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1.
Article in Chinese | WPRIM | ID: wpr-928439

ABSTRACT

OBJECTIVE@#To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening.@*METHODS@#7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up.@*RESULTS@#Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations.@*CONCLUSION@#Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.


Subject(s)
Amniotic Fluid , Aneuploidy , Chromosome Aberrations , DNA Copy Number Variations , Female , Genomics , Humans , Pregnancy , Pregnancy Trimester, Second , Pregnant Women , Prenatal Diagnosis/methods , Technology
2.
Article in Chinese | WPRIM | ID: wpr-912709

ABSTRACT

Objective:To provide information for further development of chronic disease management, by studying the allocation of resources required to provide services in a county in Shanxi province as required by to the pathway of China-Gates Rural Primary Health Care Service project.Methods:A questionnaire survey was made to evaluate the deployment of manpower, equipment, and drugs required by levels of county, township and village medical institutions in the health management services of hypertension and diabetes in the rural areas of Yangqu county, Shanxi province from July to August 2019.Results:A total of one county hospital, 10 township health centers and 101 village clinics participated in the investigation. In terms of service personnel participating in the project, 9 township-level medical institutions were manned with personnel who could provide diagnosis, intervention planning, and follow-up visits, and only one of them had annual evaluators; village-level medical institutions basically didn′t have diagnosis, intervention planning, and annual evaluation staff. In terms of technical equipments, there was a general lack of diabetes assessment equipment at county, township and village level medical institutions. The mandatory equipments for diabetes assessment was equipped for only 80.0%, 79.0%, and 37.8% of the three levels of institutions, respectively. Village clinics lack hypertension assessment equipment and had no diabetes diagnosis equipment at all.Conclusions:The chronic disease management personnel, equipment, and drug supply in the rural areas of a county in Shanxi province are unbalanced among counties, townships, and villages. The quality of chronic disease management services should be improved through effective and rational use of resources.

3.
Article in Chinese | WPRIM | ID: wpr-734947

ABSTRACT

We reported the prenatal molecular diagnosis and pregnant outcome of a fetus with increased nuchal translucency.The ultrasound findings of the gravida at 12+5 gestational weeks indicated that the fetal nuchal translucency thickness was 4.5 mm,and non-invasive prenatal testing suggested as low risk.Amniocentesis was performed at 18 gestational weeks.Fetal chromosomal karyotype was normal but chromosome microarray comparative genomic hybridization analysis identified a 1.878 Mb deletion on chromosome 2p15-16.1.No copy number variation was found in the parents.The microdeletion was also verified by multiplex ligation-dependent probe amplification.Literature reported that chromosome 2p 15-16.1 microdeletion syndrome was characterized by mental retardation,language developmental disorder,microcephaly and so on.This case we reported here was a de novo 2p 15-16.1 microdeletion which contained the critical region and genes of 2p 15-16.1 microdeletion syndrome and was inferred to be a pathogenetic mutation.The gravida chose to terminate the pregnancy after genetic consultation.

4.
Article in Chinese | WPRIM | ID: wpr-775767

ABSTRACT

OBJECTIVE@#To carry out genetic testing for a family affected with distal hereditary motor neuronopathy V (dHMN V).@*METHODS@#Potential mutations of the GARS and BSCL2 genes were analyzed with PCR and Sanger sequencing. Suspected mutation was verified among unaffected members of the family and 100 healthy controls. Prenatal diagnosis was provided based on the above results.@*RESULTS@#Sequencing analysis has identified a heterozygous c.269C>T (p.S90L) mutation in the BSCL2 gene, which resulted in replacement of Serine (TCG) to Leucine (TTG). The same mutation was found in all other 3 patients from the pedigree but not among unaffected members or the 100 healthy controls. By prenatal diagnosis, the fetus did not carry the above mutation.@*CONCLUSION@#Pathogenic mutation of BSCL2 gene probably underlies the dHMN V in this pedigree, which enabled prenatal diagnosis for the proband.


