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1.
Eur J Neurol ; 30(8): 2305-2314, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37165521

RESUMO

BACKGROUND AND PURPOSE: A prognostic score was developed to predict dependency and death after cerebral venous thrombosis (CVT) to identify patients for targeted therapy in future clinical trials. METHODS: Data from the International CVT Consortium were used. Patients with pre-existent functional dependency were excluded. Logistic regression was used to predict poor outcome (modified Rankin Scale score 3-6) at 6 months and Cox regression to predict 30-day and 1-year all-cause mortality. Potential predictors derived from previous studies were selected with backward stepwise selection. Coefficients were shrunk using ridge regression to adjust for optimism in internal validation. RESULTS: Of 1454 patients with CVT, the cumulative number of deaths was 44 (3%) and 70 (5%) for 30 days and 1 year, respectively. Of 1126 patients evaluated regarding functional outcome, 137 (12%) were dependent or dead at 6 months. From the retained predictors for both models, the SI2 NCAL2 C score was derived utilizing the following components: absence of female-sex-specific risk factor, intracerebral hemorrhage, infection of the central nervous system, neurological focal deficits, coma, age, lower level of hemoglobin (g/l), higher level of glucose (mmol/l) at admission, and cancer. C-statistics were 0.80 (95% confidence interval [CI] 0.75-0.84), 0.84 (95% CI 0.80-0.88) and 0.84 (95% CI 0.80-0.88) for the poor outcome, 30-day and 1-year mortality model, respectively. Calibration plots indicated a good model fit between predicted and observed values. The SI2 NCAL2 C score calculator is freely available at www.cerebralvenousthrombosis.com. CONCLUSIONS: The SI2 NCAL2 C score shows adequate performance for estimating individual risk of mortality and dependency after CVT but external validation of the score is warranted.


Assuntos
Trombose Intracraniana , Neoplasias , Trombose Venosa , Masculino , Humanos , Feminino , Hemorragia Cerebral/terapia , Fatores de Risco , Estudos Retrospectivos
2.
Neurol Sci ; 42(6): 2447-2452, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33078249

RESUMO

BACKGROUND: The incidence of stroke in high-income countries has been on the decline; however, few epidemiological surveys have been conducted in recent years to specifically estimate the incidence along with outcome of stroke, in Italy. This study aimed to examine the incidence and case fatality rates of stroke in an elderly Italian population. METHODS: A cohort of 2200 people > 65 years was randomly stratified from the total elderly population of Bagheria, Italy. A 9-year prospective population-based study was performed (19,800 person/years). RESULTS: We identified 112 first-ever strokes, 53 females and 59 males: 82 (73.1%) ischemic, 13(11.6%) intracerebral haemorrhages, 6 (5.35%) subarachnoid haemorrhages, while 11(9.8%) were classified as undetermined strokes. The crude overall annual incidence was 5.65 per 1000 (95%CI: 4.61 to 6.70) for first-ever stroke. The overall crude incidence rates were 4.74 per 1000 (5.08 for males and 4.46 for females) for ischemic stroke, 0.65 (0.99 for males and 0.37 for females) for intracerebral haemorrhage, and 0.03 for subarachnoid haemorrhage. The incidence rate for first-ever stroke was 5.4 per 1000 (95% CI: 5.36 to 5.45) after adjustment for the 2015 World population and 5.56 (95% CI: 5.52 to 5.61), compared to the 2015 European population. Overall case fatality rates for first-ever stroke was 8.19% at 28 days and 24.1% at 1 year. CONCLUSION: Our study shows that in the elderly population investigated, stroke incidence and case fatality rates resulted being lower, compared to those from Italian and most European populations. Similar to previous studies, these rates increased linearly with age and were higher in males.


