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A variant in GRN of Spanish origin presenting with heterogeneous phenotypes 源于西班牙的 GRN 变异基因表现出异质性表型。
Pub Date : 2025-01-01 DOI: 10.1016/j.nrleng.2022.10.001
M. Menéndez-González , A. García-Martínez , I. Fernández-Vega , A. Pitiot , V. Álvarez

Introduction

The variant c.1414-1G>T in the GRN gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent.

Methods

We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings.

Results

Phenotypes were strikingly different, including cases presenting with behavioral variant frontotemporal dementia, semantic variant primary progressive aphasia, rapidly progressive motor neuron disease (pathologically documented), and tremor-dominant parkinsonism. Retinal degeneration has been found in homozygous carriers only. Ex vivo splicing assays confirmed that the mutation c.1414-1G>T affects the splicing of the exon, causing a loss of 20 amino acids in exon 11.

Conclusions

We conclude that variant c.1414-1G>T of the GRN gene is pathogenic, can lead to a variety of clinical presentations and to gene dosage effect, and probably has a Spanish founder effect.
导言:据报道,GRN基因中的c.1414-1G>T变异可能是美洲大陆西班牙裔患者的致病基因:我们报告了 5 个携带该变异基因的西班牙裔家庭,包括临床、神经影像学和实验室结果:结果:表型差异显著,包括行为变异型额颞叶痴呆、语义变异型原发性进行性失语、快速进展性运动神经元病(病理记录)和震颤为主的帕金森病。仅在同基因携带者中发现了视网膜变性。体内外剪接试验证实,c.1414-1G>T 突变影响了外显子的剪接,导致第 11 号外显子丢失 20 个氨基酸:我们得出结论:GRN 基因变异体 c.1414-1G>T 具有致病性,可导致多种临床表现和基因剂量效应,并可能具有西班牙创始人效应。
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引用次数: 0
Barcelona scale for buccophonatory apraxia: Quantitative assessment tool 巴塞罗那咀嚼发音障碍量表:定量评估工具。
Pub Date : 2025-01-01 DOI: 10.1016/j.nrleng.2022.09.006
N. Montagut , S. Borrego-Écija , J. Herrero , A. Lladó , M. Balasa , E. Muñoz , F. Valldeoriola , R. Sánchez-Valle

Introduction

Currently there is no tool to quantify buccophonatory apraxia to stratify, compare and monitor patients longitudinally in an objective manner. Our aim in this study is to create a quantitative scale for buccophonatory apraxia and evaluate it in patients with the non-fluent/grammatical variant of primary progressive aphasia (nfvPPA) and other neurodegenerative diseases that occur with speech and/or language problems.

Methods

The scale was designed based on useful elements in the assessment of buccophonatory apraxia and the total was quantified in seconds. The scale was administered to 64 participants with diagnoses of: nfvPPA, semantic variant of primary progressive aphasia (svPPA), logopenic variant of primary progressive aphasia (lvPPA), Huntington’s disease, Parkinson’s disease, as well as a group of healthy controls.

Results

Patients showed a significantly higher score compared to controls. The nfvPPA group had the highest mean score on the scale (429 seconds ± 278). The scale was useful to differentiate vnfPPA from svPPA and Parkinson’s disease (area under curve [AUC] of 0.956 and 0.989, respectively), but less to differentiate it from Huntington’s disease (AUC = 0.67) and lvPPA. There was a statistically significant relationship between total score and disease severity in nfvPPA (P < .029).

