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Endovascular treatment of intracranial dural arteriovenous fistulas - a single center's experience and literature overview. 颅内硬脑膜动静脉瘘的血管内治疗-单中心经验及文献综述。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-30 DOI: 10.5603/pjnns.109515
Tomasz Roman, Paweł Szmygin, Joanna Bosowska, Radosław Rola, Maciej Szmygin

Aim of the study: Intracranial dural arteriovenous fistulas (DAVFs) are rare vascular malformations characterized by arteriovenous shunting within the dura mater. They are classified according to venous drainage patterns that correlate with clinical severity and hemorrhagic risk. Treatment options include surgery, radiosurgery and especially endovascular embolization. The aim of this article is to present our center's experience with endovascular treatment of DAVFs with a focus on the technical aspects and clinical results.

Material and methods: In this single-center study, we reviewed data from consecutive patients with DAVF who underwent embolization from 2015 to 2024. The efficacy of embolization, the method of embolization, as well as the rate of complication, were noted.

Results: A total of 48 patients with an average age of 53 years underwent selective embolization of DAVFs, the vast majority of them via the transarterial approach (46.96%). Prior to the procedure, the most common complaints included headache, intracranial hemorrhage and tinnitus. Satisfactory long-term embolization was achieved in 42 cases (88%). The most commonly used embolic agents included Onyx and nbutyl cyanoacrylate (n-BCA), and the most common culprit vessels were middle meningeal and occipital arteries. With the exception of minor intraprocedural difficulties, there were no serious complications associated with embolization. No neurological deficits occurred in relation to the endovascular procedure. Clinical improvement was reported by 35 patients (73%).

Conclusions: The results of our study indicate that endovascular treatment of DAVFs achieves a high rate of complete occlusion in the majority of cases. It is associated with a low complication rate and can be successfully performed across all DAVF types.

研究目的:颅内硬脑膜动静脉瘘(DAVFs)是一种罕见的以硬脑膜内动静脉分流为特征的血管畸形。根据与临床严重程度和出血风险相关的静脉引流模式进行分类。治疗方案包括手术、放射手术,尤其是血管内栓塞。本文的目的是介绍我中心在davf血管内治疗方面的经验,重点是技术方面和临床结果。材料和方法:在这项单中心研究中,我们回顾了2015年至2024年连续接受栓塞治疗的DAVF患者的数据。观察两组患者的栓塞效果、栓塞方法及并发症发生率。结果:48例患者接受选择性动脉栓塞治疗,平均年龄53岁,绝大多数患者经动脉栓塞(46.96%)。在手术之前,最常见的症状包括头痛、颅内出血和耳鸣。42例(88%)获得满意的长期栓塞。最常用的栓塞剂包括玛瑙和氰基丙烯酸丁酯(n-BCA),最常见的罪魁祸首血管是脑膜中动脉和枕动脉。除了轻微的术中困难外,没有与栓塞相关的严重并发症。血管内手术未出现神经功能缺损。35例患者(73%)报告临床改善。结论:我们的研究结果表明,在大多数情况下,血管内治疗可达到很高的完全闭塞率。它的并发症发生率低,可以成功地在所有DAVF类型中进行。
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引用次数: 0
Intracranial hemorrhage after evacuation of chronic subdural hematoma: systematic review. 慢性硬膜下血肿引流后颅内出血:系统回顾。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-30 DOI: 10.5603/pjnns.109813
Rami Yuser, Justyna Fercho, Konrad Duszyński, Julia Stelmach, Klaudia Kokot, Michalina Dudra, Oskar Chasles, Mateusz Motowidło, Jacek Szypenbejl, Tomasz Szmuda, Mariusz Siemiński

Introduction: Intracranial hemorrhage (ICH) after surgical evacuation of chronic subdural hematoma (cSDH) is a rare but serious complication associated with considerable morbidity and mortality. This review aims to provide an updated estimate, from existing literature, of the prevalence of ICH and to analyze the clinical features, potential risk factors, treatment approaches, and outcomes in a cohort of 76 patients.

Clinical rationale for the study: Because postoperative ICH can rapidly deteriorate neurological status and complicate recovery, understanding its prevalence and determinants is essential for improving safety in cSDH surgery.

Material and methods: Two systematic searches of the PubMed, Scopus, and Medical Literature Analysis and Retrieval System Online (MEDLINE) databases were conducted in accordance with Preferred Reporting Items for Systematic Reviews and MetaAnalyses (PRISMA) guidelines on September 20th, 2025. The first search resulted in the inclusion of 18 articles, which were included in an analysis of the prevalence of ICH. The second search resulted in the inclusion of 56 articles, encompassing detailed clinical data on 76 patients who experienced postoperative ICH following surgical evacuation of cSDH.

