首页 > 最新文献

Acta Neurologica Scandinavica最新文献

英文 中文
Next-Generation Genetic Testing in the Diagnostics of Neurological Disease in Southwest Finland in 2010–2021: A Register-Based Study 2010-2021年芬兰西南部神经系统疾病诊断的下一代基因检测:一项基于登记的研究
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-23 DOI: 10.1155/ane/2203816
Saga Loukiainen, Maria K. Haanpää, Mika H. Martikainen

Neurological disorders are heterogeneous and sometimes challenging to diagnose. Next-generation sequencing (NGS) panels and exome sequencing methods are increasingly advocated as first-tier genetic investigations. In this retrospective, single-centre, register-based study, we investigated the use of NGS-based investigations in the diagnostics of adult neurological disease at Turku University Hospital (TUH) (Turku, Finland) during 2010–2021. We identified patients who underwent any genetic testing to investigate neurologic disease in 2010–2021. NGS gene panel studies and exome investigations were scrutinised further. Data were collected from the TUH electronic medical records. We identified N = 844 patients (347 men and 497 women) who fulfilled the initial inclusion criteria. In this group, 331 NGS panels and 99 exome analyses were performed. The median age at the time of the first included genetic test was 45 years (range: 16–96 years). The diagnostic rate was 19% for all NGS-based studies. Amongst different patient groups, the diagnostic yield was highest in developmental and intellectual disorders (39%), second highest in neuromuscular disorders (38%) and lower in epilepsy and ataxia (13% and 10%, respectively). Amongst neurological disorders, the diagnostic yield of genetic testing differs between different patient phenotypes and based on the genetic testing selection. Further studies are needed to determine optimal strategies, with the highest yield and lowest cost, for genetic investigations in neurological disorders.

神经系统疾病是多种多样的,有时很难诊断。下一代测序(NGS)面板和外显子组测序方法越来越被提倡作为一级遗传研究。在这项回顾性、单中心、基于登记的研究中,我们调查了2010-2021年图尔库大学医院(TUH)(芬兰图尔库)基于ngs的调查在成人神经系统疾病诊断中的使用情况。我们确定了在2010-2021年间接受任何基因检测以调查神经系统疾病的患者。NGS基因面板研究和外显子组调查进一步审查。数据收集自TUH电子病历。我们确定了符合初始纳入标准的N = 844例患者(347例男性和497例女性)。在该组中,进行了331个NGS面板和99个外显子组分析。首次纳入基因检测时的中位年龄为45岁(范围:16-96岁)。所有基于ngs的研究的诊断率为19%。在不同的患者群体中,发育和智力障碍的诊断率最高(39%),神经肌肉疾病的诊断率第二高(38%),癫痫和共济失调的诊断率较低(分别为13%和10%)。在神经系统疾病中,基因检测的诊断率在不同的患者表型和基于基因检测选择之间存在差异。需要进一步的研究来确定最佳策略,以最高的产量和最低的成本,用于神经系统疾病的遗传调查。
{"title":"Next-Generation Genetic Testing in the Diagnostics of Neurological Disease in Southwest Finland in 2010–2021: A Register-Based Study","authors":"Saga Loukiainen,&nbsp;Maria K. Haanpää,&nbsp;Mika H. Martikainen","doi":"10.1155/ane/2203816","DOIUrl":"https://doi.org/10.1155/ane/2203816","url":null,"abstract":"<p>Neurological disorders are heterogeneous and sometimes challenging to diagnose. Next-generation sequencing (NGS) panels and exome sequencing methods are increasingly advocated as first-tier genetic investigations. In this retrospective, single-centre, register-based study, we investigated the use of NGS-based investigations in the diagnostics of adult neurological disease at Turku University Hospital (TUH) (Turku, Finland) during 2010–2021. We identified patients who underwent any genetic testing to investigate neurologic disease in 2010–2021. NGS gene panel studies and exome investigations were scrutinised further. Data were collected from the TUH electronic medical records. We identified <i>N</i> = 844 patients (347 men and 497 women) who fulfilled the initial inclusion criteria. In this group, 331 NGS panels and 99 exome analyses were performed. The median age at the time of the first included genetic test was 45 years (range: 16–96 years). The diagnostic rate was 19% for all NGS-based studies. Amongst different patient groups, the diagnostic yield was highest in developmental and intellectual disorders (39%), second highest in neuromuscular disorders (38%) and lower in epilepsy and ataxia (13% and 10%, respectively). Amongst neurological disorders, the diagnostic yield of genetic testing differs between different patient phenotypes and based on the genetic testing selection. Further studies are needed to determine optimal strategies, with the highest yield and lowest cost, for genetic investigations in neurological disorders.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2026 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/2203816","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147299968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of Low-Intensity Ultrasound on Amyloid-β Clearance in Early-Stage Alzheimer′s Disease: A Potential Role of Glymphatic Activity 低强度超声对早期阿尔茨海默病中淀粉样蛋白-β清除的影响:淋巴活性的潜在作用
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-18 DOI: 10.1155/ane/1538313
Sang Won Jo, Bo-yong Park, Roh-Eul Yoo, Seung Hong Choi, Sooyeon Ji, Tae Young Park, Hyungmin Kim, Seongbeom Park, Min Seung Kim, Suk Yun Kang, Soo-Jin Cho, Won-Jin Moon, SangYun Kim, Jaeho Kim

Objective

Alzheimer′s disease (AD) involves impaired clearance of metabolic waste, including amyloid-β, potentially related to glymphatic dysfunction. Low-intensity ultrasound (LIUS) may facilitate solute clearance in the brain. This pilot study examined whether LIUS affects amyloid-β deposition and cognitive performance in early-stage AD, and whether MRI-derived changes in putative glymphatic activity could represent a possible underlying mechanism.

Methods

This prospective pilot study (September 2022–February 2023) enrolled 10 amyloid-positive participants who underwent 4 weeks of LIUS treatment, including five apolipoprotein E4 (APOE4) carriers and five noncarriers. LIUS treatment involved sessions over 4 weeks. Magnetic resonance imaging (MRI) and amyloid PET scans were used to quantitatively analyze glymphatic activity, blood–brain barrier (BBB) integrity, microbleed occurrence, and amyloid deposition changes. Cognitive changes were assessed using neuropsychological tests.

Results

All participants completed treatment without any significant adverse events. Neuropsychological testing demonstrated cognitive function improvements. Amyloid-β deposition decreased mainly in APOE4 carriers following LIUS. In addition, post-LIUS, the cerebral cortex showed increased putative glymphatic activity, although statistical significance was not maintained after multiple-comparison correction. No significant changes were observed in BBB integrity, microbleed occurrence, or brain volume.

Conclusion

LIUS was safe and demonstrated both cognitive improvement and reduced amyloid deposition in early-stage AD. These effects may reflect several biological actions of LIUS, including the possibility of glymphatic enhancement. Further studies with larger cohorts and appropriate control groups are warranted to confirm these findings and draw more definitive conclusions.

