• 文章类型: Case Reports
    急性播散性脑脊髓炎(ADEM)的诊断具有挑战性,因为存在其他模拟其症状的医学状况以及缺乏精确的生物标志物。及时诊断对于开始适当的治疗至关重要,这提高了临床轨迹和长期预后。本研究的目的是强调重大关切,专门针对神经学家和放射科医生,由于识别这种疾病的困难。神经学家必须对当前诊断测试的临床表现和限制有广泛的了解。此外,这种理解对放射科医生来说同样重要,因为它是根据影像学发现进行精确诊断解释的基础。神经系统疾病的复杂性通常需要神经学家和放射科医师之间的合作努力,以确保精确的诊断和有效的治疗策略。本研究讨论了一例男性患者的临床诊断为ADEM,生物学和影像学评估。
    The diagnosis of acute disseminated encephalomyelitis (ADEM) is challenging due to the existence of other medical conditions that mimic its symptoms and the lack of precise biomarkers. Timely diagnosis is essential for commencing an appropriate treatment, which enhances the clinical trajectory and long-term prognosis. The purpose of the present study was to emphasize significant concerns, specifically for neurologists and radiologists, due to the difficulties involved in identifying this disorder. Neurologists must have an extensive understanding of the clinical manifestations and constraints of current diagnostic tests. Furthermore, this understanding is equally essential for radiologists, as it serves as the foundation for precise diagnostic interpretations derived from imaging findings. The intricate nature of neurological disorders frequently necessitates a cooperative effort between neurologists and radiologists to guarantee precise diagnosis and efficient therapy strategizing. The present study discusses a case of a male patient who was diagnosed with ADEM based on clinical, biological and imaging evaluations.
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  • 文章类型: Journal Article
    目的:多发性硬化症(MS)可能不仅包括严重的神经系统体征和症状,还有认知和精神障碍。当精神病症状先于MS或与MS共病时,它构成了临床挑战,因为这可能会导致MS被误诊为精神疾病,延迟适当的治疗。我们描述了由于神经精神症状而延迟诊断的MS女性患者的神经心理学特征。方法:对一名诊断为复发缓解型MS(RRMS)的36岁墨西哥妇女的病史和远程神经心理评估结果进行了综合分析。结果:患者有长期精神病史,焦虑,和抑郁特征在导致MS几年不被注意的第一个神经系统症状出现前几年。语言,注意,感性的,电机,和学习技能被发现保留。发现了短期记忆和空间取向问题,处理速度下降和执行功能障碍,包括工作记忆和计划缺陷。结论:患者具有非典型的神经心理学改变表现,具有类似于背外侧额叶综合征的认知和行为症状。本案例研究强调了在患有精神症状的患者的鉴别诊断中考虑MS的重要性。即使没有明显的神经体征。
    Objective: Multiple sclerosis (MS) may include not only severe neurological signs and symptoms, but also cognitive and psychiatric disturbances. When psychiatric symptoms precede or are comorbid with MS, it poses a clinical challenge, because it may lead to a mistaken diagnosis of MS as a psychiatric disorder, delaying proper treatment. We describe the neuropsychological profile of a female patient with MS whose diagnosis was delayed due to neuropsychiatric symptoms. Method: A comprehensive analysis of the medical history and the results of a teleneuropsychological assessment of a 36-year-old Mexican woman with a diagnosis of relapsing--remitting MS (RRMS) was performed. Results: The patient indicates a long history of psychotic, anxious, and depressive features years before the first neurological symptom that led to MS going unnoticed for several years. Language, attentional, perceptual, motor, and learning skills were found to be preserved. Short-term memory and spatial orientation problems were identified, with decreased processing speed and executive dysfunction, including working memory and planning deficits. Conclusions: The patient has a non-typical presentation of neuropsychological alterations with cognitive and behavioral symptoms that resemble dorsolateral frontal lobe syndrome. This case study highlights the importance of considering MS in differential diagnosis of patients with psychiatric symptoms, even in the absence of obvious neurological signs.