Conclusions

The Barcelona scale for buccophonatory apraxia could be useful to quantitatively evaluate buccophonatory apraxia in different neurodegenerative diseases, and compare patients, especially in nfvPPA.
简介:目前,还没有一种量化口语障碍的工具,可以客观地对患者进行分层、比较和纵向监测。本研究的目的是创建一个发音障碍量化量表,并对原发性进行性失语症非流利/语法变异型(nfvPPA)和其他伴有言语和/或语言问题的神经退行性疾病患者进行评估:该量表是根据评估颊发音障碍的有用要素设计的,总分以秒为单位进行量化。该量表适用于64名被诊断为以下疾病的患者:nfvPPA、原发性进行性失语的语义变异型(svPPA)、原发性进行性失语的对数开放变异型(lvPPA)、亨廷顿氏病、帕金森氏病以及一组健康对照组:结果:与对照组相比,患者的得分明显更高。nfvPPA 组的量表平均得分最高(429 秒 ± 278)。该量表有助于区分vnfPPA与svPPA和帕金森病(曲线下面积[AUC]分别为0.956和0.989),但较难区分vnfPPA与亨廷顿病(AUC = 0.67)和lvPPA。在nfvPPA中,总分与疾病严重程度之间存在统计学意义上的显著关系(P < .029):巴塞罗那发音障碍量表可用于定量评估不同神经退行性疾病的发音障碍,并对患者进行比较,尤其是对nfvPPA患者。
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引用次数: 0
Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome
Pub Date : 2025-01-01 DOI: 10.1016/j.nrleng.2025.01.001
L. Silva-Hernández , B. Cabal-Paz , J. Jiménez-Almonacid , E. González-Vioque , J. Bohm
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引用次数: 0
The prevalence of cancer in patients with multiple sclerosis (MS) who received rituximab: a systematic review and meta-analysis 接受利妥昔单抗治疗的多发性硬化症(MS)患者的癌症发病率:系统综述和荟萃分析。
Pub Date : 2025-01-01 DOI: 10.1016/j.nrleng.2022.07.004
O. Mirmosayyeb , V. Shaygannejad , N. Ebrahimi , H. Ghoshouni , M. Ghajarzadeh

Objective

To estimate the pooled prevalence of cancer in patients with multiple sclerosis (MS) cases who were under treatment with rituximab.

Methods

We searched PubMed, Scopus, EMBASE, Web of Science, and google scholar along with gray literature up to April 2021.
The search strategy included the MeSH and text words as ((“CD20 Antibody” AND Rituximab) OR “Rituximab CD20 Antibody” OR Mabthera OR “IDEC-C2B8 Antibody” OR “IDEC C2B8 Antibody” OR IDEC-C2B8 OR “IDEC C2B8” OR GP2013 OR Rituxan OR rituximab) AND ((Sclerosis AND multiple) OR (sclerosis AND disseminated) OR "disseminated sclerosis" OR "multiple sclerosis" OR "acute fulminating").

Results

The literature search revealed 3577 articles, after deleting duplicates 2066 remained. For the meta-analysis, 22 studies were included. Totally, 15599 patients were enrolled while 133 cancers were detected.
The pooled prevalence of cancer in MS patients under treatment with rituximab is 1in 100,000 (I2 = 99.9%, p < 0.001).

Conclusion

The results of this systematic review and meta-analysis show that the pooled prevalence of cancer in MS patients who received rituximab is 1 in 100,000 cases.
目的估算接受利妥昔单抗治疗的多发性硬化症(MS)患者的癌症发病率:我们检索了 PubMed、Scopus、EMBASE、Web of Science 和 google scholar 以及截至 2021 年 4 月的灰色文献。检索策略包括 MeSH 和文本词(("CD20 抗体 "和利妥昔单抗)或 "利妥昔单抗 CD20 抗体 "或 Mabthera 或 "IDEC-C2B8 抗体 "或 "IDEC C2B8 抗体 "或 IDEC-C2B8 "或 "IDEC C2B8 "或 GP2013 或利妥昔单抗或利妥昔单抗)和((硬化症和多发性)或(硬化症和播散性)或 "播散性硬化症 "或 "多发性硬化症 "或 "急性发热")。结果:文献检索共发现 3577 篇文章,删除重复文章后剩余 2066 篇。荟萃分析共纳入 22 项研究。共纳入 15599 名患者,发现 133 例癌症。在接受利妥昔单抗治疗的多发性硬化症患者中,癌症的总发病率为十万分之一(I2 = 99.9%,P 结论:癌症的总发病率为十万分之一:这项系统回顾和荟萃分析的结果显示,接受利妥昔单抗治疗的多发性硬化症患者的癌症发病率为十万分之一。
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引用次数: 0
Thrombosis with thrombocytopenia syndrome following adenovirus vector-based vaccines to prevent COVID-19: Epidemiology and clinical presentation in Spain 接种基于腺病毒载体的疫苗以预防 COVID-19 后出现血栓形成伴血小板减少综合征:西班牙的流行病学和临床表现。
Pub Date : 2024-11-01 DOI: 10.1016/j.nrleng.2024.10.001
D. García-Azorín , E. Lázaro , D. Ezpeleta , R. Lecumberri , R. de la Cámara , M. Castellanos , C. Iñiguez Martínez , L. Quiroga-González , G. Elizondo Rivas , A. Sancho-López , P. Rayón Iglesias , E. Segovia , C. Mejías , D. Montero Corominas

