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Helping the patients find their voice. 帮助病人找到自己的声音。
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2024-12-11 DOI: 10.5603/pjnns.102092
Małgorzata Dec-Ćwiek, Anna Julia Krupa, Marcin Siwek
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引用次数: 0
Uncommon localised form of axonal injury involving pontes grisei caudatolenticulares. 涉及尾状腱膜的罕见局部轴突损伤。
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-01-15 DOI: 10.5603/pjnns.102233
Francisca Sena Batista, Filipa Castelão, Carlos Casimiro, Lígia Neves, Denil Champac Tribovane
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引用次数: 0
Assessment of redox balance parameters among patients with acute ischaemic stroke. 急性缺血性脑卒中患者氧化还原平衡参数的评估。
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-05-30 DOI: 10.5603/pjnns.104354
Anna Mirończuk, Katarzyna Kapica Topczewska, Jacek Jamiołkowski, Monika Grabia, Agata Czarnowska, Agnieszka Mitrosz, Dominika Jakubowicz Lachowska, Joanna Tarasiuk, Joanna Kulikowska, Paulina Matys, Cezary Grunwald, Monika Chorąży, Katarzyna Socha, Alina Kułakowska, Jan Kochanowicz

Clinical rationale for study: Oxidative stress (OS) is believed to play a crucial role in the development of neuronal injury associated with ischaemic stroke (IS). The evaluation of redox homeostasis in patients with acute ischaemic stroke (AIS) and its relation to stroke subtypes and short-term outcomes has scarcely been studied, and the findings are unclear.

Aim of study: This study evaluates OS and antioxidant status in patients with AIS in the Podlaskie Voivodeship in Poland within 2-5 days of stroke onset, compared to healthy controls.

Material and methods: The study involved 187 patients with AIS, with 85 receiving intravenous thrombolysis and/or mechanical thrombectomy, and included 94 healthy controls as a comparison group. The research measured serum total oxidant status (TOS) and total antioxidant status (TAS) using Erel's method-based kits, and calculated the oxidative stress index (OSI).

Results: Significant differences were found in TOS levels between patients with AIS and healthy controls (p = 0.049). Serum TAS concentrations were significantly higher in patients with AIS due to large artery atherosclerosis (LAA) than in those with cardioembolism (CE) or small vessel occlusion (SVO) aetiology, as classified by the Trial of Org 10172 in Acute Stroke Treatment (TOAST) criteria (p = 0.043). Receiver Operating Characteristic (ROC) curve analysis established cut-off values as potential indicators of OS in patients with AIS: TAS < 1.34 mmol/L, TOS > 5.6 μmol H2O2 equiv./L, and OSI > 3.96.

Conclusions and clinical implications: Our findings demonstrate that an imbalance of oxidant and antioxidant status might play a role in the pathogenesis of IS. Patients in the initial phase of IS showed increased TOS, but no change in TAS, compared to healthy controls. This suggests effective initial antioxidant defence. TOS levels exhibited potential utility as clinical diagnostic biomarkers in patients with AIS. Although an imbalance towards oxidants may play a role in the pathogenesis of IS, these markers alone do not adequately predict stroke severity. Therefore, an analysis of the oxidant and antioxidant balance could play a crucial role in clarifying the pathogenic pathways of IS, presenting valuable diagnostic and prognostic tools, and identifying novel targets for antioxidant-focused therapies with neuroprotective agents.

