摘要
Epilepsy's cyclic nature, increasingly quantified through advancements in continuous electroencephalography (cEEG), reveals robust seizure cycles including circadian, multidien, and circannual rhythms. Understanding these cycles' mechanisms and clinical implications, such as seizure forecasting and optimized treatment timing, is crucial. Despite historical observations, detailed analysis of seizure timing cycles has become feasible only recently, necessitating further research to confirm generalizability and clinical relevance. This paper reviews current literature on circadian rhythms in epilepsy, focusing on temporal seizure patterns and identifying knowledge gaps. A comprehensive review of studies, primarily using PubMed, synthesizes key findings from 20 studies on the temporal dynamics of epileptic activity. Research shows consistent circadian rhythms in seizure activity, with distinct daily peaks. Seizures often follow daily patterns, termed "seizure rush hours," with specific seizure types linked to particular times and influenced by sleep-wake cycles. These findings underscore the importance of understanding temporal patterns in epilepsy. Understanding these rhythms can enhance seizure prediction, diagnosis, and personalized treatment strategies. The significant role of biological rhythms suggests that tailored treatments based on individual circadian profiles could improve patient outcomes and quality of life. Further research is essential to elucidate the mechanisms driving these influences and validate findings across diverse cohorts.
A natureza cíclica da epilepsia, cada vez mais quantificada por meio dos avanços na eletroencefalografia contínua (cEEG), revela ciclos de crises epilépticas (CE) robustos, incluindo ritmos circadianos, multidiários e circanuais. Compreender os mecanismos e as implicações clínicas desses ciclos, como a previsão de CE e a otimização do momento do tratamento, é crucial. Apesar das observações históricas, a análise detalhada dos ciclos de tempo das CE tornou-se viável apenas recentemente, exigindo mais pesquisas para confirmar a generalização e a relevância clínica. Este artigo revisa a literatura atual sobre ritmos circadianos na epilepsia, focando nos padrões temporais das CE e identificando lacunas no conhecimento. Uma revisão abrangente dos estudos, principalmente utilizando o PubMed, sintetiza os principais achados de 20 estudos sobre a dinâmica temporal da atividade epiléptica. A pesquisa mostra ritmos circadianos consistentes na atividade das CE, com picos diários distintos. As CE frequentemente seguem padrões diários, denominados "horários de pico das convulsões" ("seizure rush hours"), com tipos específicos de CE vinculados a determinados horários e influenciados pelos ciclos sono-vigília. Esses achados destacam a importância de entender os padrões temporais na epilepsia. Compreender esses ritmos pode melhorar a previsão, o diagnóstico e as estratégias de tratamento personalizado das CE. O papel significativo dos ritmos biológicos sugere que tratamentos personalizados com base nos perfis circadianos individuais podem melhorar os resultados e a qualidade de vida dos pacientes. Mais pesquisas são essenciais para elucidar os mecanismos que impulsionam essas influências e validar os achados em diversas coortes.
摘要
Muchas enfermedades neurológicas son condiciones crónicas complejas influenciadas en muchos niveles por cambios en el medio ambiente. El cambio climático (CC) se refiere a la gama más amplia de cambios locales, regionales y globales en los patrones climáticos promedio, impulsados principalmente, en los últimos 100 años, por actividades antropogénicas. Diversas variables climáticas se asocian con una mayor frecuencia de convulsiones en personas con epilepsia. Es probable que los riesgos se vean modificados por muchos factores, que van desde la variación genética individual y la función del canal dependiente de la temperatura, hasta la calidad de la vivienda y las cadenas de suministro globales. Los diferentes tipos de epilepsia parecen tener una distinta susceptibilidad a las influencias estacionales. El aumento de la temperatura corporal, ya sea en el contexto de la fiebre o no, tiene un papel crítico en el umbral convulsivo. Es probable que los vínculos entre el cambio climático y la epilepsia sean multifactoriales, complejos y, a menudo, indirectos, lo que dificulta las predicciones. Actualmente necesitamos más datos sobre los posibles riesgos en enfermedades; entre ellas la epilepsia. Se presentan 2 casos clínicos que refieren cambios en la frecuencia de sus crisis en relación a las altas temperaturas registradas.
