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Objective To clarify the intervention effect of Angelica Radix Astragali ultrafiltrate(RAS-RH)on radiation-induced myocardial fibrosis by inhibiting the overexpression of cardiac CILP1.Methods Forty SPF Wistar male rats were randomly divided into normal group,model group,Benazepril hydrochloride group,RAS-RH group and Benazepril hydrochloride +RAS-RH group.Cardiomyocytes were induced by X-ray.The rat model of myocardial fibrosis was prepared by injury.The benazepril hydrochloride group was given benazepril hydrochloride 1.0 mg·kg-1 by gavage;the RAS-RH group was given RAS-RH 0.6 g·kg-1 by gavage;benazepril hydrochloride was given by gavage Pril + RAS-RH group was given benazepril hydrochloride 1.0 mg·kg-1 and RAS-RH 0.6 g·kg-1 by gavage;model group and normal group were given equal volume of normal saline by gavage,once a day,After 4 weeks of drug intervention,the serum NT-ProBNP,CTnⅠ and CTnT contents of the rats in each group were detected by ELISA method;HE staining was used to evaluate the pathological changes of myocardial tissue of the rats in each group;Masson staining was used to evaluate the myocardial collagen deposition of the rats in each group and calculated Collagen volume fraction(CVF);immunohistochemistry to detect the expression levels of α-SMA,Col-Ⅰ,Col-Ⅲ protein in myocardial tissue of rats in each group;Western blot method to detect TGF-β1 and smad3 in myocardial tissue of rats in each group,CILP1 protein expression.Results Compared with the blank group,the serum levels of NT-ProBNP,CTnⅠ and CTnT in the model group were significantly increased(P<0.01).Blue-stained fibrous tissue increased significantly,myocardial CVF increased significantly,and myocardial tissue α-SMA,Col-Ⅰ,Col-Ⅲ,TGF-β1,Smad3,CILP1 protein expression increased(P<0.01);Serum contents of NT-ProBNP,cTnⅠ and CTnT in rats in napril group,RAS-RH group and benazepril hydrochloride + RAS-RH group were significantly decreased(P<0.01).Sexual cell infiltration was improved,myocardial CVF was significantly decreased(P<0.01),and the protein expressions of α-SMA,Col-Ⅰ,Col-Ⅲ,TGF-β 1,Smad3 and CILP1 in myocardial tissue were significantly decreased(P<0.05).Conclusion Angelica sinensis ultrafiltrate can alleviate X-ray radiation-induced myocardial fibrosis in rats by inhibiting the overexpression of CILP 1 in the heart.
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AIM: To study the mechanism of Ginseng Yixin granules (QSYXG) in treating ejection fraction preserved heart failure (HFpEF) based on network pharmacology. METHODS: Effective chemical composition information of QSYXG particles was collected through TCMSP database; DisGeNET, GeneCards, OMIM database for obtaining HFpEF related targets; Metascape GO and KEGG enrichment analysis of the intersection targets of HFpEF; STRING Construction and analysis of the database PPI network; Cytoscape3.7.2 Software construction network diagram; Docking of the major active components to the core target with the AutoDock Vina software molecules, the results were visualized and analyzed with pymol. RESULTS: A total of 66 components and corresponding targets were obtained, HFpEF corresponds to 1 931 targets, The intersection of 127 targets, the main active ingredients are quercetin, kaempferol, β-sitosterol, etc.; TNF, AKT1, IL-6, P53 and JUN as the core targets, Good docking of the key components with the core targets; Mainly involving the positive regulation of gene expression, signal transduction, negative regulation of apoptotic process, positive regulation of cell proliferation and senescence, hypoxia response, negative regulation of gene expression, inflammatory response and so on, PI3K-Akt, AGE-RAG, MAPK, TNF, IL-17, and HIF-1 are the main associated signaling pathways. CONCLUSION: QSYXG may treat HFpEF by activating targets of TNF, AKT1, IL-6, P53, JUN, and regulating apoptotic process, cell proliferation, hypoxia response, and inflammatory response.