Assuntos
Acidente Vascular Cerebral , Idoso , Hemorragia Cerebral/epidemiologia , Feminino , Humanos , Incidência , Itália/epidemiologia , Masculino , Estudos Prospectivos , Sistema de Registros , Acidente Vascular Cerebral/epidemiologia
3.
Brain ; 142(8): 2319-2335, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-31257402

RESUMO

Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). A 20-year long clinical follow-up revealed that epilepsy was self-limited in all three affected patients, but exercise-induced dystonia persisted into adulthood in two. Furthermore, we identified three additional sporadic paediatric patients with a remarkably similar phenotype, two of whom had compound heterozygous mutations consisting of an in-frame deletion I81_K84 and an A500V mutation, and the third carried T182M and G511R missense mutations, overall revealing that all six patients harbour a missense mutation in the subdomain of TLDc between residues 500 and 511. We solved the crystal structure of the conserved Drosophila TLDc domain. This allowed us to predict destabilizing effects of the G501R and G511R mutations and, to a lesser degree, of R360H and potentially A500V. Next, we characterized the functional consequences of a strong and a weak TLDc mutation (TBC1D24G501R and TBC1D24R360H) using Drosophila, where TBC1D24/Skywalker regulates synaptic vesicle trafficking. In a Drosophila model neuronally expressing human TBC1D24, we demonstrated that the TBC1D24G501R TLDc mutation causes activity-induced locomotion and synaptic vesicle trafficking defects, while TBC1D24R360H is benign. The neuronal phenotypes of the TBC1D24G501R mutation are consistent with exacerbated oxidative stress sensitivity, which is rescued by treating TBC1D24G501R mutant animals with antioxidants N-acetylcysteine amide or α-tocopherol as indicated by restored synaptic vesicle trafficking levels and sustained behavioural activity. Our data thus show that mutations in the TLDc domain of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia. The humanized TBC1D24G501R fly model exhibits sustained activity and vesicle transport defects. We propose that the TBC1D24/Sky TLDc domain is a reactive oxygen species sensor mediating synaptic vesicle trafficking rates that, when dysfunctional, causes a movement disorder in patients and flies. The TLDc and TBC domain mutations' response to antioxidant treatment we observed in the animal model suggests a potential for combining antioxidant-based therapeutic approaches to TBC1D24-associated disorders with previously described lipid-altering strategies for TBC domain mutations.


Assuntos
Acetilcisteína/análogos & derivados , Antioxidantes/uso terapêutico , Modelos Animais de Doenças , Drosophila melanogaster/fisiologia , Distonia/tratamento farmacológico , Epilepsia Rolândica/genética , Proteínas Ativadoras de GTPase/genética , Esforço Físico , alfa-Tocoferol/uso terapêutico , Acetilcisteína/uso terapêutico , Adolescente , Motivos de Aminoácidos/genética , Sequência de Aminoácidos , Animais , Animais Geneticamente Modificados , Transporte Biológico/efeitos dos fármacos , Domínio Catalítico/genética , Criança , Pré-Escolar , Cristalografia por Raios X , Proteínas de Drosophila/química , Proteínas de Drosophila/genética , Drosophila melanogaster/genética , Distonia/etiologia , Epilepsia Rolândica/tratamento farmacológico , Feminino , Proteínas Ativadoras de GTPase/química , Proteínas Ativadoras de GTPase/fisiologia , Humanos , Lactente , Locomoção/genética , Locomoção/fisiologia , Masculino , Modelos Moleculares , Mutação de Sentido Incorreto , Neurônios/fisiologia , Estresse Oxidativo , Linhagem , Conformação Proteica , Espécies Reativas de Oxigênio/metabolismo , Proteínas Recombinantes/metabolismo , Alinhamento de Sequência , Deleção de Sequência , Homologia de Sequência de Aminoácidos , Vesículas Sinápticas/metabolismo , Proteínas rab de Ligação ao GTP/química , Proteínas rab de Ligação ao GTP/genética
4.
J Neural Transm (Vienna) ; 126(12): 1701-1706, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31576424

RESUMO

We evaluated the combined use of transcranial random noise stimulation (tRNS) with the Graded Repetitive Arm Supplementary Program (GRASP) in sub-acute ischemic stroke patients suffering from arm impairment. Eighteen ischemic stroke patients with upper limb disability were randomly assigned to either the GRASP + tRNS or GRASP + Sham stimulation group. Fugl-Meyer Assessment-Upper extremity (FMA-UE) was performed to evaluate upper limb impairment before treatment (T0), after the last stimulation (T1) and after 30 days (T2). At T1 and T2, beneficial effects in the tRNS group correlated with better FMA-UE score than sham stimulation group (p < 0.001) and these results did not correlate to stroke severity, because no associations were observed between National Institute of Health Stroke Scale and FMA UE T1 and T2. This study displayed a good feasibility and was the first to evaluate the use of tRNS in association with Grasp in sub-acute stroke survivors having arm impairment to improve arm motor recovery.