Background

We describe the epidemiological and clinical characteristics of thrombosis with thrombocytopenia syndrome (TTS) cases reported in Spain.

Methods

We included all cases of venous or arterial thrombosis with thrombocytopenia following administration of adenoviral vector vaccines (AstraZeneca or Janssen) against COVID-19 disease between 1 February and 26 September 2021. We describe the crude rate and the standardised morbidity ratio. We assessed the predictors of mortality.

Results

Sixty-one cases were reported and 45 fulfilled eligibility criteria; 82% of patients were women. The crude TTS rate was 4 cases/1 000 000 doses, and 14-15 cases/1 000 000 doses among patients aged 30-49 years. The number of observed cases of cerebral venous thrombosis was 6-18 times higher than that expected in patients younger than 49 years. Symptoms started a median (quartiles 1 and 3 [Q1-Q3]) of 10 (7-14) days after vaccination. Eighty percent (95% confidence interval [CI]: 65%-90%) had thrombocytopenia at the time of the emergency department visit, and 65% (49%-78%) had D-dimer levels > 2000 ng/mL. Patients had thromboses affecting multiple locations in 36% of cases and fatal outcomea in 24%. Platelet nadir < 50 000/μL (odds ratio [OR]: 7.4; 95% CI: 1.2-47.5) and intracranial hemorrhage (OR: 7.9; 95% CI: 1.3-47.0) were associated with fatal outcomes.

Conclusion

TTS must be suspected in patients with symptoms 10 days after vaccination and thrombocytopenia and/or elevated D-dimer levels.
背景:我们描述了西班牙报告的血栓伴血小板减少综合征(TTS)病例的流行病学和临床特征:我们描述了西班牙报告的血栓伴血小板减少综合征(TTS)病例的流行病学和临床特征:我们纳入了 2021 年 2 月 1 日至 9 月 26 日期间接种腺病毒载体疫苗(阿斯利康或杨森)以预防 COVID-19 疾病的所有伴血小板减少的静脉或动脉血栓形成病例。我们描述了粗死亡率和标准化发病率。我们评估了死亡率的预测因素:共报告了 61 例病例,其中 45 例符合资格标准,82% 为女性。粗TTS率为4/1,000,000剂量,30-49岁为14-15/1,000,000剂量。在 49 岁以下的患者中,观察到的脑静脉血栓病例数比预期高出 6-18 例。症状开始于接种疫苗后 10 天(四分位距(IQR):7-14 天)。80%(95% 置信区间 (CI):65-90%)的患者在急诊就诊时血小板减少,65%(95% 置信区间 (CI):49-78%)的患者 D-二聚体大于 2000 纳克/毫升。36%的患者有多处血栓形成,24%的患者有致命后果。血小板最低点接种疫苗 10 天后出现症状、血小板减少和/或 D-二聚体增加的患者必须怀疑 TTS。
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引用次数: 0
Rare neurological and neuropsychiatric manifestations of scrub typhus: a case series of 10 cases 恙虫病罕见的神经和神经精神表现:10 例病例系列。
Pub Date : 2024-11-01 DOI: 10.1016/j.nrleng.2022.07.001
Ritwik Ghosh , Arpan Mandal , Moisés León-Ruiz , Dipayan Roy , Shambaditya Das , Souvik Dubey , Julián Benito-León

Introduction

Scrub typhus is a potentially life-threatening but curable disease that can produce multi-organ failure. Neurological manifestations in scrub typhus have gained attention recently, where the entire neural axis except the myoneural junction can be involved. Although the pathogenesis of neurological involvement has not been established, immune-mediated mechanisms are suspected. This article reports the clinicopathological features of scrub typhus cases presenting several rare neurological and neuropsychiatric manifestations.

