Super-refractory status epilepticus (SRSE) is a life-threatening neurological emergency characterized by persistent seizures despite anesthetic therapy, with high associated mortality and limited treatment options. Transcranial direct current stimulation (tDCS) has emerged as a potential neuromodulatory intervention in refractory epilepsy; however, evidence in SRSE remains limited. This study aimed to evaluate the feasibility, safety, and exploratory clinical response associated with adjunctive tDCS in patients with SRSE. In this investigator-initiated prospective single-center interventional case series, 20 adult patients with convulsive SRSE admitted to a tertiary referral center between 2021 and 2025 received adjunctive cathodal tDCS (2 mA for 20 min) applied bilaterally over temporal–frontal regions while standard medical therapy was continued. Clinical and electroencephalographic (EEG) assessments were performed 30 min before and after stimulation. Feasibility and safety were primary outcomes, while short-term clinical response was assessed as an exploratory endpoint. Written informed consent for study participation and publication of anonymized clinical data and EEG recordings was obtained from legally authorized representatives prior to enrollment, and the trial was registered in the Iranian Registry of Clinical Trials (IRCT20230209057371N1; retrospectively registered on October 21, 2023). Four patients (20
Pre-stroke frailty may influence recovery after acute stroke, but prospective evidence from low- and middle-income countries remains limited. We investigated the association between pre-stroke frailty and 30-day functional outcome among Vietnamese adults with acute stroke. This prospective study enrolled 188 adults aged ≥ 50 years with acute stroke at the National Geriatric Hospital, Vietnam. Pre-stroke frailty was assessed using the Clinical Frailty Scale (CFS 1–4 non-frail; 5–9 frail). The primary outcome, 30-day functional status (modified Rankin Scale, mRS 0–6), was analysed using a Bayesian partial proportional-odds cumulative-logit model, with frailty’s effect allowed to vary across mRS cut-points and other covariates constrained to proportional effects. Sensitivity analyses included a bias-reduced generalized ordinal model and binary logistic regression. Of 188 participants, 163 (86.7
Wilson disease (WD)-related dysphagia may lead to aspiration, pulmonary infection and malnutrition, but it is often recognized late in routine care. This study evaluated the value of routine clinical test markers, magnetic resonance imaging (MRI) topography and their integration for earlier identification of dysphagia risk in WD. We retrospectively included 318 patients with WD from the First Affiliated Hospital of Anhui University of Chinese Medicine between September 2019 and January 2026, including 130 patients with dysphagia (40.9
Schwartz-Jampel Syndrome Type 1 (SJS1) is a rare autosomal recessive disorder characterized by myotonia and distinctive facial features, such as blepharospasm and pursed lips. The condition results from biallelic variants in HSPG2, which are usually inherited from both parents. So far, de novo or mosaic HSPG2 variants have not been reported. An 11-year-old boy with no family history presented with myotonia and gait instability. Laboratory tests showed elevated creatine kinase levels, and electromyography revealed neurogenic myotonic discharges. Whole-exome sequencing trio was performed, and identified three HSPG2 variants in the patient: c.7438 C > T (p.Arg2480Trp), c.9145del (p.Ala3049GlnfsTer56), and c.12899G > T (p.Arg4300Leu). Long-read sequencing of the patient confirmed that c.7438 C > T and c.12899G > T were in cis on one allele, while c.9145del was on the other allele, establishing a compound heterozygous genotype. Retrospective analysis detected low-level maternal mosaicism for c.9145del, which explained the initial segregation discrepancy. This case is the first documentation of a de novo and a potential mosaic variant in HSPG2. It highlights the limitations of conventional sequencing in detecting mosaic variants and the utility of long-read sequencing in resolving challenging inheritance patterns, underscoring the growing value of advanced sequencing technologies in rare disease diagnostics.
