Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 25
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Brain Topogr ; 34(6): 834-839, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34674095

RESUMO

Despite a huge effort of the scientific community, the functioning of Long-Term Memory (LTM) processes is still debated and far from being elucidated. Functional and neurophysiological data point to an involvement of Dorsolateral Prefrontal Cortex (DLPFC) in both encoding and retrieval phases. However, the recently proposed Explicit/Implicit Memory Encoding and Retrieval (EIMER) model proposes that LTM at the encoding phase consists of anatomically and chronologically different sub-phases. On this basis, we aimed to investigate the role of right DLPFC during a late-encoding phase by means of low-frequency rTMS. Thirty right-handed healthy subjects were divided into three experimental groups. Inhibitory rTMS was applied over right-DLPFC immediately after the encoding phase (Late-Encoding Group) or before recognition phase (Pre-Recognition Group), 24 h after, of an LTM task. Both groups also received sham stimulation during the non-target phase, while the third group (Sham Group) received only sham stimulation in both phases. The Late-Encoding Group collected a lower number of correct responses compared with Sham Group (p = 0.00), while Pre-Retrieval Group increased accuracy as compared to the Sham Group (p = 0.0). rTMS-inhibition of the right DLPFC seems able to interfere with LTM memory performances when delivered at a late stage of the encoding phase, with opposite effects at the pre-retrieval phase.

2.
Brain Sci ; 11(3)2021 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-33673569

RESUMO

The involvement of ß-amyloid (Aß) in the pathogenesis of amyotrophic lateral sclerosis (ALS) has been widely discussed and its role in the disease is still a matter of debate. Aß accumulates in the cortex and the anterior horn neurons of ALS patients and seems to affect their survival. To clarify the role of cerebrospinal fluid (CSF) Aß 1-42 and Aß 42/40 ratios as a potential prognostic biomarker for ALS, we performed a retrospective observational study on a cohort of ALS patients who underwent a lumbar puncture at the time of the diagnosis. CSF Aß 1-40 and Aß 1-42 ratios were detected by chemiluminescence immunoassay and their values were correlated with clinical features. We found a significant correlation of the Aß 42/40 ratio with age at onset and Mini Mental State Examination (MMSE) scores. No significant correlation of Aß 1-42 or Aß 42/40 ratios to the rate of progression of the disease were found. Furthermore, when we stratified patients according to Aß 1-42 concentration and the Aß 42/40 ratio, we found that patients with a lower Aß 42/40 ratio showed a shorter survival. Our results support the hypothesis that Aß 1-42 could be involved in some pathogenic mechanism of ALS and we suggest the Aß 42/40 ratio as a potential prognostic biomarker.

3.
Brain Sci ; 11(3)2021 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-33673697

RESUMO

The Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is a neurotropic virus with a high neuroinvasive potential. Indeed, more than one-third of patients develop neurological symptoms, including confusion, headache, and hypogeusia/ageusia. However, long-term neurological consequences have received little interest compared to respiratory, cardiovascular, and renal manifestations. Several mechanisms have been proposed to explain the potential SARS-CoV-2 neurological injury that could lead to the development of neurodegenerative diseases, including Alzheimer's Disease (AD). A mutualistic relationship between AD and COVID-19 seems to exist. On the one hand, COVID-19 patients seem to be more prone to developing AD. On the other hand, AD patients could be more susceptible to severe COVID-19. In this review, we sought to provide an overview on the relationship between AD and COVID-19, focusing on the potential role of biomarkers, which could represent precious tool for early identification of COVID-19 patients at high risk of developing AD.

