Acta neurologica Belgica最新文献

{"title":"Circulating miR-223/NLRP3 axis and IL-1β level in functional disease progression of amyotrophic lateral sclerosis.","authors":"Mitra Ansari Dezfouli, Davood Shalilahmadi, Gholamreza Shamsaei, Ashkan Esmaeili, Nastaran Majdinasab, Seyed Khalil Rashidi","doi":"10.1007/s13760-025-02764-5","DOIUrl":"10.1007/s13760-025-02764-5","url":null,"abstract":"<p><strong>Background: </strong>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease identified by progressive motor neuron loss. NLRP3 inflammasomes induce inflammation and pyroptosis, which can lead to neurodegeneration, muscle atrophy, and respiratory decline. miR-223 targets NLRP3 and suppresses inflammasome formation. Here, miR-223, NLRP3 and IL-1β levels were evaluated as plasma biomarkers in the incidence and progression of ALS.</p><p><strong>Methods: </strong>32 ALS patients and 32 healthy subjects were assessed. In all patients, the functional disability was determined by Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R), and the respiratory dysfunction was assessed by the percent predicted forced vital capacity (ppFVC) index in spirometry examination. Plasma levels of miR-223, NLRP3 and IL-1β were assessed in ALS and control groups.</p><p><strong>Results: </strong>Compared to the healthy controls, ALS patients showed decreased miR-223 expression (P < 0.0001), increased NLRP3 expression (P = 0.0002) and increased IL-1β level (P = 0.0003). The areas under the ROC curves for miR-223, NLRP3 and IL-1β were 0.82, 0.76 and 0.75 respectively. The ALSFRS-R and ppFVC values were positively correlated with miR-223 and negatively correlated with NLRP3 and IL-1β levels.</p><p><strong>Conclusion: </strong>Our results indicated that changes in miR-223, NLRP3 and IL-1β levels may correlate with the occurrence and functional progression of ALS. Additionally, therapeutic approaches based on miR-223 and inflammatory mediators can be proposed as effective strategies against disease progression.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"783-791"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143646731","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}

{"title":"The performance of machine learning for predicting the recurrent stroke: a systematic review and meta-analysis on 24,350 patients.","authors":"Mohammad Amin Habibi, Farhang Rashidi, Ehsan Mehrtabar, Mohammad Reza Arshadi, Mohammad Sadegh Fallahi, Nikan Amirkhani, Bardia Hajikarimloo, Milad Shafizadeh, Shahram Majidi, Adam A Dmytriw","doi":"10.1007/s13760-024-02682-y","DOIUrl":"10.1007/s13760-024-02682-y","url":null,"abstract":"<p><strong>Background: </strong>Stroke is a leading cause of death and disability worldwide. Approximately one-third of patients with stroke experienced a second stroke. This study investigates the predictive value of machine learning (ML) algorithms for recurrent stroke.</p><p><strong>Method: </strong>This study was prepared according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. PubMed, Scopus, Embase, and Web of Science (WOS) were searched until January 1, 2024. The quality assessment of studies was conducted using the QUADAS-2 tool. The diagnostic meta-analysis was conducted to calculate the pooled sensitivity, specificity, diagnostic accuracy, positive and negative diagnostic likelihood ratio (DLR), diagnostic accuracy, diagnostic odds ratio (DOR), and area under of the curve (AUC) by the MIDAS package in STATA V.17.</p><p><strong>Results: </strong>Twelve studies, comprising 24,350 individuals, were included. The meta-analysis revealed a sensitivity of 71% (95% CI 0.64-0.78) and a specificity of 88% (95% confidence interval (CI) 0.76-0.95). Positive and negative DLR were 5.93 (95% CI 3.05-11.55) and 0.33 (95% CI 0.28-0.39), respectively. The diagnostic accuracy and DOR was 2.89 (95% CI 2.32-3.46) and 18.04 (95% CI 10.21-31.87), respectively. The summary ROC curve indicated an AUC of 0.82 (95% CI 0.78-0.85).</p><p><strong>Conclusion: </strong>ML demonstrates promise in predicting recurrent strokes, with moderate to high sensitivity and specificity. However, the high heterogeneity observed underscores the need for standardized approaches and further research to enhance the reliability and generalizability of these models. ML-based recurrent stroke prediction can potentially augment clinical decision-making and improve patient outcomes by identifying high-risk patients.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"609-624"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142589467","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}