Methods

Three hundred fifty-four serologically confirmed scrub typhus cases were admitted to the Department of General Medicine of Burdwan Medical College and Hospital (West Bengal, India) between May 2018 and May 2022. There were 50 patients who had predominantly neurological manifestations. Of these 50 cases, ten patients presented with extremely rare neurological manifestations.

Results

We report 10 cases of scrub typhus (four men and six women) who presented with complex neurological pictures (posterior reversible encephalopathy syndrome, Opalski syndrome, parkinsonism, cerebellitis, isolated opsoclonus, acute transverse myelitis, myositis, polyradiculoneuropathy with cranial neuropathy, acute transient behavioral changes, and fibromyalgia). Immune-mediated mechanisms might have mediated the pathogenesis of most cases following scrub typhus infection.

Conclusion

From a clinicopathological point of view, each case was unique in its presentation and treatment response. In any acute onset neurological disorders associated with febrile illness in the tropics or subtropics, scrub typhus infection should be included in the differential diagnosis, despite the absence of eschar and unremarkable neuroimaging findings. This otherwise curable disease may result in multi-organ dysfunction syndrome and death if the diagnosis is delayed.
导言:恙虫病是一种可能危及生命但可治愈的疾病,可导致多器官功能衰竭。最近,恙虫病的神经系统表现引起了人们的关注,除了肌神经交界处外,整个神经轴都可能受累。虽然神经系统受累的发病机制尚未确定,但人们怀疑是免疫介导的机制所致。本文报告了出现几种罕见神经和神经精神表现的恙虫病病例的临床病理特征:2018年5月至2022年5月期间,Burdwan医学院和医院(印度西孟加拉邦)全科医学系收治了354例经血清学确诊的恙虫病病例。其中 50 例患者主要有神经系统表现。在这50例患者中,有10例患者出现了极其罕见的神经系统表现:我们报告了 10 例恙虫病病例(4 男 6 女),他们表现出复杂的神经系统症状(后可逆性脑病综合征、Opalski 综合征、帕金森病、小脑炎、孤立性肌阵挛、急性横贯性脊髓炎、肌炎、伴有颅神经病变的多发性神经元病变、急性一过性行为改变和纤维肌痛)。免疫介导机制可能是大多数恙虫病感染病例的发病机制:从临床病理学的角度来看,每个病例的表现和治疗反应都是独一无二的。在热带或亚热带地区,任何与发热性疾病相关的急性神经系统疾病都应将恙虫病感染列入鉴别诊断,尽管该病没有炭疽,神经影像学检查结果也不明显。如果延误诊断,这种原本可以治愈的疾病可能会导致多器官功能障碍综合征和死亡。
{"title":"Rare neurological and neuropsychiatric manifestations of scrub typhus: a case series of 10 cases","authors":"Ritwik Ghosh ,&nbsp;Arpan Mandal ,&nbsp;Moisés León-Ruiz ,&nbsp;Dipayan Roy ,&nbsp;Shambaditya Das ,&nbsp;Souvik Dubey ,&nbsp;Julián Benito-León","doi":"10.1016/j.nrleng.2022.07.001","DOIUrl":"10.1016/j.nrleng.2022.07.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Scrub typhus is a potentially life-threatening but curable disease that can produce multi-organ failure. Neurological manifestations in scrub typhus have gained attention recently, where the entire neural axis except the myoneural junction can be involved. Although the pathogenesis of neurological involvement has not been established, immune-mediated mechanisms are suspected. This article reports the clinicopathological features of scrub typhus cases presenting several rare neurological and neuropsychiatric manifestations.</div></div><div><h3>Methods</h3><div>Three hundred fifty-four serologically confirmed scrub typhus cases were admitted to the Department of General Medicine of Burdwan Medical College and Hospital (West Bengal, India) between May 2018 and May 2022. There were 50 patients who had predominantly neurological manifestations. Of these 50 cases, ten patients presented with extremely rare neurological manifestations.</div></div><div><h3>Results</h3><div>We report 10 cases of scrub typhus (four men and six women) who presented with complex neurological pictures (posterior reversible encephalopathy syndrome, Opalski syndrome, parkinsonism, cerebellitis, isolated opsoclonus, acute transverse myelitis, myositis, polyradiculoneuropathy with cranial neuropathy, acute transient behavioral changes, and fibromyalgia). Immune-mediated mechanisms might have mediated the pathogenesis of most cases following scrub typhus infection.</div></div><div><h3>Conclusion</h3><div>From a clinicopathological point of view, each case was unique in its presentation and treatment response. In any acute onset neurological disorders associated with febrile illness in the tropics or subtropics, scrub typhus infection should be included in the differential diagnosis, despite the absence of eschar and unremarkable neuroimaging findings. This otherwise curable disease may result in multi-organ dysfunction syndrome and death if the diagnosis is delayed.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 9","pages":"Pages 766-780"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40565842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The CORCOBIA study: Cut-off points of Alzheimer’s disease CSF biomarkers in a clinical cohort CORCOBIA 研究:临床队列中阿尔茨海默病 CSF 生物标志物的临界点。
Pub Date : 2024-11-01 DOI: 10.1016/j.nrleng.2022.05.002
A. Puig-Pijoan , G. García-Escobar , A. Fernández-Lebrero , R.M. Manero-Borràs , G. Sánchez-Benavides , I. Navalpotro-Gómez , D. Cascales Lahoz , M. Suárez-Calvet , O. Grau-Rivera , A. Boltes Alandí , M.C. Pont-Sunyer , J. Ortiz-Gil , S. Carrillo-Molina , D. López-Villegas , M.T. Abellán-Vidal , M.I. Martínez-Casamitjana , J.J. Hernández-Sánchez , J. Peña-Casanova , J. Roquer , A. Padrós Fluvià , V. Puente-Périz

