3.An Analysis of the Common Deafness Gene Mutation from 356 Non-Syndromic Deafness Patients in Guizhou Province
Xue YANG ; Youqin WANG ; Hongyuan GUO ; Li LAN ; Yuqing LIU ; Zuwei CAO ; Fangying TAO ; Kejie YANG
Journal of Audiology and Speech Pathology 2017;25(1):9-13
Objective The study was to investigate the spectrum and incidence of the hot-spot deafness gene mutations from non-syndromic hearing loss(NSHL)in Guizhou province.Methods Genomic DNAs of 356 patients of NSHI in Guizhou were obtained from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the gene GJB2,SLC26A4,GJB3 and mitochondria 12SrRNA.Results Eighty-eight (24.72%)out of 356 patients were found carrying at least one pathogenic gene mutation.Among them,40 patients with the GJB2 mutations were found(11.24%),including 19 cases(5.34%)of homozygous matutions,5 cases(1.40%)of com-pound heterozygous mutations,and 15 cases(4.21%)of single heterozygous mutations.Twenty-nine patients with the SLC26A4 mutations were found (8.15%),including 9 cases(2.53%)of homozygous mutations and 19 cases (5.34%)of single heterozygous mutations.Homogenic mitochondrial 12SrRNA 1555A>G mutations were in 10 patients(2.81%)and 1494C>T mutations in 10 patients (0.56%),and heterogeneous mitochondrial 12SrRNA 1555A>G mutations in 7 patients(1.97%).GJB3 gene c.538C>T heterozygous mutations was found in 1 patients. Conclusion The mutations of GJB2 and SLC26A4 gene are two major pathogenic genes for patients with NSHL in Guizhou province.Our study provides a theoretical basis for the early diagnosis,genetic counseling and treatment of deafness.
4.Methylation status of CpG islands in the promoter region of IGFBP7 gene in human melanoma cell lines
Yanning XUE ; Hao CHEN ; Wuqing ZHOU ; Yuping CAO ; Yue TAO ; Xuesi ZENG ; Jianfang SUN
Chinese Journal of Dermatology 2012;45(10):714-717
Objective To assess the relationship of methylation status of CpG islands in the promoter region of insulin-like growth factor binding protein 7 (IGFBP7) gene with the expression of IGFBP7 gene in human melanoma cell lines and primary melanocytes.Methods Primary melanocytes from human forcskin tissue as well as 4 human melanoma cell lines,including A375,M14,SK-MEL-1 and MV3,were used in this study.Bisulfite sequencing PCR (BSP) was applied to detect the methylation status of 54 CpG sites in the 5'-flanking promoter region of IGFBP7 gene in all of the melanoma cell lines and primary melanocytes.Results As hierarchical cluster analysis showed,IGFBP7-positive cells (including A375,M14 and SK-MEL-1 ) differed significantly from IGFBP7-negative cells (including MV3 cells and primary melanocytes) in the methylation pattern of IGFBP7 gene promoter region.Conclusion The methylation status of CpG island in the promoter region of IGFBP7 gene may be associated with its expression in melanoma cell lines.
5.Fabrication of Walking Function Orthosis for Patients with Leg Length Discrepancy
Shen-Si YAO ; Xue-Jun CAO ; Lin WANG ; Tao JIANG
Chinese Journal of Rehabilitation Theory and Practice 2018;24(2):233-236
Objective To study the design and fabricating method of orthosis for patients with leg length discrepancy. Methods Ischial weight bearing orthosis with prosthetic feet was made through efforts from weight,beauty and durabili-ty.The fabrication process included taking a negative plaster cast,modifying the positive model,forming,align-ment,and fitting the device to the patients. Results The orthosis was compensated for the patients'height with good appearance and convenience wearing. Conclusion Ischial weight bearing orthosis with prosthetic feet can help patients reconstruct walking function,therefore can be recommended.