Many neurological diseases are complex chronic conditions influenced on many levels by changes in the environment. Climate change refers to the widest range of local, regional, and global changes in average weather patterns, driven primarily, over the past 100 years, by anthropogenic activities. Various climatic variables are associated with an increased frequency of seizures in people with epilepsy. Risks are likely to be modified by many factors, ranging from individual genetic variation and temperature-dependent channel function, to housing quality and global supply chains. Different types of epilepsy appear to have different susceptibility to seasonal influences. Increased body temperature, whether in the context of fever or not, plays a critical role in the seizure threshold. The links between climate change and epilepsy are likely to be multifactorial, complex, and often indirect, making predictions difficult. We currently need more data on the possible risks of disease; among them epilepsy. We present 2 clinical cases that refer to changes in the frequency of their seizures in relation to the high temperatures recorded.
Subject(s)
Humans , Child , Climate Change , Epilepsy/drug therapy , Central Nervous System Depressants/therapeutic use , Valproic Acid/therapeutic use , Levetiracetam/therapeutic use , Melatonin/therapeutic use , Anticonvulsants/therapeutic use摘要
I have been a nurse for 49 years, a person living with epilepsy for 35 years, and in recovery from depression for 16 years. I wish to reflect on my professional life lived alongside my illnesses. Everyone has the right to learn from their errors. As someone with epilepsy, I have made many mistakes. However, I have managed to develop the strength of “independently controlling my seizures.” I aim to compile my insights on illnesses, disabilities, and other necessary considerations, to experiment with them, and to discover their potential.
摘要
Objective To analyze the main factors influencing the management effect of rural epilepsy prevention and control projects in Hubei Province, and to provide reference for further improving the management effect. Methods According to the phenobarbital treatment and management plan of the rural epilepsy project, the target population was screened and reviewed, and patients who met the inclusion criteria were enrolled into the project management. Regular follow-up visits, free drug treatment, health education and other measures were carried out, and all relevant information was collected and integrated into the survey data. After the data was reviewed level by level, SPSS20.0 software was used for statistical analysis. Results From January 1, 2015 to December 31, 2020, among patients treated and managed with phenobarbital in 6 project counties, 1430 patients were treated and managed for more than 1 year, of whom 1119 (78.25%) had no seizures or had more than 75% reduction in the number of seizures during the observation period. Compared with other age groups, the age group of 65 years and above had the highest markedly effective/effective ratio (95.77%). From the point of follow-up, the markedly effective/effective ratio of 5 years and above was the highest (91.51%). Compared with those who received no treatment prior to enrollment and those who received regular treatment, the patients receiving informal treatment had the lowest markedly effective/effective ratio (82.43%). 1213 cases (84.83%) had good compliance during the observation period, of whom 1062 cases (87.55%) had a reduction in the number of seizures by more than 50% compared with that before treatment. Univariate analysis showed that the age of patients, the length of follow-up, the treatment status before enrollment, the average daily dose of phenobarbital and the compliance of patients all had an impact on the management effect, and the difference was statistically significant (P<0.05). Multivariate analysis showed that the markedly effective/effective rate of patients in the age group of 65 years and above was 6.749 times that of the younger age group. Receiving informal treatment prior to enrollment was a risk factor for difficult-to-control epilepsy. The markedly effective/effective rate of patients receiving informal treatment was 0.29 times that of patients never receiving treatment. Good compliance was a protective factor for epilepsy control, and the markedly effective/effective rate of patients with good compliance was 2.058 times that of patients with poor compliance. Conclusion The epilepsy prevention and management project in rural areas has a significant effect on seizure control. Early treatment, standardized treatment, and improvement of treatment compliance are effective ways to improve the management effect of epilepsy patients.
