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1.
J Clin Neurophysiol ; 41(3): 221-229, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38436389

RESUMO

PURPOSE: There is a lack of clinical and epidemiological knowledge about nonconvulsive status epilepticus (NCSE) in developing countries including Mexico, which has the highest prevalence of epilepsy in the Americas. Our aim was to describe the clinical findings, EEG features, and outcomes of NCSE in a tertiary center in Mexico. METHODS: We conducted a retrospective case series study (2010-2020) including patients (≥15 years old) with NCSE according to the modified Salzburg NCSE criteria 2015 with at least 6 months of follow-up. We extracted the clinical data (age, sex, history of epilepsy, antiseizure medications, clinical manifestations, triggers, and etiology), EEG patterns of NCSE, and outcome. Descriptive statistics and multinomial logistic regression were used. RESULTS: One hundred thirty-four patients were analyzed; 74 (54.8%) women, the total mean age was 39.5 (15-85) years, and 71% had a history of epilepsy. Altered state of consciousness was found in 82% (including 27.7% in coma). A generalized NCSE pattern was the most common (32.1%). The NCSE etiology was mainly idiopathic (56%), and previous uncontrolled epilepsy was the trigger in 48% of patients. The clinical outcome was remission with clinical improvement in 54.5%. Multinomial logistic regression showed that the patient's age (P = 0.04), absence of comorbidities (P = 0.04), history of perinatal hypoxia (P = 0.04), absence of clinical manifestations (P = 0.01), and coma (P = 0.03) were negatively correlated with the outcome and only the absence of generalized slowing in the EEG (P = 0.001) had a significant positive effect on the prognosis. CONCLUSIONS: Age, history of perinatal hypoxia, coma, and focal ictal EEG pattern influence negatively the prognosis of NCSE.


Assuntos
Epilepsia , Estado Epiléptico , Gravidez , Humanos , Feminino , Adulto , Adolescente , Masculino , México/epidemiologia , Coma , Países em Desenvolvimento , Estudos Retrospectivos , Estado Epiléptico/diagnóstico , Estado Epiléptico/epidemiologia , Estado Epiléptico/terapia , Prognóstico , Hipóxia , Eletroencefalografia
2.
BMC Pediatr ; 24(1): 160, 2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38454370

RESUMO

BACKGROUND: Developmental and epileptic encephalopathy-50 (DEE-50) is a rare clinical condition believed to be caused by a mutation in the CAD gene and is associated with a bleak prognosis. CAD-related diseases have a wide range of clinical manifestations and other symptoms that may be easily overlooked. Like other rare diseases, the clinical manifestations and the treatment of DEE-50 necessitate further investigation. CASE PRESENTATION: A 1-year-old male patient presented with developmental delay, seizures, and anaemia at 3 months of age. He further developed refractory status epilepticus (SE), rapid deterioration of cognitive and motor function, and even became comatose at 5 months of age. Whole-exome sequencing of trios (WES-trios) revealed a compound heterozygous variant in the CAD gene, with one locus inherited from his father (c.1252C>T: p.Q418* nonsense mutation) and one from his mother (c.6628G>A: p.G2210S, missense mutation). This compound heterozygous CAD variant was unreported in the Human Gene Mutation Database. After uridine treatment, his cognitive faculties dramatically improved and he remained seizure-free. Forty two cases with CAD gene mutation reported in the literatures were reviewed. Among them, 90% had onset before 3 years of age, with average of 1.6±1.8 years old. The average age of diagnosis was 7.7 ± 10 years. The mortality rate was approximately 9.5%, with all reported deaths occurring in patients without uridine treatment. The clinical entity could be improved dramatically when the patient treated with uridine. CONCLUSIONS: We present a boy with DEE 50 caused by novel CAD gene mutations and reviewed the clinical features of 42 patients reported previously. DEE 50 has early onset, refractory seizures, even status epilepticus leading to death, with favorable response to treatment with oral uridine. Early uridine treatment is recommended if CAD defect is suspected or genetically diagnosed. This study enhances the knowledge of DEE 50 and expands the spectrum of CAD gene mutations.


