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Utility of automated CT perfusion software in acute ischemic stroke with large and medium vessel occlusion. 自动 CT 灌注软件在大血管和中血管闭塞的急性缺血性中风中的应用。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-07 DOI: 10.1002/acn3.52207
Rezan Ashayeri Ahmadabad, Kim H Tran, Yiran Zhang, Mahesh P Kate, Sachin Mishra, Brian H Buck, Khurshid A Khan, Jeremy Rempel, Gregory W Albers, Ashfaq Shuaib

Background: Early diagnosis of large vessel occlusion (LVO) in acute stroke often requires CT angiography (CTA). Automated CT perfusion (CTP) software, which identifies blood flow abnormalities, enhances LVO diagnosis and patient selection for endovascular thrombectomy (EVT). This study evaluates the sensitivity of automated CTP images in detecting perfusion abnormalities in patients with acute ischemic stroke (AIS) and LVO or medium vessel occlusion (MeVO), compared to CTA.

Methods: We screened acute ischemic stroke patients presenting within 24 h who underwent CT, CTA, and CTP as per institutional protocol. RAPID AI software processed CTP images, while neuroradiologists reviewed CTA for intracranial arterial occlusions. Sensitivity, specificity, and accuracy of automated CTP maps in detecting occlusions were assessed.

Results: Of 790 screened patients, 31 were excluded due to lack of RAPID CTP data or poor-quality scans, leaving 759 for analysis. The median age was 71 years (IQR: 61-81), with 47% female. Among them, 678 had AIS, and 81 had AIS ruled out. CTA identified arterial occlusion in 562 patients (74%), with corresponding CTP abnormalities in 537 patients (Tmax > 6 sec). In the 197 without occlusion, CTP was negative in 161. Automated CTP maps had a sensitivity of 95.55% (CI 95: 93.50-97.10%), specificity of 81.73% (CI 95: 75.61-86.86%), negative predictive value of 98.22% (CI 95: 97.39-98.79%), positive predictive value of 63.54% (CI 95: 56.46-70.09%), and overall accuracy of 85.18% (CI 95: 82.45-87.64%).

Conclusions: Automated CTP maps demonstrated high sensitivity and negative predictive value for LVOs and MeVOs, suggesting their usefulness as a rapid diagnostic tool, especially in settings without expert neuroradiologists.

背景:急性中风大血管闭塞(LVO)的早期诊断通常需要 CT 血管造影术(CTA)。自动 CT 灌注(CTP)软件可识别血流异常,从而加强 LVO 诊断和血管内血栓切除术(EVT)的患者选择。与 CTA 相比,本研究评估了自动 CTP 图像在检测急性缺血性卒中(AIS)和 LVO 或中血管闭塞(MeVO)患者灌注异常方面的灵敏度:我们筛选了 24 小时内就诊的急性缺血性脑卒中患者,这些患者按照机构规定接受了 CT、CTA 和 CTP 检查。RAPID AI 软件处理 CTP 图像,而神经放射科医生则对 CTA 进行颅内动脉闭塞检查。对自动 CTP 图检测闭塞的敏感性、特异性和准确性进行了评估:在 790 名接受筛查的患者中,31 人因缺乏 RAPID CTP 数据或扫描质量不佳而被排除,剩下 759 人接受分析。中位年龄为 71 岁(IQR:61-81),女性占 47%。其中 678 人患有 AIS,81 人排除了 AIS。CTA 发现 562 名患者(74%)存在动脉闭塞,537 名患者存在相应的 CTP 异常(Tmax > 6 秒)。在 197 名没有闭塞的患者中,161 人的 CTP 为阴性。自动 CTP 地图的敏感性为 95.55%(CI 95:93.50-97.10%),特异性为 81.73%(CI 95:75.61-86.86%),阴性预测值为 98.22%(CI 95:97.39-98.79%),阳性预测值为 63.54%(CI 95:56.46-70.09%),总体准确性为 85.18%(CI 95:82.45-87.64%):自动CTP图显示了对LVOs和MeVOs的高灵敏度和阴性预测值,表明其作为快速诊断工具的实用性,尤其是在没有神经放射专家的情况下。
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引用次数: 0
Correction to Impact of paramagnetic rim lesions on disability and race in multiple sclerosis: mediation analysis. 更正为《顺磁性边缘病变对多发性硬化症患者残疾和种族的影响:中介分析》。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-07 DOI: 10.1002/acn3.52223
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引用次数: 0
Overlap of spike and ripple propagation onset predicts surgical outcome in epilepsy 尖峰和波纹传播起始时间的重叠可预测癫痫的手术效果。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-07 DOI: 10.1002/acn3.52156
Saeed Jahromi, Margherita A.G. Matarrese, Lorenzo Fabbri, Eleonora Tamilia, M. Scott Perry, Joseph R. Madsen, Jeffrey Bolton, Scellig S.D. Stone, Phillip L. Pearl, Christos Papadelis

