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Fulminant leptomeningeal disease diagnosed as comutant H3F3A and FGFR diffuse midline glioma. 被诊断为H3F3A和FGFR合并弥漫性中线胶质瘤的恶性脑白质疾病。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-11-01 Epub Date: 2024-10-23 DOI: 10.1002/acn3.52180
Larysa Benistant, Damien Reita, Maleka Schenck, Vincent Castelain, Hélène Cebula, Benoît Lhermitte, Laura Bender

Diffuse midline gliomas present a particularly intricate and challenging clinical scenario. This rare case involves a patient with comutant H3F3A and FGFR diffuse midline glioma with a clinical presentation of fulminant leptomeningitis. A 22-year-old male presented with fatal and fulminant diffuse leptomeningitis. Next-generation sequencing of plasma and cerebrospinal circulating tumour DNA revealed diffuse midline gliomas with H3F3A and FGFR mutations. Methylome analysis of meningeal tissue collected during autopsy confirmed the diagnosis. Liquid biopsy plays a crucial role in the diagnosis of diffuse midline gliomas, mainly those with exclusively leptomeningeal presentations.

弥漫性中线胶质瘤的临床表现尤为复杂和具有挑战性。这例罕见病例涉及一名合并 H3F3A 和表皮生长因子受体(FGFR)弥漫性中线胶质瘤的患者,临床表现为暴发性脑脊髓膜炎。一名22岁的男性患者出现了致命的暴发性弥漫性脑脊髓膜炎。血浆和脑脊液循环肿瘤DNA的新一代测序显示弥漫性中线胶质瘤存在H3F3A和FGFR突变。尸检时收集的脑膜组织的甲基组分析证实了这一诊断。液体活检在诊断弥漫性中线胶质瘤(主要是那些仅有脑膜外表现的胶质瘤)中发挥着至关重要的作用。
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引用次数: 0
Scrambler therapy for treatment of poststroke pain. 治疗中风后疼痛的 Scrambler疗法。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-11-01 Epub Date: 2024-09-22 DOI: 10.1002/acn3.52201
Robert Stowell-Campos, Erin Lawrence, Elisabeth Breese Marsh, Dawn Merbach

Objective: Strokes involving sensory pathways can result in contralesional pain syndromes often refractory to pharmacologic interventions. Scrambler therapy (ST) is a noninvasive electroanalgesia device used to treat pain caused by peripheral neuropathy; however, data are scarce regarding its use in conditions secondary to central nervous system pathology. We evaluate the efficacy of ST to treat poststroke pain.

Methods: Twenty patients with a history of prior stroke resulting in contralesional pain were randomized to receive ST or Sham as an adjunct to their stable medication regimen. Participants underwent 5 consecutive daily 40-min sessions. The study was blinded to patient and assessor. Pain scores (0-10) were recorded at baseline, pre- and postsession, and 4 weeks after final treatment. Student's t-tests compared differences in the mean change in pain score between groups immediately post-treatment #5, and at 4-weeks. The chi-squared analysis compared the proportion of patients in each group with >50% pain reduction.

Results: Participants randomized to ST had a mean change in pain score of -3.73 (SD 2.85) postintervention and -2.57 (SD 2.07) at 4 weeks, while the Sham group had a mean change in score of -0.94 (SD 1.36) and -0.25 (SD 0.84) (p between groups = 0.012, 0.004, respectively). Significantly more participants treated with ST reported a >50% reduction in pain immediately postintervention compared to Sham (70% vs. 10%, p = 0.006), but not at follow-up (30% vs. 10%, p = ns).

Interpretation: ST may effectively decrease poststroke pain compared to Sham. Larger studies are needed to evaluate confounders such as stroke location, time from stroke, and concomitant treatment with medications.