Assuntos
Encefalopatias , Estado Epiléptico , Humanos , Lactente , Masculino , Mutação , Convulsões , Uridina/uso terapêutico
3.
Clin Neuropharmacol ; 47(2): 37-43, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38478363

RESUMO

OBJECTIVE: Refractory status epilepticus (RSE) treated with anesthetic agents can be associated with complications including respiratory depression and hypotension. Ketamine is an emerging RSE treatment, but optimal dosing and timing are unknown. We studied provider attitudes and practices regarding the use of ketamine for RSE. METHODS: A literature review informed the creation of the survey, developed by professionals in epilepsy, pharmacy, and neurocritical care. The survey was distributed to members of the Critical Care EEG Monitoring and Research Consortium, Neurocritical Care Society, American Academy of Neurology Synapse community, American Epilepsy Society, and the Canadian League Against Epilepsy. Descriptive statistics were calculated. RESULTS: There were 109 respondents. First-line agents for RSE were midazolam (53%), propofol (42%), pentobarbital (2%), and ketamine (1%). Reasons for ketamine use included failure of midazolam/propofol to control seizures (81%) or hypotension on another anesthetic (35%). Perceived contraindications included hypertension (37%), elevated intracranial pressure (24%), and heart failure (18%). Perceived benefits included decreased use of vasopressors (53%) and more rapid RSE control when used adjunctively (49%). Routine ketamine users often treated more than 10 RSE cases per year, worked as intensivists or at academic institutions. Of the respondents, 59% found ketamine useful for RSE and 94% were interested in learning more about its use. CONCLUSIONS: Although most participants found ketamine helpful for RSE, it is mainly used as a second-line agent adjunctively with midazolam or propofol. Perceived ketamine benefits included decreased need for hemodynamic support and more rapid seizure control when used in conjunction with other anesthetics. Perceived contraindications centered on cardiac and intracranial pressure concerns.


Assuntos
Epilepsia , Hipotensão , Ketamina , Propofol , Estado Epiléptico , Humanos , Midazolam/uso terapêutico , Ketamina/uso terapêutico , Propofol/uso terapêutico , Anticonvulsivantes/uso terapêutico , Canadá , Estado Epiléptico/tratamento farmacológico , Convulsões , Hipotensão/tratamento farmacológico , Epilepsia/tratamento farmacológico
5.
Curr Opin Crit Care ; 30(2): 131-141, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38441162

RESUMO

PURPOSE OF REVIEW: Status epilepticus (SE) is a common neurologic emergency affecting about 36.1/100 000 person-years that frequently requires intensive care unit (ICU) admission. There have been advances in our understanding of epidemiology, pathophysiology, and EEG monitoring of SE, and there have been large-scale treatment trials, discussed in this review. RECENT FINDINGS: Recent changes in the definitions of SE have helped guide management protocols and we have much better predictors of outcome. Observational studies have confirmed the efficacy of benzodiazepines and large treatment trials indicate that all routinely used second line treatments (i.e., levetiracetam, valproate and fosphenytoin) are equally effective. Better understanding of the pathophysiology has indicated that nonanti-seizure medications aimed at underlying pathological processes should perhaps be considered in the treatment of SE; already immunosuppressant treatments are being more widely used in particular for new onset refractory status epilepticus (NORSE) and Febrile infection-related epilepsy syndrome (FIRES) that sometimes revealed autoimmune or paraneoplastic encephalitis. Growing evidence for ICU EEG monitoring and major advances in automated analysis of the EEG could help intensivist to assess the control of electrographic seizures. SUMMARY: Research into the morbi-mortality of SE has highlighted the potential devastating effects of this condition, emphasizing the need for rapid and aggressive treatment, with particular attention to cardiorespiratory and neurological complications. Although we now have a good evidence-base for the initial status epilepticus management, the best treatments for the later stages are still unclear and clinical trials of potentially disease-modifying therapies are long overdue.


Assuntos
Encefalite , Estado Epiléptico , Humanos , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamento farmacológico , Convulsões/tratamento farmacológico , Ácido Valproico/uso terapêutico , Levetiracetam/uso terapêutico , Benzodiazepinas/uso terapêutico , Anticonvulsivantes/uso terapêutico
6.
Tidsskr Nor Laegeforen ; 144(4)2024 Mar 19.
Artigo em Inglês, Norueguês | MEDLINE | ID: mdl-38506004

RESUMO

This clinical review examines the treatment of status epilepticus, a condition in which epileptic seizures are prolonged and pose a significant risk of brain damage and death. International guidelines recommend the use of benzodiazepines as first-line treatment, and these should be administered promptly and in appropriate doses. Second-line treatment involves the use of high-dose anti-seizure medications to stop and prevent seizures. If seizure activity persists, general anaesthesia should be administered as soon as possible. All neurological hospital departments should have established and rehearsed protocols for treating status epilepticus.