摘要
Objective To investigate and analyze the behavioral and pathological differences in early-stage mouse models of epilepsy established by 2 different administration routes for kainic acid(KA),intracerebroventricular(ICV)injection and intraperitoneal(IP)injection.Methods A total of 100 male C57BL/6N wild-type(WT)mice(20～22 g)were randomly divided into ICV+normal saline(NS)control group(n=10),ICV+KA model group(n=40),IP+NS control group(n=10)and IP+KA model group(n=40).The ICV+KA model group was given 600 nL of KA(0.5 mg/mL)via ICV injection,and the IP+KA model group was injected with different dose of KA(25 mg/kg).Two control groups were administered equal volumes of NS via corresponding routes.After 3 d of modeling,the evaluation of behavioristics,molecular biology(including Western blotting),and neuropathological assessments(including FJB staining,TUNEL staining and immunofluorescence staining)were performed.Results No epileptic seizures were observed in both 2 control groups,while exhibited seizures were observed in both model groups.The mortality rates of the IP+KA group and the ICV+KA group were 47.50%and 65.00%respectively,while the success rates of modeling were 80.00%and 60.00%respectively.Compared with the IP+KA group,the ICV+KA group showed a significant increase in success rate and a significant reduction in mortality rate.FJB and TUNEL staining results showed that,compared with the IP+KA group,the severity of neurodegeneration and apoptotic changes in the hippocampus of the ICV+KA group were more significant(P＜0.05).Compared with the IP+KA group,there was also a significant difference in the expression of apoptotic proteins in the hippocampus of the ICV+KA group(P＜0.05).Immunofluorescence results showed that the astrocytes and microglia in the hippocampus and cortex of the ICV+KA and IP+KA groups were significantly activated compared with the control groups(P＜0.05),but the activation of glial cells in the hippocampus and cortex of the ICV+KA group was stronger than that of the IP+KA model group(P＜0.05)and the activation levels in the ICV+KA group were higher than in the IP+KA model group(P＜0.01).Moreover,expression levels of GFAP and Iba-1 proteins in the hippocampus and cortex were higher in the ICV+KA group than the IP+KA group(P＜0.05).Conclusion Two routes of KA administration are effective in construct epilepsy models.The mice with ICV administration route show a higher success rate and lower mortality rate,and more significant neuropathological damage and glial cell activation.
摘要
Objective:To analyze the medication characteristics of ancient prescriptions for pediatric epilepsy (PE) through data mining; To summarize the compatibility law; To provide a reference for the treatment selection of Chinese materia medica and the development of patent drugs related to PE in clinic.Methods:Those with definite composition, dosage and efficacy for the treatment of PE was screened from the data of TCM prescription designed by Institute of Traditional Chinese Medicine Information, China Academy of Traditional Chinese Medicine. Excel 2013 was used to analyze the frequency of Chinese materia medica and its flavor and meridian tropism in the included prescriptions. The arules package in R 3.6.3 was used for association analysis based on Apriori algorithm. The sankey package and ggraph package of R 3.6.3 were used to draw the network diagram of the property, taste, meridian tropism and association rules of high-frequency Chinese medicine, so as to realize data visualization.Results:A total of 360 ancient prescriptions for the treatment of PE were included, and the dosage form was mainly pills. Most of the prescriptions were composed of 1 to 10 kinds of Chinese materia medica, with a total of 192 (53.33%, 192/360) prescriptions. 152 kinds of Chinese materia medica were included. The most commonly used types of Chinese materia medica were Glycyrrhizae Radix et Rhizoma, Moschus, Saposhnikoviae Radix, Gastrodiae Rhizoma, and Aconiti Lateralis Radix Praeparata. The properties of high-frequency Chinese materia medica (frequency≥30) were characterized by warm and mild, and the tastes were mainly pungent, bitter and sweet, and the meridians were mainly spleen and liver meridians. Through Apriori association analysis, the commonly used combination drugs were Bovis Calculus-Moschus, Ginseng Radix et Rhizoma-Poria and Saposheikovize Radix-Glycyrrhizae Radix et Rhizoma. Similarly, the commonly used triple drugs included Gastrodiae Rhizoma-Aconiti Lateralis Radix Praeparata-Bombyx Batryticatus, Poria-Glycyrrhizae Radix et Rhizoma-Ginseng Radix et Rhizoma, and Moschus-Bovis Calculus-Realgar.Conclusions:The ancient prescriptions for the treatment of PE is mainly composed of wind-calming, resuscitation and tonifying drug. The core prescription ideas of the ancient prescriptions are as follows: dispelling phlegm and dispelling wind, warming the meridian and dispelling yang, resuscitating and relieving spasms, clearing heat and reducing depression, and tonifying qi and blood.
