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RAB32 mutation in Parkinson's disease. 帕金森病中的 RAB32 基因突变。
IF 46.5 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/S1474-4422(24)00327-2
Yuwen Zhao, Hongxu Pan, Jifeng Guo, Beisha Tang, Zhenhua Liu
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引用次数: 0
Differential diagnosis of suspected multiple sclerosis: considerations in people from minority ethnic and racial backgrounds in North America, northern Europe, and Australasia. 疑似多发性硬化症的鉴别诊断:北美、北欧和澳大拉西亚少数民族和种族背景人群的考虑因素。
IF 46.5 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/S1474-4422(24)00288-6
Lilyana Amezcua, Dalia Rotstein, Afsaneh Shirani, Olga Ciccarelli, Daniel Ontaneda, Melinda Magyari, Victor Rivera, Dorlan Kimbrough, Ruth Dobson, Bruce Taylor, Mitzi Williams, Ruth Ann Marrie, Brenda Banwell, Bernhard Hemmer, Scott D Newsome, Jeffrey A Cohen, Andrew J Solomon, Walter Royal

The differential diagnosis of suspected multiple sclerosis has been developed using data from North America, northern Europe, and Australasia, with a focus on White populations. People from minority ethnic and racial backgrounds in regions where prevalence of multiple sclerosis is high are more often negatively affected by social determinants of health, compared with White people in these regions. A better understanding of changing demographics, the clinical characteristics of people from minority ethnic or racial backgrounds, and the social challenges they face might facilitate equitable clinical approaches when considering a diagnosis of multiple sclerosis. Neuromyelitis optica, systemic lupus erythematous, neurosarcoidosis, infections, and cerebrovascular conditions (eg, hypertension) should be considered in the differential diagnosis of multiple sclerosis for people from minority ethnic and racial backgrounds in North America, northern Europe, and Australasia. The diagnosis of multiple sclerosis in people from a minority ethnic or racial background in these regions requires a comprehensive approach that considers the complex interplay of immigration, diagnostic inequity, and social determinants of health.

疑似多发性硬化症的鉴别诊断是根据北美、北欧和澳大拉西亚的数据制定的,重点是白人。在多发性硬化症发病率较高的地区,来自少数族裔和种族背景的人与这些地区的白人相比,更经常受到健康社会决定因素的负面影响。更好地了解人口结构的变化、少数民族或种族背景人群的临床特征以及他们所面临的社会挑战,可能有助于在考虑诊断多发性硬化症时采取公平的临床方法。在对北美、北欧和澳大拉西亚的少数族裔和种族背景的人进行多发性硬化症鉴别诊断时,应考虑神经性脊髓炎视网膜病变、系统性红斑狼疮、神经肉芽肿病、感染和脑血管疾病(如高血压)。诊断这些地区少数民族或种族背景人群的多发性硬化症需要采取综合方法,考虑到移民、诊断不公平和健康的社会决定因素之间复杂的相互作用。
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引用次数: 0
Brain volume change following anti-amyloid β immunotherapy for Alzheimer's disease: amyloid-removal-related pseudo-atrophy. 抗淀粉样蛋白β免疫疗法治疗阿尔茨海默病后的脑容量变化:淀粉样蛋白清除相关假性萎缩。
IF 46.5 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/S1474-4422(24)00335-1
Christopher R S Belder, Delphine Boche, James A R Nicoll, Zane Jaunmuktane, Henrik Zetterberg, Jonathan M Schott, Frederik Barkhof, Nick C Fox

Progressive cerebral volume loss on MRI is a hallmark of Alzheimer's disease and has been widely used as an outcome measure in clinical trials, with the prediction that disease-modifying treatments would slow loss. However, in trials of anti-amyloid immunotherapy, the participants who received treatment had excess volume loss. Explanations for this observation range from reduction of amyloid β plaque burden and related inflammatory changes through to treatment-induced toxicity. The excess volume changes are characteristic of only those immunotherapies that achieve amyloid β lowering; are compatible with plaque removal; and evidence to date does not suggest an association with harmful effects. Based on the current evidence, we suggest that these changes can be described as amyloid-removal-related pseudo-atrophy. Better understanding of the causes and consequences of these changes is important to enable informed decisions about treatments. Patient-level analyses of data from the trials are urgently needed, along with longitudinal follow-up and neuroimaging data, to determine the long-term trajectory of these volume changes and their clinical correlates. Post-mortem examination of cerebral tissue from treated patients and evaluation of potential correlation with antemortem neuroimaging findings are key priorities.