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Dilated cardiomyopathy is a main disease that causes heart failure and exhibits etiological heterogeneity.Nearly a quarter of dilated cardiomyopathy in patients is related to genetics,and ventricular dilation and myocardial systolic dysfunction are the main characteristics of the disease.LMNA mutation is a major cause of hereditary dilated cardiomyopathy,and arrhythmia is a major clinical manifestation of hereditary dilated cardiomyopathy with LMNA mutation.In recent years,establishment of a dilated cardiomyopathy model in C57/B6 mice and its treatment by focused gene therapy has been a research focus,and some important conclusion have been drawn from the establishment of large animal models in dogs and pigs.However,large animals,especially non-human primates,are closer to humans.At present,dilated cardiomyopathy is not involved in the heart disease model of non-human primates.Therefore,this article reviews studies on rodent and large animal models of dilated cardiomyopathy at the genetic level and proposes the idea of developing a dilated cardiomyopathy model in a non-human primate.It also provides new ideas to study the pathogenesis and clinical treatment.
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Objective:To study the risk factors, cerebral hemodynamics and clinical outcomes of extremely and very preterm infants with severe intraventricular hemorrhage (IVH).Methods:From January 2019 to December 2019, premature infants with gestational age (GA) <32 w admitted to our hospital were assigned into severe IVH group and non-severe IVH group. Risk factors for severe IVH were analyzed. According to clinical outcomes, severe IVH group was further assigned into improvement subgroup and no-improvement subgroup. Cerebral hemodynamic parameters were compared between the two groups.Results:A total of 346 eligible neonates were enrolled in this study. The incidence of severe IVH was 11.0% (38 cases). The incidences of Grade Ⅲ and Ⅳ IVH were 8.7% (30/346) and 2.3% (8/346), respectively. Multivariate logistic regression analysis showed that CA < 28 w ( OR=4.365, 95% CI 1.055~18.054), 5 min Apgar score ≤7 ( OR=8.749, 95% CI 2.214~36.042), chorioamnionitis ( OR=3.245, 95% CI 1.127~9.344), PaCO 2 fluctuation within 1 h >25 mmHg ( OR=7.728, 95% CI 1.738~80.907) and vasoactive drugs usage ( OR=10.883, 95% CI 3.746~31.621) were the risk factors of severe IVH. 20 cases in severe IVH group were improved at discharge and 12 cases showed no improvement at discharge. Improvement subgroup showed quicker reduction of the middle cerebral artery flow resistance and faster recovery of the mean flow velocity than the no-improvement subgroup. Conclusions:GA <28 w, 5 min Apgar score ≤7, chorioamnionitis, PaCO 2 fluctuation within 1 h >25 mmHg and vasoactive drugs usage are risk factors of severe IVH in extremely and very preterm infants. Cerebral hemodynamic monitoring may provide initial assessment for the clinical outcomes for severe IVH.
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Objective:To explore the polymorphism of the uridine diphosphateglucuronosyl transferase 1A1 ( UGT1A1) gene in children of multiple nationalities with etiology-unknown neonatal hyperbilirubinemia in Qiubei County. Methods:Full-term neonates with unknown cause hyperbilirubinemia were collected.They were admitted to neonatal ward of Qiubei People′s Hospital from September 2017 to June 2018.All of them were performed UGT1A1 gene test. Results:A total of 100 neonates were enrolled in this study.Among them, 53 infants were Han, and others were minorities.Ten mutation sites of UGT1A1 gene were found.Five sites were never reported before and 4 sites could be pathogenic mutations.In addition, c.211G>A.was the most common genetic mutation, and 13 cases of homozygote and 32 cases of heterozygote were revealed by exome sequencing.The bilirubin levels of children with homozygote c. 211G>A were higher than those without the variation in this study and the differences were statistically significant ( t=2.621, P=0.008). The incidence of c. 211G>A mutation was similar between Han and minority nationalities.Among new-found mutations, c.1091C>CA heterozygous mutation was found in 19 children and in several nationalities, suggesting that this was a common UGT1A1 gene mutation in Qiubei County.Besides c. 211G>A and c. 1091C>CA were the most common variants.The incidence of c. 211G>A had no significant difference between Han and minority nationalities (χ 2=0.215, P=0.643). Neither had the incidence difference of c. 1091C>CA between Han and minority nationalities (χ 2=0.017, P=0.897). Conclusion:c. 211G>A and c. 1091C>CA mutations , which are distributed in both Han and minority nationalities, are common UGT1A1 mutations in Qiubei County.The distribution rate of c. 211G>A mutation is high in the population.The homozygous variation of c. 211G>A is associated with neonatal hyperbilirubinemia.
