多发性硬化和视神经脊髓炎谱系疾病的嗅觉功能研究

目的 通过嗅觉测试探讨多发性硬化(MS)和视神经脊髓炎谱系疾病(NMOSD)嗅觉功能差异。方法 收集2021年1月至2022年2月贵州医科大学附属医院临床确诊的MS患者21例、NMOSD患者20例及健康对照21例,使用简体中文版宾夕法尼亚大学嗅觉识别测试(UPSIT)检测嗅觉情况,贝克抑郁量表(BDI)评价情绪,简易精神状态检查量表(MMSE)评价认知功能。结果 与对照组及NMOSD组比较,MS组UPSIT测试得分均较低(分别P<0.0001、P<0.05)。“椰子”(χ²=8.32,P<0.05)、“烟”(χ²=8.98,P<0.05)、“柠檬”(χ²=12.26,P<0.01)、“花生”(P<0.01)气味识别正确率三组间比较差异有统计学意义;组间两两比较显示,与对照组比较,MS组“椰子”(χ²=8.40,P<0.025)、“烟”(χ²=6.86,P<0.025)、“柠檬”(χ²=11.67,P<0...     

血清抗核抗体在视神经脊髓炎谱系疾病和多发性硬化中的分布

目的 研究血清抗核抗体(ANAs)在视神经脊髓炎谱系疾病(NMOSDs)和多发性硬化(MS)中的分布.方法 收集2009-01-2011-03间在作者医院神经内科门诊和住院诊治并行血清ANAs筛查的NMOSDs患者74例,包括视神经脊髓炎(NMO)53例、复发长节段横贯性脊髓炎(rLETM)20例和复发性视神经炎(RON)1例,以及MS患者49例,统计其血清ANAs阳性率并进行分析.结果 NMOSDs患者血清ANAs阳性率为45.9%(34/74),其中ANA(本文中特指用间接免疫荧光法检测的抗核抗体)、抗dsDNA、抗着丝粒抗体(ACA)、抗SSA抗体、抗SSB抗体阳性率分别为36.5%(27/74)、5.4%(4/74)、1.4%(1/74)、27.0%(20/74)、9.5%(7/74),MS组仅1例ANAs阳性,阳性率为2.0%(1/49),两组间差异有统计学意义(P<0.01).血清ANAs诊断NMOSDs的灵敏度为45.9%,特异度达98.0%;NMO和rLETM患者血清ANAs阳性率分别为47.2%和40.0%,两者无统计学差异(P=0.635).结论 NMO和rLETM患者血清ANAs阳性率高于MS组,支持NMO和rLETM同属于NMOSDs的观点.ANAs有可能是NMOSDs和MS两组疾病的鉴别指标之一.     

新诊断标准下视神经脊髓炎谱系疾病与多发性硬化的 临床特点分析

目的 研究视神经脊髓炎谱系疾病（NMOSD）的一般临床特点及与多发性硬化（MS）的区 别。方法 收集2016 年1 月—2017 年12 月于宣武医院神经内科住院的中枢神经系统脱髓鞘疾病患者， 依据2015 年NMOSD 诊断标准及2017 年McDonald 诊断标准进行筛选，对NMOSD 及MS 患者临床资料进 行回顾性分析，并比较NMOSD 及MS 患者临床特点。结果 纳入NMOSD 患者233 例，MS 患者125 例， 平均发病年龄分别为（43.0±14.7）岁、（38.1±11.2）岁，男女比例分别为1∶4.5、1∶2.6。NMOSD 多以视 神经受损症状起病，顽固性瘙痒、恶心、呕吐可能是其特征性临床特征；MS 则多以脑损伤起病。大多 数NMOSD 和MS 患者的首次发病无明显诱因，可能的诱因有上呼吸道感染、劳累、疫苗接种、产后等。 NMOSD 及MS 脑脊液压力方面无明显区别，相比MS 患者，NMOSD 患者脑脊液白细胞计数高于正常。血 水通道蛋白4 抗体（AQP4-Ab）与脑脊液寡克隆区带（OB）为鉴别二者重要生物标志物。结论 NMOSD 最 多被误诊的疾病是MS，尤其是疾病初期及对于AQP4-IgG 抗体测试阴性的NMOSD 患者。顽固性瘙痒、 恶心、呕吐可能是NMOSD 的一个被低估的特征。血AQP4-Ab 与脑脊液OB 分别为NMOSD 及MS 重要的 生物标志物，对鉴别两种疾病意义重大。     

