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Neurosciences and Nobel Prizes in Medicine and Physiology, A Brief Historical Sketch 神经科学与诺贝尔医学和生理学奖,历史简述
Pub Date : 2023-12-19 DOI: 10.58624/svoane.2023.04.0118
Enrique Marcos Sierra Benitez
In order to stimulate and promote the development of humanity, Alfred Bernhard Nobel, in his will, established with his fortune a fund with which the best exponents in Literature, Physiology or Medicine, Physics, Chemistry and Peace would be rewarded. Over the years, awardees have come from various fields related to physiology and medicine. This review was motivated by the large number of Nobel Prize winners in Medicine and Physiology in the neuroscientific field. Despite there being numerous publications about this award, there are few that specifically deal with neuroscience, so it was decided to briefly describe it. the Nobel Prizes that were awarded to this branch of medicine, highlighting those that were considered most important by the authors and mentioning the others.
为了激励和促进人类的发展,阿尔弗雷德-伯恩哈德-诺贝尔在遗嘱中用自己的财产设立了一个基金,用于奖励文学、生理学或医学、物理学、化学及和平领域的杰出人士。多年来,获奖者来自与生理学和医学有关的各个领域。这次回顾的动机是,神经科学领域的诺贝尔医学奖和生理学奖获得者人数众多。尽管有关该奖项的出版物很多,但专门涉及神经科学的却很少,因此决定简要介绍一下。
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引用次数: 0
A 66-Year-Old Woman Presented with Sudden Onset Eye Pain and Loss of Vision: Do Not Miss MOGAD 一名 66 岁女性突发眼痛并丧失视力:不要错过 MOGAD
Pub Date : 2023-12-19 DOI: 10.58624/svoane.2023.04.0119
Tarek Matar, Mamoun Saeed, Eleanor Taylor, Olga Kirmi, Fatima Jaffer
A 66 -year- old woman presented to ED with sudden onset eye pain and unilateral loss of vision. She had considerable vascular risk factors including age, hypertension, diabetes mellitus and hypercholesterolemia. She was referred to neurology service with possible arteritic anterior ischemic optic neuropathy (AION). Given her age, painful visual loss and raised ESR, she was treated with steroids for possible giant cell arteritis (GCA). Because of her psychiatric history and poorly controlled diabetes mellitus, steroids were weaned quickly. 6 months later, she had a similar presentation affecting the other eye. MRI head showed disease progression with positive myelin oligodendrocyte glycoprotein (MOG) antibody in serum. MOG associated disorder (MOG-AD) is a steroid responsive inflammatory demyelinating disease but needs long term immunosuppression plan and monitoring of serum antibody.
一名 66 岁的妇女因突发性眼痛和单侧视力下降到急诊室就诊。她有相当多的血管危险因素,包括年龄、高血压、糖尿病和高胆固醇血症。她被转诊到神经内科,可能患有动脉前部缺血性视神经病变(AION)。鉴于她的年龄、疼痛性视力减退和血沉增快,医生以可能患有巨细胞动脉炎(GCA)为由对她进行了类固醇治疗。由于她有精神病史且糖尿病控制不佳,类固醇很快就被停用了。6 个月后,她的另一只眼睛也出现了类似症状。头部核磁共振成像显示疾病进展,血清中髓鞘少突胶质细胞糖蛋白(MOG)抗体阳性。MOG 相关疾病(MOG-AD)是一种类固醇反应性炎症性脱髓鞘疾病,但需要长期的免疫抑制计划和血清抗体监测。
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引用次数: 0
Hyperglycemic Hemicoreorea/Hemiballism 高血糖血红蛋白症/血球症
Pub Date : 2023-12-13 DOI: 10.58624/svoane.2023.04.0116
Ignacio Saguier Padilla
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引用次数: 0
A Clinical Audit: Assessing the Diagnostic Delay of Primary Brain Tumors, Glioblastoma IDH-Wild Type and Primary CNS Lymphoma; Exploring the Use of CSF Liquid Biopsy 临床审计:评估原发性脑肿瘤、IDH-野生型胶质母细胞瘤和原发性中枢神经系统淋巴瘤的诊断延迟;探索脑脊液液体活检的应用
Pub Date : 2023-12-12 DOI: 10.58624/svoane.2023.04.0117
Sana J. Ghosheh
Background: Diagnostic delay is a critical issue in healthcare, often leading to delayed treatment and poor patient outcomes. Diagnostic errors contribute to about 10% of patient deaths annually. Delays are very prevalent in Glioblastoma and Primary CNS Lymphoma. Both have an aggressive nature and a short survival rate, which urges for early diagnosis to ensue treatment as quick as possible. The delayed diagnosis can be attributed to tumor-specific factors such as challenging differential diagnoses, inadequate methods in achieving optimal outcomes, and the presence of confounding factors like steroid usage. Aims and Objectives: The objective of this clinical audit is to analyse patient records within an oncology unit. The primary goal is to assess the quality of practice by evaluating the standards of diagnosis and treatment. Additionally, the audit aims to pinpoint areas that require improvement at every stage of