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1.
Med Sci Monit ; 26: e920751, 2020 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-32134903

RESUMO

Todd's paralysis, a neurological abnormality characterized by temporary limb weakness or hemiplegia, typically occurs following a seizure, without enduring consequences. Since limb weakness or hemiplegia can also be a common symptom of an acute ischemic stroke, it is often difficult to diagnose Todd's paralysis in individuals experiencing an acute ischemic stroke if they do not have a pre-existing history of epilepsy. Given that there is a limited understanding of Todd's paralysis, this review discusses the history, prevalence, clinical manifestations, duration, etiology, and diagnosis of Todd's paralysis. A few factors that may help clinicians distinguish Todd's paralysis from other clinical indications are as follows: (1) Todd's paralysis is commonly observed after partial seizures or generalized tonic-clonic seizures. (2) The incidence of Todd's paralysis is greater if the epilepsy is associated with old age or stroke history. (3) The duration of Todd's paralysis can range from minutes to days, depending on the type of seizure or whether the patient has experienced cortical structural damage. (4) The etiology of Todd's paralysis is associated with cerebral perfusion abnormality after seizures. Further research is needed to explore factors that distinguish Todd's paralysis from other indications that may lead to limb weakness in order to improve the diagnosis of Todd's paralysis.


Assuntos
Paralisia/fisiopatologia , Convulsões/complicações , Epilepsia/complicações , Humanos , Paralisia/etiologia , Acidente Vascular Cerebral/complicações
2.
Zhonghua Er Ke Za Zhi ; 58(1): 35-40, 2020 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-31905474

RESUMO

Objective: To investigate the genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy (DEE). Methods: Clinical data including the manifestations and electroencephalogram of 8 children with KCNA2 variants treated in the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were collected and analyzed retrospectively. Results: Among the 8 epileptic patients with KCNA2 variants, 5 were males and 3 were females. The age of onset was from 1 day to 11 months. The age at last follow-up ranged from 4 months to 86 months. Two variants including c.1214C>T (loss-of-function) and c.1120A>G (gain-and loss-of-function) were identified. The variant of c.1214C>T was found in six patients (case 1-6). For these patients, the age of onset was from 5 to 11 months and they were characterized by multiple seizure types. All had focal seizures and had normal development before seizure onset with developmental regression after seizure onset. The first electroencephalogram showed epileptic discharges in Rolandic region in two, epileptic discharges in Rolandic region combined with generalized discharge in one, generalized discharge with posterior predominance in two (combined with or transferred to Rolandic region during the course) and epileptic discharges in posterior region combined with generalized discharge in one. And in 5 of them the Rolandic discharges developed into epileptic electrical status (ESES) during sleep. All the six patients were still treated with a combination of multiple antiepileptic drugs. Two of them had seizure controlled at 80 months and 68 months, respectively. The variant of c.1120A>G were identified in two of eight patients (case 7 and 8) and they had seizure onset on the 1st day after birth. Their epileptic seizures were frequent and difficult to control. They had remarkably developmental delay and microcephaly since birth. One case (case 8) had a wide forehead. They had frequent seizures up to the last follow-up. In case 7, the early electroencephalogram showed epileptic discharges in temporal region, and interictal electroencephalogram at 3 months of age showed multifocal discharge with posterior and temporal region predominance. In case 8, the early electroencephalogram was normal and electroencephalogram showed burst suppression at 2 months of age, and it developed epileptiform discharge in posterior region at 1 year of age. Conclusions: KCNA2 gene variants can lead to DEE with multiple seizures types. Among them, loss-of-function c.1214C>T is the most common, and these patients have seizure onset at infancy with Rolandic discharges tended to develop into to ESES pattern. The variant of c.1120A>G is a gain-of- and loss-of-function variant, patients with c.1120A>G have seizure onset in neonatal period, the phenotype overlaps with the former but is more severe.


