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Misdiagnosis and underdiagnosis of multiple sclerosis: A systematic review and meta-analysis. 多发性硬化症的误诊和漏诊:系统回顾和荟萃分析。
IF 4.8 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-09-08 DOI: 10.1177/13524585241274527
Wolfgang Emanuel Zürrer, Amelia Elaine Cannon, Dariya Ilchenko, María Inés Gaitán, Tobias Granberg, Fredrik Piehl, Andrew J Solomon, Benjamin Victor Ineichen

Background: Diagnostic errors in multiple sclerosis (MS) impact patients and healthcare systems.

Objectives: This study aimed to determine the prevalence of MS misdiagnosis and underdiagnosis, time delay in reaching a correct diagnosis and potential impact of sex.

Methods: Systematic review and meta-analysis on MS diagnostic errors.

Results: Out of 3910 studies, we included 62 for a qualitative synthesis and 24 for meta-analyses. Frequency of misdiagnosis (incorrect assignment of an MS diagnosis) ranged from 5% to 41%, with a pooled proportion based on six studies of 15% (95% CI: 9%-26%, n = 1621). The delay to rectify a misdiagnosis ranged from 0.3 to 15.9 years. Conversely, underdiagnosis (unrecognized diagnosis of MS) ranged from 3% to 58%, with a pooled proportion in four studies of 36% (95% CI: 20%-55%, n = 728). Pooling seven studies comprising 2851 individuals suggested a diagnostic delay to establish a correct MS diagnosis of 17.3 months (95% CI: 11.9-22.7) in patients underdiagnosed. In a meta-analysis of five studies, women were 2.1 times more likely to be misdiagnosed with MS compared to men (odds ratio, 95% CI: 1.53-2.86).

Conclusion: This study provides summary-level evidence for the high prevalence of MS misdiagnosis and underdiagnosis. Future studies are needed to understand the causes of these diagnostic challenges in MS care.

背景:多发性硬化症(MS)的诊断错误会影响患者和医疗系统:多发性硬化症(MS)的诊断错误会影响患者和医疗系统:本研究旨在确定多发性硬化症误诊和漏诊的发生率、获得正确诊断的时间延迟以及性别的潜在影响:方法:对多发性硬化症诊断错误进行系统回顾和荟萃分析:在 3910 项研究中,我们纳入了 62 项进行定性综合,24 项进行荟萃分析。误诊率(多发性硬化症诊断错误)从5%到41%不等,基于6项研究的汇总比例为15%(95% CI:9%-26%,n = 1621)。纠正误诊的延迟时间从 0.3 年到 15.9 年不等。相反,诊断不足(未被承认的多发性硬化症诊断)从3%到58%不等,四项研究的汇总比例为36%(95% CI:20%-55%,n = 728)。汇总七项研究(共 2851 人)表明,在诊断不足的患者中,MS 的正确诊断延迟时间为 17.3 个月(95% CI:11.9-22.7)。在对五项研究的荟萃分析中,女性被误诊为多发性硬化症的几率是男性的2.1倍(几率比,95% CI:1.53-2.86):本研究为多发性硬化症的高误诊率和低诊断率提供了简要证据。今后需要开展研究,以了解多发性硬化症护理中出现这些诊断难题的原因。
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引用次数: 0
The relationship between ethnicity and multiple sclerosis characteristics in the United Kingdom: A UK MS Register study. 英国种族与多发性硬化症特征之间的关系:英国多发性硬化症登记研究。
IF 4.8 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-09-20 DOI: 10.1177/13524585241277018
Benjamin M Jacobs, Luisa Schalk, Emily Tregaskis-Daniels, Pooja Tank, Sadid Hoque, Michelle Peter, Katherine Tuite-Dalton, James Witts, Riley Bove, Ruth Dobson

Background: Previous studies have suggested differences in multiple sclerosis (MS) severity according to ethnicity.