Trial Registration

Clinicaltrial.gov identifier: NCT05633095

目的阿尔茨海默病(AD)涉及代谢废物(包括淀粉样蛋白-β)的清除受损,可能与淋巴功能障碍有关。低强度超声(LIUS)可以促进脑内溶质的清除。这项初步研究探讨了LIUS是否会影响早期AD患者的淀粉样蛋白-β沉积和认知能力,以及mri引起的假定的淋巴活性变化是否可能是潜在的机制。这项前瞻性先导研究(2022年9月至2023年2月)招募了10名淀粉样蛋白阳性的参与者,他们接受了4周的LIUS治疗,其中包括5名载脂蛋白E4 (APOE4)携带者和5名非携带者。LIUS治疗包括4周以上的疗程。采用磁共振成像(MRI)和淀粉样蛋白PET扫描定量分析淋巴活性、血脑屏障(BBB)完整性、微出血发生率和淀粉样蛋白沉积变化。使用神经心理学测试评估认知变化。结果所有受试者均完成治疗,无明显不良事件发生。神经心理测试显示认知功能有所改善。淀粉样蛋白-β沉积主要在APOE4携带者中减少。此外,lius后,大脑皮层显示假定的淋巴活性增加,尽管多次比较校正后没有保持统计学意义。在血脑屏障完整性、微出血发生率或脑容量方面未观察到显著变化。结论LIUS是一种安全的治疗方法,可改善早期AD患者的认知功能,减少淀粉样蛋白沉积。这些作用可能反映了LIUS的一些生物学作用,包括增强淋巴细胞的可能性。有必要对更大的队列和适当的对照组进行进一步的研究,以证实这些发现并得出更明确的结论。临床试验注册。gov识别码:NCT05633095
{"title":"Effects of Low-Intensity Ultrasound on Amyloid-β Clearance in Early-Stage Alzheimer′s Disease: A Potential Role of Glymphatic Activity","authors":"Sang Won Jo,&nbsp;Bo-yong Park,&nbsp;Roh-Eul Yoo,&nbsp;Seung Hong Choi,&nbsp;Sooyeon Ji,&nbsp;Tae Young Park,&nbsp;Hyungmin Kim,&nbsp;Seongbeom Park,&nbsp;Min Seung Kim,&nbsp;Suk Yun Kang,&nbsp;Soo-Jin Cho,&nbsp;Won-Jin Moon,&nbsp;SangYun Kim,&nbsp;Jaeho Kim","doi":"10.1155/ane/1538313","DOIUrl":"https://doi.org/10.1155/ane/1538313","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Alzheimer′s disease (AD) involves impaired clearance of metabolic waste, including amyloid-<i>β</i>, potentially related to glymphatic dysfunction. Low-intensity ultrasound (LIUS) may facilitate solute clearance in the brain. This pilot study examined whether LIUS affects amyloid-<i>β</i> deposition and cognitive performance in early-stage AD, and whether MRI-derived changes in putative glymphatic activity could represent a possible underlying mechanism.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This prospective pilot study (September 2022–February 2023) enrolled 10 amyloid-positive participants who underwent 4 weeks of LIUS treatment, including five apolipoprotein E4 (APOE4) carriers and five noncarriers. LIUS treatment involved sessions over 4 weeks. Magnetic resonance imaging (MRI) and amyloid PET scans were used to quantitatively analyze glymphatic activity, blood–brain barrier (BBB) integrity, microbleed occurrence, and amyloid deposition changes. Cognitive changes were assessed using neuropsychological tests.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All participants completed treatment without any significant adverse events. Neuropsychological testing demonstrated cognitive function improvements. Amyloid-<i>β</i> deposition decreased mainly in APOE4 carriers following LIUS. In addition, post-LIUS, the cerebral cortex showed increased putative glymphatic activity, although statistical significance was not maintained after multiple-comparison correction. No significant changes were observed in BBB integrity, microbleed occurrence, or brain volume.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>LIUS was safe and demonstrated both cognitive improvement and reduced amyloid deposition in early-stage AD. These effects may reflect several biological actions of LIUS, including the possibility of glymphatic enhancement. Further studies with larger cohorts and appropriate control groups are warranted to confirm these findings and draw more definitive conclusions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Trial Registration</h3>\u0000 \u0000 <p>Clinicaltrial.gov identifier: NCT05633095</p>\u0000 </section>\u0000 </div>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2026 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/1538313","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147315586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sensitivity and Specificity of Atropine Injection for Testing for Irreversible Loss of Brain Function: Experiences From 394 Examinations 阿托品注射液检测不可逆性脑功能丧失的敏感性和特异性:来自394例检查的经验
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-15 DOI: 10.1155/ane/2583072
Frank Logemann, Carl D. Reimers

Objectives

Testing for brain death/death by neurologic criteria includes proof of irreversible loss of all brain functions. Intravenously administered atropine can serve as a complementary clinical test. This study determines the cut-off value, sensitivity, and specificity of the atropine test and examines implications for the safety of existing scientific guidelines.

Methods

A prospective multicenter observational study included patients who received atropine (2 mg intravenously) as part of an investigation for brain death/death by neurologic criteria. Data from brain death/death by neurologic criteria protocols, vital signs records, and diagnostic reports were collected in order to calculate the sensitivity and specificity of the atropine test per se and in comparison to the standard tests.

Results

The study included 394 examinations in 257 patients (51.6 years, SD 16.3 years, 123 men, and 134 women) with suspected brain death/death by neurologic criteria.

In brain-dead patients, there was no increase in heart rate above 10 bpm (i.e., specificity of 100% of a positive atropine test > 10 bpm). Although of low sensitivity (17%) in proving residual brain function, the atropine test is twice as sensitive in revealing remaining brain functions as mandatory clinical tests (corneal, cough, and pupillary reflex p < 0.05, apnea test and unresponsiveness to pain p < 0.10).

Conclusion

A cut-off value of 10 bpm achieves very good specificity, but only low sensitivity. However, the sensitivity of the atropine test was more than twice as high as that of all mandatory tests. Therefore, we suggest considering the simple atropine test in brain death/death by neurologic criteria diagnostics at least where brain perfusion investigations are not used.