Introduction

The analysis of the core biomarkers of Alzheimer’s Disease (AD) in the cerebrospinal fluid (CSF) is recommended in the clinical units where it is available. Because of the absence of universal validated values, the determination of specific cut-off points for each center and its population is recommended. The main objective of the CORCOBIA study was to determine the cut-off points of core AD CSF biomarkers for several centers (Parc de Salut Mar, Barcelona and Hospital General de Granollers), which work with the same reference laboratory (Laboratori de Referència de Catalunya).

Methods

Prospective study including cognitively unimpaired individuals (CU, n = 42), subjects with amnestic mild cognitive impairment (aMCI, n = 35) and patients with dementia due to Alzheimer’s Disease (AD, n = 48), in whom clinical and neuropsychological assessment, neuroimaging, APOE genotyping and lumbar puncture to analyse amyloid beta peptides (Aβ42, Aβ40), total tau (tTau) and phosphorylated Tau (pTau181) using the Lumipulse G600II (Fujirebio) was performed. The values of sensitivity (SE), specificity (SP), predictive values and area under the curve (AUC) were calculated, determining the cut-off point according to the Youden index by comparing the CU and AD groups.

Results

The resulting cut-offs and their AUC were the following: Aβ42 750 pg/mL (AUC 0.809); Aβ42/Aβ40 0.062 (AUC 0.78); pTau181 69.85 pg/mL (AUC 0.81); tTau 522.0 pg/mL (AUC 0.79); Aβ42/tTau 1.76 (AUC 0.86); Aβ42/pTau181 10.25 (AUC 0.86).