核磁共振成像显示的渐进性脑容量损失是阿尔茨海默病的特征之一,已被广泛用作临床试验的结果测量指标,并预测改变病情的治疗会减缓容量损失。然而,在抗淀粉样蛋白免疫疗法试验中,接受治疗的参与者的脑容量损失过多。对这一现象的解释包括淀粉样β斑块负担的减轻和相关炎症变化,以及治疗引起的毒性。只有那些能降低淀粉样β斑块的免疫疗法才会出现过量的体积变化,而且这种变化与斑块的清除是一致的。根据目前的证据,我们认为这些变化可被描述为与淀粉样蛋白清除相关的假性萎缩。更好地了解这些变化的原因和后果对于做出明智的治疗决定非常重要。目前急需对试验数据进行患者层面的分析,并提供纵向随访和神经影像学数据,以确定这些体积变化的长期轨迹及其临床相关性。对接受过治疗的患者的脑组织进行死后检查,并评估其与死前神经影像学检查结果的潜在相关性,是当务之急。
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引用次数: 0
RAB32 mutation in Parkinson's disease. 帕金森病中的 RAB32 基因突变。
IF 46.5 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/S1474-4422(24)00324-7
Edoardo Monfrini, Raffaella Minardi, Franco Valzania, Giovanna Calandra-Buonaura, Paola Mandich, Alessio Di Fonzo
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引用次数: 0
The Yaoundé Declaration. 雅温得宣言
IF 46.5 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-22 DOI: 10.1016/S1474-4422(24)00364-8
Alfred K Njamnshi, Agustin Ibanez, Gagandeep Singh, Mika Pyykko, Vladimir Hachinski, Harris A Eyre
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引用次数: 0
RAB32 mutation in Parkinson's disease. 帕金森病中的 RAB32 基因突变。
IF 46.5 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/S1474-4422(24)00323-5
Christian Beetz, Mandy Radefeldt, Kornelia Tripolszki, Krishna Kumar Kandaswamy, Peter Bauer
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引用次数: 0
Targeting C9orf72 in people with ALS. 针对 ALS 患者的 C9orf72。
IF 46.5 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-01 Epub Date: 2024-07-23 DOI: 10.1016/S1474-4422(24)00284-9
Susanne Petri
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引用次数: 0
Durable benefit of thrombectomy 6-24 h after stroke onset. 中风发作 6-24 小时后血栓切除术的持久疗效。
IF 46.5 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-01 Epub Date: 2024-06-20 DOI: 10.1016/S1474-4422(24)00261-8
Bruce C V Campbell
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引用次数: 0
Amyloid β, γ-secretase, and familial Alzheimer's disease. 淀粉样蛋白β、γ-分泌酶和家族性阿尔茨海默病。
IF 46.5 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-01 Epub Date: 2024-07-26 DOI: 10.1016/S1474-4422(24)00292-8
Marie-Claude Potier, Harald Steiner, Lucía Chávez-Gutiérrez
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引用次数: 0
Endovascular thrombectomy for acute ischaemic stroke with established large infarct (TENSION): 12-month outcomes of a multicentre, open-label, randomised trial. 大面积梗死急性缺血性中风的血管内血栓切除术(TENSION):一项多中心、开放标签、随机试验的 12 个月结果。
IF 46.5 1区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-01 Epub Date: 2024-07-26 DOI: 10.1016/S1474-4422(24)00278-3
Götz Thomalla, Jens Fiehler, Fabien Subtil, Susanne Bonekamp, Anne Hege Aamodt, Blanca Fuentes, Elke R Gizewski, Michael D Hill, Antonin Krajina, Laurent Pierot, Claus Z Simonsen, Kamil Zeleňák, Rolf A Blauenfeldt, Bastian Cheng, Angélique Denis, Hannes Deutschmann, Franziska Dorn, Fabian Flottmann, Susanne Gellißen, Johannes C Gerber, Mayank Goyal, Jozef Haring, Christian Herweh, Silke Hopf-Jensen, Vi Tuan Hua, Märit Jensen, Andreas Kastrup, Christiane Fee Keil, Andrej Klepanec, Egon Kurča, Ronni Mikkelsen, Markus Möhlenbruch, Stefan Müller-Hülsbeck, Nico Münnich, Paolo Pagano, Panagiotis Papanagiotou, Gabor C Petzold, Mirko Pham, Volker Puetz, Jan Raupach, Gernot Reimann, Peter Arthur Ringleb, Maximilian Schell, Eckhard Schlemm, Silvia Schönenberger, Bjørn Tennøe, Christian Ulfert, Kateřina Vališ, Eva Vítková, Dominik F Vollherbst, Wolfgang Wick, Martin Bendszus