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Hyponatremia is one of the common electrolyte disorders with the prevalence up to 38%in hospitalized children,which has been associated with higher morbidity of seizures and cerebral edema. Hy-ponatremic encephalopathy is the most serious complication which can lead to severe irreversible sequelae and even death. Hyponatremia may aggravate the underlying disease and increase mortality,so timely and effec-tive correction of hyponatremia is important to clinical diagnosis and treatment,which can reduce disability and mortality.
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Aim To study the apoptosis effect of cucurbitacin Ⅱa on non-small cell lung cancer cell lines NCI-H460 and A549 and its underlying mechanism.Methods Cell viability was assessed by CCK-8 assay.The apoptosis effect and cell cycle arrest were detected by Flow cytometry.Western blot was employed to detect the related protein.Results The proliferation of lung cancer cell lines NCI-H460 and A549 was inhibited by CuⅡa, which showed cytotoxic activity with IC50 values of 224.9 nmol·L-1 and 108.3 nmol·L-1 against NCI-H460 and A549 respectively.CuⅡa induced the cells apoptosis and cell cycle arrest at G2/M phase.The results of Western blot showed CuⅡa inhibited the phosphorylation of STAT3 and Cofilin in a dose-dependent manner.Further, CuⅡa inhibited the phosphorylation of Aurora A, in line with the important characteristics of anti-tumor effect of Aurora A kinase inhibitor with blocking cells in the G2/M phase.Conclusion CuⅡa has obvious anti-tumor effect against non-small cell lung cancer, which suggests its value as a lead compound for lung cell carcinoma.
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The copy numbers of exogenous gene in transgenic animals is always regarded as an important information of transgenic animals.Thus,simple and sensitive methods are required for the detection of the copy numbers of exogenous gene.Three kinds of transgenic Shanbei white cashmere goats,containing Tβ4-GFP,FGF5s-GFP and VEGF164-GFP,has been obtained by using PiggyBac(PB) transposon system.Fluorescence quantitative PCR was carried out to detect the copy numbers of copGFP.Using Gluc as reference gene,the double standard curves of exogenous gene and reference gene were mapped and the genomic DNA of transgenic goats were analysized by real-time fluorescence quantitative PCR.Moreover,the copGFP/Gluc ratio in the samples was calculated as the copy numbers of copGFP.In addition,Tβ4-GFP transgenic cashmere goats were selected to detect the integration sites by using the genomic walking kit.The results showed that the standard curve equation of copGFP was y=-3.230 6x+39.216 (R2 =0.998 8) and the standard curve equation of Gluc was y=-3.564 8x+38.440 (R2 =0.996 0).The copy numbers of exogenous gene in the transgenic cashmere goats were obtained and the numbers of integration sites in the selected Tβ4-GFP transgenic goats were consistent with the copy numbers of copGFP.As a conclusion,the high throughput,fast and sensitive real-time fluorescence quantitative PCR is an efficient and convenient method for the copy number of exogenous gene in transgenic cashmere goats.
