Acta neurologica Belgica最新文献

{"title":"Association between CHI3L1 and CRTH2 genetic variants, clinical phenotype, and neurological disability in multiple sclerosis.","authors":"Mursel Hazaloglu, Ahmet Dursun, Sevim Karakas Celik, Gunes Cakmak Genc, Mustafa Acikgoz","doi":"10.1007/s13760-026-03214-6","DOIUrl":"https://doi.org/10.1007/s13760-026-03214-6","url":null,"abstract":"<p><strong>Background: </strong>Multiple sclerosis (MS) is a neuroinflammatory disease, and reliable genetic markers associated with disease course and disability remain limited. CHI3L1 (YKL-40) and CRTH2 (PTGDR2) are involved in inflammatory and glial processes, but the contribution of their genetic variants to MS remains incompletely understood.</p><p><strong>Objective: </strong>We aimed to investigate whether selected CHI3L1 and CRTH2 single-nucleotide polymorphisms (SNPs) are associated with MS susceptibility, clinical phenotype, and neurological disability.</p><p><strong>Methods: </strong>We included 123 MS patients and 117 healthy controls. MS diagnosis was based on the 2017 McDonald criteria, and patients were classified as RRMS, SPMS, or PPMS. For subgroup analyses, SPMS and PPMS were combined into a Progressive MS group because of the limited number of PPMS patients. Neurological disability was evaluated cross-sectionally using the Expanded Disability Status Scale (EDSS; <4 vs. ≥ 4). We genotyped CHI3L1 rs10399805 and rs871799, and CRTH2 rs533116 and rs11571288 using RT-PCR or PCR-RFLP. Associations were tested using chi-square or Fisher's exact tests under different genetic models, and odds ratios (ORs) with 95% confidence intervals were calculated. In silico analyses were also performed to explore the potential functional effects of the variants.</p><p><strong>Results: </strong>CHI3L1 rs871799 showed a significant association with MS under the dominant model, with the CG + GG genotypes being more frequent in patients than in controls. In direct comparisons between RRMS and Progressive MS patients, rs871799 genotype and allele distributions differed significantly, with the G allele and GG genotype being more frequent in Progressive MS. The rs871799 variant was also associated with cross-sectional neurological disability (EDSS ≥ 4) under multiple genetic models. For CRTH2 rs11571288, no significant association was observed between the overall MS group and healthy controls; however, the GG genotype was more frequent in RRMS patients than in healthy controls under the recessive model. No significant associations were observed for rs10399805 or rs533116 in the overall analysis or in the clinical subgroup comparisons.</p><p><strong>Conclusions: </strong>CHI3L1 rs871799 may be associated with MS susceptibility under the dominant model, clinical phenotype, and cross-sectional neurological disability. CRTH2 rs11571288 was not associated with overall MS susceptibility but may be associated with the RRMS phenotype under the recessive model. These findings are exploratory and should be interpreted cautiously, particularly given the limited number of PPMS patients, the combined analysis of SPMS and PPMS, and the cross-sectional assessment of disability. Further studies in larger independent cohorts with longitudinal follow-up are warranted.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126304","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":"Beyond Wilson Disease: a comprehensive review of the Non-Wilsonian Causes and differentiating imaging features of the \"Face of the Giant Panda\" sign.","authors":"Nishanth Gowda, Sathish M Kumar","doi":"10.1007/s13760-026-03212-8","DOIUrl":"https://doi.org/10.1007/s13760-026-03212-8","url":null,"abstract":"<p><p>The \"Face of the Giant Panda\" sign is a characteristic magnetic resonance imaging (MRI) appearance classically associated with Wilson disease. Although traditionally considered highly suggestive of Wilson disease, increasing evidence shows that this pattern is not pathognomonic and may occur across a wide range of neurological disorders. This review provides a comprehensive account of non-Wilsonian causes of the giant panda sign, with emphasis on pathophysiological mechanisms, characteristic imaging features, and, critically, the additional MRI findings beyond the panda configuration itself that allow these mimics to be distinguished from Wilson disease and from one another. A narrative review of the literature was conducted using PubMed/MEDLINE and Google Scholar, focusing on reports describing the giant panda sign and panda-like midbrain