Results: The prevalence of ICH after cSDH surgery was 2.3%. Patients' ages ranged from 22 to 93 years (mean: 66.5 years), with 79% being male. The most common type of postoperative ICH was intraparenchymal hemorrhage (IPH) (73.7%), followed by subdural hemorrhage (14.5%). ICH occurred on average 1.7 days after the procedure. Dominant symptoms of ICH post evacuation included the following: altered mental status (47.4%), motor weakness (30.3%), and headache (21.05%). Significant correlations between preoperative hypertension, antiplatelet therapy, IPH, and worse outcome (mRS > 3) have been established.

Conclusion and clinical implications: The data suggest that patients suffering from hypertension and using antiplatelet therapy may be predisposed to poorer outcomes. Stratification of patients based on comorbidities, scrupulous preparation of patients, and careful perioperative care may play a role in reducing ICH occurrence and improving patient prognosis.

慢性硬膜下血肿(cSDH)术后颅内出血(ICH)是一种罕见但严重的并发症,具有相当高的发病率和死亡率。本综述旨在根据现有文献对脑出血患病率进行最新估计,并分析76例患者的临床特征、潜在危险因素、治疗方法和结局。研究的临床理由:由于术后脑出血可迅速恶化神经系统状态并使恢复复杂化,了解其患病率和决定因素对于提高cSDH手术的安全性至关重要。材料和方法:根据系统评价和荟萃分析(PRISMA)指南的首选报告项目,于2025年9月20日对PubMed、Scopus和医学文献分析和检索系统在线(MEDLINE)数据库进行了两次系统检索。第一次检索结果是纳入了18篇文章,这些文章被纳入了对ICH患病率的分析。第二次检索纳入了56篇文章,包括76例cSDH术后ICH患者的详细临床数据。结果:cSDH术后脑出血发生率为2.3%。患者年龄从22岁到93岁不等(平均66.5岁),79%为男性。术后脑出血最常见的类型是肝实质内出血(IPH)(73.7%),其次是硬膜下出血(14.5%)。脑出血平均发生在手术后1.7天。脑出血疏散后的主要症状包括:精神状态改变(47.4%)、运动无力(30.3%)和头痛(21.05%)。术前高血压、抗血小板治疗、IPH和较差预后(mRS >3)之间存在显著相关性。结论和临床意义:数据提示高血压患者和使用抗血小板治疗可能倾向于较差的结果。根据合并症对患者进行分层,对患者进行精心的准备,并进行精心的围手术期护理,可能在减少脑出血发生和改善患者预后方面发挥作用。
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引用次数: 0
Intravenous thrombolysis in central retinal artery occlusion as an effective and safe treatment. 静脉溶栓治疗视网膜中央动脉闭塞是一种安全有效的治疗方法。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-29 DOI: 10.5603/pjnns.108173
David Cernik, Zuzana Eichlova, Sona Bikova, Petr Jansky, Simona Vondrackova, Marta Vachova, Jan Macko, Roman Havlicek, Martina Odvarkova, Jan Bilik, David Cihlar, Jiri Neumann

Introduction: Central retinal artery occlusion (CRAO) is a relatively rare but underestimated medical emergency leading to severe vision loss. It is considered the ocular equivalent of ischemic stroke. There is still no definite recommendation for treatment. Currently considered and one of the increasingly preferred options is intravenous thrombolysis (IVT). Presented here are the results of a multicenter retrospective study to assess the safety and effectiveness of thrombolytic treatment in CRAO.

Material and methods: All patients with CRAO from eight centers who received IVT were included in the retrospective study. The effectiveness of the intervention was evaluated in two stages. The first stage was when the residual vision in the affected eye was achieved at least to the level of the ability to orientate in space (recognizing contours). The second stage was the improvement of vision to recognize objects and faces. The effectiveness was further evaluated depending on the duration of the difficulties before the intervention. Safety was assessed based on the symptomatic intracerebral hemorrhage (SICH).

Results: Sixty-four patients (age 67.9 ± 12.0 years, 51.6% men) were treated for CRAO with IVT. The median time from onset of symptoms to treatment was 4.5 hours. Improvement after treatment occurred in 60.9% (recognition of contours) and significant improvement in 39.1% (recognition of faces, ability to read). Intracerebral hemorrhage occurred in 6.3%. One fatal SICH was recorded. Two patients had vitreous hemorrhage. In both cases, vision improved to excellent condition.