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  • 文章类型: Case Reports
    我们提供了一名脊椎指压医师诊断颈椎多发性硬化症的病例报告。这个独特的病例为文献提供了一个具有挑战性的鉴别诊断。一名30岁的男性,有三年的弥漫性左上肢运动力量缺陷和感觉异常(麻木和刺痛)病史。该患者因这些症状看过多位医生,没有诊断为多发性硬化症,也没有先进的影像学检查。鉴别诊断包括下颈椎神经根受压或神经疾病,如肌萎缩侧索硬化,脑损伤,运动神经病变,多发性硬化症,或脊髓损伤。有无静脉造影的颈椎MRI显示脊髓多发性硬化的证据。该患者被转诊至神经科医生,在那里确诊了多发性硬化症。10年的随访显示,患者正在通过药物控制病情,没有残疾。该病例强调了医生在没有受伤的情况下,在存在弥漫性运动力量缺陷和感觉异常的情况下,考虑神经系统疾病和高级成像的重要性。疼痛,或任何其他症状。
    We present a case report of diagnosis of cervical spine multiple sclerosis by a chiropractic physician. This unique case contributes an account of a challenging differential diagnosis to the literature. A 30-year-old male presented with a three-year history of diffuse left upper extremity motor strength deficits and paresthesia (numbness and tingling). The patient had seen multiple physicians for these symptoms with no diagnosis of multiple sclerosis and no advanced imaging. The differential diagnosis included lower cervical spine nerve root compression or neurological disorders such as amyotrophic lateral sclerosis, cerebral lesion, motor neuropathy, multiple sclerosis, or spinal cord lesion. MRI of the cervical spine with and without IV contrast revealed evidence of spinal cord multiple sclerosis. The patient was referred to a neurologist where the diagnosis of multiple sclerosis was confirmed. A 10-year follow-up showed the patient was controlling his condition with medications and had no disability. This case underscores the importance for physicians to consider neurological conditions and advanced imaging in the presence of diffuse motor strength deficits and paresthesia in the absence of injury, pain, or any other symptoms.
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  • 文章类型: Letter
    背景:解决复杂的研究挑战需要创新思维和传统方法的替代方法。一个这样的例子是手臂和手的问题,或多发性硬化症(MS)的上肢功能,一种神经系统疾病,影响全球约290万人,在英国影响超过15万人。历史上,临床试验和研究集中在行动能力和步行能力。这就排除了大量轮椅使用者的病人,限制他们的生活质量,限制获得可能有用的药物。为了解决这个问题,ThinkHand运动于2016年启动,旨在提高人们对MS上肢功能重要性的认识,并开发替代测量方法,记录,并说明手部和手臂功能的变化。
    方法:该活动在科学会议和在线调查中利用创新策略吸引受MS影响的人,医疗保健专业人员,慈善机构,和研究人员讨论保持上肢功能的重要性。通过共同设计和跨学科合作,该运动开发了新工具,例如低成本纸板版的九孔钉测试,便于手功能的远程监控。此外,该运动共同创建了“Under&Over”康复工具,允许具有高级MS的个人参与远程康复计划。ThinkHand运动的影响是巨大的,帮助转移学术和行业支持的试验的重点,包括O\'HAND和ChariotMS试验,两者都以上肢功能为主要终点。该运动以患者为中心的方法强调了在研究中认识患者观点的重要性,并挑战了既定的假设和实践。它证明了跨学科合作的有效性,系统思维,并与利益相关者共同创造解决复杂问题。
    结论:ThinkHand活动为健康研究实践提供了宝贵的见解。通过让患者参与所有阶段,研究人员可以更深入地了解疾病对他们生活的影响,找出差距,重点研究他们的需求。实验和迭代可以带来创新的解决方案,对非常规方法的开放可以推动广泛的变化。ThinkHand活动体现了以患者为中心的方法的潜力,以解决复杂的研究挑战,并彻底改变了MS研究和管理领域。采用这种方法将有助于未来更具包容性和影响力的研究。
    解决复杂的研究挑战需要创造性思维和新的做事方式。一个这样的挑战是了解多发性硬化症(MS)中手臂和手功能的问题,在英国影响超过150,000的神经系统疾病。在过去,研究主要集中在步行能力上,忽略了许多使用轮椅的人。为了解决这个问题,我们在2016年创建了ThinkHand运动。其目标是提高人们对手和手臂功能对MS(pwMS)患者的重要性的认识,并找到更好的方法来测量这些功能的变化,以便它们可以成为临床试验的结果。这可以为无法行走的pwMS提供更好的治疗途径。这场运动使用了各种方法,包括调查,社交媒体帖子,展览和音乐涉及pwMS,医疗保健专业人员,慈善机构,和研究人员在讨论这些问题。一起工作,他们创建了支持pwMS的工具,特别是那些在疾病的晚期阶段(pwAMS),参与研究并测量他们的手和手臂功能。通过我们专注于患者观点的协作方法,这场运动挑战了旧思想和根深蒂固的实践。研究表明,在研究的各个阶段,涉及pwMS的不同专业领域之间的合作可以帮助解决复杂的问题。这项运动为我们提供了宝贵的健康研究经验。当研究人员倾听患者并尝试新事物时,他们可以更好地了解疾病如何影响人们的生活,并制定更好的解决方案。总之,我们展示了采用以患者为中心的方法如何应对复杂的研究挑战,并改善我们未来研究和管理MS和其他疾病的方式.