临床研究理由:氧化应激(OS)被认为在缺血性卒中(is)相关神经元损伤的发展中起着至关重要的作用。急性缺血性卒中(AIS)患者氧化还原稳态的评估及其与卒中亚型和短期预后的关系几乎没有研究,研究结果也不清楚。研究目的:本研究评估波兰Podlaskie省AIS患者脑卒中后2-5天内的OS和抗氧化状态,并与健康对照进行比较。材料和方法:本研究纳入187例AIS患者,其中85例接受静脉溶栓和/或机械取栓,94例健康对照作为对照组。采用基于Erel方法的试剂盒测定血清总氧化状态(TOS)和总抗氧化状态(TAS),计算氧化应激指数(OSI)。结果:AIS患者与健康对照组之间TOS水平差异有统计学意义(p = 0.049)。根据急性卒中治疗(TOAST)标准的Org 10172试验,由大动脉粥样硬化(LAA)引起的AIS患者的血清TAS浓度显著高于心脏栓塞(CE)或小血管闭塞(SVO)病因的AIS患者(p = 0.043)。受试者工作特征(ROC)曲线分析建立了截断值作为AIS患者OS的潜在指标:TAS < 1.34 mmol/L, TOS > 5.6 μmol H2O2当量/L, OSI > 3.96。结论和临床意义:我们的研究结果表明,氧化和抗氧化状态的不平衡可能在IS的发病机制中起作用。与健康对照相比,IS初始期患者TOS增加,但TAS无变化。这表明初始抗氧化防御是有效的。TOS水平在AIS患者中显示出作为临床诊断生物标志物的潜在效用。虽然对氧化剂的不平衡可能在IS的发病机制中起作用,但仅凭这些标志物并不能充分预测中风的严重程度。因此,分析氧化剂和抗氧化剂的平衡可以在阐明IS的致病途径,提供有价值的诊断和预后工具,以及确定以抗氧化剂为重点的神经保护药物治疗的新靶点方面发挥关键作用。
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引用次数: 0
Extensive spinal epidural abscess involving entire spinal canal. 广泛的脊髓硬膜外脓肿,累及整个椎管。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-07-21 DOI: 10.5603/pjnns.106423
Dariusz Dziubek, Karolina Dziubek, Marcelina Stodolak
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引用次数: 0
Selected aspects of epidemiology of multiple sclerosis in Poland: a multicenter pilot study. 波兰多发性硬化症流行病学的选定方面:一项多中心试点研究。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-11-20 DOI: 10.5603/pjnns.107231
Joanna Tarasiuk, Katarzyna Kapica-Topczewska, Agata Czarnowska, Monika Chorąży, Katarzyna Krystyna Snarska, Jan Kochanowicz, Halina Bartosik-Psujek, Iwona Rościszewska-Żukowska, Jolanta Czarnota, Alicja Kalinowska, Karolina Kania, Wojciech Ambrosius, Joanna Siuda, Weronika Galus, Anna Walawska-Hrycek, Aleksandra Kaczmarczyk, Martyna Odzimek-Rajska, Piotr Dubiński, Anna Jamroz-Wiśniewska, Konrad Rejdak, Marta Milewska-Jędrzejczak, Andrzej Głąbiński, Izabela Domitrz, Patryk Sochań, Natalia Bednarczyk, Katarzyna Kubicka-Bączyk, Robert Kwinta, Monika Adamczyk-Sowa, Ewa Krzystanek, Anetta Lasek-Bal, Katarzyna Maciejowska, Jacek Zaborski, Aleksandra Podulka, Marek Klus, Małgorzata Dorobek, Justyna Zielińska-Turek, Witold Palasik, Anna Pokryszko-Dragan, Justyna Chojdak-Łukasiewicz, Monika Nojszewska, Aleksandra Podlecka-Piętowska, Kinga Sujkowska, Beata Zakrzewska-Pniewska, Jacek Zwiernik, Anna Litwin, Aleksandra Chmielewska, Ihor Kazmierchuk, Magdalena Piwowarska, Beata Szajnoga, Natalia Kliszczak, Sonia Wiercimok, Monika Poziombka-Kaźmierczak, Beata Zwiernik, Marcin Mycko, Tomasz Siwek, Waldemar Brola, Alina Kułakowska

Introduction: Multiple sclerosis (MS) is a progressive disease that, if untreated, leads to significant disability. In recent years, several effective disease-modifying therapies (DMTs) have been approved in the European Union and are now available in Poland. This study aimed to evaluate the selected epidemiological and clinical aspects of Polish individuals with MS and to compare the findings with data collected 15 years ago.

Material and methods: Sociodemographic and clinical data were collected from patients with MS between February and April 2024 using a standardized questionnaire across 19 treatment centers in Poland.

