Objective To summarize the application and prospect of susceptibility weighted imaging （SWI） in diagnosis of hepatic disease. Methods The application of SWI in diagnosis of hepatic disease was analyzed retrospectively via reviewed the literatures home and abroad, and to look forward to the future of the clinical values of SWI. Results A number of hepatic diseases such as cirrhosis, hematochromatosis， and malignant tumors could induce iron overload in hepatic cell and Kuffper cell. Because of SWI is sensitive to vein， vascular abnormality, haemorrhage （including all kinds of metabolities after bleeding）， iron overload， calcification, and so on, so the use of SWI in hepatic disease is explored continually. Conclusions SWI may be a new method for diagnosis of hepatic disease, which can supply more valuable information for clinician.
ObjectiveTo evaluate the feasibility of susceptibility weighted imaging (SWI) in determining pathologic grade of hepatocellular carcinoma (HCC) in rat model. MethodsRat models were established first and SWI was performed before killing rats to be examined pathologically. The Edmondson-Steiner grading was used as gold reference for histological grade of HCC. The characters of intratumoral susceptibility signal intensity (ITSS) between lowand high-grade HCCs were compared. The diagnostic value of ITSS in differentiating lowfrom high-grade HCCs was evaluated. ResultsForty eight rat models of HCC were successfully established. Thirty two HCCs (18 low-grade HCCs and 14 highgrade HCCs) were included finally. The incidence of ITSS between two groups was not significant (P=0.113). Characters including component of ITSS (P=0.002) and ratio of ITSS in HCC (P < 0.001) were compared between lowand high-grade HCCs, which were both statistically significant. When score of ratio of ITSS in HCC was assessed as 2 scores, the sensitivity and specificity of ITSS in differentiating lowfrom high-grade HCCs were 85.7% (95% CI:74.9%-96.5%) and 94.4% (95% CI:83.6%-100%) respectively, and the area under roc curve (AUC) was 0.917. ConclusionSWI can evaluate characters of ITSS in HCC and can be an alternative method in grading HCC.
Tuberculosis remains a major public health problem. Genetic epidemiological studies have shown that the differences in host genes partly determine the susceptibility to tuberculosis. The occurrence of tuberculosis is the result of the joint action of Mycobacterium tuberculosis and host gene regulation immune response. The study of susceptibility candidate genes has differences in race, population and region, and the study of susceptibility gene polymorphism still has a long way to go in clinical precision diagnosis and treatment. The study and clinical application of mendelian susceptibility to mycobacterial disease can be used as a classic application of precision medical treatment in tuberculosis; although it is a rare case, this model is worthy of reference.
Objective To review the research progress of bone morphogenetic protein (BMP) and the liability of ossification of the posterior longitudinal ligament (OPLL). Methods Recent literature concerning BMP and the liability of OPLL was reviewed, analysed, and summarized. Results The single nucleotide polymorphisms (SNPs) of BMP gene may produce a minor cumulative effect and increase individual susceptibility to OPLL. A variety of environmental factors can promote the occurrence and development of OPLL by increasing the expression of BMP gene. Conclusion The SNPs of BMP gene may increase individual susceptibility to OPLL. However, interaction of cumulative effect of the SNPs and environmental factors can promote the liability to OPLL.
ObjectiveTo investigate the relationship between immunity related GTPase M gene (IRGM) polymorphism and pneumoconiosis susceptibility.MethodsTwo hundred and forty-eight pneumoconiosis patients were selected as a case group, 275 non-pneumoconiosis workers with similar age, sex, nationality, type of work and working age were selected as a control group. The genotypes and alleles of three single nucleotide polymorphisms (SNP) of IRGM were detected by Sanger sequencing in case group and control group. SNPstats software was used to analyze the correlation between single SNP and pneumoconiosis, and SHEsis software was used to analyze the linkage imbalance and haplotype of each locus.ResultsThe distribution frequency of IRGM rs4958846 TT genotype in the case group was higher than that of the control group. The distribution frequency of TC and CC genotype in control group was higher than that of the case group. The distribution frequency of T allele in the case group was higher than that of the control group. The distribution frequency of C allele in the control group was higher than that of the case group. All of the differences were statistical significant (P<0.05). There was no statistical significance for the distribution difference between the two groups in terms of genotype and allele at IRGM rs4958842 and rs4958843 (P>0.05). After linkage disequilibrium analysis to three gene loci at rs4958842, rs4958843 and rs4958846 of IRGM, there was linkage disequilibrium between each other gene loci (D'>0.7, r2>0.3). Haplotype analysis was conducted on three genetic loci and established four kinds of haplotypes, the frequency distribution of ACT and ACC haplotypes had statistical significances between the two groups (P<0.05), and the other haplotype had no significant correlation with the susceptibility of pneumoconiosis (P>0.05).ConclusionT allele and ACT haplotype of IRGM rs4958846 may be associated with pneumoconiosis susceptibility.