4.
Eur J Neurol ; 28(6): 1868-1875, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33638255

RESUMO

BACKGROUND AND PURPOSE: To test the hypothesis that total tau (tTau), tau phosphorylated at threonine 181 (pTau) and pTau/tTau ratio in the cerebrospinal fluid (CSF) are diagnostic and prognostic biomarkers of amyotrophic lateral sclerosis (ALS), we performed a retrospective observational study in a large cohort of ALS patients and controls. METHODS: We enrolled 196 ALS patients and 91 controls, who included patients with ALS-mimicking diseases and those with non-neurodegenerative diseases. All patients underwent lumbar puncture for CSF analysis at the time of the diagnostic evaluation or to first referral. We measured tTau and pTau levels in the CSF by chemiluminescence enzyme immunoassay. RESULTS: Patients with ALS showed significantly higher levels of CSF tTau and a lower pTau/tTau ratio than controls (tTau: 245 vs. 146 pg/ml; p < 0.001; pTau/tTau ratio: 0.12 vs. 0.18; p < 0.001, respectively). No differences in pTau levels were detected. Receiver-operating characteristic curve analysis showed a good diagnostic accuracy of tTau and pTau/tTau ratio (tTau: area under the curve [AUC] 0.685, 95% confidence interval [CI] 0.616-0.754, p = 0.039; pTau/tTau ratio: AUC 0.777, 95% CI 0.707-0.848, p < 0.001). Among ALS patients, increased tTau levels were associated with advanced age of onset, increased revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) score (ΔFS) rate of progression, and spinal onset. Multivariate analysis showed that in ALS patients, this biomarker was an independent negative predictor of overall survival. CONCLUSIONS: Our findings suggest that tTau and pTau/tTau ratio can be diagnostic biomarkers of ALS. In addition, CSF tTau level at diagnosis might play a relevant prognostic role in the disease.


Assuntos
Esclerose Amiotrófica Lateral , Proteínas tau , Esclerose Amiotrófica Lateral/diagnóstico , Biomarcadores , Humanos , Prognóstico , Curva ROC
5.
Lab Med ; 52(2): 188-196, 2021 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-32926148

RESUMO

BACKGROUND: In this study, we investigated the possible role of 2 novel biomarkers of synaptic damage, namely, neurogranin and α-synuclein, in Alzheimer disease (AD). METHODS: The study was performed in a cohort consisting of patients with AD and those without AD, including individuals with other neurological diseases. Cerebrospinal fluid (CSF) neurogranin and α-synuclein levels were measured by sensitive enzyme-linked immunosorbent assays (ELISAs). RESULTS: We found significantly increased levels of CSF neurogranin and α-synuclein in patients with AD than those without AD. Neurogranin was correlated with total tau (tTau) and phosphorylated tau (pTau), as well as with cognitive decline, in patients with AD. Receiver operating characteristic (ROC) curve analysis showed good diagnostic accuracy of neurogranin for AD at a cutoff point of 306 pg per mL with an area under the curve (AUC) of 0.872 and sensitivity and specificity of 84.2% and 78%, respectively. CONCLUSIONS: Our findings support the use of CSF neurogranin as a biomarker of synapsis damage in patients with AD.


Assuntos
Doença de Alzheimer/diagnóstico , Biomarcadores/líquido cefalorraquidiano , Neurogranina/líquido cefalorraquidiano , Idoso , Doença de Alzheimer/líquido cefalorraquidiano , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e Especificidade , alfa-Sinucleína/líquido cefalorraquidiano
6.
Front Psychol ; 11: 2083, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32973626

RESUMO

In the last decade, scientific literature provided solid evidence of cognitive deficits in amyotrophic lateral sclerosis (ALS) patients and their effects on end-life choices. However, moral cognition and judgment are still poorly investigated in this population. Here we aimed at evaluating both socio-cognitive and socio-affective components of moral reasoning in a sample of 28 ALS patients. Patients underwent clinical and neuropsychological evaluation including basic cognitive and social cognition measures. Additionally, we administered an experimental task including moral dilemmas, with instrumental and incidental conditions. Patients' performances were compared with a control group [healthy control (HC)], including 36 age-, gender-, and education-matched healthy subjects. Despite that the judgment pattern was comparable in ALS and HC, patients resulted less prone to carry out a moral transgression compared to HC. Additionally, ALS patients displayed higher levels of moral permissibility and lower emotional arousal, with similar levels of engagement in both instrumental and incidental conditions. Our findings expanded the current literature about cognitive deficits in ALS, showing that in judging moral actions, patients may present non-utilitarian choices and emotion flattening. Such a decision-making profile may have relevant implications in applying moral principles in real-life situations and for the judgment of end-of-life treatments and care in clinical settings.