    BACKGROUND: Solving complex research challenges requires innovative thinking and alternative approaches to traditional methods. One such example is the problem of arm and hand, or upper limb function in multiple sclerosis (MS), a neurological condition affecting approximately 2.9 million people worldwide and more than 150,000 in the United Kingdom. Historically, clinical trials and research have focused on mobility and walking ability. This excludes a large number of patients who are wheelchair users, limiting their quality of life and restricting access to possibly helpful medications. To address this issue, the ThinkHand campaign was launched in 2016, aiming to raise awareness about the importance of upper limb function in MS and develop alternative ways to measure, record, and account for hand and arm function changes.
    METHODS: The campaign utilised innovative strategies at scientific conferences and online surveys to engage people affected by MS, healthcare professionals, charities, and researchers in discussing the importance of preserving upper limb function. Through co-design and interdisciplinary collaboration, the campaign developed new tools like the low-cost cardboard version of the Nine-Hole Peg Test, facilitating remote monitoring of hand function. Additionally, the campaign co-created the \"Under & Over\" rehabilitation tool, allowing individuals with advanced MS to participate in a remote rehabilitation program.The impact of the ThinkHand campaign has been significant, helping to shift the focus of both academic and industry-supported trials, including the O\'HAND and ChariotMS trials, both using upper limb function as their primary end point. The campaign\'s patient-centred approach highlighted the importance of recognising patients\' perspectives in research and challenged established assumptions and practices. It demonstrated the effectiveness of interdisciplinary collaboration, systems thinking, and co-creation with stakeholders in tackling complex problems.
    CONCLUSIONS: The ThinkHand campaign provides valuable insights for health research practices. By involving patients at all stages, researchers can gain a deeper understanding of the impact of disease on their lives, identify gaps and focus research on their needs. Experimentation and iteration can lead to innovative solutions, and openness to unconventional methods can drive widespread change. The ThinkHand campaign exemplifies the potential of patient-centred approaches to address complex research challenges and revolutionise the field of MS research and management. Embracing such approaches will contribute to more inclusive and impactful research in the future.
