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1.
Article in Chinese | WPRIM | ID: wpr-828316

ABSTRACT

OBJECTIVE@#To explore the genetic etiology of three pedigrees with a gestational history of fetal renal anomalies.@*METHODS@#Peripheral venous blood or skin samples were derived from the probands of the three pedigrees. Copy number variation sequencing (CNV-seq) was applied to detect alterations of genome CNVs.@*RESULTS@#The patient from pedigree 1 and the fetuses from pedigrees 2 and 3 all carried a heterozygous 17q12 deletion, with the size ranging from 1.4 Mb to 1.48 Mb encompassing the HNF1B gene.@*CONCLUSION@#The diagnosis of 17q12 microdeletion may be difficult during fetal period for its variable phenotypes. Alterations of chromosomal copy numbers need to be excluded in such patients.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 17 , Genetics , DNA Copy Number Variations , Fetus , Genetic Testing , Hepatocyte Nuclear Factor 1-beta , Genetics , Humans , Pedigree , Phenotype
2.
Article in Chinese | WPRIM | ID: wpr-826533

ABSTRACT

OBJECTIVE@#To carry out genetic analysis for a family with a fetus manifesting bilateral polycystic renal dysplasia and oligohydramnios at 16 gestational week and a previous history for fetal renal anomaly.@*METHODS@#Ultrasound scan was carried out to detect the morphological changes. Following genetic counselling, the parents had decided to terminate the pregnancy. Fetal kidneys were subjected to histological examination. Target capture and next generation sequencing (NGS) was applied to the abortus to detect potential variants. The results were verified by Sanger sequencing.@*RESULTS@#Histological examination of fetal kidneys revealed cystic changes without cortex, medulla or normal renal structure. NGS has identified a heterozygous c.100+1G>A variant and deletion of exon 3 of the INVS gene, which were respectively inherited from the mother and father.@*CONCLUSION@#Through NGS and Sanger sequencing, the fetus was diagnosed with type II nephronophthisis (NPHP2). Above result can provide guidance for further pregnancy and enforce understanding of clinical features and genetic etiologies for NPHP.


Subject(s)
Female , Fetus , Genetic Testing , Heterozygote , Humans , Mutation , Polycystic Kidney, Autosomal Dominant , Diagnostic Imaging , Genetics , Pregnancy , Sequence Deletion , Genetics , Transcription Factors , Genetics , Ultrasonography
3.
Article in Chinese | WPRIM | ID: wpr-781328

ABSTRACT

OBJECTIVE@#The phenotype and genetics of three patients with autosomal recessive polycystic kidney disease (ARPKD) at childhood, teenage and advanced age were analyzed.@*METHODS@#Next generation sequencing (NGS) was applied to all the probands. PCR and Sanger sequencing were used to verify the suspicious gene variants screened by NGS in the probands and their family members, and one of the family got prenatal diagnosis.@*RESULTS@#Through NGS, PCR and Sanger sequencing, the 5-yr proband in pedigree 1 was shown to carry compound heterozygous variants of c.5935G>A(p.G1979R) and c.5428G>T(p.E1810X) of PKHD1, originated from his parents; In pedigree 2, the 17-ys proband was detected with c.5512T>C(p.Y1838H) and c.5935G>A(p.G1979R) variants of PKHD1 orginated from her parents, and her mother also got prenatal diagnosis during the second trimester; In pedigree 3, the 70-ys female proband was found with variants c.11314C>T (p.R3772X) and c.3860T>G (p.V1287G) of PKHD1.@*CONCLUSION@#The three pedigrees were diagnosed as ARPKD caused by PKHD1 variants. Five types of variants were detected, c.5935G>A and c.11314C>T were the known pathogenic variants, while c.5512T>C, c.5428G>T and c.3860T>G were not reported previously. Considering the complexity of the genetics and phenotypes of the cystic renal diseases, genetic diagnosis is crucial to give accurate etiological diagnosis, which may benefit the clinic management.


