1.Ultrasonic appearances of intrascrotal adenomatoid tumor
Wenjin LIN ; Ensheng XUE ; Liyun YU ; Shun CHEN ; Rongxi LIANG ; Qingfu QIAN
Chinese Journal of Ultrasonography 2015;24(11):992-995
Objective To explore the sonographic features of intrascrotal adenomatoid tumor.Methods The sonographic features of 21 cases with intrascrotal adenomatoid tumor confirmed by surgery and pathology were retrospectively analyzed.Results Twenty-one cases with intrascrotal adenomatoid tumor could be typed into 3 ultrasonic patterns:(1) The homogeneous echo type:15 cases,their ultrasonic features were homogeneous echo,including 5 cases with low echo,8 case with equal echo,and 2 case with high echo;5 cases with testicular albuginea adenomatous tumors were also homogeneous echo,2 cases of equal echo,2 cases of low echo and 1 case of high echo that was posterior echo attenuation slightly.(2) The edge halo type:4 cases,they showed the epididymis or testis sheath round or oval nodules,of which the middle was low echo and the edge is high echo halo ring.(3) The mixed echo type:2 cases,they showed cystic mixed echo of epididymis nodules,1 case with irregular cystic areas and poor sound transmission,while the other one with good sound transmission cystic areas and a small papillae on the wall.Conclusions Sonography is a valuable method for diagnosis of intrascrotal adenomatoid tumor.The edge halo type has sonographic features.
3.The expression of interferon-regulatory factor genes in patients with systemic lupus erythematosus
Jie QIAN ; Nan SHEN ; Gui-Mei GUO ; Nian-Hong WAN ; Yan LIN ; Xin-Fang HUANG ; Hui WU ; Shun-Le CHEN ;
Chinese Journal of Rheumatology 2003;0(09):-
Objective To observe whether the expression of interferon-regulatory factor genes are re- lated to systemic lupus erythematosus (SLE).Methods The clinical data of 45 SLE patients and 37 normal controls were collected.Total RNA of peripheral blood was extracted and transcripted into cDNA.Sybr green dye based real-time quantitative PCR method was used to compare the expression (indicated as-??Ct value) of IRFI,IRF4,IRF8 in patients with SLE and those in the controls.Results The levels of IRF1,IRF4 and IRF8 mRNA were-3.90?0.19,-8.04?0.25 and 3.60?0.15 respectively in normal controls.In SLE patients, IRF4 mRNA expression was -8.82?0.18,higher than that in normal (P=0.011).But IRF8 mRNA expression was 3.09?0.13,lower than that in normal (P=0.012).Conclusion Abnormal IRF mRNA expression is found in the peripheral blood of SLE patients.IRFs may play roles in the pathogenesis of SLE by affecting the differen- tiation of Th cells.
4.Association of single nucleotide polymorphisms in the promoter region of the TLR9 gene with childhood atopic asthma.
Xu-bo QIAN ; Ying WU ; Shu-yan CAO ; Xiao-hong CAI ; Chen-yi YU ; Miao-yan XUAN ; Shun-shun CAO ; Xiu-cui LI
Chinese Journal of Medical Genetics 2011;28(2):185-189
OBJECTIVETo investigate the distribution characteristics of the single nucleotide polymorphisms (SNPs) in the promoter region of the toll-like receptor 9 gene (TLR9) in Chinese Han children from Zhejiang province, and their associations with asthma susceptibility and phenotypes.
METHODSA case-control study was conducted. A total of 312 asthmatic children aged between 1.9 and 11.6 and 339 age matched healthy controls were enrolled in this study from April 2007 to November 2008. The -1486 C/T in rs187084 and -1237 C/T in rs5743836 loci of the TLR9 gene were genotyped by direct DNA sequencing of the PCR products. Serum levels of IFN gamma, IL-12 and IL-4 were detected by enzyme linked immunosorbent assay.Serum levels of total IgE were detected by chemiluminescence, and serum levels of antigen specific IgE antibodies were detected by fluoroenzymeimmunoassay.
RESULTS(1) The -1486 C/T polymorphism was identified in both groups. The genotype frequencies of TT, TC and CC at -1486 C/T were 41.0%, 44.3%, 14.7% in the healthy controls, and 38.8%, 48.4%, 12.8% in the asthmatic children. The -1237 C/T polymorphism was not detected in the population. (2) There were no statistically significant differences in the allele and genotype frequencies at the -1486 C/T locus between the two groups (P;>0.05). (3) Serum levels of IFN gamma and IL-4 differed significantly among the three genotypes at the -1486 C/T locus in asthmatic children (P<0.01). The CC genotype had the lowest levels of serum IFN gamma and the highest levels of serum IL-4 among the three genotypes. There were no significant differences in these cytokines among the healthy controls (P>0.05). No statistical differences of serum IL-12 were found among the three genotypes in the two groups (P>0.05). (4) There were no significant differences of total IgE (log-transformed) among the three genotypes in the asthmatic children (P>0.05).
