Seizure

癫痫发作
  • 文章类型: Journal Article
    癫痫是癫痫发作的持续倾向,可导致各种神经生物学疾病,过早死亡的风险升高。本研究评估布立西坦辅助治疗癫痫患者的疗效。
    一项前瞻性观察性多中心研究,于2022年3月至9月在巴基斯坦进行,采用非概率便利抽样技术。该人群由543名诊断为癫痫的人组成,其中有辅助brivacetam(Brivera;由HelixPharmaPvtLtd.制造,信德省,巴基斯坦)是主治医生推荐的。研究样本来自卡拉奇的各个私人神经科诊所,拉合尔,拉瓦尔品第,伊斯兰堡和白沙瓦。来自常规患者就诊的数据,在三个研究时间点进行评估,记录在研究案例报告表中。
    在18个临床地点,543人参加,平均年龄32.9岁.最常用的剂量是50毫克BD,其次是100mgBD。值得注意的是,布立西坦联合双丙戊酸钠是最普遍的治疗方法,其次是brivaracetam与左乙拉西坦。在第14天和第90天的评估中,观察到癫痫发作频率显着降低,到第90天,63.1%的人表现出良好的反应。与治疗抵抗的个体相比,未接受治疗的个体表现出更高的癫痫发作自由和反应率。
    该研究证明了布立西坦联合治疗在癫痫治疗中的有效性,癫痫发作频率显着降低,临床反应良好,特别是在治疗幼稚的个体中。
    UNASSIGNED: Epilepsy is a persistent tendency to experience epileptic seizures and can lead to various neurobiological disorders, with an elevated risk of premature mortality. This study evaluates the efficacy of brivaracetam adjuvant therapy in patients with epilepsy.
    UNASSIGNED: A prospective observational multicentre study that was conducted in Pakistan from March to September 2022, by using a non-probability convenience sampling technique. The population consisted of 543 individuals with a diagnosis of epilepsy for whom adjunctive brivaracetam (Brivera; manufactured by Helix Pharma Pvt Ltd., Sindh, Pakistan) was recommended by the treating physician. The research sample was drawn from various private neurology clinics of Karachi, Lahore, Rawalpindi, Islamabad and Peshawar. Data originating from routine patient visits, and assessments at three study time points, were recorded in the study case report form.
    UNASSIGNED: Across 18 clinical sites, 543 individuals participated, with a mean age of 32.9 years. The most prescribed dosages were 50 mg BD, followed by 100 mg BD. Notably, brivaracetam combined with divalproex sodium was the most prevalent treatment, followed by brivaracetam with levetiracetam. At both the 14th and 90th day assessments, a significant reduction in seizure frequency was observed, with 63.1% of individuals showing a favourable response by day 90. Treatment-naive individuals exhibited higher rates of seizure freedom and response compared with treatment-resistant individuals.
    UNASSIGNED: The study demonstrates the effectiveness of brivaracetam combination therapy in epilepsy management, with notable reductions in seizure frequency and favourable clinical responses observed, particularly in treatment-naive individuals.
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  • 文章类型: Journal Article
    目的:癫痫需要多个医疗保健专家的持续医疗护理,专业设施,和社区护理。在西班牙,没有标准化的癫痫治疗方法。这项研究的目的是通过探索通过西班牙国家医疗保健系统(NHS)的患者旅程中的关键步骤和障碍,来确定影响提供高质量护理的因素。
    方法:使用神经学家的意见和经验进行了定性研究,护士,病人,和护理人员在讨论会议上分享。使用主题内容分析,相关的以目标为重点的陈述是根据讨论图中的预定问题编码的(即,关键步骤和障碍),并根据新出现的问题进行子编码。评估了主题饱和度和关键步骤/障碍的共同出现,以确定影响高质量护理交付的最相关因素。
    结果:65名利益相关者参加了讨论会议(36名神经科医生,10名护士,10名患者,和9名护理人员)。确定了患者旅程的六个关键步骤:紧急护理,诊断,药物治疗,后续行动,转介,和介入治疗。其中,随访是影响高质量患者护理交付的最相关步骤,其次是药物治疗和诊断。急诊护理被认为是一个热点步骤,在整个患者旅程中都会产生影响。沟通(HCP之间以及HCP与患者之间)是在患者旅程的几个阶段提供高质量护理的障碍,包括药物治疗,后续行动,转介,和介入治疗。资源可用性是诊断(特别是确认)的障碍,药物治疗(药物可用性),和转诊(缺乏专业人员和专业中心,和长长的等待名单)。
    结论:这是第一项研究,捕获了西班牙四个参与癫痫治疗的关键利益相关者的观点。我们提供了通过西班牙NHS的患者旅程的概述,并强调了从慢性角度改善以患者为中心的护理交付的机会。
    结论:癫痫患者可能需要长期的医疗护理。在西班牙,护理由一系列专科和非专科中心提供。在这项研究中,一组西班牙神经学家,护士,患者和护理人员确定了影响癫痫患者在西班牙NHS旅程的每个阶段提供高质量护理的障碍.针对医疗保健提供者的特定癫痫培训,诊断和治疗患者的适当资源,医护人员和患者之间的良好沟通被认为是为癫痫患者提供高质量护理的重要因素.
