institute of Neurology and Neurosurgery. Results. Internal consistency by Cronbach's alpha was above 0.80 for all instruments. Inter-item and item-total correlations were above 0.30 in the majority of the domains and inter-observer variability was acceptable. Total score did not correlate with any of the registered clinical variables. Conclusion. The metric properties of the three instruments were acceptable and similar to published data from other countries.

PubMed | Neurologia
Type: Journal Article | Journal: Clinical neuropharmacology | Year: 2012

Catechol-O-methyltransferase (COMT) inhibitors are drugs commonly used in the management of patients with Parkinson disease complicated by motor fluctuations. Among them, entacapone is the most commonly used. Tolcapone has been reintroduced in patients where entacapone has proved to be ineffective after being withdrawn from the market because of sporadic cases of hepatotoxicity. The last COMT inhibitor is nebicapone, which use in clinical practice is still under study.The objectives of this study were to analyze the clinical efficacy in reducing motor complications and to evaluate their use in clinical practice and the adverse events reported in the literature.Scientific articles of the main previously mentioned drugs have been reviewed.All these 3 drugs have proved to be effective in improving wearing-off and significantly reduce the daily dose of levodopa at the number of daily intakes. Tolcapone is undoubtedly the most effective drug, although in clinical practice sporadic cases of hepatotoxicity have limited its use in patients unresponsive to entacapone. Nebicapone is effective, and its safety is still under evaluation. Entacapone is generally well tolerated, and no significant adverse events are reported.To manage motor fluctuations, the use of COMT inhibitors is now consolidated in the common clinical practice. Tolcapone is used as a second choice in patients with severe motor fluctuations not responsive to entacapone.

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