Subject(s)
Adolescent , Aged , Child, Preschool , Female , Humans , Male , Mutation , Phenotype , Polycystic Kidney, Autosomal Recessive , Genetics , Pregnancy , Receptors, Cell Surface , Genetics
4.
Article in Chinese | WPRIM | ID: wpr-776805

ABSTRACT

OBJECTIVE@#To explore the genetic etiology for a pedigree affected with progressive familial intrahepatic cholestasis (PFIC).@*METHODS@#Target sequence capture and next generation sequencing (NGS) were applied for the proband. PCR and Sanger sequencing were used to verify the suspected mutation in his sister with similar symptoms and his parents.@*RESULTS@#The proband and his sister manifested after birth with symptoms including jaundice, pruritus and developmental retardation. NGS has identified compound heterozygous mutations of ABCB11 gene, which encodes bile salt export pump protein (BSEP), namely c.2494C>T (p.Arg832Cys) and c.3223C>T (p.Gln1075*), in the proband, which were inherited from his father and mother respectively. His sister carried the same compound mutations.@*CONCLUSION@#Based on the phenotype and genetic testing, the patients were diagnosed as PFIC2 caused by mutation of the ABCB11 gene. The c.3223C>T is a novel nonsense mutation which may cause premature termination of translation. Above results have enriched the spectrum of ABCB11 mutations and provided new evidence for the molecular basis of PFIC, which also facilitated genetic counseling for this pedigree.


Subject(s)
ATP Binding Cassette Transporter, Subfamily B, Member 11 , Genetics , ATP-Binding Cassette Transporters , Cholestasis, Intrahepatic , Genetics , Female , Genetic Testing , Humans , Male , Mutation , Pedigree , Phenotype
5.
Article in Chinese | WPRIM | ID: wpr-776750

ABSTRACT

OBJECTIVE@#To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy (DCM) of the fetus.@*METHODS@#DNA was extracted from fetal tissue as well as peripheral blood samples from the couple. Single nucleotide polymorphism array (SNP array) and next-generation sequencing (NGS) were carried out to screen potential mutation. Suspected mutation was validated with PCR and Sanger sequencing.@*RESULTS@#The manifestation of fetal echocardiography was consistent with DCM. No obvious abnormality was found by SNP array analysis. A hemizygous c.481G>A (p.G161R) mutation of the TAZ gene was detected in the male fetus by NGS and confirmed by Sanger sequencing. The mutation was inherited from his mother.@*CONCLUSION@#Barth syndrome due to the c.481G>A mutation of the TAZ gene probably underlies the recurrent hydrops fetalis and fetal DCM in this family.


Subject(s)
Barth Syndrome , Genetics , Cardiomyopathy, Dilated , Genetics , Echocardiography , Female , Genetic Testing , High-Throughput Nucleotide Sequencing , Humans , Hydrops Fetalis , Genetics , Male , Mutation , Pregnancy , Transcription Factors , Genetics
6.
Article in Chinese | WPRIM | ID: wpr-775791

ABSTRACT

OBJECTIVE@#To explore the clinical features and genetic diagnosis of two cases with rare diseases and X chromosome abnormalities.@*METHODS@#Multiple ligation-dependent probe amplification (MLPA) and karyotype analysis were carried out on an 8-year-old girl who was diagnosed with Duchenne muscular dystrophy. Karyotype analysis and PCR assay for SRY and AZF genes were carried out for a-2-month-old male infant with short penis.@*RESULTS@#The girl, who featured short stature and cubitus valgus, was diagnosed as Turner syndrome with a karyotype of 46,X,i(Xq). The male infant was detected with a karyotype of 45,X, with presence of SRY gene but absence of AZF gene.@*CONCLUSION@#Both cases may be associated with abnormalities of X chromosome. Genetic testing can facilitate early diagnosis and clinical intervention for such patients.