Methods: Data were obtained from the UK MS Register, a prospective longitudinal cohort study of persons with MS. We examined the association between self-reported ethnic background and age at onset, symptom of onset and a variety of participant-reported severity measures. We used adjusted multivariable linear regression models to explore the association between ethnicity and impact of MS, and Cox proportional hazards models to assess disability progression.

Results: We analysed data from 17,314 people with MS, including participants from self-reported Black (n = 157) or South Asian (n = 230) ethnic backgrounds. Age at MS onset and diagnosis was lower in those of South Asian (median 30.0) and Black (median 33.0) ethnicity compared with White ethnicity (median 35.0). In participants with online MS severity measures available, we found no statistically significant evidence for an association between ethnic background and physical disability in MS in both cross-sectional and longitudinal analyses.

Conclusion: We found no association between ethnic background and MS severity in a large, diverse UK cohort. These findings suggest that other factors, such as socioeconomic status and structural inequalities, may explain previous findings.

背景:先前的研究表明,多发性硬化症(MS)的严重程度因种族而异:以前的研究表明,多发性硬化症(MS)的严重程度因种族而异:数据来自英国多发性硬化症登记册,这是一项针对多发性硬化症患者的前瞻性纵向队列研究。我们研究了自我报告的种族背景与发病年龄、发病症状和参与者报告的各种严重程度之间的关系。我们使用调整后的多变量线性回归模型来探讨种族与多发性硬化症影响之间的关系,并使用 Cox 比例危险模型来评估残疾进展:我们分析了 17,314 名多发性硬化症患者的数据,其中包括自述为黑人(157 人)或南亚人(230 人)的患者。与白人(中位数 35.0)相比,南亚裔(中位数 30.0)和黑人(中位数 33.0)患者的多发性硬化症发病和诊断年龄较低。在可在线测量多发性硬化症严重程度的参与者中,我们在横向和纵向分析中均未发现种族背景与多发性硬化症身体残疾之间存在统计学意义上的显著关联:我们发现,在一个大型、多样化的英国队列中,种族背景与多发性硬化症严重程度之间没有关联。这些研究结果表明,社会经济地位和结构不平等等其他因素可能解释了之前的研究结果。
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引用次数: 0
The kappa free light chains index is an accurate diagnostic biomarker for paediatric multiple sclerosis. 卡帕游离轻链指数是儿科多发性硬化症的准确诊断生物标志物。
IF 4.8 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-10-01 Epub Date: 2024-09-08 DOI: 10.1177/13524585241274034
Aurélie Sarthou, Pascale Chrétien, Laetitia Giorgi, Andrada Chiron, Carole Leroy, Philippe Horellou, Roman Krzysiek, Kumaran Deiva, Salima Hacein-Bey-Abina

Background: Multiple sclerosis (MS) may occur before the age of 18. Differentiation between paediatric MS (PedMS) and other demyelinating syndromes (ODSs) is challenging. In adult with MS, the kappa free light chain (KFLC) index has proven to be a reliable marker of intrathecal Ig synthesis.

Objective: To assess the diagnostic value of the KFLC index in a cohort of patients with paediatric-onset, inflammatory disorders of the CNS.

Methods: We included 73 patients and divided them into four groups: PedMS (n = 16), ODS (n = 17), encephalitis and/or inflammatory epilepsy (EE, n = 15), and controls without inflammatory CNS diseases (n = 25). The KFLC index was calculated and compared with the results of the oligoclonal bands determination.

Results: The KFLC index was higher in the PedMS group (median (interquartile range (IQR)): 150.9 (41.02-310.6)) than in the ODS (3.37 (2.22-8.11)), the EE (5.53 (2.31-25.81)) and the control group (3.41 (2.27-5.08)), respectively. The best KFLC index cut-off for differentiating between patients with PedMS and controls was 6.83 (sensitivity: 100%; specificity: 92%). A KFLC index over 93.77 indicated that the patient is very likely to have PedMS (sensitivity: 68%; specificity: 100%).

Conclusion: The KFLC index is a reliable tool for the diagnosis of MS in a paediatric population.

