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Acta Epileptologica最新文献

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Precision gene diagnosis and treatment of epilepsy: a new frontier in medical care. 精准基因诊断和治疗癫痫:医疗保健的新前沿。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 DOI: 10.1186/s42494-025-00241-3
Jie Mu, Weijia Jiang, Ying Tang, Dong Zhou, Weiping Liao
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引用次数: 0
Correction: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy. 更正:SPOUT1变异与常染色体隐性发育性脑病和癫痫性脑病相关。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-09-12 DOI: 10.1186/s42494-025-00240-4
Wenwei Liu, Kai Gao, Xilong Du, Sijia Wen, Huifang Yan, Jingmin Wang, Yong Wang, Conglei Song, Li Lin, Taoyun Ji, Weiyue Gu, Yuwu Jiang
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引用次数: 0
Long-term efficacy and predictors of vagus nerve stimulation in drug-resistant epilepsy: a multicenter cohort study. 迷走神经刺激治疗耐药癫痫的长期疗效和预测因素:一项多中心队列研究。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-09-01 DOI: 10.1186/s42494-025-00220-8
Bojing Tan, Yuye Liu, Mingkun Gong, Fangang Meng, Anchao Yang, Kai Zhang, Lin Sang, Jianguo Zhang

Background: At present, a number of indicators have been analyzed for the relationship with the efficacy of vagus nerve stimulation (VNS) in drug-resistant epilepsy (DRE) patients, but there is still no definite predictor of efficacy. This study is to assess the long-term effectiveness and predictors of VNS in DRE patients.

Methods: We analyzed DRE patients monitored for over a year post-surgery (2016-2019) to evaluate VNS outcomes. Logistic regression was used to identify efficacy predictors.

Results: Out of 162 DRE patients with VNS, 99 were followed for over 12 months, 80 for over 24 months, and 70 for over 36 months. At 12 months, 33 (33.4%) showed effectiveness, including 7 (7.1%) who were seizure-free. At 24 months, 32 (40.0%) were effective, including 12 (15.0%) who were seizure-free. At 36 months, 36 (51.4%) were effective, including 11 (15.7%) who were seizure-free. After 5 years, 27 (55.1%) were effective, including 8 (16.3%) who were seizure-free. Multivariate regression analysis identified structural etiology as a predictive factor for the effective VNS treatment (P = 0.039, OR = 0.35 [0.13-0.95]).

Conclusions: VNS effectively controls seizures, with effectiveness and seizure-free rates improving over time. Patients with structural factors are at higher risk of ineffective VNS, suggesting epilepsy etiology may predict VNS outcomes.

背景:目前已有多项指标分析了迷走神经刺激(VNS)对耐药癫痫(drug-resistant epilepsy, DRE)患者疗效的影响,但仍没有明确的预测指标。本研究旨在评估VNS在DRE患者中的长期疗效和预测因素。方法:我们分析了DRE患者术后监测一年多(2016-2019)来评估VNS结果。采用Logistic回归确定疗效预测因子。结果:162例DRE伴VNS患者中,随访超过12个月99例,随访超过24个月80例,随访超过36个月70例。12个月时,33例(33.4%)有效,其中7例(7.1%)无癫痫发作。24个月时有效32例(40.0%),其中无癫痫12例(15.0%)。36个月时有效36例(51.4%),其中无癫痫11例(15.7%)。5年后有效27例(55.1%),其中无发作8例(16.3%)。多因素回归分析发现结构病因是VNS有效治疗的预测因素(P = 0.039, OR = 0.35[0.13-0.95])。结论:VNS可有效控制癫痫发作,其有效性和无癫痫发作率随时间推移而提高。有结构因素的患者有更高的VNS无效风险,提示癫痫病因可以预测VNS结果。
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引用次数: 0
A hybrid metaheuristic framework for epileptic seizure detection in healthcare decision support systems. 医疗保健决策支持系统中癫痫发作检测的混合元启发式框架。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-09-01 DOI: 10.1186/s42494-025-00238-y
Indu Dokare, Sudha Gupta

Background: The detection of epileptic seizures is a crucial aspect of epilepsy care, requiring precision and reliability for effective diagnosis and treatment. Seizure detection plays a critical role in healthcare informatics, aiding in the timely diagnosis and management of epilepsy. The use of computational intelligence and optimization techniques has shown significant promise in improving the performance of automated seizure detection systems.