appearances. Reported etiologies were classified into mitochondrial, toxic-metabolic, infectious, inflammatory-demyelinating, vascular, neoplastic, prion, neurodegenerative, nutritional, and hypoxic-ischemic disorders. For each entity, we summarize diffusion-weighted imaging behavior, contrast-enhancement pattern, associated lesion distribution, and key clinical differentiators in a consolidated comparison table, and we present an expanded diagnostic algorithm incorporating these clues. Panda-related variant signs (miniature panda, double panda, and \"bright eyes\") are also described. Important mimics include Leigh syndrome, osmotic demyelination syndrome, methanol toxicity, isoniazid toxicity, metronidazole neurotoxicity, Japanese and West Nile encephalitis, neurocysticercosis, acute disseminated encephalomyelitis, Wernicke encephalopathy, maple syrup urine disease, primary CNS lymphoma, Creutzfeldt-Jakob disease, and select vascular and space-occupying lesions. Recognition of accompanying imaging findings-diffusion restriction, enhancement, hemorrhage, calcification, and the association of basal ganglia or white matter involvement-together with clinical and biochemical correlation, is essential for accurate diagnosis. The giant panda sign should therefore be regarded as a neuroradiological pattern of selective midbrain injury rather than a disease-specific marker.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149102789","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":"Greater occipital nerve block versus intranasal sphenopalatine ganglion block in chronic migraine with failure of at least two oral preventive treatments: a prospective, non-randomised patient-preference comparative study.","authors":"Sinan Pektaş, Suna Aşkın Turan","doi":"10.1007/s13760-026-03206-6","DOIUrl":"https://doi.org/10.1007/s13760-026-03206-6","url":null,"abstract":"<p><strong>Background: </strong>Prospective comparative evidence for greater occipital nerve (GON) block and intranasal sphenopalatine ganglion (SPG) block is limited. This study describes the six-month course of two treatment cohorts of patients with chronic migraine in whom at least two oral preventive treatments had failed.</p><p><strong>Objective: </strong>To describe changes in migraine attack frequency, pain intensity, acute medication intake and associated symptoms after distal landmark-guided GON block or topical intranasal SPG block, and to examine whether the trajectories of the two cohorts differed.</p><p><strong>Methods: </strong>In this single-centre prospective observational study, treatment followed the patient's acceptance or refusal of an injection; allocation was not randomised. Of 100 enrolled patients, 78 had complete baseline and month 1, 3 and 6 data (GONB group n = 45; SPG block group n = 33). Each procedure used 3 mL of 0.5% bupivacaine weekly for four weeks. Attack frequency, Numerical Rating Scale (NRS) pain intensity and triptan and NSAID intake days were analysed with linear mixed-effects models containing group, categorical time and their interaction, with Holm adjustment across the four outcomes and covariate-adjusted sensitivity models. Associated symptoms were self-reported and analysed only in patients with the symptom at baseline.</p><p><strong>Results: </strong>Both cohorts showed lower attack frequency, pain intensity and acute medication intake throughout follow-up (Friedman p < 0.001 in both groups). At month six, model-estimated attack frequency was 3.69/month (95% CI 3.40-3.98) in the GONB group and 4.24/month (3.90-4.58) in the SPG block group, and the NRS score was 4.56 (4.26-4.85) versus 5.48 (5.14-5.83). In the primary unadjusted models the group-by-time interaction was significant for attack frequency (p = 0.034) and NRS (p = 0.007) and not for triptan (p = 0.057) or NSAID days (p = 0.298); after Holm adjustment across the four outcomes only NRS remained significant (p = 0.030), and in the covariate-by-time sensitivity models no interaction remained significant after adjustment. A ≥ 50% reduction in attack frequency occurred in 40/45 (88.9%) and 28/33 (84.8%) patients (risk difference 4.0% points, 95% CI - 11.0 to 21.0). Baseline stabbing (p = 0.019) and electric shock-like pain (p = 0.009) were more frequent in the SPG block group. Reported adverse events were mild dizziness in three GONB patients and brief epistaxis in one SPG block patient.