    Solving complex research challenges requires creative thinking and new ways of doing things. One such challenge is understanding the problems with arm and hand function in multiple sclerosis (MS), a neurological condition that affects more than 150,000 in the United Kingdom. In the past, research focused mainly on walking ability, leaving out many people who use wheelchairs.To tackle this issue, we created the ThinkHand campaign in 2016. Its goal was to raise awareness about the importance of hand and arm function for people with MS (pwMS) and find better ways to measure changes in these functions such that they can become outcomes in clinical trials. This could provide a pathway to better treatments for pwMS who cannot walk.The campaign used various methods, including surveys, social media posts, exhibitions and music to involve pwMS, healthcare professionals, charities, and researchers in discussions about the issues. Working together, they created tools to support pwMS, particularly those at an advanced stage of the disease (pwAMS), to take part in research and measure their hand and arm function. Through our collaborative approach focusing on patients’ perspectives, the campaign challenged old ideas and deeply embedded practices. It showed that collaboration between different areas of expertise involving pwMS at all stages of research can help solve complex problems. This campaign teaches us valuable lessons for health research. When researchers listen to patients and try new things, they can better understand how a disease affects people’s lives and develop better solutions.In conclusion, we show how embracing a patient-centred approach can address complex research challenges and improve how we study and manage MS and other conditions in the future.
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  • 文章类型: Journal Article
    关于口服避孕药暴露和随后的多发性硬化症(MS)存在矛盾的数据。
    使用常规收集的主要医疗保健数据来探索口服避孕药暴露与女性人群中随后的MS之间的潜在关联。
    我们使用电子初级保健数据进行了嵌套病例对照研究,从1990年开始完成电子确认。Logistic回归用于评估避孕药暴露与MS之间的关联。没有年龄的调整,种族和剥夺。
    共包括4455名女性:891例和3564名对照。口服避孕药暴露与随后的MS之间没有相关性,或者在任何避孕药之间,联合口服避孕药(COCP)或仅孕酮丸(POP)在MS之前0-2、2-5或>5年使用。结论:在迄今为止最大的基于人群的研究中,我们没有发现口服避孕药与随后的MS诊断之间存在关联的证据.
    UNASSIGNED: Conflicting data exist around oral contraceptive exposure and subsequent multiple sclerosis (MS).
    UNASSIGNED: To use routinely collected primary healthcare data to explore the potential association between oral contraceptive exposure and subsequent MS in females at population level.
    UNASSIGNED: We performed a nested case-control study using electronic primary care data, with complete electronic ascertainment from 1990. Logistic regression was used to evaluate associations between contraceptive exposure and MS, without and with adjusting for age, ethnicity and deprivation.
    UNASSIGNED: A total of 4455 females were included: 891 cases and 3564 controls. No association was seen between oral contraceptive exposure and subsequent MS, or between any contraceptive, combined oral contraceptive pill (COCP) or progesterone-only pill (POP) use 0-2, 2-5 or >5 years prior to MS. Conclusions: In the largest population-based study to date, we find no evidence of an association between oral contraceptive exposure and subsequent MS diagnosis.
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  • 文章类型: Case Reports
    该病例描述了一名管理良好的多发性硬化症的中年男子,他经历了急性缺血性中风,原因是一种罕见的解剖学变异-重复的左小脑上动脉(SCA)。尽管他之前没有神经系统问题,患者出现严重头痛和行走困难。影像学检查证实了左SCA区域的缺血性中风,并显示了重复的左SCA。该案例强调了在卒中风险评估中考虑脑血管解剖的重要性。特别是在具有独特血管特征的个体中,例如重复的SCA,会导致血管并发症.
    The case describes a middle-aged man with well-managed multiple sclerosis who experienced an acute ischemic stroke attributed to a rare anatomical variant - a duplicated left superior cerebellar artery (SCA). Despite his prior lack of neurological issues, the patient presented with severe headaches and walking difficulties. Imaging confirmed the ischemic stroke in the left SCA territory and revealed the duplicated left SCA. This case highlights the importance of considering cerebrovascular anatomy in stroke risk assessment, especially in individuals with unique vascular features such as duplicated SCAs, which can predispose to vascular complications.