Objective

Interictal biomarkers are critical for identifying the epileptogenic focus. However, spikes and ripples lack specificity while fast ripples lack sensitivity. These biomarkers propagate from more epileptogenic onset to areas of spread. The pathophysiological mechanism of these propagations is elusive. Here, we examine zones where spikes and high frequency oscillations co-occur (SHFO), the spatiotemporal propagations of spikes, ripples, and fast ripples, and evaluate the spike–ripple onset overlap (SRO) as an epilepsy biomarker.

Methods

We retrospectively analyzed intracranial EEG data from 41 patients with drug-resistant epilepsy. We mapped propagations of spikes, ripples, and fast ripples, and identified their onset and spread zones, as well as SHFO and SRO. We then estimated the SRO prognostic value in predicting surgical outcome and compared it to onset and spread zones of spike, ripple, and fast ripple propagations, and SHFO.

Results

We detected spikes and ripples in all patients and fast ripples in 12 patients (29%). We observed spike and ripple propagations in 40 (98%) patients. Spike and ripple onsets overlapped in 35 (85%) patients. In good outcome patients, SRO showed higher specificity and precision (p < 0.05) in predicting resection compared to onset and zones of spikes, ripples, and SHFO. Only SRO resection predicted outcome (p = 0.01) with positive and negative predictive values of 82% and 57%, respectively.

Interpretation

SRO is a specific and precise biomarker of the epileptogenic zone whose removal predicts outcome. SRO is present in most patients with drug-resistant epilepsy. Such a biomarker may reduce prolonged intracranial monitoring and improve outcome.

目的:发作间期生物标志物对确定致痫灶至关重要。然而,尖波和波纹缺乏特异性,而快速波纹缺乏敏感性。这些生物标志物从更多的致痫起始点传播到扩散区域。这些传播的病理生理学机制尚不明确。在此,我们研究了尖峰和高频振荡共存区(SHFO)、尖峰、波纹和快速波纹的时空传播,并评估了作为癫痫生物标志物的尖峰-波纹起始重叠(SRO):我们回顾性分析了 41 名耐药性癫痫患者的颅内脑电图数据。我们绘制了尖峰、波纹和快速波纹的传播图,并确定了它们的起始区和扩散区,以及 SHFO 和 SRO。然后,我们估算了 SRO 在预测手术结果方面的预后价值,并将其与尖波、波纹和快速波纹传播的起始区和扩散区以及 SHFO 进行了比较:我们在所有患者中检测到尖峰和波纹,在 12 名患者(29%)中检测到快速波纹。我们在 40 名患者(98%)中观察到了尖峰和波纹传播。在 35 名患者(85%)中,尖峰和波纹的起始点重叠。在预后良好的患者中,SRO 显示出更高的特异性和精确性(p 解释:SRO 是一种特异性和精确性很高的生物检测方法:SRO 是致痫区的特异性和精确性生物标志物,去除它可预测预后。大多数耐药性癫痫患者都存在 SRO。这种生物标志物可减少长时间的颅内监测并改善预后。
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引用次数: 0
Variability of cortico-cortical evoked potentials in the epileptogenic zone is related to seizure occurrence 致痫区皮质-皮质诱发电位的变化与癫痫发作有关。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-06 DOI: 10.1002/acn3.52179
Odile Feys, Vincent Wens, Sophie Schuind, Estelle Rikir, Benjamin Legros, Xavier De Tiège, Nicolas Gaspard

Introduction

Cortico-cortical evoked potentials (CCEPs) were described as reproducible during trains of single-pulse electrical stimulations (SPES). Still, few studies described a variability of CCEPs that was higher within the epileptogenic zone (EZ). This study aimed at characterizing the relationship of CCEP variability with the occurrence of interictal/ictal epileptiform discharges at the temporal vicinity of the stimulation, but not during the stimulation, by effective connectivity modifications.

Methods

We retrospectively included 20 patients who underwent SPES during their stereo-electroencephalography (SEEG). We analyzed the variability of CCEPs by using the post-stimulation time course of intertrial standard deviation (amplitude) and the timing of peak amplitude signal of CCEP epochs (latency). Values were corrected for the Euclidian distance between stimulating/recording electrodes. Receiver operating characteristics curves were used to assess the relationship with the EZ. The link between CCEP variability and interictal discharges occurrence, seizure frequency prior to the SEEG recording, and number of seizures during SEEG recording was assessed with Spearman's correlations.

