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1.
Epilepsia Open ; 9(4): 1416-1425, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38795316

RESUMO

OBJECTIVES: Existing data regarding the risk of COVID-19 infection and its effects on seizure control in patients with epilepsy (PWE) are inconclusive. Our research aims to investigate the PWE who are susceptible to COVID-19 and what factors contribute to seizure exacerbation. METHODS: From Dec 28, 2022 to Feb 19, 2023, a cross-sectional questionnaire survey among adult PWE was conducted. The demographics, epilepsy-related information, COVID-19-related variables, and seizure outcomes after COVID-19 infection were collected. Multivariate logistic analyses were performed to determine the risk factors associated with COVID-19 infection and exacerbated seizures. RESULTS: Of 1557 PWE, 829 (53.2%) were infected with COVID-19 and 136 (16.4%) developed seizure exacerbation after COVID-19 infection. Overweight/obesity (OR 1.372, 95% CI 1.075-1.753, p = 0.011), immunocompromised (OR 3.301, 95% CI 1.093-9.974, p = 0.031), active epilepsy (OR 1.700, 95% CI 1.378-2.097, p < 0.001), and antiseizure medication (ASM) polytherapy (OR 1.314, 95% CI 1.065-1.621, p = 0.011) were associated with COVID-19 infection. Active epilepsy (OR 4.696, 95% CI 2.568-8.586, p < 0.001) and fever-associated seizures (OR 4.298, 95%CI 2.659-6.946, p < 0.001) were associated with seizure exacerbation. SIGNIFICANCE: PWE with overweight/obesity, immunocompromised, active epilepsy, and ASM polytherapy were at higher risk of COVID-19 infection. Once infected with COVID-19, seizures were exacerbated in PWE with active epilepsy and fever-associated seizures. PLAIN LANGUAGE SUMMARY: Patients with epilepsy (PWE) do not appear to be more susceptible to COVID-19 infection than general population. Once infected with COVID-19, 16.4% of PWE had seizure exacerbation. The PWE who have experienced seizures within the past 12 months before infection tend to contract COVID-19 more often, and are more likely to experience seizure exacerbations following COVID-19 infection.


Assuntos
COVID-19 , Epilepsia , Convulsões , Humanos , COVID-19/complicações , COVID-19/epidemiologia , Feminino , Masculino , Epilepsia/epidemiologia , Adulto , Estudos Transversais , Pessoa de Meia-Idade , Fatores de Risco , Convulsões/epidemiologia , Convulsões/etiologia , SARS-CoV-2 , Anticonvulsivantes/uso terapêutico , Inquéritos e Questionários
2.
J Neurol Sci ; 414: 116822, 2020 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-32278166

RESUMO

BACKGROUND: The detection of Nonvalvular atrial fibrillation (NVAF) in AIS patients may be elusive and require further investigation such as electrocardiography (ECG) and Holter monitoring. The objective of this study is to evaluate the N-terminal pro B-type natriuretic peptide (NT-proBNP) diagnostic value for NVAF and the clinical outcome of AIS patients. METHODS: We conducted a retrospective study of AIS patients in ten hospitals of the Shaanxi province. All NVAF patients and matched patients without NVAF admitted within 7 days after stroke onset were included in our study. The admission NT-proBNP receiver operating characteristic curve was drawn to determine the discriminative power of NT-proBNP in NVAF identification. Multivariate logistic regression analysis was used to examine the odds ratios (OR) of NT-proBNP for NVAF and identify the potential factors associated with the clinical outcomes in AIS patients. RESULTS: A total of 275 NVAF cases and 275-matched controls were included in the current study. NT-proBNP was independently associated with NVAF (OR = 64.047, 95% confidence interval [CI]: 30.298-135.390, p < .001) in AIS patients. The optimal cutoff point for the NT-proBNP level to distinguish the NVAF group from the non-NVAF group was 431.0 pg/ml, with an area under curve [AUC] of 0.910 (95% CI: 0.885-0.935, p < .001). The high NT-proBNP level (OR: 3.284, 95% CI: 1.830-5.896, p < .001) was an independent indicator that was positively related to hospitalization mortality. CONCLUSION: The rise of the serum NT-proBNP level at first admission added great contributions to the NVAF diagnosis after AIS, and was independently associated with the hospitalization mortality of AIS patients.