Background: Long-term data showing the benefits of endovascular thrombectomy for stroke with large infarct are scarce. The TENSION trial showed the safety and efficacy of endovascular thrombectomy in patients with ischaemic stroke and large infarct at 90 days. We aimed to investigate the safety and efficacy at 12 months of endovascular thrombectomy in patients who were enrolled in the TENSION trial.

Methods: TENSION was an open-label, blinded endpoint, randomised trial done at 40 hospitals across Europe and one hospital in Canada. We included patients (aged ≥18 years) with acute ischaemic stroke due to large vessel occlusion in the anterior circulation and who had a large infarct, as indicated by an Alberta Stroke Program Early Computed Tomographic Score (ASPECTS) of 3-5 on standard-of-care stroke imaging. We randomly assigned patients (1:1) to receive either endovascular thrombectomy with medical treatment or medical treatment only up to 12 h from stroke onset. The primary outcome was functional outcome across the entire range of the modified Rankin Scale at 90 days. Here, we report the prespecified 12-month follow-up analyses for functional outcome (using the simplified modified Rankin Scale questionnaire), quality of life (using the Patient-Reported Outcomes Measurement Information System 10-item [PROMIS-10] and EQ-5D questionnaires), post-stroke anxiety and depression (using the Patient Health Questionnaire-4 [PHQ-4]), and overall survival. Outcomes (except survival) were assessed in the intention-to-treat population; the survival analysis was based on treatment received. This trial is registered with ClinicalTrials.gov, NCT03094715, and is completed.

Findings: We enrolled patients between July 17, 2018, and Feb 21, 2023, when the trial was stopped early for efficacy. 253 patients were randomly assigned, 125 (49%) to endovascular thrombectomy and 128 (51%) to medical treatment only. Median follow-up was 8·36 months (IQR 0·02-12·00). Endovascular thrombectomy was associated with a shift in the distribution of scores on the modified Rankin Scale towards better functional outcome at 12 months (adjusted common odds ratio 2·39 [95% CI 1·47-3·90]). Endovascular thrombectomy was also associated with a better quality of life compared with medical treatment only, as reflected by median scores on the EQ-5D questionnaire index (0·7 [IQR 0·4-0·9] vs 0·4 [0·2-0·7]), median scores for health status on the EQ-5D questionnaire visual analogue scale (50 [IQR 35-70] vs 30 [5-60]), and median global physical health scores on the PROMIS-10 questionnaire (T-score 39·8 [IQR 37·4-50·8] vs 37·4 [32·4-44·9]); although there was not enough evidence to suggest a difference between groups in global mental health scores on PROMIS-10 (41·1 [IQR 36·3-48·3] vs 38·8 [31·3-44·7]) or the numbers of patients reporting anxiety (13 [22%] of 58 vs 15 [42%] of 36) and depression (18 [31%] vs 18 [50%]) on PHQ-4. Overa