目的:涉及感觉通路的中风可导致对侧疼痛综合征,而药物治疗往往难以奏效。Scrambler 疗法(ST)是一种非侵入性电镇痛设备,用于治疗由周围神经病变引起的疼痛;然而,有关其在继发于中枢神经系统病变的病症中的应用的数据却很少。我们评估了 ST 治疗中风后疼痛的疗效:方法:20 名既往中风导致对侧疼痛的患者随机接受 ST 或 Sham 作为稳定药物治疗的辅助治疗。参与者每天连续接受 5 次治疗,每次 40 分钟。该研究对患者和评估者均不设盲区。疼痛评分(0-10 分)在基线、疗程前和疗程后以及最终治疗后 4 周进行记录。学生 t 检验比较了治疗后 5 周和 4 周时各组疼痛评分平均变化的差异。卡方分析比较了各组疼痛减轻>50%的患者比例:随机接受 ST 治疗的患者在干预后疼痛评分的平均变化为-3.73(标准差为 2.85),4 周后疼痛评分的平均变化为-2.57(标准差为 2.07),而接受 Sham 治疗的患者在干预后疼痛评分的平均变化为-0.94(标准差为 1.36),4 周后疼痛评分的平均变化为-0.25(标准差为 0.84)(组间 p 分别为 0.012、0.004)。与 Sham 相比,接受 ST 治疗的患者在干预后疼痛立即减轻 50% 以上的人数显著增加(70% vs. 10%,P = 0.006),但在随访时没有增加(30% vs. 10%,P = ns):与 Sham 相比,ST 可有效减轻中风后疼痛。需要进行更大规模的研究,以评估中风位置、中风时间和同时接受药物治疗等混杂因素。
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引用次数: 0
Temporopolar blurring signifies abnormalities of white matter in mesial temporal lobe epilepsy. 颞极模糊是颞叶中叶癫痫白质异常的标志。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-11-01 Epub Date: 2024-09-28 DOI: 10.1002/acn3.52204
Yuming Li, Peiwen Liu, Qiuxing Lin, Wei Li, Yingying Zhang, Jinmei Li, Xiuli Li, Qiyong Gong, Heng Zhang, Luying Li, Xiutian Sima, Danyang Cao, Xiang Huang, Kailing Huang, Dong Zhou, Dongmei An

Objective: The single-center retrospective cohort study investigated underlying pathogenic mechanisms and clinical significance of patients with temporal lobe epilepsy and hippocampal sclerosis (TLE-HS), in the presence/absence of gray-white matter abnormalities (usually called "blurring"; GMB) in ipsilateral temporopolar region (TPR) on MRI.

Methods: The study involved 105 patients with unilateral TLE-HS (60 GMB+ and 45 GMB-) who underwent standard anterior temporal lobectomy, along with 61 healthy controls. Resected specimens were examined under light microscope. With combined T1-weighted and DTI data, we quantitatively compared large-scale morphometric features and exacted diffusion parameters of ipsilateral TPR-related superficial and deep white matter (WM) by atlas-based segmentation. Along-tract analysis was added to detect heterogeneous microstructural alterations at various points along deep WM tracts, which were categorized into inferior longitudinal fasciculus (ILF), uncinate fasciculus (UF), and temporal cingulum.

Results: Comparable seizure semiology and postoperative seizure outcome were found, while the GMB+ group had significantly higher rate of HS Type 1 and history of febrile seizures, contrasting with significantly lower proportion of interictal contralateral epileptiform discharges, HS Type 2, and increased wasteosomes in hippocampal specimens. Similar morphometric features but greater WM atrophy with more diffusion abnormalities of superficial WM was observed adjacent to ipsilateral TPR in the GMB+ group. Moreover, microstructural alterations resulting from temporopolar GMB were more localized in temporal cingulum while evenly and widely distributed along ILF and UF.

Interpretation: Temporopolar GMB could signify more severe and widespread microstructural damage of white matter rather than a focal cortical lesion in TLE-HS, affecting selection of surgical procedures.

