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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
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
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
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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引用次数: 0
Defining the clinical phenomenology of Hemifacial Spasm as the presenting feature of idiopathic intracranial hypertension: case report and literature review 定义作为特发性颅内高压表现特征的面肌痉挛临床现象学:病例报告和文献综述。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-26 DOI: 10.1007/s13760-024-02629-3
Shreyashi Jha, Santosh Kumar Pendyala
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引用次数: 0
Acute disseminated encephalomyelitis following herpesvirus encephalitis in an adult: a case report. 成人疱疹病毒脑炎后的急性播散性脑脊髓炎:病例报告。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-24 DOI: 10.1007/s13760-024-02623-9
Yuya Kobayashi, Kazuki Kasuga, Yusaku Shimizu
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引用次数: 0
Respiratory functions, respiratory muscle strength and fatigue in patients with pediatric-onset multiple sclerosis: a comparative cross-sectional study. 小儿多发性硬化症患者的呼吸功能、呼吸肌强度和疲劳:一项横断面比较研究。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-21 DOI: 10.1007/s13760-024-02628-4
Pelin Vural, Buket Akinci, Serhat Guler, Sema Saltik, Yonca Zenginler Yazgan

Purpose: To compare PwPOMS and healthy controls in terms of respiratory functions, respiratory muscle strength, and fatigue, and investigate the determining role of fatigue on respiratory parameters.

Methods: Twenty-five PwPOMS and 15 healthy controls were included in the study. Maximum inspiratory pressure (MIP) and expiratory pressures (MEP) were measured. Respiratory functions were evaluated using spirometry, and predicted values were recorded for FEV1, FVC, FEV1/FVC, and PEF. Fatigue levels were assessed using the Pediatric Quality of Life Inventory Multidimensional Fatigue Scale (PedsQL-MFS).

Results: The FEV1%pred (p = 0.022), PEF%pred (p = 0.003), MIP (p = 0.001), and MEP (p = 0.019), cognitive fatigue self-reported score of PedsQL-MFS (p = 0.037), sleep-rest fatigue (p = 0.034), cognitive fatigue (p = 0.010), and total score (p = 0.005) of PedsQL-MFS Proxy Report were significantly decreased in PwPOMS compared with their healthy peers. Regression analysis showed that the general fatigue of self-reported PedsQL-MFS was a determinator for FEV1%pred (β= -0.467) and PEF% (β= -0.553), and total score PedsQL-MFS was a determinator for FEV1/FVC %pred (β= -0.599).

Conclusion: PwPOMS had decreased respiratory muscle strength, FEV1, and PEF, with preserved FEV1/FVC and higher fatigue levels than their healthy peers. In addition, self-reported fatigue had a determining role in respiratory functions but not respiratory muscle strength in PwPOMS. This trial is registered on ClinicalTrials.gov under "NCT05123924" available at: https://clinicaltrials.gov/ct2/show/NCT05123924 .