</p><p><strong>Conclusion: </strong>Both patient-preference cohorts showed within-group improvement over six months. Preference-based allocation, baseline phenotype differences, incomplete follow-up and the sensitivity of the between-group comparisons to multiplicity and covariate adjustment prevent conclusions about efficacy or superiority. Randomised, controlled studies using standardised headache-day endpoints are required.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149102908","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":"Shorter Leukocyte telomere length as a marker of biological aging in relapsing-remitting multiple sclerosis.","authors":"Ilker Karacan, Seda Susgun, Didem Savasci, Begum Yigit, Deniz Yozlu, Nur Damla Korkmaz, Omer Faruk Duzenli, Aysegul Yabaci, Emrah Yucesan, Azize Esra Basar Gursoy","doi":"10.1007/s13760-026-03208-4","DOIUrl":"https://doi.org/10.1007/s13760-026-03208-4","url":null,"abstract":"<p><strong>Background: </strong>Multiple sclerosis (MS) is increasingly recognized not only as an immune-mediated demyelinating disease but also as a disorder characterized by accelerated biological aging. Leukocyte telomere length (LTL) serves as a hallmark biomarker of cellular senescence, yet its predictive role in early-stage MS and its modulation by shelterin complex genetics remain to be fully elucidated.</p><p><strong>Methods: </strong>In this cross-sectional study, relative LTL was measured via quantitative polymerase chain reaction in a highly characterized, young cohort of patients with relapsing-remitting MS (RRMS; n = 40, age ≤ 40) and age- and sex-matched healthy controls (n = 39). High-resolution melting analysis was utilized to genotype key shelterin complex polymorphisms: TERF1 (rs10107605, rs1545827) and TERF2 (rs251796). Comprehensive genetic association testing across codominant, dominant, recessive, overdominant, and additive models was conducted alongside clinical/imaging phenotype correlations.</p><p><strong>Results: </strong>LTL was significantly shorter in RRMS patients than in healthy controls (p = 0.005), suggesting evidence of accelerated biological aging even in this relatively young cohort. Receiver operating characteristic analysis demonstrated modest discriminatory performance area under the curve = 0.698 (95% CI: 0.60-0.79). Notably, across all inheritance models, TERF1 and TERF2 polymorphisms exhibited no significant association with LTL. Furthermore, subgroup analyses revealed that LTL attrition was independent of chronological age, sex, smoking status, or disease duration, indicating that telomere erosion is driven primarily by intrinsic disease-related systemic stress rather than host shelterin genetic predisposition.</p><p><strong>Conclusions: </strong>Our findings demonstrate that leukocyte telomere shortening represents a distinct molecular signature of premature biological aging in young MS patients. By decoupling telomere depletion from primary shelterin genetic variability, this work consistent with disease-driven immunosenescence in MS. In long-standing, heterogeneous disorders like MS, LTL emerges as a promising biomarker for capturing biological decline prior to irreversible neurodegeneration. This study provides a basis for future longitudinal multi-omics investigations exploring telomere dynamics in chronic neuroinflammation.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149102835","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":"Development and pilot multicentre evaluation of a patient-reported experience measure for acute ischemic stroke care.","authors":"Charlotte Lens, Ellen Coeckelberghs, Liesbet Arnouts, Hanne Van den Wijngaert, Deborah Seys, Kris Vanhaecht, Roel Blondia, Bregje D'haeze, Anneke Govaerts, Marijke Huskens, Annelies Terwecoren, Peter Vanacker, Wendy Van Daele, Natalie Van Mullem, Jelle Demeestere, Caroline Weltens, Robin Lemmens","doi":"10.1007/s13760-026-03201-x","DOIUrl":"https://doi.org/10.1007/s13760-026-03201-x","url":null,"abstract":"<p><strong>Introduction: </strong>The quality of stroke care is typically assessed using clinical outcomes defined by healthcare professionals. Patient-Reported Experience Measures (PREMs) can provide additional valuable insights into patients' experiences of care processes. However, existing stroke PREMs have limitations in assessing the experiences of patients with ischemic stroke. Therefore, this study aimed to develop and evaluate a PREM specifically for this patient population.