研究目的这项单中心回顾性队列研究调查了颞叶癫痫和海马硬化症(TLE-HS)患者在核磁共振成像(MRI)上同侧颞极区(TPR)有/无灰白质异常(通常称为 "模糊";GMB)的潜在致病机制和临床意义:研究涉及105名接受标准前颞叶切除术的单侧TLE-HS患者(60名GMB+,45名GMB-)和61名健康对照者。切除的标本在光学显微镜下进行检查。结合 T1 加权和 DTI 数据,我们通过基于地图集的分割定量比较了同侧 TPR 相关浅层和深层白质(WM)的大尺度形态特征和精确扩散参数。我们还添加了沿束分析,以检测沿深层白质束不同点的异质性微结构改变,这些白质束被分为下纵筋束(ILF)、钩状筋束(UF)和颞侧脑室:GMB+组的HS 1型和发热性癫痫发作率明显高于GMB+组,而发作间期对侧癫痫样放电、HS 2型的比例明显低于GMB+组,海马标本中的废物小体也有所增加。GMB+组的形态特征与GMB+组相似,但同侧TPR附近的WM萎缩更严重,浅层WM的弥散异常更多。此外,颞极GMB导致的微结构改变更多集中在颞侧脑室,而沿ILF和UF均匀而广泛地分布:颞极GMB可能意味着TLE-HS患者白质微结构损伤更严重、更广泛,而非局灶性皮质病变,从而影响手术方式的选择。
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引用次数: 0
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 : 2024-11-01 Epub 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
Chronic active lesions preferentially localize in watershed territories in multiple sclerosis. 多发性硬化症患者的慢性活动性病灶优先分布在分水岭区域。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-11-01 Epub Date: 2024-10-24 DOI: 10.1002/acn3.52202
Ahmad A Toubasi, Jarrod J Eisma, Jiacheng Wang, Habeeb F Kazimuddin, Bryan Hernandez, Taegan Vinarsky, Caroline Gheen, Zachary Rohm, Carynn Koch, Margareta A Clarke, Rachael Cheek, John Kramer, James Eaton, Manus J Donahue, Francesca Bagnato

Objective: Paramagnetic rim lesions (PRLs) are a biomarker of chronic active lesions (CALs), and an important driver of neurological disability in multiple sclerosis (MS). The reason subtending some acute lesions evolvement into CALs is not known. Here we ask whether a relatively lower oxygen content is linked to CALs.

Methods: In this prospective cross-sectional study, 64 people with multiple sclerosis (PwMS), clinically isolated syndrome and radiologically isolated syndrome underwent a 7.0 Tesla (7 T) brain magnetic resonance imaging (MRI). The scanning protocol included a T2-w fluid-attenuated inversion recovery (FLAIR), and a single echo gradient echo from which susceptibility-weighted imaging (SWI) was derived. WM lesions were identified on the T2-w-FLAIR whilst PRLs were identified on the SWI sequence. T2-lesions were classified as PRLs and rimless lesions (PRLs-). We registered a universal vascular atlas to each subject's T2-w-FLAIR and classified each T2-lesions according to its location into watershed- (ws), non-watershed- (nws), and mixed-lesion (m). Ws-lesions were defined as lesions that were fully located in a region between the territories of two major arteries.

Results: Out of 1,975 T2-lesions, 88 (4.5%) were PRLs. Ws-regions had a higher number (p = 0.005) and proportion (p < 0.001) of PRLs- compared to nws-regions. Ws-PRL- were larger compared to nws-ones (p = 0.009). The number (p = 0.043) and proportion (p < 0.001) of PRLs was higher in ws-regions compared to nws-ones. Ws-PRLs were not significantly larger than nws-ones (p = 0.195).

Interpretation: We propose the novel concept of a link between arterial vascularization and chronic activity in MS by demonstrating a preferential localization of CALs in ws-territories.

