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1.
JAMA ; 322(13): 1315, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31573629
2.
JAMA ; 322(13): 1315-1316, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31573635
3.
Zhonghua Er Ke Za Zhi ; 57(10): 780-785, 2019 Oct 02.
Artigo em Chinês | MEDLINE | ID: mdl-31594065

RESUMO

Objective: To summarize the clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation. Methods: The clinical data, gene variation and treatment outcome of 12 children with focal epilepsy caused by GATOR1 complex gene variation admitted to Beijing Children's Hospital Affiliated to Capital Medical University from June 2016 to October 2018 were retrospectively analyzed. Results: There were 7 males and 5 females in 12 cases. The epilepsy onset age was 5.5 (3.0, 12.0) months, and from 11 days to 16 months of age. The epileptic seizure types were all focal motor seizures, and one case combined with epileptic spasms. The frequency of seizures in all patients was more than one time per day. Seven cases had frontal lobe epilepsy and two cases had lateral temporal lobe epilepsy. One case had a family history of febrile seizures and two had a family history of suspicious epilepsy. Epileptic form discharges were observed in 9 patients during the interictal phase by electroencephalograms (EEG), and all of them were focal discharges. Eight cases had clinical seizures detected by EEG, in 4 of whom the seizures were originated in frontal region. There were no abnormalities in brain magnetic resonance imaging in 11 cases whereas 1 case had malformation of cortical development of left frontal lobe. Eight patients had DEPDC5 gene variation, one had NPRL2 gene variation, three had NPRL3 gene variation. One case had de novo variation and the other 11 had hereditary variation. There were 11 types of gene variation, including 5 nonsense variations, 3 missense variations, 2 frame shift variations and 1 in frame deletion variation. There was no clear relationship between the clinical phenotype and the genotype. During the follow-up period from 6 months to 2 years and 6 months, 6 cases had seizure control, 3 of them were controlled by oxcarbazepine. The other 6 cases had drug-refractory epilepsy, 2 of them failed with vagus nerve stimulation and ketogenic dietary therapy as well, meanwhile combined with mental retardation. Conclusions: GATOR1 complex gene variation can lead to genetic focal epilepsy, which usually has early onset with frequent seizures. Most of the patients have focal epileptic form discharges on EEG, and there is usually no structural lesion in brain imaging. Most of the patients have hereditary loss-of-function variations. Approximately half of cases are drug-resistant epilepsy.


Assuntos
Epilepsias Parciais/genética , Proteínas Ativadoras de GTPase/genética , Proteínas Repressoras/genética , Proteínas Supressoras de Tumor/genética , Grupo com Ancestrais do Continente Asiático/genética , Eletroencefalografia , Epilepsias Parciais/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Convulsões/complicações , Convulsões/genética
4.
Beijing Da Xue Xue Bao Yi Xue Ban ; 51(5): 824-828, 2019 Oct 18.
Artigo em Chinês | MEDLINE | ID: mdl-31624384