Assuntos
Terapia Combinada/métodos , Modalidades de Fisioterapia , Recuperação de Função Fisiológica , Reabilitação do Acidente Vascular Cerebral/métodos , Estimulação Transcraniana por Corrente Contínua/métodos , Idoso , Encéfalo/fisiologia , Método Duplo-Cego , Feminino , Humanos , Masculino , Projetos Piloto , Resultado do Tratamento , Extremidade Superior
5.
BMC Neurol ; 18(1): 148, 2018 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-30236066

RESUMO

BACKGROUND: Autonomic nervous system dysfunction, common in patients with Parkinson's disease (PD), causes significant morbidity and it is correlated with poor quality of life. To assess frequency of urinary symptoms in patients with PD, without conditions known to interfere with urinary function. METHODS: Non-demented PD patients were consecutively enrolled from the outpatients clinic of our department. Scales investigating motor and non-motor symptoms were carried out. Evaluation of urinary dysfunctions was carried out using the AUTonomic Scale for Outcomes in Parkinson's disease (SCOPA-AUT) questionnaire. Patients underwent noninvasive urological studies (nUS), including uroflowmetry and ultrasound of the urinary tract. RESULTS: Forty-eight (20 women, 42%) out of 187 PD patients met the inclusion criteria and were enrolled in the study. Mean SCOPA-AUT score was 14.1 ± 6.9 (urinary symptoms subscore 5.2 ± 3.8). Among those evaluated by the SCOPA-AUT scale, the urinary symptoms were among the most common complaints (93.8%). At nUS mean maximum flow rate (Qmax) was 17.9 ± 9.1 ml/s, and mean postvoid residual (PVR) urine volume was 24.4 ± 44.1 ml. Ultrasound investigation documented prostate hypertrophy in 12 male patients (42.8%). Urinary items of the SCOPA-AUT (SCOPA-U subscore) correlated with measures of disease severity only in female patients. CONCLUSION: Urinary symptoms and abnormal findings in nUS are common in PD. Though nigrostriatal degeneration might be responsible for urinary symptoms also in the early-intermediate stage of the disease, when urinary dysfunction occurs other medical conditions need to be excluded.


Assuntos
Doenças do Sistema Nervoso Autônomo/epidemiologia , Doenças do Sistema Nervoso Autônomo/etiologia , Doença de Parkinson/complicações , Doenças Urológicas/epidemiologia , Doenças Urológicas/etiologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Inquéritos e Questionários
6.
BMC Neurol ; 17(1): 155, 2017 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-28789625

RESUMO

BACKGROUND: The association between multiple sclerosis (MS) and cancer has long been investigated with conflicting results. Several reports suggest an increased cancer risk among MS patients treated with immunosuppressant (IS) drugs. METHODS: We performed a cohort study including MS patients recruited at the Neurological Department of the University of Palermo. Mean follow-up period was ten years for the whole cohort. We calculated cancer incidence among patients treated with IS. Incidence rates were compared in the cohort by calculating the relative risk according to length and dose of exposure to IS. Cancer incidence among MS patients was compared to cancer incidence in the general population of Sicily in similar age groups. RESULTS: On an overall cohort of 531 MS patients (346 women and 185 men) exposed to IS, we estimated a crude incidence rate for cancer of 2.26% (2.02% in women, 2.7% in men). Cancer risk was higher compared to rates observed among an equal number of patients not exposed to IS, and to the risk in the general population in Sicily at similar age groups (adjusted HR: 11.05; CI 1.67-73.3; p = 0.013). CONCLUSION: The present study showed a higher cancer risk in MS patients associated only to previous IS exposure. Studies on long-term outcomes are essential to evaluate the possibility that treatment options that need to be considered for a long time-period may modify risk for life threatening diseases.