Results

A relationship was demonstrated between the EZ and both the distance-corrected latency variation (area under the curve (AUC): 0.73–0.74) and the distance-corrected amplitude variation (AUC: 0.71–0.72) and both were related with the occurrence of seizures.

Conclusion

Seizures before/during SEEG impact the dynamics of effective connectivity within the epileptogenic network by reducing the variability of CCEP latency/amplitude when the seizure frequency increases. It suggests a strengthening of the epileptogenic network with the occurrence of many seizures. These findings stress the importance of early epilepsy surgery at a time when the network organization has not yet been complete.

简介皮层诱发电位(CCEPs)在单脉冲电刺激(SPES)过程中具有可重复性。然而,很少有研究描述在致痫区(EZ)内 CCEPs 的变异性更高。本研究旨在通过有效的连接性修饰,描述 CCEP 变异性与刺激颞区附近发作间期/发作期痫样放电发生的关系,而不是刺激期间的关系:我们回顾性地纳入了 20 名在立体脑电图 (SEEG) 期间接受 SPES 的患者。我们使用刺激后时间过程中的试验间标准偏差(振幅)和 CCEP 时程的峰值振幅信号时间(潜伏期)分析了 CCEP 的变异性。根据刺激/记录电极之间的欧几里得距离对数值进行了校正。使用接收者操作特征曲线来评估与 EZ 的关系。用 Spearman 相关性评估了 CCEP 变异性与发作间期放电发生率、SEEG 记录前的发作频率和 SEEG 记录期间的发作次数之间的联系:结果:EZ 与距离校正潜伏期变异(曲线下面积 (AUC):结果:EZ 与距离校正潜伏期变化(曲线下面积(AUC):0.73-0.74)和距离校正振幅变化(AUC:0.71-0.72)之间存在关系,且两者均与癫痫发作有关:结论:当癫痫发作频率增加时,发作前/SEEG期间的癫痫发作会降低CCEP潜伏期/振幅的变异性,从而影响致痫网络内有效连通性的动态变化。这表明随着癫痫多次发作,致痫网络会得到加强。这些发现强调了在网络组织尚未完成时尽早进行癫痫手术的重要性。
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引用次数: 0
Stroke-like episodes in patients with adult-onset neuronal intranuclear inclusion disease and patients with late-onset MELAS: A comparative study. 成人型神经元核内包涵体病患者和晚发型 MELAS 患者的中风样发作:一项比较研究。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-04 DOI: 10.1002/acn3.52219
Yuzhi Shi, Gehong Dong, Hua Pan, Hongfei Tai, Yi Zhou, An Wang, Songtao Niu, Bin Chen, Xingao Wang, Zaiqiang Zhang

Objective: To delineate the characteristics of stroke-like episodes (SLEs) in patients with adult-onset neuronal intranuclear inclusion disease (NIID) and to compare these characteristics with those of patients with MELAS.

Methods: Twenty-three adult-onset NIID patients who presented with acute or subacute brain disorders and 13 late-onset MELAS patients were enrolled in the study. Patients with NIID were categorized into the SLEs group and the encephalopathy-like episodes (ELEs) group according to the associated stroke-like lesions (SLLs) findings. Clinical characteristics were compared between the SLEs group and the ELEs group among NIID patients and between NIID patients with SLEs and MELAS patients.

Results: Eleven (47.8%) NIID patients who manifested acute or subacute brain disorders had detectable associated SLLs and were categorized into SLEs group. SLEs patients were more likely to report fever, headache, and seizures instead of sleep disorders than ELEs patients. Four (36.4%) NIID patients with SLEs absence of diagnostic or suggestive NIID imaging features. The clinical manifestations, laboratory test results, and neuroimaging and muscle biopsy histological features of NIID patients with SLEs majorly overlapped with those of late-onset MELAS patients. Older age at the first SLE (OR [95% CI], 1.203 [1.045-1.384]), symptoms of movement disorders on admission (OR [95% CI], 9.625 [1.378-67.246]), and white matter hyperintensity in corpus callosum (OR [95% CI], 16.00 [1.542-166.46]) associated with the NIID diagnosis in patients with SLEs.

Interpretation: NIID patients with SLEs exhibit evident features of mitochondrial disorders. Interventions aimed at mitochondrial dysfunction might be a promising therapeutic approach for treating this disease.