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Phytantriol (PT), ethanol (ET) and water were used to prepare in situ cubic liquid crystal (ISV2). The pseudo-ternary phase diagram of PT-ET-water was constructed and isotropic solution formulations were chosen for further optimization. The physicochemical properties of isotropic solution formulations were evaluated to optimize the composition of ISV2. In situ hexagonal liquid crystals (ISH2) were prepared based on the composition of ISV2 with the addition of vitamin E acetate (VitEA) and the amount of VitEA was optimized by in vitro release behavior. The phase structures of liquid crystalline gels formed by ISV2 and ISH2 in excess water were confirmed by crossed polarized light microscopy and small angle X-ray scattering, respectively. Rheological properties of ISV2 and ISH2 were studied by a DHR-2 rheometer. In vitro drug release studies were conducted by using a dialysis membrane diffusion method. Pharmacokinetics was investigated by determination of sinomenine hydrochloride (SMH) concentration in synovial membrane after intra-articular injection of SMH-loaded ISH2 in adjuvant-induced arthritis rats. The optimal ISV2 (PT/ET/water, 64 : 16 : 20, w/w/w) loaded with 6 mg x g(-1) of SMH showed a suitable pH, injectable and formed a cubic liquid crystalline gel in situ with minimum water absorption in the shortest time. The optimal ISV2 was able to sustain the drug release for 144 h. The optimal ISH2 system was prepared by addition of 5% VitEA into PT in the optimal ISV2 system. This ISH2 (PT/VitEA/ET/water, 60.8 : 3.2 : 16 : 20, w/w/w/w) was an injectable isotropic solution with suitable pH. The new ISH2 was able to sustain the drug release for more than 240 h. Local pharmacokinetics study indicated that the retention time and AUC(0-∞) of ISH2 group were increased significantly compared with that of SMH solution group and the AUC(0-∞) of ISH2 group was 6.01 times higher than that of SMH solution group. The developed ISH2 was suitable for intra-articular injection that may apply to patients in the treatment of rheumatoid arthritis.
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Objective To investigate the differences and significance of blood levels of T helper 17 (Th17) cell and interleukin17 (IL-17) between peripheral and culprit vessels in patients with acute coronary syndrome.Methods A total of 76 patients recruited in 2012 were divided into three groups according to the coronary angiography and clinical manifestations:acute coronary syndrome,stable angina and control groups.The blood samples were taken from cubital vein and culprit coronary artery after coronary angiography.The percentage of Th17s among CD4+ T cells was detected by flow cytometric analysis and the IL-t7 levels were measured by enzyme-linked immunosorbent assay.Results There was no significant difference in the percentages of Th17 cells between peripheral blood and culprit artery blood [(3.18 ± 0.29) % vs.(3.17 ±0.30)%,(P =0.919)];but the perecentages of Th17 in peripheral blood were found to be significantly higher in patients with acute coronary syndrome (3.18 ± 0.29)% than those with stable angina (1.32 ± 0.31) % and those without coronary heart disease (1.28 ± 0.33) %,(P < 0.01).There was no significant difference in the level of IL-17 between peripheral blood and culprit artery blood [(81.23 ± 18.63) vs.(82.37 ±20.51) pg/mL,P =0.573];but the level of IL-17 in peripheral blood was also significantly higher in patients with acute coronary syndrome than those with stable angina and those without coronary heart disease [(81.23 ± 18.63) vs.(25.96 ± 14.58) pg/mL or (23.75 ± 13.64) pg/mL,P <0.01].Conclution There were no significant differences in percentage of Th17 cell among CD4 + T cells and levels of IL-17 in blood between peripheral and culprit vessels in patients with acute coronary syndrome.The percentage of Th17 among CD4 + T cells and the levels of IL-17 in blood increase in patients with acute coronary syndrome suggesting a potential role of Th17 and IL-17 in the development and instability of the atheroma.
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Ataxia telangiectasia mutated (ATM) kinase plays an essential role in the maintenance of genomic stability. ATM-deficient (ATM(-/-)) mice exhibit hematopoietic stem cell (HSC) dysfunction and a high incidence of lymphoma. Gadd45a controls cell cycle arrest, apoptosis and DNA repair, and is involved in the ATM-p53 mediated DNA damage response. However, the role of Gadd45a in regulating the functionality of ATM(-/-) HSCs is unknown. Here we report that Gadd45a deletion did not rescue the defects of T-cells and B-cells development in ATM(-/-) mice. Instead, ATM and Gadd45a double knockout (ATM(-/-) Gadd45a(-/-)) HSCs exhibited an aggravated defect in long-term self-renewal capacity compared to ATM(-/-) HSCs in HSC transplantation experiments. Further experiments revealed that the aggravated defect of ATM(-/-) Gadd45a(-/-) HSCs was due to a reduction of cell proliferation, associated with an accumulation of DNA damage and subsequent activation of DNA damage response including an up-regulation of p53-p21 signaling pathway. Additionally, ATM(-/-) Gadd45a(-/-) mice showed an increased incidence of hematopoietic malignancies, as well as an increased rate of metastasis than ATM(-/-) mice. In conclusion, Gadd45a deletion aggravated the DNA damage accumulation, which subsequently resulted in a further impaired self-renewal capacity and an increased malignant transformation in ATM(-/-) HSCs.