Multiple sclerosis is a chronic demyelinating disease causing atrophy in whole brain and deep gray matter structures resulting in physical and cognitive disability. In this study, we investigated the size of ITA in patients with MS and evaluated the relationship between the size of ITA and CCI, EDSS score and disease duration. The subjects aged 18 to 60 years who had 3D FLAIR images were included to this retrospective study. Patient group consisted of 104 subjects with a diagnosis of MS and the control group consisted of 59 subjects with normal imaging findings. Two operators independently reviewed midsagittal 3D FLAIR images to detect and measure the ‘surface area’, ‘ap’ and ‘cc’ size of ITA and calculated CCI. Clinical data including MS subtype, EDSS score and disease duration were evaluated in patients. P < 0.05 was considered significant. While ITA was present in all subjects of control group, it was absent in 19 MS patients (19/104;
Levetiracetam (LEV) is widely used in pediatric epilepsy. However, prospective pediatric data on immunological changes during LEV treatment are limited and inconsistent. We measured immunological and hematological biomarkers before and after six months of LEV monotherapy in children with epilepsy. In this prospective observational cohort study, 52 children aged 2–15 years with newly diagnosed epilepsy were enrolled after starting LEV monotherapy by the treating clinician. Blood samples were collected before treatment and at six months to measure total IgG and its subclasses, IgA, IgM, CD4 + and CD8 + T-cell percentages, anti-tetanus IgG, and white blood cell count. Our paired analysis consists of thirty children with samples available at both time points. Immunoglobulin concentrations were also analyzed as age-adjusted Z-scores. Of the 52 enrolled children (42.3
South Asians experience stroke at a younger age than Western populations. There is limited access to advanced neuroimaging and neuro-interventional services. Prospective data from South Asia on outcomes after intravenous thrombolysis are scarce. We aimed to describe the clinical characteristics, treatment, complications and longitudinal functional outcomes of patients treated with intravenous thrombolysis for acute ischaemic stroke in Sri Lanka. We conducted a prospective, single-centre cohort study of consecutive patients who received intravenous thrombolysis for acute ischaemic stroke at the Institute of Neurology, National Hospital of Sri Lanka, from July 2023 to June 2025. Neurological deficit (National Institutes of Health Stroke Scale [NIHSS]), disability (modified Rankin Scale [mRS]) and activities of daily living (Barthel Index) were assessed at presentation, 12 h, 24 h, discharge, 30 days and 90 days. We analysed clinical characteristics, treatment-related complications and mortality. We used multivariable logistic regression to identify predictors of death. We recruited 193 patients (mean age 59.9 ± 11.6 years). Hypertension (61.5
Glioma during pregnancy is uncommon, and evidence regarding the optimal timing for tumor resection and whether to continue the pregnancy is limited. Advances in the pathology of gliomas have improved clinicians’ ability to assess prognosis. All three patients were diagnosed with glioma during the second trimester and presented with definite surgical indications. Case 1 underwent emergency surgery for impaired consciousness and achieved gross total resection (100
In conventional rehabilitation, upper-limb recovery in patients with stroke is slow and limited. Motor Imagery-Based Brain-Computer Interface (MI-BCI) may promote cortical plasticity by translating brain signals into commands to control external devices; however, the effects of different intervention approaches remain unclear. This study followed the PRISMA 2020 statement and searched PubMed, EBSCO, Web of Science, Scopus, the Cochrane Library, and the China National Knowledge Infrastructure (CNKI) for randomised controlled trials (RCTs) reporting outcomes related to upper-limb function or activities of daily living. Risk of Bias 2 (RoB 2) and Confidence in Network Meta-Analysis (CINeMA) were used to assess risk of bias and confidence in the evidence. Network meta-analysis was conducted using the network and mvmeta modules in Stata 18.0 to assess heterogeneity, network consistency, robustness of the results, and publication bias. A total of 49 studies involving 2,209 participants and 13 intervention strategies were included. For the Fugl-Meyer Assessment of the Upper Extremity (FMA-UE), interventions showing relatively favourable effects included MI-BCI combined with transcranial ultrasound stimulation and functional electrical stimulation (FES) (MD = 17.65, 95
