Revista de neurologia最新文献

{"title":"Developmental and Epileptic Encephalopathy Due to a Novel <i>ARHGEF9</i> Deletion Variant: Case Series of Two Siblings.","authors":"Jie Li, Guangshun Han, Yizhi Wei","doi":"10.31083/RN46598","DOIUrl":"10.31083/RN46598","url":null,"abstract":"<p><strong>Introduction: </strong>Developmental and epileptic encephalopathy (DEE) is a group of severe neurological disorders characterized by early-onset epilepsy and developmental delay, often caused by genetic variants. Cdc42 Guanine Nucleotide Exchange Factor 9 (<i>ARHGEF9</i>) gene variants have been linked to DEE, yet novel variants and their phenotypic presentations remain incompletely characterized.</p><p><strong>Clinical cases: </strong>Herein, we describe two siblings with DEE caused by a novel deletion variant in the <i>ARHGEF9</i> gene. Both patients presented with early-onset epilepsy and developmental delay. Whole-exome sequencing identified a hemizygous c.1037_1045del variant in the <i>ARHGEF9</i> gene (NM_015185.2) in both brothers, which is reported here for the first time. Notably, the two siblings exhibited a marked difference in outcomes: the elder brother achieved good seizure control with anti-epileptic drugs, while the proband, despite multidrug therapy and vagus nerve stimulation (VNS), exhibited a limited response and continued to experience frequent seizures.</p><p><strong>Conclusions: </strong>These cases expand the genotypic spectrum of <i>ARHGEF9</i>-related disorders and underscore the intrafamilial phenotypic variability associated with this gene. These findings emphasize the significance of early genetic testing for establishing a diagnosis, assessing prognosis, and facilitating genetic counseling.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 5","pages":"46598"},"PeriodicalIF":0.6,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13221672/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148056450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mapping the Evidence: Central Sleep Apnea Syndromes During Sleep and Stroke-A Scoping Review.","authors":"Karol Uscamaita, Imán Yazbeck Morell, María-José Sánchez-López, Marta García Pla, Olga Parra Ordaz, Adrià Arboix","doi":"10.31083/RN49726","DOIUrl":"10.31083/RN49726","url":null,"abstract":"<p><strong>Background: </strong>Central sleep apnea (CSA) syndromes and acute ischemic stroke are linked by a complex, bidirectional relationship. After ischemic stroke, CSA prevalence rises markedly compared with the general population, in which it is usually below 1%. In stroke cohorts, CSA frequencies of around 8%-12% have been reported, although estimates are heterogeneous owing to differing diagnostic criteria. In this scoping review we map the evidence on CSA syndromes during sleep in patients with stroke, summarizing prevalence, mechanisms, clinical correlates, and prognostic implications.</p><p><strong>Methods: </strong>The Medline (PubMed), Scopus, Cochrane Reviews, and Web of Science databases were searched for observational and interventional studies published from inception to August 31 2025 in English and Spanish assessing CSA syndromes in adults with ischemic stroke. Two reviewers independently screened records, selected studies, and extracted data on study design, stroke characteristics, CSA definitions, comorbidities, and clinical outcomes; disagreements were resolved by consensus with a third reviewer.</p><p><strong>Results: </strong>Fifty-five studies including several thousand patients with ischemic stroke were identified. Across studies, post-stroke CSA prevalence ranged from approximately 8% to 12%, clearly exceeding rates in the general population. CSA was often reported in the absence of overt cardiac comorbidities, and patients with CSA tended to have lower body mass index and fewer classic cardiovascular risk factors than those typically described with obstructive sleep apnea. Pathophysiological analyses emphasized disturbed central ventilatory control after cerebral ischemia; however, several studies did not show a consistent association between specific lesion locations and CSA occurrence, suggesting that stroke may unmask CSA in predisposed individuals rather than cause it solely through focal damage. In older adults, CSA appeared as an independent correlate of ischemic stroke and a potential marker of silent cerebral injury or impaired central respiratory regulation.</p><p><strong>Conclusions: </strong>Available evidence indicates that CSA syndromes during sleep are substantially more frequent in patients with ischemic stroke than in the general population and may be associated with increased cerebrovascular risk and subclinical brain injury. Heterogeneity in CSA definitions, diagnostic protocols, and outcome measures limits firm conclusions. Standardized criteria and adequately powered prospective studies are needed to clarify the mechanistic and prognostic role of CSA in stroke.