摘要
Epilepsy is a common neurological disease,has the characteristics of recurrent attacks and long-term treatment,thus bringing great pressure to patients and their families.Therefore,it is particularly important to do a good job of disability assessment.In recent years,with the development of the discipline,academic organizations such as the International League Against Epilepsy(ILAE)and China Association Against Epilepsy(CAAE)have successively updated the definition and diagnostic criteria of epilepsy and seizures.However,some items of epilepsy in the current Criteria for Disability Rating of Military Personnel(Trial)issued by People's Liberation Army(PLA)in 2011 can no longer meet the latest guidelines at home and abroad.Therefore,we suggest that the items related to epilepsy in the Criteria for Disability Rating of Military Personnel(Trial)should be revised to ensure that the disability evaluation being completed fairly and successfully.
摘要
Objective To explore the treatment gap and influencing factors of convulsive epilepsy in rural areas of Jiangsu Province.Methods The clinical data of 7836 rural convulsive epilepsy patients screened from 2005 to 2020 were statistically analyzed,and the treatment status,treatment gap and related influencing factors of epilepsy patients were analyzed.Results A total of 7836 patients with convulsive epilepsy were enrolled in this study.The treatment gap for convulsive epilepsy in rural areas of Jiangsu Province was 69.05%.There was no significant difference in the treatment gap between different genders(P＞0.05).There were statistically significant differences in the treatment gap between age(χ2 = 12.196,P =0.007),age of onset(χ2 =58.658,P＜0.001),disease duration(χ2 =65.430,P＜0.001),seizure frequency(χ2 =171.276,P＜0.001),and hospitalization level(χ2 = 122.076,P＜0.001).Multivariate Logistic regression analysis showed that the older the age of onset was,the shorter the course of the disease was,the more frequent the seizures was,and the greater the treatment gap in patients with epilepsy was(all P＜0.05).Patients aged 45-59 years(P =0.012)and treated in municipal and county hospitals(P＜0.001)were more likely to receive regular anti-epileptic treatment.Conclusions There is a significant treatment gap for convulsive epilepsy patients in rural areas of Jiangsu Province.This may be due to insufficient awareness of epilepsy and the underdevelopment of primary healthcare institutions.
摘要
Objective To investigate the clinical features of Menkes disease(MD)caused by ATP7A gene mutation.Methods Clinical data of one MD patient was retrospectively analyzed,and the literature on the MD cases was reviewed.Results The patient was a 7-month-old male.The initial symptoms were epilepsy,feeding difficulties and psychomotor retardation,followed by distinctive facial appearance,hair abnormality,pectus excavatum and hypotonia.Biochemical tests revealed reduced serum ceruloplasmin and copper.Brain MRI showed diffuse cerebral atrophy,cerebral dysplasia and subdural effusion.Genetic testing showed that there was a new hemizygous mutation c.2916+2(IVS14)T＞C in the ATP7A gene splicing site on the X chromosome,which verified that the mother was a heterozygous carrier with a normal phenotype.Conclusions MD often starts in infancy and childhood.MD may involve multi-system such as the nervous system and connective tissues,and should be diagnosed with genetic testing.
摘要
Epilepsy is a kind of brain dysfunction syndrome characterized by paroxysmal,transient,repetitive and rigid characteristics caused by abnormal discharge of highly synchronized neurons in the brain.Epilepsy is often accompanied by cognitive dysfunction.At present,anti-seizure medications are the most important methods of clinical treatment.Most of the traditional anti-seizure medications can cause cognitive dysfunction,and the influence of new anti-seizure medications on cognitive function is not completely clear.This paper reviews the influence of new anti-seizure medications on cognitive function and the possible related mechanisms of action based on relevant literature at home and abroad.It is expected that clinicians should pay attention to cognitive function in the process of diagnosis and treatment of epilepsy,and help clinicians realize the influence of anti-seizure medications on cognitive function,and rationally choose anti-seizure medications for patients.