Conclusions: Treatment of CRAO with IVT can be considered effective and safe. Secondary prevention should be in line with acute ischemic stroke (AIS) standards.

视网膜中央动脉闭塞(CRAO)是一种相对罕见但被低估的医疗紧急情况,可导致严重的视力丧失。它被认为是眼部的缺血性中风。目前还没有明确的治疗建议。目前,静脉溶栓(IVT)是一种越来越受欢迎的治疗方法。本文介绍了一项多中心回顾性研究的结果,以评估cro溶栓治疗的安全性和有效性。材料与方法:回顾性研究所有来自8个中心的cro患者均接受了IVT治疗。干预措施的有效性分为两个阶段进行评估。第一阶段是当受影响的眼睛的剩余视力至少达到在空间中定位的能力水平(识别轮廓)。第二阶段是视力的提高,以识别物体和面孔。根据干预前困难的持续时间进一步评估其有效性。安全性评估基于症状性脑出血(siich)。结果:64例cro患者(年龄67.9±12.0岁,男性51.6%)接受IVT治疗。从症状出现到治疗的中位时间为4.5小时。治疗后60.9%的患者(轮廓识别)改善,39.1%的患者(面部识别、阅读能力)显著改善。脑出血发生率为6.3%。记录了一例致命的SICH。2例患者有玻璃体出血。在这两种情况下,视力都改善到极好的状态。结论:静脉滴注治疗cro是安全有效的。二级预防应符合急性缺血性卒中(AIS)标准。
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引用次数: 0
Myotonia congenita - a diagnosis that can be made regardless of the patient's age. 先天性肌强直-一种无论患者年龄大小都能确诊的疾病。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-28 DOI: 10.5603/pjnns.106953
Beata Śliwińska, Agata Pastorczak, Andrzej Zwierzchowski, Jacek Rożniecki, Mariusz Stasiołek, Mariola Świderek-Matysiak
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引用次数: 0
Artificial intelligence-based software to support mechanical thrombectomy transfer decision in low-volume primary stroke centers: a multicenter, retrospective study. 基于人工智能的软件支持小容量原发性卒中中心的机械取栓转移决策:一项多中心回顾性研究
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-22 DOI: 10.5603/pjnns.106121
Marcin Wiącek, Katarzyna Koszarska, Aleksandra Kotlińska, Katarzyna Wąchała, Sylwia Lepak, Katarzyna Jucha, Rafał Kaczorowski, Halina Bartosik-Psujek

Introduction: To assess the potential benefit of artificial intelligence (AI) based imaging software in supporting mechanical thrombectomy (MT) transfer decisions in patients with acute ischemic stroke (AIS) referred from low-volume primary stroke centers (PSCs).

Clinical rationale for the study: Many MT-eligible patients are initially managed in PSCs, which often lack advanced imaging capabilities, stroke imaging expertise, and efficient interhospital image transfer systems. Artificial intelligence-based tools for automated large vessel occlusion (LVO) detection have shown promising results in improving stroke workflow metrics, yet data from low-volume PSCs remain limited.

Material and methods: This study presents a multicenter, retrospective analysis of 109 AIS patients transferred for anterior circulation LVO MT from five low-volume PSCs in Poland over a 53-month period (≤ 1 MT transfer/center/month). Standard imaging was retrospectively assessed using Brainomix 360 (Brainomix USA Inc., Chicago, USA) to assess early ischemic changes, collateral status, and LVO location. Two blinded vascular neurologists independently simulated transfer decisions based on post-processed imaging. Large vessel occlusion detection sensitivity and potential changes in transfer eligibility were analyzed. The workflow time parameters were compared to the comprehensive stroke center (CSC) cohort with a routine AI-assisted evaluation (n = 69). The maximal expected time benefit from AI implementation was also estimated.

Results: Artificial intelligence-based sensitivity for anterior circulation LVO detection was 83.5% [95% confidence interval (CI) 76.5-90.5], significantly higher for M1 than for internal carotid artery (ICA) occlusions (95.2% vs. 63.9%, p < 0.01). Among included patients, 78.9% (95% CI 70.3-85.5) were simulated as eligible and could potentially benefit from shorter workflow times. This is supported by the significantly shorter computed tomography angiography (CTA) to endovascular treatment (EVT) notification time in the CSC cohort with routine AI-assisted imaging compared with the low-volume PSC (11 vs. 48 min, p < 0.01). The median maximal potential reduction in door-in-door-out (DIDO) time was estimated at 30 min [interquartile range (IQR) 4-45). In contrast, 4.6% (95% CI 2.0-10.3) individuals were reclassified as ineligible due to extensive early ischemic changes and poor collaterals, potentially avoiding futile transfer.