目的:顺磁边缘病变(PRLs)是慢性活动性病变(CALs)的生物标志物,也是多发性硬化症(MS)神经残疾的重要驱动因素。一些急性病变演变为慢性活动性病变的原因尚不清楚。在此,我们想知道相对较低的氧含量是否与 CALs 有关:在这项前瞻性横断面研究中,64 名患有多发性硬化症(PwMS)、临床孤立综合征和放射学孤立综合征的患者接受了 7.0 特斯拉(7 T)脑磁共振成像(MRI)检查。扫描方案包括 T2-w 液体衰减反转恢复(FLAIR)和单回波梯度回波,并由此得出感度加权成像(SWI)。在T2-w-FLAIR上确定WM病变,而在SWI序列上确定PRL。T2 病变分为 PRLs 和无缘病变(PRLs-)。我们将通用血管图谱登记到每个受试者的 T2-w-FLAIR 上,并根据每个 T2- 病变的位置将其分为分水岭病变 (ws)、非分水岭病变 (nws) 和混合病变 (m)。Ws病变被定义为病变完全位于两条主要动脉区域之间的区域:在1,975个T2病变中,88个(4.5%)是PRL。Ws-区域的数量(p = 0.005)和比例(p)均较高:我们提出了一个新概念,即动脉血管化与多发性硬化症的慢性活动之间存在联系,并证明了CALs在Ws-区域的优先定位。
{"title":"Chronic active lesions preferentially localize in watershed territories in multiple sclerosis.","authors":"Ahmad A Toubasi, Jarrod J Eisma, Jiacheng Wang, Habeeb F Kazimuddin, Bryan Hernandez, Taegan Vinarsky, Caroline Gheen, Zachary Rohm, Carynn Koch, Margareta A Clarke, Rachael Cheek, John Kramer, James Eaton, Manus J Donahue, Francesca Bagnato","doi":"10.1002/acn3.52202","DOIUrl":"10.1002/acn3.52202","url":null,"abstract":"<p><strong>Objective: </strong>Paramagnetic rim lesions (PRLs) are a biomarker of chronic active lesions (CALs), and an important driver of neurological disability in multiple sclerosis (MS). The reason subtending some acute lesions evolvement into CALs is not known. Here we ask whether a relatively lower oxygen content is linked to CALs.</p><p><strong>Methods: </strong>In this prospective cross-sectional study, 64 people with multiple sclerosis (PwMS), clinically isolated syndrome and radiologically isolated syndrome underwent a 7.0 Tesla (7 T) brain magnetic resonance imaging (MRI). The scanning protocol included a T<sub>2</sub>-w fluid-attenuated inversion recovery (FLAIR), and a single echo gradient echo from which susceptibility-weighted imaging (SWI) was derived. WM lesions were identified on the T<sub>2</sub>-w-FLAIR whilst PRLs were identified on the SWI sequence. T<sub>2</sub>-lesions were classified as PRLs and rimless lesions (PRLs-). We registered a universal vascular atlas to each subject's T<sub>2</sub>-w-FLAIR and classified each T<sub>2</sub>-lesions according to its location into watershed- (ws), non-watershed- (nws), and mixed-lesion (m). Ws-lesions were defined as lesions that were fully located in a region between the territories of two major arteries.</p><p><strong>Results: </strong>Out of 1,975 T<sub>2</sub>-lesions, 88 (4.5%) were PRLs. Ws-regions had a higher number (p = 0.005) and proportion (p < 0.001) of PRLs- compared to nws-regions. Ws-PRL- were larger compared to nws-ones (p = 0.009). The number (p = 0.043) and proportion (p < 0.001) of PRLs was higher in ws-regions compared to nws-ones. Ws-PRLs were not significantly larger than nws-ones (p = 0.195).</p><p><strong>Interpretation: </strong>We propose the novel concept of a link between arterial vascularization and chronic activity in MS by demonstrating a preferential localization of CALs in ws-territories.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"2912-2922"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52202","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142491387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Dried blood spot improves global access to aquaporin-4-IgG testing for neuromyelitis optica. 干血斑提高了全球神经脊髓炎视网膜病变水肿素-4-IgG 检测的可及性。
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-11-01 Epub Date: 2024-10-15 DOI: 10.1002/acn3.52178
Nisa Vorasoot, Yahya J Abdulrahman, Farrah Mateen, James P Fryer, Vyanka Redenbaugh, Jessica A Sagen, Abdu K Musubire, Sarah M Jenkins, Amy P Gorsh, John J Chen, Anastasia Zekeridou, Andrew McKeon, Eoin P Flanagan, John R Mills, Sean J Pittock

Objective: This study aimed to evaluate the diagnostic accuracy of dried blood spot (DBS) compared with conventional serum Aquaporin-4-IgG (AQP4-IgG) testing.

Methods: Prospective multicenter diagnostic study was conducted between April 2018 and October 2023 across medical centers in the United States, Uganda, and the Republic of Guinea. Neuromyelitis optica spectrum disorder (NMOSD) patients and controls collected blood on filter paper cards along with concurrent serum samples. These samples underwent analysis using flow cytometric live-cell-based assays (CBA) and enzyme-linked immunosorbent assay (ELISA) to determine AQP4 serostatus. The accuracy of AQP4-IgG detection between DBS and serum (gold standard) was compared.

