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OBJECTIVE@#To explore the genetic etiology of 5 cases of monochorionic-diamniotic (MCDA) with genetic discordance.@*METHODS@#148 cases of MCDA twins who were diagnosed by amniocentesis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2020 were selected as the study subjects. Relevant clinical data of the pregnant women were collected, and amniotic fluid samples of the twins were collected separately. Chromosomal karyotyping analysis and single nucleotide polymorphism array (SNP array) assay were carried out.@*RESULTS@#The results of chromosomal karyotyping analysis showed that 5 of the MCDA twins had inconsistent chromosome karyotypes, with an incidence of 3.4% (5/148). SNP array assay showed that 3 fetuses were mosaics.@*CONCLUSION@#Genetic discordance occurs among MCDA twins, and prenatal counseling for such cases should be given by doctors with experience in medical genetics and fetal medicine, and personalized clinical management should be recommended.
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Child , Pregnancy , Female , Humans , China , Twins/genetics , Amniocentesis , Karyotyping , Fetus , Twins, Monozygotic/genetics , Ultrasonography, Prenatal , Retrospective StudiesABSTRACT
Objective:To explore the genetic background in monochorionic diamniotic (MCDA) twins discordant for karyotypes.Methods:This study retrospectively analyzed four pregnant women who were diagnosed as having MCDA twins with prenatal diagnostic indications by ultrasound at Maternity and Child Health Care of Guangxi Zhuang Autonomous Region from January 2016 to December 2019. Dual amniocentesis was performed for all cases guided by ultrasound and the twin amniotic fluids were taken for karyotyping and single nucleotide polymorphism (SNP) array testing. Zygosity was determined by SNP genotype analysis.Results:The karyotypes of four MCDA twins were 47,XX,+18 and 46,XX, 45,X and 46,XX, 47,XXY[17]/46,XY[33] and 47,XXY, and 47,XX,+21 and 46,XX, respectively. The results of SNP were arr(18)×3 and arr(1-22,X)×2, arr(X)×1 and arr(1-22,X)×2, arr(X)×1~2,(Y)×1 and arr(X)×2,(Y)×1, arr(21)×3 and arr(21)×2~3. All of them were monozygotic twins according to the SNP genotypes. Three out of the four cases chose to terminate the pregnancy due to fetal chromosomal abnormalities and one was lost to follow-up. One gave birth to a healthy child in the next pregnancy.Conclusions:Clinicians should be alert to the discordant karyotypes in MCDA twins, of which the mechanism is yet to be explored.
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Objective To investigate clinical efficacy and prognostic factors of hilar cholangiocarcinoma.Methods The retrospective case-control study was conducted.The clinicopathological data of 322 patients with hilar cholangiocarcinoma who were admitted to the Xiangya Hospital of Central South University between December 2005 and November 2015 were collected.Preoperative staging and classification of tumor and treatment planning were carried out according to the results of laboratory and imaging examinations.Observation indexes:(1) clinical features and results of assisted examinations;(2) treatments and results of pathological examination;(3) followup and survival;(4) prognostic factors analysis:gender,age,preoperative highest total bilirubin (TBil),preoperative carcinoembryonic antigen (CEA),preoperative CA19-9,preoperative CA242,preoperative CA125,treatment methods and TNM staging.The follow-up of outpatient examination and telephone interview was perfornmed to detect patients' survival up to November 2016.Survival curve was drawn using the Kaplan-Meier method.Survival and univariate analyses were done using the Log-rank test,and multivariate analysis was done using the Cox proportional hazard model.Results (1) Clinical features and results of assisted examinations:among the 322 patients,there were 301 patients with a chief complaint of jaundice.Of the 322 patients,the preoperative highest levels of TBil,DBil,ALT and AST in 322 patients were 3.9-785.2 μmol/L,1.6-410.2 μ mol/L,14.8-484.5 U/L and 21.4-539.8 U/L,respectively.Levels of ALP and GGT in 272 patients were 93.8-1 890.0 U/L and 2.0-1 832.8 U/L,respectively.Seventy-seven of 292 patients had an elevated CEA level,272 of 298 patients had an elevated CA19-9 level,153 of 260 patients had an elevated CA242 level and 86 of 260 patients had an elevated CA125 level.According to Bismuth-Corlette type,24 patients were detected in type Ⅰ,115 in type Ⅱ,55 in type Ⅲa,63 in type Ⅲb and 65 in type Ⅳ.