Conclusions: Artificial intelligence-assisted imaging may significantly improve transfer decisions and workflow efficiency in low-volume PSCs, particularly in settings without real-time radiological interpretation. Its broader adoption may strengthen MT eligibility assessment within regional stroke networks.

简介:评估基于人工智能(AI)的成像软件在支持从小容量原发性卒中中心(PSCs)转介的急性缺血性卒中(AIS)患者机械取栓(MT)转移决策方面的潜在益处。该研究的临床基础:许多符合mt条件的患者最初在psc进行治疗,这些psc通常缺乏先进的成像能力、卒中成像专业知识和有效的医院间图像传输系统。基于人工智能的自动大血管闭塞(LVO)检测工具在改善脑卒中工作流程指标方面显示出有希望的结果,但来自小容量psc的数据仍然有限。材料和方法:本研究对波兰5个小容量psc(≤1个/中心/月)的109例AIS患者进行了53个月的前循环LVO MT转移的多中心回顾性分析。使用Brainomix 360 (Brainomix USA Inc., Chicago, USA)对标准影像进行回顾性评估,以评估早期缺血改变、侧支状态和LVO位置。两位盲眼血管神经科医生独立模拟了基于后处理成像的转移决策。分析大血管闭塞检测的敏感性和转移资格的潜在变化。将工作流程时间参数与常规人工智能辅助评估的综合卒中中心(CSC)队列进行比较(n = 69)。对人工智能实现的最大预期时间效益进行了估计。结果:基于人工智能的前循环LVO检测灵敏度为83.5%[95%可信区间(CI) 76.5-90.5], M1明显高于颈内动脉(ICA)闭塞(95.2%比63.9%,p < 0.01)。在纳入的患者中,78.9% (95% CI 70.3-85.5)被模拟为符合条件,并且可能从更短的工作流程时间中获益。与小容量PSC相比,CSC队列中常规人工智能辅助成像的计算机断层血管造影(CTA)到血管内治疗(EVT)通知时间明显缩短(11分钟vs 48分钟,p < 0.01),也支持了这一点。门-内-门-外(DIDO)时间的最大电位减少中位数估计为30分钟[四分位数范围(IQR) 4-45]。相反,4.6% (95% CI 2.0-10.3)的个体由于早期广泛的缺血改变和不良的抵押品而被重新分类为不合格,这可能避免了无效的转移。结论:人工智能辅助成像可以显著提高小容量psc的转运决策和工作效率,特别是在没有实时放射学解释的情况下。它的广泛采用可能会加强区域中风网络内MT资格评估。
{"title":"Artificial intelligence-based software to support mechanical thrombectomy transfer decision in low-volume primary stroke centers: a multicenter, retrospective study.","authors":"Marcin Wiącek, Katarzyna Koszarska, Aleksandra Kotlińska, Katarzyna Wąchała, Sylwia Lepak, Katarzyna Jucha, Rafał Kaczorowski, Halina Bartosik-Psujek","doi":"10.5603/pjnns.106121","DOIUrl":"https://doi.org/10.5603/pjnns.106121","url":null,"abstract":"<p><strong>Introduction: </strong>To assess the potential benefit of artificial intelligence (AI) based imaging software in supporting mechanical thrombectomy (MT) transfer decisions in patients with acute ischemic stroke (AIS) referred from low-volume primary stroke centers (PSCs).</p><p><strong>Clinical rationale for the study: </strong>Many MT-eligible patients are initially managed in PSCs, which often lack advanced imaging capabilities, stroke imaging expertise, and efficient interhospital image transfer systems. Artificial intelligence-based tools for automated large vessel occlusion (LVO) detection have shown promising results in improving stroke workflow metrics, yet data from low-volume PSCs remain limited.</p><p><strong>Material and methods: </strong>This study presents a multicenter, retrospective analysis of 109 AIS patients transferred for anterior circulation LVO MT from five low-volume PSCs in Poland over a 53-month period (≤ 1 MT transfer/center/month). Standard imaging was retrospectively assessed using Brainomix 360 (Brainomix USA Inc., Chicago, USA) to assess early ischemic changes, collateral status, and LVO location. Two blinded vascular neurologists independently simulated transfer decisions based on post-processed imaging. Large vessel occlusion detection sensitivity and potential changes in transfer eligibility were analyzed. The workflow time parameters were compared to the comprehensive stroke center (CSC) cohort with a routine AI-assisted evaluation (n = 69). The maximal expected time benefit from AI implementation was also estimated.</p><p><strong>Results: </strong>Artificial intelligence-based sensitivity for anterior circulation LVO detection was 83.5% [95% confidence interval (CI) 76.5-90.5], significantly higher for M1 than for internal carotid artery (ICA) occlusions (95.2% vs. 63.9%, p < 0.01). Among included patients, 78.9% (95% CI 70.3-85.5) were simulated as eligible and could potentially benefit from shorter workflow times. This is supported by the significantly shorter computed tomography angiography (CTA) to endovascular treatment (EVT) notification time in the CSC cohort with routine AI-assisted imaging compared with the low-volume PSC (11 vs. 48 min, p < 0.01). The median maximal potential reduction in door-in-door-out (DIDO) time was estimated at 30 min [interquartile range (IQR) 4-45). In contrast, 4.6% (95% CI 2.0-10.3) individuals were reclassified as ineligible due to extensive early ischemic changes and poor collaterals, potentially avoiding futile transfer.</p><p><strong>Conclusions: </strong>Artificial intelligence-assisted imaging may significantly improve transfer decisions and workflow efficiency in low-volume PSCs, particularly in settings without real-time radiological interpretation. Its broader adoption may strengthen MT eligibility assessment within regional stroke networks.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146019120","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
Successful mechanical thrombectomy for massive cerebral venous sinus thrombosis. 机械取栓术成功治疗大面积脑静脉窦血栓形成。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-16 DOI: 10.5603/pjnns.108559
Milena Polewka, Aleksandra Krzan-Bosaczyk, Michał Borończyk, Witold Tomalski, Łukasz Binek, Anetta Lasek-Bal
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引用次数: 0
Degree and pattern of atrophy in multiple sclerosis - a systematic review. 多发性硬化症中萎缩的程度和模式——一项系统综述。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-09 DOI: 10.5603/pjnns.106103
Aleksandra Pogoda-Wesołowska, Jakub Brzostowski, Maria Wieczorek, Stanisław Kisiel, Antonina Jarzębowska, Milena Sucharska, Jacek Staszewski, Adam Stępień