Myasthenia gravis (MG) is an autoimmune neuromuscular junction disorder primarily affecting skeletal muscles. Although myocardial involvement is rare, MG-associated myocarditis can be life-threatening and may be overlooked because symptoms such as dyspnea and fatigue overlap with myasthenic exacerbation. Recognition of clinical and immunological features associated with cardiac involvement is therefore important for early diagnosis and appropriate management. We report a case of MG complicated by myocarditis in a 74-year-old woman with a chronic course and acute exacerbation. She presented with a 2-year history of ptosis with acute worsening over the preceding 20 days, including dysphagia, limb weakness, and respiratory distress. Cardiac biomarkers were mildly elevated (peak troponin I 2.19 µg/L, creatine kinase-MB (CK-MB) 30 µg/L, N-terminal pro-brain natriuretic peptide (NT-proBNP) 4581 ng/L), echocardiography revealed a reduced left ventricular ejection fraction (42
Most corticospinal tract (CST) fibres decussate at the medullary pyramids, such that supratentorial infarction typically causes contralateral weakness. Markedly asymmetric or absent CST decussation is uncommon and may create unexpected lesion-deficit laterality. We report a patient with an acute left hemispheric infarct and left-sided hemiparesis in whom diffusion tensor imaging (DTI) tractography demonstrated a markedly asymmetric CST configuration consistent with unilateral non-decussation of the left CST. A 65-year-old right-handed man with a 15-year history of hypertension presented 2.5 h after sudden-onset dysarthria and left-sided limb weakness (National Institutes of Health Stroke Scale [NIHSS] score 4). Intravenous tenecteplase (0.25 mg/kg) was administered within 4.5 h of symptom onset on the basis of the clinical diagnosis of acute ischaemic stroke and after exclusion of intracranial haemorrhage on acute neuroimaging. Subsequent MRI showed an acute left periventricular infarct. Because the acute infarct and motor deficit were ipsilateral, DTI tractography was performed after thrombolysis for anatomical clarification. The right CST showed the expected crossing pattern at the medullary pyramids, whereas no identifiable crossing fibres were demonstrated for the left CST, which descended predominantly ipsilaterally; the infarct lay along the reconstructed left CST. The NIHSS score decreased to 2 at discharge (modified Rankin Scale [mRS] score 2). A markedly asymmetric CST configuration consistent with unilateral non-decussation may provide an anatomical explanation for ipsilateral hemiparesis in selected patients with hemispheric stroke. When clinical and imaging laterality are discordant, DTI tractography may be useful for subsequent anatomical clarification but should not delay reperfusion therapy. Tractography findings should be interpreted cautiously and in the context of alternative mechanisms, including prior stroke-related motor reorganisation.
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a distinct inflammatory demyelinating disorder that can occur across the lifespan. Although late adult-onset MOGAD, commonly defined as onset at ≥ 50 years, is increasingly recognised, very late-onset disease beginning at ≥ 70 years remains uncommon and may pose substantial diagnostic challenges because neoplastic, vascular, degenerative, and radiation-related causes are often prioritised in this age group. We report a 79-year-old man with a one-year history of progressive gait disturbance and imbalance. His medical history included hypertension, diabetes mellitus, coronary artery disease, and rectal carcinoma treated with chemoradiotherapy in 2007. Neurological examination revealed mild left lower-limb weakness, hyperreflexia, bilateral Babinski signs, a T6–T10 sensory level, and broad-based gait. Cerebrospinal fluid analysis demonstrated mild pleocytosis (28 cells/µL, 85
This study aimed to assess the prevalence and prognostic value of cognitive motor dissociation (CMD) detected by active task-based electroencephalography (EEG) in a cohort of patients with disorders of consciousness (DoC). In a prospective cohort study, we enrolled 56 consecutive clinically unresponsive patients with acute or chronic brain injury. Patients underwent EEG recording during an active motor imagery task following spoken commands. Functional outcomes were assessed using the Glasgow Outcome Scale-Extended (GOS-E) at 6 months. Ten healthy volunteers served as a control group. Among the 56 unresponsive patients, 6 (10.7
Glioblastoma multiforme (GBM) is a highly aggressive malignancy, characterized by poor prognosis and limited therapeutic options. This study aimed to develop a uridine metabolism–related gene signature for prognostic stratification and explore the potential biological mechanisms underlying GBM progression. Differential expression analysis was performed using The Cancer Genome Atlas (TCGA) dataset to identify genes dysregulated in GBM. Uridine-related differentially expressed genes (UR-DEGs) were obtained by intersecting GBM-associated DEGs with a curated uridine metabolism gene set. A prognostic signature was constructed through univariate Cox regression, random forest, and least absolute shrinkage and selection operator (LASSO) analyses. The prognostic value of the signature