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Objective To explore the genetic mutation spectrum of patients with hypertrophic cardiomyopathy (HCM) and analysis the correlation of genotype phenotype.Methods Collect peripheral venous blood of the 51 cases unrelated HCM patients(35 male and 16 female) in the Beijing Anzhen Hospital of Capital Medical University from 2013 to 2016.Sequence whole exons of human and analysis seven major mutations of HCM including:MYBPC3、MYH7 、TNNT2、TNNI3 、MYL2 、TPM1 and ACTC1.Then compare the results with clinical characteristics.Results 24 patients(47.1％) had 22 kinds of pathogenicity or possibly pathogenicity mutations.The 90.9％ (20/22) of mutations only occurred one time,except MYH7 gene's 663 amino acid and the TNND gene's 157 amino acid which had twice.The mutations of MYBPC3,MYH7,TNNT2,TNNI3,MYL2,TPM1 and ACTC1 accounted for 45.8％ (11/24),20.8％ (5/24),12.5％ (3/24),8.3％ (2/24),8.3％ (2/24),4.2％ (1/24),and 0 respectively.No amphimutation had been found that causes illness or possibly.Through the comparison of clinical features between Genotype positive(24 cases) and negative(27 cases) patients:the incidence of syncope(19.6％ vs.7.8％,P ＜ 0.05),the largest left ventricular wall thickness[(22.8 ± 2.6) mm vs.(20.0 ± 3.4) mm,P ＜ 0.05],family history of HCM(20.8％ vs.0,P ＜0.05),percentage of apical hypertrophy(25.5％ vs.11.8％,P ＜ 0.05);The ratio of left ventricular outflow tract obstruction in MYH7 group was higher than MYBPC3 group (80.0％ vs.18.2％,P ＜ 0.05).Conclusion MYBPC3 is the most common mutation gene in HCM patients.Phenotype is more severe in geuotype positive patients than in genotype negative patients.Relationship between specific gene mutations and clinical phenotype requires further study.
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Objective To investigate whether miR-200b suppresses proliferation and induces apoptosis of non-small cell lung cancer cells by targeting DNMT3A. Methods A qRT-PCR was employed for detecting the expression of miR-200b in different non-small cell lung cancer cells and human bronchial epithelial cells. A549 cells were transfected with miR-200b mimics, scramble, DNMT3A-siRNA and control-siRNA, respectively. The scramble and control-siRNA were served the negative control of miR-200b mimics and DNMT3A-siRNA, respectively. Western blot assay was conducted to detect the expression of DNMT3A protein in A549 cells. MTT and Annexin V/propidium iodide staining were employed to detect the proliferation ability and apoptosis rate of A549 cells. The effects of miR-200b mimics and DNMT3A-siRNA on the proliferation and apoptosis rate of A549 cells were compared between groups. Results Results of qRT-PCR showed that the expression of miR-200b was significantly down-regulated in A549, H1299, L78 and H460 cells than that of 16HBE cells. Among them, the most obviously reduction was found in A549 cells (P<0.05). Western blot assay showed that the level of DNMT3A protein was inhibited by restored miR-200b or knock-down DNMT3A in A549 cells. After transfection of miR-200b mimics or knock-down DNMT3A for 48 h, 72 h and 96 h, MTT showed that the OD values, which reflected the optical density of cell proliferation were significantly lower than those in the control group (P<0.05). Annexin V/propidium iodide staining showed that apoptosis rates of A549 cells after transfection of miR-200b mimics or knock-down DNMT3A were (23.33%±0.90%and 20.41%±0.70%), compared with the control group (5.28%± 0.55%and 5.68%±0.47%, P<0.01). Conclusion miR-200b suppresses cell proliferation and induces apoptosis by targeting DNMT3A in non-small cell lung cancer.