Subject(s)
Female , GTP-Binding Protein gamma Subunits , Humans , Muscular Atrophy, Spinal , Mutation , Pedigree , Pregnancy
5.
Article in Chinese | WPRIM | ID: wpr-688222

ABSTRACT

<p><b>OBJECTIVE</b>To perform prenatal diagnosis for a fetus with endocardial cushion defect and explore its mechanism.</p><p><b>METHODS</b>The karotypes of the fetus and its parents were analyzed by routine G-banding. Their genomic DNA was also analyzed by array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>The fetus and its mother were found to have a karyotype of 46, XX, inv(8)(p21q24.1), while no karyotypic abnormality was detected for the father. aCGH has detected a 15.14 Mb deletion at 8p23.3-p22 and a 6.87 Mb duplication at 8q24.23-q24.3 in the fetus.</p><p><b>CONCLUSION</b>The fetus was diagnosed with Rec8 syndrome. Its abnormal chromosomes have derived from the inv(8) carried by its mother. GATA4 and SOX7 may be the key genes for the endocardial cushion defect found in the fetus.</p>

6.
Article in Chinese | WPRIM | ID: wpr-688161

ABSTRACT

<p><b>OBJECTIVE</b>To provide prenatal diagnosis for a pregnant woman with a history of Williams-Beuren syndrome pregnancy.</p><p><b>METHODS</b>The karyotypes of the fetus and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>No karyotypic abnormality was detected for the fetus and his parents. aCGH has identified a de novo 5.09 Mb deletion at 2p13.3-p12 in the fetus.</p><p><b>CONCLUSION</b>The 2p13.3-p12 microdeletion carried by the fetus was de novo. As it has involved dosage-sensitive genes SPR and DCTN1, the deletion is probably pathogenic.</p>

7.
Article in Chinese | WPRIM | ID: wpr-712192

ABSTRACT

Objective To conduct genetic diagnosis and prenatal diagnosis for a haemophilia B family with multi-nucleotides deletion mutation of F9 gene.Methods This is a genetic analysis.Whole exon mutation of the F9 gene was analyzed by PCR and Sanger sequencing for seven patients with the family of hemophilia B who consulted doctors in Henan Province People′s Hospital in April 2013.Suspected mutation was verified among non-hemophilia B members of the family and 100 healthy controls to rule out genetic polymorphism of the F9 gene.The above-mentioned detection results of hemophilia B gene , the pathogenic mutation of F9 gene in the family was clarified , and prenatal diagnosis was conducted for the female carriers in the family.It is recommended that the fetal gene detection should be conducted in amniotic fluid in the mid-term pregnancy of the female carriers of hemophilia , and then they can be informed of the non-hemophilia B fetus by the results of the gene detection .Results PCR and sequencing analysis has identified a deletion mutation of F9 gene c.185_188delGAGA[p.Glu62Asnfs?41]in seven hemophilia B patients.This mutation induced F9 gene frame shift mutation which led to early termination of F9 gene translation because there was a termination codon TAA at the 41th codon after the mutation site.The same mutation was not found among the non-hemophilia B members of the family and the 100 healthy controls. There were eight female carriers and nine female non-carriers in the family.Upon prenatal diagnosis , the Y chromosome sex-determining gene ( SRY ) in amniotic fluid was positive and no deletion mutation was observed in the F9 gene c.185_188.Conclusion The pathogenic mutation of F9 gene in the family was identified , which was helpful for prenatal diagnosis in female carriers .

8.
Article in Chinese | WPRIM | ID: wpr-693526

ABSTRACT

Beta 2-microglobulin (β2-MG) has low expression levels in tissues and cells of normal organisms,but its expression levels is increasing in tumor.The main function of β2-MG is to regulate signal transduction in tumor cells and promote tumor cell growth and angiogenesis.High level expression of β2-MG is associated with the occurrence,progression,metastasis and prognosis of human tumors and can serve as an independent indicator of tumor prognosis.It has been confirmed in a variety of tumor cells that agent targeting β2-MG is expected to become a new generation of targeted drugs.

