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Objective:To explore the relationship between rs671 (ALDH2), rs1229984 (ADH1B), RS141973904 (ADH1C), RS1799971 (OPRM1), rs1997794 (PDYN) polymorphism and individual's alcohol subjective response and drinking behavior.Methods:From January to December 2018, patients with alcohol dependence who were hospitalized in the First Affiliated Hospital of Xinjiang Medical University and Xinjiang mental health center and met the DSM-IV were selected (alcohol dependence group, n=100). Alcohol dependence patients and normal healthy subjects (control group, n=100) completed general demographic questionnaire, including drinking behavior such as the frequency of drinking each week and the maximum alcohol consumption at one drink, and informed consent, then were extracted of venous blood for DNA test.After that, alcoholics completed the alcohol challenge test.Biphasic alcohol effect scale(BAES) and drug effect questionnaire (DEQ) were completed before drinking and after drinking 30, 60, 120, 180 minutes respectively.Hardy-Weinberg equilibrium for genetic linkage analysis was calculated by utility program.Pearson Chi-square test was used to analyze the odds ratio(OR) value, and the chi-square test of repeated measured variables were used to analyze the variation trend of individual subjective response to alcohol after drinking. Results:rs671 allele A was associated with alcohol dependence risk (χ 2=23.97, P<0.01, OR=7.11, 95% CI=2.93~17.30), and for rs1229984 polymorphism the dominant genetic model " T/T-C/T" was taken as the best fitting model ( P<0.01, OR=0.16, 95% CI=0.08-0.32), which was a protective factor for alcohol dependence.Alcoholics with TT genotype in rs1229984 had lower maximum alcohol consumption ( F=4.86, P=0.01) and weekly alcohol consumption ( F=4.51, P=0.01) than those with CC and CT genotype.The maximum alcohol consumption ( F=20.28, P<0.01) and weekly alcohol consumption ( F=12.46, P<0.01) of individuals with GG and GA genotype in rs1799971 were higher than those with AA genotype.The AA genotype of rs1799971 showed lower stimulative effect ( F=7.99, P=0.01), higher sedative effect ( F=57.04, P<0.01), and lower " like" ( F=13.38, P<0.01) and " more" effect ( F=26.37, P<0.01) than that with GG and GA genotype. Conclusion:rs671 and rs1229984 are more closely related to individual drinking behavior and volume of alcohol consumption.rs1799971 is not only related to individual drinking behavior, but also has a more closed relationship with subjective response to alcohol.
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Objective To explore the correlation between exon region polymorphism of PPP1R3A gene and schizophrenia in Uygur Chinese population. Methods PPP1R3A gene exon region DNA amplification was performed using multiple PCR targeted capture next-generation sequencing method in 528 patients with schizophrenia and 576 healthy controls of Uyghur descent, Illumina HiSeq X Ten was used for sequencing, the symptoms of schizophrenia were assessed by positive and negative symptoms scale (PANSS). Results The allelic and genotypic distributions in rs1800000 of PPP1R3A gene between patients with schizophrenia and healthy controls had significant difference (P＜0.05), rs1799999 in genotype frequency between the female case and control groups showed significant difference (P＜0.05). Furthermore, the allelic distributions of rs8192686 between male cases and controls had significant difference (P＜0.05). Conclusion PPP1R3A gene rs1800000 may be associated with the development of schizophrenia in Uygur Chinese population; rs1799999 may be a risk factor for susceptibility of female Uygur Chinese schizophrenia; The C allele at rs8192686 may be associated with male Uygur Chinese schizophrenia.
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Objective To explore the difference of risk factors to depression between different nationalities, the relationship of stressing life events, cognitive emotion regulation, and depression and suicide ideation were studied by correlate and regression analysis. Methods 126 patients with depression diagnosed by CCMD-III,55 minority nationality and 71 Han nationality patients,completed life events questionnaires,cognitive emotion regulation questionaire(CERQ) and HAMD. All the parameters be analyzed by SPSS 17.0, and correlation analysis and stepwise regression analysis be employed to analyze the relationship between the parameters. Results Negative cognitive emotion, stressing life events and suicide ideation related positively to depression, while positive cognitive emotion related to depression negatively(r self-blame=0.599,r acceptance=0.527,r rumination=0.484,r catastrophizing=0.618,r LES=0.649,r suicide ideation=0.482,P<0.01;r positive refocusing=-0.476,r planning=-0.0254,r positive reapprasial=-0.363,r putting into perspective=-0.492,p<0.01);stressing life events and negative cognitive emotion and depression related positively to suicide i-deation(r LES=0.482.r self-blame=0.438,r acceptance=0.338,r rumination=0.378,r catastrophizing=0.457,r depression=0.724,p<0.01) , and positive cognitive emotion related negatively to it(r positive refocusing=-0.319,r putting into perspective=-0.326,p<0.01). The outcome of correlate analysis was similar in different nationalities. Stressing life events and catastrophizing and other-blame contributed more to depression than other factors in minority nationality group, and only the former two factors contributed to depression in Han nationality group. In both two groups, depression contributed more to suicide ideation than others. Conclusions Stressing rife events and negative cognitive emotion regulation have a significant effect on the development of depression, and the severity of depression is a critical factor to suicide ideation. There is no significant difference about above outcome between different nationalities.
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Objective To analyze the surgical procedure and effect of living-related small bowel transplantation(LR-SBTx) on intestinal function failure caused by short bowel syndrome.Methods A boy, 15 years of age with short gut syndrome, who had only 8 cm of residual small intestine, associated with serious malnutrition and poor D-xylase absorption test (0.226/5h). The donor was the boy's mother. They had a match of 4 loci in HLA. In the first stage of the surgical procedure, 120 cm of ileum from the patient′s mother was transplanted into the recipient. Both ends of the transplanted intestine were exteriorized as stomas on the patient′s abdominal wall. The second stage of reconstruction of the intestine was carried out 6 months after his first operation. The residual small bowel of the recipient was transected, and both of its ends were respectively anastomosed end-to-side to the proximal and distal segments of the graft. The stomas of the graft were left in place. Results The donor and recipient operation went on smoothly. Acute rejection and infection of CMV developed postoperatively and were cured after treatment. The patient was followed-up for 8 months, the graft function recovered gradually postoperatively with increase of body weight. He can ingest a semifluid diet and take care of himself independently. Conclusions LR-SBTx is an effective way to treat short bowel syndrome. The reconstruction of the intestine in two stages for LR-SBTx decreased the risk of complications. Rejection and infection are important risk factors of LR-SBTx.
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Objective To explore the monitoring methods for pancreatic graft function after upper abdominal cluster transplantation.Methods Analysis of the clinical data of 5 cases of successful upper abdominal(cluster) transplantation in our center.Results The patients recovered well after the operation.Endocrine and exocrine functions of all the pancreas graft returned to normal without any rejection.Conclusions Dynamic monitoring of blood glucose,C-peptide,blood insulin,blood amylase,urine amylase,amylase in abdominal drainage and duodenal tube decompression drainage,in addition to Doppler color ultrasound examination,can effectively detect the endocrine and exocrine function of the pancreas graft.