(2) Treatments and results of pathological examination:Of the 322 patients,104 patients underwent radical resection,including 79 with hilar bile duct resection (9 combined with vascular resection and reconstruction) and 25 with extended hepatic lobectomy (16 combined with caudate lobectomy),and 218 patients underwent palliative treatments,including 134 with external biliary drainage and 84 with internal biliary drainage.Five patients were dead in the perioperative period,of which 2 died of acute liver failure,1 died of systemic infection and multiple organ failure,1 died of acute renal failure and 1 died of acute suppurative cholangitis,septic shock and disseminated intravascular coagulation.Of 263 patients receiving pathological examination,adenocarcinoma was detected in 253 patients (12 with high-differentiated adenocarcinoma,85 with moderate-differentiated adenocarcinoma,33 with low-differentiated adenocarcinoma and 123 with indefinite differentiation),mucinous adenocarcinoma in 5 patients,cholangiocarcinoma in 3 patients and neuroendocrine carcinoma in 2 patients.TNM staging of 322 patients:stage Ⅰ was detected in 8 patients,stage Ⅱ in 53 patients,stage Ⅲ in 132 patients,stage Ⅳ in 96 patients and indefinite stage in 33 patients.(3) Follow up and survival:among the 322 patients,296 were followed up for 12-132 months,with a median follow-up time of 65 months,including 94 with radical resection and 202 with palliative treatments.Among the 296 patients,the median survival time and 1-,3-,5-year survival rates were 10 months,47.1％,20.2％ and 9.5％,respectively.0f296 patients with follow-up,median survival time and 1-,3-,5-year survival rates were 31 months,84.0％,46.2％,25.0％ in 94 patients receiving radical resection and 7 months,29.9％,8.1％ and 2.3％ in 202 patients receiving palliative treatment,respectively,with a statistically significant difference between the 2 groups (x2=78.777,P＜ 0.05).Among the 94 patients receiving follow-up and radical resection,the median survival time and 1-,3-,5-year survival rates were 31 months,82.1％,45.1％,25.7％ in 73 patients undergoing hilar bile duct resection and 35 months,90.5％,49.8％,22.1％ in 21 patients undergoing hepatic lobectomy,respectively,with no statistically significant difference (x2=0.186,P＞0.05).Among the 73 patients undergoing hilar bile duct resection,median survival time and 1-,3-,5-year survival rates were 16 months,57.1％,0,0 in 7 patients combined with vascular resection and reconstruction and 34 months,84.6％,49.5％,27.5％ in 66 patients undergoing simplex hilar bile duct resection,respectively,showing a statistically significant difference (x2 =11.977,P＜ 0.05).(4) Prognostic factors analysis:results of univariate analysis showed that preoperative highest TBil,preoperative CEA,preoperative CA242,preoperative CA125,treatment methods and TNM staging were related factors affecting prognosis of patients with hilar cholangiocarcinoma (x2=25.009,18.671,9.359,33.628,94.729,77.136,P＜0.05).Multivariate analysis showed that preoperative highest TBil ≥ 342.0 μmol/L,preoperative CEA ≥ 5.00 μg/L,palliative treatments,TNM stage Ⅲ and Ⅳ were the independent risk factors affecting the poor prognosis of patients with hilar cholangiocarcinoma (HR =2.270,2.147,3.166,2.351,95％ confidence interval:1.587-3.247,1.446-3.188,2.117-4.734,1.489-3.712,P＜0.05).Conclusions Prognosis of hilar cholangiocarcinoma is still unsatisfactory.The R0 resection is the key in radical surgery.Preoperative highest TBil≥342.0 μmol/L,preoperative CEA ≥ 5.00 μg/L,palliative treatments,TNM stage Ⅲ-Ⅳ are independent risk factors affecting the poor prognosis of patients with hilar cholangiocarcinoma.