Methods: This research work proposes a novel hybrid approach that combines Ant Colony Optimization (ACO) for feature selection with Gray Wolf Optimization (GWO) to optimize the hyperparameters of a Random Forest (RF) classifier. In this patient-specific seizure detection, ACO effectively reduces the feature set, improving computational efficiency, while GWO ensures optimal RF performance. The method is evaluated on the Children's Hospital Boston-Massachusetts Institute of Technology (CHB-MIT) and Seina datasets, which include multichannel EEG data from epileptic patients. Performance metrics such as accuracy, sensitivity, and specificity are employed to evaluate the effectiveness of the seizure detection system.

Results: The proposed ACO-GWO-RF pipeline demonstrated excellent performance on the CHB-MIT dataset, with a mean accuracy of 96.70%, mean sensitivity of 92.66%, and mean specificity of 99.24%, outperforming existing approaches. The mean values of accuracy, sensitivity, and specificity obtained using the Seina dataset are 93.01%, 89.82%, and 96.26%, respectively. These improvements highlight the robustness of the hybrid metaheuristic method in handling complex EEG data.

Conclusions: The hybrid metaheuristic approach effectively optimizes the processing and classification of EEG data for seizure detection. Its strong performance across datasets suggests potential for integration into interactive health applications. Furthermore, its patient-specific adaptability makes it a promising tool for personalized epilepsy diagnosis, treatment, and long-term management.

背景:癫痫发作的检测是癫痫护理的一个重要方面,需要精确和可靠的有效诊断和治疗。癫痫检测在医疗保健信息学中起着至关重要的作用,有助于癫痫的及时诊断和管理。计算智能和优化技术的使用在提高自动缉获检测系统的性能方面显示出显著的前景。方法:本研究提出了一种新的混合方法,将蚁群优化(ACO)与灰狼优化(GWO)相结合,对随机森林(RF)分类器的超参数进行优化。在这种针对特定患者的癫痫发作检测中,蚁群算法有效地减少了特征集,提高了计算效率,而GWO算法则确保了最佳的射频性能。该方法在波士顿-麻省理工学院儿童医院(CHB-MIT)和Seina数据集上进行了评估,其中包括来自癫痫患者的多通道脑电图数据。性能指标,如准确性,灵敏度和特异性被用来评估癫痫检测系统的有效性。结果:本文提出的ACO-GWO-RF管道在CHB-MIT数据集上表现优异,平均准确率为96.70%,平均灵敏度为92.66%,平均特异性为99.24%,优于现有方法。使用Seina数据集获得的准确率、灵敏度和特异性的平均值分别为93.01%、89.82%和96.26%。这些改进突出了混合元启发式方法在处理复杂脑电数据方面的鲁棒性。结论:混合元启发式方法可有效优化脑电图数据的处理和分类,用于癫痫发作检测。它跨数据集的强大性能表明,有可能集成到交互式健康应用程序中。此外,它的患者特异性适应性使其成为个性化癫痫诊断、治疗和长期管理的有希望的工具。
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引用次数: 0
Refining seizure foci localization: the potential of TSPO-PET. 改进癫痫病灶定位:TSPO-PET的潜力。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-08-21 DOI: 10.1186/s42494-025-00234-2
Yiqiao Wang, Yuncan Chen, Shimin Xu, Xunyi Wu

Translocator protein positron emission tomography (TSPO-PET) is a novel imaging modality that leverages the high expression of TSPO in activated microglia and other cells within seizure foci. It has been increasingly applied in the preoperative evaluation of drug-resistant epilepsy (DRE) to aid in the localization of these foci. With advances in tracer development, TSPO-PET has achieved higher signal-to-noise ratios and broader clinical utility. Clinical studies indicate that TSPO-PET yields significantly higher positive detection rates for seizure foci compared to magnetic resonance imaging and fluorodeoxyglucose positron emission tomography. This review summarizes recent progress in TSPO-PET radiotracer technology, its mechanism of action, and its clinical applications for managing DRE.