Introduction: Prior research regarding multiple sclerosis (MS) has extensively examined the inflammatory processes, while the mechanisms of neurodegeneration, particularly cerebral atrophy, remain less understood. The purpose of this systematic review was to summarize the current knowledge about the degree and pattern of atrophy in various types of MS, and its relationship with the clinical progression of the disease and the impact of treatment on brain volume loss.

Material and methods: A systematic review was performed in accordance with the PRISMA guidelines. Relevant articles published between 1 January 2018 and 1 July 2024 available in the PubMed and Cochrane Library databases were obtained using a systematic search strategy. The following keywords were used to screen the publications: 'multiple sclerosis' and/or 'MS' and 'atrophy'. The eligibility criteria that identified and described outcomes were pre-established by the authors. Studies constituting clinical research protocols, theoretical inspections, articles describing other measurement methods or comparing measuring methods, conference abstracts and articles in a language other than English were excluded.

Results: Of the 1,911 records obtained from the systematic search based on keywords, 26 were included in the final review. Publications enabled the analysis of atrophy in patients compared to the healthy population, the evaluation of atrophy concerning different MS subtypes, its correlation with disability progression, the patterns of atrophy and the impact of disease-modifying therapies. Moreover, clinical trials involving atrophy measurements in MS patients were also collected.

Discussion: This systematic review confirmed the role of assessing volumetric changes in brain regions as a useful tool in the diagnosis of MS, assessment of its progression, and response to treatment. Given the relatively small number of new reports in the last six years, it also indicated the need for further research, especially using atrophy to assess the efficacy of therapy.