    OBJECTIVE: Epilepsy requires continuous medical attention from multiple healthcare specialists, specialized facilities, and community-based care. In Spain, there is no standardized approach to epilepsy care. The aim of this study was to identify the factors impacting on the delivery of high-quality care by exploring key steps and barriers along the patient journey through the Spanish National Healthcare System (NHS).
    METHODS: A qualitative study was conducted using opinions and experiences of neurologists, nurses, patients, and caregivers shared in discussion meetings. Using thematic content analyses, relevant aim-focused statements were coded according to prespecified issues in a discussion map (i.e., key steps and barriers), and sub-coded according to emerging issues. Thematic saturation and co-occurrence of key steps/barriers were evaluated to identify the most relevant factors impacting on the delivery of high-quality care.
    RESULTS: Sixty-five stakeholders took part in discussion meetings (36 neurologists, 10 nurses, 10 patients, and nine caregivers). Six key steps on the patient journey were identified: emergency care, diagnosis, drug therapy, follow-up, referral, and interventional treatment. Of these, follow-up was the most relevant step impacting on the delivery of high-quality patient care, followed by drug therapy and diagnosis. Emergency care was considered a hot-spot step with impact throughout the patient journey. Communication (among HCPs and between HCPs and patients) was a barrier to the delivery of high-quality care at several stages of the patient journey, including drug therapy, follow-up, referral, and interventional treatment. Resource availability was a barrier for diagnosis (especially for confirmation), drug therapy (drug availability), and referral (lack of professionals and specialized centers, and long waiting lists).
    CONCLUSIONS: This is the first study capturing perspectives of four key stakeholders involved in epilepsy care in Spain. We provide an overview of the patient journey through the Spanish NHS and highlight opportunities to improve the delivery of patient-centered care with a chronicity perspective.
    CONCLUSIONS: Patients with epilepsy may require prolonged medical care. In Spain, care is provided by a range of specialist and non-specialist centers. In this study, a team of Spanish neurologists, nurses, patients and caregivers identified barriers that affect the delivery of high-quality care for patients with epilepsy at each stage of their journey through the Spanish NHS. Specific epilepsy training for healthcare providers, appropriate resources for diagnosing and treating patients, and good communication between healthcare workers and patients were identified as important factors in providing high-quality care for patients with epilepsy.
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  • 文章类型: Journal Article
    阿片受体mu1是一种蛋白质编码基因,可以具有不同的蛋白质编码,并且可能具有影响阿片类药物工作方式的变异(多态性)。这项研究的目的是调查最常见的阿片受体mu1多态性(A118G)的患病率,以及该多态性与曲马多过量后特征之间的任何关系。
    这是一项针对伊朗一家医院收治的曲马多中毒患者的横断面研究。这些患者没有服用任何其他药物或药物,也没有癫痫发作史。
    结果显示,在纳入研究的83名患者中,57人(69%)为AA基因型,25(30%)具有AG基因型,1人(1%)具有阿片受体mu1A118G多态性的GG基因型。9名(11%)患者出现恶心和/或呕吐,38名(46%)患者出现头晕。严重不良事件包括51例(60%)患者癫痫发作和21例(25%)患者需要机械通气的呼吸衰竭。然而,阿片受体mu1A118G多态性与这些不良事件之间没有显著关联.