9.
Article in Chinese | WPRIM | ID: wpr-344188

ABSTRACT

<p><b>OBJECTIVE</b>To determine the origin and pathogenicity of a chromosomal aberration for a fetus and analyze the possible mechanism.</p><p><b>METHODS</b>The karotypes of the fetus and its parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH).</p><p><b>RESULTS</b>No karyotypic abnormality was detected at cytogenetic level for the fetus and its parents. aCGH has identified a de novo 2.04 Mb deletion at 6q27 in the fetus. The region involves candidate genes responsible for structural brain abnormalities. The area flanking the chromosomal breakpoint contains a 2410 bp sequence rich in palindromes which can form stable secondary structures.</p><p><b>CONCLUSION</b>The de novo 6q27 deletion is pathogenic. The 6q27 deletion may be responsible for the structural brain abnormalities in the fetus. The palindrome sequence flanking the chromosomal breakpoint may be involved the formation of the 6q27 deletion.</p>


Subject(s)
Adult , Chromosome Deletion , Chromosomes, Human, Pair 6 , Comparative Genomic Hybridization , Female , Genetic Testing , Humans , Pregnancy , Prenatal Diagnosis
10.
Article in Chinese | WPRIM | ID: wpr-335099

ABSTRACT

<p><b>OBJECTIVE</b>To conduct genetic diagnosis for a family affected with hamophilia A.</p><p><b>METHODS</b>Potential mutations of the F8 gene were analyzed with PCR and Sanger sequencing. Carriers of the mutation were identified through linkage analysis using short tandem repeat (STR) markers. Suspected mutations were verified among 100 healthy controls to rule out genetic polymorphism. Prenatal diagnosis was provided based on the above results.</p><p><b>RESULTS</b>Sequencing analysis has identified two mutations, c.1 A>T and c.4 C>T, which have replaced the start codon (ATG) with leucine (TTG) and glutamine (GAA) with the stop codon (TAA), respectively. The same mutations were not found among the 100 healthy controls. The patient's mother and sister were heterozygous for the same mutations. Upon prenatal diagnosis, the fetus was determined as a male and did not harbor the above mutations. Linkage analysis also confirmed that the fetus has inherited the non-risk X chromosome from his maternal grandfather.</p><p><b>CONCLUSION</b>Detection of pathogenic mutations can enable prenatal diagnosis for the disease.</p>


Subject(s)
Adult , Factor VIII , Genetics , Female , Genetic Linkage , Genetics , Hemophilia A , Genetics , Humans , Male , Mutation , Genetics , Prenatal Diagnosis , Methods , Young Adult
11.
Chinese Circulation Journal ; (12): 217-221, 2017.
Article in Chinese | WPRIM | ID: wpr-509870