先前关于多发性硬化症(MS)的研究已经广泛地研究了炎症过程,而神经变性,特别是脑萎缩的机制仍然知之甚少。本系统综述的目的是总结目前对各种类型MS的萎缩程度和模式的了解,以及其与疾病临床进展的关系以及治疗对脑容量损失的影响。材料和方法:按照PRISMA指南进行系统评价。2018年1月1日至2024年7月1日在PubMed和Cochrane图书馆数据库中发表的相关文章使用系统搜索策略获得。以下关键词用于筛选出版物:“多发性硬化症”和/或“多发性硬化症”和“萎缩”。确定和描述结果的资格标准是由作者预先建立的。包括临床研究方案、理论检验、描述其他测量方法或比较测量方法的文章、会议摘要和非英语语言的文章均被排除在外。结果:在基于关键词的系统检索中获得的1,911条记录中,有26条被纳入最终评审。发表的文章能够分析患者与健康人群的萎缩,评估不同MS亚型的萎缩,其与残疾进展的相关性,萎缩的模式和疾病改善疗法的影响。此外,还收集了涉及MS患者萎缩测量的临床试验。讨论:本系统综述证实了评估脑区体积变化作为MS诊断、评估其进展和治疗反应的有用工具的作用。鉴于在过去六年中相对较少的新报告,这也表明需要进一步研究,特别是使用萎缩来评估治疗效果。
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引用次数: 0
Cerebrospinal fluid fistula following dopamine agonist therapy in giant prolactinomas: A case series and review of the literature. 巨催乳素瘤多巴胺激动剂治疗后的脑脊液瘘:一个病例系列和文献回顾。
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-12-11 DOI: 10.5603/pjnns.107751
Oguz Altunyuva, Ali Imran Ozmarasali, Oguzhan Eker, Pinar Eser, Ozen Oz Gul, Selcuk Yilmazlar

Aim of the study: We aimed to analyze cases of cerebrospinal fluid (CSF) rhinorrhea/fistula emerging after dopamine agonist (DA) therapy in patients with giant prolactinomas, and to identify clinical patterns and treatment strategies. We also sought to contextualize our findings through a systematic review of published cases.

Clinical rationale for the study: Dopamine agonist therapy is first line for prolactinomas; however, in invasive macroadenomas, rapid shrinkage may unmask skull base defects, leading to CSF leaks and infections like meningitis. These rare but critical events lack standard treatment protocols.

Material and methods: We reviewed six prolactinoma cases with post-cabergoline CSF rhinorrhea (2010-2024) and conducted a PubMed-based review (1980-2024) to compare clinical and treatment features.

Results: In our series (mean age: 49.3 years) CSF rhinorrhea developed between 14 and 420 days after therapy initiation. The sellar floor was the most frequent defect site (5 of 6 patients). All patients required surgical or CSF diversion procedures, including transsphenoidal or transcranial repair, external ventricular drainage, lumbar drainage, or ventriculoperitoneal shunting. One case resulted in fatal meningitis. The literature review included 68 cases across 33 studies. The median time to CSF leak onset was 90 days (range: 7-1460 days). Surgical repair, particularly transsphenoidal, was the most common treatment. Recurrence occurred in 25/55 cases (45.5%) and meningitis in 6/59 cases (10.2%); outcome data were not available for all patients.

Conclusions and clinical implications: Skull base erosion and rapid tumor shrinkage are major contributors. Our findings support early recognition, dose titration of DA therapy, close radiological follow-up, and timely surgical intervention. Further studies are needed to define risk stratification and evidence-based treatment protocols.

研究目的:我们旨在分析巨大催乳素瘤患者在多巴胺激动剂(DA)治疗后出现的脑脊液(CSF)鼻漏/瘘管病例,并确定临床模式和治疗策略。我们还试图通过对已发表病例的系统回顾来将我们的发现置于背景中。临床研究理由:多巴胺激动剂是治疗催乳素瘤的一线药物;然而,在侵袭性大腺瘤中,快速收缩可能会暴露颅底缺陷,导致脑脊液泄漏和脑膜炎等感染。这些罕见但严重的事件缺乏标准的治疗方案。材料和方法:我们回顾了6例卡麦角林后脑脊液鼻漏的泌乳素瘤病例(2010-2024年),并进行了一项基于pubmed的回顾(1980-2024年),比较了临床和治疗特点。结果:在我们的研究中(平均年龄:49.3岁),脑脊液鼻漏发生在治疗开始后的14天至420天之间。鞍底是最常见的缺损部位(6例中有5例)。所有患者都需要手术或脑脊液分流手术,包括经蝶窦或经颅修复、脑室外引流、腰椎引流或脑室-腹膜分流。一个病例导致致命的脑膜炎。文献综述包括33项研究中的68例病例。脑脊液泄漏发生的中位时间为90天(范围:7-1460天)。手术修复,特别是经蝶窦,是最常见的治疗方法。复发25/55例(45.5%),脑膜炎6/59例(10.2%);并非所有患者的结局数据都可用。结论及临床意义:颅底糜烂及肿瘤迅速缩小是主要原因。我们的研究结果支持早期识别,剂量滴定治疗,密切的放射随访和及时的手术干预。需要进一步的研究来确定风险分层和循证治疗方案。
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引用次数: 0
Ophthalmic symptoms as biomarkers for prodromal and early Parkinson's disease: a scoping review. 眼科症状作为前驱和早期帕金森病的生物标志物:范围综述
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-12-09 DOI: 10.5603/pjnns.108151
Olga Łach-Wojnarowicz, Natalia Szejko, Vanessa Carvalho, Anna Siuda, Dariusz Dobrowolski, Edward Wylęgała, Katarzyna Śmiłowska