Assuntos
Epilepsia , Estado Epiléptico , Adulto , Humanos , Anticonvulsivantes/uso terapêutico , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/prevenção & controle , Epilepsia/tratamento farmacológico , Benzodiazepinas/uso terapêutico
7.
Air Med J ; 43(2): 84-89, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38490790

RESUMO

Current first-line therapies for seizure management recommend benzodiazepines, which target gamma-aminobutyric acid type A channels to stop the seizure activity. However, seizures may be refractory to traditional first-line therapies, transitioning into status epilepticus and becoming resistant to gamma-aminobutyric acid type A augmenting drugs. Although there are other antiseizure medications available for clinicians to use in the intensive care unit, these options can be less readily available outside of the intensive care unit and entirely absent in the prehospital setting. Instead, patients frequently receive multiple doses of first-line agents with increased risk of hemodynamic or airway collapse. Ketamine is readily available in the prehospital setting and emergency department, has well-established antiseizure effects with a favorable safety profile, and is a drug often used for several other indications. This article aimed to explore the utilization of ketamine for seizure management in the prehospital setting, reviewing seizure pathophysiology, established treatment mechanisms of action and pharmacokinetics, and potential benefits of early ketamine use in status epilepticus.


Assuntos
Ketamina , Estado Epiléptico , Humanos , Ketamina/uso terapêutico , Anticonvulsivantes/uso terapêutico , Estado Epiléptico/tratamento farmacológico , Convulsões/tratamento farmacológico , Serviço Hospitalar de Emergência , Ácido gama-Aminobutírico/uso terapêutico
8.
Malar J ; 23(1): 84, 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38500090

RESUMO

BACKGROUND: Malaria is an infectious malady caused by Plasmodium parasites, cerebral malaria standing out as one of its most severe complications. Clinical manifestation include elevated body temperature, loss of consciousness, and seizures. However, reports of cerebral malaria presenting as nonconvulsive status epilepticus are extremely rare. The case presented involves psychiatric symptoms, with the electroencephalogram indicated nonconvulsive status epilepticus associated with cerebral malaria. CASE PRESENTATION: A 53-year-old male, was urgently admitted, due to confusion and abnormal behaviour for 10 h. The patient returned to China after developing a fever while working in Tanzania two months ago. The blood smear revealed Plasmodium vivax and Plasmodium falciparum, and he was diagnosed with malaria. He recovered following anti-malarial treatment. After admission, the patient was confused, unable to communicate normally, and unwilling to cooperate with the physical examination. Plasmodium was not found in the blood smear, but the DNA sequence of P. falciparum was discovered using metagenomic next-generation sequencing of cerebrospinal fluid. Brain MRI revealed no significant abnormalities. Continuous electroencephalogram monitoring revealed that the patient had non-convulsive status epilepticus, which was treated with diazepam and levetiracetam. The patient had normal consciousness and behaviour. He received anti-malarial treatment for two weeks and fully recovered. CONCLUSIONS: This case demonstrates that nonconvulsive status epilepticus can be a manifestation of cerebral malaria. It is imperative for attending physicians to heighten vigilance when encountering patients with a history of travel to malaria-endemic regions or a prior malaria infection, especially in the presence of unusual clinical presentations.


Assuntos
Antimaláricos , Malária Cerebral , Malária Falciparum , Plasmodium , Estado Epiléptico , Masculino , Humanos , Pessoa de Meia-Idade , Malária Cerebral/complicações , Malária Cerebral/diagnóstico , Malária Cerebral/tratamento farmacológico , Antimaláricos/uso terapêutico , Malária Falciparum/complicações , Malária Falciparum/diagnóstico , Malária Falciparum/tratamento farmacológico , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/etiologia
9.
Am J Case Rep ; 25: e942459, 2024 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-38491726

