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Objective To investigate the methylation alteration of genomic DNA (gDNA) and its significance in pedigree neural tube defects (NTDs).Methods Twelve subjects from 3 NTDs pedigrees were enrolled in this study.NTDs patients were served as the case group,and their family members with normal phenotype were served as the control group.Peripheral vein blood was extracted,then gDNA was extracted.The extracted gDNA was treated with sodium bisulfite propagated as DNA segments in the way of whole genome amplification,which was put in I11umina Infinium human methylation 450k bead chip to perform hybridization,elution,extension,and imaging.The chip was scanned by iScan.Genome Studio was used to read the outcome.Illumina methylation analyzer software was used to analyze the methylation data.Results Gene differential methylation analysis showed that differential methylation sites only accounted for 0.2％ of the detected CpG sites and there were 617 differential hypermethylation sites (P ＜ 0.05),and 63 of them represented significant difference(P ＜ 1 × 10-4),including zinc finger E-box binding homebox 2,5,10-methylenetetrahydrofolate dehydrogenase 1 etc;there were 104 differential hypomethylation sites (P ＜ 0.05),and 65 of them represented significant difference (P ＜ 0.01),including Homeobox B7 and runt-related transcription factor 3 etc.Clustering analysis indicated that the tendency of DNA hypermethylation was consistent with NTDs patients,but the tendency of DNA hypomethylation was consistent with the controls.Conclusion In NTDs pedigree,the abnormal DNA methylation alterations may be the risk factor for NTDs occurrence.
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Objective To investigate the correlation between neural tube defects (NTDs) and DACT1 gene, and provide the basic data for disease diagnosis and genetic counseling. Methods Blood samples were obtained from 163 NTDs patients and 480 unrelated healthy individuals. Mutation detection of DACT1 gene and DNA direct sequencing was carried out by PCR amplification. Bioinformatics analysis of these mutated loci was performed. Results Six mutations were found in NTDs patients, including 4 missense mutations (p.R45W, p.D142G, p.N356K and p.V702G). But these mutations were not found in 480 healthy individuals. Three mutated amino acid residues (p.45R, p.142D and p.356N) were highly conservative in evolution, and the mutated carriers were female patients, and suffered from anencephaly. Conclusion DACT1 gene mutation may be a risk factor of NTDs in Han population of northern China.
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Objective To investigate the methylation alteration of genomic DNA (gDNA) and its significance in pedigree neural tube defects (NTDs).Methods Twelve subjects from 3 NTDs pedigrees were enrolled in this study.NTDs patients were served as the case group,and their family members with normal phenotype were served as the control group.Peripheral vein blood was extracted,then gDNA was extracted.The extracted gDNA was treated with sodium bisulfite propagated as DNA segments in the way of whole genome amplification,which was put in I11umina Infinium human methylation 450k bead chip to perform hybridization,elution,extension,and imaging.The chip was scanned by iScan.Genome Studio was used to read the outcome.Illumina methylation analyzer software was used to analyze the methylation data.Results Gene differential methylation analysis showed that differential methylation sites only accounted for 0.2％ of the detected CpG sites and there were 617 differential hypermethylation sites (P ＜ 0.05),and 63 of them represented significant difference(P ＜ 1 × 10-4),including zinc finger E-box binding homebox 2,5,10-methylenetetrahydrofolate dehydrogenase 1 etc;there were 104 differential hypomethylation sites (P ＜ 0.05),and 65 of them represented significant difference (P ＜ 0.01),including Homeobox B7 and runt-related transcription factor 3 etc.Clustering analysis indicated that the tendency of DNA hypermethylation was consistent with NTDs patients,but the tendency of DNA hypomethylation was consistent with the controls.Conclusion In NTDs pedigree,the abnormal DNA methylation alterations may be the risk factor for NTDs occurrence.
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Objective To investigate the incidence, influencing factors and intervention of gestrinone-related abnormal uterine bleeding at different dosage of gestrinone in the clinical treatment. Methods This was a multicenter, randomized, control study of 195 Chinese women with endometriosis or adenomyosis from June 2011 to November 2013. The subjects were randomized into three groups with oral administration of gestrinone, 2.5 mg dose at one time;twice a week group:67 cases with oral administration twice a week last three months;double dose first month group:67 cases with oral administration triple times a week at first month, then twice a week for two months; three times a week group: 61 cases with oral administration three times a week last three months. The improvement of the abnormal uterine bleeding, the changes in estrogen, liver function and blood coagulation were evaluated. At the same time, B-ultrasound examination evaluation were performed. Results (1) Three months later, the incidence of abnormal uterine bleeding in twice a week group was 30%(20/67), in double dose first month group and three times a week group were 7%(5/67) and 16%(10/61) respectively, there were significant difference between three groups (P0.05). The body mass index significantly increased in three group (P0.05). As for blood coagulation, there were also no significant differences between the groups (P>0.05). Conclusions Double dose of gestrinone in the first month could significantly decrease the incidence of gestrinone-related abnormal uterine bleeding. It is a more optimied dosage of gestrinone and without severe side effects. Clinical trial registration Chinese Clinical Trial Registry, registration number: ChiCTR- TRC-12002327.
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Objective To investigate the efficacy and safety of hysteroscopic treatment for submucous uterine myoma.Methods From January 2000 to December 2004,a total of 168 women with submucous leiomyoma of the uterus were treated by hysteroscopy in our hospital.According to the type of the myomas,electro-resection was performed in different ways.For the patients with massive hemorrhage or older than 45 years,the endometrium was resected during the operation.Results The operation was completed in all the cases within 5 to 65 minutes mean,(27.6?12.1)minutes].The mean blood loss was(40.1?10.2)ml(8-50 ml).After the surgery,2 patients developed uterine perforation,3 had hyponatremia,and 5 showed transient fever.Among the patients,160(95.2%)were satisfied with the outcomes of the surgery.Conclusions Transcervical electro-resection by hysteroscopy is a minimally invasive,safe,and effective method for submucous uterine myoma.Preoperative preparation,strict indication criteria,and intraoperative monitor are three key points to avoid operation-related complications.
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0.05).Conclusion The chest low-dose computed radiography is valuable in the field of clinical diagnosis.
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Objective To analyze MRI value in diagnosing liver abscess.Methods MRI findings of liver abscess confirmed by clinical and pathology in 29 patients were analyzed retrospectively.Results 17 patients were single lesion and 12 patients were multiple lesions,totally 58 liver abscesses.MR imaging showed cluster sign in 15 cases,abnormal hepatic segmental or lamellar signal in 22 cases,lace pattern and crest septum in 17 cases,target sign or double ring sign in 8 cases,abscess with gas in 3 cases and tissue crumb sediment inside of abscess in 3 cases.On contrast-enhanced scan in 10 cases,7 cases showed marginal enhancement and 5 cases showed honeycomb or grid enhancement.Conclusion MRI can preferably show the characteristics of liver abscesses,it is of important value in diagnosis.