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Objective@#Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with its genetic evidence widely explored. This study explored the potential the parent-of-origin (PoO) effect of WNT pathway on the risks of NSCL/P, using a case-parent trio design.@*Methods@#Data on the single nucleotide polymorphism (SNP) of WNT genes were selected from a genome-wide association study (GWAS). A total of 806 Chinese non-syndromic cleft lip patients, with or without cleft palate (NSCL/P) case-parent trios, were gathered from an international consortium. PoO effect of WNT pathway genes and its haplotypes were explored by log-linear models. Additional Wald tests were performed to assess: a) the heterogeneity of PoO effect between different maternal exposures, b) the interaction between PoO effect, c) maternal exposure to environmental tobacco smoke (ETS), and d) multivitamin supplementation during pregnancy. The threshold for statistical significance was adjusted as 3.47×10-4, according to Bonferroni correction.@*Results@#After quality control, a total of 144 SNPs within seven genes were included for analyses, among which 8 SNPs were of potential PoO effect (P<0.05). However, none of them achieved the statistical significance after Bonferroni correction. The haplotype rs4074668-rs12725747 (T-A) on WNT9A showed significant PoO effect, based on the haplotype test for PoO (P=2.74×10-4). In addition, no statistically significant interaction was found in further exploration of this haplotype under environmental exposures as ETS or multivitamin supplementation.@*Conclusions@#Genes in the WNT pathway may influence the NSCL/P risks through the potential PoO effect. Particularly, the haplotype rs4074668-rs12725747 (T-A) on WNT9A presented significant PoO effect on NSCL/P, statistically. From this current study, findings on WNT pathway related risks among the NSCL/P, need to be further validated by independent samples in the future.
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Non-syndromic oral clefts (NSOC) are among the most common birth defects.The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China,which is higher than those in other major ethnic groups.The etiology of NSOC is complex and heterogeneous,which involves both genetic and environmental risk factors.Although genome-wide association studies have identified a number of risk loci,these loci can only account for a small proportion of the heritability of NSOC.The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC.This paper summaries the progress in the next-generation sequencing research of NSOC.
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Non-syndromic oral clefts (NSOC) are among the most common birth defects.The prevalence of NSOC is 1.13-1.30 per 1 000 live births in China,which is higher than those in other major ethnic groups.The etiology of NSOC is complex and heterogeneous,which involves both genetic and environmental risk factors.Although genome-wide association studies have identified a number of risk loci,these loci can only account for a small proportion of the heritability of NSOC.The next-generation sequencing research provides new ideas for further exploring the genetic risk factors of NSOC.This paper summaries the progress in the next-generation sequencing research of NSOC.
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Objective:To explore the association and gene-environment interaction between single nu-cleotide polymorphisms (SNPs)involved in cell-cell adhesion and non-syndromic cleft lip with or without cleft palate (NSCL/P)among Chinese population.Methods:A total of 806 NSCL/P trios were drawn by an international consortium,which conducted a genome-wide association study (GWAS)using a case-parent trio design to investigate genes affecting risks to NSCL/P.The transmission disequilibrium test (TDT)was used to explore the association between cell-cell adhesion genes,including CDH1,CT-NNB1,PVRL1,PVRL2,PVRL3,ACTN1,VCL,LEF1,and NSCL/P.Conditional Logistic regression models were used to estimate effects on risk of exposed and unexposed children.Four common maternal exposures including maternal smoking,environmental tobacco smoke,alcohol consumption and multivita-min supplementation during pregnancy were included in this study.Results:A total of 226 SNP markers were tested after quality control in this study.Although 23 SNPs in three genes (CTNNB1,CDH1, ACTN1)showed nominal significant association with NSCL/P in the TDT (P 0.000 2).Tests for gene-environment interaction yielded significant results be-tween rs7431 27 in ACTN1 and environmental tobacco smoke (P =0.000 1 )with an estimated OR (case |G and E)=2.00(95%CI:1 .23 -3.26)and OR (case |G no E)=0.59 (95%CI:0.38 -0.90).Among the lower P value results in gene-environment tests,there were no significant results be-tween rs1 475034,rs370535,rs227341 9 in ACTN1,rs1 06871 in CTNNB1 and environmental tobacco smoke interaction.There were also no significant results between rs7634000,rs2971 366,rs2634553, rs1 489032,rs762481 2 in PVRL3 and multivitamin supplementation during pregnancy in gene-environ-ment tests(P >0.000 2).Conclusion:There is no association between cell-cell adhesion genes,inclu-ding CDH1,CTNNB1,PVRL1,PVRL2,PVRL3,ACTN1,VCL,LEF1,and NSCL/P when the genes are considered alone.But our results suggest that SNPs in ACTN1 may influence the risk to NSCL/P through gene-environment interaction.
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Chronic obstructive pulmonary disease (COPD) refers to a common complex disease characterized by progressive and incomplete reversible airflow limitation.COPD is one of the leading causes on morbidity and mortality in China.Genetic risk factors play important roles on the occurrence of COPD.However,the genetic risk factors of COPD remain unknown,to some extent.The aim of this review is to provide a comprehensive overview on literature concerning the most promising findings related to genetic risk factors of COPD.
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Chronic obstructive pulmonary disease (COPD) refers to a common complex disease characterized by progressive and incomplete reversible airflow limitation.COPD is one of the leading causes on morbidity and mortality in China.Genetic risk factors play important roles on the occurrence of COPD.However,the genetic risk factors of COPD remain unknown,to some extent.The aim of this review is to provide a comprehensive overview on literature concerning the most promising findings related to genetic risk factors of COPD.