目的根据神经学标准对脑死亡/死亡的检测包括证明所有脑功能不可逆转的丧失。静脉注射阿托品可作为补充临床试验。本研究确定了阿托品试验的临界值、敏感性和特异性,并检查了现有科学指南的安全性。方法一项前瞻性多中心观察性研究纳入了接受阿托品(静脉注射2mg)治疗的患者,作为神经学标准脑死亡/死亡调查的一部分。收集脑死亡/死亡的神经学标准协议、生命体征记录和诊断报告的数据,以计算阿托品试验本身的敏感性和特异性,并与标准试验进行比较。结果该研究纳入了257例(51.6岁,SD 16.3岁,123名男性,134名女性)疑似脑死亡/神经学标准死亡的患者的394项检查。在脑死亡患者中,心率没有高于10bpm的增加(即阿托品试验阳性的100%特异性为10bpm)。虽然阿托品试验在检测残余脑功能方面的灵敏度较低(17%),但在检测残余脑功能方面,阿托品试验的灵敏度是强制性临床试验(角膜、咳嗽和瞳孔反射p <; 0.05,呼吸暂停试验和对疼痛无反应p <; 0.10)的两倍。结论截断值10bpm具有很好的特异性,但敏感性较低。然而,阿托品试验的灵敏度是所有强制性试验的两倍多。因此,我们建议至少在不使用脑灌注检查的情况下,考虑用简单的阿托品试验进行脑死亡/死亡的神经学标准诊断。
{"title":"Sensitivity and Specificity of Atropine Injection for Testing for Irreversible Loss of Brain Function: Experiences From 394 Examinations","authors":"Frank Logemann,&nbsp;Carl D. Reimers","doi":"10.1155/ane/2583072","DOIUrl":"https://doi.org/10.1155/ane/2583072","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Testing for brain death/death by neurologic criteria includes proof of irreversible loss of all brain functions. Intravenously administered atropine can serve as a complementary clinical test. This study determines the cut-off value, sensitivity, and specificity of the atropine test and examines implications for the safety of existing scientific guidelines.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A prospective multicenter observational study included patients who received atropine (2 mg intravenously) as part of an investigation for brain death/death by neurologic criteria. Data from brain death/death by neurologic criteria protocols, vital signs records, and diagnostic reports were collected in order to calculate the sensitivity and specificity of the atropine test per se and in comparison to the standard tests.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study included 394 examinations in 257 patients (51.6 years, SD 16.3 years, 123 men, and 134 women) with suspected brain death/death by neurologic criteria.</p>\u0000 \u0000 <p>In brain-dead patients, there was no increase in heart rate above 10 bpm (i.e., specificity of 100% of a positive atropine test &gt; 10 bpm). Although of low sensitivity (17%) in proving residual brain function, the atropine test is twice as sensitive in revealing remaining brain functions as mandatory clinical tests (corneal, cough, and pupillary reflex <i>p</i> &lt; 0.05, apnea test and unresponsiveness to pain <i>p</i> &lt; 0.10).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>A cut-off value of 10 bpm achieves very good specificity, but only low sensitivity. However, the sensitivity of the atropine test was more than twice as high as that of all mandatory tests. Therefore, we suggest considering the simple atropine test in brain death/death by neurologic criteria diagnostics at least where brain perfusion investigations are not used.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2026 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/2583072","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146256419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Stroke Code Transports by Emergency Medical Services: Positive Predictive Value and Therapeutic Decisions in a Large Finnish Province 急诊医疗服务传递中风代码:芬兰一个大省的积极预测价值和治疗决策
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-06 DOI: 10.1155/ane/9677875
Kristina Wikman, Tuukka Puolakka, Silja Räty, Markku Kuisma, Daniel Strbian

Background and Aims

Precise prehospital identification of cerebrovascular diseases (CVD) is essential for timely decisions concerning recanalization therapy for acute ischemic stroke (IS). This study described the stroke chain by analyzing patients transported by emergency medical services (EMS) with a stroke code, focusing on the EMS process regarding both CVD recognition and final recanalization decisions.

Methods

This retrospective, population-based, observational study analyzed all consecutive patients transported by EMS with suspected acute CVD in the Helsinki University Hospital service area during a 4-month period, irrespective of transport priority or receiving hospital. Prehospital and hospital patient records were combined, and the cohort was cross-checked with the database of given recanalization therapies. Sex-related and regional differences were assessed.

Results

Out of 1411 transports, 702 (50%) CVD diagnoses were identified. Of 521 high-priority transports, 317 (61%) received a CVD diagnosis and 98 (19%) recanalization therapy. Any recanalization therapy was given to 97/415 (23%) IS patients and to 91/211 (43%) IS patients transported with high priority. There were no significant sex-related or regional differences concerning diagnostic accuracy or treatment decisions. Altogether, 92% of the EMS transports ultimately leading to recanalization therapy were assigned high-priority stroke code.

Conclusions

The Finnish EMS system seems relatively accurate in identifying cerebrovascular disease; of all stroke-code transports, every second patient received a CVD diagnosis. Of the high-priority transports, 19% led to recanalization decisions. We observed no signs of gender or regional inequity. Most patients who received recanalization therapy were correctly identified by the EMS and transported with high priority, but this inevitably came at the expense of specificity.

背景与目的院前准确识别脑血管疾病(CVD)对急性缺血性脑卒中(is)再通治疗的及时决策至关重要。本研究通过分析带有卒中代码的紧急医疗服务(EMS)运送的患者来描述卒中链,重点关注EMS过程中心血管疾病识别和最终再通决策。方法:这项回顾性、基于人群的观察性研究分析了赫尔辛基大学医院服务区4个月内所有经EMS转运的疑似急性心血管疾病患者,不论转运优先顺序或接收医院。合并院前和住院患者记录,并与给予再通治疗的数据库交叉核对队列。评估了与性别相关的差异和地区差异。结果1411例转运者中,有702例(50%)被诊断为CVD。在521例高优先级转运中,317例(61%)接受了CVD诊断,98例(19%)接受了再通治疗。对97/415 (23%)IS患者和91/211(43%)优先转运的IS患者给予再通治疗。在诊断准确性或治疗决定方面,没有显著的性别或地区差异。总的来说,92%最终导致再通治疗的EMS转运被分配为高优先级卒中代码。结论芬兰EMS系统对脑血管疾病的诊断相对准确;在所有卒中编码转运中,每两名患者中就有一名被诊断为心血管疾病。在高优先级的传输中,19%导致了再通决策。我们没有观察到性别或地区不平等的迹象。大多数接受再通治疗的患者被EMS正确识别并优先转运,但这不可避免地以牺牲特异性为代价。
{"title":"Stroke Code Transports by Emergency Medical Services: Positive Predictive Value and Therapeutic Decisions in a Large Finnish Province","authors":"Kristina Wikman,&nbsp;Tuukka Puolakka,&nbsp;Silja Räty,&nbsp;Markku Kuisma,&nbsp;Daniel Strbian","doi":"10.1155/ane/9677875","DOIUrl":"https://doi.org/10.1155/ane/9677875","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Aims</h3>\u0000 \u0000 <p>Precise prehospital identification of cerebrovascular diseases (CVD) is essential for timely decisions concerning recanalization therapy for acute ischemic stroke (IS). This study described the stroke chain by analyzing patients transported by emergency medical services (EMS) with a stroke code, focusing on the EMS process regarding both CVD recognition and final recanalization decisions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective, population-based, observational study analyzed all consecutive patients transported by EMS with suspected acute CVD in the Helsinki University Hospital service area during a 4-month period, irrespective of transport priority or receiving hospital. Prehospital and hospital patient records were combined, and the cohort was cross-checked with the database of given recanalization therapies. Sex-related and regional differences were assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Out of 1411 transports, 702 (50%) CVD diagnoses were identified. Of 521 high-priority transports, 317 (61%) received a CVD diagnosis and 98 (19%) recanalization therapy. Any recanalization therapy was given to 97/415 (23%) IS patients and to 91/211 (43%) IS patients transported with high priority. There were no significant sex-related or regional differences concerning diagnostic accuracy or treatment decisions. Altogether, 92% of the EMS transports ultimately leading to recanalization therapy were assigned high-priority stroke code.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The Finnish EMS system seems relatively accurate in identifying cerebrovascular disease; of all stroke-code transports, every second patient received a CVD diagnosis. Of the high-priority transports, 19% led to recanalization decisions. We observed no signs of gender or regional inequity. Most patients who received recanalization therapy were correctly identified by the EMS and transported with high priority, but this inevitably came at the expense of specificity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2026 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/9677875","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146680335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Overview and Research Trends on Cluster Headache Disease: A Bibliometric and Natural Language Processing Approach 丛集性头痛疾病综述与研究趋势:文献计量学与自然语言处理方法
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-02-06 DOI: 10.1155/ane/5110463
Mohsen Hoseinnezhad, Mahdiyeh Khazaneha, Hamide Arvan, Mansoureh Togha