RESUMO

OBJECTIVE: To summarize the clinical, video electroencephalogram (VEEG), radiological and pathological features of 3 patients of temporal lobe epilepsy (TLE) with amygdala enlargement (AE). METHODS: Three TLE patients with AE who were hospitalized in Peking University International Hospital were collected. The above features were retrospectively analyzed, and the amygdala volume was measured as well. RESULTS: Of all the 3 patients, 2 were females and 1 male, whose seizure onset ages varied from 21 to 40 years. Two cases presented with secondarily generalized tonicclonic seizures after falling asleep during the night. One of the 2 cases had complex partial seizures (CPSs) with episodic memory and automatism after one year, and the third one had CPSs with lip smacking and tongue wagging during the night. All the patients suffered from obvious anxious disorder. Unilateral AE by MRI was demonstrated in the 3 cases, one on the right side, and the other two on the left side. The average amygdala volume of the enlarged side and the other side were (2 123.7±131.8) mm3 and (1 276.3±156.9) mm3, respectively. Unilateral interictal epileptic discharges were ipsilateral to the AE in 2 cases, while the other patient showed bilateral interictal epileptic discharges. The ictal VEEG showed that the seizure onset zone was ipsilateral to the AE and was confined to the anterior and middle temporal regions in the 3 patients. The interictal single-photon emission computed tomography (SPECT) was negative in 2 cases. The interictal positron emission tomography (PET) showed hypometabolism in the AE in one case. The histological pathology revealed focal cortical dysplasia in the amygdala and temporal lobe in the 3 cases, and one of the 3 cases was combined with hippocampal sclerosis. All the patients became seizure free after surgery in the half year following-up. VEEG revealed slow wave activity and occasional spike wave in the operated side. CONCLUSION: AE may be one subtype of TLE. It is necessary to recognize AE in TLE with MRI-negative. For those poorly responsive to antiepileptic drugs, surgical treatment could provide a better solution. Focal cortical dysplasia may be one of the most common pathological features of TLE with AE.


Assuntos
Tonsila do Cerebelo , Epilepsia do Lobo Temporal , Adulto , Eletroencefalografia , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Estudos Retrospectivos , Lobo Temporal , Adulto Jovem
5.
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi ; 36(5): 705-710, 2019 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-31631617

RESUMO

Attention can concentrate our mental resources on processing certain interesting objects, which is an important mental behavior and cognitive process. Recognizing attentional states have great significance in improving human's performance and reducing errors. However, it still lacks a direct and standardized way to monitor a person's attentional states. Based on the fact that visual attention can modulate the steady-state visual evoked potential (SSVEP), we designed a go/no-go experimental paradigm with 10 Hz steady state visual stimulation in background to investigate the separability of SSVEP features modulated by different visual attentional states. The experiment recorded the EEG signals of 15 postgraduate volunteers under high and low visual attentional states. High and low visual attentional states are determined by behavioral responses. We analyzed the differences of SSVEP signals between the high and low attentional levels, and applied classification algorithms to recognize such differences. Results showed that the discriminant canonical pattern matching (DCPM) algorithm performed better compared with the linear discrimination analysis (LDA) algorithm and the canonical correlation analysis (CCA) algorithm, which achieved up to 76% in accuracy. Our results show that the SSVEP features modulated by different visual attentional states are separable, which provides a new way to monitor visual attentional states.


Assuntos
Atenção , Potenciais Evocados Visuais , Estimulação Luminosa , Algoritmos , Eletroencefalografia , Humanos
6.
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi ; 36(5): 856-861, 2019 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-31631636

RESUMO

Brain-computer interface (BCI) provides a direct communicating and controlling approach between the brain and surrounding environment, which attracts a wide range of interest in the fields of brain science and artificial intelligence. It is a core to decode the electroencephalogram (EEG) feature in the BCI system. The decoding efficiency highly depends on the feature extraction and feature classification algorithms. In this paper, we first introduce the commonly-used EEG features in the BCI system. Then we introduce the basic classical algorithms and their advanced versions used in the BCI system. Finally, we present some new BCI algorithms proposed in recent years. We hope this paper can spark fresh thinking for the research and development of high-performance BCI system.


Assuntos
Algoritmos , Interfaces Cérebro-Computador , Eletroencefalografia , Reconhecimento Automatizado de Padrão , Encéfalo/fisiologia , Humanos
7.
Sheng Li Xue Bao ; 71(5): 760-768, 2019 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-31646330

RESUMO

Obstructive sleep apnea (OSA) is a common clinic sleep disorder, and characterized by obstruction of upper airway during sleep, resulting in sleep fragmentation and intermittent hypoxemia. We reviewed the brain imaging studies in OSA patients compared with healthy subjects, including studies of functional magnetic resonance imaging (fMRI) and electroencephalography (EEG). The resting-state EEG studies showed increased power of δ and θ in the front and central regions of the cerebral cortex in OSA patients. While resting-state fMRI studies demonstrated altered large-scale networks in default-mode network (DMN), central executive network (CEN) and salience network (SN). Evidence from resting-state studies of both fMRI and EEG focused on the abnormal activity in prefrontal cortex (PFC), which is correlated with OSA severity. These findings suggested that the PFC may play a key role in the abnormal function of OSA patients. Finally, based on the perspectives of treatment effect, multimodal data acquisition, and comorbidities, we discussed the future research direction of the neuroimaging study of OSA.