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 5","pages":"49726"},"PeriodicalIF":0.6,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13221676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148056480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Correlation Between and Variability of Three Balance Scales in the Assessment of Balance Function in Patients With Ataxia.","authors":"Mei Ye, Shengnan Zhang, Dan Li, Baoji Li, Zhouyao Hu","doi":"10.31083/RN48265","DOIUrl":"10.31083/RN48265","url":null,"abstract":"<p><strong>Background: </strong>Spinocerebellar ataxia (SCA) is a rare group of hereditary degenerative disorders with major symptoms such as unsteady gait, dysarthria, and finger-nose instability. At present, the Berg Balance Scale (BBS) is a widely utilized balance assessment tool for SCA patients, exhibiting high reliability. The objective of this study was to ascertain whether the Semans Scale and the Balance Coordination Test can also be utilized for balance assessment in SCA patients.</p><p><strong>Methods: </strong>A total of 32 patients with SCA who had been diagnosed according to previously reported molecular criteria were recruited between 2021 and 2022. In addition, all patients completed assessments for all three scales.</p><p><strong>Results: </strong>The results of the study demonstrated a moderate positive correlation between the BBS and both the Semans Scale and Balance Coordination Test scores (BBS versus Semans: r = 0.568, <i>p</i> < 0.001; BBS versus Balance Coordination Test: r = 0.625, <i>p</i> < 0.001). However, the Wilcoxon signed-rank test showed statistically significant differences between BBS and both Semans Scores (Z = -2.955, <i>p</i> = 0.003) and Balance Coordination Test scores (Z = -3.666, <i>p</i> < 0.001).</p><p><strong>Conclusions: </strong>The Semans Scale and Balance Coordination Test reflect the balance function of SCA patients to a certain extent and can be used as valid complements to the BBS, providing additional information for clinical treatment and rehabilitation.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 5","pages":"48265"},"PeriodicalIF":0.6,"publicationDate":"2026-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13221673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148056590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Peripheral Neuropathy: A Phenotype-Driven Review for Diagnosis and Management.","authors":"Tomoo Yuba, Ali Dabbagh, A Sassan Sabouri","doi":"10.31083/RN48384","DOIUrl":"10.31083/RN48384","url":null,"abstract":"<p><p>The purpose of this narrative review is to provide a clinic-ready synthesis of contemporary concepts in peripheral neuropathy, spanning epidemiology, diagnosis, and treatment, with emphasis on high-yield advances applicable to daily practice. The authors integrate pragmatic tools-including a diagnostic algorithm, suggested initial laboratory panels, and commonly used outcome measures-to support clinical decision-making. However, this review is intended as a clinic-oriented synthesis rather than a formal practice guideline. Peripheral neuropathy can be systematically categorized into seven pathophysiologic phenotypes-(1) distal \"dying-back\" axonopathy, (2) neuronopathy (ganglionopathy), (3) demyelinating neuropathies, (4) small-fiber neuropathy, (5) autonomic neuropathy, (6) ischemic/infiltrative/inflammatory axonopathies, and (7) focal compressive/entrapment neuropathies. An organized evaluation and management around this phenotype-first structure, combined with a structured stepwise escalation algorithm (from bedside pattern recognition to targeted laboratory testing, electrodiagnostics, selective imaging, small-fiber assessment, and immune work-up when indicated), bridges fragmented evidence into a clinic-ready decision-support framework that improves diagnostic precision, rational test utilization, and therapeutic alignment. Beyond optimizing pharmacologic care, neuromodulation may expand options in carefully selected patients. For painful diabetic peripheral neuropathy (DPN), high‑frequency (10 kHz) spinal cord stimulation (SCS) has been evaluated in randomized comparative studies against optimized medical management and has been associated with sustained pain reduction and functional improvement through 24 months in follow‑up reports, supporting consideration in medication‑refractory cases where access and patient factors permit. Ultrasound ‑guided pulsed radiofrequency (PRF)-a nondestructive, field‑based neuromodulation that limits tip temperature to <42 °C-has been studied in small randomized trials and observational cohorts for focal entrapment‑type neuropathic pain after positive diagnostic blocks; reported benefits are generally short‑ to mid‑term with heterogeneous protocols, so certainty varies by indication. For hereditary transthyretin amyloid polyneuropathy (ATTRv), disease‑modifying approaches-including nucleic acid-based therapies-are increasingly integrated into contemporary care. Overall, these developments support earlier pattern recognition, more precise phenotyping, and rational escalation while using standardized outcome measures to track response.