Assuntos
Encefalopatias/genética , Epilepsia/diagnóstico , Canal de Potássio Kv1.2/genética , Convulsões , Idade de Início , Encéfalo/fisiopatologia , Encefalopatias/fisiopatologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/fisiopatologia , Epilepsia/complicações , Epilepsia/genética , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Estudos Retrospectivos
3.
Acta Neurol Scand ; 141(1): 33-37, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31532859

RESUMO

OBJECTIVES: To assess (a) the incidence of seizures in the first year of life in infants born to mothers with epilepsy and (b) factors that might contribute to the seizure incidence. MATERIALS & METHODS: Analysis of data collected in the Australian Register of Antiepileptic Drugs in Pregnancy during and at the end of the year after pregnancy. RESULTS: By the end of a year following pregnancy, seizures had occurred in the progeny of 47 pregnancies (2.40%), including febrile seizures in 18 (0.92%), the latter rate being higher than the 0.40% and 0.59% rates for the same situation in the general population reported in the recent literature. Seizures in infancy were more likely in the offspring of mothers with generalized as compared with focal epilepsies (3.65% vs 1.56%; RR = 2.332; P < .05) and within the generalized epilepsy mothers in those who were not seizure free during pregnancy (4.83% vs 2.89%). Seizures were also more likely in infants with foetal malformations, especially ones not discovered until after the first post-natal month. CONCLUSIONS: These findings may help in advising mothers with epilepsy regarding the chance of their offspring experiencing seizures in the first year of life; they also suggest the desirability of achieving maternal seizure control throughout pregnancy.


Assuntos
Epilepsia/complicações , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/etiologia , Complicações na Gravidez , Convulsões/epidemiologia , Adulto , Austrália/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Gravidez
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1111-1114, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703138

RESUMO

OBJECTIVE: To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders. METHODS: Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing. RESULTS: The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c.3842T to G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies. CONCLUSION: A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.


Assuntos
Deficiências do Desenvolvimento/genética , Epilepsia/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Pré-Escolar , Proteínas do Citoesqueleto , Deficiências do Desenvolvimento/complicações , Epilepsia/complicações , Humanos , Lactente , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Masculino , Mutação , Convulsões
6.
BMC Neurol ; 19(1): 255, 2019 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-31656168

RESUMO

BACKGROUND: Many patients with chronic illness have sexual dysfunction that may be related to the condition itself, drug side effects, emotional sequel, or a combination of those factors. Patients with epilepsy are no exception. Men and women with epilepsy are frequently complaining sexual dysfunction and they appear to have a higher incidence of sexual dysfunction than peoples with other chronic neurologic illness. These problems can have a substantial impact on their sexuality thus; it needs careful study and evaluation. METHODS: Hospital based cross sectional study was conducted from January to July, 2016 among Patient with Epilepsy at Amanuel Mental Specialty Hospital. Interviewer administered Changes in Sexual Functioning Questionnaire (CSFQ-14) was used in order to assess the sexual problems. Finally, the data was analyzed by using Statistical Package for Social Science (SPSS) V-20. Descriptive statistics and logistic regression were used to describe the variables. Levels of significance of association determined at < 0.05. RESULTS: A total of 694 respondents participated, with response rate 99.14%. Among them 576 completed all items. The result showed that 363 subjects (63.9, 95%CI = 59.5-67.7) had global sexual dysfunction. Furthermore, the rate of sexual dysfunction was reported as 55.6% (95%CI = 49.1-62.6) and 67.4% (95%CI = 62.8-72.1) in female and male participants, respectively. Among domains of sexual dysfunction; sexual arousal problem (97.8% (95%CI = 95.8-98.3)) and sexual pain problem (11.3% (95%CI = 8.8-13.9)) were the most and the least prevalent sexual dysfunctions respectively. Concerning associated factors; age grouped > 51, depression, being out of relationship or not satisfied with non-sexual aspect of relationship, being jobless and khat use has positive association with sexual dysfunction. By the other side alcohol use, level of education & age groups 18-21 years associated negatively. CONCLUSIONS: The prevalence of sexual dysfunction among patients with epilepsy is very high; its prevalence is more among males than females. Sexual arousal problem and sexual pain problem were the most and the least prevalent sexual dysfunctions respectively.