Assuntos
Mapeamento Encefálico , Encéfalo/diagnóstico por imagem , Apneia Obstrutiva do Sono/diagnóstico por imagem , Eletroencefalografia , Humanos , Imagem por Ressonância Magnética
8.
N Engl J Med ; 381(17): 1644-1652, 2019 10 24.
Artigo em Inglês | MEDLINE | ID: mdl-31597037

RESUMO

Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug tailored to a particular patient. Proof-of-concept experiments in cell lines from the patient served as the basis for launching an "N-of-1" study of milasen within 1 year after first contact with the patient. There were no serious adverse events, and treatment was associated with objective reduction in seizures (determined by electroencephalography and parental reporting). This study offers a possible template for the rapid development of patient-customized treatments. (Funded by Mila's Miracle Foundation and others.).


Assuntos
Proteínas de Membrana Transportadoras/genética , Mutagênese Insercional , Lipofuscinoses Ceroides Neuronais/tratamento farmacológico , Lipofuscinoses Ceroides Neuronais/genética , Oligonucleotídeos Antissenso/uso terapêutico , Medicina de Precisão , Doenças Raras/tratamento farmacológico , Biópsia , Criança , Desenvolvimento Infantil , Descoberta de Drogas , Drogas em Investigação/uso terapêutico , Eletroencefalografia , Feminino , Humanos , Testes Neuropsicológicos , RNA Mensageiro , Convulsões/diagnóstico , Convulsões/tratamento farmacológico , Pele/patologia , Sequenciamento Completo do Genoma
9.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 44(8): 885-891, 2019 Aug 28.
Artigo em Chinês | MEDLINE | ID: mdl-31570675

RESUMO

OBJECTIVE: To evaluate the impact of admission diagnosis on seizure outcome in patients with autoimmune epilepsy (AE).
 Methods: We conducted a retrospective study on 40 AE patients at Department of Neurology, Xiangya Hospital, Central South University from Jan. 1st, 2017 to Nov. 21st, 2018. According to their admission diagnosis, these patients were further assigned into 2 groups: An AE diagnosed group and an AE undiagnosed group. Demographic data, clinical characteristics, cerebrospinal fluid (CSF), electroencephalogram, and brain imaging were compared between the 2 groups. Favorable seizure outcome was defined as >50% reduction of seizure frequency at the first follow-up. The impact of admission diagnosis on seizure outcome of AE patients was analyzed.
 Results: The ages of 40 AE patients were (33.23±16.41) years, comprising 19 males and 21 females. No significant difference was found between the AE diagnosed group and the AE undiagnosed group in gender, age, central nervous system-specific Ab profile, CSF, and brain imaging. Duration of symptom onset to Ab detection was significantly longer in the AE undiagnosed group than that in the AE diagnosed group (P<0.01). Duration of symptom onset to immunotherapy was also significantly longer in the AE undiagnosed group than that in the AE diagnosed group (P<0.001). There were more patients with favorable seizure outcome in the AE diagnosed group than the AE undiagnosed group (P<0.05).
 Conclusion: Admission diagnosis for patients with AE is associated with seizure outcome after immunotherapy. For adult-onset epilepsy or epilepsy with unknown etiology, the diagnosis of AE should be considered. Early diagnosis of AE and prompt initiation of immunosuppressive treatment are crucial to increase the likelihood of achieving favorable seizure outcome.