RESUMO

BACKGROUND Acute necrotizing encephalopathy of childhood (ANEC) is a rare form of acute encephalopathy in children that is characterized by rapid and progressive deterioration in the patient's clinical condition. Our aim in reporting the case is to highlight the importance of early diagnoses and aggressive early management of ANEC to achieve a better outcome. We report the case of a 5-year-old girl who presented with acute progressive encephalopathy with bilateral symmetrical thalamic involvement and brainstem lesion proceeded by a flu-like illness. CASE REPORT We report a 5-year-old girl who was previously healthy. She presented with rapid progressive encephalopathy and status epilepticus following a flu-like illness. Her magnetic resonance imaging (MRI) showed significance symmetrical bilateral thalamic enhancement with brainstem lesions, which is consistent with the diagnosis of ANEC of childhood, and her initial electroencephalogram (EEG) showed severe encephalopathy. Despite extensive management of ANEC, the patient showed a poor prognosis. CONCLUSIONS ANEC is a rare, specific, devastating condition in the pediatric population. Early diagnosis and aggressive management should be initiated immediately to avoid the high mortality associated with the condition. Furthermore, to highlight the importance of the clear history of the patient who presented with rapid and progressive deterioration in the level of consciousness and status epilepticus proceeded by viral illness, a rapid neuroradiological images such as brain MRI should be obtained to confirm the diagnosis of this rare condition. We also seek to increase awareness of this disorder among healthcare workers and general practitioners.


Assuntos
Encefalopatias , Encefalite , Estado Epiléptico , Feminino , Humanos , Criança , Pré-Escolar , Encefalopatias/diagnóstico por imagem , Encefalopatias/etiologia , Encéfalo/patologia , Imageamento por Ressonância Magnética , Estado Epiléptico/etiologia , Doença Aguda
10.
J Med Case Rep ; 18(1): 121, 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38504350

RESUMO

BACKGROUND: Pediatric coronavirus disease 2019 infection usually presents with respiratory and gastrointestinal symptoms. In this report we present fulminant meningitis as the main presentation of coronavirus disease 2019 without major signs and symptoms of other organs' involvement in 3 infants. CASES: The first case was a 4 months Iranian male infant with fulminant meningitis as the main presentation of coronavirus disease 2019 without other organ involvement. He was treated as suspected bacterial meningitis but CSF PCR and CSF culture were negative for common meningeal pathogens. On 3rd day, his coronavirus disease 2019 PCR test became positive, while it was negative on 1st day. The second case was a 13 months Iranian male infant with fever, irritability, and photophobia for 24 h before poorly controlled status epilepticus. CSF coronavirus disease 2019 PCR became positive while CSF PCR and CSF culture were negative for other common meningeal pathogens. Seizures were controlled with multiple anti-seizure medications. The third case was a 14 months Iranian female infant with fever and seizure1 hour before admission, leading to poorly controlled status epilepticus despite anti-epileptic therapy 10 h after admission. CSF coronavirus disease 2019 PCR became positive while CSF PCR and CSF culture were negative for other common meningeal pathogens. He was controlled with multiple anti-seizure medications. CONCLUSION: Meningitis of coronavirus disease 2019 should be considered in severely ill pediatric cases with poorly controlled seizures and RBC in CSF smear. Also, pediatricians can consider corticosteroids, remdesivir, and IVIG therapy in these cases.


Assuntos
COVID-19 , Meningites Bacterianas , Estado Epiléptico , Lactente , Humanos , Masculino , Criança , Feminino , Irã (Geográfico) , Meningites Bacterianas/diagnóstico , Meningites Bacterianas/tratamento farmacológico , Meningites Bacterianas/microbiologia , Anticorpos , Febre/etiologia
12.
Eur J Med Res ; 29(1): 168, 2024 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-38475859

RESUMO

OBJECTIVE: To analyze the risk factors affecting psychiatric behavior and study the psychobehavioral conditions of children with epilepsy. METHOD: We randomly selected and enrolled 294 children with epilepsy who visited and were hospitalized in the pediatric clinic of Hebei General Hospital between January 2017 and January 2022, as the study participants. We comprehensively assessed their cognitive functions using the Gesell development schedule or Wechsler Intelligence Scales. The participants were divided into the study group (n = 123) with cognitive impairment and the control group (n = 171) with normal cognitive functions, for analysis. RESULTS: There were statistically significant differences between the two groups in disease course, frequency of epilepsy, status epilepticus, and the number of antiseizure medications (ASMs) used (P < 0.05), while there were no statistically significant differences in age, gender, age of onset, form of onset, interictal epileptiform discharge, history of febrile convulsion, and the time from onset to initial visit (P > 0.05). Based on multivariate logistic regression analysis, the course of disease, frequency of onset, status epilepticus and number of ASMs used were identified as high-risk factors for cognitive impairment in children with epilepsy. Similarly, early onset, long course of disease, known etiology, and combination of multiple drugs have a negative impact on behavioral problems, school education, and social adaptability. CONCLUSION: The course of disease, the frequency of onset, status epilepticus, and the number of ASMs used are high-risk factors for cognitive impairment in children with epilepsy, which can be prevented and controlled early. When selecting ASMs, their advantages and disadvantages should be weighed. Moreover, the availability of alternative treatment options must be considered. With the help of genomic technology, the causes of epilepsy should be identified as early as possible, and precision medicine and gene therapy for children with epilepsy should be actively developed.