</p><p><strong>Methods: </strong>A new PREM was developed, partially based on existing instruments. Stakeholders in the field participated in the selection process, after which the PREM was implemented in a multihospital pilot setting. To evaluate feasibility and reliability, we assessed (non-)response, extreme-category concentration, inter-item correlations, and Cronbach's alpha. Exploratory factor analysis (EFA) was conducted.</p><p><strong>Results: </strong>The 26-item survey was evaluated across nine Flemish hospitals. The PREM-questionnaire was distributed to 277 patients, of whom 165 completed the survey, resulting in a 60% response rate. Missing values were below the 10% threshold, and no sociodemographic differences were observed between respondents and non-respondents. No concentration in extreme response categories was observed, supporting the instrument's ability to discriminate between respondents. Results of the EFA (n = 105) were exploratory and require conformation in a larger sample.</p><p><strong>Discussion and conclusion: </strong>The newly developed PREM for patients with ischemic stroke represents a practical update to existing PREMs. The findings support its feasibility, as reflected by the 60% response rate, and provide preliminary evidence of its reliability. Further evaluation of the survey's psychometric properties, including patient-led validation, is required before general implementation can be considered.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149102770","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":"Vestibular rehabilitation in unilateral/bilateral vestibular hypofunction: a systematic review.","authors":"Ismail A Ibrahim, Nada Khalid Asar, Mennatallah M Saleh, Mentalla A Elmoasry, Omar Al-Azzawi, Abdalla A Elmansoury, Ehab N Sabry, Hamsah El Ahmad, Başar Öztürk, Baha Naci","doi":"10.1007/s13760-026-03195-6","DOIUrl":"https://doi.org/10.1007/s13760-026-03195-6","url":null,"abstract":"<p><strong>Objective: </strong>The purpose of this systematic review was to investigate whether vestibular rehabilitation (VR) can improve balance, symptoms and quality of life in individuals diagnosed with unilateral or bilateral vestibular hypofunction (VH).</p><p><strong>Methods: </strong>The methodology used to conduct this systematic review was based on the PRISMA 2020 guidelines. The first step in the methodology was to conduct a thorough literature search to identify all published studies concerning vestibular rehabilitation and bilateral VH. This search resulted in a total of 509 studies found from six different electronic databases including; PubMed, Scopus, Web of Science, Cochrane Library, Embase and Science Direct; however, to be included in the review randomized controlled trials and prospective interventional studies. Each of the randomised controlled trial's risk of bias was assessed using the Cochrane Risk of Bias 2 (RoB 2) tool.</p><p><strong>Results: </strong>Of the 509 records identified, eight studies comprising 397 participants met the inclusion criteria. Study populations included both male and female patients with unilateral or bilateral VH, presenting in acute or chronic stages. VR was consistently associated with significant improvements in dizziness severity, balance performance, functional mobility, and quality of life, as assessed using validated outcome measures such as the Dizziness Handicap Inventory, Visual Analog Scale, Timed Up and Go, and Berg Balance Scale. Improvements were observed in both intervention and control groups; however, more pronounced improvements were observed in the intervention groups, particularly in studies utilizing virtual reality-based, head-mounted display-assisted, or gaming-supported vestibular rehabilitation programs. Due to heterogeneity in study design, intervention protocols, and outcome measures, quantitative meta-analysis was not feasible.</p><p><strong>Conclusion: </strong>The systematic review suggests VR can be of benefit to patients with both unilateral and bilateral VH. Using technology based and/or virtual reality techniques should provide additive benefits over traditional rehabilitation techniques with respect to balance, dizziness severity, and functional outcome measures.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149101741","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":"Comparative study of Parkinson's disease phenotypes in homozygous and heterozygous LRRK2-G2019S mutation carriers.","authors":"Youssef Abida, Ikram Sghaier, Alya Gharbi, Amira Souissi, Mohamed Elloumi, Amel Atrous, Amina Gargouri, Imen Kacem, Riadh Gouider","doi":"10.1007/s13760-026-03203-9","DOIUrl":"https://doi.org/10.1007/s13760-026-03203-9","url":null,"abstract":"<p><strong>Background: </strong>The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is a common genetic cause of Parkinson's disease (PD) and a founder variant in the Tunisian population. However, the clinical impact of the homozygous form remains unclear.