Objective To analyze the correlation between HLA-A and B genotypes and maculopapular exanthema (MPE) caused by Carbamazepine (CBZ) and Oxcarbazepine (OXC), and to explore the genetic risk factors of MPE. Methods Patients with MPE (rash group) and patients without MPE (non-rash group) after taking CBZ or OXC were retrospectively collected from January 2016 to October 2021 in the Second Affiliated Hospital of Guangzhou Medical University. DNA was extracted from peripheral blood. HLA-A and HLA-B alleles were sequenced by high resolution sequencing, and a case-control study was conducted to analysis the correlations between MPE and HLA genotypes. Results A total of 100 patients with CBZ-MPE, 100 patients with CBZ-tolerant, 50 patients with OXC-MPE, and 50 patients with OXC-tolerant were collected. There was no significant difference in age and sex between CBZ, OXC rash groups and non-rash groups The average latency of CBZ-rash group was (11.31±11.00) days and their average dosage was (348.46±174.10) mg; the average latency of OXC-rash group was (11.67±10.34) days and their average dosage was (433.52±209.22) mg [equivalent to CBZ (289.01±139.48 mg)], showing no significant difference in latency and dosage between CBZ and OXC (P>0.05). The positive rates of HLA-A*24:02 and A*30:01 in CBZ-rash group were 28% and 6%, respectively, which were significantly higher than those in CBZ-non rash group (16% and 0%, both P=0.04). The positive rate of HLA-B*40:01 in CBZ-rash group was 18%, which was significantly lower than that in CBZ-non rash group (40%, P<0.001). No association between HLA-A or B genotype and OXC-rash was found yet. When pooled, it was still found that the positive rates of HLA-A*24:02 and A*30:01 in the rash group were higher than those in the non-rash group, while the positive rate of HLA-B*40:01 in the rash group was lower than that in the non-rash group, and the difference was statistically significant (P<0.05). Conclusions HLA-A*24:02 and A*30:01 were associated with MPE caused by CBZ, and may be common risk factors for aromatic antiepileptic drugs.
Objective To observe the mutation frequency and the characteristics of rentinitis pigmentosa (RP)1 gene in the Chinese patients with autosomal dominant (AD) RP or sporadic RP (SRP), and to evaluate their potential effects on the pathogenesis of RP. Methods Fifty-five members from 7 Chinese families with ADRP, 30 patients with SRP, and 75 healthy adults were recruited. Polymerase chain reaction (PCR) and direct DNA sequencing were used to detect the sequence mutation in the entire coding region and splice sites of RP1 gene. Univariate analysis and multivariate analysis were used to detect the effect of RP1 gene mutation sites on RP. Results Four coding sequence variants were detected in the codes of 852，872，921 and 939 at the exon 4 of RP1 gene. The R872H alteration, which was found in both ADRP families and patients with SRP, showed positive correlation with RP confirmed by the multivariate logistic regression analysis. The P903L alteration was only found in ADRP families but not in the patients with SRP or the healthy adults. Conclusions The R872H alteration in the RP1 gene is likely to increase the risk of RP, and may be a susceptible gene of RP. Whether the P903L alteration is a diseasecausing factor needs to be further studied.
Epilepsy is a chronic brain dysfunction disease with complex and diverse causes, but 70%-80% of patients do not have obvious characteristic phenotypic symptoms. In order to provide precise treatment for epilepsy patients, research on the genetic pathogenic factors and pathogenesis of epilepsy has attracted much attention. Different types of epilepsy are constantly found to be closely related to mutations in specific genes, such as SCN1A, KCNA2, KCNT1, GABRA1, TSCs, CDKL5, and so on. Therefore, the development of broad-spectrum antiepileptic drugs is very difficult. However, plant-based drugs or functional ingredients derived from traditional medicinal herbs, such as cannabinol, aconitine, and dodecenal, will expand the development of safer and more effective anti epileptic drugs.