patient management, encompassing administration, symptom evaluation, and post-therapeutic measures. Based on these findings, a comprehensive plan of action will be proposed to address the identified issues effectively. Standards and Methods: In this Clinical Audit, we assessed the adherence of 10 Glioblastoma and PCNSL patients in a neuro oncology unit, to standards and guidelines set by professional medical associations. Which include World Health Organisation (WHO), National Health Service England (NHS), and European Association of Neuro-oncology (EANO). Results: Our cohort showed long diagnostic delays, minimum and maximum values of 30 and 1825 days. The sample did not show significantly longer delays compared to other PCNSL or HGG patients, all collected from the literature, with p values of 0.174 and 0.637, respectively. Conclusions: In Conclusion, Diagnostic Delay attributed to PCNSL and Glioblastoma can be pinpointed to the inadequacy of existing standards in relying solely on stereotactic biopsies for definite diagnosis when it may not be ideal for all patients at all tumor stages. A plan of action encouraging large clinical trials of CSF Liquid Biopsy is recommended with an employment of recent advances and focusing on detecting circular tumor DNA for the diagnostic insight it provides. As well as exploring its use during or post therapy to monitor the lesion and pathology. To also adhere strictly to the discouragement of steroid use for the negative prognostic factors it causes.
背景:诊断延误是医疗保健中的一个关键问题,通常会导致治疗延误和不良的患者预后。每年约有 10% 的患者因诊断错误而死亡。诊断延误在胶质母细胞瘤和原发性中枢神经系统淋巴瘤中非常普遍。这两种疾病都具有侵袭性,存活率较低,因此需要尽早诊断,尽快治疗。延迟诊断可归因于肿瘤特异性因素,如具有挑战性的鉴别诊断、实现最佳疗效的方法不足,以及存在类固醇使用等混杂因素。目的和目标:本次临床审核的目的是分析肿瘤科的病历。主要目的是通过评估诊断和治疗标准来评估实践质量。此外,审核还旨在找出在患者管理的各个阶段(包括用药、症状评估和治疗后措施)需要改进的地方。根据这些发现,将提出一项全面的行动计划,以有效解决发现的问题。标准和方法:在本次临床审计中,我们评估了神经肿瘤科 10 名胶质母细胞瘤和 PCNSL 患者对专业医学协会制定的标准和指南的遵守情况。其中包括世界卫生组织 (WHO)、英国国家医疗服务体系 (NHS) 和欧洲神经肿瘤协会 (EANO)。结果:我们的样本显示诊断延误时间较长,最短和最长分别为 30 天和 1825 天。与其他 PCNSL 或 HGG 患者相比,样本的延误时间并没有明显延长,P 值分别为 0.174 和 0.637。结论总之,PCNSL 和胶质母细胞瘤的诊断延迟可归咎于现有标准的不足,即仅依靠立体定向活检来明确诊断,而这一方法并不适合所有肿瘤阶段的所有患者。建议制定一项行动计划,鼓励对 CSF 液体活检进行大规模临床试验,利用最新进展,重点检测环状肿瘤 DNA,以提供诊断依据。同时探索其在治疗期间或治疗后的应用,以监测病变和病理情况。还要严格遵守不鼓励使用类固醇的规定,因为这会导致不良预后因素。
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引用次数: 0
The Delayed Diagnosis of Juvenile Myoclonic Epilepsy in Young Adults: A Scoping Review 青少年肌阵挛性癫痫的延迟诊断:范围综述
Pub Date : 2023-11-29 DOI: 10.58624/svoane.2023.04.0113
Sara Abdullah Albuainain, Amal Abdullah Almutairi, Elham Saleh Al-Zahrani, Atheer Abdullah Alsalem, Mohammed Salah Elmagzoub, Amina Sabry
Introduction: The most prevalent idiopathic generalized epilepsies of adolescence and early adulthood is juvenile myoclonic epilepsy (JME). Its diagnosis is usually missed, wrongly labeled, and frequently delayed worldwide. This scoping review focused on the factors that contribute to JME diagnosis delays and how to avoid them. Methodology: The preferred reporting items for systematic reviews and meta-analysis protocols for comparative published articles were used. To determine the factors that cause the delay of diagnosis of JME, a search in PubMed and ScienceDirect (Summon) using keywords "JME" and "Janz epilepsy" revealed a sum of 13410 articles. However, when including the keywords; 'delayed diagnosis', 'human',' English language', 'young adults' and 'free full text'; and excluded 'duplicated and unrelated articles we remained with 15 articles. The participants were young adult patients. Results: Out of the 15 articles two have reported a delay in the diagnosis of JME by14 years, while the rest varied from 1 to 11 years. With the mean age of delay being 20 ±10 years. One of the various reasons contributing to this delay is failure to elicit a myoclonic jerk history due to lack of familiarity with the syndrome which accounted for 93.3%, followed by misleading or misinterpretation of EEG 86.6%, normal EEG 80%, presenting initial seizure with GTC 66.67% and patients fail to mention their own myoclonic jerks 60%. Conclusion: Despite well-defined diagnostic criteria and growing public knowledge of JME, misdiagnosis remains an issue that causes the delay by several years.