    在我们的研究中,A等位基因的频率大于G等位基因,AA基因型比AG基因型更普遍。在阿片受体mu1rs1799971的多态性中,GG基因型是最不常见的。曲马多中毒患者的阿片受体mu1A118G多态性与症状之间没有显着关联。尽管这些等位基因比例与其他高加索人群报道的结果相似,它们与中国和新加坡人群的发现不同。在这些亚洲研究中,主要等位基因是G等位基因。有人提出,突变的G等位基因将减少阿片受体mu1相关的信使核糖核酸和相关蛋白的产生,导致大脑中μ阿片受体减少。
    这项研究发现曲马多中毒患者的阿片受体mu1A118G多态性与不良结局之间没有显著关联。然而,由于不同人群中阿片受体mu1多态性的证据有限和变异性,需要更多的研究来得出更明确的结论.
    UNASSIGNED: The opioid receptor mu1 is a protein coding gene that can have different codes for a protein and may have variations (polymorphisms) affecting how opioids work. The aim of this study was to investigate the prevalence of the most common opioid receptor mu1 polymorphism (A118G) and any relationship between this polymorphism and features following tramadol overdose.
    UNASSIGNED: This was a cross-sectional study of patients admitted with tramadol poisoning to an Iranian hospital. These patients were not taking any other drugs or medications and had no history of seizures.
    UNASSIGNED: The results showed that among the 83 patients included in the study, 57 (69 per cent) had the AA genotype, 25 (30 per cent) had the AG genotype, and one (1 per cent) had the GG genotype for the opioid receptor mu1 A118G polymorphism. Nausea and/or vomiting occurred in nine (11 per cent) patients and dizziness in 38 (46 per cent) patients. Serious adverse events included seizures in 51 (60 per cent) patients and respiratory failure requiring mechanical ventilation in 21 (25 per cent) patients. However, there was no significant association between the opioid receptor mu1 A118G polymorphism and these adverse events.
    UNASSIGNED: In our study, the frequency of the A allele was greater than the G allele, and the AA genotype was more prevalent than AG. The GG genotype was the least common among the polymorphisms of opioid receptor mu1 rs1799971. There was no significant association between the opioid receptor mu1 A118G polymorphism and symptoms in tramadol-poisoned patients. Although these allele proportions are similar to the results reported in other Caucasian populations, they are dissimilar to the findings in Chinese and Singaporean populations. In these Asian studies, the predominant allele was the G allele. It has been suggested that a mutated G allele will decrease the production of opioid receptor mu1-related messenger ribonucleic acid and related proteins, leading to fewer mu-opioid receptors in the brain.
    UNASSIGNED: This study found no significant association between the opioid receptor mu1 A118G polymorphism and adverse outcomes in tramadol-poisoned patients. However, more research is needed to draw more definitive conclusions due to the limited evidence and variability of opioid receptor mu1 polymorphisms in different populations.
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  • 文章类型: Journal Article
    癫痫发作是2019年冠状病毒病(COVID-19)感染的神经系统表现之一。很少有研究关注COVID-19和癫痫的住院患者的预后。
    这是根据全国范围内的癫痫患者的亚组分析,多中心,菲律宾37家医院收治的COVID-19患者的回顾性研究。
    共纳入10,881例COVID-19感染患者。其中,27例(0.2%)患者有预先存在的癫痫发作/癫痫发作,125例(1.1%)有新发作的癫痫发作。先前存在癫痫发作/癫痫的患者平均年龄为49岁,大多数为男性(63.0%)。新发癫痫患者的平均年龄为57岁,大多数为男性(60.5%)。在预先存在癫痫发作/癫痫的患者中,重症/重症COVID-19的比例没有显着差异(p=0.131),全因死亡率(p=0.177),完全/部分神经系统恢复(p=0.190),呼吸机使用(p=0.106),重症监护病房住院时间(p=0.276),住院时间(p=0.591)。新发癫痫患者发生严重/危重型COVID-19感染的可能性是其2.65倍(p<0.001),死亡的可能性增加3.12倍(p<0.001),与没有新发癫痫的患者相比,需要呼吸机的可能性要高3.51倍(p<0.001)。新发癫痫,然而,与完全/部分神经系统恢复(p=0.184)和住院时间延长(p=0.050)无显著相关.