Assuntos
Epilepsia/complicações , Disfunções Sexuais Fisiológicas/epidemiologia , Disfunções Sexuais Fisiológicas/etiologia , Adolescente , Adulto , Estudos Transversais , Etiópia/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Adulto Jovem
8.
World Neurosurg ; 132: 93-98, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31491580

RESUMO

BACKGROUND: Focal cortical dysplasias (FCDs) are highly epileptogenic and frequently associated with medically refractory focal epilepsy. FCDs are frequently located in the frontal lobe, making its complete resection highly challenging when in proximity to the motor cortex. CASE DESCRIPTION: We report a case of a 25-year-old woman with medically refractory epilepsy secondary to a focal cortical dysplasia in the motor cortex and extending deeply into the subcortical white matter. A detailed presurgical evaluation and invasive electroencephalographic monitoring performed at our epilepsy monitoring unit, along with the use of motor mapping, functional magnetic resonance imaging, diffusion tensor imaging, and the Stealth navigation system resulted in the complete resection of the lesion without a permanent postoperative motor deficit. The patient remained seizure-free at a 63-month follow-up while being maintained on a single antiepileptic drug. CONCLUSION: A detailed presurgical evaluation, accurate mapping of the functional and dysplastic cortex, and a well-planned tailored and complete surgical resection of the cortical dysplasia can result in a favorable outcome with relatively little risk of postoperative neurologic deficit.


Assuntos
Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia/cirurgia , Malformações do Desenvolvimento Cortical do Grupo I/cirurgia , Córtex Motor/cirurgia , Procedimentos Neurocirúrgicos/métodos , Substância Branca/cirurgia , Adulto , Mapeamento Encefálico , Imagem de Tensor de Difusão , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia/complicações , Feminino , Neuroimagem Funcional , Humanos , Imagem por Ressonância Magnética , Malformações do Desenvolvimento Cortical do Grupo I/complicações
9.
Neurology ; 93(15): e1485-e1494, 2019 10 08.
Artigo em Inglês | MEDLINE | ID: mdl-31484709

RESUMO

OBJECTIVE: To determine the relationship between serum serotonin (5-HT) levels, ictal central apnea (ICA), and postconvulsive central apnea (PCCA) in epileptic seizures. METHODS: We prospectively evaluated video EEG, plethysmography, capillary oxygen saturation (SpO2), and ECG for 49 patients (49 seizures) enrolled in a multicenter study of sudden unexpected death in epilepsy (SUDEP). Postictal and interictal venous blood samples were collected after a clinical seizure for measurement of serum 5-HT levels. Seizures were classified according to the International League Against Epilepsy 2017 seizure classification. We analyzed seizures with and without ICA (n = 49) and generalized convulsive seizures (GCS) with and without PCCA (n = 27). RESULTS: Postictal serum 5-HT levels were increased over interictal levels for seizures without ICA (p = 0.01), compared to seizures with ICA (p = 0.21). In patients with GCS without PCCA, serum 5-HT levels were increased postictally compared to interictal levels (p < 0.001), but not in patients with seizures with PCCA (p = 0.22). Postictal minus interictal 5-HT levels also differed between the 2 groups with and without PCCA (p = 0.03). Increased heart rate was accompanied by increased serum 5-HT levels (postictal minus interictal) after seizures without PCCA (p = 0.03) compared to those with PCCA (p = 0.42). CONCLUSIONS: The data suggest that significant seizure-related increases in serum 5-HT levels are associated with a lower incidence of seizure-related breathing dysfunction, and may reflect physiologic changes that confer a protective effect against deleterious phenomena leading to SUDEP. These results need to be confirmed with a larger sample size study.