{"title":"Ocular Myasthenia gravis: what predicts secondary generalization?","authors":"Prateek Kumar Panda, Indar Kumar Sharawat","doi":"10.1007/s13760-025-02720-3","DOIUrl":"10.1007/s13760-025-02720-3","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"859-860"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982383","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}

{"title":"Zellweger spectrum disorder presenting with opsoclonus-myoclonus-ataxia syndrome: a case report on immunotherapy.","authors":"Mustafa Kılıç, Harun Yıldız, Bahadır Konuskan","doi":"10.1007/s13760-025-02724-z","DOIUrl":"10.1007/s13760-025-02724-z","url":null,"abstract":"<p><strong>Introduction: </strong>Zellweger spectrum disorder (ZSD) refers to a group of autosomal recessive genetic disorders that affect multiple organ systems and are predominantly caused by pathogenic variants in PEX genes. ZSD present a wide clinical spectrum, ranging from the most severe form, Zellweger syndrome, to the mildest form, Heimler syndrome.</p><p><strong>Case report: </strong>A 14-month-old male patient was brought to our clinic with recent-onset ocular tremors and unsteady gait. Based on the preliminary suspicion of an infection-related autoimmune disease, the patient received intravenous immunoglobulin (IVIG) and pulse steroid therapy. Although initial clinical improvement was observed in opsoclonus and ataxia, ocular symptoms later recurred. Peroxisomal profile revealed elevated plasma levels of phytanic acid, pristanic acid, and very long-chain fatty acids (C26), raising suspicion for ZSD. Consequently, dietary restrictions for very long-chain fatty acids, phytanic acid, and pristanic acid, along with vitamin supplementation (A, D, E, and K), were initiated. Molecular genetic testing identified a homozygous c.2528G > A, p.(Gly843Asp) pathogenic variant in the PEX1 gene, confirming the diagnosis.</p><p><strong>Conclusion: </strong>Zellweger spectrum disorder presents with a wide range of clinical manifestations. While no effective treatment currently exists, a diet restricted in very long-chain and branched-chain fatty acids, supplementation with vitamins A, D, E, and K, and bile acid therapy are commonly used. In our patient, IVIG and pulse steroid therapy were administered due to a preliminary suspicion of an autoimmune process, resulting in a short-term partial clinical response. To our knowledge, the use of immunotherapy in ZSD has not been previously reported in the literature.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"861-864"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142998318","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}