ABSTRACT

Objective: To evaluate the impact of primary percutaneous coronary intervention (PPCI) with pre-operative intra-aortic balloon pump (P-IABP) implantation on short and long term prognosis in octogenarian patients of ST-segment elevation myocardial infarction (STEMI). Methods: We performed aretrospectively study in octogenarian STEMI patients treated in our hospital from 2004-01 to 2014-08. The patients were divided into 2 groups: P-IABP group,n=24 and PPCI group,n=73 including 12 patients who received rescue IABP (R-IABP) because of intra- or post-procedural hemodynamic collapse as a subgroup.Major end point events included 1 month and 1-, 2-year post-operative death; major adverse cardiac and cerebral events (MACCE) included 1 month post-operative cardiac shock, new or worsening heart failure (HF), re-infarction and stroke. The predictors causing different endpoint events were identiifed by Cox proportional hazard model analysis. Results: 1 month and 1-, 2-year post-operative death were similar between 2 groups (8.3% vs 16.4%), (16.7% vs 24.7%), (25.0% vs 30.1%) respectively; MACCE incidence was also similar (20.8% vs 30.1%), allP>0.05. Death rates between P-IABP group and R-IABP subgroup were similar at different time points,P>0.05; while MACCE incidence in P-IABP group was lower than R-IABP subgroup (20.8% vs 66.7%),P=0.005 and it was mainly presented by reduced HF occurrence (8.3% vs 41.7%),P=0.003. Coxproportional hazard model analysis indicated that post-operative TIMI lfow<3 grade was the independent predictor for 1 month death (HR=4.79, 95% CI1.59-14.39,P=0.005), complicating diseases as chronic obstructive pulmonary disease, kidney impairment and anemiawere themain independent predictors for 2-year death (HR=3.0, 95% CI 1.37-6.56,P=0.006). Conclusion: PPCI and P-IABP had no signiifcant differencefor short and long term survivalin octogenarianSTEMIpatients. Compared with R-IABP, P-IABP patients had the lower MACC Eincidence at 1 month post-operation .

12.
Chinese Circulation Journal ; (12): 10-14, 2016.
Article in Chinese | WPRIM | ID: wpr-486945

ABSTRACT

Objective: To make long-term comparison of drug-eluting stent (DES) implantation betweenleft internal mammary artery (LIMA) graft and native vessel in patients with previous coronary artery bypass grafting (CABG). Methods: A total of 151 patients with anterior wall ischemia because of previous CABG induced LIMA graft lesion who received percutaneous coronary intervention (PCI) in our hospital from 2004-07 to 2012-12 were retrospectively studied. The clinical, coronaryangiography (CAG) and follow-up conditions for DES implantation were analyzed;according to the target vessel, the patients were divided into 2 groups:LIMA group, n=40 and Native vessel (NV) group, which meant all segments of left main to left anterior descending arteries, n=111. Primary end points included target lesion revascularization (TLR), target lesion failure (TLF) as cardiac death, target vessel related non-fatal MI with the composition of TLR and major adverse cardiovascular events (MACE). Results:The median follow-up time was 30 (10-100) months. The rates of TLR and TLF were similar between 2 groups:(15.0%vs 11.7%, log-rank P=0.65) and (17.5%vs 13.5%, log-rank P=0.63). MACE occurrence in LIMA group was higher than NV group (35.0%vs 18.0%, log-rank P=0.043) which was mainly presented by new non-target vessel revascularization as right coronary artery, left circumlfex and saphenous vein graft(17.5%vs 4.5%, log-rank P=0.014). Cox multivariate analysis indicated that target lesion stent length was the only independent predictor for both TLR (HR=1.03, 95%CI1.00-1.06, P=0.01) and TLF (HR=1.03, 95%CI1.00-1.05, P=0.02);whereas, LIMA-PCI was the only independent predictor for MACE occurrence (HR=3.09, 95%CI1.28-7.60, P=0.012). Conclusion: The chances of TLR and TLF were similar inpatients with previous CABG by either LIMA or NV, while MACE occurrence was higher in LIMA patients which should be further investigated.

13.
Article in Chinese | WPRIM | ID: wpr-239529

ABSTRACT

<p><b>OBJECTIVE</b>To conduct genetic diagnosis for a family in which no exonic deletions and duplications of the dystrophin gene were detected.</p><p><b>METHODS</b>Potential exonic deletions and duplications of the dystrophin gene were initially analyzed with using multiplex ligation-dependent probe amplification (MLPA). Subsequently, all of the 79 exons of the dystrophin gene of the proband and a pregnant woman from the family were analyzed with PCR amplification and DNA sequencing. Following identification of the causative mutation, prenatal diagnosis was provided.</p><p><b>RESULTS</b>MLPA analysis had detected no exonic deletions and duplications of the dystrophin gene. Sequence analysis has identified a C>T mutation on the 22nd nucleotide position of the 70th exon of the dystrophin gene (c.10108 C>T), which has replaced the codon CGA to a stop codon (TGA). The patient's mother and sister were both heterozygous for the same mutation. Upon prenatal diagnosis, the fetus was found to be positive for the Y chromosome sex-determining gene (SRY) and has carried above mutation. The result of short tandem repeat linkage analysis also confirmed that the fetus has inherited the mutant X chromosome.</p><p><b>CONCLUSION</b>The causative mutation of the dystrophin gene has been discovered in an affected family, which has enabled prenatal diagnosis of the disease.</p>