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 4","pages":"48384"},"PeriodicalIF":0.6,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13129557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic Review of Autism in Women: Invisibilised Profiles and Gender Bias.","authors":"Ana Muiño Tato","doi":"10.31083/RN49367","DOIUrl":"10.31083/RN49367","url":null,"abstract":"<p><strong>Introduction: </strong>Autism spectrum disorder (ASD) shows marked clinical heterogeneity and a pronounced sex disparity in diagnosis, with male-to-female ratios of up to 4.6:1 in the Spanish educational context, suggesting potential systematic under-identification in females. This systematic review critically examines gender bias in ASD diagnosis, focusing on females, and assesses whether current diagnostic criteria adequately capture Level 1 presentations.</p><p><strong>Method: </strong>A literature search was conducted in December 2025 across American Psychological Association's database (APA) PsycInfo, Dialnet, PsicoDoc and Education Resources Information Center (ERIC), using Population, Exposure, Comparator, Outcome (PECO) and Patient, Intervention, Comparison, Outcome (PICO) frameworks. Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) process, 26 studies (2015-2025) were included, encompassing observational, psychometric, technological, quasi-experimental and qualitative designs. Overall methodological quality was good to very good (mean CRF-QS = 15.7), and risk of bias was predominantly low.</p><p><strong>Results: </strong>Findings indicate consistent diagnostic inequities: delayed diagnosis in girls, reduced sensitivity of standard instruments to less externalizing phenotypes, the role of social camouflaging, and moderating effects of comorbidities and contextual factors.</p><p><strong>Conclusion: </strong>Diagnostic bias appears multifactorial and calls for gender-sensitive, multi-method and intersectional approaches to ensure equitable access to diagnosis and support.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 4","pages":"49367"},"PeriodicalIF":0.6,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13129553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Implementation of a Program to Enhance Cognitive Reserve in Patients With Multiple Sclerosis (EM Reserva Program).","authors":"Miriam Ben-Yelun Insenser, Rocío Lopez Ruiz, Mónica Borges Guerra, Elvira Vázquez Domínguez, Eloisa Rubio Perez, Sara Madueño Eichau","doi":"10.31083/RN48330","DOIUrl":"10.31083/RN48330","url":null,"abstract":"<p><strong>Background: </strong>Cognitive reserve (CR) may help mitigate cognitive decline in people with multiple sclerosis (PwMS); however, few interventions have targeted CR enhancement, and none have focused on individuals without baseline cognitive impairment. The EM Reserva program is a multimodal intervention that combines cognitive leisure activities, aerobic exercise, and structured social engagement and is designed to strengthen CR in individuals with relapsing-remitting MS (RRMS).</p><p><strong>Methods: </strong>This pragmatic, single-center, observer-blinded randomized controlled trial included PwMS aged 18-55 years with RRMS and no cognitive impairment. Participants were randomized in a 1:1 ratio to either the EM Reserva program or usual cognitive care. Outcomes were assessed at baseline and at 6-month and 12-month time points. The primary endpoint was the change in Symbol Digit Modalities Test (SDMT) scores at 6 months. Secondary outcomes included additional neuropsychological measures, Modified Fatigue Impact Scale-5 (MFIS-5), Perceived Deficits Questionnaire-5 (PDQ-5), and Multiple Sclerosis Quality of Life‑54 (MSQOL-54). Analyses followed a modified intention-to-treat approach.</p><p><strong>Results: </strong>Forty-five participants completed follow-up. At 6 months, the EM Reserva group showed a significant improvement in SDMT scores compared with controls (mean difference -4.23, <i>p</i> < 0.022) and higher Controlled Oral Word Association Test (COWAT) scores. These cognitive gains were not sustained at 12 months. Fatigue improved in both groups at 6 months but remained significantly lower only in the EM Reserva group at 12 months. No between-group differences were observed in PDQ-5, MSQOL-54, or other neuropsychological measures.