Associations among Genetic Variants and Intracranial Aneurysm in a Chinese Population

PURPOSE: Genome-wide association studies (GWAS) have revealed that common variants on or near EDNRA, HDAC9, SOX17, RP1, CDKN2B-AS1, and RBBP8 genes are associated with intracranial aneurysm (IA) in European or Japanese populations. However, due to population heterogeneity, whether these loci are associated with IA pathogenesis in Chinese individuals is still unknown. The purpose of this study was to investigate associations among GWAS-identified loci and risk of IA in a Chinese population. MATERIALS AND METHODS: A total of 765 individuals (including 230 IA patients and 535 controls) were involved in this study. Twelve single nucleotide polymorphisms (SNPs) of candidate loci were genotyped using the Sequenom MassARRAY platform. Associations were analyzed using univariate or multivariate logistic regression analysis. RESULTS: SNPs in CDKN2B-AS1 (especially rs10757272) showed significant associations with IA in dominant and additive models [odds ratio (OR), 2.99 and 1.43; 95% confidence interval (CI), 1.44–6.24 and 1.10–1.86, respectively]. A SNP near HDAC9 (rs10230207) was associated with IA in the dominant model (OR, 1.42; 95% CI, 1.01–1.99). One SNP near RP1 (rs1072737) showed a protective effect on IA in the dominant model (OR, 0.66; 95% CI, 0.46–0.95), while another SNP in RP1 (rs9298506) showed a risk effect on IA in a recessive model (OR, 3.82; 95% CI, 1.84–7.91). No associations were observed among common variants near EDNRA, SOX17, or RBBP8 and IA. CONCLUSION: These data partially confirmed earlier results and showed that variants in CDKN2B-AS1, RP1, and HDAC9 could be genetic susceptibility factors for IA in a Chinese population.

Clinical features of anti-N-methyl-D-aspartate receptor encephalitis and the concomitant seizure / 中南大学学报(医学版)

To investigate the clinical features, auxiliary examination and characteristics for anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis and its concomitant seizure.
 Methods: A total of 20 patients diagnosed as anti-NMDAR encephalitis were enrolled from January 2016 to September 2018 in Xiangya Hospital. The data including the clinical features, auxiliary examination, characteristics of seizure, treatment and prognosis were collected. The discharged patients were followed up for half a year.
 Results: The initial symptom in patients with anti-NMDAR encephalitis were mainly psychiatric symptom and seizure. Most of the EEG result were diffused slow waves. The mainly type of seizure in patients with anti-NMDAR encephalitis showed generalized tonic-clonic seizure. Patients occurred consciousness during the onset of the disease. MRI showed that patients with temporal lobe were more inclined to occur seizure than patients with anti-NMDAR encephalitis (P<0.05). After standardized treatment, 20 patients showed a significant improvement in modified Rankin Scale (mRS) scores and the seizure was under control within half a year. 
 Conclusion: Patients with temporal lobe affected in MRI should pay attention to the possibility of seizure occurrence. Anti-epileptic drugs and immunotherapy should be used promptly in patient with seizure. After standardized treatment, the prognosis of patients will be mostly good.

Changes in default mode network functional connectivity of resting-state functional magnetic resonance imaging in partial epilepsy / 中华神经科杂志

Objective To explore changes of brain function among patients with partial epilepsy in resting state by using the blood oxygenation level dependent functional magnetic resonance imaging (fMRI) techniques.Methods fMRI scanning was performed in resting state among 60 patients with partial epilepsy and 60 gender,age and educational levels matched normal controls.The functional connectivity analysis was applied to calculate the default mode network ( DMN ) functional connectivity in resting-state fMRI.SPM5 was used to analyze differences in functional connectivity between the two groups( P ＜0.001,cluster ＞50).Results Left precuneus and adjacent posterior cingulate cortex ( Pcu/PCC),angular gyrus,and cingulate gyrus were involved in the DMN of epileptic patients.By contrast,the DMN of controls included left Pcu/PCC,right angular gyrus,bilateral medial frontal lobe and temporal lobe.Compared with normal controls,patients with partial epilepsy showed a significantly decrease in functional connectivity of DMN region such as left inferior parietal lobule,supramarginal gyrus,parahippocampa gyrus and superior temporal gyrus,and bilateral uncus,while no regions were found increased functional connectivity in patients group.Conclusions Patients with partial epilepsy show abnormal changes in functional connectivity of DMN in resting state by fMR],which may associate with the potential pathophysiological mechanisms of epilepsy.The findings demonstrate that the resting-state fMRI might detect the extensive changes of brain function in partial epilepsy with negative results of conventional MRI,suggestive of fMRI as an effective and non-invasive method to explore brain function in epilepsy.