Subject(s)
Child, Preschool , Dystrophin , Genetics , Exons , Gene Deletion , Gene Duplication , Humans , Male , Microsatellite Repeats , Multiplex Polymerase Chain Reaction , Mutation
14.
Military Medical Sciences ; (12): 891-894, 2015.
Article in Chinese | WPRIM | ID: wpr-483885

ABSTRACT

Objective No related training experience, no systematic training before military training, psychological negative emotions(tension and anxiety) and low frequency of physical activities(less than three times a week) have been considered as crucial risk factors of high intensive military training induced acute kidney injury.This paper aims to discuss whether these risk factors can be used for screening high risk groups.Methods Soldiers were divided into 5 groups based on the questionnaire survey:Group1 had no risk factor, Group2 had 1 risk factor, Group3 had 2 risk factors, Group4 had 3 risk factors, and Group5 had 4 risk factors.Urine samples were collected after 6 h and 24 h of 5 km armed military training.Kidney injury indicators were compared such as urine protein, urine occult blood test, urine micro-albumin ( mALB) , urine N-acetyl-β-D-glucosaminidase( NAG) among different groups.Results As the risk factors increased, the incidence of positive urinary protein 6 h after training increased (x2 =101.8,P<0.001),and the levels of mALB and NAG of urine samples were elevated as well.The analysis among moderate and high risk groups(Group3-5) showed that the levels of mALB and NAG of urine samples 24 h after training increased with the number of risk factors.The mean value of these injury indicators reached to the maximum in Group 5.Conclusion No related training experience, no systematic training before military training, psychological negative emotions( tension and anxiety) and low frequency of physical activi-ties(less than three times a week) are independent risk factors of high intensive military training induced acute kidney inju-ry,which can be used for screening high risk individuals during training.

15.
Article in Chinese | WPRIM | ID: wpr-430032

ABSTRACT

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.

16.
Article in Chinese | WPRIM | ID: wpr-532891

ABSTRACT

Modern wars result in a significant increase in the incidence of burn injury,and a lot of soldiers with extensive deep burn will occur intensively in a short time.At present,allogeneic skin graft is a principal method to treat extensive burn,but allogeneic skin source is in extremely short supply.Therefore,this review concentrates on the source of allogeneic skin,the necessity to establish allogeneic skin bank for preparedness against war,the present existing problems and main solutions to related problems.

17.
Article in Chinese | WPRIM | ID: wpr-527144

ABSTRACT

Objective To study the effect of ribozyme mediated inhibition on telomerase activity and cell(proliferation) of GBC-SD cells.Methods According to the hTR template two wings region sequence,the hammerhead ribozyme gene sequence was synthesized in vitro.Then,it was engineered into the eukaryon(expression) vector pTriEx-4.Lipofectamine was used to transfect the carcinoma of gallbladder.The inhibition of telomerase activity and cell proliferation in GBC-SD cell was observed,and compared with control group.(Results) Compared to control group,ribozyme can significantly inhibit telomerase activity and cell proliferation of GBC-SD cell.After ribozyme action,the cell ratio of G_0/G_1 markedly increased,and the cell ratio of S phase markedly decreased.Cellular cleavage and proliferation was markedly inhibited.The apoptosis rate was 17.10% and 31.01% on day10 and day13 after ribozyme action.Conclusions Ribozyme can inhibit(telomerase) activity of GBC-SD cells effectively and induce cell apoptosis.

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