Chronic atrophic gastritis is a common and intractable disease of digestive in clinical. Chinese medicine is an important treatment method of this disease. It is said in Yellow Emperor that you must know the reason to seize the key. So explore the pathogenesis of the disease is the key to understanding the disease and the premise of Chinese medicine treatment of disease in traditional Chinese medicine. In recent years, many medical literature for chronic atrophic gastritis were reported. This article focuses on organizing the etiology and pathogenesis of the research literatures to comprehensively analyze the formation mechanism of the disease, and lay a solid foundation for further effective treatment search.

Objective To study the effects of mifepristone on fetus liver and kidney in the management of second-trimester pregnancy. Methods We selected 16 of the second-trimester pregnant (1 6 to 22 weeks) women who requested termination of pregnancy, and divided them in to two groups. In the mifepristone group (n=8), each woman received 150 mg mifepristone orally (separated to 25 mg, twice per day), following which prosta glandin (600 ?g) was orally administered on the fourth morning. The contro l group (n=8) was induced labor with water bag. After the fetal disengagemen t, immediate anatomization was performed on the fetus and 4 small pieces of live r and kidney tissues were obtained. Then the samples for electron microscope wer e prepared and observed. Results Compared with the control group, liver and kidney u ltrastructure in the mifepristone group showed extensive pathological changes. Conclusion Termination of pregnancy with mifepristone can d amage the liver and kidney of fetus, so it will be not suitable to continue preg nancy after unsuccessful induced labor by mifepristone in the second-trimester pregnancy. Mifepristone should be carefully used to end the mature pregnancy.

Objective:To summarize the diagnosis features of the prenatal genetic diagnosis of fetal renal cystic disease and to explore the clinical feasibility and significance of prenatal genetic diagnosis of congenital cystic nephrosis.Methods:A total of 25 fetuses with congenital renal cystic disease were examined via invasive prenatal diagnosis in Henan Provincial People's Hospital from June 2017 to September 2019. Amniotic fluid samples were extracted by amniocentesis. Chromosomal microarray analysis (CMA) were performed in 17 cases. In addition to CMA, the other 8 cases were analyzed by G-band karyotype. Whole exome sequencing (WES) was performed in 6 cases which got normal results by CMA and karyotype, and highly suspected as hereditary disease.Results:Of the 25 fetuses assessed, 4 cases (16.0%) pathogenic copy number variation (pCNV) were found, including 2 cases of 17q12 deletion, 1 case of 10p15.1p14 deletion and 1 case of 4q21.28q22.1 deletion(including PKD2 gene). There were 8 cases without chromosome abnormality by karyotype analysis. Six clinical WES analysis found NPHS1 gene c.1440+1 G>A and c.925G > T mutations were related to Finnish type congenital nephrotic syndrome in 1 case, PKD1 gene c.6878C>T mutation was related to autosomal dominant polycystic kidney disease (ADPKD) in 1 case, and there was no definitive mutation in 4 cases. Conclusions:CMA and next generation sequencing are powerful tools for accurate diagnosis, treatment and genetic counseling of fetal congenital renal cystic diseases. For congenital cystic nephropathy, genetic detection is helpful to clarify the etiology, and provide more exactly informations for prognosis evaluation, treatment and family genetic counseling.

Objective To explore the management model of chronic disease like myocardial infarction through the effect of collaborative work pattern of doctors and nurses on acute myocardial infarction patients with percutaneous coronary intervention(PCI) after 1 year follow up.Methods A total of 852 patients from October 1,2011 to September 30,2013 with collaborative work pattern of doctors and nurses were as collaborative work pattern group,and 734 patients without collaborative work pattern of doctors and nurses at the same time were as control group.The patients were followed up for 1 year.The differences of treatment compliance,risk factors control,and the incidence of cardiovasc~ar events were compared between collaborative work pattern group and control group.Results The improvement of treatment compliance in collaborative work pattern group was better than that in control group.The improvement rate of improve lifestyle initiatively,completely medication,check regularly were 83.3％(710/852),97.9％(834/852),75.4％(642/852) in collaborative work pattern group and 63.5％(466/734),93.7％(688/734),59.0％(433/734) in control group,x2=81.02,17.57,26.22,P＜0.01.The control rate of risk factors including hypertension,diabetic mellitus,high blood low density lipoprotein cholesterol were 78.5％ (252/321),68.4％ (214/313),84.8％ (491/579) in collaborative work pattern group and 55.8％ (168/301),58.1％ (168/289),79.9％ (381/477) in control group,x2=36.47,6.79,4.41,P＜0.01 or ＜0.05.The incidence of treatment compliance and total cardiovascular events in collaborative work pattern group were better than those in control group.There were significant differences in the above indices,P＜0.05.Conclusions Collaborative work pattern of doctors and nurses is an effective method and supplement for patients with myocardial infarction after PCI to improve treatment compliance and control risk factors.The prognosis of patients can be improved and this pattern is an effective exploration of chronic disease management.