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OBJECTIVE:To investigate the clinical efficacy of Bacterial lysates capsule in the treatment of acute attack of asthma in children,and its effects on inflammatory factors and respiratory mechanics indexes.METHODS:A total of 87 children with acute attack of asthma in our hospital were divided into observation group (44 cases) and control group (43 cases).Control group was given glucocorticoid Beclomethasone dipropionate aerosol 0.05 mg,tid;observation group was additionally given Bacterial lysates capsule 3.5 mg,qd,on the basis of control group.Both groups received 120 days of treatment.Peripheral Thl/Th2 cell factor levels (IFN-γ,IL-2,IL-4,IL-5,IL-10,IL-13),lung function indexes (FVC,FEV1,PEF),respiratory mechanics indexes (mean airway pressure,respiratory resistance,static compliance,measured plateau pressure) and clinical efficacies were observed in 2 groups.RESULTS:Before treatment,there was no statistical significance in Th1/Th2 cell factors,lung function indexes or respiratory mechanics indexes between 2 groups (P＞0.05);after treatment,the levels of IFN-γ,IL-2,IL-10,FVC,FEV1 and PEF were increased significantly,while the levels of IL-5 and IL-3 were decreased significantly;IL-4 level of control group was decreased significantly;the levels of IL-2,IL-4,IL-10,FVC,FEV1 and PEF in observation group were significantly better than control group,with statistical significance (P＜0.05).Mean airway pressure,respiratory resistance and measured plateau pressure of observation group were significantly lower than those of control group,while static compliance was significantly higher than control group,with statistical significance (P＜0.05).Response rate of clinical control in observation group was 77.27％,which was significantly higher than 55.81％ of control group,with statistical significance (P＜0.05).CONCLUSIONS:Bacterial lysates capsule shows significantly therapeutic efficacy for acute attack of asthma,relieves airway inflammation and improves the immunity level of the body so as to improve airway respiratory mechanics parameters.
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Aim To investigate the effect of resveratrol on ROS level and PECAM-1 expression in ox-LDL-stimulated platelets. Methods The expression of PE-CAM-1 , Sirt1 and p38 MAPK phosphorylation in ox-LDL-stimulated platelets was determined by Western blot. The level of ROS was measured by immunofluo-rescence kit. Results ox-LDL induced platelet aggre-gation by 14%, whereas resveratrol inhibited platelet aggregation by 50%. Resveratrol decreased ROS level by 3 . 2 fold and completely suppressed PECAM-1 expression in ox-LDL-treated platelets. Resveratrol re-covered Sirt1 expression in ox-LDL-treated platelets. EX527 ( a Sirt1 inhibitor ) increased ROS level and PECAM-1 expression in ox-LDL-stimulated platelets. Meanwhile, resveratrol also suppressed p38MAPK phosphorylation induced by ox-LDL. Conclusion Resveratrol can inhibit platelet aggregation, decrease ROS production and PECAM-1 expression in ox-LDL-stimulated platelets. The mechanism maybe associated with recovery of Sirt1 expression. Moreover, resveratrol can decrease PECAM-1 expression, which may be linked to abolishing p38MAPK phosphorylation.
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The association of serum uric acid ( SUA ) and urine albumin-to-creatinine ratio ( ACR ) in patients with type 2 diabetes mellitus was explored. The ACR abnormal rate was higher in hyperuricemia group( P＜0.01 ). ACR level was positively correlated with SUA( P＜0.01 ). The general linear model showed that SUA was a risk factor in ACR. Patients with hyperuricemia and type 2 diabetes mellitus were apt to have abnormal ACR and develop early renal damage.