摘要
Fragile X syndrome(FXS)is caused by abnormal duplication and amplification of the FMR1 gene CGG.This article reports a pair of brothers diagnosed with FXS by genetic testing.Two patients,aged 15 and 14 years old respectively,both had clinical manifestations such as language disorders,intellectual disabilities,attention deficit disorder,autism spectrum disorder,and FXS's characteristic facial features.The proband had a rare late-onset epileptic seizure,which was well treated with levetiracetam,while his younger brother had no electroencephalogram abnormalities after repeated follow-up.This pair of cases suggests that the clinical phenotype of FXS has diversity and heterogeneity.
摘要
Objective:To investigate the expression of hippocampal synapse-related proteins including synaptophysin (SYN), postsynaptic density protein 95 (PSD95) and growth-associated protein 43 (GAP43) in rats with epilepsy accompanied by depression.Methods:The 3-month-old female clean grade SD rats were selected for the experiment.Lithium chloride pilocarpine was used to establish an epileptic rat model. Rats with successful epilepsy models were divided into epileptic depressive group (EWD group)and epileptic group with 10 in each group based on whether they were accompanied by depression. Furthermore, ten rats with matched body mass were taken as the depressive group and 10 were taken as control group. As for the depressive group rats, chronic unpredictable mild stress stimulation combined with orphanage was adopted to establish a model of depression.The depressive behaviors of rats were evaluated by body mass, sucrose preference test and open field test. Immunohistochemical staining and Western blot were used to detect the expression of SYN, PSD95 and GAP43 proteins in rat hippocampal tissue. SPSS 17.0 software was used for data statistical analysis, repeated measurement ANOVA was used for behavioral results, one-way ANOVA was used for inter group comparison of protein expression data, and LSD test was used for further pairwise comparison.Results:As for the body mass, there was significant interaction effect between the time and group among the 4 groups ( F=7.33, P<0.01). On the 8th day and the 29th day, the body weight of rats in the EWD group and the depressive group were lower than those in the epilepsy group (all P<0.05). The body weight of rats in the EWD group on the 29th day was lower than that on the first day ( P<0.05). As for the sucrose preference rates, there was significant interaction effect between the time and group among the 4 groups( F=2.67, P<0.05). The sucrose preference rate of EWD group on the15th and 29th day were lower than that on the first day (both P<0.05). The results of the open field test showed that the interaction effects of the number of vertical standing times( F=2.74) and the number of horizontal movement lattices ( F=1.76) both were not significant (both P>0.05), but both the time effect and group effect were significant (vertical standing times: Ftime=4.35, P<0.05, Fgroup=25.64, P<0.01; horizontal movement lattices: Ftime=12.75, P<0.01, Fgroup=21.37, P<0.01). The immunohistochemical results showed that there was a statistically significant difference in the number of positive cells expressing synaptic proteins SYN, PSD95 and GAP43 among the four groups of rats ( F=93.85, 58.66, 98.84, all P<0.05). The numbers of positive cells of SYN (11.73±4.30), PSD95 (24.47±7.58) and GAP43 (9.40±3.50) in the epilepsy group were lower than those in the control group ((51.00±15.39), (55.60±13.17) and (29.53±4.05)) (all P<0.05). The numbers of positive cells of SYN (5.80±3.53), PSD95 (12.87±4.03) and GAP43 (5.33±3.50) in the EWD group were lower than those in the depressive group ((11.33±3.22), (48.13±12.69) and (15.47±5.21) )(all P<0.05). Western blot results showed that there were statistically significant differences in the expression of synaptic proteins SYN, PSD95 and GAP43 among the four groups of rats ( F=13.19, 9.38, 16.80, all P<0.05). The expression levels of SYN, PSD95 and GAP43 in the epilepsy group were lower than those in the control group (all P<0.05). The expression levels of SYN, PSD95 and GAP43 in the EWD group were lower than those in the epilepsy group and the depressive group (all P<0.05). Conclusion:The low expression of SYN, PSD95 and GAP43 proteins in the hippocampus of rats with epilepsy accompanied by depression may be related to their pathogenesis.