Assuntos
Imunossupressores/uso terapêutico , Esclerose Múltipla/epidemiologia , Neoplasias/epidemiologia , Adulto , Estudos de Coortes , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/tratamento farmacológico , Risco , Adulto Jovem
7.
J Stroke Cerebrovasc Dis ; 23(4): 649-54, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23834850

RESUMO

BACKGROUND: Hemorrhagic transformation (HT), a complication of ischemic stroke (IS), might influence patient's prognosis. Our aim is to evaluate, in a hospital-based series of patients not treated with thrombolysis, the relationship between HT and mortality. METHODS: We compared mortality of individuals with spontaneous HT with that of individuals without. Medical records of patients diagnosed with anterior IS were retrospectively reviewed. Outcome measures were 30- and 90-day survival after IS onset. Kaplan-Meier estimates were used to construct survival curves. Cox proportional hazards model was used to estimate hazard ratio (HR) for the main outcome measure (death). HT was stratified in hemorrhagic infarction and parenchymal hematoma (PH). We also evaluated the relationship between HT and the main mortality risk factors (gender, age, premorbid status, severity of stroke, and radiological features). RESULTS: Thirty days from stroke onset, 8.1% (19 of 233) of patients died. At multivariate analysis, PH (HR: 7.7, 95% confidence interval [CI]: 2.1, 27.8) and low level of consciousness at admission (HR: 5.0, 95% CI: 1.3, 18.6) were significantly associated with death. At 3-month follow-up, mortality rate was 12.1% (28 of 232). At multivariate analysis, large infarct size (HR: 2.7, 95% CI: 1.2, 6.0) and HT (HR: 2.3, 95% CI: 1.0, 5.4) were independent risk factors for mortality. Parenchymal hematoma was, however, the strongest predictor of late mortality (HR: 7.9, 95% CI: 2.9, 21.4). CONCLUSIONS: Neurological status and infarct size play a significant role, respectively, in early and late mortality after IS. Parenchymal hematoma independently predicts both early and late mortality.


Assuntos
Isquemia Encefálica/mortalidade , Hemorragias Intracranianas/mortalidade , Acidente Vascular Cerebral/mortalidade , Idoso , Idoso de 80 Anos ou mais , Anticoagulantes/uso terapêutico , Aspirina/uso terapêutico , Isquemia Encefálica/complicações , Isquemia Encefálica/tratamento farmacológico , Estudos de Coortes , Progressão da Doença , Feminino , Seguimentos , Heparina/uso terapêutico , Humanos , Hemorragias Intracranianas/complicações , Hemorragias Intracranianas/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Inibidores da Agregação Plaquetária/uso terapêutico , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/tratamento farmacológico , Acidente Vascular Cerebral/etiologia , Taxa de Sobrevida
8.
Nat Genet ; 33(2): 192-6, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12539047

RESUMO

Headache attacks and autonomic dysfunctions characterize migraine, a very common, disabling disorder with a prevalence of 12% in the general population of Western countries. About 20% of individuals affected with migraine experience aura, a visual or sensory-motor neurological dysfunction that usually precedes or accompanies the headache. Although the mode of transmission is controversial, population-based and twin studies have implicated genetic factors, especially in migraine with aura. Familial hemiplegic migraine is a hereditary form of migraine characterized by aura and some hemiparesis. Here we show that mutations in the gene ATP1A2 that encodes the alpha2 subunit of the Na+/K+ pump are associated with familial hemiplegic migraine type 2 (FHM2) linked to chromosome 1q23 (OMIM 602481). Functional data indicate that the putative pathogenetic mechanism is triggered by a loss of function of a single allele of ATP1A2. This is the first report associating mutations of Na+K+ pump subunits to genetic diseases.