Assuntos
Epilepsia , Adolescente , Adulto , Eletroencefalografia , Feminino , Humanos , Imunoterapia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Convulsões , Adulto Jovem
10.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 44(8): 892-897, 2019 Aug 28.
Artigo em Chinês | MEDLINE | ID: mdl-31570676

RESUMO

OBJECTIVE: To analyze clinical features of mah-jong reflex epilepsy, and to explore the underlying mechanisms.
 Methods: The clinical data of 15 patient (a study group), who visited in the outpatient department in the Third Xiangya Hospital, Central South University from 2016 to 2018, were collected and analyzed. The clinical data included disease history, 24 h- electroencephalography (EEG) and magnetic resonance imaging (MRI) scan. Next, previous 84 case (a literature group) reports published in the past 20 years were searched and compared.
 Results: Both groups of mah-jong reflex epilepsy were predominant in middle-aged men, with onset ages of (44.53±10.58) and (41.48±17.85) years old, respectively. In the study group, time interval usually lasted (4.00±2.45) h from starting play mah-jong to seizure attack, 73.3% patients complained mental fatigue before seizure attack, and 93.3% of the patients were described to have general tonic-clonic seizure. Few positive result was discovered in auxiliary examination, and the percentage was 9.3% in EEG, while no positive outcome was seen in head MRI. There were no significant differences in gender, age of onset, duration of playing mah-jong before attack, type of attack, and changes of head MRI between the 2 groups (all P>0.05).
 Conclusion: Mental fatigue after long-time mah-jong playing and cognitive dysfunction might be the potential triggers in mah-jong reflex epilepsy.


Assuntos
Epilepsia Reflexa , Adulto , Eletroencefalografia , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Convulsões
12.
Medicine (Baltimore) ; 98(40): e17401, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31577750

RESUMO

BACKGROUND: Epileptiform discharges in electroencephalogram (EEG) have been frequently reported in children undergoing sevoflurane mask induction. However, the incidence, characteristics and risk factors of these epileptiform patterns during sevoflurane anesthesia in children are poorly understood. The aim of this study is to systematically review the epileptic potential of sevoflurane in children with the EEG monitoring. METHODS: PubMed, EMBASE, Cochrane library (Central) will be systematically searched from inception to December 2018. The effect of sevoflurane on epileptic EEG patters in children will be studied. The primary outcome will be the incidence of epileptic discharges, the characteristics and risk factors of these epileptic discharges. Meta-analysis will be calculated using R software 3.5.1. RESULTS: This study will offer new evidence of the incidence, characteristics and risk factors of EEG epileptic discharges during sevoflurane anesthesia. CONCLUSION: The conclusion drawn from this systematic review will benefit the children with or without epilepsy undergoing sevoflurane anesthesia. ETHICS AND DISSEMINATION: Ethics approval is unnecessary because data of individual patients will not be included and no privacy will be involved. The results of this review will be published in a peer-reviewed journal or a conference report. Amendments of the basic protocol will be documented in the comprehensive review. PROSPERO REGISTRATION NUMBER: PROSPERO CRD 42019122008.


Assuntos
Anestésicos Inalatórios/efeitos adversos , Eletroencefalografia , Epilepsia/induzido quimicamente , Sevoflurano/efeitos adversos , Adolescente , Criança , Pré-Escolar , Humanos , Incidência , Lactente , Projetos de Pesquisa , Fatores de Risco
13.
Ideggyogy Sz ; 72(9-10): 304-314, 2019 Sep 30.
Artigo em Húngaro | MEDLINE | ID: mdl-31625697