Introduction: Non-motor symptoms of Parkinson's disease (PD), particularly visual disturbances, often appear before a formal diagnosis and may serve as early signs or prodromal features of the disease. This review aims to evaluate ocular biomarkers associated with prodromal and early-stage PD, highlighting ophthalmic indicators that could support earlier diagnosis and aid in tracking disease progression.

Material and methods: PubMed and Scopus databases were systematically searched for all records available from their inception through May 2024, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement extension for Scoping Reviews (PRISMA-ScR) guidelines. Two distinct PICO (PICO stands for Population, Intervention, Control, Outcome) frameworks were employed to guide the selection criteria: one for people with early Parkinson's disease and another for individuals at risk of prodromal PD.

Results: 30 studies were included - 4 solely on prodromal cohorts (RBD), 18 on patients with PD and 8 studies with both prodromal and clinical cohorts. Studies of people with RBD have shown abnormalities in pupillary light reflex, eye movements, and color discrimination. People with early PD showed impaired contrast sensitivity, impaired color discrimination, retinal structural changes, including retinal thinning (in the inner nuclear layer and ganglion cell-inner plexiform layer, altered pupillary responses, visual hallucinations, and ocular movement disorders).

Conclusions: Impairment of both color and contrast vision, as well as changes in optical coherence tomography (OCT), correlate with disease severity and cognitive decline. They can serve as an early, safe, noninvasive biomarker of neurodegeneration.

帕金森氏病(PD)的非运动症状,特别是视觉障碍,经常在正式诊断之前出现,可能是该疾病的早期体征或前驱症状。本综述旨在评估与前驱和早期PD相关的眼部生物标志物,重点介绍可以支持早期诊断和帮助跟踪疾病进展的眼科指标。材料和方法:根据系统评价和荟萃分析声明扩展范围评价(PRISMA-ScR)指南,系统地检索PubMed和Scopus数据库从建立到2024年5月的所有可用记录。采用两种不同的PICO (PICO代表人群、干预、控制、结果)框架来指导选择标准:一种用于早期帕金森病患者,另一种用于有前驱帕金森病风险的个体。结果:纳入了30项研究- 4项单独针对前驱症状队列(RBD), 18项针对PD患者,8项同时针对前驱症状和临床队列的研究。对RBD患者的研究显示出瞳孔光反射、眼球运动和颜色辨别方面的异常。早期PD患者表现为对比敏感度受损,颜色辨别受损,视网膜结构改变,包括视网膜变薄(在内核层和神经节细胞-内丛状层,瞳孔反应改变,视觉幻觉和眼运动障碍)。结论:彩色视觉和对比视觉的损害以及光学相干断层扫描(OCT)的变化与疾病严重程度和认知能力下降有关。它们可以作为早期、安全、无创的神经变性生物标志物。
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引用次数: 0
SIGMAR1 gene-related neuromuscular disorders - what do we know? SIGMAR1基因相关的神经肌肉疾病——我们知道什么?
IF 2.6 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-12-03 DOI: 10.5603/pjnns.106304
Maciej Kalita, Maria Jędrzejowska, Anna Potulska-Chromik, Karolina Aragon-Gawińska, Maria Franaszczyk, Tomasz Stokłosa, Marta Lipowska, Anna Kostera-Pruszczyk

Introduction: Distal hereditary motor neuropathies (dHMNs) are a clinically and genetically diverse group of rare neuromuscular disorders characterized by progressive distal muscle weakness and atrophy, often with early onset and sparing of sensory function. One subtype, Jerash-type dHMN (dHMNJ), is caused by biallelic mutations in the SIGMAR1 gene and presents with pyramidal signs in addition to distal weakness.