Assuntos
Enxaqueca com Aura/enzimologia , Enxaqueca com Aura/genética , Mutação , ATPase Trocadora de Sódio-Potássio/genética , Animais , Sequência de Bases , Células COS , Canais de Cálcio/genética , Estudos de Casos e Controles , Sobrevivência Celular/efeitos dos fármacos , Chlorocebus aethiops , Cromatografia Líquida de Alta Pressão , Cromossomos Humanos Par 1/genética , Resistência a Medicamentos , Inibidores Enzimáticos/farmacologia , Feminino , Haploidia , Células HeLa , Humanos , Masculino , Dados de Sequência Molecular , Mutagênese Sítio-Dirigida , Ouabaína/farmacologia , Linhagem , Fragmentos de Peptídeos , ATPase Trocadora de Sódio-Potássio/metabolismo , Transfecção
9.
Ann Clin Transl Neurol ; 10(6): 1025-1034, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37139906

RESUMO

OBJECTIVE: Vaccines are a major achievement of science, and new vaccines against SARS-CoV-2 are protecting the entire population from a life-threatening infection. Although several neurological complications or worsening of pre-existing neurological conditions after vaccination have been observed, whether a biological plausibility exist between new vaccines against-SARS-CoV-2 and neurological consequences is unclear. The aim of this study is to evaluate whether vaccines against SARS-CoV-2 induce systemic or cerebrospinal fluid alterations in patients with neurological disorders. METHODS: Patients who underwent lumbar puncture (LP) between February 2021 and October 2022 were enrolled. Serum C-reactive protein (CRP), neutrophil to lymphocyte ratio (NLR), cerebrospinal fluid total protein content (CSF-TPc), glucose CSF/serum ratio, number of CSF cells per cubic millimeter, and CSF neurofilament light chain (CSF-NfL) were compared between unvaccinated and vaccinated patients. RESULTS: A total of 110 patients were included and fitted into three groups according firstly to vaccination status (vaccinated and unvaccinated) and then to time from last dose of vaccine to LP (within or after 3 months). TPc, CSF/SGlu ratio, number of cells per cubic millimeter, CSF-NfL, CRP, and NLR were not different between groups (all p > 0.05), and also, they did not differ neither according to age nor diagnosis. No relevant differences between groups were also noticed when the at-risk time window was set to 6 weeks. INTERPRETATION: No signs of neuroinflammation, axonal loss and systemic inflammation were found in patients with neurological disorders after anti-SARS-CoV-2 vaccination compared with unvaccinated ones.


Assuntos
COVID-19 , SARS-CoV-2 , Humanos , Vacinas contra COVID-19/efeitos adversos , COVID-19/prevenção & controle , Vacinação/efeitos adversos , Biomarcadores
10.
Amyotroph Lateral Scler ; 13(3): 284-7, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22409362

RESUMO

Our objective was to investigate incidence of amyotrophic lateral sclerosis (ALS) in Sicily, southern Italy, by means of a population based study. We included people with ALS resident in five Sicilian provinces, whose onset occurred in the two-year period 2005-2006 (population at 31 December 2006: 3,481,096 inhabitants). A multisource case-finding procedure was adopted and patients were classified as affected by ALS according to revised El Escorial criteria. During the two-year surveillance period, 97 patients meeting eligibility criteria included 57 males (58.8%) and 40 females (41.2%). Crude annual incidence rate was 1.4/100,000 person years (95% CI 1.33-1.47). The incidence rate was higher in males (1.71/100,000; CI 1.61-1.81) than in females (1.11/100,000; CI 1.01-1.21). Standardized incidence rate for the total population in the 45-74-years-old age group was 3.22 (CI 3.11-3.33). Prevalence rate was 6.0/100,000 (CI 5.97-6.03), higher in males (7.1/100,000; CI 7.02-7.18) than females (4.9/100,000; CI 4.86-4.94). In conclusion, ALS rates observed in the present study are higher in males than females, with a peak of incidence at 70 years of age in both genders. These findings are consistent with those of other population based European studies.