RESUMO

Aims - Overview of the new data about the strong link of sleep and epilepsy and conjoining cognitive impairment. Methods - Search for relevant references and summary of our own research activity on the topic. Results - Strong interrealtionship exists between epilepsy and plastic brain functions (memory processing and synaptic homeostasis) and the working modes of NREM sleep. In the most frequent childhood and adult epilepsy networks responsible for plastic functions can be derailed to an epileptic level of excitability, and suffer a transitory or permanent epileptic transformation. Exampling on the three big epilepsies: absence epilepsy; medial temporal lobe epilepsy; and childhood idiopathic focal age dependent epilepsy spectrum we demonstrate the most important features of this epileptic transformation. The association of cognitive impairment to certain sleep dependent epilepsies gains explanation by the epilepsy caused interference with slow wave decline (ICFE) and memory consolidation (MTLE) during NREM sleep. This paper serves also to introduce the concept of sleep dependent system epilepsies. Conclusions - We provide evidences about shared mechanisms among sleep related epilepsies being the derailment of sleep plastic funcions toward exaggerated excitability determined by the inherent possibilities of the signal transduction properties.


Assuntos
Disfunção Cognitiva/fisiopatologia , Epilepsias Parciais/fisiopatologia , Epilepsia/fisiopatologia , Sono/fisiologia , Adulto , Criança , Eletroencefalografia , Humanos , Plásticos , Fases do Sono/fisiologia
14.
Medicina (B Aires) ; 79 Suppl 3: 20-24, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603838

RESUMO

Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.


Assuntos
Epilepsia/etiologia , Doenças Metabólicas/complicações , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/terapia , Humanos , Recém-Nascido , Convulsões/classificação , Convulsões/etiologia , Convulsões/terapia
15.
Medicina (B Aires) ; 79 Suppl 3: 37-41, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603842

RESUMO

Around 15% of childhood epilepsies are resistant to antiepileptic drugs, 40% of which are caused by malformations of cortical development (MCD). The current classification scheme for MCD is based on the primary developmental steps of cell proliferation, neuronal migration, and cortical organization. Considering the clinic and molecular alterations, a classification based on main pathways disruption and imaging phenotype has been proposed. MCD were divided into four groups: megalencephaly and focal cerebral dysplasia; tubulinopathies and lissencephalies; polymicrogyria syndromes and heterotopia syndromes. More than 100 genes have been reported to be associated with different types of MCD. Genetic and biological mechanisms include different stages of cell cycle regulation - especially cell division -, apoptosis, cell-fate specification, cytoskeletal structure and function, neuronal migration, and basement-membrane function. The associated epileptic syndromes are varied ranging from early-onset epileptic encephalopathies to focal epilepsies. As MCD are common causes of refractory epilepsy, a prompt diagnosis and the development of different therapeutic options in order to improve the outcome of the patients are essential.


Assuntos
Epilepsia/etiologia , Malformações do Desenvolvimento Cortical/complicações , Criança , Pré-Escolar , Eletroencefalografia , Humanos , Imagem por Ressonância Magnética , Masculino , Malformações do Desenvolvimento Cortical/classificação , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/genética
16.
Medicina (B Aires) ; 79 Suppl 3: 42-47, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31603843

RESUMO

Epileptic encephalopathies is a group of epileptic syndromes characterized by progressive cognitive impairment beyond the expected for the epilepsy activity. They are characterized by severe pharmaco-resistant epilepsy, severely abnormal electroencephalograms, early-age onset, neurocognitve impairment, variable phenotype and usually normal brain MRI. These syndromes are usually genetically determined. A correct and timely diagnosis could help and guide the medical counselling and the correct therapeutic approach improving the short, medium and long term outcomes. In this article we review the electroencephalographic and genetic findings along with the most recommended therapeutic options facilitating the clinical management. We include the following epileptic encephalopathy syndromes: Ohtahara, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West, Dravet, non-progressive myoclonic status, Doose, Lennox-Gastaut, Landau-Kleffner and continuous spike-wave during sleep epilepsy.