Background

This study presents a comprehensive analysis of the trends and challenges in cluster headache research from 1936 to 2022, highlighting the increasing study trend and the significant contributions from the United States, Italy, and England. The study identifies the most important journals, productive authors, and centers in the field, shedding light on the defects and challenges in pathophysiology, genetics, diagnosis, treatment, and study methods of cluster headaches.

Methods

Utilizing a bibliometric approach, the study examines the thematic and conceptual structural map, identifying key areas of focus in the pathophysiology, genetics, and neuroimaging studies of cluster headaches. The study also delves into the treatment phases and guidelines for cluster headaches, emphasizing the need for evidence-based and physiopathology-based treatment approaches.

Results

The findings highlight the genetic and neuroimaging research gaps, the role of the hypothalamus, and the morphological alterations in the brain associated with cluster headaches. The study also discusses the limitations and challenges in the research and treatment of cluster headaches, emphasizing the need for improved clinical trial methodologies and treatment efficacy.

Conclusion

The study concludes by underscoring the critical need for further research to address the limitations and challenges in understanding the pathophysiology, improving treatment efficacy, and enhancing the quality of life for individuals with cluster headaches. The study recommends future research with a comprehensive perspective to address the complexities and insufficiencies in the current understanding and treatment of cluster headaches.

本研究综合分析了1936年至2022年丛集性头痛研究的趋势和挑战,强调了研究的增加趋势以及美国、意大利和英国的重要贡献。该研究确定了该领域最重要的期刊、最有成效的作者和研究中心,揭示了丛集性头痛在病理生理学、遗传学、诊断、治疗和研究方法方面的缺陷和挑战。方法利用文献计量学方法,研究了主题和概念结构图,确定了丛集性头痛的病理生理学、遗传学和神经影像学研究的重点领域。该研究还深入探讨了丛集性头痛的治疗阶段和指南,强调需要循证和基于生理病理的治疗方法。结果这些发现突出了遗传和神经影像学研究的空白,下丘脑的作用,以及与丛集性头痛相关的大脑形态学改变。本研究还讨论了丛集性头痛研究和治疗的局限性和挑战,强调需要改进临床试验方法和治疗效果。结论本研究强调了在理解丛集性头痛患者的病理生理、提高治疗效果和提高生活质量方面需要进一步研究以解决局限性和挑战。该研究建议未来的研究以全面的角度来解决目前对丛集性头痛的理解和治疗的复杂性和不足。
{"title":"Overview and Research Trends on Cluster Headache Disease: A Bibliometric and Natural Language Processing Approach","authors":"Mohsen Hoseinnezhad,&nbsp;Mahdiyeh Khazaneha,&nbsp;Hamide Arvan,&nbsp;Mansoureh Togha","doi":"10.1155/ane/5110463","DOIUrl":"https://doi.org/10.1155/ane/5110463","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study presents a comprehensive analysis of the trends and challenges in cluster headache research from 1936 to 2022, highlighting the increasing study trend and the significant contributions from the United States, Italy, and England. The study identifies the most important journals, productive authors, and centers in the field, shedding light on the defects and challenges in pathophysiology, genetics, diagnosis, treatment, and study methods of cluster headaches.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Utilizing a bibliometric approach, the study examines the thematic and conceptual structural map, identifying key areas of focus in the pathophysiology, genetics, and neuroimaging studies of cluster headaches. The study also delves into the treatment phases and guidelines for cluster headaches, emphasizing the need for evidence-based and physiopathology-based treatment approaches.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The findings highlight the genetic and neuroimaging research gaps, the role of the hypothalamus, and the morphological alterations in the brain associated with cluster headaches. The study also discusses the limitations and challenges in the research and treatment of cluster headaches, emphasizing the need for improved clinical trial methodologies and treatment efficacy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The study concludes by underscoring the critical need for further research to address the limitations and challenges in understanding the pathophysiology, improving treatment efficacy, and enhancing the quality of life for individuals with cluster headaches. The study recommends future research with a comprehensive perspective to address the complexities and insufficiencies in the current understanding and treatment of cluster headaches.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2026 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/5110463","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146680327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction to “Diagnostic Panel of Three Genetic Biomarkers Based on Artificial Neural Network for Patients With Idiopathic Generalized Epilepsy” 对“基于人工神经网络的三种遗传生物标志物诊断特发性全面性癫痫”的修正
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-31 DOI: 10.1155/ane/9843676

A. Y. Tak, N. Tak, A. Bayrakoglu, et al., “Diagnostic Panel of Three Genetic Biomarkers Based on Artificial Neural Network for Patients With Idiopathic Generalized Epilepsy,” Acta Neurologica Scandinavica, 2024 (2024): 8853018, https://doi.org/10.1155/2024/8853018.

In the article, Alisan Bayrakoglu, Seda Susgun, and Ceyhun Toruntay were mistakenly omitted from the author list. The updated author list and affiliations are shown below and have been corrected in the article.