Subject(s)
Chromosomes, Human, X , Humans , Infant , Karyotyping , Male , Muscular Dystrophy, Duchenne , Genetics , Rare Diseases , Turner Syndrome , Genetics
7.
Article in Chinese | WPRIM | ID: wpr-772021

ABSTRACT

OBJECTIVE@#To identify genetic mutations among patients with hearing loss but without common GJB2, SLC26A4, 12 SrRNA mutations.@*METHODS@#Thirty-three patients were subjected to next-generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Four patients were found to harbor previously known pathogenic variations, and four were found to carry suspicious pathogenic variations, which yielded a detection rate of 24.2%.@*CONCLUSION@#NGS can improve the detection rate for mutations underlying congenital hearing loss and improve the efficiency and accuracy of the diagnosis.


Subject(s)
Connexins , Deafness , Hearing Loss, Sensorineural , High-Throughput Nucleotide Sequencing , Humans , Membrane Transport Proteins , Mutation , Sulfate Transporters
8.
Article in Chinese | WPRIM | ID: wpr-799965

ABSTRACT

Objective@#The phenotype and genetics of three patients with autosomal recessive polycystic kidney disease (ARPKD) at childhood, teenage and advanced age were analyzed.@*Methods@#Next generation sequencing (NGS) was applied to all the probands. PCR and Sanger sequencing were used to verify the suspicious gene variants screened by NGS in the probands and their family members, and one of the family got prenatal diagnosis.@*Results@#Through NGS, PCR and Sanger sequencing, the 5-yr proband in pedigree 1 was shown to carry compound heterozygous variants of c. 5935G>A(p.G1979R) and c. 5428G>T(p.E1810X) of PKHD1, originated from his parents; In pedigree 2, the 17-ys proband was detected with c. 5512T>C(p.Y1838H) and c. 5935G>A(p.G1979R) variants of PKHD1 orginated from her parents, and her mother also got prenatal diagnosis during the second trimester; In pedigree 3, the 70-ys female proband was found with variants c. 11314C>T (p.R3772X) and c. 3860T>G (p.V1287G) of PKHD1.@*Conclusion@#The three pedigrees were diagnosed as ARPKD caused by PKHD1 variants. Five types of variants were detected, c. 5935G>A and c. 11314C>T were the known pathogenic variants, while c. 5512T>C, c. 5428G>T and c. 3860T>G were not reported previously. Considering the complexity of the genetics and phenotypes of the cystic renal diseases, genetic diagnosis is crucial to give accurate etiological diagnosis, which may benefit the clinic management.

9.
Article in Chinese | WPRIM | ID: wpr-796474

ABSTRACT

Objective@#To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy (DCM) of the fetus.@*Methods@#DNA was extracted from fetal tissue as well as peripheral blood samples from the couple. Single nucleotide polymorphism array (SNP array) and next-generation sequencing (NGS) were carried out to screen potential mutation. Suspected mutation was validated with PCR and Sanger sequencing.@*Results@#The manifestation of fetal echocardiography was consistent with DCM. No obvious abnormality was found by SNP array analysis. A hemizygous c. 481G>A (p.G161R) mutation of the TAZ gene was detected in the male fetus by NGS and confirmed by Sanger sequencing. The mutation was inherited from his mother.@*Conclusion@#Barth syndrome due to the c. 481G>A mutation of the TAZ gene probably underlies the recurrent hydrops fetalis and fetal DCM in this family.