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Animals , Ataxia Telangiectasia Mutated Proteins , Genetics , B-Lymphocytes , Pathology , Cell Cycle Proteins , Genetics , Cell Proliferation , Cyclin-Dependent Kinase Inhibitor p21 , Metabolism , DNA Damage , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Metabolism , Pathology , Leukemia , Genetics , Pathology , Lymphoma , Genetics , Pathology , Mice, Knockout , Neoplasm Metastasis , Nuclear Proteins , Genetics , T-Lymphocytes , Pathology , Tumor Suppressor Protein p53 , MetabolismABSTRACT
Objective To systematically evaluate the effectiveness of delayed cord clamping (DCC) in term infants. Methods The data of the Cochrane library, PubMed, EMBASE, CNKI , VIP, Wanfang from 1 January 1970 to 30 April 2013 were searched. Randomized controlled trials (RCT) of DCC in term infants were included.RevMan 5.1.0 was used in the statis-tical analysis. Results Ten studies involving 1623 participants were included. Meta-analysis based on included studies showed that:compared with immediate cord clamping (ICC), DCC improved the hemoglobin levels at birth (MD=2.19, 95%CI:0.36, 4.02) and increased the incidence of polycythaemia (RR=2.87, 95%CI:1.24, 6.62). Compared with ICC, DCC showed no signi-ficant difference in the phototherapy for hyperbilirubinemia (RR=2.46, 95%CI: 0.93, 6.52), the hemoglobin levels within 6 months (MD=0.29, 95%CI:-0.17, 0.75), and the incidence of anemia (RR=0.71, 95%CI:0.45, 1.12). Conclusions DCC can improve the hemoglobin level in term infants after birth. However, the appropriate time of cord clamping has not been deter-mined. It is necessary to undertake further studies with higher quality and larger scale to evaluate the optimal time of cord clam-ping.
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Objective To explore the changes in serum concentrations of angiogenic factors in patients with unstable angina pectoris.Methods A total of 60 patients with unstable angina pectoris was eligible for study and divided into diabetes group ( A group, n =20) and non-diabetes group (B group, n =40).Another 30 general-matched healthy subjects from medical examination center were enrolled as control group .Serum samples were collected , and serum concentrations of vascular endothelial growth factor (VEGF), angiopoietin-1, angiopoietin-2, angiogenin, angiostatin, basic fibroblast growth factor (bFGF), and platelet-derived growth factor-BB ( PDGF-BB) were measured by cytokine array technology and compared between the groups .Results Compared with the control group, the serum concentrations of VEGF [(325.2 ±210.1)pg/ml] and angiopoietin-2 [(3031.3 ±1865.5)pg/ml] were sig-nificantly increased in patients with unstable angina pectoris (both P <0.05).Whereas,no significant differences in serum concentra-tions of angiogenin,angiopoietin-1,angiostatin,bFGF,and PDGF-BB were detected between control group and patient groups .There were no significant differences in serum concentrations of above all 7 biomarkers between diabetes group and non-diabetes group .Con-clusions Serum concentrations of VEGF and angiopoietin-2 were increased in patients with unstable angina pectoris ,and diabetes didn't affect the increases in serum concentrations of VEGF and angiopoietin-2 caused by unstable angina pectoris .