{"title":"Etiologic spectrum and neurological outcomes in pediatric arterial ischemic stroke and cerebral sinovenous thrombosis: A 15-Year retrospective study at a tertiary hospital.","authors":"Hatice Bektaş, Rahşan Göçmen, Kader Karlı Oğuz, Şule Ünal, Selin Aytaç, Fatma Gümrük, Tevfik Karagöz, Göknur Haliloğlu, Dilek Yalnızoğlu","doi":"10.1007/s13760-025-02753-8","DOIUrl":"10.1007/s13760-025-02753-8","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate clinical and radiological features, risk factors, etiology, treatment approaches, and outcomes of pediatric arterial ischemic stroke (AIS) and cerebral sinovenous thrombosis (CSVT).</p><p><strong>Methods: </strong>Children beyond the neonatal period diagnosed with AIS or CSVT between 2002 and 2017 were retrospectively analyzed. Demographics, clinical presentations, radiological findings, risk factors, etiologies, treatments, and outcomes were reviewed.</p><p><strong>Results: </strong>A total of 94 patients with AIS and 27 with CSVT were included. The median age for AIS patients was 4.1 years (IQR:1.6-9.8). Focal neurological deficits were present in 81.7%, hemiparesis being the most common symptom. Seizures were noted in 30.4%. Cardiac abnormalities (39%) and arteriopathies (38%) were the most common etiologies, with prothrombotic conditions and rare genetic disorders also remarkable underlying risk groups. Antithrombotic therapy was administered without major complications to 89.3%. At a median three-year follow-up, 33.8% had no neurological deficits, 33.8% had moderate to severe deficits or died, 16.2% had epilepsy. For CSVT, the median age was 9.6 years (IQR:3.2-12.6). Diffuse neurological symptoms were present in 77.7%, primarily headaches and vomiting. Seizures occurred in 22.2%. All CSVT patients had at least one risk factor. Chronic systemic conditions (63%) and infections (44%) were the most common risk factors. During follow-up of a median of 43 months, 63.6% had no neurological deficits.</p><p><strong>Conclusions: </strong>Pediatric stroke has a broad spectrum of risk factors. Our study contributes to the existing knowledge on pediatric AIS and CSVT, providing a detailed overview of pediatric AIS and CSVT at a tertiary center, reflecting the growing awareness of physicians in childhood cerebrovascular diseases.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"757-770"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630162","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}

{"title":"Cerebrospinal fluid biomarkers of efficacy in patients affected by spinal muscular atrophy type 1 treated with nusinersen.","authors":"Maria Sframeli, Francesca Polito, Gianluca Vita, Vincenzo Macaione, Eloisa Gitto, Giuseppe Vita, M'hammed Aguennouz, Sonia Messina","doi":"10.1007/s13760-025-02784-1","DOIUrl":"10.1007/s13760-025-02784-1","url":null,"abstract":"<p><strong>Background: </strong>The advent of new therapies, such as the antisense oligonucleotide nusinersen, has significantly improved the natural course of spinal muscular atrophy (SMA). Tau proteins and neurofilaments are well known markers of neuro-axonal damages. The neurofilament light protein (NfL) has been proposed as a possible biomarker in SMA. This study aimed to investigate the role of total-tau (t-tau), phosphorylated tau at 181 sites (p-tau 181), NfL, and phosphorylated neurofilament heavy chain (pNfH) proteins as potential cerebrospinal fluid (CSF) biomarkers of disease severity and/or nusinersen treatment response in 14 SMA type 1 patients with a wide age range (2-156 months).</p><p><strong>Methods and results: </strong>Motor functions were assessed using the \"Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders\" (CHOP-INTEND) scale at baseline, six months and ten months after treatment. Eight out of 14 patients showed motor improvement. At baseline CSF t-tau and p-tau181 concentration showed a significant negative correlation with age (p = 0.0002 and p = 0.0054 respectively) and a positive correlation with the CHOP-INTEND score (p = 0.0075 and p = 0.0342, respectively). After treatment the tau biomarkers did not show any change, whereas NfL and pNfH concentration significantly decreased (p = 0.0001). The NfL concentration decline correlated to age at baseline (p < 0.05) and to the improvement of the CHOP-INTEND motor score, in the subgroup of patients with a functional improvement above 3 points (p < 0.05).</p><p><strong>Conclusions: </strong>CSF neurofilaments and particularly NfL may bepromising biomarkers for monitoring treatment response to nusinersen, both in younger and older patients with severe SMA.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"819-827"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960646","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}