Results: Among 150 participants (47 cases, 103 controls), there was a strong correlation between DBS and serum samples (Spearman's correlation coefficient of 0.82). The AUC was 0.97 (95% CI: 0.92-0.99). AQP4-IgG detection through DBS showed 87.0% sensitivity (95% CI: 0.74-0.95) and 100% specificity (95% CI: 0.96-1.00) using CBA, and 65.2% sensitivity (95% CI: 0.43-0.84) and 95.2% specificity (95% CI: 0.76-0.99) using ELISA. Serum ELISA demonstrated 69.6% sensitivity (95% CI: 0.47-0.87) and 98.4% specificity (95% CI: 0.91-0.99). The stability of DBS in detecting AQP4-IgG persisted over 24 months for most cases.

Interpretation: The DBS represents a viable alternative for detecting AQP4-IgG in resource-limited settings to diagnose NMOSD, offering high sensitivity and specificity comparable to serum testing. Moreover, DBS has low shipping costs, is easy to administer, and is suitable for point-of-care testing.

目的本研究旨在评估干血斑(DBS)与传统血清Aquaporin-4-IgG(AQP4-IgG)检测相比的诊断准确性:2018年4月至2023年10月期间,在美国、乌干达和几内亚共和国的医疗中心开展了前瞻性多中心诊断研究。神经脊髓炎视网膜频谱障碍(NMOSD)患者和对照组在滤纸卡上采集血液,同时采集血清样本。这些样本通过流式细胞活细胞检测法(CBA)和酶联免疫吸附法(ELISA)进行分析,以确定 AQP4 血清状态。比较了 DBS 和血清(金标准)检测 AQP4-IgG 的准确性:在 150 名参与者(47 名病例,103 名对照组)中,DBS 与血清样本之间存在很强的相关性(斯皮尔曼相关系数为 0.82)。AUC为0.97(95% CI:0.92-0.99)。使用 CBA 通过 DBS 检测 AQP4-IgG 的灵敏度为 87.0%(95% CI:0.74-0.95),特异度为 100%(95% CI:0.96-1.00);使用 ELISA 的灵敏度为 65.2%(95% CI:0.43-0.84),特异度为 95.2%(95% CI:0.76-0.99)。血清 ELISA 的灵敏度为 69.6%(95% CI:0.47-0.87),特异度为 98.4%(95% CI:0.91-0.99)。在大多数病例中,DBS 检测 AQP4-IgG 的稳定性持续了 24 个月:在资源有限的环境中,DBS是检测AQP4-IgG以诊断NMOSD的可行替代方法,其灵敏度和特异性均可媲美血清检测。此外,DBS 的运输成本较低,易于管理,适合进行床旁检测。
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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 : 2024-11-01 Epub 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":"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":" ","pages":"2958-2966"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52206","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2 causing spastic paraplegia 77. 导致痉挛性截瘫的 FARS2 假杂合错义变异和 Alu 介导的第 5 号外显子缺失 77.
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-11-01 Epub Date: 2024-09-28 DOI: 10.1002/acn3.52195
Shu-Huai Lin, Jun-Hao Xie, Jun-Yi Jiang, Xin-Yu Yan, Chao-Yin Hong, Wan-Jin Chen, Ning Wang, Xiang Lin

FARS2-associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2. Both patients gradually developed altered gaits and weakness in both lower limbs. In our literature review, spastic paraplegia type 77 shows high heterogeneity in clinical manifestations. Our study broadens the scope of pathogenic mechanisms of SPG77 resulting from compound heterozygous mutations in FARS2 and provides strong evidence that deletion in FARS2 due to recombination event mediated by Alu element.