6.Effects of endoplasmic reticulum stress and its related apoptosis on selective death of dopaminergic neurons
Lan WANG ; Sheng-Gang SUN ; Xue-Bing CAO ; Zhen-Tao ZHANG ; Li XU ;
Chinese Journal of Geriatrics 2003;0(11):-
Objective To explore the effects of endoplasmic reticulum stress response(ERS) and its related apoptosis on dopaminergic neurons death.Methods NGF treated-PC12 cells were treated with 6-OHDA,MPP+ and rotenone.MTT assay and flow cytometry were used to measure the cell viability and the rate of cells apoptosis induced by those neurotoxins at different concentrations and times.The expressions of ERS-related gene XBP1,Grp78,CHOP,caspase-12 in drug-treated group and reserpine preincubation group were determined by RT-polymerase chain reaction(RT-PCR) and immunohistochemistry.Results After exposing to different concentration toxins,the vitality of PC12 cells was decreased by 52% at 100?mol/L 6-OHDA,by 44% at 75?mol/L MPP~+,and by 40% at 20 nmol/L rotenone for 24 hours respectively and ws decreased in a dose dependent manner. FCM assay confirmed time-dependent cell apoptosis.The apoptotic cells ratio of 24 h groups were (31.22?3.21)%,(27.46?2.35)%,(29.26?2.53)%,respectively(P<0.01).In 6-OHDA groups,the gene expressions of XBP1,Grp78 were approximately 2-fold increased after 8 h exposure, CHOP reached peak level at 16 h(149.5?3.3% vs 35.9?1.8%,P<0.01).The transcription level of caspase-12 was significantly higher than normal control at 16h[(95.4?2.8% vs(23.8?3.0)%, P<0.01],but was alleviated by reserpine prcincubation(62.15?4.3%,P<0.05).The increased expressions of Grp78 and CHOP after drug exposure were confirmed by immunochemistry stain.The similar results were observed in MPP~+ and rotenone groups.Conclusions The excessive ERS and ERS-activated cell apoptosis pathway may be involved in selective death of dopaminergic neurons.
7.Regulation of single herb pilose antler on the expression of Smad2 and Smad3 in the cartilage of OA rats: an experimental research.
Wei NIU ; Zhi-Tao SUN ; Xue-Wei CAO ; Mu-Xun WANG ; Zheng YAN ; Da GUO ; Yue-Guang FANG
Chinese Journal of Integrated Traditional and Western Medicine 2014;34(2):209-213
OBJECTIVETo observe the effect of single herb pilose antler (PA) on the expression of Smad2 and Smad3 in the cartilage of osteoarthritis (OA) rats.
METHODSOne hundred 3-month old female healthy SD rats, (200 +/- 20) g, were recruited and routinely fed for 1 week. They were randomly divided into 5 groups, i.e., the low dose PA group, the high dose PA group, the normal saline control group, the model group, and the normal control group, 20 in each group. The model was prepared using classic Hulth method except the normal control group. After 6-week modeling, the model was confirmed successful by pathologic observation. PA at 0.021 g/100 g and 0.084 g/1 00 g was given by gastrogavage to rats in the low dose PA group and the high dose PA group respectively. Normal saline was administered to those in the normal saline control group. No treatment was given to rats in the normal control group and the model group. Bilateral knee cartilages were harvested at week 2,4, and 6. mRNA and protein expressions of Smad2 and Smad3 were detected by immunohistochemical assay, fluorescent quantitative PCR, and Western blot.
RESULTSOA model was successfully prepared by pathological observation. Results of immunohistochemical assay showed that Smad2 and Smad3 expressed extensively in the cartilage, and located inside the chondrocyte membrane. Compared with the model group, mRNA expression of Smad2 and Smad3 obviously increased in the low dose PA group and the high dose PA group at week 2, 4, and 6, showing statistical difference (P < 0.05). Compared with the same group at week 4 after gastrogavage, mRNA expression of Smad2 and Smad3 obviously decreased in the low dose PA group and the high dose PA group at week 6, showing statistical difference (P < 0.05). Compared with the model group, protein expression of Smad2 and Smad3 obviously increased in the chondrocytes of the low dose PA group and the high dose PA group at week 2 and 4, showing statistical difference (P < 0.01). Compared with the same group at week 2 after gastrogavage, protein expression of Smad2 and Smad3 obviously increased in the low dose PA group and the high dose PA group at week 4, showing statistical difference (P < 0.01). Compared with the same group at week 4 after gastrogavage, protein expression of Smad2 and Smad3 obviously decreased in the low dose PA group and the high dose PA group at week 6, showing statistical difference (P < 0.01).
CONCLUSIONS(1) The pilose antler could repair cartilages by regulating mRNA and protein expressions of Smad2 and Smad3. (2) Up-regulating mRNA and protein expressions of Smad2 and Smad3 might be one of important mechanisms for the pathogenesis of OA.