Assuntos
Encefalopatias/genética , Epilepsias Mioclônicas/genética , Espasmos Infantis , Anticonvulsivantes/classificação , Anticonvulsivantes/uso terapêutico , Encefalopatias/classificação , Encefalopatias/diagnóstico , Encefalopatias/tratamento farmacológico , Eletroencefalografia , Epilepsias Mioclônicas/diagnóstico , Epilepsias Mioclônicas/tratamento farmacológico , Humanos , Síndrome
18.
Isr Med Assoc J ; 21(7): 503, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31507131

RESUMO

BACKGROUND: Benign rolandic epilepsy or benign childhood epilepsy with centrotemporal spikes (BCECTS) is a common childhood epileptic syndrome. The syndrome resolves in adolescence, but 1-7% of patients have an atypical presentation, some of which require aggressive medical treatment. Early treatment may prevent complications and neurocognitive deterioration. Variants include Landau-Kleffner syndrome (LKS) and electrical status epilepticus during sleep (ESES). OBJECTIVES: To determine data driven identification of risk factors and characterization of new subtypes of BCECTS based on anontology. To use data mining analysis and correlation between the identified groups and known clinical variants. METHODS: We conducted a retrospective cohort study comprised of 104 patients with a diagnosis of BCECTS and a minimum of 2 years of follow-up, between the years 2005 and 2017. The medical records were obtained from the epilepsy service unit of the pediatric neurology department at Dana-Dwek Hospital, Tel Aviv Sourasky Medical Center. We developed a BCECTS ontology and performed data preprocessing and analysis using the R Project for Statistical Computing (https://www.r-project.org/) and machine learning tools to identify risk factors and characterize subgroups. RESULTS: The ontology created a uniform and understandable infrastructure for research. With the ontology, a more precise characterization of clinical symptoms and EEG activity of BCECTS was possible. Risk factors for the development of severe atypical presentations were identified: electroencephalography (EEG) with spike wave (P < 0.05), EEG without evidence of left lateralization (P < 0.05), and EEG localization (centrotemporal, frontal, or frontotemporal) (P < 0.01). CONCLUSIONS: Future use of the ontology infrastructure for expanding characterization for multicenter studies as well as future studies of the disease are needed. Identifying subgroups and adapting them to known clinical variants will enable identification of risk factors, improve prediction of disease progression, and facilitate adaptation of more accurate therapy. Early identification and frequent follow-up may have a significant impact on the prognosis of the atypical variants.


Assuntos
Algoritmos , Mineração de Dados , Eletroencefalografia/métodos , Epilepsia Rolândica/diagnóstico , Estudos de Coortes , Epilepsia Rolândica/fisiopatologia , Seguimentos , Humanos , Prognóstico , Estudos Retrospectivos , Fatores de Risco
19.
Ideggyogy Sz ; 72(7-8): 257-263, 2019 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-31517458

RESUMO

Background and purpose: Nonconvulsive status epilepticus (NCSE) is a heterogeneous, severe neurological disorder of different etiologies. In this study, the outcomes of NCSE episodes was assessed in a large series of adult patients. Our objective was to evaluate relationship between Status Epilepticus Severity Score (STESS) and etiology and the role of etiological factors on predicting the outcomes. Methods: In this retrospective study, the medical records of 95 patients over 18 years of age who were diagnosed with NCSE between June 2011 and December 2015 were reviewed. Their treatment and follow-up for NCSE was performed at the Epilepsy Unit in Department of Neurology, Antalya Research and Training Hospital. Etiological factors thought to be responsible for NCSE episodes as well as the prognostic data were retrieved. The etiological factors were classified into three groups as those with a known history of epilepsy (Group 1), primary neurological disorder (Group 2), or systemic/unknown etiology (Group 3). STESS was retrospectively applied to patients. Results: There were 95 participants, 59 of whom were female. Group 1, Group 2, and Group 3 consisted of 11 (7 female), 54 (33 female), and 30 (19 female) patients, respectively. Of the 18 total deaths, 12 occurred in Group 2, and 6 in Group 3. The negative predictive value for a STESS score of ≤ 2 was 93.88% (+LR 2.05 95% CI: 1.44-2.9 and -LR 0.3 95% CI 0.10-0.84 ) in the overall study group. While the corresponding values for Group 1 (patients with epilepsy), Group 2 (patients with primary neurological disorder), and group 3 (patients with systemic or unknown etiology) were 100%, 92.59% (+LR 2.06 95%CI: 1.32-3.21 and -LR 0.28 95% CI 0.08-1.02 ) 83.33% (+LR 1.14 95%CI: 0.59-2.9 and -LR 0.80 95% CI 0.23-2.73). Conclusion: This study included the one of the largest patients series ever reported in whom STESS, a clinical scoring system proposed for use in patients with status epilepticus, has been implemented. Although STESS appeared to be quite useful for predicting a favorable outcome in NCSE patients with epilepsy and primary neurological disorders, its predictive value in patients with systemic or unknown etiology was lower. Further prospective studies including larger NCSE samples are warranted.


