ObjectiveTo explore the clinical value of SEEG-guided radiofrequency thermocoagulation therapy in patients with posterior cortex epilepsy.MethodsA case of epilepsy secondary to viral encephalitis was reported in this paper, SEEG implantation confirmed that the seizure began in bilateral posterior head, and the right posterior head was the main area of disabling lesion. After a series of complete preoperative neuropsychological assessment, the right posterior head was found to have functional retention. Therefore, we used a minimally invasive radiofrequency thermocoagulation therapy to damage epileptic foci.ResultsThe patient were followed up for 2 years after operation, the seizure frequency were significantly reduced, and the patients did not show symptoms of functional loss.ConclusionPosterior cortex epilepsy is common in neonates with brain injury. The localization and lateralization of operation is difficult because its EEG showed bilateral discharges, or the seizures start from both sides of posterior head, meanwhile, posterior head involves functional areas, which makes the operation even more difficult. This minimally invasive treatment destroys the lesion and maximizes the protection of the patient's functional areas, which provides a new surgical approach for bilateral posterior cortex epilepsy in the future, especially for symptomatic epilepsy caused by hypoxic-ischemic brain injury and encephalitis.
ObjectiveTo explore the differences in the detection of vigabatrin-associated brain abnormalities on MRI by different MRI sequences, so as to further guide the clinical understanding of VABAM and improve the appropriate imaging sequences. MethodsA total of 353 patients with infantile spasm or epileptic spasm who were admitted to the Epilepsy Center of Yuquan Hospital of Tsinghua University from January 2020 to January 2023 were retrospectively included. MRI was performed in 131 cases, including 3D T1, T2, T1- fluid-attenuated inversion recovery sequence (FLAIR) images, DWI and ADC sequences, of which 65 cases taking VGB. We aim to evaluate the detection of vigabatrin-associated brain abnormalities on MRI by different MRI sequences in these children. Results Among the 65 patients, VABAM was detected in 23 cases, the detection rate was 35.4%. The average dosage of vigabatrin was 100.73±35.54 mg/(kg·d). The positive detection rates of VABAM were 95.7% in DWI sequence, 26.1% in ADC sequence, 21.3% in FLAIR sequence, 4.3% in T2 sequence and 0 in T1 sequence. The detection rate of ADC sequence was significantly different from DWI sequence and T1 sequence, but not from T2 sequence and FLAIR group. ConclusionDWI sequence has irreplaceable advantages in the detection rate of VABAM. Therefore, for patients with infantile spasm and epileptic spasm who take vigabatrin, we should try our best to add DWI sequence scanning to improve the positive detection rate and avoid clinical symptoms, so as to avoid further brain damage.
ObjectiveTo investigate the associations of signal transducers and activators of transcription 6 (STAT6) gene polymorphisms with susceptibility to tuberculosis in western Chinese Han population.MethodsA total of 900 tuberculosis patients and 1 534 healthy controls of West China Hospital of Sichuan University were enrolled from January 2014 to February 2016. Improved multiplex ligation detection reaction method was used to detect four polymorphisms (rs1059513, rs73118432, rs841718, and rs10783813) of STAT6 gene. The allelic frequencies, genetic types, and different genetic models were analyzed using the chi-square test and unconditional logistic regression models to evaluate the associations of STAT6 gene with tuberculosis risk.ResultsEventually, a total of 856 cases and 1 511 health controls were recruited in our study. No significant differences were observed in allele frequencies, genotype distributions, or genetic models (additive model, dominant model and recessive model) at rs1059513, rs73118432, rs841718, and rs10783813 in STAT6 gene (P>0.05). We found a strong linkage disequilibrium among rs73118432, rs841718, and rs10783813, but there was no statistical difference in haplotype frequencies between the two groups (P>0.05).ConclusionsSTAT6 gene rs73118432, rs841718, rs10783813, and rs1059513 polymorphisms might have no associations with tuberculosis susceptibility in western Chinese Han population. Further studies with larger sample sizes are needed to comfirm these results.
