OBJECTIVETo investigate the polymorphisms distribution of genes related with mental diseases, such as proline dehydrogenase gene (PRODH) and serotonin 2A(5-HT(2A)) receptor gene, among Korean-Chinese and Han nationality in Chinese Yanbian area.

METHODSBy utilizing techniques of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), the polymorphisms for -1945 region of the PRODH gene and -1438 region of the 5-HT(2A) receptor gene were analyzed.

RESULTSThe PRODH genotype frequencies of MM, Mm and mm in Korean-Chinese population were 61.4%,34.4%,4.2% respectively, the allele frequencies were 0.786 for M and 0.214 for m respectively, and those in Han population were 55.2%,38.5%,6.3%, 0.745 and 0.255 respectively. The 5-HT(2A) receptor gene genotype frequencies of AA, AG and GG in Korean-Chinese population were 15.6%,67.7%,16.7% respectively, the allele frequencies were 0.495 for A and 0.505 for G respectively, and those in Han population were 11.5%,65.6%,22.9%, 0.443 for A and 0.557 for G.

CONCLUSIONAll of the genotype distribution of both loci in Chinese Korean and Han nationality in Yanbian area meet Hardy-Weinberg equilibrium, and show stronger ability in human identity. The data obtained can be used in human identity, paternity testing and Chinese Korean ethnic group study.

Adult ; Animals ; China ; Electrophoresis ; Ethnic Groups ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Korea ; ethnology ; Male ; Mental Disorders ; genetics ; Mice ; Polymorphism, Genetic ; Proline Oxidase ; genetics ; Receptor, Serotonin, 5-HT2A ; genetics

Background Qiang minority is minority groups of China with the special habits and customs and living condition. So whether the spectrum of disease and bacteria spectrum in conjunctiva are similar with Han nationality is worth paying attention. Objective Present survey was to obtain the data about bacterial species in conjunctival sac in Qiang minority population with the age 40 years old and more and the compare with matched Han nationality population. Methods This survey study was performed as the standardized training and protocol. A total of 212 eyes of 106 individuals from Qiang minority in Beichuan county and 640 eyes of 320 subjects from Han nationality in Mianyang city received questionnaire survey and ophthalmological examination. The secretion of the inferior palpebral conjunctival sac was embrocated and inoculated on blood plate for 48-72 hours. The bacteria was separated and identified. This study was approved by the Ethic Committee of Sichuan Provicial People' s Hospital. Orally informed consent was obtained before the medical procedure. Results All the examinee finished the survey and examination with a good compliance. No significant difference was found in the demography between these two groups of population. The multiple bacterial positive rate in conjunctival sac was 59. 4% in Qiang minority and that of Han people was 66. 3% with a considerably difference between them (χ2 = 2. 27,P = 0. 13). The multiple bacterial species were simultaneously detected in 26.2% in Qiang minority population and 11.88% Han people, showing evidently difference (χ2 = 106. 40, P = 0. 00 ) . The positive rate of corynbaccterium in conjunctival sac of Qiang minority was statistically lower than that of Han people (20. 7% versus 45. 0% ,χ2 =31. 75 ,P = 0. 00) ,but there was no statistical difference in the positive rate of staphylococcus epidemics between two groups (χ2 = 1. 89 ,P = 0. 17). Conclusion The bacteria positive rate in conjunctiva sac is resemble in the population over 40 years in both the Qiang minority and Han nationality. The simple bacterial species is found in majority people in two groups of subjects. The positive rate of multiple bacterial strains coexistence is more in the Qiang minority. The bacterial strains is different between Qiang minority and Han nationality.

Objective To study the influencing factors of recurrence of trigeminal neuralgia after microvascular decompression and its microsurgical management.Methods Twenty one patients with recurrent trigeminal neuralgia after microvascular decompression (MVD),admitted to our hospital from 2006 to 2011,were treated by microsurgical operations assisted by neuroendoscope.MVD was performed again in 17 patients,arachnoid membranes reflaxation in 2,partial rhizotomy (PR) in 1,and both MVD and PR in 1.Results All patients were followed up for about 28.5 months (mean duration).The total effective rate during the follow-up period was 95.2％.Facial numbness was found in 2 patients and light facial paralysis in 1.Conclusion Many factors were responsible for the recurrence of trigeminal neuralgia after MVD; and vascular compression is still the main cause; MVD should be the first choice; curative effect and safety would be improved by the assistance ofneuroendoscope.