摘要
Objective To systematically evaluate the efficacy and safety of the combination therapy of sodium valproate and edaravone in the treatment of post-stroke epilepsy(PSE).Methods The Cochrane Library,PubMed,Embase,Web of Science,CNKI,Wanfang database,and VIP databases were searched from the time of inception to May 2023.Randomized controlled trials of edaravone plus valproate versus valproate monotherapy for epilepsy were collected,the risk of bias of the included studies was assessed using the RoB 2 tool,and Meta-analyses were performed using RevMan 5.4 software.Results 13 studies with a total of 1 092 patients were included.The results showed that the response rate was significantly higher in the combination group than in the sodium valproate group[RR=0.18,95％CI(0.13 to 0.22),P＜0.01].The incidence of adverse reactions was lower[RR=0.73,95％CI(0.48 to 1.13),P=0.16].The seizure frequency[MD=-0.30,95％CI(-0.43,-0.11),P＜0.01]and duration of seizures[MD=-0.81,95％CI(-0.89,-0.72),P＜0.01]in the combined treatment group were significantly lower than those in the sodium valproate group.The inflammatory factors tumor necrosis factor-α[MD=-8.00,95％CI(-9.15,-6.84),P＜0.01],interleukin-2[MD=-10.19,95％CI(-14.61,-5.78),P＜0.01],interleukin-8[MD=-5.6,95％CI(-6.48,-4.73),P＜0.01]were significantly lower than those in the sodium valproate group.The neuron-specific enolase(NSE)level in patients with epilepsy in the combination treatment group was significantly better than that of the sodium valproate group at 1 month[MD=-4.73,95％CI(-4.99,-4.46),P＜0.01],3 months[MD=-2.10,95％CI(-3.26,-0.95),P＜0.01],and 6 months after treatment[MD=-1.31,95％CI(-2.35,-0.27),P＜0.01].There was no significant difference in NSE levels[MD=0.06,95％CI(-0.07,0.19),P=0.34]after 12 months.Conclusion Edaravone combined with sodium valproate in the treatment of post-stroke epilepsy can improve the epilepsy control rate of patients,shorten the frequency and duration of seizures,reduce the level of inflammatory factors in patients,promote the reduction of NSE levels,and improve their quality of life,which has a certain safety.
摘要
Currently,electroencephalogram(EEG),functional near-infrared spectroscopy(fNIRS),and functional magnetic resonance imaging have been widely studied and applied to neuropsychiatric disorders.In recent years,the devices which can realize the simultaneous acquisition of EEG and fNIRS has been developed and gradually applied in the studies on neuropsychiatric disorders.The review provides an introduction of the techniques of synchronized detection and data analysis for EEG-fNIRS,summarizes the analysis methods and new findings of the recent studies of stroke,epilepsy,and other neuropsychiatric disorders using EEG-fNIRS,and also discusses the future research directions.
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Objective To observe18F-FDG PET/MRI manifestations of gray matter heterotopia(GMH)related epilepsy.Methods Data of 27 patients with GMH and epilepsy diagnosed with MRI were retrospectively analyzed.Brain 18 F-FDG PET/MRI manifestations and complicated brain malformations were observed,and the classification of GMH were performed.Results Among 27 cases,periventricular GMH,focal subcortical GMH,subcortical lamellar(band)GMH and mixed GMH were detected each in 15,2,2 and 8 cases,respectively.Compared with cerebral white matter around the lesion or in the contralateral mirror area of the lesion,glucose hypermetabolism and glucose hypometabolism were found in 22 and 3 cases,respectively,while glucose metabolism was normal in 2 cases.Compared with gray matter in precentral gyrus,glucose hypermetabolism and glucose hypometabolism were observed in 8 and 16 cases,respectively,while glucose metabolism was normal in 3 cases.Six cases complicated with cerebral fissure deformity,6 cases with bilateral cerebellar hemispheric volume reduction,1 case with absence of pellucid septum and lower fornix,1 case with dysplasia of corpus callosum and 1 case with polymicrogyria.Conclusion 18 F-FDG PET/MRI manifestations of GMH related epilepsy had certain characteristics,which were helpful for clinical diagnosis.