CONCLUSIONThe -1237 C/T polymorphism of TLR9 gene was not detected in Chinese Han children in this study. The -1486 C/T polymorphism was associated with the levels of serum IFN gamma and IL-4 in children with asthma. However, there were no correlations between the -1486C/T polymorphism and serum IL-12 levels, total IgE levels or asthmatic susceptibility.
Asthma ; blood ; genetics ; Case-Control Studies ; Child ; China ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Toll-Like Receptor 9 ; genetics
5.Single nucleotide polymorphisms of deoxyribonuclease I and their expression in Chinese systemic lupus erythematosus patients.
Xue-Bing FENG ; Nan SHEN ; Jie QIAN ; Li SUN ; Jing HUA ; Shun-le CHEN
Chinese Medical Journal 2004;117(11):1670-1676
BACKGROUNDPrevious studies have suggested that interrupted clearance of nuclear DNA-protein complexes after cell death might initiate and propagate systemic lupus erythematosus (SLE). Deoxyribonuclease I (DNaseI) may be responsible for the removal of DNA from nuclear antigens at sites of high cell turnover, thus preventing the onset of SLE. The purpose of this study was to genotype the single nucleotide polymorphisms (SNPs) of DNase1 and characterize its gene expression and alternatively spliced transcripts in Chinese patients with SLE in order to understand the pathogenic role of DNase1 in human SLE.
METHODSFour SNPs located at the 3' end of the DNase1 gene, as listed on the SNP website, were selected for analysis. Those SNPs with relatively high heterozygosity were chosen for genotyping in 312 Chinese SLE families using the Taqman minor groove binder (MGB) allelic discrimination method. Haplotypes were constructed and linkage disequilibrium tests were performed using GeneHunter. DNase1 mRNA expression was detected using real-time polymerase chain reaction (PCR), and alternatively spliced transcripts were isolated using capillary electrophoresis. Any effects the specific SNP haplotypes had on DNase1 gene expression and the alternatively spliced transcripts were also assessed.
RESULTSrs179982 and rs1053874 had high heterozygosity, about 0.5 in this Chinese cohort, while rs1059857 was also found to be heterozygous. Analysis of the haplotype combining rs179982-rs1030874 (C-G) and rs179982-rs1030874-rs1059857 (C-G-G) revealed a skewed transmission in favor of affected offspring. DNase1 gene expression was higher in SLE patients than in normal controls (P < 0.001), but this was not related to disease activity or SNP haplotype. Capillary electrophoresis revealed that the pattern of alternatively spliced transcripts in patients differed from that of normal controls. Furthermore, different SNP haplotype combinations generated different transcript patterns in SLE patients.
CONCLUSIONSThe SNP haplotypes are in linkage disequilibrium in Chinese SLE patients and may induce the disease through a modification of DNase1 mRNA splicing rather than at the level of mRNA expression. There is a relatively unique transcript band in SLE patients independent of special haplotype, which suggests that other unknown factors might be involved in adjusting gene expression.
Adolescent ; Adult ; Alternative Splicing ; Deoxyribonuclease I ; genetics ; Female ; Haplotypes ; Humans ; Linkage Disequilibrium ; Lupus Erythematosus, Systemic ; genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide
6.Correlation between polymorphism in the promoter of DNA methyltransferase-3B and the risk of colorectal cancer.
Qian BAO ; Bang-shun HE ; Li-ping CHEN ; Ling GU ; Zhen-lin NIE ; Shu-kui WANG
Chinese Journal of Preventive Medicine 2012;46(1):53-57
OBJECTIVETo explore the correlation between the polymorphism in the DNA methyltransferase-3B (DNMT3B) gene promoter single nucleotide polymorphism (SNP)-149C→T (rs2424913) and-579G→T(rs1569686) and the genetic susceptibility to colorectal cancer in Jiangsu population.
METHODSGenomic DNA was extracted from the leukocyte cell of blood samples collected from 544 colorectal cancer (CRC) patients (including 280 cases of colon cancer and 264 cases of rectal cancer) since January 2009 and July 2010, in a hospital, Jiangsu Province. The same samples were collected from the other 533 control subjects. Polymerase chain reaction with restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing analysis were employed to assess the polymorphism of DNMT3B gene promoter-149C→T and-579G→T.