    严重/危重型COVID-19感染,死亡率更高,在新发作的癫痫发作患者中,呼吸机的使用率明显较高,但在已有癫痫发作/癫痫发作的患者中没有.
    UNASSIGNED: Seizure is one of the neurologic manifestations of coronavirus disease 2019 (COVID-19) infection. There are few studies focused on the outcome of hospitalized patients with COVID-19 and seizure.
    UNASSIGNED: This was a subgroup analysis of patients with seizure based on a nationwide, multicenter, retrospective study of COVID-19 patients admitted in 37 hospitals in the Philippines.
    UNASSIGNED: A total of 10,881 patients with COVID-19 infection were included. Among these, 27 (0.2 %) patients had pre-existing seizure/epilepsy and 125 (1.1 %) had new-onset seizure. The patients with pre-existing seizure/epilepsy had a mean age of 49 years and majority were males (63.0 %). The patients with new-onset seizure had a mean age of 57 years and majority were males (60.5 %). Among patients with pre-existing seizure/epilepsy, there were no significant differences in the proportion of severe/critical COVID-19 (p = 0.131), all-cause mortality (p = 0.177), full/partial neurologic recovery (p = 0.190), ventilator use (p = 0.106), length of intensive care unit stay (p = 0.276), and length of hospitalization (p = 0.591). Patients with new-onset seizure were 2.65 times more likely to have severe/critical COVID-19 infection (p < 0.001), 3.12 times more likely to die (p < 0.001), and 3.51 times more likely to require a ventilator (p < 0.001) than those without new-onset seizure. New-onset seizure, however, was not significantly associated with full/partial neurologic recovery (p = 0.184) and prolonged length of hospitalization (p = 0.050).
    UNASSIGNED: Severe/critical COVID-19 infection, higher mortality rate, and use of a ventilator were significantly higher among patients with new-onset seizure but not among patients with pre-existing seizure/epilepsy.
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  • 文章类型: Journal Article
    新生儿癫痫发作是一种常见的医疗紧急情况,表示对新生儿大脑的严重伤害。它是新生儿发病和死亡的主要危险因素。它有一个广泛的世界范围内的变化,从美利坚合众国每1000名活产5人到肯尼亚每1000名活产39.5人不等。为了减少这个重要的数字,最好进一步调查其原因。因此,这项研究旨在评估其决定因素,因为在研究区域的背景下没有相关证据.
    旨在评估Awi地区医院新生儿重症监护病房收治的新生儿中新生儿癫痫发作的决定因素,2023年。
    从2023年1月1日至2023年5月30日,对531名符合条件的新生儿进行了一项基于机构的无匹配病例对照研究。采用预先测试的工具来收集数据。收集的数据被编码,编辑,并输入Epi-data版本3.1,然后导出到SPSS26。使用卡方和比值比评估与新生儿癫痫发作相关的因素之间的关系。Hosmer和Lemeshow测试了模型的拟合优度。双变量和多变量分析分别在P<0.25和P<0.05时显示与新生儿癫痫发作的显著关联为95%。
    在最终分析模型中使用了总共506例(130例和376例对照)的入院新生儿。新生儿出生后24小时内入院[AOR;5.98(95%,CI:2.18-16.43)],胎龄<32周[AOR;2.89(95%,CI:1.29-6.53)],体温>37.5°C[AOR;4.82(95%,CI:1.82-12.76)],血糖水平<40克/分升[AOR;4.95(95%,CI:2.06,11.88)],新生儿败血症[AOR;2.79(95%,CI:1.46-5.35)]和围产期窒息[AOR;8.25(95%,CI:4.23,16.12)]被发现是新生儿癫痫发作的决定因素。
    和建议:在这项研究中,新生儿癫痫发作由新生儿年龄因素决定,胎龄<32周,体温>37.5°C,血糖水平<40克/分升,新生儿败血症,围产期窒息.因此,这些因素的存在需要及时的认识和治疗。
    UNASSIGNED: Neonatal seizure is a common medical emergency that signals severe insult to the neonatal brain. It is a major risk factor for neonatal morbidity and mortality. It has a wide worldwide variation, ranging from 5 per 1000 live births in the United States of America to 39.5 per 1000 live births in Kenya. To decrease this significant figure, it is better to investigate its causes further. Therefore, this study aimed to assess its determinants since there was no prior evidence about it in the context of study area.