7.
Behav Brain Res ; 390: 112668, 2020 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-32434751

RESUMO

Gambling disorder (GD) is a psychiatric disease that has been recently classified as a behavioural addiction. So far, a very few studies have investigated the alteration of functional connectivity in GD patients, thus the concrete interplay between relevant function-dependent circuitries in such disease has not been comprehensively assessed. The aim of this research was to investigate resting-state functional connectivity in GD patients, searching for a correlation with GD symptoms severity. GD patients were assessed for gambling behaviour, impulsivity, cognitive distortions, anxiety and depression, in comparison with healthy controls (HC). Afterwards, they were assessed for resting-state functional magnetic resonance imaging; functional connectivity was assessed through a data-driven approach, by using independent component analysis. The correlation between gambling severity and the strength of specific resting-state networks was also investigated. Our results show that GD patients displayed higher emotional and behavioural impairment than HC, together with an increased resting state functional connectivity in the network including anterior cingulate cortex, the caudate nucleus and nucleus accumbens, and within the cerebellum, in comparison with the control group. Moreover, a significant correlation between behavioural parameters and the strength of the resting-state cerebellar network was found. Overall, the functional alterations in brain connectivity involving the cerebellum observed in this study underpin the emotional and behavioural impairment recorded in GD patients. This evidence suggests the employment of novel neuromodulatory therapeutic approaches involving specific and salient targets such as the cerebellum in addictive disorders.

8.
Scand J Clin Lab Invest ; 80(4): 313-317, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32255379

RESUMO

In the last decades, an important role of cerebrospinal fluid (CSF) biomarkers for Alzheimer disease (AD) diagnosis has emerged. The evaluation of the triad consisting of 42 aminoacid-long amyloid-beta peptide (Aß42), total Tau (tTau) and Tau phosphorylated at threonine 181 (pTau) have been recently integrated into the research diagnostic criteria of AD. For a long time, the enzyme-linked immunosorbent assay (ELISA) has represented the most commonly used method for the measurement of CSF biomarkers levels. This study aimed to assess the diagnostic accuracy of CSF biomarkers, namely Aß42, tTau and pTau and their ratio, measured by fully automated CLEIA assay (Lumipulse). We included 96 patients clinically diagnosed as AD (48) and non-AD (48). All CSF biomarkers levels were measured on Lumipulse G1200 fully automated platform (Fujirebio Inc. Europe, Gent, Belgium). Aß42 levels, 42/40 ratio, 42/tTau ratio, 42/PTau ratio were significantly reduced, and tTau and PTau levels were significantly increased in AD patients in comparison with non-AD patients. The receiving operator curve (ROC) analysis showed good diagnostic accuracy of all CSF biomarkers and their ratios for discriminating AD patients from non-AD patients, with 42/40 ratio having the best AUC (0.724, 95%CI 0.619-0.828; p < 0.001). Our findings support the use of CSF biomarkers measured by CLEIA method on a fully automated platform for AD diagnosis.


Assuntos
Doença de Alzheimer/diagnóstico , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Ensaio de Imunoadsorção Enzimática/métodos , Medições Luminescentes/métodos , Fragmentos de Peptídeos/líquido cefalorraquidiano , Proteínas tau/líquido cefalorraquidiano , Idoso , Doença de Alzheimer/líquido cefalorraquidiano , Área Sob a Curva , Automação Laboratorial , Biomarcadores/líquido cefalorraquidiano , Estudos de Casos e Controles , Ensaio de Imunoadsorção Enzimática/instrumentação , Feminino , Humanos , Medições Luminescentes/instrumentação , Masculino , Pessoa de Meia-Idade , Fosforilação , Curva ROC
9.
J Neuroimaging ; 29(3): 383-393, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30714241