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Objective To study the protective effect mechanism of Rosa laevigata Michx (RLM) on cardiotoxicity induced by adriamycin in rats. Method 30 SD rats were randomly into control group, doxorubicin group and RLM groups. The control group was injected with normal saline injection, while the model group was injected with adriamycin intraperitoneally at the dosage of 15 mg/kg every other day. For the RLM groups,1~5 g/kg RLM were given after adriamycin injection. The survival rate, plasma BNP was observed. Apoptosis of cardiomyocyte was detected by instituted-labeled DNA (TUNEL). The activity of GSH-PX, CAT and total SOD in the myocardium tissue were also observed. The expression level of CuZn-SOD , bcl-2 and bax were detected by real-time PCR. Results The survival rate was significantly improved in SD rats treated with RLM compared with that in the adriamycin group (P<0.01). The BNP level was increased when treated by adriamycin (P<0.01), and decreased after RLM administration (P<0.01). RLM could also upregulate the expression of the CuZn-SOD mRNA level, and enhance the activity of GSH-PX, CAT and T-SOD compared with that in adriamycin group. Adriamycin could induce myocardial cells apoptosis, as demonstrated by TUNEL. RLM could inhibit adriamycin-induced apoptosis, bax mRNA expression, and increase bcl-2 expression and bcl-2/bax ratio. Conclusion RLM exhibit some antioxidant activity through many stages, and the anti-apoptosis activity may be related to affect the expression of bax and bcl-2 expression.
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Objective To explore the clinical effect of blood purification combined with fasudil in elderly cardiac surgery patients with postoperative acute kidney injury.Methods Fifty elderly cardiac surgery patients with postoperative acute kidney injury were divided into control group and study group by random digit table method with 25 cases each.The 2 groups were treated with routine drug and blood purification,the study group was additionally given fasudil injection 30 mg + 0.9％ sodium chloride injection 50 ml vein pumping,1 time/12 h,for 7 d.The urine volume,urine N-acetyl-β-D-glucosaminidase (NAG),urine γ-glutamyl transpeptidase (γ-GTP),urine α 1-microglobulin (α 1-MG),serum creatinine (SCr),blood urea nitrogen (BUN) and creatinine clearance rate (CCr) were observed,and the acute physiology and chronic health evaluation (APACHE) Ⅱ score was computed.Results There were no statistical differences in the indexes before treatment between the 2 groups (P＞ 0.05).The urine volume after treatment 3,5,7 d in study group was more than that in control group [(38.72 ± 2.68) ml/h vs.(31.68 ± 2.52) ml/h,(47.24 ±3.73) ml/h vs.(40.24 ± 2.52) ml/h、(63.80 ± 2.50) ml/h vs.(56.60 ± 3.30) ml/h],urine NAG,urine α 1-MG,urine γ-GTP,SCr and BUN were lower than those in control group [NAG:(25.05 ±5.44) U/L vs.(28.04 ± 5.21) U/L,(24.06 ± 3.43) U/L vs.(27.23 ± 6.43) U/L,(22.08 ± 3.25) U/L vs.(26.23 ± 4.41) U/L; α 1-MG:(24.05 ± 3.65) mg/L vs.(26.74 ± 6.74) mg/L,(22.98 ± 3.58) mg/L vs.(25.57 ± 3.58) mg/L,(20.95 ± 3.78) mg/L vs.(25.48 ± 3.45) mg/L; γ-GTP:(8.2 ± 0.4) U/L vs.(10.8 ± 3.8) U/L,(7.3 ± 0.2)U/L vs.(10.5 ± 2.5) U/L,(6.5 ± 1.4) U/L vs.(9.7 ± 2.6) U/L; SCr:(206.52 ± 6.72) μ mol/L vs.(255.16 ±6.75) μmol/L,(182.98 ±6.26) μmol/L vs.(252.23 ±9.53) μmol/L,(33.25 ±7.95) μmol/L vs.(170.75 ± 7.94) μ mol/L; BU N:(19.61 ± 3.23) mmol/L vs.(20.25 ± 3.25) mmol/L,(16.76 ± 2.06) mmol/L vs.(18.32 ± 4.84) mmol/L,(12.28 ± 2.26) mmol/L vs.(14.27 ± 4.54) mmol/L],CCr was higher than that in control group [(18.66 ± 3.89) ml/min vs.(13.28 ± 3.25) ml/min,(27.76 ± 4.36) ml/min vs.(16.23 ± 4.18)ml/min,(33.79 ± 5.58) ml/min vs.(22.12 ± 4.65) ml/min],there were statistical differences (P ＜ 0.05).The APACHE Ⅱ score before treatment and after treatment 5,7 d in control group were (32.20 ±4.51),(26.38 ±5.28) and (21.43 ±4.22) scores,in study group were (33.05 ±3.82),(22.15 ±3.42) and (13.25 ± 2.15) scores.There was no statistical difference in the APACHE Ⅱ score before treatment (P ＞ 0.05),the APACHE Ⅱ score after treatment was improved,furthermore APACHE Ⅱ score after treatment 5,7 d in study group were better than those in control group,there were statistical differences (P ＜ 0.05).Conclusions The treatment effect of blood purification combined with fasudil is remarkable in elderly cardiac surgery patients with postoperative acute kidney injury.At the same time,it has high security and very important clinical significance.