转运蛋白正电子发射断层扫描(TSPO- pet)是一种新的成像方式,它利用了癫痫病灶内激活的小胶质细胞和其他细胞中TSPO的高表达。它已越来越多地应用于耐药癫痫(DRE)的术前评估,以帮助定位这些病灶。随着示踪剂发展的进步,TSPO-PET已经实现了更高的信噪比和更广泛的临床应用。临床研究表明,与磁共振成像和氟脱氧葡萄糖正电子发射断层扫描相比,TSPO-PET对癫痫灶的阳性检出率明显更高。本文综述了近年来TSPO-PET示踪技术的研究进展、作用机制及其在DRE治疗中的临床应用。
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引用次数: 0
Identify the origin of de novo variants in TSC patients by ddPCR. 用ddPCR方法鉴定TSC患者新生变异的起源。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-08-01 DOI: 10.1186/s42494-025-00227-1
Kun Ni, Xiaolong Yu, Jiehui Ma, Dan Sun

Background: Tuberous sclerosis complex (TSC), an inherited neurocutaneous disorder, is caused by variants in the TSC1 or TSC2 genes. The mosaic variants of TSC1 and TSC2 are scarcely detectable using the conventional next-generation sequencing (NGS). Therefore, this study aims to explore the detection and distribution of mosaic variants within affected families.

Methods: Through whole-exome sequencing (WES) or the TSC1/TSC2 panel to detect the variants of the TSC1 and TSC2 genes, the reaction system of droplet digital PCR (ddPCR) was designed to detect the mosaicism of these variants in affected families.

Results: Genetic testing was carried out on 29 TSC patients via WES or the TSC1/TSC2 panel. The results showed that 27 patients had positive results in the TSC gene variant tests. Fourteen cases were confirmed as de novo variants, and the asymptomatic fathers or mothers of 4 patients were identified as somatic mosaics by ddPCR, with mosaic proportions of 0.8%, 24.18%, 8.02%, and 0.33% respectively.

Conclusions: The ddPCR holds the potential to improve diagnostic accuracy, genetic risk assessment, and clinical diagnosis rates. Consequently, it could potentially be adopted as one of the modalities for prompt clinical diagnosis.

背景:结节性硬化症(TSC)是一种遗传性神经皮肤疾病,由TSC1或TSC2基因变异引起。TSC1和TSC2的镶嵌变体使用传统的下一代测序(NGS)几乎无法检测到。因此,本研究旨在探讨花叶变异在受影响家庭中的检测和分布。方法:通过全外显子组测序(WES)或TSC1/TSC2面板检测TSC1和TSC2基因的变异,设计液滴数字PCR (ddPCR)反应系统,检测这些变异在患病家族中的嵌合性。结果:29例TSC患者通过WES或TSC1/TSC2组进行基因检测。结果显示,27例患者TSC基因变异检测呈阳性。14例确诊为新生变异,4例无症状父亲或母亲经ddPCR鉴定为体细胞嵌合体,嵌合体比例分别为0.8%、24.18%、8.02%和0.33%。结论:ddPCR具有提高诊断准确性、遗传风险评估和临床诊断率的潜力。因此,它有可能被采纳为快速临床诊断的模式之一。
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引用次数: 0
Exploring the efficacy of deep brain stimulation in pediatric neurological disorders: a comprehensive review. 探讨脑深部电刺激治疗小儿神经系统疾病的疗效:一项综合综述。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-07-15 DOI: 10.1186/s42494-025-00230-6
Tianshuang Wang, Xinhua Wang, Yi Wang, Yuanfeng Zhou