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  • 文章类型: Journal Article
    少数在临床或放射学上与其他中枢神经系统(CNS)病理相似的初始多发性硬化症(MS)表现,急性播散性脑脊髓炎(ADEM)或根癌性脱髓鞘(非典型脱髓鞘表现)。为了更好地定义该组的长期结局,我们对非典型脱髓鞘与典型MS表现进行了回顾性队列比较。确定了27例具有非典型表现(首次和随后的脱髓鞘事件)的病例,并将其与典型的MS病例进行了比较。分析的疾病特征包括复发率,残疾严重程度,整个大脑和病变体积,病变数量和分布。非典型病例占所有MS病例的3.9%。ADEM样和根癌性脱髓鞘病例的磁共振成像(MRI)特征存在相当大的重叠。类似ADEM的病例倾向于年轻,但并不明显。非典型病例在非典型表现时表现出更高的峰值扩展残疾严重程度评分(EDSS)评分的趋势。电机,颅神经,小脑,大脑和多病灶表现在非典型病例中更为常见,不太可能出现视神经炎。在非典型病例中,脑脊液(CSF)白细胞计数较高(p=0.002)。一个非典型病例与外周血髓鞘少突胶质细胞糖蛋白(MOG)抗体有关,但是随后的临床和放射学过程与MS保持一致。包括年复发率(ARR)在内的长期临床结果没有差异,脑容量,病变数量或病变分布。非典型脱髓鞘病例更有可能在病程早期接受高效疾病修饰治疗。尽管最初的疾病很严重,我们的队列分析提示,非典型脱髓鞘表现并不导致长期不良结局的高风险.
    A minority of initial multiple sclerosis (MS) presentations clinically or radiologically resemble other central nervous system (CNS) pathologies, acute disseminated encephalomyelitis (ADEM) or tumefactive demyelination (atypical demyelination presentations). With the aim of better defining the long-term outcomes of this group we have performed a retrospective cohort comparison of atypical demyelination versus \'typical\' MS presentations. Twenty-seven cases with atypical presentations (both first and subsequent demyelinating events) were identified and compared with typical MS cases. Disease features analysed included relapse rates, disability severity, whole brain and lesion volumes, lesion number and distribution. Atypical cases represented 3.9% of all MS cases. There was considerable overlap in the magnetic resonance imaging (MRI) features of ADEM-like and tumefactive demyelination cases. ADEM-like cases tended to be younger but not significantly so. Atypical cases showed a trend towards higher peak expanded disability severity score (EDSS) score at the time of their atypical presentation. Motor, cranial nerve, cerebellar, cerebral and multifocal presentations were all more common in atypical cases, and less likely to present with optic neuritis. Cerebrospinal fluid (CSF) white cell counts were higher in atypical cases (p = 0.002). One atypical case was associated with peripheral blood myelin oligodendrocyte glycoprotein (MOG) antibodies, but subsequent clinical and radiological course was in keeping with MS. There was no difference in long-term clinical outcomes including annualised relapse rates (ARR), brain volume, lesion numbers or lesion distributions. Atypical demyelination cases were more likely to receive high potency disease modifying therapy early in the course of their illness. Despite the severity of initial illness, our cohort analysis suggests that atypical demyelination presentations do not confer a higher risk of long-term adverse outcomes.
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  • 文章类型: Letter
    暂无摘要。
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  • 文章类型: Case Reports
    SARS-CoV-2是呼吸道疾病COVID-19的来源。它通常表现为限制性肺部症状,但自身免疫功能障碍可能偶尔会出现。COVID-19感染可能导致多系统结缔组织疾病,称为系统性硬化症(SSc)。在从COVID-19中康复的患者中,自身免疫可能有多种潜在原因。
    作者报告了一名68岁的女性,感染COVID-19后1个月,主诉呼吸困难和肌肉衰竭。患者接受了COVID后综合征治疗。她出现了慢性呼吸困难的症状,苍白的手指,皱起的嘴唇,咀嚼和吞咽困难,7周后肌肉无力。胸部高分辨率计算机断层扫描(HRCT)扫描提示间质性肺病。临床特征和包含抗Ro52和抗着丝粒抗体的自身抗体谱指向SSc。她接受了减少剂量的硫唑嘌呤和泼尼松龙治疗,她现在每月随访稳定。
    COVID-19可能诱导细胞因子风暴和免疫调节失调,最终导致自身免疫表现。在COVID-19感染后患者的自身免疫性疾病中观察到几种自身抗体。我们的情况是不同的,因为COVID-19感染后的SSc并不通常被视为自身免疫性疾病。
    罕见自身免疫性疾病患者的数量,像SSc,COVID-19之后一直在上升。因此,我们应该考虑自身免疫性疾病的可能性,当调查一个患者出现奇怪的或有新的症状后,应立即联系患者的管理。
    UNASSIGNED: The SARS-CoV-2 is the source of COVID-19, a respiratory disease. It typically manifests as restricted pulmonary symptoms, but autoimmune dysfunction might occasionally show up. A COVID-19 infection may cause a multi-system connective tissue disease known as systemic sclerosis (SSc). In patients who recovered from COVID-19, autoimmunity may have multiple underlying causes.
