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Basilar web and basilar fenestration: a case report 基底膜网和基底膜开裂:病例报告。
Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.010
J.M. Fernández-Vidal , M. Guasch-Jiménez , I. Ruiz-Barrio , B. Gómez-Ansón , M. Tecame , J. Martí-Fàbregas
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引用次数: 0
Fatigue in patients with acquired brain damage 后天性脑损伤患者的疲劳。
Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.008
A. Juárez-Belaúnde , E. Orcajo , S. Lejarreta , P. Davila-Pérez , N. León , A. Oliviero

Fatigue is a complex, multidimensional syndrome that is prevalent in patients with acquired brain damage and has a negative impact on the neurorehabilitation process. It presents from early stages after the injury, and may persist over time, regardless of whether sequelae have resolved. Fatigue is conditioned by upper neuronal circuits, and is defined as an abnormal perception of overexertion. Its prevalence ranges from 29% to 77% after stroke, from 18% to 75% after traumatic brain injury, and from 47% to 97% after brain tumours. Fatigue is associated with factors including female sex, advanced age, dysfunctional families, history of specific health conditions, functional status (eg, fatigue prior to injury), comorbidities, mood, secondary disability, and the use of certain drugs. Assessment of fatigue is fundamentally based on such scales as the Fatigue Severity Scale (FSS). Advances have recently been made in imaging techniques for its diagnosis, such as in functional MRI. Regarding treatment, no specific pharmacological treatment currently exists; however, positive results have been reported for some conventional neurorehabilitation therapies, such as bright light therapy, neurofeedback, electrical stimulation, and transcranial magnetic stimulation. This review aims to assist neurorehabilitation professionals to recognise modifiable factors associated with fatigue and to describe the treatments available to reduce its negative effect on patients.

疲劳是后天性脑损伤患者普遍存在的一种复杂的多维综合征,对神经康复过程有负面影响。疲劳从损伤后的早期阶段开始出现,并可能持续一段时间,无论后遗症是否已经消除。疲劳受上部神经元回路的制约,被定义为对过度疲劳的异常感知。中风后的发病率从 29% 到 77%,脑外伤后的发病率从 18% 到 75%,脑肿瘤后的发病率从 47% 到 97%。疲劳与多种因素有关,包括女性、高龄、家庭功能失调、特定健康状况史、功能状态(如受伤前的疲劳)、合并症、情绪、继发性残疾以及使用某些药物。疲劳评估的基本依据是疲劳严重程度量表(FSS)等量表。最近,用于诊断疲劳的成像技术也取得了进展,如功能性核磁共振成像。在治疗方面,目前还没有特定的药物治疗方法;不过,一些传统的神经康复疗法,如强光疗法、神经反馈、电刺激和经颅磁刺激等,都取得了积极的效果。本综述旨在帮助神经康复专业人员识别与疲劳相关的可改变因素,并介绍可用于减少疲劳对患者负面影响的治疗方法。
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引用次数: 0
Spanish normative studies (NEURONORMA-Plus project): norms for the Delis Kaplan-Design Fluency Test, Color Trails Test, and Dual Task 西班牙标准研究(NEURONORMA-Plus 项目):德利斯-卡普兰设计流畅性测试、色彩轨迹测试和双重任务的标准
Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2021.05.013
G. García-Escobar , C. Pérez-Enríquez , C. Arrondo-Elizarán , B. Pereira-Cuitiño , L. Grau-Guinea , M. Florido-Santiago , J. Piqué-Candini , R.M. Manero , A. Puig-Pijoan , J. Peña-Casanova , G. Sánchez-Benavides

Introduction

Complex attention and non-verbal fluency tasks are used in neuropsychological assessments with the aim of exploring subdomains of executive function. The purpose of this study is to provide norms and age-, education-, and sex-adjusted data for the Delis Kaplan-Design Fluency Test (DK-DFT), Color Trails Test (CTT), and Dual Task (DT) as part of the NEURONORMA-Plus project.

Methods

The sample included 308 cognitively unimpaired individuals aged between 18 and 92 years. Raw scores were converted to age-adjusted scaled scores. These were further converted into education- and sex-adjusted scaled scores by applying linear regression, with 2 age groups (< 50 and ≥ 50 years).