RESULTSFor DNMT3B-149C→T, no significant deviation was observed in the genotype distributions of polymorphisms between CRC cases (TT: 98.90% (538/544); CT: 1.10% (6/544)) and controls (TT: 97.75% (521/533); CT: 2.25% (12/533)) (χ(2) = 2.07, P = 0.15). The CC genotype was not detected in either patients or control subjects. The DNMT3B-149CT genotype was not associated with the risk of CRC (adjusted OR = 0.48, 95%CI: 0.18 - 1.30). For DNMT3B-579G→T, the genotype distributions of polymorphisms in CRC patients (TT: 90.07% (490/544); GT: 9.19% (50/544); GG: 0.74% (4/544)) were significantly different from those in control group (TT: 81.80% (436/533); GT: 17.82% (95/533); GG: 0.38% (2/533)) (χ(2) = 15.49, P < 0.05). The results showed that the-579 G allele could significantly decrease the risk of CRC (adjusted OR = 0.50, 95%CI: 0.35 - 0.72) in comparison with the -579 TT genotype. In addition, stratification analysis showed that for DNMT3B-579G→T, the genotype distributions of polymorphisms in colon cancer (TT: 92.50% (259/280); GT: 7.50% (21/280)) were significantly different from those in the controls (TT: 81.80% (436/533); GT: 17.82% (95/533); GG: 0.38% (2/533)) (χ(2) = 13.53, P < 0.05); and similar result was found in rectal cancer (TT: 87.50% (231/264); GT: 10.98% (29/264); GG: 1.52% (4/264)) and controls (TT: 81.80% (436/533); GT: 17.82% (95/533); GG: 0.38% (2/533)) (χ(2) = 5.64, P = 0.018). G allele carriers could decrease the risk of colon cancer (adjusted OR = 0.38, 95%CI: 0.23 - 0.63), and the risk of rectal cancer (adjusted OR = 0.65, 95%CI: 0.42 - 0.99). However, for DNMT3B-149C→T , there were no significant deviation in the genotype distributions of polymorphisms between colon cancer (TT: 98.57% (276/280); CT: 1.43% (4/280)) and controls (TT: 97.75% (521/533); CT: 2.25% (12/533)) (χ(2) = 0.82, P = 0.366); and there was no significant deviation between rectal cancer (TT: 99.24% (262/264); CT: 0.76% (2/264)) and controls (TT: 97.75% (521/533); CT: 2.25% (12/533)) either (χ(2) = 1.89, P = 0.169).
CONCLUSIONOur research demonstrates that the-579 G allele is a potential protective factor for the occurrence of CRC, however, the polymorphism of DNMT3B-149 gene shows no close correlation with the occurrence and development of CRC among Chinese population.
Aged ; Alleles ; Asian Continental Ancestry Group ; genetics ; Case-Control Studies ; Colorectal Neoplasms ; genetics ; DNA (Cytosine-5-)-Methyltransferases ; genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide
7.Deoxyribonuclease I gene expression in systemic lupus erythematosus patients.
Xue-bing FENG ; Nan SHEN ; Shun-le CHEN ; Jin HUA ; Li SUN ; Jie QIAN
Chinese Journal of Medical Genetics 2003;20(6):477-481
OBJECTIVETo observe whether deoxyribonuclease I (DNASE1) gene expression and its DNASE1 mRNA expression was detected by real-time polymerase chain reaction and its alternatively spliced transcripts were performed by capillary electrophoresis. An analysis was also made to disclose whether specific single nucleotide polymorphisms (SNPs) haplotype had effects onDNASE1 gene expression and its alternatively spliced transcripts.
RESULTSDNASE1 gene expression was higher in SLE patients than in normal controls (P<0.001), and in patients it was found to be of no relationship with SLE disease activity index score. However, it was increased in female patients. Capillary electrophoresis revealed that the pattern of alternatively spliced transcripts in patients was not the same as that in normal controls. Moreover, it seemed that different SNPs haplotype combination might show different transcript pattern in SLE patients.
CONCLUSIONIn SLE patients, DNASE1 gene expression is abnormal and there are alternatively spliced transcripts different from those in normal controls. DNASE1 gene is a critical factor in the pathogenesis of SLE.
Adolescent ; Adult ; Alternative Splicing ; Deoxyribonuclease I ; genetics ; Female ; Gene Expression ; Humans ; Lupus Erythematosus, Systemic ; genetics ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide
8.Validation of HPLC method for the determination of polydatin in giant knotweed rhizome.