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Objective To explore the possible correlation between HbA1c level and nutritional status in community.based patients with type 2 diabetes.Methods A totaI of 219 type 2 diabetes patients were assigned into 2 groups:one with HbAIc<6.5%(n:108)and HbA1f≥6.5%(n=111).Metabolic parameters,food components.and nutritional status were compared between 2 groups.Results (1)49.32% of the participants attained HbA1c<6.5%.(2)HbA1c level was positively correlated with fasting plasma glucose,postprandial plasma glucose,and homeostasis assessment for insulin resistance(HOMA-IR)(r were 0.56,0.49,and 0.20,respectively,P<0.05 or P<0.01),but negatively correlated with high-density lipoprotein-cholesterol(HDL-C)(r=0.16,P<0.05).(3)Linear regression analysis showed that energy,carbohydrate,protein,and fat were the independent risk factors of HbA1c(all P<0.05).(4)Patients with HbA1c<6.5%consumed more fruits.The intake of pure energy-providing foods and protein-,fat-,or saturated fatty acid-rich foods were more frequent in patients with HbA1c≥6.5%(P<0.05).(5)The linear regression revealed that HbA1c level were decreased 0.36%(P<0.10)or 0.46%(P<0.01)by intake of more fruits,roughage and beans,and HbA1c levels were also decreased 0.42%(P<0.05)or 0.37%(P<0.10)by intake of less meat or oils.Conclusions In communitybased patients with type 2 diabetes mellitus,the incidence of HbA1c<6.5% remains low,There exists great difference in nutritional status between the groups with high and low HbA1c levels.The impact of diet OB HbA1c level is great.It's necessary to emphasize the importance of diet therapy far better diabetes control.
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Objective To observe the effect of high-dose vitamin C on MMP2 expression and invasive ability in PANC-1. Methods Transwell invasion assay was used to compare the invasive ability of PANC-1 cells in different concentrations of vitamin C treated groups. RT-PCR and Western blot were used to detect and compare the levels of MMP2 mRNA and protein expression in each group. Results Compared with the 0mM vitamin C treated group, the mRNA expression of MMP2 was significantly decreased in 1.0,5.0,10. 0mM group(0. 510 ±0. 004 vs 0. 792 ±0. 006, 0. 391 ±0. 007 vs 0. 792 ±0. 006, 0. 282 ±0. 008vs 0. 792 ± 0. 006, P ＜ 0. 05 ). Compared with the 0mM vitamin C treated group, the protein expression of MMP2 was significantly decreased in 1.0,5.0,10. 0mM group(0. 519 ±0. 004 vs 0. 761 ±0. 014,0. 310 ±0. 007 vs 0. 761 ±0. 014,0. 297 ±0. 008 vs 0. 761 ±0. 014, P ＜0. 05). Compared with the 0mM vitamin C treated group, the invaded cell number was significantly decreased in 1.0,5.0,10. 0mM groups ( 452 ± 22 vs653 ± 28,340 ± 32 vs 653 ± 28,409 ± 33 vs 653 ± 28, P ＜ 0. 05 ). Conclusion High-dose vitamin C can decrease the expression of MMP2 in PANC-1 cells, and weaken its invasive ability.
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Objective To study the mechanism of chemotherapy resistance caused by interleukin-6 (IL-6) in ovarian cancer cells and its related signal pathways. Methods Ovarian cancer cell lines A2780(IL-6 receptor positive, while non-IL-6-expressing and cisplatin/paclitaxel-responsive) and SKOV3 cell lines( overexpressing of IL-6 receptor and IL-6 and cisplatin/paclitaxel-resistant) were suitable models for this study. The effect of exogenous (a short period of treatment with recombination IL-6) and endogenous IL-6(by transfecting with plasmid encoding for sense IL-6 ) in A2780 cells or deleting of endogenous IL-6expression in SKOV3 cells (by transfecting with plasmid encoding for antisense IL-6) on the sensitivity to cisplatin and paclitaxel was investigated. Meanwhile, the mechanism of chemotherapy resistance caused by IL-6 in ovarian cancer cells and its related signal pathways were also analyzed. Results We found that both exogenous and endogenous IL-6 induce cisplatin and paclitaxel resistance in non-IL-6-expressing A2780 cells (the resistance multiple to cisplatin and paclitaxel was: exogenous, 6. 25 and 7.31; endogenous, 7. 13 -8. 34 and 7. 61 - 10. 70), while deleting of endogenous IL-6 expression in IL-6-overexpressing SKOV3 cells promotes its sensitivity to anticancer drugs ( the resistance multiple to cisplatin and paclitaxel was 0. 15 and 0. 10, 0. 10 and 0. 08). IL-6 significantly up-regulated the expression levels of mRNA and protein of drug resistance-associated genes, MDR1 and GST-π, and apoptosis-inhibiting genes, bcl-2, bcl-xL and XIAP in a dose-dependent manner in A2780 cells. In accordance with this finding, the mRNA and protein levels of MDR1 and GST-π enhanced in sense IL-6-transfected A2780 cells, and reduced in antisense IL-6-transfected SKOV3 cells compared with the corresponding parental and control vector-transfected cells, which had no difference. It was found that PD98059 [ mitogen-activated protein kinase-extracellular signalregulated kinase (MEK) inhibitor ] and wortmannin [ phosphatidylinositol 3-kinase (PI3K) inhibitor ]significantly antagonized IL-6-induced phosphorylation of extracellular signal-regulated kinase ( ERK ) and protein kinase B (Akt), respectively, and both of them blocked IL-6-induced cisplatin and paclitaxel resistance and the inhibitory effects of PD98059 and wortmannin were dependent on its concentration.Conclusions These data suggest that IL-6-induced chemoresistance may be associated with increase of both drug resistance-associated genes ( MDR1 and GST-π) and apoptosis-inhibiting genes ( bcl-2, bcl-xL and XIAP), and activation of MEK/ERK and PL3K/Akt. Therefore, modulation of IL-6 expression or its related signaling pathway may be a promising strategy of treatment for drug-resistant ovarian cancer.
