Objective To investigate the prevalence and frequency of the common mutations in Uigur non-syndromic deafness group in Xinjiang Uigur Autonomous Region of China, by means of screening nine mutations of four known deafness genes. Methods One hundred eighty-four Uigur patients and 133 Han patients with non-syndromic hearing loss were enrolled in this study. The screening was performed on GJB2, GJB3, mtDNA 12S rRNA and SLC26A4 deafness genes of 35delG, 176de116,235de1C ,299-300delAT,538C ＞ T, 1555A ＞ G, 1494C ＞ T,2168A ＞ G, IVS7-2A ＞ G in these two groups, by means of genic microarray. Results The totlal mutation rate found in the Uigur deafness groups was 12. 50%, significantly different from that in the Han deafness groups (30. 83% ,χ2 = 16. 092 ,P ＜0. 01 ). The GJB2 mutation rate in the Uigur deafness groups was 9. 24%, not significantly different from that in the Han deafness groups ( 14. 29% ,χ2 = 1. 953 ,P ＞0. 05 ). The mutation rate of SL C26A4 was 1.63% and 13.53% respectively in Uigur and Han deafness groups, and has significant difference (χ2 = 17. 683, P ＜ 0. 01 ). The mt DNA 12S rRNA mutation rate in the Uigur deafness groups was 1.63%, not significantly different from that in the Han deafness groups (3.01%, χ2 = 0. 175, P ＞ 0. 05 ). The GJB3 mutation rate of these two deafness groups was very low, shown as 0. 75% and 0 respectively. Conclusions The mutation rate of common deafness genes is lower in the Uigar nonsyndromie deafness group, and the mutation rate of SLC26A4 genes is significantly lower than that in the Han deafness groups. The most common mutation in four known deafness genes is GJB2, whose favorite spots are 235delC and 35delG.

Objective To investigate the frequency of the mutations in Uyghur nonsyndromic deafness groups in Kashgar region of Xinjiang province by means of screening the common mutations of known deafness genes in China. Methods One hundred and seventy-four Uyghur patients with hearing loss were involved in this study. Questionnaire survey was conducted and peripheral blood samples were collected for polymerase chain reaction. Screening was performed for 35delG, 176-191del16, 235de1C, 299-300delAT, 1555A ＞ G, 1494C ＞ T, 2168A ＞ G and IVS7-2A ＞ G. DNA sequence analysis was performed for the samples with absent signals at some loci. SPSS 17.0 software was used to analyze the data. Results Mutation of GJB2 was the most common among the three known deafness genes. 187delG was found for the first time in Uyghur groups with hearing loss and was a new pathological mutation of GJB2. The mutation rate of SLC26A4 was low in the experimental group with no significant difference when compared with the control group. The mtDNA 12S rRNA mutation rate in the deaf group was low but not detected in the control group.In addition, mutations were not dectected in 17 cases among the 20 patients with positive family history.Conclusion The mutation rate and dominant mutation of Uyghur ethnic nonsyndromic deaf groups have their own characteristics, it is necessary to conduct a sequence analysis and a stemma studying for an aim of perfecting the mutation spectrum of Uyghur deafness gene.

OBJECTIVE: To investigate the mechanism by which dripping pills (STDP) improves coronary microcirculation disorder (CMD) and cardiac dysfunction in a porcine model of myocardial ischemia-reperfusion injury. METHODS: Fourteen minipigs were randomly selected for interventional balloon occlusion of the middle left anterior descending branch to induce CMD, and another 7 pigs received sham operation. The pig models of CMD were randomized equally into the model group and STDP-treated group. All the animals were fed with common feed for 8 weeks, and in STDP-treated group, the pigs were given STDP at the daily dose of 3 mg/kg (mixed with feed) for 8 weeks. Before and at the 8th week after the operation, the pigs underwent coronary angiography and echocardiography to determine the vessel lumen diameter and TIMI frame count (CTFC). The pathologies of the myocardium and the microvessels were examined with HE staining at the 8th week. Western blotting was used to detect the expression of silencing information regulator (Sirt1), peroxidase proliferator-activated receptor-γ coactivator-1α (PGC-1α), peroxisome proliferator-activated receptor α (PPARα), extracellular signal-regulated kinase1/2 (ERKI/2), Toll-like receptor 4 (TLR4), and uncoupling protein 2 (UCP2) in myocardial tissue. RESULTS: Before and at the 8th week after the operation, the diameter of the anterior descending vessel in the 3 groups did not differ significantly ( > 0.05). At the 8th week, the number of CTFC frames in the model group increased significantly compared with that in the sham-operated group, but was obviously lowered by treatment with STDP ( < 0.05). Myocardial ischemia-reperfusion injury significantly increased the interventricular septal thickness at end-diastole, left ventricular end-diastole dimension, end-diastole volume, interventricular septal thickness at end-systole and left ventricular mass at 8 weeks after the modeling ( < 0.05), but such changes were significantly alleviated by treatment with STDP (P < 0.05). STDP treatment markedly alleviated myocardial microvascular congestion, thrombosis and peripheral inflammatory cell infiltration induced by myocardial ischemia-reperfusion, but atrophy of the myocardial muscle fiber remained distinct. STDP obviously suppressed the down-regulation of Sirt1, PGC-1α, and PPARα and the up-regulation of ERK1/ 2, TLR4, and UCP2 in the myocardial tissues induced by myocardial ischemia-reperfusion injury. CONCLUSIONS STDP has anti-inflammatory effects and regulates energy metabolism in the myocardium through modulating Sirt1, PGC-1α, PPARα, ERKI/2, TLR4, and UCP2 to improve CMD and cardiac dysfunction after myocardial ischemia-reperfusion.
Animals ; Drugs, Chinese Herbal ; Microcirculation ; Myocardial Reperfusion Injury ; Myocardium ; Rats ; Rats, Sprague-Dawley ; Swine

Objective To construct an optimal prediction model of chickenpox in Urumqi, and to provide reference for formulating the prevention and control strategies of chickenpox. Methods The multivariate autoregressive moving average model (ARIMAX) and random forest model (RF) were established based on the monthly incidence of chickenpox in Urumqi from 2014 to 2018, and the monthly incidence of chickenpox in 2019 was used to test the models and evaluate their prediction effect. The prediction performance of the two models was compared, and the best model was selected to predict the incidence of chickenpox in Urumqi. Results The incidence of chickenpox in Urumqi showed a regular bimodal distribution with obvious seasonality, and it showed a slow upward trend from July 2014 to December 2019. The fitting model was ARIMA(0,1,0)(0,1,1)₁₂, the root mean square error (RMSE) and mean absolute error (MAE) of ARIMAX model training set were 1.29 and 0.95, respectively, and the RMSE and MAE of the test set were 1.88 and 1.44, respectively. The training set RMSE and MAE of RF model were 1.56 and 1.56, respectively, and the test set RMSE and MAE were 4.83 and 3.96, respectively. Conclusion The performance of ARIMAX model is better than that of RF model, which can better predict the incidence trend of chickenpox in Urumqi. It is necessary to optimize the prediction model according to the actual situation and provide scientific guidance for the prevention and control of chickenpox.

Animals ; Mice ; Chlamydia muridarum ; Mice, Inbred BALB C ; Antigens, Bacterial ; Chlamydia Infections