Objective To assess the frequency and significance of maternal cell contamination (MCC)in the invasive prenatal diagnosis,and to analysis the MCC effect on prenatal diagnosis results.Methods Totally 519 amniotic fluid samples from second trimester pregnancy,57 chorionic villus samples from first trimester pregnancy,and 576 blood samples from corresponded pregnant women were collected and genotyped by Promega PowerPlex 16 system.MCC was determined according to the genotyping results.Karyotypic and molecular diagnosis results were contrasted between MCC and non-MCC specimen of the same fetal.Results MCC presented in 3.1％(16/519)uncultured amniotic fluid,1.3％(7/519)cultured amniotic fluid and 5％(3/57)villi specimens.In the study of fetal karyotype,MCC had no significant effect on normal female fetus;but for male fetus and abnormal female fetus,there were risk of erroneous results of mosaics.As to molecular diagnosis,MCC resulted in more complex effects for the different diagnostic methods.And 10％ MCC had led to misdiagnosis.Conclusions For the prenatal cytogenetic tests,MCC should be excluded when there were mosaicism karyotype results or suspicious MCC of chorionic villi samples.The effects of MCC had more seriously impact on prenatal molecular testing,which suggesting the recommend regular identity test for MCC should bc carried out.

Objective:To investigate the role of macrophage migration inhibitory factor (MIF) in severe acute pancreatitis (SAP) associated lung injury in mice.Methods:Totally 32 mice were randomly divided into 4 groups ( n=8/per group): wild type control group (WT+CON group), wild type SAP group (WT+SAP group), MIF gene knockout control group (KO+CON group), and MIF gene knockout SAP group (KO+SAP group). SAP model was established by intraperitoneal injection of L-arginine (4 mg/g). The expression of serum amylase, IL-6, TNF-α and MIF were detected by ELISA. The pathological changes of pancreatic and lung tissues were observed by HE staining. The expression of IL-6 and TNF-α in lung tissue was detected by immunohistochemistry. The expression of NF-κB in lung tissue was detected by Western blot. For measurement data, t test was used for comparison between two groups, and one-way analysis of variance was used for comparison between multiple groups. Results:Compared with the WT+CON group, pathological score of pancreatic and lung injury, serum amylase, TNF-α and IL-6 expression in serum and lung tissues were significantly increased in the WT+SAP group ( P<0.05), while the above indexes were significantly decreased in the KO+SAP group ( P<0.05). In addition, the expression of NF-κB protein in KO+SAP group was significantly lower than that in the WT+SAP group ( P<0.05). Conclusions:MIF gene knockout can alleviate severe acute pancreatitis associated acute lung injury in mice, and its mechanism may be related to NF-κB.

Objective To investigate the value of array-based comparative genomic hybridization (array-CGH) technique for the detection of chromosomal analysis of miscarried embryo, and to provide genetic counseling for couples with spontaneous abortion. Methods Totally 382 patients who underwent miscarriage were enrolled in this study. All aborted tissues were analyzed with conventional cytogenetic karyotyping and array-CGH, respectively. Results Through genetic analysis, all of the 382 specimens were successfully analyzed by array-CGH (100.0%, 382/382), and the detection rate of chromosomal aberrations was 46.6% (178/382). However, conventional karyotype analysis was successfully performed in 281 cases (73.6%, 281/382), and 113 (40.2%, 113/281) were found with chromosomal aberrations. Of these 178 samples identified by array-CGH, 163 samples (91.6%, 163/178) were aneuploidy, 15 samples (8.4%, 15/178) were segmental deletion and (or) duplication cases. Four of 10 cases with small segmental deletion and duplication were validated to be transferred from their fathers or mathers who were carriers of submicroscopic reciprocal translocation. Of these 113 abnormal karyotypes founded by conventional karyotyping, 108 cases (95.6%, 108/113) were aneuploidy and 5 cases (4.4%, 5/113) had chromosome structural aberrations. Most array-CGH results were consistent with conventional karyotyping but with 3 cases of discrepancy, which included 2 cases of triploids, 1 case of low-level mosaicism that undetcted by array-CGH. Conclusions Compared with conventional karyotyping, there is an increased detection rate of chromosomal abnormalities when array-CGH is used to analyse the products of conception, primarilly because of its sucess with nonviable tissues. It could be a first-line method to determine the reason of miscarrage with higher accuracy and sensitivity.