Conclusions

The determination of cut-off points of core AD CSF biomarkers for the participating centers allows a better diagnostic accuracy. The ratio CSF Aβ42/pTau181 shows the highest AUC and better balance between sensitivity and specificity.
简介建议有条件的临床单位对脑脊液(CSF)中的阿尔茨海默病(AD)核心生物标志物进行分析。由于缺乏通用的有效值,建议针对每个中心及其人群确定特定的临界点。CORCOBIA研究的主要目的是确定与同一参考实验室(Laboratori de Referència de Catalunya)合作的几个中心(巴塞罗那Parc de Salut Mar和格拉诺列尔总医院)的AD CSF核心生物标志物的临界点:前瞻性研究,包括认知功能未受损者(CU,n = 42)、有记忆障碍的轻度认知功能受损者(aMCI,n = 35)和阿尔兹海默症痴呆患者(AD,n = 48)、对这些患者进行了临床和神经心理学评估、神经影像学检查、APOE基因分型以及腰椎穿刺,使用Lumipulse G600II(Fujirebio)分析淀粉样β肽(Aβ42、Aβ40)、总tau(tTau)和磷酸化Tau(pTau181)。计算灵敏度(SE)、特异性(SP)、预测值和曲线下面积(AUC),通过比较CU组和AD组,根据Youden指数确定临界点:结果:得出的临界点及其AUC如下:Aβ42 750 pg/mL(AUC 0.809);Aβ42/Aβ40 0.062(AUC 0.78);pTau181 69.85 pg/mL(AUC 0.81);tTau 522.0 pg/mL(AUC 0.79);Aβ42/tTau 1.76(AUC 0.86);Aβ42/pTau181 10.25(AUC 0.86):为参与中心确定AD CSF核心生物标志物的临界点可提高诊断准确性。CSF Aβ42/pTau181的AUC最高,灵敏度和特异性之间的平衡较好。
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引用次数: 0
Fear of Relapse Scale: Spanish version and psychometric characteristics in a sample of patients with Relapsing-Remitting multiple sclerosis 复发恐惧量表:西班牙文版本和复发-缓解型多发性硬化症患者样本的心理测量特征。
Pub Date : 2024-11-01 DOI: 10.1016/j.nrleng.2022.06.003
Y. Broche-Pérez , R.M. Jiménez-Morales , L.O. Monasterio-Ramos , L.A. Vázquez-Gómez , Z. Fernández-Fleites

Introduction

Relapses are a hallmark of multiple sclerosis, being a characteristic feature of relapsing-remitting multiple sclerosis (RRMS). The occurrence of a relapse constitutes a source of significant discomfort that impacts all domains of daily life of patients with multiple sclerosis (PwMS). In this study we first explored the psychometric properties of the Spanish version of the Fear of Relapse Scale (FoR) in a sample of patients with RRMS. Besides, we explored the relationship between the Fear of Relapse Scale with fatigue and cognitive perceived deficits in our PwMS sample.

Methods

An online cross-sectional survey was conducted on 173 MS patients from 12 Spanish-speaking countries (Argentina, Mexico, Uruguay, Dominican Republic, Spain, Cuba, Colombia, Guatemala, Chile, Paraguay, Peru, and El Salvador). Confirmatory factor analysis (CFA) was performed to assess the factor structure of the scale. Multiple linear regression was used to evaluate the effects of health self-perception, fatigue, and perceived cognitive deficits over fear of relapse.

Results

The three-factor model in the CFA yielded a good model fit (χ2/df = 2.25, P < .001, RMSEA = .078, CFI = .91). McDonalds’ Omega of the FoR (Spanish version) was .91. There was a statistically significant inverse correlation between FoR and health self-perception, and a positive correlation between FoR, fatigue, and perceived cognitive deficits. Finally, level of fatigue was a predictor of fear of relapse.