简介青少年和成年早期最常见的特发性全身癫痫是青少年肌阵挛性癫痫(JME)。在全球范围内,该病通常被漏诊、误诊,并经常被延误诊断。本次范围界定综述的重点是导致 JME 诊断延误的因素以及如何避免这些因素。研究方法:采用系统综述的首选报告项目和荟萃分析协议对已发表的文章进行比较。为了确定导致JME诊断延误的因素,使用关键词 "JME "和 "扬兹癫痫 "在PubMed和ScienceDirect(Summon)上进行了搜索,共发现了13410篇文章。然而,如果将关键词 "延迟诊断"、"人类"、"英语"、"年轻成人 "和 "免费全文 "包括在内,并排除 "重复和不相关的文章",我们还能找到 15 篇文章。参与者为年轻的成年患者。研究结果在这15篇文章中,有两篇报道了JME的诊断延迟了14年,其余文章的延迟时间从1年到11年不等。平均延迟年龄为 20 ± 10 岁。导致延误的各种原因之一是由于对该综合征缺乏了解而未能获得肌阵挛性抽搐病史,占 93.3%;其次是对脑电图的误导或曲解,占 86.6%;脑电图正常,占 80%;最初发作时出现 GTC,占 66.67%;患者未提及自己的肌阵挛性抽搐,占 60%。结论尽管有明确的诊断标准,公众对 JME 的认识也在不断提高,但误诊仍是一个问题,导致延误数年。
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引用次数: 0
The Gut Microbiome: Unveiling its Potential Role in Dementia Risk 肠道微生物组:揭示其在痴呆症风险中的潜在作用
Pub Date : 2023-11-24 DOI: 10.58624/svoane.2023.04.0112
Asia Filatov
Dementia is a prevalent neurodegenerative disorder characterized by cognitive decline and functional impairment. The gut microbiome, a complex ecosystem of microorganisms residing in the gastrointestinal tract, has emerged as a potential contributor to dementia risk. This paper presents a comprehensive review of the existing literature, analyzing 20 relevant studies to explore the role of the gut microbiome in dementia risk. The findings highlight the potential mechanisms underlying this association and discuss potential therapeutic interventions. The results suggest that the gut microbiome may play a significant role in modulating brain health and cognitive function, providing new avenues for understanding and managing dementia.