Assuntos
Eletroencefalografia/estatística & dados numéricos , Estado Epiléptico/diagnóstico , Estado Epiléptico/etiologia , Adolescente , Adulto , Área Sob a Curva , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Feminino , Humanos , Avaliação de Resultados (Cuidados de Saúde) , Prognóstico , Curva ROC , Estudos Retrospectivos , Índice de Gravidade de Doença , Estado Epiléptico/epidemiologia
20.
Postgrad Med ; 131(7): 501-508, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31483196

RESUMO

Objectives: Aiginition Longitudinal Biomarker Investigation Of Neurodegeneration (ALBION) is a longitudinal ongoing study initiated in 2018 that takes place in the Cognitive Disorders Clinic of Aiginition Hospital of the National and Kapodistrian University of Athens. Its aim is to address several research questions concerning the preclinical and prodromal stage of Alzheimer's disease and explore potential markers for early detection, prediction, and primary prevention of dementia. Methods: We here present the design and the preliminary baseline characteristics of ALBION. The sample of our study consists of people aged over 50 who are concerned about their memory but are cognitively normal (CN) or have mild cognitive deficits. Each participant undergoes an extensive assessment including several demographic, medical, social, environmental, clinical, nutritional, neuropsychological determinants and lifestyle activities. Furthermore, we are collecting data from portable devices, neuroimaging techniques and biological samples (blood, stools, CSF). All participants are assessed annually for a period of 10 years. Results: In total, 47 participants have completed the initial evaluation up to date and are divided in two groups, CN individuals (N = 26) and MCI patients (N = 21), based on their cognitive status. The participants are, on average, 64 years old, 46.3% of the sample is male with an average of 12.73 years of education. MCI patients report more comorbidities and have a lower score in the MMSE test. Regarding APOE status, 2 participants are ε4 homozygotes and 10 ε4 heterozygotes. CSF analyses (Aß42, Τ-tau, P-tau) revealed no differences between the two groups. Conclusion: The ALBION study offers an opportunity to explore preclinical dementia and identify new and tailored markers, particularly relating to lifestyle. Further investigation of these populations may provide a wider profile of the changes taking place in the preclinical phase of dementia, leading to potentially effective therapeutic and preventive strategies.


Assuntos
Doença de Alzheimer/prevenção & controle , Disfunção Cognitiva/metabolismo , Prevenção Primária , Sintomas Prodrômicos , Idoso , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/metabolismo , Doença de Alzheimer/fisiopatologia , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Apolipoproteínas E/genética , Biomarcadores , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/fisiopatologia , Diagnóstico Precoce , Eletroencefalografia , Feminino , Neuroimagem Funcional , Grécia , Humanos , Estudos Longitudinais , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Fragmentos de Peptídeos/líquido cefalorraquidiano , Dados Preliminares , Proteínas tau/líquido cefalorraquidiano
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