    UNASSIGNED: Aim to assess the determinants of neonatal seizures among neonates admitted to neonatal intensive care units in the Awi Zone Hospitals, 2023.
    UNASSIGNED: An institution based unmatched case-control study was conducted on 531 admitted eligible neonates from January 1, 2023, to May 30, 2023. A pretested tool was employed to collect data. The collected data were coded, edited, and entered into Epi-data version 3.1 and then exported to SPSS 26. Chi-square and odds ratios were used to assess the relationship between factors associated with the occurrence of neonatal seizure. Model goodness of fit was tested by Hosmer and Lemeshow. Bivariate and multivariate analysis was declared at P < 0.25 and P < 0.05 respectively to show a significant association with neonatal seizure at a 95 % level of significance.
    UNASSIGNED: A total of 506 (130 cases and 376 controls) of admitted neonates were used in the final analysis model. Neonates admitted within 24 h of birth [AOR; 5.98 (95 %, CI: 2.18-16.43)], gestational age <32 weeks [AOR; 2.89 (95 %, CI: 1.29-6.53)], body temperature >37.5 °C [AOR; 4.82 (95 %, CI: 1.82-12.76)], blood glucose level <40 g/dl [AOR; 4.95 (95 %, CI: 2.06,11.88)], neonatal sepsis [AOR; 2.79 (95 %, CI: 1.46-5.35)] and perinatal asphyxia [AOR; 8.25 (95 %, CI: 4.23, 16.12)] were found to be determinants of neonatal seizure.
    UNASSIGNED: and recommendations: In this study, neonatal seizure was determined by the factors of neonatal age, gestational age<32 weeks, body temperature >37.5 °C, blood glucose level <40 g/dl, neonatal sepsis, and perinatal asphyxia. Therefore, the presence of such factors requires prompt recognition and treatment.
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  • 文章类型: Journal Article
    背景:振幅整合脑电图(aEEG)的特征与新生儿缺氧缺血性脑病(HIE)的神经系统预后相关。我们对治疗性低温期间aEEG的连续监测进行纵向分析,并探讨aEEG解释与临床神经系统结局之间的关联。方法我们在aEEG监测下对接受低温治疗的HIE新生儿进行了前瞻性队列研究。结果37例HIE患儿中28例(75.7%)进行了低体温和aEEG背景活动改善,其中18名(48.6%)新生儿背景活动恢复到连续模式,中位恢复时间为26.5小时。14例(37.8%)出现睡眠-觉醒周期(SWC),中位起效时间为34.5小时。26例(70.3%)婴儿的aEEG癫痫发作活动。与放电不良结果相关的因素包括低电压或平坦迹线背景活动,低温后背景活动缺乏改善,没有SWC。在低温结束之前需要超过62小时才能恢复到连续背景活动(达到正常追踪的时间)或没有SWC的新生儿在出院时更有可能出现不利结果。结论新生儿监护病房应在低体温期间实施aEEG的纵向分析。aEEG上这些特征的进展可以预测HIE新生儿的神经系统结局。
    Background The characteristics of amplitude-integrated electroencephalography (aEEG) are associated with neurological outcomes in neonates with hypoxic-ischemic encephalopathy (HIE). We perform a longitudinal analysis of continuous monitoring of aEEG during therapeutic hypothermia and explore the association between aEEG interpretation and clinical neurological outcomes. Method We conducted a prospective cohort study on HIE neonates undergoing hypothermia with aEEG monitoring. Results A total of 37 HIE infants underwent hypothermia with improved aEEG background activity in 28 (75.7%) neonates, of which 18 (48.6%) neonates had background activity returned to a continuous pattern, and the median recovery time was 26.5 hours. Sleep-wake cycle (SWC) appeared in 14 (37.8%) cases, with a median onset time of 34.5 hours. Seizure activity on aEEG was present in 26 (70.3%) infants. Factors associated with poor outcomes at discharge included low voltage or flat trace background activity, a lack of improvement in background activity after hypothermia, and the absence of SWC. Neonates who took longer than 62 hours to return to continuous background activity (time to normal trace) or did not have SWC before the end of hypothermia were more likely to have unfavorable outcomes at discharge. Conclusions Longitudinal analysis of aEEG during hypothermia should be implemented in neonatal care units. The progression of these features on aEEG may predict neurological outcomes for HIE neonates.