Assuntos
Apneia/complicações , Apneia/metabolismo , Morte Súbita/etiologia , Epilepsia/complicações , Epilepsia/metabolismo , Serotonina/metabolismo , Adolescente , Adulto , Idoso , Apneia/fisiopatologia , Eletroencefalografia/métodos , Epilepsia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Convulsões/complicações , Convulsões/fisiopatologia
10.
Psychiatr Danub ; 31(Suppl 3): 467-474, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488774

RESUMO

Music is a very important factor in everyday life, involving mood, emotions and memories. The effect of music on the brain is very debated. Certainly, music activates a complex network of neurones in auditory areas, mesolimbic areas, cerebellum and multisensory areas. In particular, music exerts its effects on the brain of patients with epilepsy, having a dichotomous influence: it can either be seizure-promoting in musicogenic epilepsy or antiepileptic. Several studies have shown that seizure-prone neural networks may be stimulated by certain periodicities while other frequencies may prevent seizure activity. There are a lot of data in the literature about the so-called "Mozart effect" (Rauscher et al. 1993). In previous studies we observed that in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy, a systematic music listening protocol reduced the frequency of seizures in about 50% of the cases. In this study we are conducting a survey on the observation of what happens to the brain of patients suffering from drug-resistant epilepsy through electroencephalographic investigations, brain MRI and behavioural analysis before and after six months of listening to Mozart music (Sonata K.448). The first step is to present the data of the first patient under investigation.


Assuntos
Epilepsia/fisiopatologia , Epilepsia/reabilitação , Musicoterapia , Música/psicologia , Convulsões/prevenção & controle , Convulsões/fisiopatologia , Estimulação Acústica , Mapeamento Encefálico , Eletroencefalografia , Epilepsia/complicações , Humanos , Convulsões/complicações
11.
Zhonghua Yi Xue Za Zhi ; 99(33): 2615-2618, 2019 Sep 03.
Artigo em Chinês | MEDLINE | ID: mdl-31510723

RESUMO

Objective: To explore the clinical features and genetic causes of autism spectrum disorder (ASD) patients with epilepsy. Methods: The clinical data of five patients with ASD and epilepsy admitted to Xuanwu Hospital between September 2017 and September 2018 were collected, including medical history, intelligence level, developmental level, physical examination, neuroimaging and electroencephalogram. High-throughput whole-genome sequencing was applied to five patients and their parents. Results: Of five patients, four were male and one was female. All five patients had mild mental retardation, and one patient had significant growth retardation and craniofacial deformity. The average epilepsy onset age was 6.3 years old (7 months to 16 years). The main epileptic type was tonic-clonic seizure with abnormal EEG results. All patients have a favorable response to anti-epileptic drugs. Whole-exome sequencing (WES) revealed copy number variation in all 5 patients. Among them, 3 cases were reported to be pathogenic, and 2 cases were not reported (chromosome 16p13.3 duplication and chromosome 21q22.3 deletion). Conclusions: The results of current study support that autism spectrum disorders with seizures is often associated with copy number variations, such as Williams-Beuren region duplication syndrome, chromosome 15q11.2 duplication syndrome and chromosome 15q11.2 deletion syndrome. We reported two novel copy number variations (chromosome 16p13.3 duplication and chromosome 21q22.3 deletion) in two autism spectrum disorder patients with epileptic seizures.


Assuntos
Transtorno do Espectro Autista , Epilepsia , Adolescente , Transtorno do Espectro Autista/complicações , Criança , Pré-Escolar , Aberrações Cromossômicas , Cromossomos Humanos , Variações do Número de Cópias de DNA , Epilepsia/complicações , Feminino , Humanos , Lactente , Masculino , Convulsões
12.
Neurología (Barc., Ed. impr.) ; 34(7): 437-444, sept. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-186345