目的:比较 PwPOMS 和健康对照组在呼吸功能、呼吸肌力量和疲劳方面的情况,并研究疲劳对呼吸参数的决定性作用:研究纳入了 25 名 PwPOMS 和 15 名健康对照者。测量最大吸气压(MIP)和呼气压(MEP)。使用肺活量测定法评估呼吸功能,并记录 FEV1、FVC、FEV1/FVC 和 PEF 的预测值。疲劳程度采用儿科生活质量量表多维疲劳量表(PedsQL-MFS)进行评估:结果:FEV1%pred(p = 0.022)、PEF%pred(p = 0.003)、MIP(p = 0.001)和 MEP(p = 0.019)、PedsQL-MFS 的认知疲劳自述得分(p = 0.037)、睡眠-休息疲劳(p = 0.034)、认知疲劳(p = 0.010)和 PedsQL-MFS 代理报告总分(p = 0.005)与健康同龄人相比,PwPOMS 显著下降。回归分析显示,自我报告的 PedsQL-MFS 一般疲劳度是 FEV1%pred (β= -0.467) 和 PEF% (β= -0.553)的决定因素,而 PedsQL-MFS 总分是 FEV1/FVC %pred (β= -0.599)的决定因素:结论:与健康儿童相比,PwPOMS 患儿的呼吸肌强度、FEV1 和 PEF 均有所下降,但 FEV1/FVC 和疲劳程度却有所保留。此外,自我报告的疲劳对 PwPOMS 的呼吸功能有决定性作用,但对呼吸肌强度没有决定性作用。该试验已在 ClinicalTrials.gov 上注册,注册名为 "NCT05123924",网址为:https://clinicaltrials.gov/ct2/show/NCT05123924 。
{"title":"Respiratory functions, respiratory muscle strength and fatigue in patients with pediatric-onset multiple sclerosis: a comparative cross-sectional study.","authors":"Pelin Vural, Buket Akinci, Serhat Guler, Sema Saltik, Yonca Zenginler Yazgan","doi":"10.1007/s13760-024-02628-4","DOIUrl":"https://doi.org/10.1007/s13760-024-02628-4","url":null,"abstract":"<p><strong>Purpose: </strong>To compare PwPOMS and healthy controls in terms of respiratory functions, respiratory muscle strength, and fatigue, and investigate the determining role of fatigue on respiratory parameters.</p><p><strong>Methods: </strong>Twenty-five PwPOMS and 15 healthy controls were included in the study. Maximum inspiratory pressure (MIP) and expiratory pressures (MEP) were measured. Respiratory functions were evaluated using spirometry, and predicted values were recorded for FEV1, FVC, FEV1/FVC, and PEF. Fatigue levels were assessed using the Pediatric Quality of Life Inventory Multidimensional Fatigue Scale (PedsQL-MFS).</p><p><strong>Results: </strong>The FEV1%pred (p = 0.022), PEF%pred (p = 0.003), MIP (p = 0.001), and MEP (p = 0.019), cognitive fatigue self-reported score of PedsQL-MFS (p = 0.037), sleep-rest fatigue (p = 0.034), cognitive fatigue (p = 0.010), and total score (p = 0.005) of PedsQL-MFS Proxy Report were significantly decreased in PwPOMS compared with their healthy peers. Regression analysis showed that the general fatigue of self-reported PedsQL-MFS was a determinator for FEV1%pred (β= -0.467) and PEF% (β= -0.553), and total score PedsQL-MFS was a determinator for FEV1/FVC %pred (β= -0.599).</p><p><strong>Conclusion: </strong>PwPOMS had decreased respiratory muscle strength, FEV1, and PEF, with preserved FEV1/FVC and higher fatigue levels than their healthy peers. In addition, self-reported fatigue had a determining role in respiratory functions but not respiratory muscle strength in PwPOMS. This trial is registered on ClinicalTrials.gov under \"NCT05123924\" available at: https://clinicaltrials.gov/ct2/show/NCT05123924 .</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142016011","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
Non-invasive estimation of cerebrospinal fluid pressure in idiopathic intracranial hypertension: magnetic resonance imaging analysis of optic nerve and eyeball. 特发性颅内高压症脑脊液压力的无创估测:视神经和眼球的磁共振成像分析。
IF 2 4区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-16 DOI: 10.1007/s13760-024-02620-y
Aslı Yaman Kula, Yağmur Başak Polat, Bahar Atasoy, Mehmet Yiğit, Furkan Kırık, Özge Pasin, Alpay Alkan

Purpose: Invasive methods such as lumbar puncture and intraventricular catheters are commonly used to measure intracranial pressure (ICP). This study aims to develop quantitative and non-invasive techniques to measure ICP in patients with Idiopathic Intracranial Hypertension (IIH) using magnetic resonance imaging (MRI) findings.

Methods: MRI data obtained from 50 patients with IIH and 30 age- and sex- matched controls were analyzed and optic nerve sheath diameter (ONSD), eyeball transverse diameter (ETD) and optic nerve diameter (OND) were measured. ONSD, ONSD/ETD and OND/ONSD indexes were calculated according to different ONSD measurement distances. Correlations of MRI findings with ICP were calculated. Sensitivity and specificity of all methods were analyzed.