Deep brain stimulation (DBS) has emerged as an important therapeutic intervention, effectively addressing a spectrum of drug-resistant neurological and psychiatric disorders. Although its efficacy has been validated in adult populations, the current literature reveals a significant gap concerning its application in pediatric patients. Specifically, pediatric populations afflicted with severe conditions such as dystonia, drug-resistant epilepsy, Tourette syndrome, and some other neuropsychiatric conditions demonstrate an urgent need for alternative therapeutic options. This review systematically examined the existing literature on the application of DBS in pediatric neurological disorders, focusing on the aforementioned conditions. Preliminary findings indicate that while DBS shows potential for a specific subset of pediatric patients, the current data is limited and lacks statistical power. Reported cases exhibit varying degrees of therapeutic success. Although adverse effects associated with DBS in pediatric populations are rare, further investigation is essential to define safety profiles accurately. Future research should focus on conducting large-scale, randomized controlled trials to validate outcomes and determine optimal patient selection criteria, thereby broadening its clinical application within the pediatric population.

深部脑刺激(DBS)已成为一种重要的治疗干预措施,有效地解决了一系列耐药神经和精神疾病。虽然其功效已在成人人群中得到验证,但目前的文献显示其在儿科患者中的应用存在显着差距。特别是,患有肌张力障碍、耐药癫痫、妥瑞氏综合征和其他一些神经精神疾病的儿童,迫切需要替代治疗方案。本文系统地回顾了DBS在小儿神经系统疾病中的应用,重点关注上述情况。初步研究结果表明,虽然DBS显示出对特定儿科患者子集的潜力,但目前的数据有限,缺乏统计效力。报告的病例表现出不同程度的治疗成功。虽然与DBS相关的不良反应在儿科人群中很少见,但为了准确地确定安全性,进一步的研究是必要的。未来的研究应侧重于进行大规模的随机对照试验,以验证结果并确定最佳患者选择标准,从而扩大其在儿科人群中的临床应用。
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引用次数: 0
From the different pathogenesis of epileptogenesis: vitamins as an adjunctive treatment for epilepsy. 从癫痫发生的不同发病机制:维生素作为癫痫的辅助治疗。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-07-09 DOI: 10.1186/s42494-025-00228-0
Weiyi Sun, Yiming Wang, Bo Xiao, Zhaohui Luo

Vitamins play an essential role in the maintenance of normal physiological functions of the human body. In recent years, the use of vitamins as an adjunctive treatment for epilepsy has attracted increasing interest academically. There is a substantial body of evidence indicating that vitamin supplementation could contribute to the treatment and prevention of epilepsy. This review  discusses the pathogenesis of epilepsy associated with ten vitamins from five perspectives, namely,  inflammatory signaling pathways, excitotoxicity, oxidative stress, neuroprotection, and the blood-brain barrier, and explores the relationships between the gut microbiota and vitamins in epileptic disorders with a focus on summarizing the antiepileptic effects of vitamin D and vitamin E. In addition, we discuss the effects of antiseizure medications on vitamins. This review aims to provide a more comprehensive view of the use of vitamins as an adjunctive therapy in epilepsy.

维生素在维持人体正常生理机能方面起着至关重要的作用。近年来,维生素作为癫痫的辅助治疗引起了学术界越来越大的兴趣。有大量证据表明,补充维生素可能有助于治疗和预防癫痫。本文从炎症信号通路、兴奋性毒性、氧化应激、神经保护和血脑屏障等5个方面探讨了10种维生素与癫痫的发病机制,并探讨了癫痫疾病中肠道微生物群与维生素的关系,重点综述了维生素D和维生素e的抗癫痫作用。此外,还讨论了抗癫痫药物对维生素的影响。这篇综述的目的是提供一个更全面的观点,使用维生素作为辅助治疗癫痫。
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引用次数: 0
Predictive value of peripheral blood inflammatory markers for epilepsy occurrence in traumatic brain injury patients. 外周血炎症标志物对外伤性脑损伤患者癫痫发生的预测价值。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-06-26 DOI: 10.1186/s42494-025-00226-2
Sheng-Xue Wang, Qiang Zi, Yu-Xuan Li, Wang Guo, Yu-Hao Chu, Xue-Ping Yang, Yun Li