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Objective To establish new classification criteria for early rheumatoid arthritis (E-RA) based on large samples of early inflammatory arthritis patients and to evaluate the value of this criteria in China.Methods Patients who had arthritic complaints with disease duration less than one year were enrolled.They were divided into RA group and non-RA group according to the clinical diagnosis by experienced rheumatologists.The clinical and laboratory parameters were analyzed and those with high sensitivity or specificity were selected as the new classification criteria.Statistical analysis was carried out by using t test,x2 test and Logistic regression.Results ① A total of 803 patients with early inflammatory arthritis were included in this study.Five hundreds and fourteen patients were diagnosed as early RA and 251 were diagnosed as other rheumatic diseases,and the diagnosis of 38 patients remained unestablished by the end of follow-up.② New E-RA classification criteria were established based on the parameters with high sensitivity and/or specificity.The sensitivity of the new E-RA criteria was 84.4％,which was higher than 1987 ACR criteria (58.0％),while the corresponding specificities were similar,which were 87.4％ and 93.6％ respectively.③ Compared with the complex scoring system of 2010 ACR/EULAR criteria,the E-RA criteria was more simple and practical.The diagnostic sensitivity and specificity of E-RA criteria were higher than those of 2010 ACR/EULAR criteria reported in the literatures.④ New classification criteria based on scoring system using Logistic regression analysis was established.The sensitivity of this criteria was 86.4％,which was higher than 1987 ACR criteria (58.0％).Conclusion The diagnostic value of the E-RA criteria developed in this study for early RA is better than 1987 ACR criteria,and is more simple than 2010 ACR/EULAR criteria.It may be used as a new classification criteria for early RA diagnosis.
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Objective To study the expressions of PTTG and bFGF proteins and their relationship with microvessels density(MVD)in esophageal carcinoma.Methods Immunohistochemical SP method was used to detect the expression of PTTG and bFGF proteins in 48 esophageal carcinoma tissues and the same para-cancerous tissues.MVD was evaluated by immunohistochemieal staining with antibody CD34.Results The positive rate of PTTG and bFGF was 68.8%(33/48)and 70.8%(34/48)respectively.Rate of PTTG protein expression in esophageal carcinoma tissues was significantly higher than that in para-cancerous tissues(8.3%and 12.5%,P＜0.05).The positive rate 0f PTTG,bFGF and MVD was correlated with lymph node metastasis and TNM stage.There was no relationship with age,sex,tumor size MVD(P＜0.05).Conclusion PTTG and bFGF are over-expressed in esophageal carcinoma.Increased PTTG may play an important role in carcinogenesis and development of esophageal carcinoma by promoting the expression of bFGF protein which may induce an angiogenesis.
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In order to study the effects of ethyl pyruvate on cardiomyocyte apoptosis following ischemia/reperfusion (I/R) in vitro and the expression of Bcl-2 and Bax proteins, isolated rat hearts were perfused in a Langendorff model. Twenty-four rats were randomly divided into 3 groups (n=8 in each group): control group was perfused for 120 min. In the I/R group, after 30 min stabilization the injury was induced by 30 min global ischemia followed by 60 min reperfusion. Ethyl pyruvate (EP) group was set up with the same protocol as I/R group except that it was supplied with 2 mmol/L EP 15 min before ischemia and throughout reperfusion. Myocardial malonaldehyde (MDA) content was measured. Myocardial apoptotic index (AI) was tested by terminal deoxynucleotidyl transferase mediated dUTP nick end labeling (TUNEL) method. The expression of anti-apoptotic protein Bcl-2 and pro-apoptotic protein Bax in cardiac myocytes was detected by immunohistochemistry. As compared with control group, the content of MDA, myocardial AI and the expression of Bcl-2, Bax proteins were increased significantly in I/R group, but the content of MDA, myocardial AI and the expression of Bax protein were decreased obviously and the expression of Bcl-2 protein was up-regulated in EP group (P<0.05). These results demonstrate that EP could inhibit apoptosis of cardiac myocytes possibly via alleviating oxidative stress, up-regulating Bcl-2 and down-regulating Bax proteins.