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Objective To investigate the expressions of phosphatase and tensin homolog deleted on chromosome 10(PTEN) and P53 protein in cholangiocarcinoma and evaluate their possible relationship and clinical significance. Methods The expressions of PTEN and P53 in 36 cases of cholangiocarcinoma, eight cases of normal biliary duct and 30 cases of para-neoplastic tissue were detected by S-P immunohistochemistry method. Results The positive rate of PTEN protein expression was 63.89%(23/36) in cholangiocarcinoma, which was significantly lower than that in normal biliary duct (100%,8/8) and that in para-neoplastic tissue(100%,30/30), and which had no relationship with tumor locus, but was significantly correlated with the degree of differentiation and metastasis. The positive rate of P53 protein expression was 44.44%(16/36) in cholangiocarcinoma, which was significantly higher than that in normal biliary duct( 0%, 0/8) and that in para-neoplastic tissue (0%, 0/30), and it had no relationship with tumor locus and metastasis,but was significantly correlated with the degree of differentiation. The PTEN protein expression had correlation with the expression of P53. Conclusion The expression of PTEN protein was significantly lower in cholangiocarcinoma and significantly correlated with the degree of differentiation and metastasis other than the locus of tumor. The expression of P53 protein was associated with the degree of differentiation, but not with the tumor locus and metastasis. Moreover, The PTEN protein expression had correlation with the P53 expression.
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Objective To explore the expression and significance of DPC 4/Smad 4 and nm23-H1/NDPK in human pancreatic carcinoma. Methods The expressions of DPC 4/Smad 4 and nm23/NDPK were detected by immunohistochemical method in 34 pancreatic carcinoma tissues and 34 chronic pancreatitis tissues. Results The positive rate of DPC 4/Smad 4 expression was significantly higher in the chronic pancreatitis than in the pancreatic carcinoma(P
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Objective To construct the retroviral vector inserted SV40 large T antigen gene and transfect it into rat hepatocytes, analyze the status of SV40 large T antigen gene expression in rat hepatocytes, and to establish important basis for clinical hepatocytes transplanation. Methods Retroviral vector inserted SV40 large T antigen gene was(constructed) by DNA recombinant techniques in vitro, then the combinant vector was determined with enzyme(digestion) and sequencing and was transfected into the PA317 cell lines by liposome mediation and screened(anti-G4)18 positive clones. The viral titer was determined with the NIH3T3. After transfected into separated and purified rat primary hepatocytes, the SV40 large T antigen gene expression was detected by PCR and immunohistochemical (methods). Results (1)SV40 large T antigen gene fragment was inserted into retroviral vector in sense orientation. (2)The titer of pseudovirion packed by PA317 cell lines was 1.3?10~6CFU/ml. (3)SV40LT antigen gene was(integrated) into rat primary hepatocytes and its expression in transfected cells at 24 hour was higher than 96 hour (P
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0.05); in with ser um condition, the transfection efficiency in Dosper group was significant hi gher than that in Lipofectamine group (P