</p><p><strong>Conclusion: </strong>The EM Reserva program produced short-term improvements in processing speed and verbal fluency in cognitively preserved PwMS, along with sustained reductions in fatigue. However, cognitive benefits were not maintained at 12 months, and subjective cognitive functioning remained unchanged. These findings suggest that multimodal CR-oriented interventions may offer temporary cognitive advantages, but long-term maintenance strategies are likely required to sustain gains.</p><p><strong>Clinical trial registration: </strong>No: NCT05546424. https://clinicaltrials.gov/study/NCT05546424.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 4","pages":"48330"},"PeriodicalIF":0.6,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13129555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Comunicaciones LXI Reunión Anual de la SENFC Granada, 29 a 31 de Octubre de 2025].","authors":"","doi":"10.31083/RN50865","DOIUrl":"10.31083/RN50865","url":null,"abstract":"","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 4","pages":"50865"},"PeriodicalIF":0.6,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13129554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy and Neurophysiological Mechanisms of 10 Hz Repetitive Transcranial Magnetic Stimulation for Post-Stroke Dysphagia: A Randomized Controlled Trial.","authors":"Bangqiang Hou, Ke Pan, Rong Zhang, Xiaojuan Chen, Yizheng Li, Yinxu Wang, Yulei Xie","doi":"10.31083/RN49912","DOIUrl":"10.31083/RN49912","url":null,"abstract":"<p><strong>Background: </strong>Post-stroke dysphagia (PSD) is a common and serious complication, yet conventional rehabilitation therapies have limited efficacy. Repetitive transcranial magnetic stimulation (rTMS) is a promising treatment, but its optimal intervention strategy remains undetermined.</p><p><strong>Methods: </strong>Seventy-five PSD patients were randomly assigned in a 1:1:1 ratio to the sham rTMS group, affected rTMS group and bilateral rTMS group. All groups received the corresponding rTMS intervention and conventional rehabilitation therapy. Swallowing function was assessed at baseline (T0) and after treatment (T1) using the standardized swallowing assessment (SSA), penetration-aspiration scale (PAS), yale pharyngeal residue severity rating scale (YPR-SRS), and suprahyoid motor evoked potentials (MEP). Adverse reactions and dropouts were recorded.</p><p><strong>Results: </strong>After treatment, the SSA scores of all three groups were significantly improved. Bilateral rTMS showed significantly greater improvement in SSA and a higher treatment response rate (77.27%) compared to both the sham group and the affected rTMS group (<i>p</i> < 0.001). Mixed-effects model and intention-to-treat analyses both supported the optimal efficacy of bilateral rTMS (interaction effect <i>p</i> < 0.01). Regarding swallowing safety (PAS), the bilateral rTMS group's score was significantly lower than that of the sham group (<i>p</i> = 0.017). In terms of pharyngeal residue clearance (YPR-SRS), the bilateral rTMS group showed significantly greater improvement in the piriform sinuses compared to the other two groups, and superior improvement in the vallecula compared to the sham group (<i>p</i> < 0.05). After treatment, MEP amplitudes increased in all groups. Notably, only the bilateral rTMS group not only significantly increased MEP amplitudes on both sides (<i>p</i> < 0.01) but also significantly shortened the latency on the contralesional side (<i>p</i> = 0.046). The bilateral rTMS group achieved a \"large effect size\" in improving SSA scores, increasing MEP amplitudes, and shortening latency on the contralesional side, with the SSA effect size (D = 2.339) far exceeding that of the other groups. All treatment regimens were well-tolerated, with only 5 cases of transient scalp discomfort reported and no serious adverse events.</p><p><strong>Conclusions: </strong>Conventional rehabilitation combined with 10 Hz rTMS targeting the swallowing cortex can effectively improve swallowing function in PSD patients. Bilateral rTMS is a superior strategy. Its therapeutic advantage may stem from the synergistic modulation of bilateral cortical excitability and neural conduction efficiency, providing a better multi-target neuromodulation option for clinical practice.</p><p><strong>Clinical trial registration: </strong>No: ChiCTR2300068730. https://www.chictr.org.cn/showproj.html?proj=182568.