RESUMO

BACKGROUND AND PURPOSE: While AD can be definitively confirmed by postmortem histopathologic examination, in vivo imaging may improve the clinician's ability to identify AD at the earliest stage. The aim of the study was to test the performance of amyloid PET using new processing imaging algorithm for more precise diagnosis of AD. METHODS: Amyloid PET results using a new processing imaging algorithm (MRI-Less and AAL Atlas) were correlated with clinical, cognitive status, CSF analysis, and other imaging. The regional SUVR using the white matter of cerebellum as reference region and scores from clinical and cognitive tests were used to create ROC curves. Leave-one-out cross-validation was carried out to validate the results. RESULTS: Forty-four consecutive patients with clinical evidence of dementia, were retrospectively evaluated. Amyloid PET scan was positive in 26/44 patients with dementia. After integration with 18F-FDG PET, clinical data and CSF protein levels, 22 of them were classified as AD, the remaining 4 as vascular or frontotemporal dementia. Amyloid and FDG PET, CDR 1, CSF Tau, and p-tau levels showed the best true positive and true negative rates (amyloid PET: AUC = .85, sensitivity .91, specificity .79). A SUVR value of 1.006 in the inferior frontal cortex and of 1.03 in the precuneus region was the best cutoff SUVR value and showed a good correlation with the diagnosis of AD. Thirteen of 44 amyloid PET positive patients have been enrolled in clinical trials using antiamyloid approaches. CONCLUSIONS: Amyloid PET using SPM-normalized SUVR analysis showed high predictive power for the differential diagnosis of AD.


Assuntos
Doença de Alzheimer/diagnóstico por imagem , Compostos de Anilina , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Estilbenos , Idoso , Doença de Alzheimer/patologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Sensibilidade e Especificidade
10.
NeuroRehabilitation ; 41(2): 567-575, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28946572

RESUMO

BACKGROUND: Noninvasive transcranial stimulation methods have been increasingly employed in order to improve cognitive performance in neurological patients. In previous studies with both stroke patients and healthy subjects, noninvasive stimulation of temporal-parietal regions and their homologue produced an improvement in linguistic tasks. OBJECTIVE: The aim of the current study was to evaluate if anodal transcranial direct current stimulation (tDCS) over Brodmann areas 39/40 (angular and supramarginal gyri) could promote the recovery of linguistic functions, in particular comprehension and naming, in a single patient affected by dementia. METHODS: Three preliminary explorative single sessions (right-side anodal, left-side anodal and sham tDCS) were carried out (Experiment 1). This procedure allows targeting the more effective site of stimulation for the treatment. Subsequently, we carried out a five-days tDCS treatment on the selected hemisphere (Experiment 2). RESULTS: We report verb comprehension amelioration after 5 days of anodal tDCS over the right BAs 39/40 compared with the placebo tDCS. This result is maintained until two weeks after the end of the 5-days treatment. CONCLUSIONS: Our findings provide new evidence for the therapeutic use of tDCS in degenerative diseases, suggesting that an explorative study can be useful for targeting the more appropriate stimulation site, and confirm the involvement of right-sided areas associated with language activities.


Assuntos
Percepção Auditiva/fisiologia , Córtex Cerebral/fisiologia , Compreensão/fisiologia , Demência , Estimulação Transcraniana por Corrente Contínua , Idoso , Afasia/diagnóstico por imagem , Afasia/etiologia , Afasia/fisiopatologia , Afasia/terapia , Encéfalo/diagnóstico por imagem , Demência/complicações , Demência/diagnóstico por imagem , Demência/fisiopatologia , Demência/terapia , Feminino , Humanos , Plasticidade Neuronal
12.
Front Psychiatry ; 7: 133, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27551268

RESUMO

BACKGROUND: Chronic cocaine consumption is associated with a decrease in mesolimbic dopamine transmission that maintains drug intake. transcranial magnetic stimulation (TMS) is gaining reliability, a useful therapeutic tool in drug addiction, since it can modulate cortico-limbic activity resulting in reduction of drug craving. AIMS: In the present study, we investigated the therapeutic effect of bilateral TMS of prefrontal cortex (PFC) in reducing cocaine intake, in a sample of treatment-seeking patients with current cocaine use disorder (DSM-V). METHODS: Ten cocaine addicts (DSM-V) were randomly assigned to the active or sham stimulation protocol in a double-blind experimental design. Twelve repetitive TMS (rTMS) sessions were administered three times a week for 4 weeks at 100% of motor threshold, over bilateral PFC. Cocaine intake (ng/mg) was assessed by hair analysis at baseline (before treatment, T0), after 1 month (end of treatment, T1), 3 (T2), and 6 (T3) months later. All subjects received psychological support weekly. RESULTS: The two-way ANOVA for repeated measures did not show a significant effect of the interaction between time and treatment (F 4,32 = 0.35; p = 0.87). Despite that result indicated no difference in the effect of the two conditions (active vs. sham) along time, a decreasing trend in cocaine consumption in active TMS group (F 3,23 = 3.42; p = 0.04) vs. sham (F 3,15 = 1.88; p = 0.20) was observed when we performed exploratory analysis with time as factor. Indeed, Post hoc comparisons showed a significant reduction in the amount of cocaine detected from the onset to 3 months later (T0-T2; p = 0.02) and to the end of treatment (T0-T3; p = 0.01) in addicts from the active group. CONCLUSION: Bilateral rTMS of PFC at 10 Hz did not show a significant effect on cocaine intake compared to sham. However, a long-term reduction on cocaine intake in active TMS-treated patients was observed when we considered the time as factor. Further studies are required to confirm these encouraging but preliminary findings, in order to consolidate rTMS as a valid tool to treat cocaine addiction.