Results

Overall, age had a negative impact on DK-DFT and CTT performance. We observed a positive effect of education on DK-DFT scores only in the older group (≥ 50 years). Moreover, younger men performed slightly better in the basic condition of this test. Education was positively associated with all CTT scores in both age groups, with the exception of the CTT-1 subtest in the younger group. Age and education did not influence DT performance, whereas sex did, with young women performing slightly better.

Conclusions

These normative data may be useful in the interpretation of neuropsychological assessments in the Spanish population.

导言:神经心理学评估中使用了复杂注意力和非语言流畅性任务,目的是探索执行功能的子域。作为 NEURONORMA-Plus 项目的一部分,本研究旨在提供德利斯-卡普兰设计流畅性测验(DK-DFT)、色彩轨迹测验(CTT)和双重任务(DT)的标准和经年龄、教育和性别调整的数据。原始分数被转换为年龄调整后的比例分数。结果总体而言,年龄对 DK-DFT 和 CTT 的表现有负面影响。我们观察到,只有在年龄较大的组别(≥ 50 岁)中,教育程度对 DK-DFT 分数有积极影响。此外,年轻男性在该测试的基本条件下表现略好。教育程度与两个年龄组的所有 CTT 分数都呈正相关,但年轻组的 CTT-1 小测验除外。年龄和教育程度对 DT 成绩没有影响,而性别则有影响,年轻女性的 DT 成绩略好于男性。
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引用次数: 0
Osmotic demyelination syndrome amidst COVID-19: A case report with literature review COVID-19中的渗透性脱髓鞘综合征:病例报告与文献综述
Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2023.11.001
G. Dimitrov , D. Naeva , R. Duparinova , S. Stratieva , V. Manev , K. Prinova
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引用次数: 0
Theory of mind in neurodevelopmental disorders: beyond autistic spectrum disorder 神经发育障碍中的心智理论:超越自闭症谱系障碍。
Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.005
A. Pérez-Vigil , D. Ilzarbe , B. Garcia-Delgar , A. Morer , M. Pomares , O. Puig , S. Lera-Miguel , M. Rosa , M. Romero , R. Calvo Escalona , L. Lázaro

Introduction

Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group.

Methods

Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the "Stories from everyday life" task and the "Reading the mind in the eyes” test).

Results

Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls.

Conclusions

ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.

导言:心智理论(ToM)是人类感知、解释和归因他人心理状态的能力,这种认知功能的改变是自闭症谱系障碍(ASD)的核心症状。其他神经发育障碍,如儿童期发病的强迫症(OCD)和抽动秽语综合征(TS)也会出现认知功能障碍,但对ToM的研究却不多,尤其是在年轻人群中。本研究旨在比较被诊断患有强迫症、抽动秽语综合症或自闭症的青少年群体与对照组之间的高级 ToM:我们对主要诊断为强迫症(19 人)、TS(14 人)或 ASD(18 人)的 11 至 17 岁男性患者和对照组(20 人)进行了临床访谈。我们使用了用于评估智商和精神症状严重程度的工具,以及用于评估ToM的任务("日常生活中的故事 "任务和 "读懂眼中的思想 "测试):结果:患有TS和ASD的年轻人在完成高级ToM任务时表现出相似的困难,而儿童期强迫症患者的结果与对照组相似:结论:ToM 在 ASD 以外的其他神经发育障碍(如 TS)中也会发生改变。
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引用次数: 0
Benign episodic unilateral mydriasis: case report, topographic and clinical approach 良性发作性单侧眼球震颤;病例报告、地形图和临床方法。
Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.009
Valeria Valencia-Cifuentes , Jairo A. Quiñones
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引用次数: 0
The potential diagnostic accuracy of circulating microRNAs for Alzheimer's disease: A meta-analysis 循环微RNA对阿尔茨海默病的潜在诊断准确性:荟萃分析
Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2023.12.011
W.T. Zhang , G.X. Zhang , S.S. Gao

Background & objective

Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disease that seriously affects cognitive ability and has become a key public health problem. Many studies have identified the possibility of peripheral blood microRNA as effective non-invasive biomarkers for AD diagnosis, but the results are inconsistent. Therefore, we carried out this meta-analysis to evaluate the diagnostic accuracy of circulating microRNAs in the diagnosis of AD patients.