背景:多发性硬化症(MS)可能在 18 岁前发病。区分儿童多发性硬化症(PedMS)和其他脱髓鞘综合征(ODSs)具有挑战性。在成人多发性硬化症患者中,卡帕游离轻链(KFLC)指数已被证明是鞘内 Ig 合成的可靠标志物:目的:评估 KFLC 指数在一组儿科中枢神经系统炎症性疾病患者中的诊断价值:我们纳入了 73 名患者,并将其分为四组:PedMS(16 人)、ODS(17 人)、脑炎和/或炎症性癫痫(EE,15 人)以及无中枢神经系统炎症性疾病的对照组(25 人)。计算KFLC指数并与寡克隆带测定结果进行比较:结果:PedMS 组的 KFLC 指数较高(中位数(四分位数间距(IQR):150.9(41.02-3)):150.9(41.02-310.6))分别高于 ODS 组(3.37(2.22-8.11))、EE 组(5.53(2.31-25.81))和对照组(3.41(2.27-5.08))。区分 PedMS 患者和对照组的最佳 KFLC 指数临界值为 6.83(灵敏度:100%;特异性:92%)。KFLC指数超过93.77表明患者极有可能患有PedMS(敏感性:68%;特异性:100%):KFLC指数是诊断儿童多发性硬化症的可靠工具。
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引用次数: 0
Topical review: Lactation and use of DMTs in women with MS. 专题回顾:多发性硬化症女性患者的哺乳和 DMTs 的使用。
IF 4.8 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-30 DOI: 10.1177/13524585241257843
Stephanie Hsu, Ayushi Balan, Riley Bove

One in three females with multiple sclerosis (MS) becomes pregnant after diagnosis. In the postpartum period, there is a risk of rebound inflammatory activity. This risk can likely be reduced with breastfeeding, as well as with early initiation of effective therapies that have low therapeutic lag. To guide patients in their choices surrounding breastfeeding and MS therapies, clinicians must be familiar with how best to protect against relapses, to ensure infant safety, and to support breastfeeding choices. This topical review provides a broad framework on lactation in women with MS. It seeks to reframe guidelines around caring for the maternal-infant dyad, and for diverse populations living with MS. It also provides updated data on the effects of lactation in women with MS and the limited data on transfer of disease-modifying therapies (DMTs) into breastmilk. The ultimate goal is to support informed shared decision-making between clinicians and patients regarding breastfeeding during the high-risk postpartum period.

每三名多发性硬化症(MS)女性患者中就有一人在确诊后怀孕。在产后,炎症活动有反弹的风险。通过母乳喂养以及尽早开始使用治疗滞后期短的有效疗法,可以降低这种风险。为了指导患者选择母乳喂养和多发性硬化症疗法,临床医生必须熟悉如何最好地防止复发、确保婴儿安全并支持母乳喂养的选择。本专题综述为多发性硬化症女性患者的哺乳提供了一个广泛的框架。它旨在重新制定有关照顾母婴二人组和不同多发性硬化症患者的指导原则。它还提供了有关多发性硬化症女性患者哺乳期影响的最新数据,以及有关疾病修饰疗法 (DMT) 转移到母乳中的有限数据。其最终目标是支持临床医生和患者就产后高风险期的母乳喂养做出知情的共同决策。
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引用次数: 0
Multiple sclerosis and cancer: Navigating a dual diagnosis. 多发性硬化症和癌症:驾驭双重诊断。
IF 4.8 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-30 DOI: 10.1177/13524585241274523
Cassie Nesbitt, Anneke Van Der Walt, Helmut Butzkueven, Bianca Devitt, Vilija G Jokubaitis

Healthcare breakthroughs are extending the lives of multiple sclerosis (MS) patients and cancer survivors, creating a growing cohort of individuals navigating a dual diagnosis. Determining the relationship between MS and cancer risk remains challenging, with inconclusive findings confounded by age, risk exposures, comorbidities, genetics and the ongoing introduction of new MS disease-modifying therapies (DMTs) across study periods.This research places significant emphasis on cancer survival, with less attention given to the impact on MS outcomes. Our review explores the existing literature on MS, cancer risk and the intersection of DMTs and cancer treatments. We aim to navigate the complexities of managing MS in cancer survivors to optimise outcomes for both conditions. Continuous research and the formulation of treatment guidelines are essential for guiding future care. Collaboration between neuro-immunology and oncology is crucial, with a need to establish databases for retrospective and ultimately prospective analysis of outcomes in these rapidly evolving fields.