Assuntos
Esclerose Lateral Amiotrófica/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Esclerose Lateral Amiotrófica/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Caracteres Sexuais , Sicília , Adulto Jovem
11.
Front Neurol ; 13: 917527, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35911894

RESUMO

The growing incidence of neurodegenerative disorders in our populations is leading the research to identify potential biomarkers and targets for facilitating their early management and treatments. Biomarkers represent the crucial indicators of both physiological and pathological processes. Specific changes in molecular and cellular mechanisms of physiological processes result in biochemical alterations at systemic level, which can give us comprehensive information regarding the nature of any disease. In addition, any disease biomarker should be specific and reliable, able to consent of distinguishing the physiological condition of a tissue, organ, or system from disease, and be diverse among the various diseases, or subgroups or phenotypes of them. Accordingly, biomarkers can predict chances for diseases, facilitate their early diagnosis, and set guidelines for the development of new therapies for treating diseases and disease-making process. Here, we focus our attention on brain neurotrophic factor (BDNF)-tropomyosin receptor kinase (Trk) pathway, describing its multiple roles in the maintenance of central nervous system (CNS) health, as well as its implication in the pathogenesis of multiple sclerosis (MS). In addition, we also evidence the features of such pathway, which make of it a potential MS biomarker and therapeutic target.

12.
Nutrients ; 14(6)2022 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-35334877

RESUMO

Vitamin D is a fat-soluble secosteroid, traditionally considered a key regulator of bone metabolism, calcium and phosphorous homeostasis. Its action is made possible through the binding to the vitamin D receptor (VDR), after which it directly and indirectly modulates the expression of thousands of genes. Vitamin D is important for brain development, mature brain activity and associated with many neurological diseases, including Parkinson's disease (PD). High frequency of vitamin D deficiency in patients with Parkinson's disease compared to control population was noted nearly twenty years ago. This finding is of interest given vitamin D's neuroprotective effect, exerted by the action of neurotrophic factors, regulation of nerve growth or through protection against cytotoxicity. Vitamin D deficiency seems to be related to disease severity and disease progression, evaluated by Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H&Y) scale, but not with age of PD onset and duration of disease. Additionally, fall risk has been associated with lower vitamin D levels in PD. However, while the association between vitamin D and motor-symptoms seems to be possible, results of studies investigating the association with non-motor symptoms are conflicting. In addition, very little evidence exists regarding the possibility to use vitamin D supplementation to reduce clinical manifestations and disability in patients with PD. However, considering the positive balance between potential benefits against its limited risks, vitamin D supplementation for PD patients will probably be considered in the near future, if further confirmed in clinical studies.


Assuntos
Doença de Parkinson , Deficiência de Vitamina D , Cálcio da Dieta , Humanos , Doença de Parkinson/complicações , Vitamina D , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológico , Vitaminas
13.
Neuroepidemiology ; 36(3): 169-76, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21546778

RESUMO

BACKGROUND: The global burden of neurodegenerative diseases is increasing. Previous studies reported differences related to age, gender and socioeconomic status. We calculated the cognitive performances of a Sicilian population aged 65 years or older, by means of a door-to-door population-based survey in Bagheria city, Sicily. METHODS: A door-to-door survey was carried out in the city of Bagheria, Sicily (prevalence day September 30, 2006). A cohort of 2,200 persons was randomly stratified, obtaining a 25% sample of the whole population. Cognitive function was assessed by Mini Mental State Examination (MMSE). Percentile distributions by age, gender, education and working activity were calculated. Regression models were used to analyze the relationship between the investigated variables and cognitive performance. RESULTS: A total of 1,837 persons agreed to participate (1,062 women and 775 men). Distribution of MMSE showed a highly significant inverse linear trend related to the increasing age (p < 0.0001) and to the degree of education (p < 0.0001), both in men and women. We observed a significant association between higher education and a better cognitive performance (OR 6.91; CI 3.24-14.76) and an inverse association between manual kind of occupation versus not manual and a poorer cognitive status (OR 0.82; CI 0.67-0.997). Height was associated with decreased cognitive performances in women (OR = 1.03; CI = 1.01-1.05) but not in men (OR = 0.997; CI = 0.993-1.002). CONCLUSIONS: These findings provide a feature of cognitive performances in Sicily, measured by MMSE scores in individuals aged 65 years or older.