Methods

We performed a systematic literature search of the following databases: PubMed, EMBASE, Web of Science, Cochrane Library, Wanfang database and China National Knowledge Infrastructure, updated to March 15, 2021. A random effects model was used to pool the sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio and area under the curve. Meta-regression and subgroup analysis were performed to explore the sources of heterogeneity, and Deeks’ funnel plot was used to assess whether there was publication bias.

Results

62 studies from 18 articles were included in this meta-analysis. The pooled sensitivity was 0.82 (95% CI: 0.78–0.85), specificity was 0.80 (95% CI: 0.76–0.83), PLR was 4. 1 (95% CI: 3.4–4.9), NLR was 0.23 (95% CI: 0.19–0.28), DOR was 18 (95% CI: 13–25) and AUC was 0.88 (95% CI: 0.84–0.90). Subgroup analysis shows that the microRNA clusters of plasma type performed a better diagnostic accuracy of AD patients. In addition, publication bias was not found.

Conclusions

Circulating microRNAs can be used as a promising non-invasive biomarker in AD diagnosis.

背景& 目标阿尔茨海默病(AD)是一种进行性、不可逆的神经退行性疾病,严重影响认知能力,已成为一个重要的公共卫生问题。许多研究发现外周血微RNA可能是诊断AD的有效非侵入性生物标志物,但结果并不一致。因此,我们进行了这项荟萃分析,以评估循环 microRNA 在诊断 AD 患者中的诊断准确性:我们对以下数据库进行了系统的文献检索:PubMed、EMBASE、Web of Science、Cochrane Library、万方数据库和中国国家知识基础设施(更新至 2021 年 3 月 15 日)。采用随机效应模型对灵敏度、特异性、阳性似然比、阴性似然比、诊断几率比和曲线下面积进行汇总。进行了元回归和亚组分析以探索异质性的来源,并使用迪克斯漏斗图评估是否存在发表偏倚。汇总灵敏度为 0.82(95% CI:0.78-0.85),特异性为 0.80(95% CI:0.76-0.83),PLR 为 4.1(95% CI:3.4-4.9),NLR 为 0.23(95% CI:0.19-0.28),DOR 为 18(95% CI:13-25),AUC 为 0.88(95% CI:0.84-0.90)。亚组分析表明,血浆型微RNA群对AD患者的诊断准确率更高。结论循环微RNA可作为诊断AD的一种前景看好的非侵入性生物标记物。
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引用次数: 0
Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis 儿科假性脑瘤:临床特征、治疗和预后。
Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.004
F. Labella Álvarez , J.A. Fernández-Ramos , R. Camino León , E. Ibarra de la Rosa , E. López Laso

Introduction

Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status.

Patients and methods

We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up.

Results

We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients.

Conclusion

Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients.

导言:青春期前的假性脑瘤(PC)患者表现出与青春期后不同的某些特征。本研究旨在描述本中心确诊的假性脑瘤儿科患者的特征,并根据患者的青春期状况对其进行比较:我们纳入了 2006 年至 2019 年期间在一家三级医院确诊为 PC 的 1 至 18 岁患者,他们均符合 PC 的最新诊断标准。我们根据体重和青春期状况对他们进行了分类。随后,我们分析了腰椎穿刺、神经影像学研究、眼科评估结果以及随访期间接受的治疗:结果:我们共纳入了 28 名患者,其中 22 人为青春期前年龄,6 人为青春期后年龄。平均年龄(标准差)为 9.04(2.86)岁。在青春期后的患者中,83.3%为男孩,其中66.7%表现为超重/肥胖。在青春期前的患者中,27%为男孩,其中31.8%超重。最常见的症状是头痛(89.9%)和视力模糊(42.9%)。所有患者均出现乳头水肿,21.4%表现为第六神经麻痹。28.6%的病例找到了可能的诱发因素。19%的患者出现临床复发,他们都是青春期前的患者。55.6%的患者临床症状完全消失:结论:与青春期后的患者相比,青春期前的 PC 患者肥胖发生率较低,继发病因发生率较高,复发率较高。
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引用次数: 0
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease. Charcot-Marie-Tooth 疾病诊断和管理临床实践指南。
Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.02.008
R Sivera Mascaró, T García Sobrino, A Horga Hernández, A L Pelayo Negro, A Alonso Jiménez, A Antelo Pose, M D Calabria Gallego, C Casasnovas, C A Cemillán Fernández, J Esteban Pérez, M Fenollar Cortés, M Frasquet Carrera, M P Gallano Petit, A Giménez Muñoz, G Gutiérrez Gutiérrez, A Gutiérrez Martínez, R Juntas Morales, N L Ciano-Petersen, P L Martínez Ulloa, S Mederer Hengstl, E Millet Sancho, F J Navacerrada Barrero, F E Navarrete Faubel, J Pardo Fernández, S I Pascual Pascual, J Pérez Lucas, J Pino Mínguez, M Rabasa Pérez, M Sánchez González, J Sotoca, B Rodríguez Santiago, R Rojas García, J Turon-Sans, V Vicent Carsí, T Sevilla Mantecón