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The current methods of preparation of pesticide residue analysis in traditional Chinese medicine were summarized in this paper. And the new preparation techniques used in recent years were reviewed, which included solid-phase micro-extraction (SPME), QuECHERS, matrix solid-phase dispersion (MSPD). In addition, the determination method of the pesticide residue methods in the traditional Chinese medicine were also included in the paper, and analysed the problem in the determination based on the characteristics of TCMs.
Subject(s)
Gas Chromatography-Mass Spectrometry , Methods , Medicine, Chinese Traditional , Pesticide Residues , Solid Phase ExtractionABSTRACT
BACKGROUND: Previous research has indicated that graphite carbon nanoparticles have a strong adsorbability. While, when the concentration is effectively controlled, graphite carbon nanoparticles also have well compatibility and sensitizing effect. OBJECTIVE: To observe the morphology of graphite carbon nanoparticles, and to investigate the effects of graphite carbon nanoparticles on cell proliferation and ultramicrostructure.METHODS: Graphite carbon nanoparticles (0.5 g) were put in 100 mL triple distilled water to obtain graphite carbon nanoparticle mother liquid after oscillation and microfiltration. HepG2 cells, L02 cells, HI7702 cells, and 3T3 cells in the logarithmic phase were adjusted to the concentration of 5×10~7/L and inoculated in 6-well culture plate with 0.5 mL per well. Thereafter, the cells were cultured with RPMI-1640 culture media (1.5 mL) containing fetal bovine serum, penicillin, and streptomycin. The original culture solution was removed after 24 hours. The 1-5 wells were considered as the experimental group, and 25, 10, 7.5, 5, 0.25 mg/Lgraphite carbon nanoparticles (2.0 mL) were respectively added into each well; while, the sixth well was considered as the blank control group without graphite carbon nanoparticles. The cells in the blank control group were cultured for 24 hours. Particle diameter was measured using atomic force microscopy; morphology was observed using electron microscope; effect of different concentrations of graphite carbon nanoparticles on cell number was detected using hemacytometry under optic microscope; the effect of 7.5 mg/L graphite carbon nanoparticles on ultramicrostructure was observed under transmission electron microscope. RESULTS AND CONCLUSION: Graphite carbon nanoparticles were around and 20 nm diameter. Compared with the blank control group, cell numbers except HepG2 cells were increased, especially the effect of 7.5 mg/L graphite carbon nanoparticles was greatest (P < 0.05). Transmission electron microscope indicated that graphite carbon nanoparticles were distributed into cells, including cytoplasm, nucleus, and mitochondrion; while, subcellular structure damage and cell apoptosis and necrosis were absent. Graphite carbon nanoparticles have no side effects on in vitro cultured cells and can promote cell proliferation, showing a dose-dependence correlation, especially the concentration of 7.5 mg/L.
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<p><b>OBJECTIVE</b>To develop a GC method to determine the content of caryophyllene in Eupatorium fortune.</p><p><b>METHOD</b>The samples were determined on a DB-1701 (0.32 mm x 30 m, 0.25 microm) quartz capillary column. And the sample was extracted with ethanol by the ultrasonic assisted extraction.</p><p><b>RESULT</b>The calibration curve of caryophyllene is liner over the range of 0.002-2.0 g x L (-1) (R2 = 1). The recovery was from 96.76% to 104.15%.</p><p><b>CONCLUSION</b>The method is accurate, simple with a good reproducibility. It can be used to control the quality of E. fortune.</p>
Subject(s)
Chromatography, Gas , Methods , Drugs, Chinese Herbal , Eupatorium , Chemistry , SesquiterpenesABSTRACT
Objective: To establish a method for determination of methone and pulegone in Herba Schizonepetae. Methods: The contents of menthone and pulegone were determined by GC (equipped with FID) with HP-5 fused capillary column (5% phenyl methyl siloxane 30m?0.32mm?0.25?m) after the samples were extracted by the solvents. Results: The linear ranges were 0.002-5.0g/L (r=0.9999) for menthone and 0.002-5.0g/L (r=0.9996) for pulegone, the recoveries of menthone and pulygone were 96.30%-103.9% and 95.7%-102.5%, respectively. Conclusion: The method was simple and accurate, which could be applied to the determination of menthone and pulegone in Herba Schizonepetae.
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Objective To investigate the clinical effecl of trabeculectomy with scleral tunnel in the treatment of refractory glaucoma. Design Prospective, randomized and comparative clinical study. Participants 87 patients (98 eyes) with refractory glaucoma. Methods The patients were randomly assigned to receiving trabeculectomy with or without scleral tunnel. The tunnel group (50 eyes) underwent trabeculectomy with an additional deep scleral tunnel of 5.0mm?1.5mm beneath the superficial scleral flap. The control group (48 eyes) underwent conventional trabeculectomy. The average follow-up period was 6 to 12 months posloperatively. Main Outcome Measures Visual acuity, intraocular pressures (IOP), filtering blebs, operative and postoperative complications. Results (1) No significant differences in visual acuity were found between two groups. (2) The postoperative IOPs were significantly lower than the preoperative IOPs in both groups, while the IOPs on the 7th day after the surgery between the two groups were not different significantly. The average postoperative IOP at the 6th month in the tunnel group was 14.34?3.95 mmHg and 19.57?7.76 mmHg in the control group, which were different significantly (P