医疗保健方面的突破正在延长多发性硬化症(MS)患者和癌症幸存者的生命,从而使越来越多的人在双重诊断中游刃有余。确定多发性硬化症与癌症风险之间的关系仍具有挑战性,由于年龄、风险暴露、合并症、遗传学以及在研究期间不断引入新的多发性硬化症疾病修饰疗法(DMTs)等因素的影响,目前尚无定论。我们的综述探讨了有关多发性硬化症、癌症风险以及 DMTs 和癌症治疗交叉的现有文献。我们旨在了解癌症幸存者多发性硬化症管理的复杂性,以优化两种疾病的治疗效果。持续的研究和治疗指南的制定对于指导未来的治疗至关重要。神经免疫学和肿瘤学之间的合作至关重要,需要建立数据库,对这些快速发展领域的治疗效果进行回顾性分析,并最终进行前瞻性分析。
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引用次数: 0
Uveitis: A snapshot in the MOG antibody spectrum. 葡萄膜炎MOG 抗体谱的一个缩影。
IF 4.8 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-29 DOI: 10.1177/13524585241285173
Claudia Fabiani, Gian Marco Tosi, Valentina Damato, Monica Ulivelli, Alessandra Rufa, Alfonso Cerase, Nicola De Stefano, Rosa Cortese

Despite the commonly observed association of anti-myelin oligodendrocyte glycoprotein (MOG) antibodies with bilateral optic neuritis, their connection to uveitis is largely unexplored. The presented case involves a 41-year-old male with uveitis and bilateral optic neuritis, subsequently diagnosed with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). This case, characterized by bilateral optic neuritis associated to anti-MOG antibodies and the concurrent onset of unilateral anterior uveitis, provides further evidence concerning the features of intraocular inflammation in MOGAD. The patient's treatment response, including the use of rituximab due to contraindications to oral steroids, emphasizes the importance of personalized management strategies in MOGAD-associated ocular manifestations.

尽管抗髓鞘少突胶质细胞糖蛋白(MOG)抗体通常与双侧视神经炎有关,但它们与葡萄膜炎的关系在很大程度上还未被研究。本病例涉及一名患有葡萄膜炎和双侧视神经炎的41岁男性,随后被诊断为髓鞘少突胶质细胞糖蛋白抗体相关疾病(MOGAD)。该病例的特点是双侧视神经炎与抗 MOG 抗体相关,并同时出现单侧前葡萄膜炎,这为 MOGAD 眼内炎症的特征提供了进一步的证据。该患者的治疗反应,包括因口服类固醇禁忌症而使用利妥昔单抗,强调了个性化治疗策略在MOGAD相关眼部表现中的重要性。
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引用次数: 0
Glymphatic dysfunction in multiple sclerosis and its association with disease pathology and disability. 多发性硬化症的淋巴功能障碍及其与疾病病理和残疾的关系。
IF 4.8 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-29 DOI: 10.1177/13524585241280842
Ahmed Bayoumi, Khader M Hasan, Joseph A Thomas, Akram Yazdani, John A Lincoln

Background: The role of the glymphatic system in multiple sclerosis (MS)-related disability remains underexplored. Diffusion-tensor image analysis along the perivascular space (DTI-ALPS) offers a non-invasive method to assess glymphatic function.

Objective: To evaluate glymphatic function in MS patients with lower and higher disability.