10.
Article in Chinese | WPRIM | ID: wpr-775818

ABSTRACT

OBJECTIVE@#To detect potential mutation in a pedigree affected with autosomal recessive non-syndromic deafness.@*METHODS@#Mutation analysis was carried out by next generation sequencing, and suspected mutations were verified by Sanger sequencing.@*RESULTS@#A heterozygous c.235delC mutation of the GJB2 gene, together with compound heterozygous mutations of the OTOF gene [c.1194T>A (p.D398E) and c.2180A>G (p.N727S)] were detected in the proband. The sister of the proband (also had hearing loss) has carried a heterozygous c.235delC mutation in the GJB2 gene, in addition with a heterozygous c.2180A>G(p.N727S) mutation of the OTOF gene. By Sanger sequencing, a heterozygous IVS1+2T>A mutation was further detected in the non-coding region of the GJB2 gene in both sisters.@*CONCLUSION@#The compound heterozygous c.235delC and IVS1+2T>A mutations of the GJB2 gene probably account for the hearing loss in the two sisters, among which IVS1+2T>A is considered as a novel pathogenic mutation of the GJB2 gene.


Subject(s)
Connexins , Genetics , DNA Mutational Analysis , Female , Hearing Loss, Sensorineural , Genetics , High-Throughput Nucleotide Sequencing , Humans , Membrane Proteins , Genetics , Mutation , Pedigree
11.
Pakistan Journal of Pharmaceutical Sciences. 2017; 30 (1[suppl]): 329-334
in English | IMEMR | ID: emr-186536

ABSTRACT

This paper aims to discuss the clinical significance of laparotomy nerve sparing radical hysterectomy [NSRH] on rectal function of early cervical cancer patients, compared with conventional radical hysterectomy. 30 cases of early cervical carcinoma patients who had received surgery in the First Affiliated Hospital of Zhengzhou University from June 2010 to June 2014 were selected as subjects. Patients were divided into two groups, with 15 in each group, in which Group A had received NSRH, B received CRH, and all them were in stage IB-IIA1. In the surgery, 2 cases of patients in NSRH group failed in nerve sparing operation, and were grouped into CRH group. The postoperative condition of two groups were observed, recorded and compared as well, especially the comparison between the postoperative recovery condition of rectal function of two groups. The comparison were conducted between two groups on the operation time, bleeding volume, quantity of cleaned pelvic lymph node, resection length of parametrium, resection length of vagina, etc. There was no statistical significance [P>0.05]. The postoperative urinary catheter indwelling time in NSRH group was shorter than CRH group, with statistical significance [P<0.05]. The postoperative maximum urine flow, maximum cystometric capacity, maximum detrusor pressure and urinary complications in NSRH group were significantly better than the postoperative condition in CRH group, with statistical significance [P<0.05]. NSRH surgery was safe and reliable, which not only had obvious advantage in improving postoperative rectal function and bladder function, but also had a significantly effect on improving postoperative life quality as well. The results proved that patients had low disease morbidity and with great clinical significance

12.
Pakistan Journal of Pharmaceutical Sciences. 2017; 30 (4[Supp.]): 1505-1508
in English | IMEMR | ID: emr-188873

ABSTRACT

This paper aims to investigate the clinical curative effect and adverse reactions of cryotherapy combined with interferon in the treatment of chronic cervicitis complicated with HPV infection. 100 cases diagnosed with chronic cervicitis complicated with HPV infection from August 2014 to August 2015 in our hospital were selected and randomly divided into observation group [50 cases] and control group [50 cases]. The preoperative and postoperative HPV-DNA changes were observed, and the vaginal discharge, time of decrustation and hemostasis, HPV negative conversion ratio and clinical efficacy were compared, to record the adverse reactions during treatment. After treatment, the level of RLU/CO value of the observation group was significantly lower than that of the control group [P<0.05]; the vaginal discharge and time of decrustation and hemostasis of the observation group were shorter than that of the control group [P<0.05]; 3 months after treatment, the HPV negative conversion ratio in the observation group was significantly higher than that in the control group; the total efficiency of the observation group was higher than that of the control group, with statistical significance [P<0.05]. There were no serious adverse reactions in the two groups during the treatment. The efficiency of cervicitis complicated with HPV infection in the treatment of cryotherapy combined with interferon was more significantly. It can effectively reduce the load of HPV, promote the recovery of patients with pathological changes. Therefore, it is worth promoting

