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Joubert syndrome with the decaying molar tooth sign: report of 2 cases. 伴有臼齿龋齿征的朱伯综合征:2 例病例报告。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-06 DOI: 10.1007/s13760-024-02635-5
Felipe Scortegagna, Diogo Goulart Corrêa, Felipe Torres Pacheco, Renato Hoffmann Nunes, Antônio José da Rocha
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引用次数: 0
Clinical and sociodemographic predictors of depressive symptoms in epilepsy patients in a single tertiary epilepsy center. 一家三级癫痫中心的癫痫患者抑郁症状的临床和社会人口学预测因素。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-05 DOI: 10.1007/s13760-024-02632-8
Dragica Hajder, Slobodan Sekulić, Vojislava Bugarski Ignjatović, Sanela Popović, Nemanja Popović, Željka Nikolašević, Ksenija Gebauer Bukurov

Purpose: The purpose of this cross-sectional study was to determine the frequency of depressive symptoms in patients with epilepsy (PWE) in a tertiary epilepsy center and to analyse possible predictors of depression in several domains, including clinical characteristics of epilepsy and sociodemographic factors.

Methods: PWE patients who visited our epilepsy clinic during the 6th month in 2020 and 2021 were enrolled in our study. To collect the data, structured scales were created for the clinical characteristics of the disease and for the sociodemographic data. All participants completed the Back Depression Inventory II (BDI-II). Univariate analysis and binary logistic regression were also conducted to identify the factors associated with depressive symptoms in PWE.

Results: A total of 131 PWE were recruited for this study. It was determined that depressive symptoms were present in 51.1% of PWE. Of these, 49.25% manifested severe depressive symptoms. Approximately 18% of PWE use antidepressant medications, which is significantly less than that of PWE who are currently depressed. Univariate regression analysis revealed that female sex (p = 0.013), severe seizure frequency in the past year (p = 0.001), the use of the antiseizure medication polytherapy (p = 0.018), the presence of side effects of antiseizure medications (p = 0.001), a history of febrile seizures (p = 0.015), focal impaired awareness seizures (p = 0,051), and a combination of focal aware seizures with focal impaired awareness seizures combined with bilateral tonic‒clonic seizures (p = 0,006) may be associated with depressive symptoms in PWE patients. Binary logistic regression analysis demonstrated that side effects of antiseizure medications (OR = 3.01; 95% CI = 1.09-8.32), history of febrile seizures (OR = 3.75; 95% CI = 1.07-13.11), female sex (OR = 2.16; 95% CI = 0.984-4.73), and combination of focal aware seizures to focal impaired awareness seizures to bilateral tonic‒clonic seizures (OR = 7.32; 95% CI = 0.830-64.59) were unique, independent predictors of depressive symptoms in patients with epilepsy.

Conclusion: Depressive symptoms in PWE are frequent, severe, undiagnosed, and mostly untreated. The side effects of antiseizure medications, history of febrile seizures, female sex, and combination of focal awareness seizures and focal impaired awareness seizures combined with bilateral tonic‒clonic seizures are unique, independent predictors of depressive symptoms in PWE.