Objective To investigate the clinical value of non-invasive prenatal diagnosis using cell free fetal DNA(cff-DNA)in maternal blood.Methods From Sep.2010 to Mar.2012,103 pregnant women who came to Henan Province People's Hospital in the first trimestcr for prenatal diagnosis of scx-linked inherited diseases were included in the first trimester group.From Oct.2010 to Jan.2012,205 pregnant women undergoing amniotic fluid sampling for fetal karyotype analysis in the same hospital were included in the second trimester group.Real time quantitative PCR and fluorescent PCR were used to detect sex determining region of Y chromosome gene(SRY)and amelogenin gene(AML)on cff-DNA of the first trimester group.Moreover,12 Y chromosome STR loci analysis were performed for 33 male fetuses and their fathers.Massively Parallel Signature Sequencing(MPSS)was used for aneuploidy analysis in cff-DNA of the second trimester group.Results(1)In the first trimester group,there were 53 SRY positive and 50 SRY negative.Compared with the results of cff-DNA of chorionic villus samples,there was one SRY false positive and one false negative results,with a sensitivity of 98％ and specificity of 98％.For the AML gene test,there were two PCR products of male fetuses:102 bp fragment originating from X chromosome(AML X)and 108 bp fragment from Y chromosome(AML Y);but only AML X was found in products from female fetuses.In the first trimester group,102 bp and 108 bp fragments were detected in 52 cases,and only 102 bp fragment was found in the other cases.Compared to AML results from chorionic villus samples,there were 2 false negative results,with a sensitivity of 96％ and specificity of 100％.(2)For cff-DNA with plasma SRY over 30 copy/ml,Y STR loci were analyzed on cff-DNA of 33 fetuses and their fathers.The Y STR loci less then 200 bp were successfully detected,while Y STR loci with PCR products between 200-300 bp showed low signal or could not be amplicated;and no PCR products more than 300 bp were detected from cff-DNA.Comparing the detected Y STR loci of cff-DNA to the fathers,32 fetuses were concordant with their fathers'.Exogenous contamination was found in the rest one sample.(3)In the second trimester group,6 fetuses with abnormal karyotype(two trisomy 21,three trisomy 18 and one 45,XO)were detected by cff-DNA and were proved by karyotype analysis.Moreover,the MPSS results of cff-DNA revealed one 45,Y and one trisomy 16 whose karyotype analysis showed normal results.And in one case,MPSS suggested less chrX or chrY,that was proved to be 47,XYY by karyotype analysis.Conclusions(1)Cff-DNA in maternal blood can be used to determine fetal gender in early prenancy with considerable sensitivity and specificity.But the trace cff-DNA and the high maternal DNA background might have impact on the result.(2)Analysis of cff-DNA in maternal blood of the second trimester women showed that MPSS could be used for prenatal screening of trisomy 21 and trisomy 18.However,further research should be done for other chromosomes aneuploidy detection.

Objective To investigate the association between multi-drug resistant 1 (MDR1) gene C3435T and T129C polymorphism with refractory epilepsy in children. Methods A total of 260 children including 60 refractory epilepsy, 100 drug-responsive epilepsy, and 100 healthy children were enrolled. The genotypes for MDR1 polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism analysis.The distribution of genotypes and allele frequencies of the three groups were compared. Results The distribution of TT/TC/CC genotypes and T/C allele frequencies of C3435T showed no signiifcant difference between drug-resistant patients and drug-responsive patients or normal control group (P>0.05). Drug-resistant patients were more likely to have the TC genotype and the C allele at T129C when compared with the drug-responsive patients and the normal control group (P<0.05). Conclusions T129C polymorphism of the MDR1 gene was associated with refractory epilepsy in children.

OBJECTIVE: To explore the genetic basis for a couple who had developed polyhydramnios during three pregnancies and given birth to two liveborns featuring limb contracture, dyspnea and neonatal death. METHODS: Whole-exome sequencing (WES) was carried out on fetal tissue and peripheral blood samples from the couple. Suspected variants were verified by Sanger sequencing. RESULTS: The fetus was found to harbor homozygous nonsense c.3718C>T (p.Arg1240Ter) variants of the CNTNAP1 gene, which were respectively inherited from its mother and father. The variant was unreported previously. According to the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PM2+PP4). CONCLUSION The novel homozygous nonsense variants of the CNTNAP1 gene probably underlay the lethal congenital contracture syndrome type 7 (LCCS7) in this pedigree. Above finding has enabled genetic counseling and prenatal diagnosis for the family.
Cell Adhesion Molecules, Neuronal ; China ; Contracture/genetics* ; Female ; Humans ; Infant, Newborn ; Mutation ; Pedigree ; Pregnancy ; Whole Exome Sequencing