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Purpose To evaluate the consistency and repeatability of cerebral blood flow(CBF)values measured by automatic segmentation of region of interest(ROI)and arterial spin labeling(ASL)functional image fusion in hippocampal sclerosis patients with medial temporal lobe epilepsy.Materials and Methods From January 2021 to October 2022,a total of 52 patients with medial temporal lobe epilepsy confirmed by MRI or pathology in General Hospital of Ningxia Medical University were retrospectively collected.All subjects were scanned on 3.0T MRI to obtain axial T1 weighted three-dimensional magnetization reserve gradient echo(3D-T1W1-MPGAGE)sequence and three-dimensional pseudo continuous ASL sequence.The 3D-T1W1-MPGAGE imaging were automatically segmented.Two physicians used the freeview visualization interface of freeSurfer software to fuse the ROI and ASL functional images of the hippocampal subregions and to measure the CBF values.The intra-observer and inter-observer consistency and repeatability were evaluated and analyzed.The consistency analysis and repeatability evaluation were performed via intraclass correlation coefficient(ICC),Bland-Altman diagram and Wilcoxon rank sum test.Results The ICC of CBF values measured by two physicians were all>0.750,with an average of 0.868±0.095.The ICC of left and right hippocampal subregions were as follows:subiculum(SUB):0.818/0.801,cornu ammonis(CA)1:0.920/0.907,CA2-3:0.759/0.978,CA4:0.757/0.758 and dentate gyrus(DG):0.990/0.991;The ICC delineated by the same physician's ROI were all>0.990 with an average of 0.994±0.002.The ICC of left and right hippocampal subregions were as follows:SUB:0.993/0.993,CA1:0.996/0.995,CA2-3:0.989/0.994,CA4:0.992/0.995 and DG:0.993/0.996.The Bland-Altman diagram showed the scatter distribution and consistency,and the coefficient of repeatability was obtained.The same observer had certain repeatability for the fusion measurement of automatic segmentation ROI and ASL functional images.Conclusion The CBF values measured by fusing ROI and ASL functional images of automatically segmented hippocampal subregion have higher consistency and repeatability.
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Objective:To explore the clinical characteristics of patients with antibodies against contactin-associated protein-like 2 (CASPR2).Methods:The clinical data of 24 patients with anti-CASPR2 encephalitis diagnosed at the First Affiliated Hospital of Zhengzhou University from January 2018 to December 2022 were retrospectively analyzed. According to the age of first onset, the patients were divided into early onset group (10 cases, onset age<45 years) and late onset group (14 cases, onset age≥45 years). The clinical data including clinical manifestations, auxiliary examinations, and treatment response between these 2 groups were compared.Results:Among the 24 patients, there were 13 cases with epilepsy, 13 cases with cognitive decline, 13 cases with mental disorders, 14 cases with autonomic dysfunction, 8 cases with peripheral nerve hyperexcitability, 5 cases with Morvan syndrome, 5 cases with unstable walking, and 8 cases with sleep disorders. Among the 10 cases of the early onset group, 7 cases are females, and 8 cases showed epilepsy. The incidence rate of epilepsy in the early onset group was higher than that in the late onset group (5/14, Fisher exact probability, P=0.047). Among the 14 cases of the late onset group, 6 cases are females, 9 cases showed cognitive impairment and 8 cases presented with mental disorders. There were 6 cases with abnormal brain magnetic resonance imaging (MRI). The cerebrospinal fluid protein of the late onset group [0.37 (0.29, 0.58) g/L] was higher than that in the early onset group [0.22 (0.16, 0.30) g/L; Z=-2.667, P=0.008]. The modified Rankin Scale (mRS) scores before and after treatment were 3.29±0.83 and 1.50 (0.75, 2.25), which were higher than those in the early onset group [mRS scores before and after treatment were 2.10±0.99 and 0 (0, 1.00), t=-3.188, P=0.004; Z=-2.335, P=0.020]. Conclusions:There are various symptoms in patients with anti-CASPR2 encephalitis. The early onset patients are common in women, with a higher incidence of epilepsy. The late onset patients are common in males, with prominent manifestations of cognitive impairment and mental disorders, which have a greater impact on daily living abilities. And abnormal MRI findings are common, and the cerebrospinal fluid protein is higher in late onset patients. Anti-CASPR2 antibody may cause more severe immune damage to the nervous system in elderly patients.