目的:本横断面研究旨在确定一家三级癫痫中心的癫痫患者(PWE)出现抑郁症状的频率,并从多个方面分析抑郁症的可能预测因素,包括癫痫的临床特征和社会人口因素:研究对象为 2020 年和 2021 年第 6 个月到我院癫痫门诊就诊的 PWE 患者。为了收集数据,我们针对疾病的临床特征和社会人口学数据编制了结构化量表。所有参与者都填写了 "背部抑郁量表 II"(BDI-II)。研究还进行了单变量分析和二元逻辑回归,以确定与残疾人抑郁症状相关的因素:本研究共招募了 131 名残疾人。研究发现,51.1%的残疾人有抑郁症状。其中,49.25%的人表现出严重的抑郁症状。约 18% 的残疾人使用抗抑郁药物,这一比例明显低于目前患有抑郁症的残疾人。单变量回归分析显示,女性性别(p = 0.013)、过去一年癫痫严重发作频率(p = 0.001)、使用抗癫痫药物多联疗法(p = 0.018)、存在抗癫痫药物副作用(p = 0.001)、发热性发作史(p = 0.015)、局灶性意识障碍发作(p = 0.051)、局灶性意识障碍发作合并双侧强直-阵挛发作(p = 0.006)可能与 PWE 患者的抑郁症状有关。二元逻辑回归分析表明,抗癫痫药物的副作用(OR = 3.01;95% CI = 1.09-8.32)、发热性癫痫发作史(OR = 3.75;95% CI = 1.07-13.11)、女性性别(OR = 2.16;95% CI = 0.984-4.73)、局灶性意识发作和局灶性意识障碍发作合并双侧强直阵挛发作(P = 0.006)可能与 PWE 患者的抑郁症状有关。73)、局灶性意识发作至局灶性意识障碍发作至双侧强直阵挛发作的组合(OR = 7.32; 95% CI = 0.830-64.59)是癫痫患者抑郁症状的独特、独立的预测因素:结论:PWE 患者的抑郁症状频繁出现、严重、未被诊断且大多未得到治疗。抗癫痫药物的副作用、发热性癫痫发作史、女性性别、局灶性意识发作和局灶性意识障碍发作合并双侧强直阵挛发作是预测PWE抑郁症状的独特而独立的因素。
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引用次数: 0
Retraction Note: Yap-Hippo pathway regulates cerebral hypoxia-reoxygenation injury in neuroblastoma N2a cells via inhibiting ROCK1/F-actin/mitochondrial fission pathways. 撤稿说明:Yap-Hippo通路通过抑制ROCK1/F-肌动蛋白/半胱质裂变通路调节神经母细胞瘤N2a细胞的脑缺氧-缺氧损伤。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-03 DOI: 10.1007/s13760-024-02633-7
Chizi Geng, Jianchao Wei, Chengsi Wu
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引用次数: 0
Correction to "If you cannot measure it, you cannot improve it". Outcome measures in Duchenne muscular dystrophy: current and future perspectives. 对 "如果无法测量,就无法改进 "的更正。杜兴氏肌肉萎缩症的结果测量:当前和未来展望。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-02 DOI: 10.1007/s13760-024-02619-5
Silvia Benemei, Francesca Gatto, Luca Boni, Marika Pane
{"title":"Correction to \"If you cannot measure it, you cannot improve it\". Outcome measures in Duchenne muscular dystrophy: current and future perspectives.","authors":"Silvia Benemei, Francesca Gatto, Luca Boni, Marika Pane","doi":"10.1007/s13760-024-02619-5","DOIUrl":"https://doi.org/10.1007/s13760-024-02619-5","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142118680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Tyrosine hydroxylase deficiency in a child initially misdiagnosed as cerebral palsy combined with epilepsy. 一名最初被误诊为脑瘫合并癫痫的儿童患有酪氨酸羟化酶缺乏症。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-02 DOI: 10.1007/s13760-024-02631-9
Xiaoli Qi, Jing Zhang, Zhiqiang Sheng
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引用次数: 0
Autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS)-first with tongue wasting, peripheral nerve thickening and a novel SACS gene mutation. 常染色体隐性遗传的沙勒沃瓦-萨古奈痉挛性共济失调症(ARSACS)--首次出现舌头萎缩、外周神经增粗和新型 SACS 基因突变。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-29 DOI: 10.1007/s13760-024-02627-5
Ramkumar Sugumaran, Ragavendar Bhuvaneswaran, Sunil K Narayan
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引用次数: 0
When the ophthalmic artery saves the brain: about a rare case of brain blood supply. 眼动脉拯救大脑:一例罕见的脑供血病例。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-29 DOI: 10.1007/s13760-024-02621-x
Ludovic Vandermeer, Philippe Desfontaines, Denis Brisbois, Olivier Cornet, François Delvoye
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引用次数: 0
Correction to: Pediatric case of a particularly large clear cell meningioma - a case. 更正:小儿特大透明细胞脑膜瘤--一例。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-29 DOI: 10.1007/s13760-024-02625-7
Markéta Češpivová, Martin Lammens, Dana Dumitriu, Herbert Rooijakkers, Lina Daoud
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引用次数: 0
Beyond the smile: a systematic review of diagnostic tools for peripheral facial paralysis. 超越微笑:周围性面瘫诊断工具的系统回顾。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-29 DOI: 10.1007/s13760-024-02630-w
Roberto Tedeschi, Danilo Donati, Federica Giorgi

Background: Effective rehabilitation of peripheral facial paralysis (PFP) requires reliable assessment tools. This systematic review aimed to identify and validate instruments used in PFP rehabilitation, categorizing them according to the ICF framework.

Methods: A comprehensive search was conducted across PubMed, Cinahl, Web of Science, and Scopus up to April 2024. Observational analytical studies and one non-randomized controlled trial that validated tools for assessing PFP were included.

Results: Thirty-three studies were included, covering twenty different tools. Seventeen tools were related to the "Structure and Function" domain, while three addressed "Activity and Participation." The Sunnybrook and House-Brackmann scales were the most extensively studied. The Sunnybrook scale exhibited excellent intra- and inter-rater reproducibility and internal validity, making it suitable for clinical use. The House-Brackmann scale was user-friendly but had limitations in reproducibility and sensitivity to subtle differences, which newer versions like the FNGS 2.0 aimed to address. The FAME scale showed promise by reducing subjective scoring. Computerized tools, such as eFACE and A-FPG, and instruments for lip asymmetry and ocular involvement demonstrated potential but require further validation. The Facial Disability Index and the FaCE Scale were validated for assessing disability and participation restrictions.

Conclusion: This review identified several validated tools for PFP assessment, with the Sunnybrook and House-Brackmann scales being the most reliable. While emerging tools and computerized programs show promise, they need further validation for routine clinical use. Integrating validated tools into clinical practice is essential for comprehensive assessment and effective rehabilitation of PFP.