Assuntos
Transtornos Cognitivos , Epilepsia , Estado Epiléptico , Criança , Humanos , Cognição , Transtornos Cognitivos/epidemiologia , Comorbidade , Epilepsia/tratamento farmacológico , Epilepsia/epidemiologia , Epilepsia/psicologia , Estado Epiléptico/complicações , Masculino , Feminino
13.
Crit Care ; 28(1): 72, 2024 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-38475798

RESUMO

BACKGROUND: New onset refractory status epilepticus (NORSE) is a neurologic emergency without an immediately identifiable cause. The complicated and long ICU stay of the patients can lead to perceiving a prolongation of therapies as futile. However, a recovery is possible even in severe cases. This retrospective study investigates ICU treatments, short- and long-term outcome and ethical decisions of a case series of patients with NORSE. METHODS: Overall, 283 adults were admitted with status epilepticus (SE) to the Neurocritical Care Unit of the University Hospital Zurich, Switzerland, between 01.2010 and 12.2022. Of them, 25 had a NORSE. We collected demographic, clinical, therapeutic and outcome data. Descriptive statistics was performed. RESULTS: Most patients were female (68%), previously healthy (Charlson comorbidity index 1 [0-4]) and relatively young (54 ± 17 years). 96% presented with super-refractory SE. Despite extensive workup, the majority (68%) of cases remained cryptogenic. Most patients had a long and complicated ICU stay. The in-hospital mortality was 36% (n = 9). The mortality at last available follow-up was 56% (n = 14) on average 30 months after ICU admission. The cause of in-hospital death for 89% (n = 8) of the patients was the withholding/withdrawing of therapies. Medical staff except for one patient triggered the decision. The end of life (EOL) decision was taken 29 [12-51] days after the ICU admission. Death occurred on day 6 [1-8.5] after the decision was taken. The functional outcome improved over time for 13/16 (81%) hospital survivors (median mRS at hospital discharge 4 [3.75-5] vs. median mRS at last available follow-up 2 [1.75-3], p < 0.001). CONCLUSIONS: Our data suggest that the long-term outcome can still be favorable in NORSE survivors, despite a prolonged and complicated ICU stay. Clinicians should be careful in taking EOL decisions to avoid the risk of a self-fulfilling prophecy. Our results encourage clinicians to continue treatment even in initially refractory cases.


Assuntos
Estado Epiléptico , Humanos , Feminino , Masculino , Estudos Retrospectivos , Mortalidade Hospitalar , Estado Epiléptico/tratamento farmacológico , Hospitalização , Doença Aguda
14.
Sci Rep ; 14(1): 5063, 2024 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-38424459

RESUMO

The ketogenic diet (KD) has been shown to be effective in refractory epilepsy after long-term administration. However, its interference with short-term brain metabolism and its involvement in the early process leading to epilepsy remain poorly understood. This study aimed to assess the effect of a short-term ketogenic diet on cerebral glucose metabolic changes, before and after status epilepticus (SE) in rats, by using [18F]-FDG PET. Thirty-nine rats were subjected to a one-week KD (KD-rats, n = 24) or to a standard diet (SD-rats, n = 15) before the induction of a status epilepticus (SE) by lithium-pilocarpine administrations. Brain [18F]-FDG PET scans were performed before and 4 h after this induction. Morphological MRIs were acquired and used to spatially normalize the PET images which were then analyzed voxel-wisely using a statistical parametric-based method. Twenty-six rats were analyzed (KD-rats, n = 15; SD-rats, n = 11). The 7 days of the KD were associated with significant increases in the plasma ß-hydroxybutyrate level, but with an unchanged glycemia. The PET images, recorded after the KD and before SE induction, showed an increased metabolism within sites involved in the appetitive behaviors: hypothalamic areas and periaqueductal gray, whereas no area of decreased metabolism was observed. At the 4th hour following the SE induction, large metabolism increases were observed in the KD- and SD-rats in areas known to be involved in the epileptogenesis process late-i.e., the hippocampus, parahippocampic, thalamic and hypothalamic areas, the periaqueductal gray, and the limbic structures (and in the motor cortex for the KD-rats only). However, no statistically significant difference was observed when comparing SD and KD groups at the 4th hour following the SE induction. A one-week ketogenic diet does not prevent the status epilepticus (SE) and associated metabolic brain abnormalities in the lithium-pilocarpine rat model. Further explorations are needed to determine whether a significant prevention could be achieved by more prolonged ketogenic diets and by testing this diet in less severe experimental models, and moreover, to analyze the diet effects on the later and chronic stages leading to epileptogenesis.