Animals ; Antlers ; chemistry ; Cartilage ; cytology ; metabolism ; Chondrocytes ; drug effects ; metabolism ; Female ; Medicine, Chinese Traditional ; Osteoarthritis ; drug therapy ; metabolism ; Rats ; Rats, Sprague-Dawley ; Smad2 Protein ; metabolism ; Smad3 Protein ; metabolism
8.Mental health status of 990 rural community elderly and its associated factors in Chongqing
Daijiang ZHANG ; Xiaolin TAN ; Xue CHENG ; Bo WANG ; Jianchu ZHOU ; Guoxing CAO ; Liming CHEN ; Tao LIU ; Yuan LI
Chongqing Medicine 2014;(7):775-778
Objective To explore mental health status of rural elderly and itassociated factors of mental health in Chongqing . Methods Totally 990 rural community residents aged 60 years or more were selected by multi-stage stratified random sampling and investigate with self-designed screening inventory to pick out suspect psychosis ,then diagnose according to DSM-Ⅳ and CCMD-3 . For no psychosis ,investigated with symptom self-assessment scale(SCL-90) ,newfoundland happiness scale ,social support rating scale ,eysenck personality questionnaire short form scale (China) .Results (1) In 990 the elderly ,the screening positive rate was 24 .04% (238/990) ,prevalence rate was 19 .43% (193/990) .Diagnosis were mental disorders caused by acohol(11 .4% ) ,mental dis-orders due to physical dysfuction (5 .96% ) ,mood disorders and other psychiatric disorders (2 .12% ) .(2)17 .17% (124/722) rural elderly had psychological problems in 799 non-mental health elderty ,in which the screening positive rate and total scores of SCL-90 in family group were significant higher than the institute group screening positive rate (screening positive 20 .24% vs .3 .73% ,χ2 =20 .90 ,P=0 .000 ;total scores(109 .14 ± 11 .77)vs .(100 .59 ± 7 .87) ,t= -8 .01 ,P= 0 .000) .(3)According to the total score of SCL-90 ,those female ,without spouse ,negative life events ,live alone ,with chronic disease ,with little income had worse mental health(P<0 .05) .(4)Total score of SCL-90 in rural elderly was significant negatively correlated with total score of happiness ,posi-tive emotions ,positive experience ,all dimensions of social support and internal and external .the score was significant positively cor-related with negative emotions ,negative experience ,neuroticism ,psychoticism ,the differences were statistically significant ( P<0 .05) .(5)Negative emotional ,mental quality ,chronic diseases ,endowment way ,marital status ,whether to live alone ,total score of social support ,neurotic entered the regression equation ,determination coefficient R2 =0 .346 .Conclusion More than 1/3 of the ru-ral elderly with mental health problems ,the pension way was the most obvious impact .prevention and treatment of alcohol-induced mental disorders ,changes in pension mode was still the focus of rural elderly mental health work .
9.The measurement of medical students' learning passion and the logistic regression analysis of influ-ence factors
Siao GE ; Tao SUN ; Wei ZHANG ; Huan JIANG ; Yachao ZHANG ; Xue ZHOU ; Xing MA ; Zhou XING ; Libin YANG ; Depin CAO
Chinese Journal of Medical Education Research 2016;15(9):870-875,876
Objective To measure the learning passion of medical students and evaluating its in-fluencing factors. Methods Taking 879 medical students as research subjects to conduct a questionnaire survey according to specialty and grade stratified sampling. The questionnaire contained two parts, includ-ing learning passion scale and general situation questionnaire. The effective recovery rate was 69.28%, 609 valid questionnaires were recovered. SPSS 22.0 and AMOS 21.0 software were used for statistical analysis of data, analyzing the reliability and validity of the questionnaire with internal consistency reliability coeffi-cient and confirmatory factor analysis. The factors of learning passion of medical students were analyzed by logistic regression analysis. Results The questionnaire of learning passion of medical students contained 12 measurement items, including 2 dimensions: harmonious passion and obsessive passion. The questionnaire was of fine reliability (Cronbach's Alpha=0.916) and validity (χ2/df=3.401,RMSEA=0.073,GFI=0.958). The
learning passion of medical students was at upper middle level (4.390±0.934). The influence of achievement level (OR=1.691, 95%CI=1.415 to 2.021), school satisfaction (OR=0.586, 95%CI=0.402 to 0.854) and profession plan (short-term plan OR=2.121, 95%CI=1.310 to 3.434;long-term plan OR=3.822,95%CI=1.972 to 7.405) on learning passion were statistically significant. Conclusion The questionnaire of learning pas-sion of medical students has fine reliability and validity. Achievement level, school satisfaction and profes-sion plan are factors affecting the learning passion of medical students.
10.Haploidentical allogeneic hematopoietic stem cell transplantation for blastic plasmacytoid dendritic cell neoplasm: a case report and literatures review.
Hong Gang CAO ; Tao WU ; Min GUO ; Rui XI ; Tian Tian LIU ; Feng XUE ; Cun Bang WANG ; Hai BAI
Chinese Journal of Hematology 2018;39(8):674-675