Ayşegül Yabacı Tak1, Nihat Tak2, Alisan Bayrakoglu3, Seda Susgun4, Ceyhun Toruntay5, Ferda Ilgen Uslu3, Emrah Yucesan6

1. Bezmialem Vakıf University, Faculty of Medicine, Department of Biostatistics and Medical Informatics, Istanbul, Türkiye

2. Marmara University, Faculty of Science, Department of Statistics, Istanbul, Türkiye

3. Bezmialem Vakıf University, Faculty of Medicine, Department of Neurology, Istanbul, Türkiye

4. Bezmialem Vakıf University, Faculty of Medicine, Department of Medical Biology, Istanbul, Türkiye

5. Istanbul Technical University, Faculty of Science and Letters, Department of Molecular Biology and Genetics, Istanbul, Türkiye

6. Istanbul Cerrahpaşa University, Institute of Neurological Sciences, Department of Neurogenetics, Istanbul, Türkiye

The author contributions are as follows:

Conceptualization: A.Y.T. and E.Y. Methodology: A.Y.T. and E.Y. Data curation: A.Y.T., N.T., S.S., C.T., F.I.U., and A.B. Formal analysis: A.Y.T. and N.T. Writing—original draft: A.Y.T., E.Y., and N.T. Writing—review and editing: A.Y.T., E.Y., and N.T. Visualization: A.Y.T. Supervision: A.Y.T.

We apologize for this error.

A. Y. Tak, N. Tak, A. Bayrakoglu等,“基于人工神经网络的特发性广泛性癫痫患者的三种遗传生物标志物诊断小组”,斯堪的纳维亚神经学报,2024 (2024):8853018,https://doi.org/10.1155/2024/8853018.In文章中,Alisan Bayrakoglu, Seda Susgun和Ceyhun Toruntay被错误地从作者列表中省略。更新的作者名单和隶属关系如下所示,并已在文章中进行了更正。ay eg l yabacyi Tak1, Nihat Tak2, Alisan Bayrakoglu3, Seda Susgun4, Ceyhun Toruntay5, Ferda Ilgen Uslu3, Emrah Yucesan61。Bezmialem Vakıf大学医学院,生物统计和医学信息系,伊斯坦布尔,土耳其,rkiye2。马尔马拉大学理学院,统计学系,伊斯坦布尔,土耳其;Bezmialem Vakıf大学医学院神经内科,伊斯坦布尔,土耳其,rkiye4。Bezmialem Vakıf土耳其伊斯坦布尔大学医学系医学生物学系,土耳其伊斯坦布尔,rkiye5。伊斯坦布尔技术大学,科学与文学院,分子生物学与遗传学系,伊斯坦布尔,土耳其,土耳其;作者贡献如下:概念化:A.Y.T.和E.Y.方法论:A.Y.T.和E.Y.数据管理:A.Y.T., N.T., s.s., c.t., F.I.U和A.B.形式分析:A.Y.T.和N.T.写作-原稿:A.Y.T., E.Y.和N.T.写作-审查和编辑:A.Y.T., E.Y.和N.T.可视化:A.Y.T.监督:A.Y.T.我们为这个错误道歉。
{"title":"Correction to “Diagnostic Panel of Three Genetic Biomarkers Based on Artificial Neural Network for Patients With Idiopathic Generalized Epilepsy”","authors":"","doi":"10.1155/ane/9843676","DOIUrl":"https://doi.org/10.1155/ane/9843676","url":null,"abstract":"<p>A. Y. Tak, N. Tak, A. Bayrakoglu, et al., “Diagnostic Panel of Three Genetic Biomarkers Based on Artificial Neural Network for Patients With Idiopathic Generalized Epilepsy,” <i>Acta Neurologica Scandinavica</i>, 2024 (2024): 8853018, https://doi.org/10.1155/2024/8853018.</p><p>In the article, Alisan Bayrakoglu, Seda Susgun, and Ceyhun Toruntay were mistakenly omitted from the author list. The updated author list and affiliations are shown below and have been corrected in the article.</p><p>Ayşegül Yabacı Tak<sup>1</sup>, Nihat Tak<sup>2</sup>, Alisan Bayrakoglu<sup>3</sup>, Seda Susgun<sup>4</sup>, Ceyhun Toruntay<sup>5</sup>, Ferda Ilgen Uslu<sup>3</sup>, Emrah Yucesan<sup>6</sup></p><p>1. Bezmialem Vakıf University, Faculty of Medicine, Department of Biostatistics and Medical Informatics, Istanbul, Türkiye</p><p>2. Marmara University, Faculty of Science, Department of Statistics, Istanbul, Türkiye</p><p>3. Bezmialem Vakıf University, Faculty of Medicine, Department of Neurology, Istanbul, Türkiye</p><p>4. Bezmialem Vakıf University, Faculty of Medicine, Department of Medical Biology, Istanbul, Türkiye</p><p>5. Istanbul Technical University, Faculty of Science and Letters, Department of Molecular Biology and Genetics, Istanbul, Türkiye</p><p>6. Istanbul Cerrahpaşa University, Institute of Neurological Sciences, Department of Neurogenetics, Istanbul, Türkiye</p><p>The author contributions are as follows:</p><p>Conceptualization: A.Y.T. and E.Y. Methodology: A.Y.T. and E.Y. Data curation: A.Y.T., N.T., S.S., C.T., F.I.U., and A.B. Formal analysis: A.Y.T. and N.T. Writing—original draft: A.Y.T., E.Y., and N.T. Writing—review and editing: A.Y.T., E.Y., and N.T. Visualization: A.Y.T. Supervision: A.Y.T.</p><p>We apologize for this error.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2026 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/9843676","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146193722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Changes in Multiple Sclerosis Clinical Care and Outcomes During the COVID-19 Era: A Population-Wide Study COVID-19时代多发性硬化症临床护理和结局的变化:一项全人群研究
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-20 DOI: 10.1155/ane/5580372
Giuseppina Affinito, Anna He, Fredrik Piehl, Katharina Fink, Raffaele Palladino, Jan Hillert, Kyla A. McKay

Introduction

The Coronavirus Disease 2019 (COVID-19) pandemic has had a profound impact on healthcare systems globally, necessitating significant adaptations in the management of chronic conditions such as multiple sclerosis (MS). In Sweden, where a unique approach to pandemic mitigation was adopted, the effects on MS clinical care remain a subject of interest. This population-based study is aimed at assessing changes in MS clinical care during the COVID-19 era compared to the prepandemic period.

Methods

Using the data from the Swedish MS Registry, encompassing the periods from January 29, 2018, to February 29, 2020 (pre-COVID-19 era), and from March 1, 2020, to April 1, 2022 (COVID-19 era), we analyzed MS incidence rates, clinic visits, relapse rates, initiation of disease-modifying treatments (DMTs), and dosing intervals for infusion medications. Statistical analyses, including interrupted time series and mixed Poisson regression models, were employed to assess changes in outcomes while adjusting for relevant covariates.