多发性硬化与视神经脊髓炎谱系疾病的OCT评价

目的利用OCT检测MS与NMOSD患者黄斑区神经节细胞复合体(ganglion cell complex,GCC)和视网膜神经纤维层(retinal nerve fiber layer,RNFL)厚度,对其所致的视神经及轴突损伤进行分析。方法采用回顾性对照研究方法。收集河南科技大学第一附属医院治疗的MS患者30例为MS组,NMOSD患者32例为NMOSD组,同期健康受试者30例为对照组。采用OCT检测GCC(上、下象限和平均)和RNFL(鼻、颞、上、下4个象限及平均)的厚度,并进行比较分析。结果 NMOSD组和MS组GCC厚度(上、下象限和平均)及RNFL(4个象限和平均)厚度均显著低于对照组(P0.05)。NMOSD组上、下象限及平均GCC厚度低于MS组(P0.05)。NMOSD组上方RNFL厚度低于MS组(P0.05),但鼻、颞及下方象限RNFL厚度与MS组差异无统计学意义(P0.05)。结论 MS和NMOSD患者均存在明显的视神经及轴突损伤,但NMOSD患者损伤更为明显。     

视神经脊髓炎与多发性硬化的早期鉴别

视神经脊髓炎(NMO)又称Devic病,是主要累及视神经和脊髓的免疫介导的脱髓鞘疾病。NMO在东方人的中枢神经系统炎性脱髓鞘疾病中较多见,在东亚国家NMO约占48%,作者医院的NMO病例统计占43%,而西方人以经典型多发性硬化(MS)较为多见。长期以来关于NMO是     

视神经脊髓炎——是否是多发性硬化的一个亚型？

目的 探讨视神经脊髓炎与多发性硬化的方法。方法 对１３例视神经脊髓炎患者的临床表现,脑脊液,电生理学及影像学检查结果进行分析。结果 ８５％的视神经脊髓炎患者有多次（平均３．１次）的缓解复发,复发时症状仅限于视神经和／或脊髓,其脑脊液中寡克隆区带阳性率３３％,脑干诱发电位异常率８％,头颅ＣＴ和ＭＲＩ未发现异常。结论 视神经脊髓炎和多发性硬化之间有所不同,支持视神经脊髓炎是一个单独的疾病单元学说。     

甲氨蝶呤治疗多发性硬化及视神经脊髓炎的疗效分析

正多发性硬化(multiple sclerosis,MS)和视神经脊髓炎(neuromyelitis optica,NMO)是中枢神经系统特发性炎性脱髓鞘病,目前这两种疾病的病因及发病机制尚不完全清楚。MS和NMO治疗主要分为发作期和缓解期的治疗。发作期治疗以控制病情、缓解症状和最大程度地减少轴索和神经元损伤为目的,以糖皮质激素冲击治疗、免疫球蛋白     

视神经脊髓炎和经典型多发性硬化患者的Kaplan-Meier分析

目的 提高对视神经脊髓炎(NMO)和经典型多发性硬化(CMS)的诊治水平.方法 回顾性分析142例NMO和CMS患者的临床资料,并对病程≥5年的65例NMO和CMS患者做Kaplan-Meier分析.结果 在起始临床表现中,感觉缺失和视物模糊多见于NMO,眼球震颤和共济失调多见于CMS.CMS患者Kaplan-Meier曲线明显高于NMO患者.结论 与CMS比较,NMO残疾进展更快,正确区分NMO和CMS有利于二者治疗.     