RESUMO

Objetivos: Describir las características clínicas y sociodemográficas de pacientes con epilepsia de un centro de referencia de Colombia. Métodos: Estudio de corte transversal. Se incluyó a los pacientes con diagnóstico de epilepsia que acudieron al centro de epilepsia Neurocentro en el período comprendido entre los años 2013 y 2016. La información se obtuvo de las historias clínicas. Resultados: Se estudió a 354 pacientes con diagnóstico de epilepsia. La mediana de edad fue de 37 años y el 52% eran hombres. El 57% presentó crisis de tipo focales, el 38% de tipo generalizada y 6% sin clasificar. La etiología más prevalente fue la criptogénica (21%) seguida de la traumática (14%). La mediana de tiempo de evolución de la epilepsia y de inicio de las crisis fue de 23 años y 11 años, respectivamente. La comorbilidad psiquiátrica se encontró en el 18% de los pacientes. El 40% presentó algún grado de deterioro cognitivo y la misma proporción refirió efectos adversos a los antiepilépticos en algún momento durante su tratamiento. El manejo farmacológico con antiepilépticos en monoterapia se presentó en el 36%. La farmacorresistencia fue hallada en 37% de los estudiados. Se realizó intervención quirúrgica en el 14% del total de pacientes. Conclusiones: Observamos que la comorbilidad psiquiátrica, el deterioro cognitivo, las reacciones adversas a los antiepilépticos y la farmacorresistencia son frecuentes entre los pacientes epilépticos en Colombia. Esperamos que este estudio sirva como soporte para lograr una legislación en salud más integral que mejore la calidad de vida de estos pacientes teniendo en cuenta todas las variables que influyen en la enfermedad


Objectives: To describe the sociodemographic and clinical characteristics of a cohort of patients with epilepsy from a reference centre in Colombia. Methods: Cross-sectional study including patients diagnosed with epilepsy who attended our epilepsy centre (Neurocentro) between 2013 and 2016. Data were gathered from patients' medical histories. Results: We gathered data from a total of 354 patients diagnosed with epilepsy. Median age was 37 years; 52% were men. Seizures were focal in 57% of the patients and generalised in 38%; seizure type was not determined in 6% of the sample. The most frequent aetiology was cryptogenic (21%), followed by traumatic (14%). Median time of disease progression and age at onset were 23 and 11 years, respectively. Psychiatric comorbidities were found in 18% of the patients and 40% had some degree of cognitive impairment. Around 40% of our sample reported adverse reactions to antiepileptic drugs at some point during treatment. Antiepileptic drugs were administered in monotherapy in 36% of the patients. Around 37% had drug-resistant epilepsy and 14% underwent surgery. Conclusions: Psychiatric comorbidities, cognitive impairment, adverse drug reactions, and drug-resistant epilepsy are common among epileptic patients in Colombia. Knowledge of the factors with an impact on epilepsy may lay the foundations for improving management of these patients on the administrative level and improving quality of life


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Epilepsia/complicações , Epilepsia/diagnóstico , Epilepsia/tratamento farmacológico , Estudos Transversais , Demografia , Fatores Sociológicos , Colômbia
13.
Epileptic Disord ; 21(4): 337-346, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31371275

RESUMO

Differentiation between syncope secondary to epileptic seizures and cardiac disease in patients displaying transient loss of consciousness associated with convulsive movements is a diagnostic challenge both for neurologists and cardiologists. In such patients, prolonged video-EEG monitoring not only helps in identifying asystole as the cause of syncope, but also in categorizing asystole as primarily cardiac in origin (cardiac asystole) and secondary to epileptic seizures (ictal asystole). We carried out this study to ascertain the prevalence of asystole in an epilepsy monitoring unit, and to contrast the clinical and electrophysiological characteristics between ictal asystole and cardiac asystole. Through a retrospective search, we identified patients who were shown to have had asystole using a database of patients who underwent prolonged video-EEG monitoring during a 68-month period. We compared the data of 18 consecutive patients; five with ictal asystole and 13 with cardiac asystole, with 121 and 64 events recorded from them, respectively. Of the 10,096 patients who underwent prolonged video-EEG monitoring during the study period, we identified 18 (0.17%) patients with asystole. Cardiac asystole was 2.6 times more frequent than ictal asystole. Older age at onset, heralding symptoms of presyncope, occurrence during wakefulness, and brief duration of the events supported the diagnosis of cardiac asystole. Ictal asystole events were more protracted, and prolonged asystole more frequently occurred in patients with extratemporal seizures compared to temporal lobe seizures. Asystole occurred in only half of the recorded seizures. The accurate categorization of asystole as seizure-related or heart disease-related has huge implications for management strategy and outcome. The necessity of permanent pacemaker implantation is more frequent and urgent in patients with cardiac asystole because of the greater risk of sudden death. Hence, in patients with an ominous diagnosis of cardiac asystole, a thorough cardiac evaluation should surpass neurological evaluation.