目的描述成年型神经元核内包涵体病(NIID)患者中风样发作(SLE)的特征,并将这些特征与MELAS患者的特征进行比较:研究共招募了 23 名出现急性或亚急性脑部疾病的成年 NIID 患者和 13 名晚期 MELAS 患者。根据相关的卒中样病变(SLLs)结果,NIID 患者被分为 SLEs 组和脑病样发作(ELEs)组。比较了 NIID 患者中系统性红斑狼疮组和 ELEs 组的临床特征,以及 NIID 系统性红斑狼疮患者和 MELAS 患者的临床特征:结果:11 名(47.8%)表现为急性或亚急性脑部疾病的 NIID 患者可检测到相关的 SLLs,并被归入 SLEs 组。与ELEs患者相比,SLEs患者更有可能报告发热、头痛和癫痫发作,而不是睡眠障碍。四名(36.4%)患有系统性红斑狼疮的 NIID 患者没有诊断性或提示性 NIID 影像特征。NIID系统性红斑狼疮患者的临床表现、实验室检查结果、神经影像学和肌肉活检组织学特征与晚发性MELAS患者的临床表现、实验室检查结果、神经影像学和肌肉活检组织学特征基本重合。首次患系统性红斑狼疮的年龄较大(OR [95%CI],1.203 [1.045-1.384])、入院时有运动障碍症状(OR [95%CI],9.625 [1.378-67.246])、胼胝体白质高密度(OR [95%CI],16.00 [1.542-166.46])与系统性红斑狼疮患者的 NIID 诊断有关:解读:NIID 系统性红斑狼疮患者表现出明显的线粒体紊乱特征。针对线粒体功能障碍的干预措施可能是治疗这种疾病的一种很有前景的方法。
{"title":"Stroke-like episodes in patients with adult-onset neuronal intranuclear inclusion disease and patients with late-onset MELAS: A comparative study.","authors":"Yuzhi Shi, Gehong Dong, Hua Pan, Hongfei Tai, Yi Zhou, An Wang, Songtao Niu, Bin Chen, Xingao Wang, Zaiqiang Zhang","doi":"10.1002/acn3.52219","DOIUrl":"https://doi.org/10.1002/acn3.52219","url":null,"abstract":"<p><strong>Objective: </strong>To delineate the characteristics of stroke-like episodes (SLEs) in patients with adult-onset neuronal intranuclear inclusion disease (NIID) and to compare these characteristics with those of patients with MELAS.</p><p><strong>Methods: </strong>Twenty-three adult-onset NIID patients who presented with acute or subacute brain disorders and 13 late-onset MELAS patients were enrolled in the study. Patients with NIID were categorized into the SLEs group and the encephalopathy-like episodes (ELEs) group according to the associated stroke-like lesions (SLLs) findings. Clinical characteristics were compared between the SLEs group and the ELEs group among NIID patients and between NIID patients with SLEs and MELAS patients.</p><p><strong>Results: </strong>Eleven (47.8%) NIID patients who manifested acute or subacute brain disorders had detectable associated SLLs and were categorized into SLEs group. SLEs patients were more likely to report fever, headache, and seizures instead of sleep disorders than ELEs patients. Four (36.4%) NIID patients with SLEs absence of diagnostic or suggestive NIID imaging features. The clinical manifestations, laboratory test results, and neuroimaging and muscle biopsy histological features of NIID patients with SLEs majorly overlapped with those of late-onset MELAS patients. Older age at the first SLE (OR [95% CI], 1.203 [1.045-1.384]), symptoms of movement disorders on admission (OR [95% CI], 9.625 [1.378-67.246]), and white matter hyperintensity in corpus callosum (OR [95% CI], 16.00 [1.542-166.46]) associated with the NIID diagnosis in patients with SLEs.</p><p><strong>Interpretation: </strong>NIID patients with SLEs exhibit evident features of mitochondrial disorders. Interventions aimed at mitochondrial dysfunction might be a promising therapeutic approach for treating this disease.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142374733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Evaluating post-thrombectomy effective connectivity changes in anterior circulation stroke. 评估血栓切除术后前循环中风的有效连接性变化。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-04 DOI: 10.1002/acn3.52221
Jiaona Xu, Weiwei Chen, Guozhong Niu, Yuting Meng, Kefan Qiu, Tongyue Li, Luoyu Wang, Liqing Zhang, Yating Lv, Zhongxiang Ding

Objective: Granger causal analysis (GCA) and amplitude of low-frequency fluctuation (ALFF) are commonly used to evaluate functional alterations in brain disorders. By combining the GCA and ALFF, this study aimed to investigate the effective connectivity (EC) changes in patients with acute ischemic stroke (AIS) and anterior circulation occlusion after mechanical thrombectomy (MT).