Background: Post-traumatic epilepsy (PTE) is characterised by recurrent epileptic seizures following traumatic brain injury (TBI). PTE has a high incidence and leads to significant disability rates, posing a substantial socioeconomic burden. This study aimed to evaluate the predictive value of peripheral blood inflammatory markers-including neutrophils, lymphocytes, platelets, the neutrophil-to-lymphocyte ratio (NLR), and the platelet-to-lymphocyte ratio (PLR)-for seizure risk in patients with TBI.

Methods: This investigation involved the enrollment of patients admitted to the Department of Neurology/Surgery at the First Affiliated Hospital of Dali University in Yunnan Province, China, spanning the period from January 2020 to May 2023. Our cohort comprised 138 individuals with PTE, 150 with TBI, 142 with epilepsy of unknown origin, and 130 healthy controls (HC). We retrospectively analysed demographic characteristics and peripheral blood cell inflammation markers for all participants.

Results: 1. In the PTE group, both neutrophil count and NLR exhibited higher levels compared to the TBI group, the epilepsy of unknown origin group, and the HC group. Conversely, the lymphocyte count, platelet count, and PLR in the group were lower in contrast to the TBI group, the epilepsy of unknown origin group, and the HC group. 2. Neutrophil count, lymphocyte count, platelet count, NLR, and PLR were significantly different between the PTE and TBI, PTE and HC groups (P < 0.05). Marked distinctions were detected in neutrophil count, platelet count, NLR, and PLR between the PTE group and the epilepsy of unknown origin group (P < 0.05). 3. Furthermore, our multivariate linear regression analysis unveiled that the TBI site (temporal lobe) (P < 0.05), the severity of TBI (mild, moderate, severe) (P < 0.05), and surgical intervention (P < 0.05) are the risk factors affecting the peripheral blood inflammation indicators. 4. Finally, the ROC analysis produced an AUC of 0.908 for neutrophil levels (cut-off: 4.05, sensitivity: 0.783, specificity: 0.992) and an AUC of 0.960 for NLR (cut-off: 2.945, sensitivity: 0.797, specificity: 0.992).

Conclusions: Both neutrophil count and the NLR were significantly increased in the PTE group, suggesting that these parameters may serve as predictors of epilepsy development in TBI patients.

背景:创伤后癫痫(PTE)的特征是外伤性脑损伤(TBI)后复发性癫痫发作。PTE发病率高,致残率高,造成严重的社会经济负担。本研究旨在评估外周血炎症标志物(包括中性粒细胞、淋巴细胞、血小板、中性粒细胞与淋巴细胞比值(NLR)和血小板与淋巴细胞比值(PLR))对TBI患者癫痫发作风险的预测价值。方法:本研究纳入了2020年1月至2023年5月在中国云南省大理大学第一附属医院神经内科/外科住院的患者。我们的队列包括138名PTE患者、150名TBI患者、142名不明原因癫痫患者和130名健康对照(HC)。我们回顾性分析了所有参与者的人口统计学特征和外周血细胞炎症标志物。结果:1。PTE组中性粒细胞计数和NLR均高于TBI组、不明原因癫痫组和HC组。相反,淋巴细胞计数、血小板计数、PLR均低于TBI组、不明原因癫痫组和HC组。2. PTE组与TBI组、PTE组与HC组中性粒细胞计数、淋巴细胞计数、血小板计数、NLR、PLR差异均有统计学意义(P < 0.05)。PTE组与不明原因癫痫组中性粒细胞计数、血小板计数、NLR、PLR差异有统计学意义(P < 0.05)。3. 此外,我们的多元线性回归分析显示,TBI部位(颞叶)(P < 0.05)、TBI严重程度(轻度、中度、重度)(P < 0.05)和手术干预(P < 0.05)是影响外周血炎症指标的危险因素。4. 最后,ROC分析得出中性粒细胞水平的AUC为0.908(截止值:4.05,敏感性:0.783,特异性:0.992),NLR的AUC为0.960(截止值:2.945,敏感性:0.797,特异性:0.992)。结论:PTE组中性粒细胞计数和NLR均显著升高,提示这些参数可作为TBI患者癫痫发展的预测指标。
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引用次数: 0
Minocycline in chronic management of febrile infection-related epilepsy syndrome (FIRES): a case series and literature review of treatment strategies. 米诺环素在发热性感染相关癫痫综合征(FIRES)的慢性治疗中的应用:一个病例系列和治疗策略的文献综述。
IF 1.2 Q4 CLINICAL NEUROLOGY Pub Date : 2025-06-06 DOI: 10.1186/s42494-025-00224-4
Lanlan Feng, Hui Li, Lei Ma, Mengmeng Hu, Bo Hui, Zhongqing Sun, Xiaomu Wang, Yuanyuan Wang, Wen Jiang