{"title":"Varicella-Zoster virus associated vasculopathy in a young male multiple sclerosis patient, treated with dimethyl fumarate.","authors":"Jules Jeuris, Riet Vangheluwe, Sofie Van Cauter","doi":"10.1007/s13760-025-02723-0","DOIUrl":"10.1007/s13760-025-02723-0","url":null,"abstract":"<p><p>With the increasing use of disease modifying therapies as treatment for multiple sclerosis, knowledge of the rare but possibly severe adverse events becomes increasingly important. We present a case of Varicella-Zoster virus associated vasculopathy in a young male multiple sclerosis patient, treated with dimethyl fumarate. We aim to address this rare but potentially deadly complication of varicella-Zoster virus infection and spread awareness about the increased risk in this patient population.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"875-878"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143057694","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}

{"title":"Quantitative evaluation of early antifibrinolytic therapy on 90-day mortality in elderly patients with acute traumatic subdural hematoma: insights from a prospective cohort study.","authors":"Tao Liu, Minzhi Zhang, Zhihao Zhao, Biao Zhao, Yunhu Yu, Rongcai Jiang","doi":"10.1007/s13760-025-02751-w","DOIUrl":"10.1007/s13760-025-02751-w","url":null,"abstract":"<p><strong>Background and objectives: </strong>Acute traumatic subdural hematomas (aTSDH) represent a frequent and critical neurosurgical emergency, associated with a significant risk of mortality. Elderly patients with symptomatic aTSDH may benefit from early antifibrinolytic therapy (EAFT). We aim to investigate whether EAFT can improve clinical outcomes in aTSDH patients and to explore the factors influencing mortality, using data from a nationwide, multicenter, prospective cohort study.</p><p><strong>Methods: </strong>Multicenter, prospective cohort study at 30 trauma centers from 2023 to 2024 enrolled 963 patients diagnosed aTSDH. After screening, 297 patients aged 60 years or older met inclusion criteria. The primary outcome was 90-day mortality. Secondary outcomes included vascular occlusion, brain rebleeding, sepsis, gastrointestinal bleeding, and renal failure.</p><p><strong>Results: </strong>A total of 297 aTSDH patients were identified, of whom 195 received EAFT, and 102 were in the control group. After propensity score matching (PSM), 80 patients in each group were compared. There were no significant differences in 90-day mortality (before PSM, P = 0.439; after PSM, P = 0.828). The difference between the two group in the incidence of brain rebleeding, sepsis, gastrointestinal bleeding, and renal failure were similar before and after PSM. The EAFT group had a significantly higher incidence of vascular occlusion compared to the control group (before PSM, P = 0.014; after PSM, P = 0.027). In multivariate logistic regression (odds ratio [95% confidence interval]), increased 90-day mortality was predicted by larger hematoma volume (2.329 [1.123-4.830], P = 0.023) and greater midline shift (2.251 [1.065-4.755], P = 0.034). Sensitivity analysis indicated that there was heterogeneity in the treatment effects between the two groups across different midline shift categories (before PSM, P = 0.012; after PSM, P = 0.043).</p><p><strong>Conclusion: </strong>EAFT may not significantly reduce mortality in elderly aTSDH patients and could potentially increase the risk of vascular occlusion. Therefore, its use in this population should be approached with caution, carefully assessing the potential risks.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"717-726"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522408","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}

{"title":"Letter to the editor regarding \"Postoperative elevated bed header position versus supine in the management of chronic subdural hematoma: a systematic review and meta-analysis\" by Ibrahim Serag et al.","authors":"Rodrigo Batata, Vasco Sá Pinto, Sérgio Sousa, Eduardo Cunha, Alfredo Calheiros","doi":"10.1007/s13760-024-02687-7","DOIUrl":"10.1007/s13760-024-02687-7","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"837-838"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142611889","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}

{"title":"Rethinking the diagnostic value of thymic CT in ocular myasthenia gravis.","authors":"Hung Youl Seok","doi":"10.1007/s13760-024-02716-5","DOIUrl":"10.1007/s13760-024-02716-5","url":null,"abstract":"","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":"853-854"},"PeriodicalIF":2.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891262","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}