Objective To measure and compare the difference between the normal control and retinoschisis with multifocal electroretinography. Methods Nineteen cases (21 eyes) of normal control and 8 cases (15 eyes) of inherited retinoschisis were measured with VERIS ScienceTM 4.0.Three cases (6 eyes) of inherited retinoschisis were tested with Ganzfeld ERG. Results There was statistically significant difference of average response density and latencies in all 6 ring retinal regions between the normal control and retinoschisis. The topography of multifocal ERG showed that multifocal amplitude decreased with disappearing or decreasing of central peak amplitude in patients with retinoschisis. The P1/N1ratio of the multifocal ERG average response densities in 6 ring retinal regions was different from the b/a ratio of the Ganzfeld ERG. Conclusion Each of the multifoca l ERG and Ganzfeld ERG has its advantage in the diagnosis of the retinoschisis. (Chin J Ocul Fundus Dis, 2001,17:268-270)
ObjectiveTo investigate the difference of DNA methylation before and after bariatric surgery.MethodThe relevant literatures of the research on the changes of DNA methylation level and gene expression regulation in blood and tissues before and after bariatric surgery were retrieved and reviewed.ResultsDNA methylation was an important method of epigenetic regulation in organisms and its role in bariatric surgery had been paid more and more attention in recent years. Existing studies had found that there were changes of DNA methylation in blood and tissues before and after bariatric surgery. The degree of methylation varies with different follow-up time after bariatric surgery and the same gene had different degrees of methylation in different tissues, and some even had the opposite results.ConclusionsDNA methylation levels before and after bariatric surgery are different in different tissues. And studies with larger sample size and longer follow-up time are needed, to further reveal relationship among DNA methylation, obesity, and bariatric surgery.
ObjectiveTo summarize the progress in mutant gene sequences of different types of hereditary colorectal cancer.MethodThe relevant literatures about genetic mutations in hereditary colorectal cancer at home and abroad were reviewed.ResultsHereditary colorectal cancer coule be divided into two categories according to whether it was related to the germline mutations of known oncogenes. Among the known germline mutant genes, the gene of adenomatous polyposis coli (APC), MUTYH, thymidine glycol DNA glycosylase 1 (NTHL1), polymerase (DNA) epsilon, catalytic subunit (POLE), and polymerase (DNA) delta 1, catalytic subunit (POLD1) were closely related to adenomatous polyposis syndromes, mismatch repair (MMR)-related genes were related to Lynch syndrome, serine/threonine kinase 11 (STK-11) gene was related to Peutz-Jeghers syndrome, mutant genes of SMAD4 and bone morphogenetic protein receptor type 1A (BMPR1A) were found in JPS individuals, and Cowden syndrome was caused by phosphatase and tensin homology deleted on chromosome ten (PTEN) gene mutation. For colorectal cancer patients with unknown germline mutations but significant genetic characteristics (such as hyperplastic polyposis), relevant genes had also been gradually searched out, which needed further evidence.ConclusionsColorectal cancer is a malignant tumor with genetic characteristics. Compared with sporadic colorectal cancer, the time of hereditary colorectal cancer from adenoma to cancer is shorter, and the occurrence of heterogeneous tumor is also increased, but the survival rate after active intervention is higher than the sporadic one. To study the mutant gene sequences of hereditary colorectal cancer is the improvement and development of the diseases control in modern medicine.
In order to improve the accuracy and efficiency of automatic seizure detection, the paper proposes a method based on improved genetic algorithm optimization back propagation (IGA-BP) neural network for epilepsy diagnosis, and uses the method to achieve detection of clinical epilepsy rapidly and effectively. Firstly, the method extracted the linear and nonlinear features of the epileptic electroencephalogram (EEG) signals and used a Gaussian mixture model (GMM) to perform cluster analysis on EEG features. Next, expectation maximization (EM) algorithm was used to estimate GMM parameters to calculate the optimal parameters for the selection operator of genetic algorithm (GA). The initial weights and thresholds of the BP neural network were obtained through using the improved genetic algorithm. Finally, the optimized BP neural network is used for the classification of the epileptic EEG signals to detect the epileptic seizure automatically. Compared with the traditional genetic algorithm optimization back propagation (GA-BP), the IGA-BP neural network can improve the population convergence rate and reduce the classification error. In the process of automatic detection of epilepsy, the method improves the detection accuracy in the automatic detection of epilepsy disorders and reduced inspection time. It has important application value in the clinical diagnosis and treatment of epilepsy.