背景:显示血管内血栓切除术治疗脑卒中合并大面积脑梗死疗效的长期数据很少。TENSION 试验显示,血管内血栓切除术对缺血性脑卒中合并大面积脑梗死患者在 90 天内的安全性和有效性。我们的目的是研究参加 TENSION 试验的患者接受血管内血栓切除术 12 个月后的安全性和有效性:TENSION是一项开放标签、终点盲法、随机试验,在欧洲的40家医院和加拿大的一家医院进行。我们纳入了因前循环大血管闭塞而导致急性缺血性中风的患者(年龄≥18 岁),这些患者的脑梗死面积较大,阿尔伯塔省中风项目早期计算机断层扫描评分(ASPECTS)为 3-5 分。我们随机分配患者(1:1)接受血管内血栓切除术和药物治疗,或在中风发生后 12 小时内仅接受药物治疗。主要结果是 90 天后改良 Rankin 量表的整个范围内的功能结果。在此,我们报告预设的 12 个月随访分析,包括功能预后(使用简化的改良 Rankin 量表问卷)、生活质量(使用患者报告结果测量信息系统 10 项 [PROMIS-10] 和 EQ-5D 问卷)、卒中后焦虑和抑郁(使用患者健康问卷-4 [PHQ-4])以及总生存率。结果(生存期除外)在意向治疗人群中进行评估;生存期分析基于接受的治疗。该试验已在ClinicalTrials.gov(NCT03094715)注册,并已完成:我们在 2018 年 7 月 17 日至 2023 年 2 月 21 日期间招募了患者,试验因疗效原因提前终止。253名患者被随机分配,其中125人(49%)接受血管内血栓切除术,128人(51%)仅接受药物治疗。中位随访时间为 8-36 个月(IQR 0-02-12-00)。在12个月时,血管内血栓切除术与改良Rankin量表评分分布向更好的功能预后转变有关(调整后的普通几率比2-39 [95% CI 1-47-3-90])。与单纯药物治疗相比,血管内血栓切除术也带来了更好的生活质量,EQ-5D问卷指数的中位数得分(0-7 [IQR 0-4-0-9] vs 0-4 [0-2-0-7])反映了这一点、EQ-5D问卷视觉模拟量表中健康状况的中位数分数(50 [IQR 35-70] vs 30 [5-60]),以及PROMIS-10问卷全球身体健康的中位数分数(T-score 39-8 [IQR 37-4-50-8] vs 37-4 [32-4-44-9]);虽然没有足够的证据表明两组患者在 PROMIS-10 的总体心理健康评分(41-1 [IQR 36-3-48-3] vs 38-8 [31-3-44-7])或 PHQ-4 上报告焦虑(58 例中的 13 [22%] vs 36 例中的 15 [42%])和抑郁(18 [31%] vs 18 [50%])的人数上存在差异。血管内血栓切除术组的总生存率略高于单纯药物治疗组(调整后危险比为 0-70 [95% CI 0-50-0-99]):对于大血管闭塞并已形成大面积梗死的急性缺血性卒中患者,与单纯药物治疗相比,血管内血栓切除术与卒中后 12 个月的功能预后、生活质量和总生存率相关。这些研究结果表明,血管内血栓切除术对缺血性中风和大面积脑梗塞患者的益处是长期持续的,因此支持在这些患者中使用血管内血栓切除术:欧盟地平线2020研究与创新计划。
{"title":"Endovascular thrombectomy for acute ischaemic stroke with established large infarct (TENSION): 12-month outcomes of a multicentre, open-label, randomised trial.","authors":"Götz Thomalla, Jens Fiehler, Fabien Subtil, Susanne Bonekamp, Anne Hege Aamodt, Blanca Fuentes, Elke R Gizewski, Michael D Hill, Antonin Krajina, Laurent Pierot, Claus Z Simonsen, Kamil Zeleňák, Rolf A Blauenfeldt, Bastian Cheng, Angélique Denis, Hannes Deutschmann, Franziska Dorn, Fabian Flottmann, Susanne Gellißen, Johannes C Gerber, Mayank Goyal, Jozef Haring, Christian Herweh, Silke Hopf-Jensen, Vi Tuan Hua, Märit Jensen, Andreas Kastrup, Christiane Fee Keil, Andrej Klepanec, Egon Kurča, Ronni Mikkelsen, Markus Möhlenbruch, Stefan Müller-Hülsbeck, Nico Münnich, Paolo Pagano, Panagiotis Papanagiotou, Gabor C Petzold, Mirko Pham, Volker Puetz, Jan Raupach, Gernot Reimann, Peter Arthur Ringleb, Maximilian Schell, Eckhard Schlemm, Silvia Schönenberger, Bjørn Tennøe, Christian Ulfert, Kateřina Vališ, Eva Vítková, Dominik F Vollherbst, Wolfgang Wick, Martin Bendszus","doi":"10.1016/S1474-4422(24)00278-3","DOIUrl":"10.1016/S1474-4422(24)00278-3","url":null,"abstract":"<p><strong>Background: </strong>Long-term data showing the benefits of endovascular thrombectomy for stroke with large infarct are scarce. The TENSION trial showed the safety and efficacy of endovascular thrombectomy in patients with ischaemic stroke and large infarct at 90 days. We aimed to investigate the safety and efficacy at 12 months of endovascular thrombectomy in patients who were enrolled in the TENSION trial.