背景:周围性面瘫(PFP)的有效康复需要可靠的评估工具。本系统综述旨在确定和验证用于周围性面瘫康复的工具,并根据 ICF 框架对其进行分类:方法:对截至 2024 年 4 月的 PubMed、Cinahl、Web of Science 和 Scopus 进行了全面检索。结果:共收录了 33 项研究,涵盖的领域包括:康复治疗、康复护理、康复训练和康复管理:结果:共纳入 33 项研究,涵盖 20 种不同的工具。其中 17 种工具涉及 "结构与功能 "领域,3 种涉及 "活动与参与 "领域。对桑尼布鲁克量表和 House-Brackmann 量表的研究最为广泛。桑尼布鲁克量表在评分者内部和评分者之间具有良好的再现性和内部效度,因此适合临床使用。豪斯-布拉克曼量表用户界面友好,但在重现性和对细微差别的敏感性方面存在局限性,FNGS 2.0 等新版本旨在解决这一问题。FAME 量表减少了主观评分,因此前景看好。计算机化工具,如 eFACE 和 A-FPG,以及唇部不对称和眼部受累工具都显示出了潜力,但还需要进一步验证。面部残疾指数和FaCE量表在评估残疾和参与限制方面得到了验证:本次研究发现了几种经过验证的 PFP 评估工具,其中桑尼布鲁克量表和 House-Brackmann 量表最为可靠。虽然新出现的工具和计算机化程序显示出了前景,但它们在常规临床应用中还需要进一步验证。将经过验证的工具融入临床实践对于全面评估和有效康复 PFP 至关重要。
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引用次数: 0
Central nervous system complications during treatment in childhood acute leukemia. 儿童急性白血病治疗期间的中枢神经系统并发症。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-27 DOI: 10.1007/s13760-024-02602-0
Arzu Ekici, Bilgen Ayan, Elif Güler Kazancı, Zeynep Beyza Kuşku, Cengiz Gökhan Orcan, Cengiz Havalı, Sevil Dorum, Taha Metin, Betül Biner Orhaner

Objective: Central nervous system (CNS) complications can be seen in patients with leukemia, depending on the disease itself and the chemotherapeutic agents used. This study focused on CNS complications during treatment in children with acute leukemia in a single pediatric institution.

Methods: CNS complications were evaluated retrospectively in 115 patients with ALL and AML. Patients with CNS leukemia infiltration at the time of diagnosis or during a neurological event, late-onset encephalopathy, peripheral neuropathy, or a previous history of neurological abnormalities were excluded from the study.

Results: A total of 115 children's clinical records with acute leukemia over a four-year period were reviewed. Acute CNS complications developed in 23.1% of acute myeloid leukemia (AML) patients and in 13.5% of acute lymphoblastic leukemia (ALL) patients. CNS complications developed most frequently during the induction phase of the treatment (66.7%). Seizures were the most common symptom (9 patients, 50%), followed by hemiparesis (4 patients, 22.2%) and headache (4 patients, 22.2%). Six patients (33.3%) had chemotherapy-induced toxic leukoencephalopathy, two (11.1%) had Wernicke's encephalopathy, and one patient (5.6%) each had sinus vein thrombosis, posterior reversible encephalopathy syndrome, and CNS infection. Sequelae occurred in three patients (16.7%), and only one patient (5.6%) died due to a CNS complication.

Conclusion: A wide variety of symptoms can be observed in childhood leukemia, depending on the disease itself, the chemotherapeutic agents used and a lot of other conditions such as nutritional problems. Our research shows that several CNS complications might manifest with similar symptoms; differentiated diagnosis between the underlying etiological reasons can be made by neuroimaging.

目的:白血病患者可能会出现中枢神经系统(CNS)并发症,这取决于疾病本身和所使用的化疗药物。本研究的重点是一家儿科医疗机构的急性白血病患儿在治疗过程中出现的中枢神经系统并发症:方法:对115名ALL和AML患者的中枢神经系统并发症进行回顾性评估。研究排除了在诊断时或神经系统事件期间出现中枢神经系统白血病浸润、晚发脑病、周围神经病变或既往有神经系统异常病史的患者:共查阅了115名急性白血病患儿四年的临床病历。23.1%的急性髓性白血病(AML)患者和13.5%的急性淋巴细胞白血病(ALL)患者出现急性中枢神经系统并发症。中枢神经系统并发症最常见于诱导治疗阶段(66.7%)。癫痫发作是最常见的症状(9 名患者,50%),其次是偏瘫(4 名患者,22.2%)和头痛(4 名患者,22.2%)。6名患者(33.3%)出现了化疗诱发的中毒性白质脑病,2名患者(11.1%)出现了韦尼克脑病,还有1名患者(5.6%)分别出现了窦静脉血栓、后可逆性脑病综合征和中枢神经系统感染。三名患者(16.7%)出现后遗症,只有一名患者(5.6%)因中枢神经系统并发症死亡:结论:儿童白血病的症状多种多样,取决于疾病本身、所使用的化疗药物以及营养问题等许多其他情况。我们的研究表明,多种中枢神经系统并发症可能表现出相似的症状;通过神经影像学检查可对潜在的病因做出鉴别诊断。
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Acta neurologica Belgica
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