Introduction: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain.

Material and methods: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons.

Recommendations: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

简介Charcot-Marie-Tooth (CMT) 病是根据神经生理学和组织学检查结果、遗传模式和潜在基因缺陷进行分类的。近年来,随着新一代测序技术的出现,遗传复杂性呈指数级增长,扩大了对疾病路径的了解,并对临床管理产生了影响。本指南旨在为西班牙该疾病的诊断、预后、监测和治疗提供建议:本共识指南由一个多学科小组制定,小组成员包括神经科医生、神经儿科医生、遗传学家、康复师和矫形外科医生等众多专业人士:诊断以临床特征为基础,通常表现为共同的表型。随后应进行适当的神经生理学研究,以便进行正确的分类,并就应包括的参数提出具体建议。基因诊断必须按顺序进行,一旦排除了 PMP22 复制,就应考虑进行下一代测序,同时考虑到现有技术的局限性。迄今为止,还没有药物治疗方法可以改变疾病的进程,但对症治疗以及康复和矫形方面的考虑都很重要。后者应及早开始,以识别并改善患者的功能障碍,包括个体化的锻炼指南、矫形器适应以及对肌腱转位等保守手术的评估。CMT 患者的随访完全是临床随访,在常规临床实践中无需进行辅助检查。
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引用次数: 0
Diagnosis and treatment of disorders of intracranial pressure: consensus statement of the Spanish Society of Neurology's Headache Study Group. 颅内压紊乱的诊断与治疗:西班牙神经病学学会头痛研究小组共识声明。
Pub Date : 2024-02-29 DOI: 10.1016/j.nrleng.2024.02.009
J García-Ull, N González-García, M Torres-Ferrús, D García-Azorín, I F J Molina-Martínez, I Beltrán-Blasco, S Santos-Lasaosa, G Latorre, A B Gago-Veiga, J M Láinez, J Porta-Etessam, C Nieves-Castellanos, A Mínguez-Olaondo, A López-Bravo, S Quintas, N Morollón, S Díaz-Insa, R Belvís, P Irimia

Primary intracranial pressure disorders include idiopathic intracranial hypertension and spontaneous intracranial hypotension. Remarkable advances have been made in the diagnosis and treatment of these 2entities in recent years. Therefore, the Spanish Society of Neurology's Headache Study Group (GECSEN) deemed it necessary to prepare this consensus statement, including diagnostic and therapeutic algorithms to facilitate and improve the management of these disorders in clinical practice. This document was created by a committee of experts belonging to GECSEN, and is based on a systematic review of the literature, incorporating the experience of the participants, and establishes practical recommendations with levels of evidence and grades of recommendation.

原发性颅内压疾病包括特发性颅内高压和自发性颅内低血压。近年来,这两种疾病在诊断和治疗技术方面取得了显著进步。因此,西班牙神经病学学会头痛研究小组(GECSEN)认为有必要编写这份共识文件,其中包括诊断和治疗算法,以促进和改善临床实践中的管理。本文件由 GECSEN 专家委员会在系统回顾文献的基础上编写而成,其中纳入了参与者的经验,并制定了具有证据级别和推荐等级的实用建议。
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引用次数: 0
期刊
Neurologia
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