Methods: This study included 118 MS patients who underwent structural, diffusion-weighted imaging, and clinical assessment. The participants were divided into lower (MS-L, n = 57) and higher disability (MS-H, n = 61) subgroups. Brain parenchymal fraction (BPF), lesion load (LL), and DTI-ALPS index were measured. Subgroup differences and correlations between DTI-ALPS index and other measures were explored. Logistic regression was performed to evaluate BPF, LL, and DTI-ALPS index in classifying lower and higher disability patients.

Results: Significant differences in DTI-ALPS index between MS-H and MS-L (d = -0.71, false discovery rate-corrected p-value (p-FDR) = 0.001) were found. The DTI-ALPS index correlated significantly with disease duration (rp = -0.29, p-FDR = 0.002) and EDSS (rsp = -0.35, p-FDR = 0.0002). It also showed significant correlations with BPF and LL. DTI-ALPS index and LL were significant predictors of disability subgroup (DTI-ALPS: odds ratio (OR) = 1.77, p = 0.04, LL: OR = 0.94, p = 0.02).

Conclusion: Our findings highlight DTI-ALPS index as an imaging biomarker in MS, suggesting the involvement of glymphatic impairment in MS pathology, although further research is needed to elucidate its role in contributing to MS-related disability.

背景:甘液系统在多发性硬化症(MS)相关残疾中的作用仍未得到充分探索。沿血管周围空间的弥散张量图像分析(DTI-ALPS)提供了一种非侵入性方法来评估肾脏功能:评估多发性硬化症低度和高度致残患者的肾脏功能:本研究纳入了 118 名接受结构、弥散加权成像和临床评估的多发性硬化症患者。参与者被分为残疾程度较低(MS-L,n = 57)和残疾程度较高(MS-H,n = 61)两组。对脑实质部分(BPF)、病变负荷(LL)和DTI-ALPS指数进行了测量。探讨了亚组差异以及 DTI-ALPS 指数与其他测量指标之间的相关性。对BPF、LL和DTI-ALPS指数进行了逻辑回归,以评估其对残疾程度较低和较高的患者的分级作用:DTI-ALPS指数在MS-H和MS-L之间存在显著差异(d = -0.71,假发现率校正p值(p-FDR) = 0.001)。DTI-ALPS 指数与病程(rp = -0.29,p-FDR = 0.002)和 EDSS(rsp = -0.35,p-FDR = 0.0002)显著相关。它与 BPF 和 LL 也有明显的相关性。DTI-ALPS 指数和 LL 是残疾亚组的重要预测指标(DTI-ALPS:比值比 (OR) = 1.77,P = 0.04;LL:OR = 0.94,P = 0.02):我们的研究结果表明,DTI-ALPS指数是多发性硬化症的一种影像生物标志物,提示多发性硬化症病理中存在肾上腺功能损害,但仍需进一步研究以阐明其在多发性硬化症相关残疾中的作用。
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引用次数: 0
ECTRIMS 2024 – Late Breaking Oral Presentations ECTRIMS 2024 - 最新口头报告
IF 5.8 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-17 DOI: 10.1177/13524585241269216
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引用次数: 0
ECTRIMS 2024 – Author Index ECTRIMS 2024 - 作者索引
IF 5.8 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-17 DOI: 10.1177/13524585241269215
{"title":"ECTRIMS 2024 – Author Index","authors":"","doi":"10.1177/13524585241269215","DOIUrl":"https://doi.org/10.1177/13524585241269215","url":null,"abstract":"","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142256964","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
ECTRIMS 2024 – Late Breaking ePoster ECTRIMS 2024 - 最新电子海报
IF 5.8 2区 医学 Q1 CLINICAL NEUROLOGY Pub Date : 2024-09-17 DOI: 10.1177/13524585241269217
{"title":"ECTRIMS 2024 – Late Breaking ePoster","authors":"","doi":"10.1177/13524585241269217","DOIUrl":"https://doi.org/10.1177/13524585241269217","url":null,"abstract":"","PeriodicalId":18874,"journal":{"name":"Multiple Sclerosis Journal","volume":null,"pages":null},"PeriodicalIF":5.8,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142269210","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
期刊
Multiple Sclerosis Journal
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