Pruritus in neuromyelitis optica spectrum disorders and multiple sclerosis

PurposeDifferential diagnosis between neuromyelitis optica spectrum disorders (NMOSD) and multiple sclerosis (MS) at early stage remains challenging at present. Pruritus is reported as a common or specific feature in NMOSD with serum aquaporin-4 immunoglobulin G antibodies (AQP4-IgG). We aim to verify whether pruritus can help in distinguishing NMOSD from MS.MethodsWe retrospectively reviewed the medical records of consecutive cases of NMOSD and MS patients, demographic data, clinical features, whether or not had pruritus, serum AQP4-IgG status and magnetic resonance imaging (MRI) results.Results21.0% (22/105) of NMOSD patients and 2.1% (2/96) of MS patients reported pruritus during disease course (p < 0.01). 20.5% (18/88) of AQP4-IgG positive and 23.5% (4/17) of AQP4-IgG negative NMOSD patients reported pruritus during disease course (p = 0.775). 12.4% (13/105) of NMOSD and 1.0% (1/96) of MS patients reported pruritus at the first attack episode of disease (p < 0.01). 20.0% (21/105) of NMOSD and 1.0% (1/96) of MS patients reported pruritus at the first and second attack episodes of disease (p < 0.01).ConclusionPruritus is a common and relatively specific feature in either AQP4-IgG positive or negative NMOSD. Pruritus occurs more frequently in NMOSD than MS, which may help in distinguishing NMOSD from MS, especially at early stage.     

Recent insights into the pathology of multiple sclerosis and neuromyelitis optica

Multiple sclerosis (MS) is the most common inflammatory demyelinating disease of the central nervous system. Traditionally, demyelinating lesions in the white matter have been regarded as the most important pathological feature in MS, but recent pathological and imaging studies confirmed substantial changes in grey matter and normal-appearing white matter. MS lesions are characterized by inflammation, demyelination, axonal damage and astrogliosis. During early MS lesion formation acute axonal injury is extensive and correlates with inflammation. In addition to focal lesions, diffuse wide-spread changes including neuroaxonal degeneration and compartmentalized inflammation are likely to contribute to increasing disability in progressive MS. Neuromyelitis optica (NMO) is classically characterized by severe transverse myelitis and optic neuritis, but brain lesions are also present in the majority of NMO patients. The discovery of the NMO-specific antibody demonstrated that NMO is a disease entity distinct from MS. This antibody binds to aquaporin-4 expressed in astrocytes and ependymal cells. NMO lesions are characterized by inflammation, demyelination, axonal damage and a marked loss of aquaporin-4. Early NMO lesions demonstrate a pronounced humoral inflammatory response and astrocytic cell death with loss of aquaporin-4, followed by inflammatory demyelination and axonal damage. These recent findings contribute to a better understanding of different mechanisms leading to inflammatory demyelination.     

Antibodies target microvessels in neuromyelitis optica and multiple sclerosis patients

Abstract

Objective: This study investigated the presence of serum antibodies targeting microvessels in Chinese patients with multiple sclerosis (MS) and neuromyelitis optica (NMO).

Methods: Serum samples were collected from 50 patients with NMO, 10 with longitudinally extensive transverse myelitis (LETM), 4 with recurrent optic neuritis, 42 with MS and 27 controls. Serum antibodies binding to microvessels were measured by indirect immunofluorescence (IIF) assay of tissue sections from the brain, stomach and pancreas, and human umbilical vein endothelial cells (HUVEC). Aquaporin-4 (AQP4) antibodies were detected using a cell-based assay.

Results: Indirect immunofluorescence assay of tissue sections from 42 samples (30·4%, 42/138) were positive for microvessel antibodies, where microvessel antibody positivity was 38% (19/50) in patients with NMO, 57·1% (8/14) in high-risk NMO (hrNMO), 26·2% (11/42) in MS, and 14·8% (4/27) in controls. Based on HUVEC analysis, 14 patients with NMO (28%, 14/50), 5 with hrNMO (35·7%, 5/14), 15 with MS (35·7%, 15/42), and 5 controls (18·5%, 5/27) had (AECA). Sixteen patients (32%, 16/50) with NMO, four with hrNMO (28·6%, 4/14), two with MS (4·8%, 2/42), and 0% of controls were positive for antinuclear antibodies (ANA). In MS patients, seropositive AECA MS patients had higher numbers of relapse events and increased spinal lesions than seronegative MS patients (P < 0·05).

Conclusions: Serum microvessel antibodies were present in patients with NMO and MS and the role of microvessel antibodies in diseases may be heterogeneous. This study suggests that AECA may have some significance in MS patients.     