FARS2相关遗传性痉挛性截瘫(77型晚发痉挛性截瘫)是一种罕见的神经退行性疾病。在此,我们报告了一个常染色体隐性遗传痉挛性截瘫家族中的两个受影响的兄弟姐妹,他们的FARS2基因存在假同源错义变异和Alu介导的第5外显子缺失。两名患者都逐渐出现步态改变和双下肢无力。在我们的文献综述中,77 型痉挛性截瘫的临床表现具有高度异质性。我们的研究拓宽了FARS2复合杂合突变导致的SPG77的致病机制,并提供了FARS2缺失是由Alu元件介导的重组事件所致的有力证据。
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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 : 2024-11-01 Epub 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)。
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引用次数: 0
Insular monoaminergic deficits in prodromal α-synucleinopathies. 前驱α-突触核蛋白病的岛叶单胺能缺陷
IF 4.4 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-11-01 Epub Date: 2024-10-23 DOI: 10.1002/acn3.52151
Andrea Pilotto, Alice Galli, Cinzia Zatti, Fabio Placidi, Francesca Izzi, Enrico Premi, Silvia P Caminiti, Luca Presotto, Andrea Rizzardi, Marcello Catania, Alessandro Lupini, Leandro Purin, Maria P Pasolini, Nicola B Mercuri, Agostino Chiaravalotti, Mariana Fernandes, Carmen Calvello, Silvia Lucchini, Francesco Bertagna, Barbara Paghera, Daniela Perani, Daniela Berg, Alessandro Padovani, Claudio Liguori

Methods: This study assessed data from two cohorts of patients with alpha-synucleinopathies (University of Brescia and University of Rome Tor-Vergata cohorts). Consecutive participants with video-polysomnography-confirmed iRBD, Parkinson's disease (PD), dementia with Lewy bodies (DLB) and controls underwent neurological, clinical and 123I-FP-CIT SPECT imaging assessments. Individuals with iRBD were longitudinally monitored to collect clinical phenoconversion to PD or DLB. The main outcome was to identify whole brain 123 I-FP-CIT SPECT measures reflecting monoaminergic deficits in each clinical group as compared to controls.

Results: The cohort (n = 184) included 45 patients with iRBD, 47 PD, 42 DLB and 50 age-matched controls. Individuals with iRBD were categorized as RBD-DAT- (n = 32) and RBD-DAT+ (n = 13), according to nigrostriatal assessment used in clinical practice. Compared to controls, RBD-DAT- showed an early involvement of the left insula, which increased in RBD-DAT+, and was present in patients with Parkinson's disease and dementia with Lewy bodies. Longitudinal cox regression analyses revealed a higher risk of phenoconversion in individuals with iRBD and insular monoaminergic deficits [HR = 3.387; CI 95%: 1.18-10.27].

Interpretation: In this study, altered insular monoaminergic binding in iRBD was associated with phenoconversion to DLB or PD. These findings may provide a helpful stratification approach for future pharmacological or non-pharmacological interventions.

研究方法本研究评估了两个α-突触核蛋白病患者队列(布雷西亚大学队列和罗马托尔-韦尔加塔大学队列)的数据。经视频多导睡眠图证实患有 iRBD、帕金森病(PD)、路易体痴呆(DLB)的连续参与者和对照组接受了神经学、临床和 123I-FP-CIT SPECT 成像评估。对患有 iRBD 的患者进行纵向监测,以收集临床表现转化为 PD 或 DLB 的情况。主要结果是与对照组相比,确定反映各临床组单胺能缺陷的全脑123I-FP-CIT SPECT测量指标:组群(n = 184)包括 45 名 iRBD 患者、47 名 PD 患者、42 名 DLB 患者和 50 名年龄匹配的对照组。根据临床实践中使用的黑质评估方法,iRBD 患者被分为 RBD-DAT- 组(32 人)和 RBD-DAT+ 组(13 人)。与对照组相比,RBD-DAT-显示出左侧岛叶的早期受累,而RBD-DAT+则增加了左侧岛叶的受累,帕金森病和路易体痴呆患者也存在这种情况。纵向cox回归分析显示,iRBD和岛叶单胺能缺陷患者的表型转换风险更高[HR = 3.387; CI 95%: 1.18-10.27]:在这项研究中,iRBD的岛叶单胺能结合改变与表型转化为DLB或PD有关。这些发现可能为未来的药物或非药物干预提供了一种有用的分层方法。
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引用次数: 0
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Annals of Clinical and Translational Neurology
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