was evaluated in an independent Chinese Glioma Genome Atlas (CGGA) cohort. Immune infiltration characteristics, functional enrichment patterns, somatic mutation landscape, and drug sensitivity profiles were compared between high- and low-risk groups. The expression patterns of key genes were further validated in clinical GBM samples using quantitative real-time PCR (RT-qPCR). A total of 72 UR-DEGs were identified and a three-gene prognostic signature comprising UPP1, GALNT11, and PLOD3 were established. This signature effectively stratified patients into high- and low-risk groups with distinct survival outcomes in both both the TCGA training cohort and the CGGA validation cohort. Immune profiling revealed significant different infiltration in macrophages M0, monocytes, and activated natural killer (NK) cells between the two risk groups. Functional enrichment analysis indicated that the signature-related genes were primarily involved in cytokine–receptor interaction and immune-related pathways. Somatic mutation analysis showed that TP53, PTEN, EGFR, and TTN were the most frequently altered genes. Notably, patients in the high-risk group exhibited higher estimated IC50 values for Vorinostat and Daporinad, indicating potential differences in therapeutic sensitivity. RT-qPCR validation confirmed increased expression of UPP1 and PLOD3 and decreased expression of GALNT11 in GBM tissues. We developed and independently validated a uridine metabolism–related prognostic signature based on UPP1, GALNT11, and PLOD3 for GBM. This signature highlights the potential involvement of uridine metabolism in GBM progression and provides a promising framework for prognostic evaluation and further investigation of individualized therapeutic strategies.
Brain parenchymal damage in patients with cerebral venous sinus thrombosis (CVST) is strongly associated with poor prognosis. This study aimed to identify the risk factors for brain parenchymal damage in CVST patients, and establish a nomogram model to predict the likelihood of brain parenchymal damage. This retrospective study enrolled patients diagnosed with CVST who were treated at the First Affiliated Hospital and the Tenth Affiliated Hospital of Guangxi Medical University between January 2014 and August 2020. A total of 112 CVST patients (59 males, mean age: 36.51 ± 14.12) were included, and 59 patients had brain parenchymal damage. Multivariate logistic regression analysis indicated that age (OR = 1.129, 95
Cerebral venous sinus thrombosis (CVST) involving the superior sagittal sinus with associated cerebral infarction is an exceptionally rare neurological complication of hemoglobin S–D disease. The heterogeneity of clinical manifestations, overlapping infective and hematologic features, and dependence on advanced neuroimaging frequently delay diagnosis. Early recognition and targeted therapy are critical to prevent irreversible neurological injury. We report a 19-year-old woman with hemoglobin S–D disease who presented with acute-onset headache, altered sensorium, and behavioral changes. Contrast-enhanced computed tomography and magnetic resonance imaging of the brain, complemented by magnetic resonance venography and angiography, demonstrated thrombosis of the superior sagittal sinus with bilateral frontal lobe venous infarctions. Evaluation for hypercoagulable states was limited because comprehensive thrombophilia testing was unavailable at our institution due to resource constraints. Specifically, lupus anticoagulant, anticardiolipin antibodies, β2-glycoprotein I antibodies, protein C, protein S, antithrombin III levels, factor V Leiden mutation, and prothrombin gene mutation analysis. Therefore, an underlying thrombophilic predisposition cannot be definitively excluded. Nevertheless, hemoglobin S–D disease is recognized as a prothrombotic condition through mechanisms including hemolysis, endothelial dysfunction, increased platelet activation, and hyperviscosity, which may have contributed to thrombosis in the present case. Additional potential contributing factors included dehydration and acute bacterial/pyogenic meningitis. The patient was treated with therapeutic anticoagulation using rivaroxaban, in addition to intravenous hydration and empiric antimicrobial therapy, resulting in marked clinical and radiological improvement. Patients with hemoglobinopathies, including hemoglobin S–D disease, may be predisposed to thrombotic and neurological complications. Although cerebral venous sinus thrombosis has a multifactorial etiology, the underlying hemoglobinopathy and concurrent infection may have acted as contributing factors in this case. A high index of suspicion is warranted in patients with hemoglobinopathy presenting with persistent headache, altered mental status, or focal neurological deficits. Early neuroimaging and prompt initiation of anticoagulation, supported by optimization of hydration and management of concurrent infection, are essential to reduce morbidity and improve neurological outcomes.