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 4","pages":"49912"},"PeriodicalIF":0.6,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13129558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of MOCA Cognitive Domains and Serum Biomarkers With Anxiety Disorders in Elderly Men With Cognitive Impairment: A Cross-Sectional Analysis.","authors":"Xiao Chen, Tong Li, Jiawei Zhang, Wei Zhou, Jiayun Dai","doi":"10.31083/RN48908","DOIUrl":"10.31083/RN48908","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Anxiety symptoms in elderly patients with cognitive impairment (CI) often reflect shared neurobiological processes rather than distinct psychiatric disorders. Current diagnostic approaches lack objective biomarkers for early identification. This study investigated the association between serum biomarkers and anxiety disorder status in elderly men with CI and to evaluate the exploratory discriminative ability of cognitive domains and biomarker profiles in differentiating CI patients with and without comorbid anxiety.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This cross-sectional retrospective study analyzed 86 elderly male CI patients (Group A: CI alone, n = 41; Group B: CI with anxiety, n = 45) at Jiangsu Rongjun Hospital (June-December, 2024). Anxiety disorder diagnosis was established through structured clinical interviews based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria conducted by two independent psychiatrists, with the Hamilton Anxiety Scale (HAMA) serving as an initial severity screening instrument. The Montreal Cognitive Assessment (MOCA) was used to evaluate cognitive function. Enzyme-linked immunosorbent assay (ELISA) was used to measure serum Tau protein (Tau), β-amyloid (Aβ), visinin-like protein 1 (VILIP-1), malondialdehyde (MDA), tumor necrosis factor-α (TNF-α), and interleukin-6 (IL-6); reverse transcription-polymerase chain reaction (RT-PCR) quantified microRNA-34c (&lt;i&gt;MiR-34c&lt;/i&gt;). Patients with acute inflammation (C-reactive protein [CRP] &gt;10 mg/L) were excluded. Bonferroni correction was used to address multiple comparisons across 25 simultaneous tests, and multivariate regression analysis was controlled for demographic and clinical confounders. Receiver operating characteristic (ROC) analysis was used to determine the discriminative ability.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Group B showed worse cognitive performance across the MOCA domains, with attention (area under the curve [AUC] = 0.738) and delayed recall (AUC = 0.742) demonstrating the strongest discriminative ability. Biomarker analysis revealed elevated Tau (AUC = 0.957), MDA (AUC = 0.941), and VILIP-1 (AUC = 0.914) in anxiety patients. Within-group analyses showed that anxiety severity correlated negatively with MiR-34c and positively with Tau, Aβ, MDA, IL-6, and VILIP-1. Under the Bonferroni-adjusted threshold (&lt;i&gt;p&lt;/i&gt; &lt; 0.002), only MDA in Group B (r = 0.478, &lt;i&gt;p&lt;/i&gt; = 0.001) and MiR-34c in Group B (r = -0.523, &lt;i&gt;p&lt;/i&gt; &lt; 0.001) remained significant. Multivariate analysis identified these factors as independently associated with the outcome after controlling for demographics and comorbidities. However, given the substantial baseline imbalances between the groups, these associations should be interpreted with caution.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Combined cognitive assessment (attention, delayed recall) and serum biomarkers (Tau, MDA, VILIP-1, MiR-34c) demonstrate promising discriminative ","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 4","pages":"48908"},"PeriodicalIF":0.6,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13129556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147779685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Acute Flacid Paralysis and Encephalitis: A Deadly Combination. Report of the Latest Case of Human Rabies in Colombia: A Reminder of a Preventable Enemy].","authors":"Francisco Aureliano García Jimenez, Paula Andrea Valencia-Rey, Kevin Tutalchá Oviedo, Santiago Mejía López, Juan Carlos Arango Viana, Juan David Cuartas Ramírez","doi":"10.31083/RN49292","DOIUrl":"10.31083/RN49292","url":null,"abstract":"<p><strong>Introduction: </strong>In countries with a low incidence of human rabies, this lethal virus is rarely considered in the differential diagnosis of acute flaccid paralysis.</p><p><strong>Clinical case: </strong>A young woman presented with fever and progressive weakness that evolved into flaccid quadriparesis, associated with neuropsychiatric symptoms, multiple cranial neuropathy, and dysautonomia. The complementary tests and the unusual reflexes that accompanied the diagnosis of brain death are described. The diagnosis was confirmed postmortem by compatible histopathological findings.</p><p><strong>Conclusions: </strong>Human rabies should be considered in cases of flaccid paralysis with encephalitis due to its implications for preventing further deaths through public health measures.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"81 3","pages":"49292"},"PeriodicalIF":0.6,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13036786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147582403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}