Methods: Resting-state functional magnetic resonance imaging (rs-fMRI) data were collected from 43 AIS patients with anterior circulation occlusion within 1 week post-MT and 37 healthy controls. ALFF and GCA were calculated for each participant. Patients were further divided into groups based on prognosis and perfusion levels. The differences in ALFF and EC were compared between AIS patients and healthy controls and between subgroups of patients. Pearson correlations between EC, ALFF values, and clinical characteristics of patients were calculated.

Results: Compared to healthy controls, post-MT, AIS patients exhibited significant ALFF increases in the left precuneus and decreases in the left fusiform gyrus and right caudate. Increased EC from the contralesional lingual gyrus, contralesional putamen, ipsilesional thalamus, and contralesional thalamus to the contralesional caudate was obsrved, while decrease in EC were found for contralesional caudate to the ipsilesional thalamus and medial superior frontal gyrus. EC differences were particularly notable between perfusion groups, with significantly lower EC in the poorly perfused group. EC values were also positively correlated with National Institutes of Health Stroke Scale (NIHSS) scores pre-MT.

Interpretation: In AIS patients, the caudate nucleus was central to the observed EC changes post-MT, characterized by decreased outputs and increased inputs. These changes indicate functional remodeling within the cortico-basal ganglia-thalamic-cortical pathway.

目的:格兰杰因果分析(GCA)和低频波动振幅(ALFF)常用于评估脑部疾病的功能性改变。本研究旨在结合格兰杰因果分析法和低频波动振幅法,研究急性缺血性脑卒中(AIS)和前循环闭塞患者在机械性血栓切除术(MT)后的有效连接性(EC)变化:收集了 43 名急性缺血性脑卒中(AIS)前循环闭塞患者和 37 名健康对照者的静息态功能磁共振成像(rs-fMRI)数据。计算了每位患者的 ALFF 和 GCA。根据预后和灌注水平将患者进一步分组。比较了 AIS 患者和健康对照组之间以及患者亚组之间 ALFF 和 EC 的差异。计算了EC、ALFF值和患者临床特征之间的皮尔逊相关性:与健康对照组相比,MT后AIS患者左侧楔前回的ALFF显著增加,左侧纺锤形回和右侧尾状核的ALFF显著减少。从对侧舌回、对侧丘脑、丘脑同侧和对侧丘脑到对侧尾状体的EC增加,而从对侧尾状体到丘脑同侧和内侧额上回的EC减少。灌注组之间的导电率差异尤为明显,灌注不良组的导电率明显较低。EC值还与MT前美国国立卫生研究院卒中量表(NIHSS)评分呈正相关:在AIS患者中,尾状核是观察到的MT后EC变化的中心,其特点是输出减少而输入增加。这些变化表明皮质-基底节-丘脑-皮质通路发生了功能重塑。
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引用次数: 0
Academic outcomes before and after clinical onset of acquired demyelinating syndromes in children: a matched cohort data linkage study. 儿童获得性脱髓鞘综合征临床发病前后的学习成绩:一项匹配队列数据关联研究。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-02 DOI: 10.1002/acn3.52198
Michael Eyre, Michael Absoud, Omar Abdel-Mannan, Sarah Crichton, Yael Hacohen, Thomas Rossor, Sarah Rudebeck, Gavin Giovannoni, Ming Lim, Cheryl Hemingway

It is unknown if cognition is impaired before clinical onset of paediatric acquired demyelinating syndromes. We conducted a matched cohort study using prospectively collected educational data in multiple sclerosis (MS) and myelin oligodendrocyte glycoprotein antibody disease (MOGAD) patients (n = 60) and controls (pooled n = 449,553). Academic performance at ages 10-11 was impaired in MOGAD (-1.27 adjusted z-score [95% CI: -1.81 to -0.73], P < 0.001) and preclinical MS (-0.40 [-0.80 to -0.0003], P = 0.0498). Moderate/high-efficacy MS treatment was associated with better final academic performance (0.92 [0.28-1.57], P = 0.005). After clinical onset MS patients missed 8.7% of school (controls 2.9%, P < 0.001) and MOGAD patients 11.9% (controls 2.0%, P < 0.001).

