Occipital Lobe Epilepsy Presenting with Eyelid Blinking Following Cerebral Venous Sinus Stenotic Thrombosis.
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ABSTRACT:
SUBMITTER: Lee JK
PROVIDER: S-EPMC8490913 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature
Publications
Occipital Lobe Epilepsy Presenting with Eyelid Blinking Following Cerebral Venous Sinus Stenotic Thrombosis.
Lee Jeong Kyu JK Seong Min Jae MJ Ahn Seong Yeol SY Jeong Dae Wang DW Park Jong Ho JH
Journal of clinical neurology (Seoul, Korea) 20211001 4
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Project description:BackgroundThis study aimed to analyze the structural brain network in patients with occipital lobe epilepsy (OLE) and investigate the differences in structural brain networks between patients with OLE and healthy controls.MethodsPatients with OLE and healthy controls with normal brain MRI findings were enrolled. They underwent diffusion tensor imaging using a 3.0T MRI scanner, and we computed the network measures of global and local structural networks in patients with OLE and healthy controls using the DSI studio program. We compared network measures between the groups.ResultsWe enrolled 23 patients with OLE and 42 healthy controls. There were significant differences in the global structural network between patients with OLE and healthy controls. The assortativity coefficient (-0.0864 vs. -0.0814, p = 0.0214), mean clustering coefficient (0.0061 vs. 0.0064, p = 0.0203), global efficiency (0.0315 vs. 0.0353, p = 0.0086), and small-worldness index (0.0001 vs. 0.0001, p = 0.0175) were lower, whereas the characteristic path length (59.2724 vs. 53.4684, p = 0.0120) was higher in patients with OLE than those in the healthy controls. There were several nodes beyond the occipital lobe that showed significant differences in the local structural network between the groups. In addition, the assortativity coefficient was negatively correlated with the duration of epilepsy (r=-0.676, p = 0.001).
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Project description:The prognosis of cerebral venous sinus thrombosis (CVST) is variable, and outcome may range from complete recovery to death. Prognostic factors to predict outcome in the acute phase of CVST have not been analysed in a prospective study. Prognostic factors in patients enrolled in a clinical treatment trial were prospectively investigated. Poor outcome after 12 weeks, defined as death or dependency (Oxford handicap score > or =3), was used as the principle outcome measure. Univariate relations between possible prognostic factors and outcome at 12 weeks were analyzed with chi(2) tests. Treatment and all factors associated with prognosis (p< or = 0.25) were forced into a logistic regression model with a forward selection procedure. Fifty nine patients (50 women, nine men) were studied, with a mean age of 37 years (range 18 to 80 years). After 12 weeks 10 patients (17%) had a poor outcome. The univariate identified factors related to poor outcome were papilloedema, altered consciousness, coma, age older than 33 years, diagnostic delay < or =10 days, intracerebral haemorrhage, and involvement of the straight sinus. Isolated intracranial hypertension and a delta sign on CT were associated with good outcome. In the multivariate analysis coma and cerebral haemorrhage were significantly associated with a poor outcome, with odds ratios of 8.2 (95% confidence interval (95% CI) 1. 3-50.1) and 20.7 (95% CI 1.6-264.3) respectively. Involvement of the straight sinus was also weakly, but not significantly, associated with poor outcome. In conclusion, coma and intracerebral haemorrhage are independent predictors for poor outcome of CVST.
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Project description:BackgroundNeutrophil extracellular traps (NETs) contribute to the creation of a coagulation state in various diseases. Currently, it is not clear whether NETs are present in the thrombi and plasma of patients with cerebral venous sinus thrombosis (CVST). This study aimed to investigate the presence of NETs in thrombi and blood samples from CVST patients and the procoagulant activity (PCA) of NETs during the progression of CVST.ResultsThrombi obtained from CVST patients undergoing thrombectomy were examined by immunochemistry using neutrophil elastase (NE), CD66b and citrullinated histone H3(citH3). The presence of NET markers in samples from 37 CVST patients and 32 healthy people was evaluated by ELISA. NET-producing neutrophils and neutrophil-platelet (PLT) aggregates were examined in samples obtained from CVST patients and healthy people by flow cytometry. The TAT complex in plasma sample from each group was detected by ELISA to evaluate the procoagulant activity of NETs in CVST patients. Neutrophils from healthy subjects were treated with PLT-rich plasma in the presence of anti-PF4 antibodies or an autophagy inhibitor and analyzed by flow cytometry and confocal microscopy. After treatment with NETs, the expression of von Willebrand factor (VWF), tissue factor (TF) and CD31 in human brain microvascular endothelial cells (HBMECs) was measured by confocal microscopy and western blotting. Our results showed that NETs were abundant in the plasma and thrombi from CVST patients. Platelet factor 4 (PF4) from CVST PLTs induced NET generation through autophagy. NETs could induce PCA by modulating TF and phosphatidylserine (PS) in CVST. NETs also disrupted the endothelial barrier and transformed ECs into a procoagulant phenotype to exacerbate thrombogenicity.ConclusionsNET generation was mediated by PF4 from PLTs through autophagy and contribute to thrombosis in CVST patients.
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Project description:Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n = 1021), overlap of generalized and occipital epilepsy (n = 84), and photosensitivity (n = 123). Following interviews and review of medical records, individuals' seizure and epilepsy syndromes were classified. Three novel missense variants and one exon 3 deletion were predicted to be pathogenic by in silico tools, not found in population databases, and located in key evolutionary conserved domains. Median age at seizure onset was 3.5 years (0.5-10 years). Generalized, predominantly absence and myoclonic, and occipital seizures were seen in all families, often within the same individual (6/11). All individuals with epilepsy were photosensitive, and seven of 11 had cognitive abnormalities. Electroencephalograms showed generalized spike and wave and/or polyspike and wave. Here we show a striking RORB phenotype of overlap of photosensitive generalized and occipital epilepsy in both individuals and families. This is the first report of a gene associated with this overlap of epilepsy syndromes.
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Project description:IntroductionCOVID-19 vaccines became available after being carefully monitored in clinical trials with safety and efficacy on the human body. However, a few recipients developed unusual side effects, including cerebral venous sinus thrombosis (CVST). We aim to systematically review the baseline features, clinical characteristics, treatment, and outcomes in patients developing CVST post-COVID-19 vaccination.MethodsThis study was conducted according to the PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analysis) 2020 guideline. Investigators independently searched PubMed, Embase, and Google Scholar for English language articles published from inception up until September 10, 2021, reporting the incidence of CVST post-COVID-19 vaccines. We analyzed CVST patients' baseline data, type of vaccines, clinical findings, treatment, and outcomes. Our systematic review process yielded patient-level data.ResultThe final analysis included 25 studies that identified 80 patients who developed CVST after the COVID-19 vaccination. Of the 80 CVST cases, 31 (39.24%) patients died. There was no significant relationship between mortality and age (P = .733), sex (P = .095), vaccine type (P = .798), platelet count (P = .93), and comorbidities such as hypertension (P = .734) and diabetes mellitus (P = .758). However, mortality was associated with the duration of onset of CVST symptoms after vaccination (P = .022). Patients with CVST post-COVID-19 vaccination were more likely to survive if treated with an anticoagulant (P = .039). Patients who developed intracranial hemorrhage (P = .012) or thrombosis in the cortical vein (P = .021) were more likely to die.ConclusionCOVID-19 vaccine-associated CVST is associated with high mortality rate. Timely diagnosis and management can be lifesaving for patients.
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