Neurology最新文献

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Teaching NeuroImage: Diencephalic-Mesencephalic Junction Dysplasia, Type B. 教学神经影像:间脑-中脑交界处发育不良,B型。
IF 7.7 1区 医学
Neurology Pub Date : 2025-07-01 Epub Date: 2025-06-06 DOI: 10.1212/WNL.0000000000213821
Ooha Balireddi, Ajeet Selvam, Anitha Jasper, Prabhakar Thirumal Appaswamy
{"title":"Teaching NeuroImage: Diencephalic-Mesencephalic Junction Dysplasia, Type B.","authors":"Ooha Balireddi, Ajeet Selvam, Anitha Jasper, Prabhakar Thirumal Appaswamy","doi":"10.1212/WNL.0000000000213821","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213821","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 1","pages":"e213821"},"PeriodicalIF":7.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C. n-乙酰-l-亮氨酸在成人和儿童尼曼-皮克病C型患者中的疾病改善和神经保护作用
IF 7.7 1区 医学
Neurology Pub Date : 2025-07-01 Epub Date: 2025-06-13 DOI: 10.1212/WNL.0000000000213589
Marc C Patterson, Uma Ramaswami, Aimee Donald, Tomas Foltan, Matthias Gautschi, Paul Gissen, Andreas Hahn, Simon A Jones, Richard Kay, Miriam Kolniková, Julien Park, Stella Reichmannová, Mark Walterfang, Pierre Wibawa, Marianne Rohrbach, Kyriakos Martakis, Tatiana Bremova-Ertl
{"title":"Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.","authors":"Marc C Patterson, Uma Ramaswami, Aimee Donald, Tomas Foltan, Matthias Gautschi, Paul Gissen, Andreas Hahn, Simon A Jones, Richard Kay, Miriam Kolniková, Julien Park, Stella Reichmannová, Mark Walterfang, Pierre Wibawa, Marianne Rohrbach, Kyriakos Martakis, Tatiana Bremova-Ertl","doi":"10.1212/WNL.0000000000213589","DOIUrl":"10.1212/WNL.0000000000213589","url":null,"abstract":"<p><strong>Background and objectives: </strong>N-acetyl-l-leucine (NALL) has been established to improve the neurologic manifestations of Niemann-Pick disease type C (NPC) after 12 weeks in a placebo-controlled trial. In the open-label extension phase (EP) follow-up, data were obtained after 12 and 18 months to evaluate the long-term effects of NALL for NPC.</p><p><strong>Methods: </strong>This is an ongoing, multinational, multicenter EP. Patients with a genetic diagnosis of NPC aged 4 years or older who completed the placebo-controlled trial were eligible to continue in the EP and receive orally administered NALL 2-3 times per day in 3 tiers of weight-based dosing. The primary end point is the modified 5-domain NPC Clinical Severity Scale (NPC-CSS) (range 0-25 points; lower score representing better neurologic status); data from the EP cohort are compared with the expected annual trajectory of decline (i.e., disease progression) established in natural history studies. Analyses are also performed on exploratory end points, including the 15-domain and 4-domain NPC-CSSs and the Scale for Assessment and Rating of Ataxia (SARA).</p><p><strong>Results: </strong>Fifty-three patients aged 5-67 years (45.3% female, 54.7% male) were enrolled in the EP. After 12 months, the mean (±SD) change from baseline on the 5-domain NPC-CSS was -0.27 (±2.42) with NALL vs +1.5 (±3.16) in the historical cohort (95% CI -3.05 to -0.48; <i>p</i> = 0.009), corresponding to a 118% reduction in annual disease progression. After 18 months, the mean (±SD) change was +0.05 (±2.95) with NALL vs +2.25 (±4.74) in the historical cohort (95% CI -4.06 to -0.35; <i>p</i> = 0.023). The 15-domain and 4-domain NPC-CSSs were consistent with the 5-domain NPC-CSS. The improvements in neurologic manifestations demonstrated in the placebo-controlled trial on the primary SARA end point were sustained over the long-term follow-up. NALL was well tolerated, and no treatment-related adverse events or serious reactions occurred.</p><p><strong>Discussion: </strong>Treatment with NALL was associated with a significant reduction in NPC disease progression after 12 and 18 months, demonstrating a disease-modifying, neuroprotective effect.</p><p><strong>Trial registration information: </strong>The trial is registered with ClinicalTrials.gov (NCT05163288; registered December 6, 2021), EudraCT (2021-005356-10). The first patient was enrolled into the EP on March 8, 2023. The trial was funded by IntraBio Inc.</p><p><strong>Classification of evidence: </strong>This study provides Class IV evidence that NALL reduces disease progression in NPC.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 1","pages":"e213589"},"PeriodicalIF":7.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