13.
Article in Chinese | WPRIM | ID: wpr-617958

ABSTRACT

Objective To investigate the value of prenatal diagnosis in identifying the etiology and predicting the prognosis of fetal pleural effusion (FPE).Methods Forty-two cases of FPE were recruited in this study from January 2012 to September 2016.Ultrasound scan and genetic tests were performed on all fetuses.Seven fetuses with severe FPE were given pleurocentesis.Pregnancy outcomes of all the fetuses were followed up.Results FPE was commonly accompanied with other abnormalities,such as ascites,hydrops,hydramnion,hygroma colli,abnormal posturing,joint contractures,arrhythmia and micromandible.Chromosomal abnormality was detected in 11 fetuses (26.2%),of which ten were further confirmed by karyotype analysis,including six with 45,X,three trisomy 21 and one trisomy 18,and one was detected with a 9.83 Mb uniparental disomy (UPD) located at 12q24.21q24.31 by gene chip.One fetus was diagnosed with--SEA/--SEA thalassemia.All of the 12 families decided to terminate the pregnancies after genetic counseling.Among the other 30 fetuses,seven with severe FPE and normal karyotype underwent pleurocentesis.Five of the seven cases were with favorable outcomes,one with progressive hydrops was aborted and one neonate with severe hydrops died after birth.Spontaneous regression of FPE with good outcome was found in two cases.Parents of the other 21 fetuses chose to terminate the pregnancies.Conclusions Prenatal diagnosis is important to identify the etiology and predict the outcome of FPE.Chromosomal abnormality is a relatively common cause of FPE,and 45,X and trisomy 21 are the most common abnormalities.Intrauterine intervention is beneficial for FPE without chromosomal or other definite genetic abnormalities.Genetic test may be of great value for pregnant counseling.

14.
Article in Chinese | WPRIM | ID: wpr-512656

ABSTRACT

Objective: To assess therapeutic effect of alprostadil on improving myocardial microcirculatory disturbance and hemorheological disorder in patients with coronary heart disease (CHD).Methods: A total of 164 CHD patients treated in our hospital were selected.According to random number table method, they were randomly and equally divided into routine treatment group and alprostadil group (received alprostadil injection based on routine treatment group), both groups were treated for two weeks.Serum levels of nitric oxide (NO), vascular endothelial growth factor (VEGF), thromboxan β2 (TXβ2) and hemorheological indexes were measured and compared between two groups after treatment;TIMI grade and TIMI myocardial perfusion grading (TMPG) of CAG were compared between two groups after treatment.Results: Compared with routine treatment group after treatment, there were significant rise in serum levels of NO[(64.9±10.3) mmol/L vs.(98.8±13.2) mmol/L]and VEGF[(1.62±0.53) mg/L vs.(3.31±0.68) mg/L], and significant reduction in serum TXβ2 level[(180.4±22.8) pg/ml vs.(78.9±9.6) pg/ml], P<0.05 or<0.01;significant reductions in whole blood high shear viscosity[(5.84±0.72) mPa·s vs.(4.25±0.31) mPa·s], whole blood low shear viscosity[(8.42±0.93) mPa s vs.(5.31±0.68) mPa s], plasma viscosity[(2.73±0.34) mPa s vs.(1.61±0.29) mPa s], fibrinogen level[(4.09±0.55) g/L vs.(3.13±0.55) g/L], erythrocyte aggregation index[(3.85±0.47) vs.(2.24±0.31)]and maximum platelet aggregation rate[(67.4±5.3)% vs.(48.0±3.6)%]in alprostadil group, P<0.05 all.Among those patients undergoing second CAG, compared with routine treatment group, there were significant reductions in percentages of TIMI and TMPG grade II and grade III, and significant rise in percentages of TIMI and TMPG grade 0 and grade I in alprostadil group, P<0.05 or <0.01.Conclusion: Alprostadil can significantly improve myocardial microcirculatory disturbance and hemorheological disorder in patients with coronary heart disease, which is worth extending.