Yu-Jiao LI ; Qing LI ; Jing MA ; Qian-Qian CHEN ; Kai-Shun BI
Acta Pharmaceutica Sinica 2013;48(4):536-540
An HPLC method has been developed to determine polydatin in giant knotweed rhizome. In order to systematically validate the method, specificity, precision, linearity of reference solution and test solution, repeatability, reproducibility, accuracy, stability and robustness were measured. In the robustness test, a one-variable-at-a-time procedure was applied to evaluate the influence of slight variations in method factors, including the flow rate, the column temperature, the extraction time, and etc., on the assay result of polydatin. No significant differences were found when the process parameters changed during the experimental domain. And system suitability test limits were defined based on the robustness test. Results showed that the developed method was accurate, reproducible and robust.
Chromatography, High Pressure Liquid
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methods
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Drug Stability
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Fallopia japonica
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chemistry
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Glucosides
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analysis
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Plants, Medicinal
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chemistry
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Reproducibility of Results
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Rhizome
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chemistry
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Sensitivity and Specificity
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Stilbenes
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analysis
9.Detection of Immune Cell Subsets of Peripheral Blood in Hepatocellular Carcinoma before Liver Transplantation
Xiao-Hong DENG ; Qian-Qian ZHANG ; Yan CAI ; Juan OUYANG ; Mao-Gen CHEN ; Xiu-Xin TANG ; Xiao-Shun HE ; Jun-Qi HUANG
Journal of Sun Yat-sen University(Medical Sciences) 2018;39(2):178-185,226
[Objective]To investigate the characteristics of immunophenotypes in hepatocellular carcinoma(HCC) before liver transplantation.[Methods]The immunophenotypes of T-,B- cells,monocytes,dendritic cells(DC)and NK-cells in peripheral blood from 6 HCC patient who were ready to have liver transplantation and 6 healthy volunteers were analyzed by multicolor flow cytometry.[Results]In the patients,the proportions of CD4+PD-1+T cells,Treg cell (CD4+CD25+CD39+T cells),CD19+B cells,Plasmablasts(CD27highCD38highIgD-IgM-),classical monocytes(CD14high CD16-)and mature NK-cells(CD3-CD56high)were all higher than those in the healthy controls(all P<0.05).However, marginal zone B cell(CD27+IgD+),Non-switched B cells(CD27+CD38dimIgM+),intermediate monocytes(CD14high CD16+)and immature NK-cells(CD3-CD56+)were lower than those in the healthy controls(all P<0.05). And there wasn't any obvious difference in quantity being observed among other cell types.[Conclusion]There was difference in the immunophenotypes of immune cells in peripheral blood between HCC patients before liver transplantation and healthy people.And this finding exerts important effects on monitoring the immune status of the patients after liver transplantation and guiding the administrations of immunosuppressors.
10.Key points about atlanto-axial internal-fixation and fusion using Gallie's technique.
Xiong-sheng CHEN ; Lian-shun JIA ; Wen YUAN ; Xiao-jian YE ; De-yu CHEN ; Xu-hui ZHOU ; Dian-wen SONG ; Lie QIAN ; Jun TAN
Chinese Journal of Surgery 2004;42(21):1312-1315
OBJECTIVETo study the clinical problems about posterior atlanto-axial internal-fixation and fusion for atlanto-axial instability or dislocation.
METHODSSurgical treatments of 138 cases with atlanto-axial instability or dislocation were reviewed. There were 62 cases of odentoid malformation, 54 cases of odentoid fracture or rupture of transverse ligament, 22 cases of subluxation and rotation. All cases were treated using Gallie's technique. Six cases were also fixed with transarticular screws, and protected with Philadelphia collar. Other patients were fixed with plaster paris brackets. The followed-up period was 1 to 12 years with an average of 3 year and 5 months.
RESULTSAccording to Sumi's criteria, excellent 70 cases (50.7%), good 40 cases (29.0%), fair 15 cases (10.9%), poor 13 cases (9.4%). 9 cases with bone graft postponed fusion were cured by enhance external-fixation. 2 cases with nonunion were treated with revision surgery. Complication of cord injury happened in 1 case.
CONCLUSIONGallie's fusion technique is an effective method to manage the atlanto-axial instability or dislocation. Skull distraction before operation and reliable external-fixation post operative are important assistant measures. Key points for successful operation are careful wiring or cable traversing, decortication of posterior arc of C1, and maintaining the physiological height between C1 and C2 posterior arc. Indications and objectives should be conformed before revision surgery for failure cases.
Adolescent ; Adult ; Atlanto-Axial Joint ; surgery ; Bone Transplantation ; Child ; Female ; Humans ; Joint Dislocations ; surgery ; Joint Instability ; surgery ; Male ; Middle Aged ; Retrospective Studies ; Spinal Fusion ; adverse effects ; methods ; Transplantation, Autologous