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  • 文章类型: Journal Article
    背景:目前尚无治疗难治性癫痫持续状态(RSE)的首选药物,静脉注射氯胺酮越来越多。氯胺酮疗效,安全,剂量,以及其他变量对氯胺酮输注时癫痫发作停止的影响没有得到很好的研究。我们旨在表征氯胺酮对RSE的影响,包括脑电图(EEG)和Teleneurocriticalcare(TNCC)进行的发作间活动。
    方法:我们进行了多中心,2017年8月至2022年10月的回顾性研究。包括患有RSE并接受氯胺酮的18岁或以上的患者。主要结果是氯胺酮对RSE的影响,包括间期活动;次要结果是其他变量对RSE的影响,由TNCC护理,氯胺酮输注动力学,不良事件,和出院结果。采用Logistic回归。
    结果:来自五家医院的51名患者符合纳入标准;30名患者在脑电图上有RSE和发作间活动。中位年龄为56.8岁(IQR18.2),26%的人以前诊断过癫痫。16例(31%)患者接受了TNCC治疗。在脑电图上有RSE的人中,添加氯胺酮作为第四种抗癫痫药物(平均4.4,SD1.6).最初在24%的患者中使用氯胺酮推注(95毫克,IQR47.5),中位输注速率为30.8mcg/kg/min(IQR40.4),中位输注时间为40h(IQR37)。84%的患者在24小时内,氯胺酮与50%的RSE停止和发作间活动有关,43%的患者完全停止癫痫发作。在线性回归中,氯胺酮之前的ASM与癫痫发作停止相关(OR2.6,95%CI0.9-6.9,p=0.05),而异丙酚输注的情况相反(OR0.02,95%CI0.001-0.43,p=0.01)。由人NCC进行的RSE管理与由TNCC进行的虚拟管理没有影响癫痫发作停止率。
    结论:氯胺酮输注治疗RSE与24h时癫痫发作负担降低相关,84%的患者癫痫发作减少了50%。无论潜在的RSE病因或通过TNCC与人体内NCC进行时,都观察到相似的疗效和安全性。
    BACKGROUND: There is not a preferred medication for treating refractory status epilepticus (RSE) and intravenous ketamine is increasingly used. Ketamine efficacy, safety, dosage, and influence of other variables on seizure cessation while on ketamine infusions are not well studied. We aimed to characterize ketamine effect on RSE, including interictal activity on electroencephalogram (EEG) and when done by Teleneurocritical care (TNCC).
    METHODS: We conducted a multicenter, retrospective study from August 2017 to October 2022. Patients 18 years or older who had RSE and received ketamine were included. The primary outcome was effect of ketamine on RSE including interictal activity; secondary outcomes were effect of other variables on RSE, care by TNCC, ketamine infusion dynamics, adverse events, and discharge outcomes. Logistic regression was used.
    RESULTS: Fifty-one patients from five hospitals met inclusion criteria; 30 patients had RSE and interictal activity on EEG. Median age was 56.8 years (IQR 18.2) and 26% had previously diagnosed epilepsy. Sixteen (31%) patients were treated virtually by TNCC. In those with RSE on EEG, ketamine was added as the fourth antiseizure medication (mean 4.4, SD 1.6). An initial bolus of ketamine was used in 24% of patients (95 mg, IQR 47.5), the median infusion rate was 30.8 mcg/kg/min (IQR 40.4), and median infusion duration was 40 h (IQR 37). Ketamine was associated with 50% cessation of RSE and interictal activity at 24 h in 84% of patients, and complete seizure cessation in 43% of patients. In linear regression, ASMs prior to ketamine were associated with seizure cessation (OR 2.6, 95% CI 0.9-6.9, p = 0.05), while the inverse was seen with propofol infusions (OR 0.02, 95% CI 0.001-0.43, p = 0.01). RSE management by in-person NCC versus virtual by TNCC did not affect rates of seizure cessation.