视神经脊髓炎与多发性硬化的临床表现和视神经脊髓炎IgG抗体阳性率的对比

目的 比较视神经脊髓炎(NMO)和多发性硬化(MS)在临床表现、辅助检查等方面的不同;比较NMO和MS等脱髓鞘疾病患者血清NMO-IgG抗体的阳性率,判断该抗体能否作为鉴别诊断的一项实验室依据.方法 对34例NMO、22例MS、24例高危综合征、5例临床孤立综合征以及35例其他神经科疾病患者进行NMO-IgG检测,并对其中NMO、MS患者的人口学、临床表现、免疫学指标、脑脊液、头颅MRI等资料进行对比.结果 NMO的起病年龄较MS大且年龄跨度更广;从年复发率和进展指数来看,NMO更为严重,预后更差;NMO长节段脊髓损害者比MS多.NMO-IgG在NMO组和高危综合征组的阳性率分别为58.8%(20/34)和45.8%(11/24),高于MS组(1/22)、临床孤立综合征组(1/5)和其他疾病组(1/35;X2=37.2,P<0.01).NMO-IgG阳性率与脊髓病变长度相关.结论 NMO和MS在临床表现、辅助检查等方面都有所不同,提示NMO与MS可能是2种不同的疾病.NMO-IgG在NMO患者中的阳性率高于MS患者,可以作为鉴别诊断的一项实验室依据.     

Seroprevalence of NMO-IgG among patients with neuromyelitis optica and opticospinal multiple sclerosis

Objectives

In this study we sought to compare the seropositivity of NMO-IgG in patients presenting with demyelinative involvement of optic nerve and spinal cord with and without longitudinally extensive spinal cord lesion (LESCL).

Methods

Patients who were referred to Isfahan Multiple Sclerosis Clinic and Isfahan Devic's Disease Clinic at Al-Zahra Hospital in Iran were screened for this study. Patients with signs and symptoms indicating the demyelinating involvement of optic nerve(s) and spinal cord were included. Patients were evaluated by a neurologist and spinal cord and brain magnetic resonance imaging (MRI) were obtained. Patients with normal first brain MRI and with spinal cord demyelinative lesions visible on spinal MRI were included. Patients were then put into two groups: (i) patients with LESCL [neuromyelitis optica (NMO)] and (ii) patients with spinal plaques which do not extend over three vertebrae [opticospinal multiple sclerosis (OSMS)]. NMO-IgG was measured in the serum of the included patients.

Results

Totally we recruited 33 patients with LESCL and 32 patients without LESCL. The mean age of patients without LESCL was 34.61 ± 10.98 and it was 33.48 ± 11.93 for the NMO patients. In both groups there were 24 females and the rest were males. Among the NMO patients 16 (48.5%) were positive for NMO-IgG, while in the OSMS group there were none.

Conclusion

The results of this study are in line with previous observations, and imply that the presence of LESCL is associated with the presence of NMO-IgG and thus an indicator of NMO.     

Differentiation between multiple sclerosis and neuromyelitis optica spectrum disorders by multiparametric quantitative MRI using convolutional neural network

Multiple sclerosis and neuromyelitis optica spectrum disorders are both neuroinflammatory diseases and have overlapping clinical manifestations. We developed a convolutional neural network model that differentiates between the two based on magnetic resonance imaging data. Thirty-five patients with relapsing-remitting multiple sclerosis and eighteen age-, sex-, disease duration-, and Expanded Disease Status Scale-matched patients with anti-aquaporin-4 antibody-positive neuromyelitis optica spectrum disorders were included in this study. All patients were scanned on a 3-T scanner using a multi-dynamic multi-echo sequence that simultaneously measures R1 and R2 relaxation rates and proton density. R1, R2, and proton density maps were analyzed using our convolutional neural network model. To avoid overfitting on a small dataset, we aimed to separate features of images into those specific to an image and those common to the group, based on SqueezeNet. We used only common features for classification. Leave-one-out cross validation was performed to evaluate the performance of the model. The area under the receiver operating characteristic curve of the developed convolutional neural network model for differentiating between the two disorders was 0.859. The sensitivity to multiple sclerosis and neuromyelitis optica spectrum disorders, and accuracy were 80.0%, 83.3%, and 81.1%, respectively. In conclusion, we developed a convolutional neural network model that differentiates between multiple sclerosis and neuromyelitis optica spectrum disorders, and which is designed to avoid overfitting on small training datasets. Our proposed algorithm may facilitate a differential diagnosis of these diseases in clinical practice.     