ObjectiveTo explore the relationship between the single nucleotide polymorphisms of interleukin (IL)-23R gene and susceptibility to pulmonary tuberculosis in Southwest Chinese Han population.MethodsA total of 680 pulmonary tuberculosis patients (pulmonary tuberculosis group) and 680 healthy controls (healthy control group) diagnosed or examined between January 2014 and February 2016 were recruited from West China Hospital, Sichuan University. Improved multiplex ligation detection reaction (iMLDR) method was used to detect the polymorphism of rs1495965, rs7518660, rs7532161, rs10889677 and rs11465802 of IL-23R gene. The differences in allele frequency distribution, genotype, and genetic model of these five loci between pulmonary tuberculosis patients and healthy control were conducted by using SPSS20.0 and PLINK 1.07. Linkage disequilibrium and haplotype analysis were also carried out by Haploview 4.2.ResultsFinally, 657 pulmonary tuberculosis patients and 669 healthy controls were enrolled for further analyzed. The difference in the allele frequency distribution A (P=0.048), AA genotype (P=0.048) and additive model AA/GG (P=0.048) in rs1495965 was significant between the pulmonary tuberculosis group and healthy control group when we adjusted the gender and age. However, after correction by Bonferroni, the differences in allele frequency distribution, genotype and additive model of all these five loci between the two groups were not statistically significant (P>0.05). rs7518660, rs10889677 and rs11465802 had strong linkage disequilibrium (LD) with each other (r2>0.80); however, there was no association between haplotype GCA and tuberculosis susceptibility (P=0.343).ConclusionsThere is no association between rs1495965, rs7518660, rs7532161, rs10889677 and rs11465802 of IL-23R gene and genetic pulmonary tuberculosis susceptibility in Southwest Chinese Han population. To add loci in the coding region and analysis in different populations is necessary.
ObjectivesTo conduct a bibliometric analysis to research the status of disease burden domestically and overseas so as to understand the status of diseases burden, and to provide scientific and reasonable reference for health disease prevention, control strategies formulation and future research.MethodsPubMed, Web of Science, EMbase, The Cochrane Library, WanFang Data, CBM and CNKI databases were electronically searched to collect literature on disease burden from inception to October, 2018. Two reviewers independently screened literature and extracted data. EndNote X7 software was used for literature management, Excel 2016 software and VOS viewer software were also used to analyze data. Literature was classified by the aspects of literature publication characteristics, diseases, background areas, influencing factors, evaluation indicators and poverty caused by illness.ResultsA total of 325 studies were included in the bibliometric analysis. 41 articles (12.6%) were published in journals indexed by SCIE; original research evidence accounted for 97.0% (315 articles); 272 articles were from China (83.7%). The main diseases involved were malignant tumors (58 articles, 17.8%), diabetes (29 articles, 8.9%) and hypertension (24 articles, 7.4%). Factors affecting the disease burden primarily included hospitalization days (9 articles, 2.8%), complications (5 articles, 1.5%), delays in treatment (5 articles, 1.5%), and economic income (4 articles, 1.2%). Sixity-one articles (18.8%) reported poverty due to illness, and related diseases were chronic obstructive pulmonary disease (12 articles, 3.7%), hypertension (10 articles, 3.1%), diabetes (10 articles, 3.1%), malignant tumors (9 articles, 2.8%) and hepatitis B (6 articles, 1.8%).ConclusionsAt present, the disease burden research are focusing more on the burden of chronic non-communicable diseases such as malignant tumors, hypertension, diabetes, cardiovascular and cerebrovascular diseases in developing countries and regions. Medical costs vary from different diseases and treatment, different demographic characteristics of patients, and the coverage medical security of different population are the primary reasons for the " expensive in medical treatment” of current residents and the heavy burden of disease. DALY and total direct medical expenses are the main evaluation indexes of epidemiological burden and economic burden of disease, respectively. Future researches should focus on strengthening the scientific nature of study design to improve the quality of research, as well as paying more attention to diseases and aspects that are rarely involved, such as major diseases caused by poverty due to illness, comprehensive analysis of multiple diseases and aspects of health investment measurement, and comprehensively use the evaluation indicators of disease burden to strengthen the research on the comparability index of disease economic burden.