    CONCLUSIONS: Ketamine infusions for RSE were associated with reduced seizure burden at 24 h, with 84% of patients having 50% seizure reduction. Similar efficacy and safety was observed irrespective of underlying RSE etiology or when done via TNCC vs in-person NCC.
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  • 文章类型: Journal Article
    目的:在日常临床实践中,很少有研究报告使用2017年和2022年ILAE分类系统的癫痫谱。为了确定护理中的差距和机会,我们评估了应用这些癫痫分类系统的基于医院的队列。包括病因和合并症,以及分子遗传诊断在识别可用的精确疗法方面的实用性。
    方法:在高威大学医院(2017-2022年)就诊的所有癫痫患儿(≤16岁)的横断面回顾性研究。每个案例的数据收集和分析都是标准化的,以确保最近的ILAE分类和术语(2017年和2022年)的系统方法和应用。获得伦理批准。
    结果:在356名儿童中,癫痫被归类为局灶性癫痫(46.1%),广义(38.8%),合并(6.2%),未知(9%)。在145/356(40.7%)中确定了癫痫综合征,包括24种不同的综合征,最常见的排泄物(9%),CAE(7%),JAE(6.2%)和IESS(5.9%)。鉴定了新的病因特异性综合征(例如CDKL5-DEE)。在19.9%(n=71)中确认了分子诊断,其中包括单基因(13.8%)和染色体病/CNV(6.2%)。另外35.7%(n=127)的患者患有癫痫的遗传病因。其余病因包括结构性(18.8%,n=67),传染性(2%,n=7),代谢(1.7%,n=6)和未知(30.3%,n=108)。在182例患者中确定了脑病分类(DE占38.8%;DEE占11.8%),与一系列归类为全球延迟的合并症(29.2%,n=104),严重的神经功能缺损(16.3%,n=58),和ASD(14.6%,n=52)。基于分子的“精确治疗”被认为在21/356(5.9%)患者中可用,在13/356(3.7%)中使用了“分子精度”方法,总体队列的6/356(1.7%)或分子队列的6/71(8.5%)中注意到一些益处。
    结论:应用最新的ILAE癫痫分类系统可以在不同的环境中进行比较,并确定主要的神经发育共病率和大的遗传病因。我们发现很少有有意义的基于分子的疾病修饰“精确疗法”。在病因鉴定之间存在巨大的差距,以及有意义的疗法的影响,因此,新的2017/2022分类清楚地确定了提供常规癫痫治疗的主要挑战.
    OBJECTIVE: There is a paucity of studies reporting the epilepsy spectrum using the 2017 and 2022 ILAE classification systems in everyday clinical practice. To identify gaps and opportunities in care we evaluated a hospital-based cohort applying these epilepsy classification systems, including aetiology and co-morbidity, and the utility of molecular genetic diagnosis to identify available precision therapies.
    METHODS: Cross sectional retrospective study of all children with epilepsy (≤16 years) attending University Hospital Galway (2017-2022). Data collection and analysis of each case was standardised to ensure a systematic approach and application of the recent ILAE categorisation and terminology (2017 and 2022). Ethics approval was obtained.