在儿科获得性脱髓鞘综合征临床发病之前,认知能力是否会受损尚不清楚。我们利用前瞻性收集的教育数据,对多发性硬化症(MS)和髓鞘少突胶质细胞糖蛋白抗体病(MOGAD)患者(n = 60)和对照组(合计 n = 449,553 人)进行了一项匹配队列研究。多发性硬化症和髓鞘少突胶质细胞糖蛋白抗体病(MOGAD)患者 10-11 岁时的学习成绩受损(调整后 Z 评分为-1.27 [95% CI:-1.81 至-0.73],P<0.05)。
{"title":"Academic outcomes before and after clinical onset of acquired demyelinating syndromes in children: a matched cohort data linkage study.","authors":"Michael Eyre, Michael Absoud, Omar Abdel-Mannan, Sarah Crichton, Yael Hacohen, Thomas Rossor, Sarah Rudebeck, Gavin Giovannoni, Ming Lim, Cheryl Hemingway","doi":"10.1002/acn3.52198","DOIUrl":"https://doi.org/10.1002/acn3.52198","url":null,"abstract":"<p><p>It is unknown if cognition is impaired before clinical onset of paediatric acquired demyelinating syndromes. We conducted a matched cohort study using prospectively collected educational data in multiple sclerosis (MS) and myelin oligodendrocyte glycoprotein antibody disease (MOGAD) patients (n = 60) and controls (pooled n = 449,553). Academic performance at ages 10-11 was impaired in MOGAD (-1.27 adjusted z-score [95% CI: -1.81 to -0.73], P < 0.001) and preclinical MS (-0.40 [-0.80 to -0.0003], P = 0.0498). Moderate/high-efficacy MS treatment was associated with better final academic performance (0.92 [0.28-1.57], P = 0.005). After clinical onset MS patients missed 8.7% of school (controls 2.9%, P < 0.001) and MOGAD patients 11.9% (controls 2.0%, P < 0.001).</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142363564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
The prevalence of neuropsychiatric symptoms and correlation with MRI findings in CADASIL patients. CADASIL患者神经精神症状的发生率及其与磁共振成像结果的相关性。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-30 DOI: 10.1002/acn3.52214
Li Bai, HaoTian Yan, Yu Guo, Yong Shan, Qing Peng, Haiqiang Jin, Yunchuang Sun, Fan Li, Wei Sun, Wei Zhang, Zihao Zhang, Zhaoxia Wang, Yun Yuan, Chen Ling

Objective: To assess the prevalence, timing, and functional impact of neuropsychiatric symptoms in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to assess whether these neuropsychiatric symptoms are associated with magnetic resonance imaging (MRI) features of the patients.

Methods: Our study included a total of 78 patients with CADASIL. To assess neuropsychiatric symptoms, we evaluated the caregivers using the Neuropsychiatric Inventory (NPI). Patients were considered to have an irritability, depression, apathy, aggression, or anxiety disorder if they scored ≥1 in the NPI. Subsequently, we conducted a more detailed assessment of irritability, depression, apathy, aggression, and anxiety. Multivariate logistic regression was employed to analyze the relationships between neuropsychiatric symptoms and clinical/MRI features in the patients.

Results: Overall, 57.69% of patients with CADASIL experienced neuropsychiatric symptoms. Among these symptoms, irritability was the most prevalent (52.56%), followed by depression (19.23%), apathy (17.95%), aggression (7.69%), and anxiety (6.41%). The mean age of onset for irritability was the youngest, followed by anxiety, apathy, aggression, and depression. Among patients with both stroke/TIA and neuropsychiatric symptoms, 31.03% reported experiencing neuropsychiatric symptoms prior to stroke/TIA. Furthermore, both irritability and apathy had a negative impact on the patients' daily functioning. Additionally, there was a correlation between the presence of neuropsychiatric symptoms and the patients' MRI lesion burden.

Interpretation: Our study has discovered that neuropsychiatric symptoms are highly prevalent in patients with CADASIL and may occur before cerebrovascular events, suggesting that neuropsychiatric symptoms of CADASIL deserve more attention and earlier exploration.

目的评估大脑常染色体显性动脉病伴皮层下梗死和白质脑病(CADASIL)患者神经精神症状的发生率、发生时间和对功能的影响,并评估这些神经精神症状是否与患者的磁共振成像(MRI)特征相关:我们的研究共纳入 78 名 CADASIL 患者。为了评估神经精神症状,我们使用神经精神量表(NPI)对护理人员进行了评估。如果患者在 NPI 中得分≥1,则被认为患有易怒、抑郁、冷漠、攻击性或焦虑症。随后,我们对易怒、抑郁、冷漠、攻击性和焦虑进行了更详细的评估。我们采用多变量逻辑回归分析了患者的神经精神症状与临床/MRI特征之间的关系:总体而言,57.69%的CADASIL患者有神经精神症状。在这些症状中,最常见的是烦躁(52.56%),其次是抑郁(19.23%)、冷漠(17.95%)、攻击性(7.69%)和焦虑(6.41%)。易激惹的平均发病年龄最小,其次是焦虑、冷漠、攻击性和抑郁。在既有中风/TIA 又有神经精神症状的患者中,31.03% 的患者报告在中风/TIA 之前出现过神经精神症状。此外,易怒和冷漠对患者的日常功能有负面影响。此外,神经精神症状的存在与患者的磁共振成像病灶负荷之间存在相关性:我们的研究发现,神经精神症状在CADASIL患者中非常普遍,而且可能在脑血管事件之前就已出现,这表明CADASIL的神经精神症状值得更多关注和更早探讨。
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引用次数: 0
Dysphagia assessment in patients with multiple sclerosis - an additional piece to disability burden. 多发性硬化症患者的吞咽困难评估--残疾负担的附加部分。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-30 DOI: 10.1002/acn3.52206
Davide Ranucci, Fabrizia Falco, Valerio Nicolella, Cristina Di Monaco, Laura Migliaccio, Federica Lamagna, Federica Caracciolo, Martina Eliano, Maria Petracca, Marcello Moccia, Vincenzo Brescia Morra, Antonio Carotenuto, Roberta Lanzillo