Results: The study included 3,165 MS patients (mean age, 42.03 years; female-to-male ratio, 2.2:1). The mean disease duration was 10.6 ± 7.85 years, with symptom onset at 30.66 ± 9.84 years and diagnosis at 32.74 ± 10.22 years. The mean Expanded Disability Status Scale (EDSS) score was 2.58 ± 1.6, with mild disability (EDSS 0-3.5) in 78.35% of patients and moderate-to-severe disability (EDSS ≥ 4.0) in 21.65%. Multiple sclerosis subtypes included relapsing-remitting (RRMS) (86.87%), secondary progressive (SPMS) (7.04%), and primary progressive (PRMS) (6.03%). Relapses occurred in 20.43% of patients within the last year, with an overall annual relapse rate of 1.2 in this group. Monofocal onset of the disease was observed in 87.05% of patients, and multifocal onset in 12.95%. Comorbidities were present in 59.73% of patients. Diagnostic tests included magnetic resonance imaging (MRI) (99.84% of patients), cerebrospinal fluid (CSF) analysis (90.91% of patients), visual evoked potentials (VEP) (32.41% of patients), and optical coherence tomography (OCT) (16.11% of patients). At the time of data collection, 97.09% of patients were receiving DMTs, with the following distribution: dimethyl fumarate (25.91%), ofatumumab (16.44%), ocrelizumab (8.62%), teriflunomide (7.44%), natalizumab (5.80%), interferon beta-1a (5.58%), interferon beta-1b (4.97%), ozanimod (4.69%), siponimod (4.15%), glatiramer acetate (4.05%), fingolimod (3.29%), cladribine (3.20%), ponesimod (1.96%), and other therapies (0.88%).

Conclusions: This study highlights substantial progress in the diagnostic and therapeutic management of MS in Poland over the past 15 years. The widespread implementation of MRI and CSF analysis, alongside significantly improved access to DMTs, has contributed to notably better clinical outcomes. These improvements are reflected in reduced relapse rates, slower disability progression, and a decreased prevalence of secondary progressive MS.

简介:多发性硬化症(MS)是一种进行性疾病,如果不治疗,会导致严重的残疾。近年来,欧洲联盟批准了几种有效的疾病修饰疗法(dmt),现在波兰也可以使用。本研究旨在评估波兰多发性硬化症患者的流行病学和临床方面,并将研究结果与15年前收集的数据进行比较。材料和方法:2024年2月至4月期间,在波兰19个治疗中心使用标准化问卷收集MS患者的社会人口统计学和临床数据。结果:纳入MS患者3165例,平均年龄42.03岁,男女比例2.2:1。平均病程10.6±7.85年,发病时间30.66±9.84年,诊断时间32.74±10.22年。扩展残疾状态量表(EDSS)平均评分为2.58±1.6分,其中轻度残疾(EDSS 0 ~ 3.5)占78.35%,中度至重度残疾(EDSS≥4.0)占21.65%。多发性硬化症亚型包括复发缓解型(RRMS)(86.87%)、继发性进展型(SPMS)(7.04%)和原发性进展型(PRMS)(6.03%)。20.43%的患者在过去一年内复发,该组总体年复发率为1.2。87.05%的患者为单灶发病,12.95%为多灶发病。59.73%的患者存在合并症。诊断检查包括磁共振成像(MRI)(99.84%)、脑脊液(CSF)分析(90.91%)、视觉诱发电位(VEP)(32.41%)和光学相干断层扫描(OCT)(16.11%)。收集数据时,97.09%的患者接受dmt治疗,分布如下:富马酸二甲酯(25.91%)、ofatumumab(16.44%)、ocrelizumab(8.62%)、teriflunomide(7.44%)、natalizumab(5.80%)、干扰素β -1a(5.58%)、干扰素β -1b(4.97%)、ozanimod(4.69%)、siponimod(4.15%)、醋酸格拉替默(4.05%)、fingolimod(3.29%)、cladribine(3.20%)、ponesimod(1.96%)和其他治疗(0.88%)。结论:这项研究突出了过去15年来波兰MS诊断和治疗管理的实质性进展。MRI和CSF分析的广泛实施,以及dmt的显著改善,显著改善了临床结果。这些改善反映在复发率降低、残疾进展减慢和继发性进展性MS患病率降低上。
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引用次数: 0
Erdheim-Chester disease is often complicated by neurological disorders. 埃尔德海姆-切斯特病通常会并发神经系统疾病。
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2024-11-06 DOI: 10.5603/pjnns.102491
Josef Finsterer, Sounira Mehri
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引用次数: 0
DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome. DNAJC30 变体也可表现为利/LHON 重叠综合征。
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2024-11-27 DOI: 10.5603/pjnns.103221
Josef Finsterer
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引用次数: 0
Neurotoxicity of levodopa/carbidopa intestinal gel preparations can cause polyneuropathy in Parkinson's Disease patients. 左旋多巴/卡比多巴肠道凝胶制剂的神经毒性可引起帕金森病患者的多神经病变。
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-01-30 DOI: 10.5603/pjnns.104394
Josef Finsterer
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引用次数: 0
Metabolic effects of deep brain stimulation in Parkinson's disease - a systematic review and meta-analysis. 脑深部刺激对帕金森病代谢的影响——一项系统综述和荟萃分析。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-06-11 DOI: 10.5603/pjnns.100297
Julia Węgrzynek-Gallina, Tomasz Chmiela, Amadeusz Kasprzyk, Michał Borończyk, Joanna Siuda