N-Acetyl-l-Leucine for Niemann-Pick Type C: Cautious Optimism for an Expanded Treatment Toolkit. n-乙酰-l-亮氨酸用于Niemann-Pick C型:对扩展治疗工具箱的谨慎乐观。
IF 7.7 1区 医学
Neurology Pub Date : 2025-07-01 Epub Date: 2025-06-13 DOI: 10.1212/WNL.0000000000213857
Dakota J S J Peacock, Darius Ebrahimi-Fakhari
{"title":"N-Acetyl-l-Leucine for Niemann-Pick Type C: Cautious Optimism for an Expanded Treatment Toolkit.","authors":"Dakota J S J Peacock, Darius Ebrahimi-Fakhari","doi":"10.1212/WNL.0000000000213857","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213857","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 1","pages":"e213857"},"PeriodicalIF":7.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Teaching NeuroImage: A Case of Otosyphilis Mimicking Facial Nerve Schwannoma. 神经影像学教学:耳梅毒模仿面神经鞘瘤1例。
IF 7.7 1区 医学
Neurology Pub Date : 2025-07-01 Epub Date: 2025-06-05 DOI: 10.1212/WNL.0000000000213789
Aren Singh Saini, Kayla Samimi, Mayank Kotadia, Rita Ghose Bhatia, Folusakin Ayoade, Carolina Gesteira Benjamin, Ruham Alshiekh Nasany, Eric A Mellon
{"title":"Teaching NeuroImage: A Case of Otosyphilis Mimicking Facial Nerve Schwannoma.","authors":"Aren Singh Saini, Kayla Samimi, Mayank Kotadia, Rita Ghose Bhatia, Folusakin Ayoade, Carolina Gesteira Benjamin, Ruham Alshiekh Nasany, Eric A Mellon","doi":"10.1212/WNL.0000000000213789","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213789","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 1","pages":"e213789"},"PeriodicalIF":7.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144234647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Journal Club: Cancer Risk Among Patients With Multiple Sclerosis: A 10-Year Nationwide Retrospective Cohort Study. 杂志俱乐部:多发性硬化症患者的癌症风险:一项10年全国回顾性队列研究。
IF 7.7 1区 医学
Neurology Pub Date : 2025-07-01 Epub Date: 2025-06-05 DOI: 10.1212/WNL.0000000000213663
Analisa Jia, Tiffany Rose Price, Jan Rosner, Conor Broderick, Jacquelyn Judith Cragg
{"title":"Journal Club: Cancer Risk Among Patients With Multiple Sclerosis: A 10-Year Nationwide Retrospective Cohort Study.","authors":"Analisa Jia, Tiffany Rose Price, Jan Rosner, Conor Broderick, Jacquelyn Judith Cragg","doi":"10.1212/WNL.0000000000213663","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213663","url":null,"abstract":"<p><p>This journal club article discusses the strengths and limitations of a study from Pierret et al., which examined cancer risk for patients with multiple sclerosis (MS). Before this study, the relationship between MS and cancer risk was unclear because some studies suggested an increased risk while others indicated a decreased risk, highlighting a significant knowledge gap in understanding this complex connection. It is essential to understand how MS may influence cancer susceptibility to assess treatment safety and improve patient care. This study demonstrated that cancer risk, especially for urogenital cancers, was modestly elevated in people with MS.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 1","pages":"e213663"},"PeriodicalIF":7.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144234642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neighborhood Socioeconomic Status and the Functional Outcome of Patients Treated With Endovascular Thrombectomy for Ischemic Stroke. 缺血性脑卒中血管内取栓术患者的社区社会经济地位和功能结局。
IF 7.7 1区 医学
Neurology Pub Date : 2025-07-01 Epub Date: 2025-06-13 DOI: 10.1212/WNL.0000000000213615
Bridget A Schoon, Daniël Hansen, Bob Roozenbeek, Joost Oude Groeniger, Wouter van der Steen, Aad van der Lugt, Manon Kappelhof, Yvo B W E M Roos, Charles B L M Majoie, Frank van Lenthe, Diederik W J Dippel