</p><p><strong>Objectives: </strong>Assess the clinical impact of both homozygous and heterozygous LRRK2-G2019S mutations in Tunisian PD-patients.</p><p><strong>Methods: </strong>A retrospective longitudinal study was carried out in the Neurology Department of Razi-University-Hospital, Tunisia. All participants were genotyped for the LRRK2-G2019S mutation through direct sequencing of exon-41 of the LRRK2 using Sanger sequencing. In addition, all cases were screened for the most common GBA1 variants (p.E326K, p.T369M, p.N370S, and p.L444P) using the appropriate laboratory techniques. Patients were evaluated based on baseline clinical features and disease progression using validated motor and non-motor assessment tools.</p><p><strong>Results: </strong>We included 22 homozygous and 44 heterozygous LRRK2-G2019S PD patients, matched for age at onset, gender, and disease course. We identified two carriers of the GBA-L444P mutation and one carrier of the N370S mutation, all in the heterozygous state, distributed across both the homozygous and heterozygous LRRK2-G2019S subgroups.Our results demonstrate that significant motor differences emerge between the two groups between 3 and 8 years (p = 0.0019 at 3-5 years of disease duration and p = 0.007 at 6-8 years of disease evolution). However, as PD progresses beyond this period, the clinical trajectories of both groups meet, resulting in a similarly presentation at later stages after 9-years.</p><p><strong>Conclusion: </strong>Significant divergence in motor impairment emerged mid-course in homozygous patients but diminished in later stages, with both groups converging in motor outcomes during the final phase of the disease.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149068836","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":"Ambroxol in Gaucher disease and GBA1-related Parkinson disease: an updated systematic review.","authors":"Patryk Lipiński, Aleksandra Jezela-Stanek, Anna Tylki-Szymańska","doi":"10.1007/s13760-026-03202-w","DOIUrl":"https://doi.org/10.1007/s13760-026-03202-w","url":null,"abstract":"<p><strong>Background: </strong>Ambroxol (ABX) is a central nervous system (CNS)-penetrant compound that can increase glucocerebrosidase activity and has been investigated in Gaucher disease (GD) and GBA1-related Parkinson disease (GBA1-PD).</p><p><strong>Methods: </strong>This PRISMA 2020 systematic review and narrative synthesis searched PubMed/MEDLINE, Europe PMC, SSRN and ClinicalTrials.gov through 19 August 2026, with an additional Web of Science Core Collection search performed during revision on 14 September 2026, without restrictions on date, language or publication status. Two reviewers independently selected studies, extracted data and assessed risk of bias using design-specific tools. Substantial clinical and methodological heterogeneity precluded meta-analysis RESULTS: Of 149 records in the original searches, 137 were screened, 41 full texts were assessed and 20 clinical outcome reports were included. The additional Web of Science search retrieved 50 records and did not identify further clinical outcome reports. Evidence in GD consisted mainly of small, uncontrolled and sometimes overlapping reports. Biochemical and neurological improvements were described in selected patients, but outcome definitions and functional responses varied. In GBA1-PD, conclusions remain provisional because the AMBITIOUS results are available only as a non-peer-reviewed preprint and did not show disease modification. Evidence on the safety of chronic high-dose treatment is limited.</p><p><strong>Conclusions: </strong>Biomarker changes alone do not establish clinical efficacy. ABX remains an off-label, investigational treatment in GD and GBA1-PD, and no GBA1 genotype or functional assay currently defines a validated indication.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149068831","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":"Association of antiplatelet and anticoagulant use history with 30-day outcomes after lumbar puncture: a population-based retrospective study.","authors":"Jinpyo Hong, David R Hallan, Mason T Stoltzfus, Kunal Koka, Manuel Bita, David Millar, Kyle Schantz, Andrea Shehaj, Naomi B Gizaw, Elias B Rizk","doi":"10.1007/s13760-026-03197-4","DOIUrl":"https://doi.org/10.1007/s13760-026-03197-4","url":null,"abstract":"<p><strong>Objective: </strong>The safety of lumbar puncture in patients with a history of anticoagulant or antiplatelet use remains incompletely characterized. This study evaluated the coded occurrence of blood patch, paralysis, and spinal decompression within 30 days of lumbar puncture using a retrospective database.