Introduction: Deep brain stimulation (DBS) is an effective therapy for patients with advanced Parkinson's Disease (PD). The significant improvement in motor symptoms is undeniable. However, adverse events from the procedure can also occur.

Clinical rationale for study: Several sources have confirmed metabolic changes after a DBS procedure. However, there is no summary of the current state of knowledge about the impact of DBS on metabolic parameters changes expressed in weight gain in PD individuals, something which could guide further research.

Material and methods: We conducted a systematic review following PRISMA recommendations on articles evaluating a gain of weight and/or body mass index (BMI) after subthalamic nucleus (STN) DBS, globus pallidus internus (GPi) DBS, and ventral intermediate nucleus of the thalamus (VIM) DBS in patients with PD. Four databases were searched by two independent authors according to the established criteria. The collected data involved body mass, BMI or changes in these parameters before DBS and after the procedure, mean age of patients, disease duration, gender, L-dopa equivalent daily dose, and the Unified Parkinson's Disease Rating Scale part III.

Results: Of 1,290 articles found, 30 were evaluated as eligible and were included in the analysis. The study sample size ranged from 10 to 124 patients (mean, 32.6 ± 23.5, N = 1,110). The mean age across studies was 59.8 ± 7.5 (range 51.8 - 66, N = 636) years with mean value of the last follow-up point 13.6 ± 8.9 (range 1-38) months. A meta-analysis was performed for STN-DBS only, due to limited data on GPi-DBS and VIM-DBS. The mean body weight was higher by 6.15 kg one year after STN-DBS procedure (p < 0.001, 95% CI: 4.49-7.81), which was associated with statistically non-significant heterogeneity. It showed an increase in BMI of 1.87 kg/m2 (p < 0.001, 95% CI: 1.11-2.64). In this comprehensive review, possible causes of this state are identified, as well as the DBS impact on glucose and lipid profile.

Conclusions: STN-DBS procedures contribute to significant weight gain in PD patients. A precise mechanism of this phenomenon has several possible explanations. Until this issue is fully clarified, we believe it is necessary to continuously monitor metabolic parameters and closely observe cardiometabolic risk in this group of patients.