Assuntos
Dieta Cetogênica , Estado Epiléptico , Ratos , Animais , Pilocarpina/farmacologia , Lítio/farmacologia , Ratos Wistar , Fluordesoxiglucose F18/farmacologia , Estado Epiléptico/induzido quimicamente , Estado Epiléptico/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Hipocampo , Modelos Animais de Doenças
15.
Clin Neurol Neurosurg ; 237: 108159, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38354426

RESUMO

PURPOSE: To identify patients with adult-onset temporal lobe epilepsy (TLE) at risk of developing cognitive decline. Detecting which patients, aetiologies, or factors are most closely related with memory decline would allow us to identify patients that would eventually benefit from more specific treatment. METHODS: Single centre, retrospective analysis of a prospectively followed-up cohort study, including all patients with the diagnosis of adult-onset TLE during 2013, with a minimum follow-up of five years. Memory and cognitive decline were analysed at 5 years and at last follow-up. RESULTS: Of 89 initially selected patients, 71 were included. After 5 years, 11/71 (15.5%) patients suffered cognitive decline, of which 1/71 (4%) developed dementia. At last follow-up (range 65-596 m) a total of 34/71 (47.8%) patients were diagnosed with cognitive decline, specifically either memory decline or dementia. Cognitive decline at 5 years was related to: 1. Age at onset: 62.65 years (SD 9.04) in the group with cognitive decline vs 50.33 y. (SD 13.02 in the group without cognitive decline; p=0.004); 2. Onset as status epilepticus (3/6 in patients with memory decline vs 8/65 in patients without cognitive decline; p=0.04); 3. Immune aetiology: 42% compared with unknown (10%) and structural (10%) aetiologies; p=0.036; 4. Hippocampal sclerosis on MRI: 5/11 patients with cognitive decline vs 9/51 patients without cognitive decline; p=0.035. Cognitive decline was not related to seizure frequency, sex, or age (p=0.78; p=0.40; p=0.95, respectively). CONCLUSIONS: Older age at epilepsy onset, onset as status epilepticus, immune aetiology, and hippocampal sclerosis are risk factors for developing cognitive decline in patients with adult-onset temporal lobe epilepsy.


Assuntos
Disfunção Cognitiva , Demência , Epilepsia do Lobo Temporal , Esclerose Hipocampal , Estado Epiléptico , Adulto , Humanos , Pessoa de Meia-Idade , Epilepsia do Lobo Temporal/epidemiologia , Epilepsia do Lobo Temporal/etiologia , Estudos de Coortes , Estudos Retrospectivos , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/etiologia , Transtornos da Memória
16.
BMC Pediatr ; 24(1): 96, 2024 Feb 03.
Artigo em Inglês | MEDLINE | ID: mdl-38310242

RESUMO

BACKGROUND: NARS2 as a member of aminoacyl-tRNA synthetases was necessary to covalently join a specific tRNA to its cognate amino acid. Biallelic variants in NARS2 were reported with disorders such as Leigh syndrome, deafness, epilepsy, and severe myopathy. CASE PRESENTATION: Detailed clinical phenotypes were collected and the NARS2 variants were discovered by whole exome sequencing and verified by Sanger sequencing. Additionally, 3D protein structure visualization was performed by UCSF Chimera. The proband in our study had early-onset status epilepticus with abnormal EEG and MRI results. She also performed global developmental delay (GDD) and myocardial dysfunction. Next-generation sequencing (NGS) and Sanger sequencing revealed compound heterozygous missense variants [NM_024678.6:exon14: c.1352G > A(p.Arg451His); c.707T > C(p.Phe236Ser)] of the NARS2 gene. The proband develops refractory epilepsy with GDD and hyperlactatemia. Unfortunately, she finally died for status seizures two months later. CONCLUSION: We discovered two novel missense variants of NARS2 in a patient with early-onset status epilepticus and myocardial dysfunction. The NGS enables the patient to be clearly diagnosed as combined oxidative phosphorylation deficiency 24 (COXPD24, OMIM:616,239), and our findings expands the spectrum of gene variants in COXPD24.