14.
PLoS One ; 10(4): e0123354, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25848951

RESUMO

INTRODUCTION: The default mode network and the working memory network are known to be anti-correlated during sustained cognitive processing, in a load-dependent manner. We hypothesized that functional connectivity among nodes of the two networks could be dynamically modulated by task phases across time. METHODS: To address the dynamic links between default mode network and the working memory network, we used a delayed visuo-spatial working memory paradigm, which allowed us to separate three different phases of working memory (encoding, maintenance, and retrieval), and analyzed the functional connectivity during each phase within and between the default mode network and the working memory network networks. RESULTS: We found that the two networks are anti-correlated only during the maintenance phase of working memory, i.e. when attention is focused on a memorized stimulus in the absence of external input. Conversely, during the encoding and retrieval phases, when the external stimulation is present, the default mode network is positively coupled with the working memory network, suggesting the existence of a dynamically switching of functional connectivity between "task-positive" and "task-negative" brain networks. CONCLUSIONS: Our results demonstrate that the well-established dichotomy of the human brain (anti-correlated networks during rest and balanced activation-deactivation during cognition) has a more nuanced organization than previously thought and engages in different patterns of correlation and anti-correlation during specific sub-phases of a cognitive task. This nuanced organization reinforces the hypothesis of a direct involvement of the default mode network in cognitive functions, as represented by a dynamic rather than static interaction with specific task-positive networks, such as the working memory network.


Assuntos
Memória de Curto Prazo , Adulto , Córtex Cerebral/fisiologia , Conectoma , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Adulto Jovem
15.
ACS Chem Neurosci ; 5(9): 837-47, 2014 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-25058565

RESUMO

Beta-amyloid accumulation in brain is a driving force for Alzheimer's disease pathogenesis. Apolipoprotein E (ApoE) represents a critical player in beta-amyloid homeostasis, but its role in disease progression is controversial. We previously reported that the acute-phase protein haptoglobin binds ApoE and impairs its function in cholesterol homeostasis. The major aims of this study were to characterize the binding of haptoglobin to beta-amyloid, and to evaluate whether haptoglobin affects ApoE binding to beta-amyloid. Haptoglobin is here reported to form a complex with beta-amyloid as shown by immunoblotting experiments with purified proteins, or by its immunoprecipitation in brain tissues from patients with Alzheimer's disease. The interaction between ApoE and beta-amyloid was previously shown to be crucial for limiting beta-amyloid neurotoxicity and for promoting its clearance. We demonstrate that haptoglobin, rather than impairing ApoE binding to beta-amyloid, promotes to a different extent the formation of the complex between beta-amyloid and ApoE2 or ApoE3 or ApoE4. Our data suggest that haptoglobin and ApoE functions in brain should be evaluated taking into account their mutual interaction with beta-amyloid. Hence, the risk of developing Alzheimer's disease might not only be linked to the different ApoE isoforms, but also rely on the level of critical ligands, such as haptoglobin.