ObjectiveTo study the therapeutic efficacy of stereoelectroencephalography (SEEG)-guided radiofrequency thermo-coagulation ablation (RF-TC) in the treatment of tuberous sclerosis (TSC) related epilepsy and to investigate the prediction of the therapeutic response to SEEG-guided RF-TC for the efficacy of the subsequent surgical treatment. MethodsWe retrospectively analyze TSC patients who underwent SEEG phase II evaluation from January 2014 to January 2023, and to select patients who underwent RF-TC after completion of SEEG monitoring, study the seizure control of patients after RF-TC, and classify patients into effective and ineffective groups for RF-TC treatment according to the results of RF-TC treatment, compare the surgical outcomes of patients in the two groups after SEEG, to explore the prediction of surgical outcome by RF-TC treatment. Results59 patients with TSC were enrolled, 53 patients (89.83%) were genetic detection, of which 28 (52.83%) were TSC1-positive, 21 (39.62%) were TSC2-positive, and 4 (7.54%) were negative, with 33 (67.34%) de novo mutations. The side of the SEEG electrode placement: left hemisphere in 9 cases, right hemisphere in 13 cases, and bilateral hemisphere in 37 cases. 37 patients (62.71%) were seizure-free at 3 months, 31 patients (52.54%) were seizure-free at 6 months, 29 patients (49.15%) were seizure-free at 12 months, and 20 patients (39.21%) were seizure-free at 24 months or more. 11 patients had a seizure reduction of more than 75% after RF-TC, and the remaining 11 patients showed no significant change after RF-TC. There were 48 patients (81.35%) in the effective group and 11 patients (18.65%) in the ineffective group. In the effective group, 22 patients were performed focal tuber resection laser ablation, 19 cases were seizure-free (86.36%). In the ineffective group, 10 patients were performed focal tuber resection laser ablation, only 5 cases were seizure-free (50%), which was a significant difference between the two groups (P<0.05). ConclusionsOur data suggest that SEEG guided RF-TC is a safe and effective both diagnostic and therapeutic treatment for TSC-related epilepsy, and can assist in guiding the development of future resective surgical strategies and determining prognosis.
ObjectiveAicardi and Goutières syndrome was first reported as a rare hereditary encephalopathy with white matter involvement in 1984. Typical clinical manifestations include severe mental motor development retardation or regression, pyramidal and extrapyramidal symptoms and signs, epilepsy, microcephaly and frostbite.MethodsTo collect a case of patient who presented with convulsions 14 days after birth without obvious inducement. The child was diagnosed as epilepsy in the local hospital and the symptoms improved after treatment with antiepileptic drugs. At 4 months, the child presented nods and clenched fists, and was diagnosed as infantile spasm. After Adrenocorticotrophic hormone and drug treatment, the symptoms gradually improved. Due to upper respiratory track infection, the child was aggravated at the age of 1 year and 2 months, and then diagnosed as Aicardi-Goutières syndrome by video EEG, skull MRI, fundus and gene screening.ResultsSurgery and treatment with antiepileptic drugs significantly improved the symptoms of the child, and the pathological biopsy of the brain tissue supported the previous diagnosis.ConclusionsThe report of this case will help to improve the clinician's diagnosis and treatment of Aicardi-Goutières syndrome.
ObjectiveTo explore the relationship between single nucleotide polymorphisms (SNPs) of the Toll-like receptor 4 (TLR4) gene and the risk of pulmonary tuberculosis (PTB) more comprehensively and objectively through meta-analysis.MethodsWe searched all available articles published before June 13th, 2019 in main Chinese and English databases systematically and comprehensively, including PubMed, Embase, China National Knowledge Infrastructure, Wanfang and CQVIP databases. The literature was screened according to the inclusion and exclusion criteria set in advance. In addition, the basic characteristics and data of the included literature were recorded according to a pre-made data collection form. Statistical analyses were performed using the Stata 15.0 software.ResultsA total of 17 eligible original articles were included in the study eventually. Furthermore, allele and genotype data of the 4 most widely studied SNPs (rs4986790, rs4986791, rs10759932, and rs11536889) in the TLR4 gene were extracted. And their allelic model, dominant model, recessive model, homozygous model, and heterozygous model were separately analyzed by meta-analysis. The results showed that the C allele of rs10759932 increased the risk of PTB [odd ratio (OR)=1.144, 95% confidence interval (CI) (1.043, 1.254), P=0.004]. Compared with the TT genotype, the CC+CT genotype and the CT genotype alone of rs10759932 also increased the risk of PTB [OR=1.218, 95%CI (1.084, 1.369), P=0.001; OR=1.227, 95%CI (1.085, 1.387), P=0.001]. Nevertheless, there was no statistical correlation between the other three SNPs (rs4986790, rs4986791 and rs11536889) and the susceptibility to PTB (P>0.05).ConclusionThe allele model, dominant model (CC+CT vs. TT), and heterozygous model (CT vs. TT) of rs10759932 located on the TLR4 gene are closely related to the risk of PTB.