Assuntos
Aspartato-tRNA Ligase , Epilepsia Resistente a Medicamentos , Epilepsia , Estado Epiléptico , Feminino , Humanos , Estado Epiléptico/diagnóstico , Estado Epiléptico/genética , Epilepsia Resistente a Medicamentos/genética , Mutação de Sentido Incorreto , RNA de Transferência , Mutação , Aspartato-tRNA Ligase/genética
17.
Mol Biol Rep ; 51(1): 292, 2024 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-38332381

RESUMO

BACKGROUND: Neuroinflammation contributes to both epileptogenesis and the associated neurodegeneration, so regulation of inflammatory signaling is a potential strategy for suppressing epilepsy development and pathological progression. Exosomes are enriched in microRNAs (miRNAs), considered as vital communication tools between cells, which have been proven as potential therapeutic method for neurological disease. Here, we investigated the role of miR129-5p-loaded mesenchymal stem cell (MSC)-derived exosomes in status epilepticus (SE) mice model. METHODS: Mice were divided into four groups: untreated control (CON group), kainic acid (KA)-induced SE groups (KA group), control exosome injection (KA + Exo-con group), miR129-5p-loaded exosome injection (KA + Exo-miR129-5p group). Hippocampal expression levels of miR129-5p, HMGB1, and TLR4 were compared among groups. Nissl and Fluoro-jade B staining were conducted to evaluate neuronal damage. In addition, immunofluorescence staining for IBA-1 and GFAP was performed to assess glial cell activation, and inflammatory factor content was determined by ELISA. Hippocampal neurogenesis was assessed by BrdU staining. RESULTS: The expression of HMGB1 was increased after KA-induced SE and peaking at 48 h, while hippocampal miR129-5p expression decreased in SE mice. Exo-miR129-5p injection reversed KA-induced upregulation of hippocampal HMGB1 and TLR4, alleviated neuronal damage in the hippocampal CA3, reduced IBA-1 + and GFAP + staining intensity, suppressed SE-associated increases in inflammatory factors, and decreased BrdU + cell number in dentate gyrus. CONCLUSIONS: Exosomes loaded with miR129-5p can protect neurons against SE-mediated degeneration by inhibiting the pro-inflammatory HMGB1/TLR4 signaling axis.


Assuntos
Exossomos , Proteína HMGB1 , MicroRNAs , Estado Epiléptico , Animais , Camundongos , Bromodesoxiuridina/efeitos adversos , Bromodesoxiuridina/metabolismo , Exossomos/metabolismo , Hipocampo/metabolismo , Proteína HMGB1/genética , Proteína HMGB1/metabolismo , Ácido Caínico/efeitos adversos , Ácido Caínico/metabolismo , MicroRNAs/genética , MicroRNAs/metabolismo , Doenças Neuroinflamatórias , Convulsões/genética , Estado Epiléptico/induzido quimicamente , Estado Epiléptico/genética , Estado Epiléptico/metabolismo , Receptor 4 Toll-Like/genética , Receptor 4 Toll-Like/metabolismo
18.
Acad Emerg Med ; 31(3): 249-255, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38385563

RESUMO

INTRODUCTION: Toxin-induced seizures differ from seizures occurring in epilepsy and have a high rate of complications. Electroencephalography (EEG) is routinely obtained when there is concern for nonconvulsive status epilepticus (NCSE). The purpose of this study was to characterize the typical findings after toxin-induced seizures, assess the rate of epileptiform discharges and NCSE, and identify any changes in management resulting from EEG. METHODS: Patients older than 16 years who had an EEG during hospitalization for drug-induced seizure or seizure-like activity were included. We reviewed 10 years of data (2013-2022) across our hospital system (four community hospitals and one academic center). Patients with a history of seizures and those with cardiac arrest prior to EEG were excluded. The primary outcome was incidence of epileptiform discharges on EEG. The secondary outcome was number of antiseizure medications (ASM) added after EEG. RESULTS: A total of 256 encounters were screened with 83 patient encounters included. A total of 53% (44/83) of EEGs showed some degree of generalized slowing. A total of 2.4% (2/83) of cases had epileptiform activity on EEG. No cases of nonconvulsive status were identified. No ASM was started in the two cases where epileptiform discharges were identified. CONCLUSIONS: During usual care of toxin-induced seizures, epileptiform discharges are uncommon.