Objective: People with multiple sclerosis (MS) might experience symptoms that are usually underestimated. Dysphagia should be evaluated within the Expanded Disability Status Scale (EDSS), but clinicians often do not assess it properly. The objectives of this study are as follows: To assess the prevalence of dysphagia in patients with MS utilizing the Swallowing Disturbance Questionnaire (SDQ); to examine the correlation with the EDSS; to investigate the relationship between dysphagia and clinico-demographic characteristics of MS.

Methods: In total, 177 MS patients underwent evaluations with EDSS, SDQ, cognitive functions, anxiety, depression, fatigue, and sleep quality tests. We compared clinico-demographic data of patients with and without dysphagia and native-EDSS to SDQ-EDSS.

Results: Out of the 177 MS patients, 56% of individuals were identified having dysphagia according to the SDQ with 41 patients exhibiting mild dysphagia, 31 showing moderate dysphagia and 27 patients having severe dysphagia. Only 6 patients had dysphagia recorded in the EDSS. SDQ-EDSS scores were significantly higher than native scores. Dysphagia was associated with depressive symptoms and sleep quality.

Interpretation: Dysphagia affects up to 56% of MS patients. The SDQ questionnaire is useful for identifying dysphagia, which can help in capturing disease progression and preventing complications like aspiration pneumonia. The SDQ-EDSS was higher than the native-EDSS, reflecting the poor ability of the native-EDSS to evaluate certain symptoms such as dysphagia. The SDQ correlated with depressive symptoms, which are associated with a greater perception of MS symptoms, and poor sleep quality, which could be associated with the triggering of pathogenic mechanisms responsible for disease progression.