15.
Article in Chinese | WPRIM | ID: wpr-488112

ABSTRACT

Objective To investigate the effect and mechanism of metformin on endometrial carcinoma subline of progestin-resistance and find whether metformin could regulate progestin-resistance in endometrial carcinoma. Methods Ishikawa endometrial carcinoma cells were cultured for a long period in the presence of the synthetic medroxyprogesterone 17-acetate (MPA) to generate a subline refractory to the growth-suppressive effects of MPA,named Ishikawa/MPA cells. The effect of MPA (1, 5, 10, 20, 40 and 60 μmol/L) or metformin (1, 10, 20, 40, 60, 70 and 80 mmol/L) on proliferation of the Ishikawa/MPA and parental Ishikawa cells was detected by cell counting kit-8 (CCK-8) method. Western blot was used to detect the effect of metformin and(or)MPA on the expression of PR-B in the Ishikawa/MPA and Ishikawa cells. Results The Ishikawa/MPA showed that growth stimulation rather than inhibition in the Ishikawa cells after low MPA concentration treatment. The doubling time of Ishikawa/MPA cell lines were (43±4) hours and that of Ishikawa cell line were (47 ± 3) hours. No changes in doubling time were observed (t=0.349,P=0.572). Low concentration (1 and 5μmol/L) of MPA could promote the growth of Ishikawa/MPA cells (by 3% and 13%). High concentration (10, 20, 40 and 60 μmol/L) of MPA could inhibited the growth of Ishikawa/MPA cells (by 4%, 3%, 9%and 40%) and the growth of Ishikawa cells (by 41%, 55%, 65%and 66%). At the same concentration, the difference of inhibition rates between the two cell lines were statistically significant (P<0.01). Metformin (1, 10, 20, 40, 60, 70 and 80 mmol/L) could inhibite the growth of Ishikawa/MPA (by-10%, 20%, 56%, 89%, 97%, 98%and 99%) greater than those in parental Ishikawa cells (by-6%, 19%, 37%, 54%, 70%, 72%and 83%), and the inhibitory effect was dose-dependent manner. Western blot assay showed that for Ishikawa cells, the protein expression levels of PR-B in metformin group and MPA+metformin group were respectively (53.5±4.0)%and (37.7±5.2)%, which were higher than that in the control group [(23.4 ± 3.0)%], and there were significant the differences (P<0.01). For Ishikawa/MPA cells, the protein expression levels of PR-B in metformin group and MPA+metformin group were respectively (38.6 ± 1.7)%,(36.3 ± 2.5)%,which were higher than those in the control group [(6.4 ± 1.6)%], and there were also significant differences (P<0.01). Conclusion Metformin may regulate the progestin-resistance in endometrial carcinoma by increasing the expression of PR-B.

16.
Article in Chinese | WPRIM | ID: wpr-478859

ABSTRACT

Objective To investigate the effects of metformin on cell proliferation in differentiation degree of endometrial carcinoma cells and related mechanisms. Methods The endometrial cancer cell lines Ishikawa and AN3CA were used. Cell proliferation was assessed after exposure to metformin with or without epithelial growth factor receptor (EGFR) inhibitor AG1478 by cell counting kit-8 (CCK-8) method. EGFR mRNA was determined by reverse transcription (RT)-PCR. The expression of phosphorylation EGFR (p-EGFR) and total EGFR (t-EGFR) and phosphorylation extracellular signal-regulated kinase 1/2 (p-ERK1/2) and total ERK1/2 (t-ERK1/2) were examined by western blot. Results (1)CCK-8 experiment showed that metformin could inhibit the proliferation of endometrial cancer cells in a time-dependent manner and a dose-dependent manner (P0.05). But the expression levels of p-EGFR and p-ERK1/2 protein were significantly lower between two groups (P<0.01), which showed a time-dependent manner(P<0.01). Conclusion Metformin could inhibit the proliferation of endometrial cancer cells, the inhibition is associated with the differentiation degree of cancer cells. Metformin could enhance the EGFR signaling pathway inhibitor AG1478 inhibition of endometrial cancer cells, which may inhibit EGFR expression of phosphorylated proteins to inhibit the phosphorylation of ERK1/2 proteins and then inhibit proliferation of endometrial cancer cells.