Results

Our analysis included 19,959 MS patients. While there was a decrease in MS diagnoses during the pandemic period, this difference was not statistically significant. In contrast, a significant reduction in frequencies of physical clinical visits and relapse rates compared to the prepandemic period was evident. Treatment strategies shifted, with decreased utilization of anti-CD20 therapies and increased use of platform and other high-efficacy non–anti-CD20 DMTs. Dosing intervals for infusion medications were also extended during the COVID-19 era.

Conclusion

The findings underscore the substantial impact of the pandemic on MS clinical care practices and data capture in Sweden. Understanding these changes is crucial for monitoring or quality control of MS care, informing future research endeavors which access the Swedish MS Registry to measure disease outcomes in this population. The study highlights the responsiveness of healthcare systems in adapting to important challenges while emphasizing the importance of ongoing monitoring and adaptation in MS management practices.

2019冠状病毒病(COVID-19)大流行对全球医疗保健系统产生了深远影响,需要在多发性硬化症(MS)等慢性疾病的管理方面做出重大调整。在瑞典,采用了一种独特的方法来缓解大流行,对MS临床护理的影响仍然是一个感兴趣的主题。这项基于人群的研究旨在评估与大流行前相比,COVID-19时代MS临床护理的变化。方法使用瑞典MS Registry的数据,包括2018年1月29日至2020年2月29日(COVID-19前时代)和2020年3月1日至2022年4月1日(COVID-19时代),我们分析MS发病率、临床就诊、复发率、开始疾病改善治疗(dmt)和输注药物给药间隔。统计分析,包括中断时间序列和混合泊松回归模型,在调整相关协变量的同时评估结果的变化。结果纳入MS患者19,959例。虽然在大流行期间,多发性硬化症的诊断率有所下降,但这种差异在统计学上并不显著。相比之下,与大流行前时期相比,实际临床就诊频率和复发率明显减少。治疗策略发生了变化,抗cd20疗法的使用减少,平台和其他高效非抗cd20 dmt的使用增加。在新冠肺炎时期,输液药物的给药间隔也延长了。结论:研究结果强调了大流行对瑞典MS临床护理实践和数据采集的重大影响。了解这些变化对于监测或质量控制多发性硬化症护理至关重要,为未来的研究工作提供信息,以便访问瑞典多发性硬化症登记处来测量该人群的疾病结果。该研究强调了医疗保健系统在适应重要挑战方面的响应能力,同时强调了在MS管理实践中持续监测和适应的重要性。
{"title":"Changes in Multiple Sclerosis Clinical Care and Outcomes During the COVID-19 Era: A Population-Wide Study","authors":"Giuseppina Affinito,&nbsp;Anna He,&nbsp;Fredrik Piehl,&nbsp;Katharina Fink,&nbsp;Raffaele Palladino,&nbsp;Jan Hillert,&nbsp;Kyla A. McKay","doi":"10.1155/ane/5580372","DOIUrl":"https://doi.org/10.1155/ane/5580372","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The Coronavirus Disease 2019 (COVID-19) pandemic has had a profound impact on healthcare systems globally, necessitating significant adaptations in the management of chronic conditions such as multiple sclerosis (MS). In Sweden, where a unique approach to pandemic mitigation was adopted, the effects on MS clinical care remain a subject of interest. This population-based study is aimed at assessing changes in MS clinical care during the COVID-19 era compared to the prepandemic period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using the data from the Swedish MS Registry, encompassing the periods from January 29, 2018, to February 29, 2020 (pre-COVID-19 era), and from March 1, 2020, to April 1, 2022 (COVID-19 era), we analyzed MS incidence rates, clinic visits, relapse rates, initiation of disease-modifying treatments (DMTs), and dosing intervals for infusion medications. Statistical analyses, including interrupted time series and mixed Poisson regression models, were employed to assess changes in outcomes while adjusting for relevant covariates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our analysis included 19,959 MS patients. While there was a decrease in MS diagnoses during the pandemic period, this difference was not statistically significant. In contrast, a significant reduction in frequencies of physical clinical visits and relapse rates compared to the prepandemic period was evident. Treatment strategies shifted, with decreased utilization of anti-CD20 therapies and increased use of platform and other high-efficacy non–anti-CD20 DMTs. Dosing intervals for infusion medications were also extended during the COVID-19 era.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The findings underscore the substantial impact of the pandemic on MS clinical care practices and data capture in Sweden. Understanding these changes is crucial for monitoring or quality control of MS care, informing future research endeavors which access the Swedish MS Registry to measure disease outcomes in this population. The study highlights the responsiveness of healthcare systems in adapting to important challenges while emphasizing the importance of ongoing monitoring and adaptation in MS management practices.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2026 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/5580372","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146099454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sensory Issues and Fatigue Are Key Factors Contributing to Sexual Dysfunction in Women With Multiple Sclerosis 感觉问题和疲劳是导致多发性硬化症女性性功能障碍的关键因素
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-15 DOI: 10.1155/ane/9946835
K. Novotna, L. Friedova, J. Motyl, M. Vaneckova, D. Horakova, M. Andelova

Background/Aim

Sexual dysfunction (SD) is a prevalent yet underrecognized concern among women with multiple sclerosis (MS), substantially affecting quality of life. This study was aimed at investigating the magnetic resonance imaging (MRI) correlates of SD, with a particular focus on the spinal cord (SC), and to explore associations between SD and other disability metrics.

Methods

SD was assessed using the Female Sexual Function Index (FSFI) questionnaire, administered to 251 female patients with multiple sclerosis (PwMSs). All PwMSs underwent brain and cervical SC MRI at 3T, alongside EDSS, assessment of depression, fatigue, cognition, manual dexterity, and gait. Quantitative brain and SC MRI measures were obtained, including global and regional brain volumes, SC volume, and lesion counts in the brain and SC. Associations between quantitative MRI metrics, disability, and SD were analyzed using partial correlation, controlling for age and disease duration. Subsequently, the predictive value of MRI and clinical variables for SD severity was evaluated using linear regression models adjusted for age and disease duration.

Results

The response rate was 58.5%, with 32.7% PwMS meeting the criteria for SD. PwMS with SD exhibited significantly reduced right and left cingulate (p = 0.03 and 0.04) volumes. However, no significant correlations were observed between SD severity and quantitative MRI measures when controlling for age and disease duration. Fatigue and depression demonstrated moderate correlations with overall SD severity (rho = −0.491/−455, p < 0.001). Shorter 2-min walking test distance was associated with a higher risk of SD (p = 0.029). Sensory dysfunction (p = 0.025) and depression (p < 0.030) were the only independent predictors of SD severity.

Conclusion

Among MRI predictors of SD, we identified only a reduction of cingulate volume in PwMS with SD. Walking performance, depression, and sensory dysfunction were key predictors for SD presence and severity, highlighting the need for targeted screening for SD in PwMS with these risk factors. Exploring the role of contributing factors (use of antidepressants and medication for neuropathic pain) and interventions, that is, physical exercise, is warranted.