    UNASSIGNED: The authors report the case of a 68-year-old female who, 1 month after contracting COVID-19, complained of dyspnoea and muscle exhaustion. The patient was treated for post-COVID syndrome. She developed symptoms of chronic dyspnoea, pale fingers, pursed lips, trouble chewing and swallowing, and muscle weakness after 7 weeks. A chest high-resolution computerised tomography (HRCT) scan suggested interstitial lung disease. Clinical characteristics and an autoantibody profile containing anti-Ro 52 and anti-centromere antibodies pointed towards SSc. She was treated with azathioprine and prednisolone at a reduced dosage, and she is now stable with monthly follow-ups.
    UNASSIGNED: COVID-19 might induce cytokine storms and immunological dysregulation, ultimately culminating in autoimmune manifestations. Several autoantibodies are observed in autoimmune illnesses in post-COVID-19 infection patients. Our situation is distinct because SSc following a COVID-19 infection is not commonly seen as an autoimmune illness.
    UNASSIGNED: The number of patients with rare autoimmune diseases, like SSc, following COVID-19 has been rising. Therefore, we should consider the possibility of autoimmune disease when looking into a patient who presents strangely or has developed new symptoms after COVID and should contact the patient\'s management immediately.
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  • 文章类型: Case Reports
    重叠的自身免疫性疾病用于描述同一患者中多于一种自身免疫性疾病的共存。混合性结缔组织病(MCTD)和抗合成酶综合征(ASS)是表现为肺部受累的自身免疫性疾病,表现为持续性呼吸困难。同一患者中两种情况的共存极为罕见。我们在此报告一例44岁女性,在类风湿关节炎(抗环瓜氨酸肽(抗CCP)抗体)的背景下被诊断为具有ASS(抗Jo-1抗体)特征的MCTD,这表明用皮质类固醇和霉酚酸酯治疗后呼吸暂时改善。然而,霉酚酸酯完成后,患者的抗Jo-1抗体阴性,抗CCP抗体阳性.我们的案例强调需要识别具有复杂临床特征和表现的患者的重叠自身免疫状况,并立即应用全面的诊断方法和量身定制的治疗策略。早期诊断和积极治疗对于实现缓解和预防器官损伤至关重要。
    Overlapping autoimmune disorders are used to describe the coexistence of more than one autoimmune disease in the same patient. Mixed connective tissue disease (MCTD) and anti-synthetase syndrome (ASS) are autoimmune diseases that manifest with pulmonary involvement, presenting as persistent dyspnea. The coexistence of both conditions in the same patient is extremely rare. We herein report a case of a 44-year-old female who was diagnosed with MCTD with features of ASS (anti-Jo-1 antibody) in the setting of rheumatoid arthritis (anti-cyclic citrullinated peptide (anti-CCP) antibody), which shows temporary breathing improvement following treatment with corticosteroid and mycophenolate mofetil. However, after the completion of mycophenolate mofetil, she was found to be anti-Jo-1 antibody negative and anti-CCP antibody positive. Our case emphasizes the need to recognize overlapping autoimmune conditions in patients with complex clinical features and presentations with the immediate application of a comprehensive diagnostic approach and tailored treatment strategies. Early diagnosis and aggressive treatment are crucial for achieving remission and preventing organ damage.
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