Conclusions

The Spanish version of the Fear of Relapse Scale is a valid and reliable instrument to explore the experience of fear of relapse in patients with RRMS.
简介复发是多发性硬化症的特征之一,也是复发缓解型多发性硬化症(RRMS)的特征。复发会给多发性硬化症患者(PwMS)带来极大的不适,影响其日常生活的方方面面。在这项研究中,我们首先在 RRMS 患者样本中探讨了西班牙文版复发恐惧量表(FoR)的心理测量特性。此外,我们还探讨了复发恐惧量表与我们的 PwMS 样本中的疲劳和认知感知缺陷之间的关系:我们对来自 12 个西班牙语国家(阿根廷、墨西哥、乌拉圭、多米尼加共和国、西班牙、古巴、哥伦比亚、危地马拉、智利、巴拉圭、秘鲁和萨尔瓦多)的 173 名 MS 患者进行了在线横断面调查。对量表的因子结构进行了确认性因子分析(CFA)。采用多元线性回归评估健康自我感知、疲劳和认知缺陷对复发恐惧的影响:CFA中的三因素模型拟合良好(χ2/df = 2.25,P < .001,RMSEA = .078,CFI = .91)。麦当劳 FoR(西班牙语版)的 Omega 值为 0.91。据统计,FoR 与健康自我认知之间存在明显的反相关关系,而 FoR、疲劳和认知缺陷之间存在正相关关系。最后,疲劳程度是预测复发恐惧的一个因素:结论:西班牙文版的复发恐惧量表是一种有效、可靠的工具,可用于探究 RRMS 患者的复发恐惧体验。
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引用次数: 0
Sporadic fatal insomnia: a rapidly progressive phenotype resembling progressive supranuclear palsy 零星致命性失眠:快速进展的 PSP 样表型。
Pub Date : 2024-11-01 DOI: 10.1016/j.nrleng.2024.02.005
J.C. Romero-Fábrega , R. Lorenzo-López , E. Rivas-Infante , F. Escamilla-Sevilla , M. Rashki , A. Mínguez-Castellanos , A. Carvajal-Hernández
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引用次数: 0
Evaluation of the burden of migraine on the partner’s lifestyle 评估偏头痛对伴侣生活方式的影响。
Pub Date : 2024-11-01 DOI: 10.1016/j.nrleng.2023.06.001
E. Fernández-Bermejo , Á. Planchuelo-Gómez , S. Quintas , A. Gonzalez-Martinez , D. García-Azorín , Á. Sierra-Mencía , Á.L. Guerrero , S. Santos-Lasaosa , M. Pilar Navarro-Pérez , N. González-García , J. Díaz-de-Terán , A.B. Gago-Veiga

Background

Despite the number of research studies regarding the individual burden of migraine, few studies have examined its impact on the patients’ partners. We aim to assess migraine effects on the patients’ partners on sentimental relationship, children relationship, friendship, and work, as well as the caregiver burden, anxiety and/or depression.

Methods

A cross-sectional observational study was conducted through an online survey of partners of patients with migraine followed-up in 5 Headache Units. Questions about the 4 areas of interest and 2 scales (Hospital Anxiety and Depression Scale and Zarit scale) were included. Scores were compared against the population prevalence.

Results

One hundred and fifty-five answers were analysed. Among the patient’s partners 135/155 (87.1%) were men, with a mean age of 45.6 ± 10.1 years. Migraine’s main effects on partners were observed in the sentimental relationship and items concerning children and friendships, with a minor impact at work. Partners showed a moderate burden (12/155 = 7.7% [4.1%–13.1%]), and a higher moderate-severe anxiety rate (23/155 = 14.8% [9.6%–21.4%]), and similar depression rate (5/155 = 3.2% [1.1%–7.3%]) compared to the National Health Survey.

Conclusions

The burden of migraine impacts the partners’ personal relationship, childcare, friendship and work. Moreover, certain migraine partners showed a moderate burden according to Zarit scale and higher anxiety levels than the Spanish population.
背景:尽管关于偏头痛个体负担的研究有很多,但很少有研究调查其对患者伴侣的影响。我们的目的是评估偏头痛对患者伴侣在情感关系、儿童关系、友谊、工作以及照顾者负担、焦虑和/或抑郁方面的影响。方法:通过对5个头痛单位偏头痛患者的伴侣进行在线调查,进行横断面观察性研究。包括关于4个兴趣领域和2个量表(医院焦虑和抑郁量表和Zarit量表)的问题。将得分与人口患病率进行比较。结果:对155份问卷进行了分析。患者伴侣中男性135/155(87.1%),平均年龄45.6±10.1岁。偏头痛对伴侣的主要影响是在情感关系、孩子和友谊方面,对工作的影响较小。与全国健康调查相比,伴侣负担较轻(12/155 = 7.7%[4.1% ~ 13.1%]),中重度焦虑率较高(23/155 = 14.8%[9.6% ~ 21.4%]),抑郁率相似(5/155 = 3.2%[1.1% ~ 7.3%])。结论:偏头痛负担影响伴侣的人际关系、育儿、友谊和工作。此外,根据Zarit量表,某些偏头痛伴侣表现出适度的负担和比西班牙人更高的焦虑水平。
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Neurologia
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