17.
Article in Chinese | WPRIM | ID: wpr-478439

ABSTRACT

Objective To assess the efficacy and safety of mifepristone combined with oral or vaginal misoprostol for termination of pregnancy between 8 and 16 weeks of gestation. Methods This was a randomized, multi-center, open clinical trial. A total of 625 women at 8-16 weeks of gestation were randomized to receive 200 mg oral mifepristone followed by either oral misoprostol 400 μg every 3 hours or vaginal misoprostol 400μg every 6 hours for a maximum of 4 doses 36-48 hours later. There were 417 women in oral group with 198 at 8-9 weeks and 219 at 10-16 weeks, while 208 women in vaginal group with 99 at 8-9 weeks and 109 at 10-16 weeks. The outcome measures were the success abortion rate, induction to abortion interval, the amount of bleeding, reoccurrence of menstruation and adverse events. Results Abortion rate was significantly higher in vaginal group [98.1% (202/206)] than that in oral group [94.0%(390/415), P=0.023]; concerning termination of pregnancy at 8-9 weeks and 10-16 weeks respectively, there were no significant differences between oral and vaginal groups (P=0.156, P=0.073). The induction to abortion interval was no significant difference in oral and vaginal group in different gestational weeks ( P=0.238, P=0.273). The average induction to abortion interval was (4.1 ± 6.6) hours and (6.0 ± 4.5) hours respectively in terminating 8-9 weeks and 10-16 weeks of gestation. Concerning the amount of bleeding within 2 hours of placenta expulsion, there was significant difference between oral group [(63±46) ml] and vaginal group [(55 ± 45) ml] in terminating 8-9 weeks of gestation (P=0.047), while there was no significant difference between groups in terminating 10-16 weeks of gestation [oral group (76 ± 52) ml versus vaginal group (76 ± 61) ml, P=0.507]. The reoccurrence of menstruation was about 37 days in both oral and vaginal groups. Two cases of incomplete abortion were serious adverse events (SAE) relating to treatment. The common adverse events (AE) of nausea and vomiting were significantly higher in oral group [57.2% (239/417), 36.3% (151/417)] than those in vaginal group [45.4% (94/208), 26.1% (54/208); P=0.005, 0.011]. Conclusion Oral or vaginal misoprostol combined with mifepristone, is effective and safe for termination of pregnancy between 8 and 16 weeks of gestation.