Assuntos
Fibrilação Atrial , Isquemia Encefálica , AVC Isquêmico , Peptídeo Natriurético Encefálico , Fragmentos de Peptídeos , Acidente Vascular Cerebral , Fibrilação Atrial/complicações , Fibrilação Atrial/diagnóstico , Biomarcadores , Isquemia Encefálica/complicações , Isquemia Encefálica/diagnóstico , Estudos de Casos e Controles , Humanos , Prognóstico , Estudos Retrospectivos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico
3.
Front Genet ; 11: 591434, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33391346

RESUMO

The clinical utility of genetic testing for epilepsy has been enhanced with the advancement of next-generation sequencing (NGS) technology along with the rapid updating of publicly available databases. The aim of this study was to evaluate the diagnostic yield of NGS and assess the value of reinterpreting genetic test results in children and adults with epilepsy. We performed genetic testing on 200 patients, including 82 children and 118 adults. The results were classified into three categories: positive, inconclusive, or negative. The reinterpretation of inconclusive results was conducted in April 2020. Overall, we identified disease-causing variants in 12% of the patients in the original analysis, and 14.5% at reinterpretation. The diagnostic yield for adults with epilepsy was similar to that for children (11 vs. 19.5%, p = 0.145). After reinterpretation, 9 of the 86 patients who initially had inconclusive results obtained a clinically significant change in diagnosis. Among these nine revised cases, five obtained positive diagnoses, representing a diagnosis rate of 5.8% (5/86). Manual searches for additional evidence of pathogenicity for candidate variants and updated patient clinical information were the main reasons for diagnostic reclassification. This study emphasizes the diagnostic potential of combining NGS and reinterpretation of inconclusive genetic test reports in children and adults with epilepsy.

4.
Seizure ; 69: 70-75, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30981052

RESUMO

PURPOSE: To investigate the long-term seizure outcome in patients with convulsive status epilepticus (CSE) due to acute encephalitis and identify early predictors for terminal seizure remission. METHODS: Based on a prospective registry of CSE, consecutive patients with CSE due to acute encephalitis were enrolled from July 2009 to November 2017, with follow-up ending in November 2018. Variables during hospital stay, seizure outcomes within 1 month after status epilepticus (SE), and seizure outcomes within 3 months after acute phase of encephalitis were assessed for predicting terminal seizure freedom. RESULTS: After a median 58-month observation period, 77 patients were included in this study. Twenty-eight (36%) patients died within 3 months, 22 (29%) patients had recurrent seizures after acute phase of encephalitis, and 27 (35%) patients attained terminal seizure freedom after acute phase of encephalitis. Patients with CSE due to autoimmune encephalitis had a higher rate of terminal seizure freedom than those with viral and other encephalitis. Among all living patients (n = 49), 26 (53%) patients were on anti-epileptic medication at the end of follow-up. STESS score on admission, seizure freedom throughout 1 month after SE, and seizure freedom throughout 3 months after acute phase were found to be independently associated with terminal seizure freedom. CONCLUSIONS: Our study proposed a dynamic assessment system to identify patients for whom long-term use of anti-epileptic drugs (AEDs) might not be necessary. Our findings filled a gap in treatment decision on how long AEDs should be continued for patients with CSE due to acute encephalitis.


Assuntos
Anticonvulsivantes/uso terapêutico , Encefalite/tratamento farmacológico , Convulsões/tratamento farmacológico , Estado Epiléptico/tratamento farmacológico , Doença Aguda , Adulto , Encefalite/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Convulsões/etiologia , Estado Epiléptico/etiologia , Tempo , Resultado do Tratamento
5.
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi ; 29(8): 842-5, 2013 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-23948411

RESUMO

OBJECTIVE: To investigate c-Cbl and Cbl-b gene expressions in peripheral blood mononuclear cells (PBMCs) from multiple myeloma (MM) patients. METHODS: SYBR(R); Green PCR technique was used to detect c-Cbl and Cbl-b gene expressions in PBMCs from 23 MM patients and 22 healthy individuals, and RT-PCR and DNA sequence analysis were performed to analyze the mutations of 7-10 exons of c-Cbl. RESULTS: The expression of c-Cbl gene in MM patients (median: 0.798%) significantly decreased as compared with that in healthy controls (median: 2.443%) (P<0.05). The expression of Cbl-b gene in MM patients (median: 0.714%) also dropped significantly as compared with that in healthy controls (median: 2.179%) (P<0.05). The 7-10 exons of c-Cbl gene had two different sizes of fragments in 2 MM patients: 483 bp and 148 bp which were wild-type and deletion mutants type of c-Cbl gene. c-Cbl gene mutations were not found in all MM patients. CONCLUSION: The expressions of c-Cbl and Cbl-b genes in PBMCs from MM patients are down-regulated.


Assuntos
Leucócitos Mononucleares/fisiologia , Mieloma Múltiplo/sangue , Mieloma Múltiplo/genética , Proteínas Proto-Oncogênicas c-cbl/biossíntese , Proteínas Proto-Oncogênicas c-cbl/genética , Adulto , Idoso , Sequência de Bases , Regulação para Baixo , Feminino , Humanos , Leucócitos Mononucleares/metabolismo , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Proteínas Proto-Oncogênicas c-cbl/sangue , Adulto Jovem
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