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Objective To investigate the changes and clinical significance of serum total and high molecular weight adiponectin (HMW APN) levels in type 2 diabetic patients with non-alcoholic fatty liver disease (NAFLD).Methods Serum levels of total adiponectin and HMW APN were measured by ELISA,in 58 type 2 diabetic patients with nonalcoholic fatty liver disease (T2DM with NAFLD group),59 type 2 diabetic patients without nonalcoholic fatty liver disease (T2DM group),and 55 control subjects with normal glucose tolerance and without nonalcoholic fatty liver disease (NC group).Results (1) Alanine transaminase and total cholesterol levels were significantly higher in T2DM with NAFLD group than those in NC group(P<0.01),while body mass index (BMI),aspartate aminotransferase,triglyceride (TG),and fasting insulin were also significantly increased (P<0.05 or P< 0.01),and high density lipoprotein-cholesterol (HDL-C) were significantly decreased compared with those in NC and T2DM groups (P<0.01).(2) Total adiponectin,HMW APN,and the ratio of HMW APN to total adiponectin in T2DM group were lower than those in NC group.Total adiponectin and HMW APN levels in T2DM with NAFLD group were significantly lower than those in T2DM group(P<0.01).(3) Regression analysis showed that homeostasis model assessment insulin resistance index (HOMA-IR),TG,and HDL-C levels were independent predicting factors for total adiponectin and HMW APN levels.TG and BMI were independent risk factors for T2DM complicated with NAFLD,while total adiponectin and HMW APN levels were the protective ones (OR =0.701,0.489,respectively).Conclusions Hypoadiponectinemia may partially play an important role in the development and progression of NAFLD in T2DM.
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Objectives To study the mutation spectrum in CYP21A2 gene in patients with 21-hydroxylase deficiency (21-OHD), and to analyze the relationship between genotype and phenotype. Methods Eighteen patients with 21-OHD were identified by neonatal screening of 17α-OH progesterone (17α-OHP). The allele specific PCR-DNA sequencing com-bining with multiplex ligation-dependent probe amplification was applied to determine the genotype in the patients and their parents. Results Six mutations of CYP21A2 gene were identified. I2G (44.4%) and del (33.3%) were the most frequent mutations and also were the most common mutations in salt-wasting form. The detection rate of I172N mutation in simple virilizing form was 75%. Patients were classified into three groups according to the degree of 21-hydroxylase enzymatic compromise caused by the mutation. The serum 17α-OHP, ACTH and T levels which reflected the severity of disease were significantly different among three groups (P<0.05). Conclusions The genetic diagnosis of 21-OHD reveals the consistency between genotype and phenotype.
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Objective To evaluate the effects of delayed cord clamping (DCC) on preterm infants with gestational age <32 weeks.Methods Literatures from January 1,1990 to April 30,2013 in Cochrane library,PubMed,EMBASE,China Academic Journal Network Publishing Database,Wanfang Medical Database and VIP Database were searched.Randomized controlled trials (RCT) of DCC in preterm infants with gestational age <32 weeks were screened and evaluated.DCC was defined as cord clamping in 30-90 s after delivery,and early cord clamping (ECC) (<30 s) was as the control.Rev Man 5.1.0 was used for statistical analysis.Mean difference (MD) and 95%CI were used for continuous data while OR and 95%CI were for categorical data.Results Nine studies (11 articles) involving 373 infants were included.Compared with ECC,DCC improved hematocrit (MD=4.19,95%CI:2.97-5.40,Z=6.74,P<0.000 01),blood volume (MD=11.70,95%CI:6.02-17.38,Z=4.04,P<0.0001) and mean arterial pressure of preterm infants with gestational age <32 weeks (MD=3.11,95 %CI:1.30-4.92,Z=3.37,P=0.0008),decreased the usage of volume expansion for hypotension (OR=0.32,95%CI:0.11-0.98,Z=2.05,P=0.04) and the incidence of necrotizing enterocolitis (OR=0.48,95%CI:0.25-0.92,Z=2.22,P=0.03).Meanwhile,DCC had no influence on the peak bilirubin concentration,the incidence of sepsis,patent ductus arteriosus,retinopathy and intracranial hemorrhage,also no influence on neonatal mortality on dcscharge,mental developmental index and psychomotor developmental index at seven-month old.Conclusions DCC might be a safe procedure to improve prognosis of preterm infants less than 32 weeks' gestational age.However,due to small sample size and lack of data on follow up,it is necessary to launch clinical trials with higher quality and larger scale to further evaluate the effect and safety of DCC.