{"title":"Neighborhood Socioeconomic Status and the Functional Outcome of Patients Treated With Endovascular Thrombectomy for Ischemic Stroke.","authors":"Bridget A Schoon, Daniël Hansen, Bob Roozenbeek, Joost Oude Groeniger, Wouter van der Steen, Aad van der Lugt, Manon Kappelhof, Yvo B W E M Roos, Charles B L M Majoie, Frank van Lenthe, Diederik W J Dippel","doi":"10.1212/WNL.0000000000213615","DOIUrl":"10.1212/WNL.0000000000213615","url":null,"abstract":"<p><strong>Background and objectives: </strong>Socioeconomically deprived neighborhoods are known to have higher incidence rates of stroke and less access to high-quality stroke care. We aimed to examine whether there is an association between neighborhood socioeconomic status (nSES) and functional outcome after endovascular thrombectomy (EVT) for ischemic stroke in a high-income country.</p><p><strong>Methods: </strong>Data from 2 randomized trials, which included patients treated with EVT within 6 hours after stroke onset: MR CLEAN-MED and MR CLEAN-NO IV were studied. A per postcode composite score of education, employment, and household income (scores ranging from -1 to 1) created by Statistics Netherlands, represented nSES. The association with functional outcome after 90 days (modified Rankin Scale [mRS]), functional independence (mRS 0-2), neurologic deficit at 24 hours (NIH Stroke Scale [NIHSS]), and radiologic outcomes (expanded treatment in cerebral infarction score and follow-up infarct volume [FIV]) were analyzed using regression analyses adjusted for patient characteristics, including baseline NIHSS.</p><p><strong>Results: </strong>We included 910 patients (median age 71.5 years, 404 (44.4%) women, median baseline NIHSS 15) in the analyses. Patients with a higher nSES had a higher likelihood of a more favorable functional outcome (a shift toward improved outcome on the mRS) (adjusted common odds ratio [OR] 1.90, 95% CI 1.21-3.01) and were more likely to have regained functional independence (adjusted OR 3.21, 95% CI 1.82-5.70) at 90 days. There was no significant association between the nSES and the degree of neurologic deficit at 24 hours (adjusted β -0.24, 95% CI -0.50 to 0.01, <i>p</i> = 0.06) or radiologic outcomes (reperfusion status [adjusted OR 0.89, 95% CI 0.45-1.78], FIV [adjusted β 0.01, 95% CI -0.17 to 0.20, <i>p</i> = 0.89]).</p><p><strong>Discussion: </strong>Living in a more socioeconomically affluent neighborhood was associated with a more favorable functional outcome at 90 days, but not with degree of neurologic deficit at 24 hours or radiologic outcomes. This suggests that nSES-based inequalities exist in the postacute phase of stroke care, and highlights the importance of continuing to work toward health equity for patients with stroke.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 1","pages":"e213615"},"PeriodicalIF":7.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12172059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploration of Prolonged Remission and the Natural Course of Cluster Headache: An Interview-Based Cohort Study. 丛集性头痛的长期缓解和自然病程的探讨:一项基于访谈的队列研究。
IF 7.7 1区 医学
Neurology Pub Date : 2025-07-01 Epub Date: 2025-06-13 DOI: 10.1212/WNL.0000000000213795
Willemijn Naber, Paulien van Tilborg, Anna Zuidgeest, Leopoldine Wilbrink, Wim Mulleners, Roemer Brandt, Rolf Fronczek
{"title":"Exploration of Prolonged Remission and the Natural Course of Cluster Headache: An Interview-Based Cohort Study.","authors":"Willemijn Naber, Paulien van Tilborg, Anna Zuidgeest, Leopoldine Wilbrink, Wim Mulleners, Roemer Brandt, Rolf Fronczek","doi":"10.1212/WNL.0000000000213795","DOIUrl":"10.1212/WNL.0000000000213795","url":null,"abstract":"<p><strong>Background and objectives: </strong>The aim of this study was to gain rare insight into prolonged cluster headache (CH) remission by (1) identifying patterns and factors associated with and (2) phenotypical changes before prolonged remission. The results can help patients better understand their disease course and uncover mechanisms behind spontaneous remission.</p><p><strong>Methods: </strong>In this cross-sectional cohort study, all participants with a history of (probable) CH from the Leiden University Medical Center cohort were invited to complete a screening survey. Participants in prolonged remission were invited for a telephone interview. Prolonged remission was defined as (1) no current prophylactic treatment and (2) an attack-free period of ≥5 years and/or twice the mean between-episode time. Main outcomes are average age at prolonged remission onset and disease duration. Data were collected between April 10 and August 9, 2024, and analyzed using descriptive and survival statistics.