Results: ONSD and ONSD/ETD index at 3 mm and 10 mm behind the eyeball were significantly higher (p < 0.001) and OND/ONSD index at 3 mm behind the eyeball was significantly lower (p < 0.001) in the IIH group. The ONSD/ETD index at 3 mm had the highest area under the curve (AUC) value (0.898) with a cut-off of 0.27 mm (82% sensitivity and 91.67% specificity) for predicting high cerebrospinal fluid (CSF) pressure, followed by ONSD measurements at 3 mm (AUC = 0.886) with a cut-off of 6.17 mm (83% sensitivity and 86.67% specificity). The OND/ONSD index at 3 mm posterior to the eyeball decreased significantly as ICP increased, and the strength of the relationship was moderate (p < 0.001; r = -0.358).

Conclusions: ONSD and ONSD/ETD index measured on MRI sequences are potentially useful in detecting elevated ICP. The OND/ONSD index correlates with CSF pressure and these techniques may be helpful in diagnosing IIH.

目的:腰椎穿刺和脑室内导管等侵入性方法通常用于测量颅内压(ICP)。本研究旨在开发定量和无创技术,利用磁共振成像(MRI)结果测量特发性颅内高压症(IIH)患者的 ICP:分析了 50 名 IIH 患者和 30 名年龄和性别匹配的对照组患者的 MRI 数据,并测量了视神经鞘直径 (ONSD)、眼球横径 (ETD) 和视神经直径 (OND)。根据不同的视神经鞘测量距离,计算出视神经鞘直径(ONSD)、ONSD/ETD和OND/ONSD指数。计算核磁共振成像结果与 ICP 的相关性。分析了所有方法的敏感性和特异性:结果:眼球后 3 毫米和 10 毫米处的 ONSD 和 ONSD/ETD 指数显著较高(P在 MRI 序列上测量的 ONSD 和 ONSD/ETD 指数可用于检测 ICP 升高。OND/ONSD指数与脑脊液压力相关,这些技术可能有助于诊断IIH。
{"title":"Non-invasive estimation of cerebrospinal fluid pressure in idiopathic intracranial hypertension: magnetic resonance imaging analysis of optic nerve and eyeball.","authors":"Aslı Yaman Kula, Yağmur Başak Polat, Bahar Atasoy, Mehmet Yiğit, Furkan Kırık, Özge Pasin, Alpay Alkan","doi":"10.1007/s13760-024-02620-y","DOIUrl":"https://doi.org/10.1007/s13760-024-02620-y","url":null,"abstract":"<p><strong>Purpose: </strong>Invasive methods such as lumbar puncture and intraventricular catheters are commonly used to measure intracranial pressure (ICP). This study aims to develop quantitative and non-invasive techniques to measure ICP in patients with Idiopathic Intracranial Hypertension (IIH) using magnetic resonance imaging (MRI) findings.</p><p><strong>Methods: </strong>MRI data obtained from 50 patients with IIH and 30 age- and sex- matched controls were analyzed and optic nerve sheath diameter (ONSD), eyeball transverse diameter (ETD) and optic nerve diameter (OND) were measured. ONSD, ONSD/ETD and OND/ONSD indexes were calculated according to different ONSD measurement distances. Correlations of MRI findings with ICP were calculated. Sensitivity and specificity of all methods were analyzed.</p><p><strong>Results: </strong>ONSD and ONSD/ETD index at 3 mm and 10 mm behind the eyeball were significantly higher (p < 0.001) and OND/ONSD index at 3 mm behind the eyeball was significantly lower (p < 0.001) in the IIH group. The ONSD/ETD index at 3 mm had the highest area under the curve (AUC) value (0.898) with a cut-off of 0.27 mm (82% sensitivity and 91.67% specificity) for predicting high cerebrospinal fluid (CSF) pressure, followed by ONSD measurements at 3 mm (AUC = 0.886) with a cut-off of 6.17 mm (83% sensitivity and 86.67% specificity). The OND/ONSD index at 3 mm posterior to the eyeball decreased significantly as ICP increased, and the strength of the relationship was moderate (p < 0.001; r = -0.358).</p><p><strong>Conclusions: </strong>ONSD and ONSD/ETD index measured on MRI sequences are potentially useful in detecting elevated ICP. The OND/ONSD index correlates with CSF pressure and these techniques may be helpful in diagnosing IIH.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987143","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
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Acta neurologica Belgica
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