</p><p><strong>Methods: </strong>TriNetX, a database that houses clinical information from multiple healthcare entities, was used to carry out retrospective data collection and analysis. Data from patients with a history of antiplatelet use and anticoagulant use were collected separately. The timeline for outcomes of blood patch, paralysis, and spinal decompression started on the day of the first lumbar puncture and ended on the 30th day after the procedure. Propensity score matching was followed by statistical risk analyses.</p><p><strong>Results: </strong>A total of 13,310 patients were identified after propensity score matching for both lumbar puncture patients with antiplatelet use and lumbar puncture patients without antiplatelet, anticoagulant, heparin, or low-molecular-weight heparin use. Blood patch (OR [95% CI], 0.705 [0.563-0.882]) showed lower odds of association, while paralysis (OR [95% CI], 1.404 [1.097-1.798]) and spinal decompression (OR [95% CI], 2.225 [1.183-4.185]) showed greater odds of association; all were statistically significant. The corresponding absolute risk differences were 0.3% for paralysis and 0.1% for spinal decompression. A total of 25,788 patients were identified for both lumbar puncture patients with anticoagulant use and those without blood-thinner use after propensity score matching. Blood patch (OR [95% CI], 0.394 [0.332-0.467]) and spinal decompression (OR [95% CI], 0.659 [0.389-1.115]) showed lower odds of association, while paralysis (OR [95% CI], 1.154 [0.943-1.414]) showed greater odds of association; only blood patch was statistically significant.</p><p><strong>Conclusions: </strong>Among patients with a history of antiplatelet use, coded paralysis and spinal decompression within 30 days of lumbar puncture were associated with higher odds, although the absolute risk differences were small at 0.3% and 0.1%, respectively. Anticoagulant use history was not significantly associated with either paralysis or spinal decompression. Blood patch use was significantly lower in both exposure analyses. Since the TriNetX database cannot establish whether these coded outcomes were caused by lumbar puncture, these associations should be interpreted cautiously and require chart-level confirmation.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149068839","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":"Hemimegalencephaly with accelerated myelination in the affected hemisphere.","authors":"Laura Manuela Olarte Bermúdez, Juan Carlos Mora Vergara, Oscar Torres","doi":"10.1007/s13760-026-03151-4","DOIUrl":"https://doi.org/10.1007/s13760-026-03151-4","url":null,"abstract":"<p><p>Hemimegalencephaly is an uncommon malformation of cortical development characterized by congenital enlargement and dysplasia of part or all of one cerebral hemisphere. It usually presents in early life with developmental delay, hemiparesis, and drug-resistant seizures. We report the case of a 7-month-old boy with recurrent seizures beginning in the neonatal period. Electroencephalography demonstrated slow spike-and-wave discharges arising from the left frontotemporal region and propagating to the ipsilateral centroparietal region. Brain MRI showed enlargement of the left cerebral hemisphere, thickened and dysmorphic gyri predominantly in the frontal lobe, ventricular asymmetry, and an aberrant left midsagittal fiber tract located beneath the corpus callosum. The involved white matter showed visually advanced myelination for age, manifested by relatively increased T1-weighted signal and decreased T2-weighted signal compared with the expected myelination pattern at 7 months. These findings are consistent with left hemimegalencephaly with accelerated myelination. This case illustrates a recognizable MRI pattern that may support early diagnosis in infants with epilepsy, while emphasizing that the relationship between epileptic activity and accelerated myelination remains associative rather than causal in a single-patient report.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149029469","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}