</p><p><strong>Methods: </strong>TENSION was an open-label, blinded endpoint, randomised trial done at 40 hospitals across Europe and one hospital in Canada. We included patients (aged ≥18 years) with acute ischaemic stroke due to large vessel occlusion in the anterior circulation and who had a large infarct, as indicated by an Alberta Stroke Program Early Computed Tomographic Score (ASPECTS) of 3-5 on standard-of-care stroke imaging. We randomly assigned patients (1:1) to receive either endovascular thrombectomy with medical treatment or medical treatment only up to 12 h from stroke onset. The primary outcome was functional outcome across the entire range of the modified Rankin Scale at 90 days. Here, we report the prespecified 12-month follow-up analyses for functional outcome (using the simplified modified Rankin Scale questionnaire), quality of life (using the Patient-Reported Outcomes Measurement Information System 10-item [PROMIS-10] and EQ-5D questionnaires), post-stroke anxiety and depression (using the Patient Health Questionnaire-4 [PHQ-4]), and overall survival. Outcomes (except survival) were assessed in the intention-to-treat population; the survival analysis was based on treatment received. This trial is registered with ClinicalTrials.gov, NCT03094715, and is completed.</p><p><strong>Findings: </strong>We enrolled patients between July 17, 2018, and Feb 21, 2023, when the trial was stopped early for efficacy. 253 patients were randomly assigned, 125 (49%) to endovascular thrombectomy and 128 (51%) to medical treatment only. Median follow-up was 8·36 months (IQR 0·02-12·00). Endovascular thrombectomy was associated with a shift in the distribution of scores on the modified Rankin Scale towards better functional outcome at 12 months (adjusted common odds ratio 2·39 [95% CI 1·47-3·90]). Endovascular thrombectomy was also associated with a better quality of life compared with medical treatment only, as reflected by median scores on the EQ-5D questionnaire index (0·7 [IQR 0·4-0·9] vs 0·4 [0·2-0·7]), median scores for health status on the EQ-5D questionnaire visual analogue scale (50 [IQR 35-70] vs 30 [5-60]), and median global physical health scores on the PROMIS-10 questionnaire (T-score 39·8 [IQR 37·4-50·8] vs 37·4 [32·4-44·9]); although there was not enough evidence to suggest a difference between groups in global mental health scores on PROMIS-10 (41·1 [IQR 36·3-48·3] vs 38·8 [31·3-44·7]) or the numbers of patients reporting anxiety (13 [22%] of 58 vs 15 [42%] of 36) and depression (18 [31%] vs 18 [50%]) on PHQ-4. Overa","PeriodicalId":17989,"journal":{"name":"Lancet Neurology","volume":null,"pages":null},"PeriodicalIF":46.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792804","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}
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Lancet Neurology
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