脑深部电刺激(DBS)是治疗晚期帕金森病(PD)的有效方法。运动症状的显著改善是不可否认的。然而,手术过程中的不良事件也可能发生。临床研究理由:几个来源证实了DBS手术后的代谢变化。然而,目前关于DBS对PD个体体重增加所表达的代谢参数变化的影响的知识状况没有总结,这可以指导进一步的研究。材料和方法:我们根据PRISMA的建议,对PD患者丘脑下核(STN) DBS、内白球(GPi) DBS和丘脑腹侧中间核(VIM) DBS后体重和/或体重指数(BMI)增加的文章进行了系统综述。根据既定标准,由两名独立作者检索了四个数据库。收集的数据包括DBS术前和术后的体重、BMI或这些参数的变化、患者的平均年龄、病程、性别、左旋多巴当量日剂量和统一帕金森病评定量表第三部分。结果:在发现的1290篇文献中,有30篇被评估为符合条件并被纳入分析。研究样本量为10 ~ 124例(平均32.6±23.5,N = 1110)。研究的平均年龄为59.8±7.5岁(范围51.8 - 66,N = 636)岁,最后一次随访点的平均值为13.6±8.9个月(范围1-38)个月。由于GPi-DBS和VIM-DBS数据有限,仅对STN-DBS进行了荟萃分析。STN-DBS手术后1年的平均体重增加了6.15 kg (p < 0.001, 95% CI: 4.49-7.81),这与统计学上无显著异质性相关。BMI增加1.87 kg/m2 (p < 0.001, 95% CI: 1.11-2.64)。在这篇全面的综述中,确定了这种状态的可能原因,以及DBS对葡萄糖和脂质谱的影响。结论:STN-DBS手术导致PD患者体重显著增加。这种现象的精确机制有几种可能的解释。在这一问题得到充分澄清之前,我们认为有必要对这组患者的代谢参数进行持续监测,并密切观察心脏代谢风险。
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引用次数: 0
Frequently observed polyneuropathy expands phenotypic spectrum of apparently pure autosomal dominant hereditary spastic paraplegias. 经常观察到的多神经病变扩大了明显纯常染色体显性遗传性痉挛性截瘫的表型谱。
IF 2.9 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 Epub Date: 2025-05-26 DOI: 10.5603/pjnns.101154
Iwona Stępniak, Maria Rakowicz, Wanda Lipczyńska-Łojkowska, Anna Sobańska, Ewelina Elert-Dobkowska, Wioletta Krysa, Marta Rajkiewicz, Anna Wasielewska-Hobot, Monika Rudzińska, Jacek Pilch, Grzegorz Makowicz, Jacek Zaremba, Anna Sułek

Background: Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous, progressive disorders with a broad spectrum of clinical presentation. Among autosomal dominant inherited forms of HSP, the most common are SPG4, SPG3 and SPG31.

Material and methods: Our aim was the clinical characterisation of a large group of patients with SPG4, SPG3 and SPG31. Neurological assessments as well as neuroimaging, electrophysiological, neuropsychological and ophthalmological examinations were performed to characterise in detail the clinical picture in HSP patients.

Results: In our study group of 179 individuals from 60 families, three forms of AD-HSP: SPG4, SPG3 and SPG31 were diagnosed in 125, 36 and 18 patients, respectively. 48 of the probands had a positive family history of autosomal dominant hereditary disorder, while the other 12 probands represented apparently isolated cases. The pure form of HSP (pHSP) was found in a large majority (138 symptomatic patients), whereas a distinctly complex phenotype (cHSP) was found only in 32 individuals. The number of patients with cHSP became greater after including the results of electroneurography.

Conclusions: The primarily pure form of HSP is present in patients with SPG4, SPG3 and SPG31. Nevertheless, the presence of additional symptoms provides evidence that in AD-HSP not only the cortico-spinal tract is involved. The most common additional symptom is polyneuropathy. We suggest that all patients with a genetic diagnosis of SPG4 and SPG3 should have electrophysiological testing performed, and then periodically repeated, for the purpose of controlling the involvement of peripheral nerves. We found a considerable variability, including in terms of age at onset and the progression rate of disability, mainly in SPG4.

背景:遗传性痉挛性截瘫(HSPs)是一组遗传异质性的进行性疾病,具有广泛的临床表现。在常染色体显性遗传型HSP中,最常见的是SPG4、SPG3和SPG31。材料和方法:我们的目的是研究一大批患有SPG4、SPG3和SPG31的患者的临床特征。进行神经学评估以及神经影像学、电生理、神经心理学和眼科检查,以详细描述HSP患者的临床症状。结果:在我们的研究组中,来自60个家庭的179名个体,分别在125例、36例和18例患者中诊断出三种AD-HSP: SPG4、SPG3和SPG31。48名先证者有阳性的常染色体显性遗传病家族史,而其他12名先证者显然是孤立的病例。绝大多数(138例有症状的患者)发现了纯形式的HSP (pHSP),而明显复杂的表型(cHSP)仅在32例患者中发现。包括神经电图结果后,cHSP患者人数增加。结论:SPG4、SPG3和SPG31患者中主要存在纯HSP。然而,其他症状的出现证明AD-HSP不仅涉及皮质-脊髓束。最常见的附加症状是多发性神经病变。我们建议所有遗传诊断为SPG4和SPG3的患者都应进行电生理测试,然后定期重复,以控制周围神经的受累。我们发现了相当大的可变性,包括发病年龄和残疾进展率,主要是在SPG4。
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引用次数: 0
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Neurologia i neurochirurgia polska
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