Assuntos
Eletroencefalografia , Fenômenos Eletrofisiológicos/fisiologia , Parada Cardíaca/etiologia , Monitorização Fisiológica , Idoso , Eletrocardiografia/métodos , Eletroencefalografia/métodos , Epilepsia/complicações , Feminino , Parada Cardíaca/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Convulsões/diagnóstico , Convulsões/fisiopatologia
14.
Med Hypotheses ; 130: 109263, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31383331

RESUMO

Ketosis is a metabolic state in which the body uses ketones derived from breakdown of fatty acids as the primary mitochondrial fuel source instead of glucose. In recent years an accumulation of evidence for the beneficial effects of the ketotic state on the brain have heightened interest in its potential for use in neurological conditions. The ketogenic diet (KD) induces ketosis and is an effective treatment for medically resistant epilepsy. There is significant comorbidity between epilepsy and bipolar disorder (BD) and both conditions are treated by anti-convulsant drugs. In addition, reports on bipolar disease online fora have highlighted subjective mood stabilization effects associated with the KD. These KD reported effects could be explained if there was a disorder in the conversion of pyruvate into Acetyl-CoA (and subsequent impairment of oxidative phosphorylation) which was bypassed by ketones providing an alternative substrate for oxidative phosphorylation. This is consistent with growing evidence that mitochondrial dysfunction plays a causal role in BD and explains the reported TCA cycle dysfunction and elevated pyruvate levels in BD. Reduced levels of ATP affects the normal operation of the Na, K-ATPase in the brain with differing levels of reduction either leading to reduced neuronal action potential and inhibition of neurotransmitter release (consistent with the depressed state in BD) or increased neuronal resting potential and hyper-excitability (consistent with a [hypo]manic mood state). We hypothesize that the mitochondrial dysfunction is due to a disorder of the Pyruvate Dehydrogenase Complex (PDC) and/or Mitochondrial Carrier Protein (MCP) shuttle which moves intracellular pyruvate into mitochondria. The resultant reduction in ATP generation could explain mood instability and cycling in BD (through mechanisms such as those delineated by Mallakh and Peters). This proposed novel causal pathway could explain mood de-stabilization in BD and the reported positive effects of KD. If true, this hypothesis would suggest that there should be increased research attention to PDC (and in particular the E1 alpha subunit) as potential therapeutic targets and further study of a possible role of KD in BD to improve mood stability. Experimental approaches, such as through a clinical trial of KD on mood stabilization in BD, are required to further investigate this hypothesis.


Assuntos
Transtorno Bipolar/enzimologia , Transtorno Bipolar/fisiopatologia , Complexo Piruvato Desidrogenase/metabolismo , Acetilcoenzima A , Potenciais de Ação , Trifosfato de Adenosina/metabolismo , Afeto , Transtorno Bipolar/complicações , Dieta Cetogênica , Epilepsia/complicações , Humanos , Cetonas/metabolismo , Cetose , Mitocôndrias/patologia , Doenças Mitocondriais/metabolismo , Modelos Biológicos , Neurônios/metabolismo , Fosforilação Oxidativa
16.
Epileptic Disord ; 21(4): 371-374, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31366452