Assuntos
Peptídeos beta-Amiloides/metabolismo , Apolipoproteínas E/metabolismo , Encéfalo/metabolismo , Haptoglobinas/metabolismo , Adulto , Idoso , Doença de Alzheimer/líquido cefalorraquidiano , Doença de Alzheimer/patologia , Peptídeos beta-Amiloides/genética , Precursor de Proteína beta-Amiloide/genética , Análise de Variância , Animais , Células CHO , Cricetulus , Ensaio de Imunoadsorção Enzimática , Feminino , Haptoglobinas/genética , Humanos , Imunoprecipitação , Masculino , Pessoa de Meia-Idade , Mutação/genética , Ligação Proteica/efeitos dos fármacos , Ligação Proteica/fisiologia , Transfecção
17.
Int Psychogeriatr ; 24(11): 1827-35, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22652066

RESUMO

BACKGROUND: Knowledge about sleep complaints of caregivers of patients with Alzheimer's disease (AD) and Parkinson's disease (PD) is limited, and we lack information about the relationship between caregivers' sleep problems and their quality of life (QoL). METHODS: We evaluated subjective sleep quality and its relationship to QoL in a group of 80 caregivers of patients with AD (ADCG, n = 40) and PD (PDCG, n = 40), and in 150 controls. Information about night-time complaints was collected using the Pittsburgh Sleep Quality Index (PSQI). QoL was measured using the McGill QoL Questionnaire. RESULTS: Eighteen ADCG (45%), 22 PDCG (55%), and 45 (30%) controls reported poor sleep quality. Mean global PSQI score of PDCG (6.25 ± 3.9) was not significantly different from that of ADCG (5.8 ± 3.5; p = 0.67). However, both PDCG and ADCG scored significantly higher than control group (4.3 ± 3.1; p < 0.01). ADCG frequently reported difficulties falling asleep (72.5%) and disturbed sleep (100%). PDCG reported reduced subjective sleep quality (80%) and increased sleep disturbances (100%). Poor sleep quality was associated with depressive symptoms and correlated with QoL in caregivers of both groups, particularly the psychological symptoms domain. CONCLUSIONS: Among caregivers of patients with AD and PD, poor sleep quality is frequent and significantly linked to QoL and depressive symptoms. Identifying the nature of sleep disturbances not only in patients but also in their caregivers is important as appropriate treatment may lead to a better management of the needs of families coping with these patients.


Assuntos
Cuidadores , Depressão , Qualidade de Vida/psicologia , Transtornos do Sono-Vigília , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/psicologia , Cuidadores/psicologia , Cuidadores/estatística & dados numéricos , Efeitos Psicossociais da Doença , Depressão/epidemiologia , Depressão/etiologia , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/psicologia , Análise de Regressão , Autorrelato , Índice de Gravidade de Doença , Perfil de Impacto da Doença , Privação do Sono/epidemiologia , Privação do Sono/etiologia , Privação do Sono/psicologia , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/psicologia , Estresse Psicológico/complicações , Inquéritos e Questionários
18.
J Neurol Sci ; 288(1-2): 96-100, 2010 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-19875132

RESUMO

Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12-18% of sporadic cases. The phenotype associated with HSP due to mutations in the SPG4 gene tends to be pure. There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. A cohort of 38 unrelated Italian patients with spastic paraplegia, of which 24 had a clear dominant inheritance and 14 were apparently sporadic, were screened for mutations in the SPG4 gene. We identified 11 different mutations, six of which were novel (p.Glu143GlyfsX8, p.Tyr415X, p.Asp548Asn, c.1656_1664delinsTGACCT, c.1688-3C>G and c.*2G>T) and two exon deletions previously reported. The overall rate of SPG4 gene mutation in our patients was 36.8% (14/38); in AD-HSP we observed a mutation frequency of 45.8% (11/24), in sporadic cases the frequency was 21.4% (3/14). Furthermore, we found a mutational rate of 22.2% (2/9) and 41.4% (12/29) in the complicated and pure forms, respectively. The results underlie the importance of genetic testing in all affected individuals.