视神经脊髓炎和多发性硬化患者颈髓扩散张量成像研究

目的通过扩散张量成像(DTI)比较视神经脊髓炎和多发性硬化患者与正常对照者常规MRI表现正常脊髓的扩散性差异,并探讨其临床应用价值。方法采用平面回波成像技术对10例视神经脊髓炎、14例多发性硬化患者和13例正常对照者进行颈髓DTI检查,分别测量颈椎C2~5水平前索、侧索、后索和灰质兴趣区的部分各向异性(FA)和平均扩散率(MD)。结果与正常对照组相比,视神经脊髓炎组患者前索、侧索、后索FA值降低(均P0.05),左侧侧索、后索、灰质MD值升高(均P≤0.05);多发性硬化组患者右侧侧索、后索FA值降低(均P0.05)。与多发性硬化患者相比,视神经脊髓炎患者侧索FA值更低,左侧侧索和右侧后索MD值更高(均P0.05)。结论 DTI可以检出视神经脊髓炎和多发性硬化患者常规MRI表现正常脊髓的水分子扩散异常,进而发现二者脊髓扩散指标的差异性,为早期诊断与鉴别诊断提供重要信息。     

Treatment of multiple sclerosis and neuromyelitis optica in children and adolescents

Paediatric multiple sclerosis (MS) accounts for up to 5% of all MS cases. No therapies have been formally approved for paediatric patients with MS. However, there is published experience on the use of disease modifying therapies in children and adolescents with MS.Neuromyelitis optica (NMO) is an autoimmune inflammatory disease preferentially targeting the optic nerves and spinal cord. This devastating disease usually requires preventive therapy with a range of immunosuppressive medications. There are limited studies informing the use of these medications in children with NMO. This review provides a comprehensive analysis of the published literature on therapeutic interventions in children and adolescents with MS and NMO.     

应早期鉴别和区别治疗视神经脊髓炎与多发性硬化

视神经脊髓炎(NMO)是主要累及视神经和脊髓的中枢神经系统炎性脱髓鞘疾病。1884年首先由Devic报告,故又称为Devic’s病。在中枢神经系统炎性脱髓鞘疾病中,视神经脊髓炎在亚洲人群较为多见,而欧美人群则以经典型多发性硬化(MS)更常见。近年研究发现,中枢神经系统水通道蛋白aquaporin4(AQP4)抗体(NMOIgG)为视神经脊髓     

水通道蛋白4启动子基因多态性与多发性硬化、视神经脊髓炎遗传易患性的关系

目的 探讨水通道蛋白4(AQP4)启动子区基因多态性与我国南方多发性硬化(MS)、视神经脊髓炎(NMO)患者血清抗AQP4抗体水平及遗传易患性的关系.方法 收集18例NMO、38例MS、13例复发性脊髓炎(RM)、6例复发性视神经炎(RON)患者及39名对照,PCR扩增AQP4外显子0及外显子1启动子基因(即AQP4-promoter0和AQP4-promoter 1),并行DNA测序.结果 共发现14个AQP4-promoter0及6个AQP4-promoter 1基因多态性位点.血清抗AQP4抗体阳性患者AQP4-promoter 0中-1003 bp多态性位点(A突变为G)发生率比血清抗AQP4抗体阴性患者(13/18与20/45,P=0.046)及对照组(13/18与10/39,P=0.001)高,差异有统计学意义.血清抗AQP4抗体阳性患者及血清抗AQP4抗体阴性患者AQP4-promoter 1中- 401 bp与-400 bp之间多态性位点(插入1个C)发生率均比对照组高(5/16与0/28,P=0.008; 8/38与0/28,P=0.027),差异有统计学意义.NMO及MS患者-1003bp多态性位点及-401 bp与-400 bp之间多态性位点发生率均比对照组高,差异有统计学意义(NMO:11/18与10/39,P=0.010;4/15与0/28,P=0.020;MS:19/38与10/39,P=0.027;8/34与0/28,P=0.018).结论 AQP4启动子区基因存在多态性位点,且与NMO、MS易患性有一定的关系;AQP4外显子0启动子中- 1003 bp多态性位点可能与血清抗AQP4抗体的出现有关.