Generalized myasthenia gravis (gMG) is a chronic autoimmune disorder affecting patients and healthcare systems. Limited real-world data exist on clinical journey and outcomes of patients with gMG within the Brazilian public health system (SUS). This study aimed to describe clinical profiles, treatment patterns, and healthcare resource use of patients with gMG receiving non-steroidal immunosuppressive therapy (NSIST) in SUS. This retrospective cohort study used DATASUS database claims data (2013–2023). Adults with gMG who initiated NSIST were assessed. Primary outcomes were treatment patterns, including therapeutic sequences and dosage adjustments. Secondary outcomes included exacerbation rates, myasthenic crises, and healthcare resource utilization, stratified by treatment line and patients. The study included 1,207 patients on NSIST, of whom 17.65
Patients with supratentorial meningioma accompanied by peritumoral brain edema (PTBE) are at increased risk of early postoperative seizures (EPS), but individualized preoperative risk stratification remains limited. This study aimed to develop and internally validate a nomogram for predicting EPS within 7 days after surgery. This single-center retrospective cohort study included 397 patients with supratentorial meningioma and PTBE. All eligible patients were used for model development. Prespecified preoperative candidate predictors were evaluated using least absolute shrinkage and selection operator regression, followed by multivariable logistic regression. Internal validation was performed using 1,000 bootstrap resamples incorporating the complete model-development process. EPS occurred in 52 patients (13.1
Objective biomarkers for assessing epilepsy severity are lacking. This study compared the ability to identify higher NHS3 scores using six peripheral blood parameters — including the systemic inflammatory response index (SIRI) and mean platelet volume (MPV) — and evaluated whether combining SIRI and MPV improves performance. This retrospective cross-sectional study consecutively enrolled 364 hospitalized patients with epilepsy at a single center (December 2023–May 2025). Higher NHS3 scores were defined as a National Hospital Seizure Severity Scale (NHS3) score ≥ 9 (the sample median). Spearman correlation, receiver operating characteristic (ROC) analysis with DeLong tests, and multivariable logistic regression were performed. Six markers were examined: SIRI, NLR (neutrophil-to-lymphocyte ratio), MLR (monocyte-to-lymphocyte ratio), SII (systemic immune-inflammation index), PAR (platelet-to-albumin ratio), and MPV. SIRI showed the strongest positive correlation with NHS3 score (r = 0.402, P < 0.001), while MPV showed a significant negative correlation (r = -0.377, P < 0.001). For identifying higher NHS3 scores, SIRI achieved an AUC of 0.685, indicating a nominally higher performance than NLR, MLR, SII, and PAR (nominal P < 0.05 for all comparisons). MPV yielded an AUC of 0.675, comparable to SIRI (P = 0.770) and not significantly different from PAR (P = 0.017). The combined SIRI + MPV model achieved an AUC of 0.719. However, DeLong’s test indicated that this combined model did not provide a statistically significant improvement over SIRI alone (P = 0.120). In separate multivariable logistic regression models adjusting for clinical covariates, both SIRI (OR = 1.51, 95
Modern evidence-based stroke management is contingent on rapid neuroimaging, yet in most resource-constrained settings, several barriers frequently prevent timely brain imaging. This study examines the timing of neuroimaging and its clinical implications for patients with stroke managed at a tertiary referral centre in Port Harcourt, Nigeria. A prospective hospital-based cohort study conducted at the University of Port Harcourt Teaching Hospital between January 2023 and December 2025. Two hundred and seventy-nine patients with radiologically confirmed stroke were included. Primary outcomes were time from ictus to neuroimaging and its association with functional outcome (modified Rankin Scale [mRS] at four weeks) and in-hospital mortality. Logistic regression identified independent predictors of imaging delay. The mean patient age was 59.1 years; 57.4