Objective To investigate the antibiotic resistance and their genetic homology of stenotrophomonas maltophilia isolated from January 2005 to February 2006 at intensive care unit（ICU） of 6 hospitals in Bejing area.Methods The minimal inhibitory concentration（MIC） of 12 antibiotics against 82 strenotrophomonas maltophilia was determined by broth dilution method.PFGE was used to analyze the homology of 82 stenotrophomonas maltophilia.Results The drug sensitivity tests in vitro showed these strains were resistance to commonly-used antibiotics.Antibiotics with sensitive rate over 50% included Doxycycline, gatifloxacin,cefoperazone-sulbactam,levofloxacin,Compound sulfamethoxazole,Ceftazidime and ticarcillin- clavulanate. 7-18 DNA bands of different size were present in the gel and different homology was shown among the 82 strains.Four couples with homology over 85% were isolated from the same ICU.Three strain were same clones in PLA General Hospitals first hospital.2 couples from the different wards had homology of 80.6% and 79.6% of，respictively.Others strains had either poor or no homology.Conclusions No clonal outbreak is certified at ICU of 6 hospitals in Beijing area. There are only vertical dissemination of single clone in 6 ICU wards.PFGE is an effective approach for drug resistance test and epidemic analysis.
ObjectiveTo explore the single locus mutation that related to hepatitis B virus (HBV) co-infection by means of genome-wide association study (GWAS) in Chinese Han patients with pulmonary tuberculosis (TB).MethodsA total of 946 patients with pulmonary TB enrolled between March 2013 and March 2018 were genotyped by Illumina Human Omni Express gene chip. After quality control, 389 972 single nucleotide polymorphisms (SNPs) of 703 patients with single TB infection and 53 patients with TB-HBV co-infection were included in the follow-up association analysis.ResultsThe SNP with the strongest statistical correlation signal was rs118122819 (P=2.923×10−12, odds ratio=7.933) located on chromosome 8p23.1. Other potential susceptibility genes included CDH4 (rs73309833), MARCH1 (rs3797020), and DNER (rs13393112), etc. In addition, a strong linkage imbalance between rs118122819 and rs4840365 (D’=0.88, r2=0.76) was found, while rs4840365 was located in the MFHAS1 gene region.ConclusionsThis study provides evidence for the presence of susceptibility gene locus for HBV co-infection in pulmonary TB patients, and provides important clues for the mechanism research, disease prevention, and treatment of co-infection. But these associations must be replicated and validated in larger studies.