Objective To investigate the clinicopathological features, immunophenotype, diagnosis and treatment of SMARCA4 (BRG1)-deficient carcinoma. Methods Clinical data of 11 patients with SMARCA4 (BRG1)-deficient cancer were collected. The morphologic and immunohistochemical features of this tumour were summarized, and the relevant literature was reviewed. Results Among the 11 cases of SMARCA4 (BRG1)-deficient carcinoma, eight were male and three were female, with median age of 60. Seven patients underwent radical resection, and four underwent traditional joint targeted chemotherapy and immunotherapy. Microscopically, the tumor cells were epithelioid, rhabdoid or spindle-shaped, with prominent eosinophilic nucleoli and frequent mitoses (>5/10 HPF). Multiple foci of necrosis were found in the tumor tissue, a large number of tumor emboli in the blood vessels and myxoid stromal degeneration. Among these cases, 11 cases showed loss of SMARCA4 (BRG1) expression, whereas the CK and Vim markers were expressed, SMARCB1 (INI1) expression was retained, and p53 mutation was detected. The tumor cells showed high proliferation activity (Ki-67>60%), and synaptophsin was moderately positive. Three cases were mismatch repair deficient and respectively showed the loss of MLH1/PMS2, PMS2 and MSH6 expression. Conclusion The incidence of SMARCA4 (BRG1) -dificient carcinoma is low. It can be easily confused with other tumors and is difficult to be diagnosed before operation, which requires confirmation by immunohistochemistry.

Objective: The purpose of this study was to investigate the effects of CYP2C19 gene mutations on clopidogrel antiplatelet activity in the patients with coronary heart disease treated by percutaneous coronary intervention. Methods: Patients with coronary heart disease, who hospitalized in the Second Affiliated Hospital of Nanchang University from March 2011 to June 2019, and healthy individuals with matching genetic background, gender, and age as controls were included in this study. Basic clinical data were analyzed and blood samples of all research subjects were obtained for extraction of DNA, and Sanger first-generation sequencing method was used to detect CYP2C19 gene mutation from full exon and exon and intron junction. CYP2C19 gene variations in patients with coronary heart disease were compared with the 1000 Genomes Browse database and the sequencing results of healthy controls to determine whether the gene variation was a genetic mutation or a genetic polymorphism. After that, PolyPhen-2 prediction software was used to analyze the harmfulness of gene mutations to predict the effect of mutations on protein function. The same dose of CYP2C19 wild-type plasmid and the CYP2C19 gene mutant plasmids were transfected into human normal liver cells HL-7702. After transfection of 24 h, the expression of CYP2C19 protease in each group was detected. The liver S9 protein was incubated with clopidogrel, acted on platelets to detect the platelet aggregation rate and the activity of human vasodilator-activated phosphoprotein (VASP). Results: A total of 1 493 patients with coronary heart disease (59.36%) were enrolled, the average age was (64.5±10.4) years old, of which 1 129 were male (75.62%). Meanwhile, 1 022 healthy physical examination volunteers (40.64%) were enrolled, and the average age was (64.1±11.0) years old, of which 778 were male (76.13%). A total of 5 gene mutations of CYP2C19 gene were identified in 12 patients (0.80%), namely, 4 known mutations T130K (1 case), M136K (6 cases), N277K (3 cases), V472I (1 case) and one new mutation G27V (1 case), no corresponding gene mutation was found in healthy controls. It was found that T130K and M136K were probably damaging, G27V was possibly damaging, and N277K and V472I were benign mutations. In vitro, we demonstrated that the platelet aggregation rate of the M136K gene mutation group was 24.83% lower than that of the wild type (59.58% vs. 34.75%; P<0.05), and the phosphorylated VASP level was 23.0% higher than that of the wild type (1.0 vs. 1.23; P<0.05). However, the platelet aggregation rate and phosphorylated VASP level were similar between of G27V, T130K, N277K, V472I gene mutation groups and wild type group (P>0.05). Conclusions: In this study, 5 gene mutations are defined in patients with coronary heart disease, namely G27V, T130K, M136K, N277K, V472I. In vitro functional studies show that CYP2C19 gene mutation M136K, as a gain-of-function gene mutation, can enhance the activation of CYP2C19 enzyme on clopidogrel, thereby inhibiting the platelet aggregation rate.