痴呆症是一种以认知能力下降和功能障碍为特征的神经退行性疾病。肠道微生物组是居住在胃肠道中的微生物组成的复杂生态系统,已成为痴呆症风险的潜在因素。本文对现有文献进行了全面回顾,分析了 20 项相关研究,以探讨肠道微生物组在痴呆症风险中的作用。研究结果强调了这种关联的潜在机制,并讨论了潜在的治疗干预措施。研究结果表明,肠道微生物组可能在调节大脑健康和认知功能方面发挥着重要作用,为了解和管理痴呆症提供了新的途径。
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引用次数: 0
Decompressive Craniectomy Versus Cisternostomy in Traumatic Intracranial Hypertension. Systematic Review 外伤性颅内高压症的减压颅骨切除术与蝶窦造口术。系统回顾
Pub Date : 2023-11-23 DOI: 10.58624/svoane.2023.04.0111
Enrique Marcos Sierra Benitez
To compare the usefulness of decompressive craniectomy versus cisternostomy in the surgical management of Traumatic Intracranial Hypertension was the objective of the present bibliographic review. A search was carried out for articles in journals from the databases: PubMed, Scielo and EBSCO. The key words used were: intracranial hypertension, severe craniocerebral trauma, decompressive craniectomy and cisternostomy. Searches were conducted with these terms in English and Spanish. Articles with the full text were consulted, published mainly between 2015 and 2023 in Spanish or English, although in multicenter and multinational studies with high global impact on the topic, the year of publication was not taken into account, given the importance of its inclusion in the present review. Articles that reflected controversies about Decompressive Craniectomy and Cisternostomy as a measure in ICH refractory to medical treatment were selected with priority. Decompressive craniectomy and Cisternostomy are surgical methods that have been shown to reduce intracranial pressure and mortality in patients with traumatic intracranial hypertension refractory to medical therapy, although decompressive craniectomy presents a higher and more reliable level of evidence than cisternostomy, the new mechanisms for reducing intracranial pressure in the latter procedure seem promising in the near future.
本文献综述旨在比较减压开颅术与蝶窦切开术在创伤性颅内高压症手术治疗中的作用。我们从以下数据库中搜索了相关期刊中的文章:PubMed、Scielo 和 EBSCO。使用的关键词包括:颅内高压、严重颅脑创伤、减压开颅术和蝶窦切开术。这些词均以英语和西班牙语进行检索。查阅了主要发表于 2015 年至 2023 年之间的西班牙文或英文全文文章,但对于该主题具有高度全球影响力的多中心和跨国研究,考虑到将其纳入本综述的重要性,不考虑发表年份。我们优先选择了那些反映减压开颅术和蝶窦造口术作为治疗药物难治性 ICH 的一种措施存在争议的文章。减压开颅术和蝶窦造口术是已证明可降低药物治疗难治性外伤性颅内高压患者颅内压和死亡率的手术方法,尽管减压开颅术的证据水平比蝶窦造口术更高、更可靠,但后者降低颅内压的新机制在不久的将来似乎很有希望。
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引用次数: 0
Neglected Alkaptonuric Patients Presented with Symptomatic Degenerative Disc Disorders: Report of Two Cases and Review of Literature 被忽视的阿尔卡普通尿患者伴有症状性椎间盘退行性病变:两个病例的报告和文献综述
Pub Date : 2023-11-17 DOI: 10.58624/svoane.2023.04.0110
Navid Faraji, Seyed Reza Etemadoleslami Bakhtiari, Mavlonov Jaloliddin Begijonovich, Bahodurov Subhonidin Sharafiddinovich, Davlatov Manuchekhr Valievich, Daniel Kheradmand, Saba Delasaeimarvi, Seyed Ali Shariat Razavi, Masoumeh Taghdisi
Alkaptonuria (AKU) is a rare autosomal disorder characterized by the accumulation of excess homogentisic acid (HGA) in connective tissues. Herein, we report the uncommon presentation of degenerative lumbar disc disease occurring in two patients with AKU warranting spinal surgery. We report two cases of symptomatic disc herniation and vertebral canal stenosis, presented with radiculopathy and progressive neurogenic claudication, respectively. During spinal surgery, blackened ligamentum flavum and intervertebral disc raised the suspicion of a metabolic disorder. Re-examination of patients revealed nose and ear cartilage discoloration in only one of them, however, histopathological findings and urinalysis were confirmatory for AKU in both. Notwithstanding the rarity of AKU, spine surgeons must be vigilant in their examination and diagnosis, and should not exclude any possible diagnosis without thorough consideration.
钾离子尿症(AKU)是一种罕见的常染色体疾病,其特征是结缔组织中积累过量的高戊酸(HGA)。在此,我们报告了两名 AKU 患者罕见的腰椎间盘退行性病变,需要进行脊柱手术治疗。我们报告了两例有症状的椎间盘突出症和椎管狭窄症患者,他们分别出现了根性病变和进行性神经源性跛行。在脊柱手术过程中,黄韧带和椎间盘变黑引起了代谢紊乱的怀疑。对患者的再次检查发现,只有其中一人的鼻子和耳朵软骨变色,但组织病理学结果和尿液分析证实两人都患有 AKU。尽管 AKU 很罕见,但脊柱外科医生在检查和诊断时必须保持警惕,不应未经全面考虑就排除任何可能的诊断。
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引用次数: 0
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SVOA Neurology
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