ObjectiveTo explore the relationship between the single nucleotide polymorphisms of interleukin (IL)-23R gene and susceptibility to pulmonary tuberculosis in Southwest Chinese Han population.MethodsA total of 680 pulmonary tuberculosis patients (pulmonary tuberculosis group) and 680 healthy controls (healthy control group) diagnosed or examined between January 2014 and February 2016 were recruited from West China Hospital, Sichuan University. Improved multiplex ligation detection reaction (iMLDR) method was used to detect the polymorphism of rs1495965, rs7518660, rs7532161, rs10889677 and rs11465802 of IL-23R gene. The differences in allele frequency distribution, genotype, and genetic model of these five loci between pulmonary tuberculosis patients and healthy control were conducted by using SPSS20.0 and PLINK 1.07. Linkage disequilibrium and haplotype analysis were also carried out by Haploview 4.2.ResultsFinally, 657 pulmonary tuberculosis patients and 669 healthy controls were enrolled for further analyzed. The difference in the allele frequency distribution A (P=0.048), AA genotype (P=0.048) and additive model AA/GG (P=0.048) in rs1495965 was significant between the pulmonary tuberculosis group and healthy control group when we adjusted the gender and age. However, after correction by Bonferroni, the differences in allele frequency distribution, genotype and additive model of all these five loci between the two groups were not statistically significant (P>0.05). rs7518660, rs10889677 and rs11465802 had strong linkage disequilibrium (LD) with each other (r2>0.80); however, there was no association between haplotype GCA and tuberculosis susceptibility (P=0.343).ConclusionsThere is no association between rs1495965, rs7518660, rs7532161, rs10889677 and rs11465802 of IL-23R gene and genetic pulmonary tuberculosis susceptibility in Southwest Chinese Han population. To add loci in the coding region and analysis in different populations is necessary.
Objective To investigate the relationship of p53 codon 72 polymorphism and susceptibility to gastric cancer in high incidence area of Hexi area of Gansu province. Methods The Arg/Pro polymorphism of p53 gene was detected by real-time PCR in 140 patients with gastric cancer, 110 patients with gastric precancerous lesion and 125 healthy controls; Helicobacter pylori (Hp) infection was detected by Warthin-Starry silver method． Results The Pro allele frequencies of p53 gene in gastric cancer cases (0.543) were higher than those in gastric precancerous lesion (0.482) and controls (0.472). The Pro genotype had a more than 1.846 fold increased risk of gastric cancer 〔OR=1.846; 95% 〗CI (1.006-3.387); P =0.046〕． With statistical analysis， the genotype of p53 gene was correlated with location and Laurens histological type （ P ＜ 0.05）. A significantly higher risk of gastric cancer was also seen in cases with p53 Pro genotype, food, Hp infection, positive mind factor and positive family history． Conclusion There is a b correlation between the p53 gene codon 72 Arg/Pro polymophism and susceptibility to gastric cancer in Hexi area of Gansu province and the Pro/Pro genotype may be one of the major risk factors in patients with gastric cancer.
ObjectiveTo investigate the relationship between the gene polymorphism of autophagy-related gene 3 (ATG3) and the development and clinical symptoms of tuberculosis in tuberculosis patients in western China.MethodsAccording to the inclusion and exclusion criteria, 476 tuberculosis patients (tuberculosis group) who were admitted to West China Hospital of Sichuan University from December 2014 to November 2015 and 475 healthy controls (healthy control group) who underwent health examination during the same period were finally included. High-throughput genotyping technology was used to detect genotypes of three single nucleotide polymorphisms (SNPs) (rs2638029, rs2638037, rs3732817) of ATG3 gene, and relevant clinical data of subjects were collected. The relationship between gene polymorphism and susceptibility to tuberculosis and clinical symptoms was analyzed by statistical methods such as χ2 test and logistic regression model.ResultsExcept for GA genotype [odds ratio (OR) =1.375, 95% confidence interval (CI) (1.048, 1.805), P=0.022] and dominant genetic model GG+GA [OR=1.326, 95%CI (1.024, 1.717), P=0.032] in rs2638037, there was no statistically significant difference in the allele frequency, genotype and genetic patterns of rs2638029, rs3732817 and rs2638037 between the two groups (P>0.05), after the adjustment of the gender and age. But after correction by Bonferroni, GA genotype and dominant genetic patterns GG+GA showed no statistical significance between the two groups (P=0.132, 0.201). Haplotype CGA was associated with tuberculosis susceptibility [OR=1.262, 95%CI (1.001,1.593), P=0.048]. There was a statistically significant difference in weight loss symptoms among rs2638037 genotypes (χ2=8.131, P=0.017).ConclusionsThe haplotype CGA of three SNPs of ATG3 gene may be involved in the development of tuberculosis. The rs2638037 single nucleotide polymorphism may be related to weight loss, and more research is needed in the future.