目的多发性硬化症(MS)患者可能会出现一些通常被低估的症状。吞咽困难应在残疾状况扩展量表(EDSS)中进行评估,但临床医生通常不会对其进行正确评估。本研究的目的如下利用吞咽障碍问卷(SDQ)评估多发性硬化症患者吞咽困难的发生率;研究吞咽困难与 EDSS 的相关性;调查吞咽困难与多发性硬化症临床人口学特征之间的关系:共有 177 名多发性硬化症患者接受了 EDSS、SDQ、认知功能、焦虑、抑郁、疲劳和睡眠质量测试评估。我们比较了有吞咽困难和无吞咽困难患者的临床人口学数据,以及原生 EDSS 与 SDQ-EDSS 的比较:结果:在 177 名多发性硬化症患者中,56% 的人根据 SDQ 被确定患有吞咽困难,其中 41 名患者有轻度吞咽困难,31 名患者有中度吞咽困难,27 名患者有重度吞咽困难。只有 6 名患者在 EDSS 中记录有吞咽困难。SDQ-EDSS 评分明显高于本地评分。吞咽困难与抑郁症状和睡眠质量有关:吞咽困难影响了高达 56% 的多发性硬化症患者。SDQ 问卷有助于识别吞咽困难,这有助于捕捉疾病进展和预防吸入性肺炎等并发症。SDQ-EDSS高于本地EDSS,反映出本地EDSS评估吞咽困难等某些症状的能力较差。SDQ与抑郁症状和睡眠质量差相关,抑郁症状与多发性硬化症的症状感知有关,而睡眠质量差可能与引发疾病进展的致病机制有关。
{"title":"Dysphagia assessment in patients with multiple sclerosis - an additional piece to disability burden.","authors":"Davide Ranucci, Fabrizia Falco, Valerio Nicolella, Cristina Di Monaco, Laura Migliaccio, Federica Lamagna, Federica Caracciolo, Martina Eliano, Maria Petracca, Marcello Moccia, Vincenzo Brescia Morra, Antonio Carotenuto, Roberta Lanzillo","doi":"10.1002/acn3.52206","DOIUrl":"https://doi.org/10.1002/acn3.52206","url":null,"abstract":"<p><strong>Objective: </strong>People with multiple sclerosis (MS) might experience symptoms that are usually underestimated. Dysphagia should be evaluated within the Expanded Disability Status Scale (EDSS), but clinicians often do not assess it properly. The objectives of this study are as follows: To assess the prevalence of dysphagia in patients with MS utilizing the Swallowing Disturbance Questionnaire (SDQ); to examine the correlation with the EDSS; to investigate the relationship between dysphagia and clinico-demographic characteristics of MS.</p><p><strong>Methods: </strong>In total, 177 MS patients underwent evaluations with EDSS, SDQ, cognitive functions, anxiety, depression, fatigue, and sleep quality tests. We compared clinico-demographic data of patients with and without dysphagia and native-EDSS to SDQ-EDSS.</p><p><strong>Results: </strong>Out of the 177 MS patients, 56% of individuals were identified having dysphagia according to the SDQ with 41 patients exhibiting mild dysphagia, 31 showing moderate dysphagia and 27 patients having severe dysphagia. Only 6 patients had dysphagia recorded in the EDSS. SDQ-EDSS scores were significantly higher than native scores. Dysphagia was associated with depressive symptoms and sleep quality.</p><p><strong>Interpretation: </strong>Dysphagia affects up to 56% of MS patients. The SDQ questionnaire is useful for identifying dysphagia, which can help in capturing disease progression and preventing complications like aspiration pneumonia. The SDQ-EDSS was higher than the native-EDSS, reflecting the poor ability of the native-EDSS to evaluate certain symptoms such as dysphagia. The SDQ correlated with depressive symptoms, which are associated with a greater perception of MS symptoms, and poor sleep quality, which could be associated with the triggering of pathogenic mechanisms responsible for disease progression.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142337697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy. 给患有脊髓性肌萎缩症的早产儿服用奥那西莫金-阿贝帕沃韦克(Onasemnogene-abeparvovec)。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-28 DOI: 10.1002/acn3.52213
Stephen M Brown, Aparna S Ajjarapu, Divya Ramachandra, Laura Blasco-Pérez, Mar Costa-Roger, Eduardo F Tizzano, Charlotte J Sumner, Katherine D Mathews

Twin girls born at 30 weeks' gestation with spinal muscular atrophy (SMA) received onsasemnogene-abeparvovec (OA) at 3.5 weeks of life. They had no treatment-related adverse events, normal acquisition of motor milestones, and normal neurological examination at 19 months. Genotyping revealed 0 copies of SMN1 and a single, hybrid SMN2 gene containing the positive genetic modifier c.835-44A>G. This was associated with full-length SMN2 blood mRNA expression levels similar to a 2 copy SMA infant. The observed favorable outcomes are likely due to the genetic modifier combined with early drug administration enabled by prematurity.

妊娠30周时出生的患有脊髓性肌萎缩症(SMA)的双胞胎女孩在出生3.5周时接受了onsasemnogene-abeparvovec(OA)治疗。她们没有出现与治疗相关的不良反应,运动发育里程碑正常,19 个月时神经系统检查正常。基因分型结果显示,SMN1基因为0个拷贝,SMN2基因为单个杂合基因,含有阳性遗传修饰符c.835-44A>G。观察到的良好结果很可能是由于基因修饰因子与早产儿早期用药相结合的结果。
{"title":"Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.","authors":"Stephen M Brown, Aparna S Ajjarapu, Divya Ramachandra, Laura Blasco-Pérez, Mar Costa-Roger, Eduardo F Tizzano, Charlotte J Sumner, Katherine D Mathews","doi":"10.1002/acn3.52213","DOIUrl":"https://doi.org/10.1002/acn3.52213","url":null,"abstract":"<p><p>Twin girls born at 30 weeks' gestation with spinal muscular atrophy (SMA) received onsasemnogene-abeparvovec (OA) at 3.5 weeks of life. They had no treatment-related adverse events, normal acquisition of motor milestones, and normal neurological examination at 19 months. Genotyping revealed 0 copies of SMN1 and a single, hybrid SMN2 gene containing the positive genetic modifier c.835-44A>G. This was associated with full-length SMN2 blood mRNA expression levels similar to a 2 copy SMA infant. The observed favorable outcomes are likely due to the genetic modifier combined with early drug administration enabled by prematurity.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":null,"pages":null},"PeriodicalIF":4.4,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142337698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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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Annals of Clinical and Translational Neurology
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