18.
Article in Chinese | WPRIM | ID: wpr-467061

ABSTRACT

Objective To explore the expression and function of myosin light streptokinase (MLCK) in small intestine mucosa of acute necrotizing pancreatitis (ANP) rats.Methods Fifty-six male SD rats were randomly assigned to control group and ANP group.A rat model of ANP was reproduced by retrograde injection of 4% sodium taurocholate into the biliopancreatic duct,while the control group underwent a sham operation.The rats were sacrificed at 6th,12th,24th,48th hour after ANP induction.Serum amylase、TNF α,IL 1β,diamine oxidase (DAO) were measured.The pathological scores in the pancreas and small intestine were observed.The ultrastructure and tight junction (TJ) changes in the small intestine mucosa were observed with an electron microscope.The localization and expression of MLCK in small intestine mucosa was determined by immunohistochemistry method.Results Compared to the control group,the serum amylase,TNF-α,IL-1 β,DAO level,in the ANP group were all significantly increased;[(4 978 ± 1 574) U/L vs (1 176 ± 124))U/L,(47.88 ± 15.85) μg/L vs (17.24 ± 1.99) μg/L,(132.48 ± 68.54) μg/L vs (23.51 ± 6.44) μg/L,(95.96 ± 30.84)μg/L vs (38.06 ± 17.73)U/L at 12 h],and the pathology scores of pancreas and small intestine were both significantly elevated [12 h:(12.2 ± 1.80) vs (4.68 ± 0.35),(2.58 ± 0.52) vs (0.58 ±0.26)] (P <0.05);the MLCK protein expression in small intestine mucosa was significantly increased in ANP group (12 h:0.1863 ± 0.0230 vs 0.1636 ± 0.0049),and the difference was statistically significant (P <0.05).The small intestine ultrastructure was seriously damaged and TJ was widened significantly in ANP Group.Conclusions The increased serum TNF alpha and IL-1β concentration and DAO activity and up-regulated MLCK protein expression in small intestine mucosa may damage the integrity of tight junction of intestinal epithelial cell and cause intestine mucosa barrier dysfunction.

19.
Article in Chinese | WPRIM | ID: wpr-254511

ABSTRACT

<p><b>OBJECTIVE</b>To analyze potential mutation in keration 9 (KRT9) gene in a large Chinese family with epidermolytic palmoplantar keratoderma (EPPK) and to perform prenatal diagnosis on the fetus at 10th gestational week.</p><p><b>METHODS</b>Peripheral venous blood samples were obtained from 5 affected and 8 unaffected individuals of the family. Fifty unrelated healthy individuals were also recruited as controls. PCR was used to amplify exons 1 and 6 of KRT9 gene, and the products were sequenced directly. After the mutation was confirmed, prenatal diagnosis was performed on the fetus during the first trimester of pregnancy.</p><p><b>RESULTS</b>A heterozygous missense mutation c.482A to G in the KRT9 gene, which has led to substitution of Asparaginate by Serine at codon 161 (p.N161S), was detected in all patients but not in other individuals of the family and the 50 healthy controls. The fetus was found to have carried the p.N161S mutation too. Following selected abortion, analysis of fetal tissue was consistent with prenatal diagnosis.</p><p><b>CONCLUSION</b>The missense mutation c.482A to G (p.N161S), which has been shown previously to cause EPPK, is found in the KRT9 gene of patients in this family. Gene mutation analysis for prenatal diagnosis is efficient to facilitate detection of affected fetus in time.</p>


Subject(s)
Adult , Asian Continental Ancestry Group , Genetics , Base Sequence , DNA Mutational Analysis , Methods , Humans , Keratin-9 , Genetics , Keratoderma, Palmoplantar, Epidermolytic , Diagnosis , Genetics , Molecular Sequence Data , Mutation, Missense , Pedigree , Prenatal Diagnosis , Methods
20.
Article in Chinese | WPRIM | ID: wpr-453508

ABSTRACT

Objective To analyze the mutations of IDS gene in a mucopolysaccharidosis type Ⅱ (MPS Ⅱ) family and to make prenatal diagnosis on the high-risk fetus which has been pregnant for eleven weeks.Methods IDS gene was analyzed by bidirectional DNA sequencing in 2 patients and their mother,and 5 unaffected individuals.Prenatal diagnosis for the high-risk fetus was performed by chorionic villus sampling after the genotypes was identified.Results The mutation c.344delA (N115fsX15) was detected in the two patients,and the mother of patients carried the heterozygous c.344delA (N115fsX15) mutation.None of the mutant was detected in the 5 unaffected subjects.The fetus carried c.344delA (N115fsX15) heterozygous mutation and was a carrier.Conclusion The deletion mutation c.344delA (N115fsX15) is causative to the pedigree of MPS Ⅱ,and prenatal diagnosis is the efficient method to avoid defect birth.

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