Assuntos
Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Vigilância da População/métodos , Características de Residência , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Cognição/fisiologia , Estudos de Coortes , Feminino , Humanos , Masculino , Entrevista Psiquiátrica Padronizada , Sicília/epidemiologia
14.
Cerebrovasc Dis ; 32(3): 234-8, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21860236

RESUMO

BACKGROUND: The association between cholesterol levels and hemorrhagic transformation (HT) is still controversial. Studies investigating this issue are influenced by treatments as some are characterized by a higher risk of HT. The aim of our study was to evaluate, in a hospital-based series of patients not treated with thrombolysis, the relationship between cholesterol levels and HT. METHODS: We retrospectively collected information about total cholesterol (TC) and low-density lipoprotein cholesterol (LDLC) levels at admission in a consecutive series of 240 patients with anterior ischemic stroke (IS). The TC and LDLC levels were arranged in 3 groups according to their percentile distribution. RESULTS: TC levels were available for 215 patients (89.6%), while LDLC levels were available for 184 patients (76.7%). The risk of HT significantly increased with decreasing levels of TC (p for trend = 0.03) and LDLC (p for trend = 0.01). In multivariate analysis, the risk of HT was significantly higher in the groups of patients with the lowest TC (OR 2.8, 95% CI 1.0-8.9, p = 0.05) and LDLC (OR 5.0, 95% CI 1.2-20.1, p = 0.002) values compared to those with the highest ones. CONCLUSION: We confirm that lower TC and lower LDLC levels are associated with an increased risk of HT. As none of our patients received thrombolytic therapy, the results of our study provide baseline information about the natural history of HT.


Assuntos
Isquemia Encefálica/complicações , LDL-Colesterol/sangue , Colesterol/sangue , Hemorragias Intracranianas/etiologia , Acidente Vascular Cerebral/complicações , Idoso , Biomarcadores/sangue , Isquemia Encefálica/sangue , Distribuição de Qui-Quadrado , Progressão da Doença , Regulação para Baixo , Feminino , Humanos , Hemorragias Intracranianas/sangue , Itália , Modelos Logísticos , Masculino , Razão de Chances , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Acidente Vascular Cerebral/sangue
15.
Neurol Sci ; 32(3): 469-72, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21234778

RESUMO

Thrombotic thrombocytopenic purpura (TTP) is an autoimmune disorder characterised by fever, microangiopathic haemolytic anaemia, renal insufficiency, and thrombocytopenia. Neurological involvement, a prominent component of TTP, is characterised by a variety of brain lesions which include reversible cerebral oedema or magnetic resonance imaging (MRI) features of reversible posterior leukoencephalopathy syndrome (RPLS). TTP is frequently associated with deficiency of the von Willebrand factor-cleaving protease, ADAMTS13.Here, we report a case of TTP with severe acute encephalopathy. Posterior leukoencephalopathy and brainstem oedema with triventricular hydrocephalus were observed on MRI. The low activity of ADAMTS13 was not observed and ADAMTS-13 antibodies were absent. Neurological symptoms and patient's condition were completely resolved by plasma exchange therapy in addition to high dose of methylprednisolone.


Assuntos
Síndrome da Leucoencefalopatia Posterior/etiologia , Síndrome da Leucoencefalopatia Posterior/terapia , Púrpura Trombocitopênica/complicações , Púrpura Trombocitopênica/terapia , Anti-Inflamatórios/uso terapêutico , Humanos , Masculino , Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , Plasmaferese/métodos , Síndrome da Leucoencefalopatia Posterior/tratamento farmacológico , Púrpura Trombocitopênica/tratamento farmacológico , Resultado do Tratamento
16.
Neurodegener Dis ; 8(4): 155-68, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21212626

RESUMO

Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease. Despite a large amount of research, the pathogenetic mechanism of these diseases has not yet been clarified. Abnormal protein folding, oxidative stress, mitochondrial dysfunction, and apoptotic mechanisms have all been reported as causes of neurodegenerative diseases in association with neuroinflammatory mechanisms which, by generating deleterious molecules, could promote the cascade of events leading to neurodegeneration. Heat shock proteins (HSPs) play a central role in preventing protein misfolding and inhibiting apoptotic activity, and represent a class of proteins potentially involved in PD pathogenesis. The present review will focus on two HSPs, HSP70 and HSP90, with the aim of specifying their role in PD pathogenesis.