The effectiveness of treatment for the chronic phase of febrile infection-related epilepsy syndrome (FIRES) remains uncertain. This study aimed to evaluate the therapeutic efficacy of minocycline in patients with chronic FIRES who had a poor response to conventional antiseizure medications. Three patients received 100 mg of minocycline (100 mg twice daily for 12 weeks), with effectiveness assessed based on seizure frequency, duration, type, and quality of life (using the quality of life in epilepsy-31, QOLIE-31), alongside adverse event monitoring. Results showed that one patient (Patient 3) exhibited a significant reduction in seizure duration and improved QOLIE-31 scores, with focal seizures being the only type observed after treatment. However, there was no statistically significant change in overall seizure frequency among the three patients. Additionally, a short literature review was conducted to explore various management strategies for chronic FIRES, including IL-1 receptor antagonist (anakinra) and IL-6 receptor antagonist (tocilizumab), centro-median thalamic nuclei deep brain stimulation, cannabidiol, responsive neurostimulation, intrathecal dexamethasone, ketogenic diet, and vagus nerve stimulation. In conclusion, considering the existing research on the etiological mechanisms of FIRES and based on our preliminary findings on the anti-inflammatory and antiepileptic properties of minocycline, early initiation of minocycline therapy in the chronic phase of FIRES should be explored further.Trial registrationClinicaltrials.gov (NCT05958069, retrospectively registered 22 July 2023).

治疗慢性发热性感染相关癫痫综合征(FIRES)的有效性仍不确定。本研究旨在评估米诺环素对传统抗癫痫药物反应不佳的慢性FIRES患者的治疗效果。3例患者接受100mg米诺环素治疗(100mg每日两次,持续12周),根据癫痫发作频率、持续时间、类型和生活质量(使用癫痫患者生活质量-31,QOLIE-31)以及不良事件监测来评估疗效。结果显示,1例患者(患者3)癫痫发作时间明显缩短,QOLIE-31评分明显提高,治疗后唯一观察到局灶性癫痫发作。然而,三名患者的总体癫痫发作频率没有统计学上的显著变化。此外,一篇简短的文献综述探讨了慢性FIRES的各种管理策略,包括IL-1受体拮抗剂(anakinra)和IL-6受体拮抗剂(tocilizumab),丘脑中央-正中核深部脑刺激,大麻二酚,反应性神经刺激,鞘内地塞米松,生酮饮食和迷走神经刺激。综上所述,考虑到目前对FIRES病因机制的研究,并基于我们对米诺环素抗炎和抗癫痫作用的初步发现,应进一步探索在FIRES慢年期早期开始米诺环素治疗。试验注册:clinicaltrials .gov (NCT05958069,回顾性注册于2023年7月22日)。
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引用次数: 0
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