ObjectiveTo discuss the scientific research and application value of the new China Association Against Epilepsy (CAAE) EEG reporting system, and to explore the model of establishing EEG database of tertiary comprehensive epilepsy center. MethodsA retrospective study was performed on outpatients who underwent EEG examination at the Epilepsy Center of Tsinghua University Yuquan Hospital from May 2021 to May 2022, and who also received EEG reports using the CAAE new EEG reporting system. We integrated the data of these 6380 patients with the previous database of our Epilepsy Center, and combined the two for the preliminary big data analysis. Results Among 6380 patients, normal EEG was reported in 2253 cases (35.3%) ,abnormal EEG in 4031 cases (63.2%), no definite abnormality in 96 cases. According to age groups, there were 3290 cases in children (51.0%), 1372 cases in adults (22.0%), 753 cases in adolescents (12.0%), 730 cases in infants (11.0%) and 235 cases in infants (4.0%).A total of 1466 (23.0%) patients were recorded with paroxysmal events, including 874 (60.0%) epileptic events. 517 (35.0%) non-epileptic events. ConclusionThe new EEG reporting system can provide a large number of researchable EEG data to guide clinical work, and it is an important tool for data sharing and big data research in the future.
Objective To analyze the human leukocyte antigen (HLA) gene polymorphism and haplotype frequency and distribution in Han patients with end stage renal disease (ESRD) in Sichuan province, and explore the correlation of HLA gene polymorphism and haplotype with the susceptibility to ESRD in Sichuan Han patients. Methods Polymerase chain reaction-sequence specific oligonucleotide probe hybridization typing technique was used to detect the HLA-A, -B, -DRB1, and -DQB1 genotypes of Han patients with ESRD and healthy participants. The allele and haplotype frequencies in the ESRD group and the control group were analyzed using SPSS 25.0 and Arlequin 3.5.2.2 softwares. Results A total of 756 ESRD patients and 1118 healthy participants were enrolled. In the four loci of HLA-A, -B, -DRB1, and -DQB1, the frequency of HLA-B*39 allele in the ESRD group was higher than that in the control group [3.37% vs. 2.19%; χ2=4.850, P=0.028, odds ratio (OR)=1.558, 95% confidence interval (CI) (1.047, 2.319)], the frequency of HLA-DQB1*06 allele in the ESRD group was lower than that in the control group [17.39% vs. 21.20%; χ2=8.264, P=0.004, OR=0.783, 95%CI (0.662, 0.925)], and the frequency of HLA-DQB1*04 allele in the ESRD group was higher than that in the control group [7.41% vs. 5.46%; χ2=5.867, P=0.015, OR=1.386, 95%CI (1.063, 1.807)]. The frequencies of 10 haplotypes, including HLA-A*11-B*39, HLA-DRB1*15-DQB1*06, and HLA-DRB1*04-DQB1*04, were significantly different between the ESRD group and the control group (P<0.05), among which 9 haplotypes were possibly susceptible to ESRD and 1 haplotype was possibly protective. Conclusions HLA gene polymorphism is closely related to the susceptibility to ESRD. HLA-B*39 and HLA-DQB1*04 may be susceptible genes for ESRD in Sichuan Han patients, while HLA-DQB1*06 may be a protective gene. In addition, 10 HLA haplotypes are possibly associated with the susceptibility to ESRD in Sichuan Han patients.