Assuntos
Proteínas de Choque Térmico HSP70/metabolismo , Proteínas de Choque Térmico HSP90/metabolismo , Doença de Parkinson/metabolismo , Animais , Proteínas de Choque Térmico/metabolismo , Humanos
17.
Neurol Int ; 13(4): 695-700, 2021 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-34940752

RESUMO

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been associated with several neurological disorders including headache, facial palsy, encephalitis, stroke, demyelinating disorders. The present report will discuss cases of multiple sclerosis (MS) onset and relapse both beginning early after SARS-CoV-2 infection. In both cases, magnetic resonance imaging (MRI) showed widespread bilateral subcortical and periventricular active lesions. Serum IgG against SARS-CoV-2 Spike antigens confirmed seroconversion with titers that are considered not definitely protective against possible reinfection. We hypothesize that SARS-CoV-2 infection, as previously reported for other viruses, could drive an active inflammatory response that can contribute either to the onset of MS or its relapse. The presented data further support the importance of vaccination in individuals with MS.

18.
Transfusion ; 50(12): 2753-60, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20576013

RESUMO

Idiopathic thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS) is a rare disease responsive to treatment with plasma exchange (PE) but with a high percentage of relapse or refractory patients. A severe deficiency of ADAMTS-13 (<5% of normal activity), congenital or caused by an autoantibody, may be specific for TTP and it has been proposed that severe ADAMTS-13 deficiency now defines TTP. B cells play a key role in both the development and the perpetuation of autoimmunity, suggesting that B-cell depletion could be a valuable treatment approach for patients with idiopathic TTP-HUS. This review of the literature focuses on the role of rituximab, a chimeric monoclonal antibody directed against CD20 antigen expressed by B lymphocytes, in patients with relapsing or refractory TTP-HUS with or without ADAMTS-13 deficiency, suggesting that rituximab may produce clinical remission in a significant proportion of patients. Rituximab therapy reduces plasma requirement and avoids complications related to salvage-immunosuppressive therapy. In conclusion, rituximab provides an effective, well-tolerated, and safe treatment option for patients with idiopathic TTP-HUS, thus giving an alternative approach to the current treatment based on PE.


Assuntos
Anticorpos Monoclonais Murinos/fisiologia , Anticorpos Monoclonais Murinos/uso terapêutico , Resistência a Medicamentos , Púrpura Trombocitopênica Trombótica/terapia , Proteínas ADAM/antagonistas & inibidores , Proteínas ADAM/imunologia , Proteína ADAMTS13 , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais Murinos/administração & dosagem , Resistência a Medicamentos/fisiologia , Humanos , Fatores Imunológicos/farmacologia , Fatores Imunológicos/uso terapêutico , Imunoterapia/métodos , Recidiva , Rituximab
20.
Neurol Sci ; 31(1): 75-7, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19812892

RESUMO

Leprosy (Hansen's disease) is a chronic granulomatous infectious disease, caused by Mycobacterium leprae, with cutaneous and neurological manifestations. Leprosy is very rare in Europe but some cases are reported, especially among people coming from endemic areas. Here, we report a case of Hansen's disease and emphasize the importance of a prompt diagnosis and treatment also in non-endemic areas.


Assuntos
Hanseníase/diagnóstico , Hanseníase/terapia , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/terapia , Adolescente , Eletromiografia , Humanos , Hanseníase/fisiopatologia , Masculino , Neurônios Motores/fisiologia , Músculo Esquelético/inervação , Músculo Esquelético/fisiopatologia , Condução Nervosa , Doenças do Sistema Nervoso Periférico/fisiopatologia , Senegal/etnologia , Células Receptoras Sensoriais/fisiologia , Sicília
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