Assuntos
Adenosina Trifosfatases/genética , Paraplegia/genética , Regiões 3' não Traduzidas/genética , Adolescente , Adulto , Idoso , Criança , Cromatografia Líquida de Alta Pressão , Estudos de Coortes , Análise Mutacional de DNA , Éxons , Feminino , Deleção de Genes , Genótipo , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/genética , Fenótipo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Espastina , Adulto Jovem
19.
Magn Reson Imaging ; 27(8): 1120-30, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19261423

RESUMO

Functional magnetic resonance imaging (fMRI) and electroencephalography (EEG) represent brain activity in terms of a reliable anatomical localization and a detailed temporal evolution of neural signals. Simultaneous EEG-fMRI recordings offer the possibility to greatly enrich the significance and the interpretation of the single modality results because the same neural processes are observed from the same brain at the same time. Nonetheless, the different physical nature of the measured signals by the two techniques renders the coupling not always straightforward, especially in cognitive experiments where spatially localized and distributed effects coexist and evolve temporally at different temporal scales. The purpose of this article is to illustrate the combination of simultaneously recorded EEG and fMRI signals exploiting the principles of EEG distributed source modeling. We define a common source space for fMRI and EEG signal projection and gather a conceptually unique framework for the spatial and temporal comparative analysis. We illustrate this framework in a graded-load working-memory simultaneous EEG-fMRI experiment based on the n-back task where sustained load-dependent changes in the blood-oxygenation-level-dependent (BOLD) signals during continuous item memorization co-occur with parametric changes in the EEG theta power induced at each single item. In line with previous studies, we demonstrate on two single-subject cases how the presented approach is capable of colocalizing in midline frontal regions two phenomena simultaneously observed at different temporal scales, such as the sustained negative changes in BOLD activity and the parametric EEG theta synchronization. We discuss the presented approach in relation to modeling and interpretation issues typically arising in simultaneous EEG-fMRI studies.


Assuntos
Mapeamento Encefálico/métodos , Eletroencefalografia/métodos , Potenciais Evocados Visuais/fisiologia , Imageamento por Ressonância Magnética/métodos , Modelos Neurológicos , Reconhecimento Visual de Modelos/fisiologia , Córtex Visual/fisiologia , Adulto , Simulação por Computador , Humanos , Interpretação de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/instrumentação , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
20.
Chest ; 132(1): 64-9, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-17475635

RESUMO

OBJECTIVE: To determine whether the amyotrophic lateral sclerosis functional rating scale (ALSFRS), which is a validated instrument that assesses the functional status and the disease progression in patients with amyotrophic lateral sclerosis (ALS), predicts hospital length of stay and survival time in ALS patients treated with tracheostomy-intermittent positive-pressure ventilation (TIPPV). METHODS: Thirty-three consecutive ALS patients with acute respiratory failure who received therapy with TIPPV were prospectively followed up from their admission to the hospital until death. The association of ALSFRS score at hospital admission with length of hospital stay and survival after TIPPV were examined using Cox proportional hazard models, adjusting for age at baseline, sex, and symptom duration. RESULTS: The median ALSFRS score of the ALS patients at hospital admission was 11 (range, 4 to 22). The median length of hospital stay was 55 days (range, 7 to 124 days), with a hospital mortality rate of 9%. For the 30 patients (91%) discharged from the hospital, the median survival time was 37 months (range, 2 to 64 months). The total ALSFRS score (above or below the median score) was a significant predictor of length of hospital stay (hazard ratio [HR], 2.86; 95% confidence interval [CI], 1.2 to 6.5; p = 0.003) and survival after TIPPV (HR, 3.76; 95% CI, 1.4 to 9.7; p = 0.002). The total ALSFRS score at hospital admission was also associated with length of hospital stay (HR, 2.1; 95% CI, 1.1 to 5.1; p = 0.005) and survival (HR, 0.52; 95% CI, 0.1 to 0.8; p = 0.002) when included in a Cox multivariable model together with the other demographic and clinical variables. CONCLUSION: In ALS patients with acute respiratory failure who have been treated with TIPPV, the total ALSFRS score may predict length of hospital stay and long-term survival after invasive mechanical ventilation.


Assuntos
Esclerose Amiotrófica Lateral/mortalidade , Esclerose Amiotrófica Lateral/terapia , Ventilação com Pressão Positiva Intermitente/métodos , Índice de Gravidade de Doença , Doença Aguda , Idoso , Esclerose Amiotrófica Lateral/complicações , Progressão da Doença , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Modelos de Riscos Proporcionais , Estudos Prospectivos , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/mortalidade , Insuficiência Respiratória/terapia , Perfil de Impacto da Doença
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...