背景/目的:性功能障碍(SD)是多发性硬化症(MS)女性患者普遍存在但未被充分认识的问题,严重影响生活质量。本研究旨在探讨SD的磁共振成像(MRI)相关性,特别关注脊髓(SC),并探讨SD与其他残疾指标之间的关联。方法采用女性性功能指数(FSFI)问卷对251例多发性硬化症(PwMSs)女性患者进行SD评估。所有PwMSs患者在3T时进行脑和颈椎SC MRI,同时进行EDSS,评估抑郁、疲劳、认知、手灵巧性和步态。获得定量脑和SC MRI测量,包括整体和局部脑体积、SC体积以及脑和SC中的病变计数。定量MRI指标、残疾和SD之间的关联使用部分相关分析,控制年龄和疾病持续时间。随后,使用调整年龄和病程的线性回归模型评估MRI和临床变量对SD严重程度的预测价值。结果有效率为58.5%,其中32.7%的PwMS符合SD标准。SD组PwMS右侧和左侧扣带体积明显减少(p = 0.03和0.04)。然而,在控制年龄和疾病持续时间的情况下,SD严重程度与定量MRI测量之间没有显著相关性。疲劳和抑郁与总体SD严重程度有中度相关性(rho = - 0.491/ - 455, p < 0.001)。较短的2分钟步行测试距离与较高的SD风险相关(p = 0.029)。感觉功能障碍(p = 0.025)和抑郁(p < 0.030)是SD严重程度的唯一独立预测因子。结论在SD的MRI预测指标中,我们只发现了PwMS伴SD的扣带体积减少。行走表现、抑郁和感觉功能障碍是SD存在和严重程度的关键预测因素,强调有必要对具有这些危险因素的PwMS进行有针对性的SD筛查。探索促成因素(使用抗抑郁药和神经性疼痛药物)和干预措施(即体育锻炼)的作用是必要的。
{"title":"Sensory Issues and Fatigue Are Key Factors Contributing to Sexual Dysfunction in Women With Multiple Sclerosis","authors":"K. Novotna,&nbsp;L. Friedova,&nbsp;J. Motyl,&nbsp;M. Vaneckova,&nbsp;D. Horakova,&nbsp;M. Andelova","doi":"10.1155/ane/9946835","DOIUrl":"https://doi.org/10.1155/ane/9946835","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background/Aim</h3>\u0000 \u0000 <p>Sexual dysfunction (SD) is a prevalent yet underrecognized concern among women with multiple sclerosis (MS), substantially affecting quality of life. This study was aimed at investigating the magnetic resonance imaging (MRI) correlates of SD, with a particular focus on the spinal cord (SC), and to explore associations between SD and other disability metrics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>SD was assessed using the Female Sexual Function Index (FSFI) questionnaire, administered to 251 female patients with multiple sclerosis (PwMSs). All PwMSs underwent brain and cervical SC MRI at 3T, alongside EDSS, assessment of depression, fatigue, cognition, manual dexterity, and gait. Quantitative brain and SC MRI measures were obtained, including global and regional brain volumes, SC volume, and lesion counts in the brain and SC. Associations between quantitative MRI metrics, disability, and SD were analyzed using partial correlation, controlling for age and disease duration. Subsequently, the predictive value of MRI and clinical variables for SD severity was evaluated using linear regression models adjusted for age and disease duration.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The response rate was 58.5%, with 32.7% PwMS meeting the criteria for SD. PwMS with SD exhibited significantly reduced right and left cingulate (<i>p</i> = 0.03 and 0.04) volumes. However, no significant correlations were observed between SD severity and quantitative MRI measures when controlling for age and disease duration. Fatigue and depression demonstrated moderate correlations with overall SD severity (rho = −0.491/−455, <i>p</i> &lt; 0.001). Shorter 2-min walking test distance was associated with a higher risk of SD (<i>p</i> = 0.029). Sensory dysfunction (<i>p</i> = 0.025) and depression (<i>p</i> &lt; 0.030) were the only independent predictors of SD severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Among MRI predictors of SD, we identified only a reduction of cingulate volume in PwMS with SD. Walking performance, depression, and sensory dysfunction were key predictors for SD presence and severity, highlighting the need for targeted screening for SD in PwMS with these risk factors. Exploring the role of contributing factors (use of antidepressants and medication for neuropathic pain) and interventions, that is, physical exercise, is warranted.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2026 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/9946835","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146002248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identifying Red Flags in Myasthenia Gravis Diagnosis, Reassessment, and Myasthenic Crisis: An Italian Delphi-Based Position Paper 识别重症肌无力诊断、重新评估和重症肌无力危机中的危险信号:一份意大利德尔菲的立场文件
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-09 DOI: 10.1155/ane/9927870
Francesco Habetswallner, Luca Bello, Fiammetta Biasini, Bernardo Maria De Martino, Fiammetta Vanoli, Paolo E. Alboini, Giovanni Antonini, Carlo Antozzi, Valentina Damato, Vincenzo Di Stefano, Amelia Evoli, Matteo Gastaldi, Raffaele Iorio, Michelangelo Maestri, Renato Mantegazza, Roberto Massa, Rita Rinaldi, Francesco Saccà, Carmelo Rodolico

Background and Purpose

Myasthenia gravis (MG) is a complex autoimmune disorder affecting neuromuscular transmission, often leading to diagnostic and therapeutic challenges. Timely identification of “red flags” in diagnosis, therapeutic reassessment, and myasthenic crisis is crucial to optimizing patient outcomes. This Delphi-based consensus is aimed at synthesizing expert recommendations for improving clinical practice in Italy.

Methods

A scientific board of 19 MG specialists and an extended panel of 47 neuromuscular experts participated in a structured Delphi methodology. Over an 11-month period, consensus was developed across four areas: diagnostic red flags, confirmatory instrumental examinations, therapeutic reassessment, and the continuum from exacerbation to impending myasthenic crisis or to crisis. The threshold for achieving consensus was set at ≥ 75% agreement.

Results

Globally, 68 statements reached consensus. Key findings include the identification of “red flags” for suspecting MG, with fluctuating and fatigable muscle weakness serving as primary diagnostic indicators, often involving ocular, bulbar, and respiratory muscles. Instrumental tests, such as repetitive nerve stimulation and antibody assays, were deemed essential for diagnostic confirmation. Therapeutic reassessment in MG is warranted for unsatisfactory symptom control, clinically significant adverse events, new or worsening comorbidities, planning pregnancy, or neoplastic disease. Persistent fluctuations, exacerbations, or triggers like infections should prompt adjustments, aiming to optimize treatment while minimizing risks. High-risk factors and triggers for myasthenic crises, including thymoma and infections, were identified, with arterial blood gas analysis highlighted as critical for crisis management.