</p><p><strong>Results: </strong>Of those invited, 43.2% (778/1,801) responded; 625 were included in the survey analysis, and 125 (20%) met prolonged remission criteria during interview. The median age at inclusion was 58 years (interquartile range [IQR] 48-67) with 32% female. Remission occurred on average at age 55 (IQR 48-63) after a disease duration of 23 (15-33) years. In 62% (N = 78), remission occurred abruptly. Of those with gradual remission (38%, N = 47), attack frequency (65%) and intensity (59%) decreased and between-episode intervals increased (52%) before remission. Probability of prolonged remission was higher in those with episodic CH (hazard ratio [HR] 6.60, 95% CI 3.55-12.31), who had quit smoking (HR 2.53, 95% CI 1.66-3.86), who had a higher attack intensity (HR 1.28, 95% CI 1.08-1.52), and who had a higher age at disease onset (HR 1.05, 95% CI 1.03-1.06).</p><p><strong>Discussion: </strong>This cohort offers rare insight into prolonged CH remission, typically starting around the mid-50s after 25 years of active disease. Prolonged remission is not tied to a single factor such as disease duration. Remission onset does not peak at a specific age, and disease duration varies widely between patients with remission. Remission probability is higher in the episodic form despite a longer disease duration compared with the chronic form. The association between quitting smoking and prolonged remission supports a causal link with smoking and disease activity. These preliminary retrospective results require confirmation in future studies.</p>","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 1","pages":"e213795"},"PeriodicalIF":7.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12172058/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patients' Characteristics and Clinical Presentations of Radiation-Induced Intracranial Aneurysms: A Descriptive Systematic Review (P1-13.005). 放射性颅内动脉瘤患者的特征和临床表现:一项描述性系统综述(P1-13.005)。
IF 7.7 1区 医学
Neurology Pub Date : 2025-07-01 Epub Date: 2025-06-05 DOI: 10.1212/WNL.0000000000213844
Mohammed Baker, Haneen Yousef Aljaiuossi, Dina Talal Badawi, Mohammad Omar Alkhawaldeh, Leen Ghazi Farouq Alsayeh, Yazan Badie Jalil El-Dayeh, Sadeen Eid, Amer A Alomari
{"title":"Patients' Characteristics and Clinical Presentations of Radiation-Induced Intracranial Aneurysms: A Descriptive Systematic Review (P1-13.005).","authors":"Mohammed Baker, Haneen Yousef Aljaiuossi, Dina Talal Badawi, Mohammad Omar Alkhawaldeh, Leen Ghazi Farouq Alsayeh, Yazan Badie Jalil El-Dayeh, Sadeen Eid, Amer A Alomari","doi":"10.1212/WNL.0000000000213844","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213844","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 1","pages":"e213844"},"PeriodicalIF":7.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144234645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Orolingual Drinking Tremor Treated With Botulinum Toxin. 肉毒杆菌毒素治疗口舌性饮水性震颤。
IF 7.7 1区 医学
Neurology Pub Date : 2025-07-01 Epub Date: 2025-06-05 DOI: 10.1212/WNL.0000000000213779
Charlie Weige Zhao, Phillip C Song, Justin Matthew Cheung, Kevin Kyle
{"title":"Orolingual Drinking Tremor Treated With Botulinum Toxin.","authors":"Charlie Weige Zhao, Phillip C Song, Justin Matthew Cheung, Kevin Kyle","doi":"10.1212/WNL.0000000000213779","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213779","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 1","pages":"e213779"},"PeriodicalIF":7.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144234644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Robert B. Daroff, MD (1936-2025). 罗伯特·b·达洛夫,医学博士(1936-2025)。
IF 7.7 1区 医学
Neurology Pub Date : 2025-07-01 Epub Date: 2025-06-05 DOI: 10.1212/WNL.0000000000213816
Michael DeGeorgia, R John Leigh, Cathy Sila
{"title":"Robert B. Daroff, MD (1936-2025).","authors":"Michael DeGeorgia, R John Leigh, Cathy Sila","doi":"10.1212/WNL.0000000000213816","DOIUrl":"https://doi.org/10.1212/WNL.0000000000213816","url":null,"abstract":"","PeriodicalId":19256,"journal":{"name":"Neurology","volume":"105 1","pages":"e213816"},"PeriodicalIF":7.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144234646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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