RESUMO

The aim of this study was to investigate the frequency of attacks (psychogenic seizures) in patients with psychogenic non-epileptic seizures (PNES) and to characterize factors potentially associated with attack frequency. In this retrospective study, all patients with PNES, who were studied at Shiraz Comprehensive Epilepsy Center at Shiraz University of Medical Sciences, Iran, from 2008 until 2018, were reviewed. We categorized the attack frequency in the patients as (1) daily; (2) weekly; and (3) frequency of less than one per week. Three hundred and ten patients were studied. Attack frequency in patients was 34 ± 67 per month. One hundred and eleven patients (36%) had daily attacks, 93 (30%) had weekly attacks, and 106 (34%) had less than weekly attacks. Sixty-five patients (21%) reported having more than one attack per day. Demographic variables, attack-related variables, PNES associated factors, and use of AEDs were not significantly associated with attack frequency in the patients. We observed that two thirds of the patients with PNES had frequent daily or weekly attacks. The findings of our study could be helpful in designing future clinical trials. First, attack frequency is an unbiased outcome measure in the design of such studies. Second, it is easily measurable using attack calendars; we suggest that attack frequency be assessed daily using daily attack calendars. Finally, it is very easy to recruit patients with PNES for clinical trials (with regards to their attack frequency) since many of them have frequent attacks.


Assuntos
Transtornos Psicofisiológicos/fisiopatologia , Convulsões/fisiopatologia , Adulto , Eletroencefalografia/métodos , Epilepsia/complicações , Epilepsia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Transtornos Psicofisiológicos/complicações , Convulsões/complicações , Gravação em Vídeo , Adulto Jovem
17.
Saudi Med J ; 40(8): 810-814, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31423518

RESUMO

OBJECTIVES: To evaluate the outcomes of fundoplication and gastrostomy (GT) in neurologically impaired (NI) children. Methods: A retrospective review of medical charts was performed on 178 NI children up to the age of 14 years inclusive, who underwent fundoplication and GT between 1999 and 2014. Results: After fundoplication, the incidence-rate (person-month) of all hospital admissions (0.95 versus 0.13; p less than 0.001), gastroesophageal reflux (GER) - related admissions (0.67 versus 0.09; p less than 0.001), and admissions for seizures (0.21 versus 0.01; p less than0.001 were significantly decreased. Furthermore, all emergency department visits (0.94 versus 0.23; p less than 0.001), GER visits (0.61 versus 0.12; p less than 0.001), seizure visits (0.24 versus 0.01: p less than 0.001) were significantly reduced. The mortality rate after fundoplication was 35%.The risk factors for predicting mortality were being male (odds ratio: 2.2, p=0.027) and being a do not resuscitate (DNR) child (odds ratio: 5.2, p less than 0.001). Majority of the children that died within a year after the procedure were DNR. Conclusions: Fundoplication with GT is effective in reducing hospital admissions and emergency department visits from GER and seizures in NI children. Because of high mortality within a year of fundoplication and GT in DNR children, anti-reflux medications with GT might be an alternative.


Assuntos
Fundoplicatura/métodos , Refluxo Gastroesofágico/cirurgia , Gastrostomia/métodos , Hospitalização/estatística & dados numéricos , Doenças do Sistema Nervoso/complicações , Aspiração Respiratória/prevenção & controle , Paralisia Cerebral/complicações , Criança , Pré-Escolar , Nutrição Enteral , Epilepsia/complicações , Feminino , Refluxo Gastroesofágico/complicações , Humanos , Hipóxia-Isquemia Encefálica/complicações , Lactente , Masculino , Estudos Retrospectivos , Arábia Saudita , Convulsões , Centros de Atenção Terciária
18.
Nat Rev Neurol ; 15(8): 459-472, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31263255

RESUMO

Epilepsy is a chronic neurological disease characterized by an enduring propensity for generation of seizures. The pathogenic processes of seizure generation and recurrence are the subject of intensive preclinical and clinical investigations as their identification would enable development of novel treatments that prevent epileptic seizures and reduce seizure burden. Such treatments are particularly needed for pharmacoresistant epilepsies, which affect ~30% of patients. Neuroinflammation is commonly activated in epileptogenic brain regions in humans and is clearly involved in animal models of epilepsy. An increased understanding of neuroinflammatory mechanisms in epilepsy has identified cellular and molecular targets for new mechanistic therapies or existing anti-inflammatory drugs that could overcome the limitations of current medications, which provide only symptomatic control of seizures. Moreover, inflammatory mediators in the blood and molecular imaging of neuroinflammation could provide diagnostic, prognostic and predictive biomarkers for epilepsy, which will be instrumental for patient stratification in future clinical studies. In this Review, we focus on our understanding of the IL-1 receptor-Toll-like receptor 4 axis, the arachidonic acid-prostaglandin cascade, oxidative stress and transforming growth factor-ß signalling associated with blood-brain barrier dysfunction, all of which are pathways that are activated in pharmacoresistant epilepsy in humans and that can be modulated in animal models to produce therapeutic effects on seizures, neuronal cell loss and neurological comorbidities.