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<p><b>OBJECTIVE</b>To develop a method for elucidating genetic basis of 21-hydroxylase deficiency.</p><p><b>METHODS</b>Sanger sequencing of entire 21-hydroxylase coding gene CYP21A2 was carried out to detect point mutations, and multiplex ligation-dependent probe amplification (MLPA) and locus-specific PCR/enzyme restriction method were used to detect large deletions and conversion mutations.</p><p><b>RESULTS</b>Nine children were analyzed. Point mutations of the CYP21A2 gene have been identified as: IVS2 13A/C>G (9 alleles), p.Arg356Trp (1 allele), Cluster E6 (1 allele), p.Gln318X (1 allele), and Prom conv (1 allele). While the former 4 mutations are pathogenic, the role of Prom conv mutation in the pathogenesis was uncertain. Three cases had entire CYP21A2 gene deletions (3 alleles), three had CYP21A1P/CYP21A2 chimeric mutations (3 alleles). The genotypes of all patients were determined. And all of the mutations were inherited from parents.</p><p><b>CONCLUSION</b>A rational method for detecting point mutations and large deletions/conversions of CYP21A2 gene has been established.</p>
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Child , Child, Preschool , Female , Humans , Infant , Male , Adrenal Hyperplasia, Congenital , Diagnosis , Genetics , Alleles , Base Sequence , Gene Order , Genotype , Multiplex Polymerase Chain Reaction , Steroid 21-Hydroxylase , GeneticsABSTRACT
Objective To determine the effect of different types of Helicobacter pylori(H, pylori) on the gap junction intercellular communication (GJIC) in GES-1 cells, and investigate the types of H. pylorirelated to the dysfunction of GJIC. Methods Different types of H. pylori clinical strains were isolated and cultured, including the East Asian CagA-positive H. pylori( East Asian CagA +H. pylorl), Western CagA-positive H. pylori( Western CagA +H. pylori), and the CagA-negative H. pylori (CagA-H. pylori). We co-cultured these H. pyloristrains with GES-1 cells for 24 and 48h, respectively. The control group was cultured without any H. pylorifor 24 and 48 h. Change of the GJIC function in GES-1 cells was detected by the scrape-loading dye transfer (SLDT) technique. The cell proliferation of each group was examined by the methyl thiazolyl tetrazolium bromide (MTT) assay. Results The control group showed better GJIC function in the GES-1 cells, and the fluorescent dye migrated 4 - 5 rows to the adjacent cells at 24 and 48 h. Compared with the control group, the GJIC function of GES-1 cells in the CagA - H. pylori group decreased and the fluorescent dye migrated 3 rows to the adjacent cells. Compared with the control group and the CagA- H. pylori group, the GJIC function of GES-1 cells in the Western CagA + H. pylori group decreased and the fluorescent dye migrated 1 - 2 rows to the adjacent cells. The East Asian CagA * H. pylori group showed no GJIC function or weak GJIC function, and most of the fluorescent dye was confined to the area of scratched single row cells and only a few migrated 1 -2 rows to the adjacent cells. Difference in the cell proliferation between the CagA - H. pylorigroup and the control group was not significant. The cell proliferation of the Western CagA + H. pylori group and the East Asian CagA + H. pylori group at bacterium-to-cell ratio of 100:1 and 200:1 was higher than that of the control group. The cell proliferation of the East Asian CagA +H. pylori group at bacterium-to-cell ratio of 400:1 was significantly lower than that of the control group at 48 h. Conclusion H. pylorican inhibit the GJIC function in GES-1 cells, which may be associated with CagA +H. pylori, especially with East Asian CagA +H. pylori. The effect of H. pylori on the proliferation of GES-I cells is related to virulence factor CagA.