Assuntos
Convulsões , Estado Epiléptico , Humanos , Convulsões/tratamento farmacológico , Eletroencefalografia/métodos , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/epidemiologia , Incidência , Estudos Retrospectivos
19.
Medicine (Baltimore) ; 103(8): e36834, 2024 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-38394513

RESUMO

RATIONALE: Rhabdomyolysis is a serious complication of status epilepticus (SE) caused by muscle cell damage and can lead to a life-threatening acute kidney injury (AKI). PATIENT CONCERNS: A 35-year-old man with a history of seizures treated with 3 different antiepileptic drugs (carbamazepine, lamotrigine, and levetiracetam) presented with SE. The patient received 5 doses of diazepam to control the SE in another hospital and was transferred to our emergency due to AKI. DIAGNOSES: Laboratory tests corresponded with rhabdomyolysis-induced AKI and disseminated intravascular coagulation. Thereafter, the decrease in renal excretion of both drugs (diazepam and carbamazepine) caused acute liver injury and neurotoxicity. The carbamazepine concentration was 16.39 mcg/mL, which considered in toxic level, despite using the usual dose. INTERVENTIONS: The patient was treated with hydration and sodium bicarbonate, however; severe AKI mandated a hemodialysis session. OUTCOMES: The diuresis started to increase, kidney and liver functions improved, and altered mental status reversed. LESSONS: This case alerts physicians to consider the synergistic drug side effects and interactions, especially when patients present with impaired liver or kidney functions. The reduction in metabolism or excretion of drugs can cause an increase in serum concentrations and induce toxicity, even when the drug intake at the usual dose.


Assuntos
Injúria Renal Aguda , Doença Hepática Induzida por Substâncias e Drogas , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Rabdomiólise , Estado Epiléptico , Masculino , Humanos , Adulto , Diazepam/uso terapêutico , Anticonvulsivantes/efeitos adversos , Estado Epiléptico/induzido quimicamente , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/complicações , Carbamazepina/uso terapêutico , Rabdomiólise/complicações , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/complicações , Injúria Renal Aguda/etiologia , Doença Hepática Induzida por Substâncias e Drogas/complicações
20.
Expert Rev Neurother ; 24(4): 383-389, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38415629

RESUMO

INTRODUCTION: Lennox Gastaut syndrome (LGS) as an electroclinical diagnosis has been utilized as a clinical entity for more than 70 years. However, with the recognition of other distinct electroclinical epilepsy syndromes, no consistent single etiology, and the variability of criteria used in clinical trials, the clinical utility of such a diagnosis has been questioned. Recently, the International League Against Epilepsy for the first time defined diagnostic criteria for epilepsy syndromes, thereby allowing consistent language and inclusion criteria to be utilized. AREAS COVERED: Recent diagnostic criteria for syndrome diagnosis are explored as defined by the International League Against Epilepsy, with further literature reviewed to highlight relevant features, and differential diagnosis explored. EXPERT OPINION: Developmental and Epileptic Encephalopathy (DEE) is an overall term that may be descriptive of many different epilepsies, most of early onset, whether electroclinically or etiologically defined, of which LGS is one. Although we have moved forward in defining an increasing number of etiologically specific syndromes, this to date remains a minority of the DEEs. Although there is progress with precision medicine targeted at specific causes, the term LGS still remains useful as a diagnosis in defining treatment options, as well as overall prognosis.


Assuntos
Epilepsia Generalizada , Epilepsia , Síndromes Epilépticas , Síndrome de Lennox-Gastaut , Estado Epiléptico , Humanos , Síndrome de Lennox-Gastaut/diagnóstico , Eletroencefalografia , Epilepsia/diagnóstico , Síndromes Epilépticas/diagnóstico , Diagnóstico Diferencial , Estado Epiléptico/diagnóstico
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