    RESULTS: Among 356 children, epilepsy was classified as focal (46.1 %), generalised (38.8 %), combined (6.2 %), and unknown (9 %). Epilepsy syndrome was determined in 145/356 (40.7 %), comprising 24 different syndromes, most commonly SeLECTS (9 %), CAE (7 %), JAE (6.2 %) and IESS (5.9 %). New aetiology-specific syndromes were identified (e.g. CDKL5-DEE). Molecular diagnosis was confirmed in 19.9 % (n = 71) which encompassed monogenic (13.8 %) and chromosomopathy/CNV (6.2 %). There was an additional 35.7 % (n = 127) of patients who had a presumed genetic aetiology of epilepsy. Remaining aetiology included structural (18.8 %, n = 67), infectious (2 %, n = 7), metabolic (1.7 %, n = 6) and unknown (30.3 %, n = 108). Encephalopathy categorisation was determined in 182 patients (DE in 38.8 %; DEE in a further 11.8 %) associated with a range of co-morbidities categorised as global delay (29.2 %, n = 104), severe neurological impairment (16.3 %, n = 58), and ASD (14.6 %, n = 52). Molecular-based \"precision therapy\" was deemed available in 21/356 (5.9 %) patients, with \"molecular precision\" approach utilised in 13/356 (3.7 %), and some benefit noted in 6/356 (1.7 %) of overall cohort or 6/71 (8.5 %) of the molecular cohort.
    CONCLUSIONS: Applying the latest ILAE epilepsy classification systems allow comparison across settings and identifies a major neuro-developmental co-morbidity rate and a large genetic aetiology. We identified very few meaningful molecular-based disease modifying \"precision therapies\". There is a monumental gap between aetiological identification, and impact of meaningful therapies, thus the new 2017/2022 classification clearly identifies the major challenges in the provision of routine epilepsy care.
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  • 文章类型: Journal Article
    目的:诊断桥本脑病(HE)具有挑战性。与其他类型的自身免疫性脑炎相比,HE显示对类固醇治疗的良好反应。我们旨在调查原因不明的精神障碍患者的抗甲状腺抗体(ATAs)和可能的HE发生率,并比较预后良好和不良组之间的临床特征。
    方法:回顾性回顾了2006年3月1日至2023年2月28日我院神经内科患者的病历、脑电图(EEG)和神经影像学检查结果。使用我们提出的可能HE的诊断标准,我们比较了良好和不良结局组的临床特征.我们还调查了ATA阳性率和可能的HE。
    结果:总计,198例患者表现出精神改变,快速进行性认知衰退,或者肌阵挛症.对86名患者进行了ATA测试,ATAs和可能HE的检出率分别为29.1%和25.6%,分别。在22名患者中,结果良好和不良组包括19名和3名患者,分别。7例患者发生临床癫痫发作。6例患者在脑电图上观察到非惊厥性癫痫持续状态,所有这些人都对抗癫痫药物有难治性。21例患者中有19例(90.5%)接受免疫抑制剂治疗,结果良好。
    结论:HE是一种罕见的临床疾病,但没有以前想象的那么罕见。当他被怀疑时,类固醇应被视为一线治疗。早期诊断和适当的治疗对于在HE中获得良好的结果至关重要。
    OBJECTIVE: Diagnosing Hashimoto\'s encephalopathy (HE) is challenging. In contrast to other types of autoimmune encephalitis, HE shows an excellent response to steroid treatment. We aimed to investigate the rates of antithyroid antibodies (ATAs) and probable HE in patients with unexplained mental dysfunction and compare the clinical characteristics between the good- and poor-outcome groups.
    METHODS: We retrospectively reviewed the medical records and electroencephalography (EEG) and neuroimaging findings of patients admitted to the Department of Neurology of our hospital from March 1, 2006, to February 28, 2023. Using our proposed diagnostic criteria for probable HE, we compared the clinical characteristics between the good- and poor-outcome groups. We also investigated the rates of ATA positivity and probable HE.
    RESULTS: In total, 198 patients exhibited altered mentation, rapidly progressive cognitive decline, or myoclonus. ATA tests were performed on 86 patients, and the detection rates of ATAs and probable HE were 29.1% and 25.6%, respectively. Of the 22 patients enrolled, the good- and poor-outcome groups comprised 19 and 3 patients, respectively. Clinical seizures occurred in seven patients. Nonconvulsive status epilepticus on EEG was observed in six patients, all of whom were intractable to antiepileptic drugs. Nineteen of 21 patients (90.5%) treated with immunosuppressants showed good outcomes.
    CONCLUSIONS: HE is a rare clinical disorder, but not as rare as previously thought. When HE is suspected, steroids should be considered the first-line treatment. Early diagnosis and adequate treatment are critical to achieve good outcomes in HE.
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