Conclusions

This consensus provides actionable recommendations to enhance the identification and management of MG, addressing diagnostic delays, therapy optimization, and crisis prevention. These findings aim to guide clinical practice and foster a systematic approach to managing this heterogeneous disorder.

背景与目的重症肌无力(MG)是一种影响神经肌肉传递的复杂自身免疫性疾病,经常导致诊断和治疗方面的挑战。及时识别诊断、治疗重新评估和肌无力危象中的“危险信号”对于优化患者预后至关重要。这一基于德尔菲的共识旨在综合专家建议,以改善意大利的临床实践。方法由19名MG专家组成的科学委员会和47名神经肌肉专家组成的扩展小组参与了结构化的德尔菲法。在11个月的时间里,在四个方面达成了共识:诊断危险信号,确证性工具检查,治疗重新评估,以及从加重到即将发生的肌无力危象或危象的连续体。达成共识的阈值设定为≥75%的一致性。结果全球共有68份声明达成共识。主要发现包括识别疑似MG的“危险信号”,以波动性和疲劳性肌肉无力作为主要诊断指标,通常涉及眼肌、球肌和呼吸肌。仪器测试,如重复神经刺激和抗体测定,被认为是诊断确认的必要条件。对于不满意的症状控制、临床显著不良事件、新的或恶化的合并症、计划妊娠或肿瘤疾病,MG的治疗重新评估是必要的。持续波动、恶化或感染等触发因素应促使调整,旨在优化治疗,同时最大限度地降低风险。确定了包括胸腺瘤和感染在内的肌无力危机的高危因素和触发因素,并强调动脉血气分析是危机管理的关键。结论这一共识为加强MG的识别和管理、解决诊断延误、优化治疗和危机预防提供了可行的建议。这些发现旨在指导临床实践,并促进系统的方法来管理这种异质性疾病。
{"title":"Identifying Red Flags in Myasthenia Gravis Diagnosis, Reassessment, and Myasthenic Crisis: An Italian Delphi-Based Position Paper","authors":"Francesco Habetswallner,&nbsp;Luca Bello,&nbsp;Fiammetta Biasini,&nbsp;Bernardo Maria De Martino,&nbsp;Fiammetta Vanoli,&nbsp;Paolo E. Alboini,&nbsp;Giovanni Antonini,&nbsp;Carlo Antozzi,&nbsp;Valentina Damato,&nbsp;Vincenzo Di Stefano,&nbsp;Amelia Evoli,&nbsp;Matteo Gastaldi,&nbsp;Raffaele Iorio,&nbsp;Michelangelo Maestri,&nbsp;Renato Mantegazza,&nbsp;Roberto Massa,&nbsp;Rita Rinaldi,&nbsp;Francesco Saccà,&nbsp;Carmelo Rodolico","doi":"10.1155/ane/9927870","DOIUrl":"https://doi.org/10.1155/ane/9927870","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Myasthenia gravis (MG) is a complex autoimmune disorder affecting neuromuscular transmission, often leading to diagnostic and therapeutic challenges. Timely identification of “red flags” in diagnosis, therapeutic reassessment, and myasthenic crisis is crucial to optimizing patient outcomes. This Delphi-based consensus is aimed at synthesizing expert recommendations for improving clinical practice in Italy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A scientific board of 19 MG specialists and an extended panel of 47 neuromuscular experts participated in a structured Delphi methodology. Over an 11-month period, consensus was developed across four areas: diagnostic red flags, confirmatory instrumental examinations, therapeutic reassessment, and the continuum from exacerbation to impending myasthenic crisis or to crisis. The threshold for achieving consensus was set at ≥ 75% agreement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Globally, 68 statements reached consensus. Key findings include the identification of “red flags” for suspecting MG, with fluctuating and fatigable muscle weakness serving as primary diagnostic indicators, often involving ocular, bulbar, and respiratory muscles. Instrumental tests, such as repetitive nerve stimulation and antibody assays, were deemed essential for diagnostic confirmation. Therapeutic reassessment in MG is warranted for unsatisfactory symptom control, clinically significant adverse events, new or worsening comorbidities, planning pregnancy, or neoplastic disease. Persistent fluctuations, exacerbations, or triggers like infections should prompt adjustments, aiming to optimize treatment while minimizing risks. High-risk factors and triggers for myasthenic crises, including thymoma and infections, were identified, with arterial blood gas analysis highlighted as critical for crisis management.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This consensus provides actionable recommendations to enhance the identification and management of MG, addressing diagnostic delays, therapy optimization, and crisis prevention. These findings aim to guide clinical practice and foster a systematic approach to managing this heterogeneous disorder.</p>\u0000 </section>\u0000 </div>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2026 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/9927870","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145983964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction to “Hidden in Plain Sight: Non-Convulsive Status Epilepticus—Recognition and Management” 更正“隐藏在眼前:癫痫非惊厥状态-识别和管理”
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-12-29 DOI: 10.1155/ane/9798608

M.O. Kinney, J.J. Craig, P.W. Kaplan, “Hidden in Plain Sight: Non-Convulsive Status Epilepticus—Recognition and Management,” Acta Neurologica Scandinavica 136 (2017): 280–292. https://doi.org/10.1111/ane.12732

In the article, there are errors in Table 6. Specifically, the values for Propofol and Midazolam in the ‘Death during infusion’ and ‘Withdrawal Seizures’ rows were inadvertently switched. The correct Table 6 is shown below:

We apologize for this error.

M.O. Kinney, J.J. Craig, P.W. Kaplan,“隐藏在普通视线中:非惊厥状态癫痫-识别和管理”,《斯堪的纳维亚神经学报》136(2017):280-292。https://doi.org/10.1111/ane.12732In文章中,表6中有错误。具体来说,异丙酚和咪达唑仑在“输注过程中死亡”和“戒断性癫痫发作”栏中的值被无意中调换了。正确的表6如下所示:我们为这个错误道歉。
{"title":"Correction to “Hidden in Plain Sight: Non-Convulsive Status Epilepticus—Recognition and Management”","authors":"","doi":"10.1155/ane/9798608","DOIUrl":"https://doi.org/10.1155/ane/9798608","url":null,"abstract":"<p>M.O. Kinney, J.J. Craig, P.W. Kaplan, “Hidden in Plain Sight: Non-Convulsive Status Epilepticus—Recognition and Management,” <i>Acta Neurologica Scandinavica</i> 136 (2017): 280–292. https://doi.org/10.1111/ane.12732</p><p>In the article, there are errors in Table 6. Specifically, the values for Propofol and Midazolam in the ‘Death during infusion’ and ‘Withdrawal Seizures’ rows were inadvertently switched. The correct Table 6 is shown below:</p><p>We apologize for this error.</p>","PeriodicalId":6939,"journal":{"name":"Acta Neurologica Scandinavica","volume":"2025 1","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1155/ane/9798608","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145891060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Acta Neurologica Scandinavica
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1