Assuntos
Encefalite/diagnóstico , Encefalite/metabolismo , Epilepsia/diagnóstico , Epilepsia/terapia , Animais , Ácido Araquidônico/metabolismo , Biomarcadores/sangue , Encefalite/complicações , Epilepsia/complicações , Epilepsia/metabolismo , Humanos , Estresse Oxidativo , Prostaglandinas/metabolismo , Receptores de Interleucina-1/metabolismo , Transdução de Sinais , Receptor 4 Toll-Like/metabolismo , Fator de Crescimento Transformador beta/metabolismo
19.
Indian J Pathol Microbiol ; 62(3): 445-447, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31361236

RESUMO

Pleomorphic xanthoastrocytoma (PXA) is an uncommon, long-term epilepsy associated tumor of young adults. Its pigmented variant is exceedingly rare, with only five previously reported cases on record. We report the sixth case of pigmented PXA in a 24-year-old lady presenting with long-standing seizures. The MRI revealed a solid cystic lesion located in the right medial temporal lobe. Histopathologically, the superficially located tumor showed typical features of PXA with melanin-laden astrocytic component and was negative for V600E-mutant BRAF. The histogenesis is discussed.


Assuntos
Astrocitoma/diagnóstico , Astrocitoma/etiologia , Neoplasias Encefálicas/etiologia , Epilepsia/complicações , Adulto , Lobectomia Temporal Anterior , Astrocitoma/cirurgia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Feminino , Humanos , Imagem por Ressonância Magnética , Melaninas , Mutação , Pigmentação
20.
J Clin Neurosci ; 67: 129-133, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31213383

RESUMO

INTRODUCTION: Stroke mimics (SM) account for 1% to 41% of all AIS presentation. Seizures are the most frequent cause of mimic, but isolated speech impairment, among adult-onset epilepsy, is quite rare, while aphasia is more often due to an AIS. Prompt AIS/SM recognition is required to establish the most appropriate therapeutic management. We aimed at identifying some predictive clinical and anamnestic features useful to differentiate SM from AIS, particularly in patients presenting with aphasia. MATERIALS AND METHODS: A retrospective study of patients admitted for a suspected stroke, from January 2015 until January 2017 was performed. We identified patients discharged with a final diagnosis of aphasia and patients with seizures presenting with speech impairment. Anamnestic, clinical and diagnostic were reviewed. Univariate analyses determined key clinical features predictive of AIS versus an epileptic SM. RESULTS: 72 patients with sudden onset of aphasia were identified. A cerebrovascular etiology was diagnosed in 50 patients while an epileptic SM in 22. The presence of ischemic cardiopathy, atrial fibrillation and mild lateralizing signs were strongly suggestive of stroke. Otherwise, a previous history of epilepsy, alteration of consciousness, concomitant infection and electrolyte imbalance were predictors of a SM. CONCLUSIONS: Our study underscores the importance of an accurate clinical bed-side assessment as the first step in the diagnostic and therapeutic decision-making process for patients presenting with aphasia. The detection of clinical and anamnestic features associated with an epileptic SM could be useful for the diagnostic process and for time-critical treatments.


Assuntos
Afasia/etiologia , Isquemia Encefálica/complicações , Isquemia Encefálica/diagnóstico , Epilepsia/complicações , Epilepsia/diagnóstico , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico , Adulto , Idoso , Feminino , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade , Alta do Paciente , Estudos Retrospectivos , Convulsões
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