Material and methods: A literature review was conducted by searches of the MEDLINE and PubMed databases using selected terms. Relevant original articles, case reports, case series, and reviews were selected as data sources.

Discussion: SIGMAR1-related disorders (SIGMAR1-RD) encompass a broad clinical spectrum including dHMN and juvenile amyotrophic lateral sclerosis (ALS) phenotypes. The Sigma-1 receptor plays a key role in cellular stress responses, ER-mitochondria interaction, and neuronal survival. Clinical presentation often includes distal muscle weakness and atrophy with pyramidal signs.

Pathogenic variant reported by authors: We present a 12-year-old boy with distal muscle weakness, foot drop, and pyramidal signs. Genetic testing identified a homozygous c.247T>C (p.Phe83Leu) SIGMAR1 variant, previously classified as a variant of uncertain significance (VUS).

Conclusion: This article supports the pathogenicity of the c.247T>C (p.Phe83Leu) SIGMAR1 variant and underlines the need for broader genetic testing in hereditary motor neuropathies.

远端遗传性运动神经病(dHMNs)是一种临床和遗传多样性的罕见神经肌肉疾病,其特征是进行性远端肌肉无力和萎缩,通常发病早,感觉功能保留。其中一种亚型,jerash型dHMN (dHMNJ),是由SIGMAR1基因的双等位基因突变引起的,除了远端虚弱外,还表现为锥体体征。材料和方法:使用选定的术语检索MEDLINE和PubMed数据库进行文献综述。选择相关的原创文章、病例报告、病例系列和综述作为数据来源。sigmar1相关疾病(SIGMAR1-RD)涵盖广泛的临床谱,包括dHMN和青少年肌萎缩侧索硬化症(ALS)表型。Sigma-1受体在细胞应激反应、er -线粒体相互作用和神经元存活中起关键作用。临床表现通常包括远端肌肉无力和萎缩,并伴有锥体征象。致病变异的作者报告:我们提出一个12岁的男孩远端肌肉无力,足下垂,锥体征象。基因检测鉴定出C . 247t >C (p.Phe83Leu) SIGMAR1纯合子变异,以前被归类为不确定意义变异(VUS)。结论:本文支持C . 247t >C (p.Phe83Leu) SIGMAR1变异的致病性,并强调在遗传性运动神经病变中进行更广泛的基因检测的必要性。
{"title":"SIGMAR1 gene-related neuromuscular disorders - what do we know?","authors":"Maciej Kalita, Maria Jędrzejowska, Anna Potulska-Chromik, Karolina Aragon-Gawińska, Maria Franaszczyk, Tomasz Stokłosa, Marta Lipowska, Anna Kostera-Pruszczyk","doi":"10.5603/pjnns.106304","DOIUrl":"https://doi.org/10.5603/pjnns.106304","url":null,"abstract":"<p><strong>Introduction: </strong>Distal hereditary motor neuropathies (dHMNs) are a clinically and genetically diverse group of rare neuromuscular disorders characterized by progressive distal muscle weakness and atrophy, often with early onset and sparing of sensory function. One subtype, Jerash-type dHMN (dHMNJ), is caused by biallelic mutations in the SIGMAR1 gene and presents with pyramidal signs in addition to distal weakness.</p><p><strong>Material and methods: </strong>A literature review was conducted by searches of the MEDLINE and PubMed databases using selected terms. Relevant original articles, case reports, case series, and reviews were selected as data sources.</p><p><strong>Discussion: </strong>SIGMAR1-related disorders (SIGMAR1-RD) encompass a broad clinical spectrum including dHMN and juvenile amyotrophic lateral sclerosis (ALS) phenotypes. The Sigma-1 receptor plays a key role in cellular stress responses, ER-mitochondria interaction, and neuronal survival. Clinical presentation often includes distal muscle weakness and atrophy with pyramidal signs.</p><p><strong>Pathogenic variant reported by authors: </strong>We present a 12-year-old boy with distal muscle weakness, foot drop, and pyramidal signs. Genetic testing identified a homozygous c.247T>C (p.Phe83Leu) SIGMAR1 variant, previously classified as a variant of uncertain significance (VUS).</p><p><strong>Conclusion: </strong>This article supports the pathogenicity of the c.247T>C (p.Phe83Leu) SIGMAR1 variant and underlines the need for broader genetic testing in hereditary motor neuropathies.</p>","PeriodicalId":19132,"journal":{"name":"Neurologia i neurochirurgia polska","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145669022","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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Neurologia i neurochirurgia polska
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