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Objective:To investigate the clinical phenotype and genetic variation of Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS), and to enhance clinicians′ knowledge of the disease.Methods:The clinical data of a child with BVSYS admitted to the Department of Neurological Rehabilitation, Qingdao Women and Children′s Hospital Affiliated to Qingdao University in February 2023 were collected. Whole genome sequencing was used to analyze the pathogenic genes of the child, and Sanger sequencing was used to verify the suspected mutation sites of the family members. The clinical phenotype and genetic variation characteristics were analyzed, and the clinical characteristics of BVSYS were summarized in combination with relevant literature.Results:The patient, a female aged 3 years and 1 month, presented with global developmental delay, speech disorder, distinctive facial features, esotropia, epilepsy, hypotonia and atrial septal defect. Brain magnetic resonance imaging revealed bilateral ventriculomegaly with abnormal signal intensity in the posterior bodies of both lateral ventricles and thinning of the corpus callosum. The whole genome sequencing revealed a homozygous missense mutation c.518 (exon5) T>C (p.IIe173Thr) in the MED25 gene of the child, and Sanger sequencing confirmed that her parents and elder brother carried the aforementioned heterozygous mutation, which was classified as a likely pathogenic mutation according to the guidelines of the American College of Medical Genetics and Genomics. A total of 22 cases from 6 literature sources were retrieved, with no reported cases in China so far. Conclusions:BVSYS is clinically rare. For patients presenting with unexplained global developmental delay or intellectual disability combined with craniofacial, neurological, cardiac, and eye abnormalities, targeted genetic testing can facilitate a definite diagnosis.
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Epilepsy arising from autoimmune etiologies has become increasingly prevalent in clinical practice. These cases typically exhibit limited responsiveness to conventional antiepileptic drugs, often progressing into drug-resistant epilepsy. Consequently, the early identification of autoimmune causes of epilepsy and the subsequent implementation of targeted immunotherapy are of paramount significance for clinicians. Presently, the pathogenesis of autoimmune epilepsy remains elusive, and standardized diagnostic and therapeutic guidelines are lacking. It is imperative that future endeavors involve extensive large-scale foundational research and clinical trials to delve deeper into the autoimmune mechanisms underpinning epilepsy.
摘要
Objective:To summarize the clinical and neurophysiological characteristics of epilepsy with blink inducing.Methods:The patients with epilepsy with blink test positive who received 24 h-video-electroencephalography (24 h-VEEG) monitoring from May 2017 to May 2022 in the Xijing Hospital, the Air Force Military Medical University were enrolled. Their clinical and electrophysiological characteristics were studied and they were followed up to observe their prognosis.Results:A total of 42 patients with epilepsy with blink test positive were collected, 1 of whom was lost to follow-up. The remaining 41 patients included 18 males (44%) and 23 females (56%), whose age was 3 to 12 (8.1±2.6) years. Self-limited epilepsy with centrotemporal spikes (SeLECTS) was diagnosed in 35 patients, self-limited epilepsy with autonomic seizures in 3, and developmental epileptic encephalopathy with spike-and-wave activation in sleep in 3, respectively. The electrical status epilepticus during sleep (ESES) was found in 31 patients (76%), whereas 10 (24%) without ESES. Thirty-two patients experienced 24 h-VEEG monitoring more than twice, and 23 of them were seizure free, of whom blink inducing disappeared in 14 patients and existed in 9 in the last 24 h-VEEG monitoring. Among the 9 patients who were not seizure free, blink inducing disappeared in 3 patients and remained in 6. There was no statistically significant difference between the two groups ( P>0.05). The age of the patients whose blink inducing disappeared in the last 24 h-VEEG monitoring after treatment was (11.3±3.1) years. Meanwhile the age of the patients whose blink inducing remained was (9.1±2.3) years, and the difference between the two groups was statistically significant ( t=2.254, P=0.030). Conclusions:Blink inducing is highly age-dependent and common in self-limited focal epilepsy and developmental epileptic encephalopathy, especially in SeLECTS. Moreover, patients with ESES are more likely to be blink test positive. There was no correlation between blink inducing and seizure outcome.