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Objective To explore the relationship between folic acid levels of cord blood and birth weight, hyaline membrane disease in newborns. Methods Eighty-seven newborns were divided into premature infant group(42 cases) and term infant group(45 cases),intrauterine growth retardation group( 28cases) and control group (59 cases), hyaline membrane disease of premature infant group ( 13 cases) and premature infant control group(15 cases) according to the gestational age, birth weight, clinical manifestation and chest X-ray, respectively. Folic acid levels of cord blood were measured. Results The folic acid level of cord blood in premature infant group was lower than that in term infant group [(10.87 ±4.31) nmol/L vs.( 13.56 ± 5.07) nmol/L,P <0.05 ]. The folic acid level of cord blood in intrauterine growth retardation group was lower than that in control group [(11.01±4.29)nmol/L vs.( 14.87 ± 5.14)nmol/L,P<0.05]. The folic acid level of cord blood in hyaline membrane disease of premature infant group was lower than that in premature infant control group [(9.15 ±4.02) nmol/L vs.(12.91±4.51) nmol/L,P<0.05]. The positively correlation was found between the folic acid level of cord blood and birth weight in newborns (r =0.1825).Conclusion The folic acid level of cord blood is correlated with the occurrence of premature infants,intrauterine growth retardation and hyaline membrane disease in newborns.
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Objective To evaluate the predictive accuracy of several risk-assessment strategies to predict the risk of significant neonatal hyperbilirubinemia, and to establish the best prediction model.Methods The transcutancous bilirubin (TcB) levels of 4907 term and near-team infants were measured.Trace blood bilirubin levels of the infants whose TcB levels ≥250 μmol/L were detected. Clinical data of newborns and their mothers were collected and were analyzed with Logistic regression model to investigate its correlation with signifrcant hyperbilirubinemia. Clinical high risk factors of significant neonatal hyperbilirubinemia were determined. Accuracy of three prediction methods for significant hyperbilirubinemia was compared by receiver operating characteristic (ROC) curve. The three methods included: whether predischarge bilirubin level (within 72 hours after birth) expressed in risk zone on an hour-specific bilirubin nomogram; clinical risk factors other than predischarge bilirubin level; and combination of the predischarge bilirubin risk zone and other clinical risk factors. Results Two hundred and eighty-six newborns (5.8%) were found with significant hyperbilirubinemia. The risk factors of significant neonatal hyperbilirubinemia were divided into three groups according to OR: (1) Major risk factors:predischarge (within 72 hours after birth) bilirubin level in the high risk-zone (OR=96. 39, 95% CI:53.32-174.27, P = 0. 000), large cephalohematoma (OR = 36.45, 95% CI: 10. 02-132.56,P=0. 0076), gestational age 35-36+6 weeks (OR= 30. 72, 95% CI 14.47-65.23, P=0. 0001) and exclusive breast feeding and weight loss was >9% of birth-weight (OR=22.44, 95% CI: 4.42-114. 03, P=0. 0016). (2) Minor risk factors: gestational age 37-37+6 weeks (OR=3.26, 95% CI:1.92-5. 55, P=0. 0232), predischarge bilirubin level in P76-P95(OR=13. 64, 95% CI: 8. 10-22.97,P=0. 0001) and bruising (OR = 2.32, 95% CI: 1.14-4.71, P = 0. 0497). (3)Protective factors (those factors associated with decreased risk of hyperbilirubinemia): predischarge bilirubin level in low-risk zone (≤P40) (OR=0. 00), gestational age ≥40 weeks (OR=0.21, 95% CI: 0.09-0.44,P=0. 0402) and mixed breeding (OR=0. 75, 95% CI: 0. 58-0.95, P=0.0059). The area under the ROC curve of predischarge bilirubin level was 0. 8687 and 0. 7375 for clinical risk factors other than predischarge bilirubin level. The area under the ROC curve of a combination of the predischarge bilirubin risk zone and additional clinical risk factors was 0. 9367. Conclusions The risk of significant neonatal hyperbilirubinemia could be simply and accurately predicted by infant's predischarge bilirubin level and the combination of predischarge bilirubin level, and clinical risk factors might improve the accuracy of prediction significantly.