Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates / 中国当代儿科杂志

OBJECTIVES@#To explore the application of whole-genome sequencing (WGS) in the rapid clinical diagnosis of critically ill neonates.@*METHODS@#The critically ill neonates who admitted to the neonatal intensive care unit of Children's Hospital of Fudan University and underwent WGS from August to September, 2019 were enrolled in this prospective study. The genetic testing results and clinical outcome were analyzed with reference to the sequencing data and clinical features of the neonates.@*RESULTS@#A total of 15 neonates were tested, among whom there were 9 boys and 6 girls. The main reason for hospitalization included abnormal breathing in 7 neonates, poor response in 2 neonates, feeding difficulty in 2 neonates, fever in 1 neonate, hypothermia in 1 neonate, preterm birth in 1 neonate, and convulsion in 1 neonate. The mean turn-around time was 4.5 days for WGS. Finally a genetic diagnosis was obtained for 3 neonates, with a positive diagnostic rate of 20% (3/15). Among the 3 neonates, 2 neonates were withdrawn from the treatment due to severe conditions and 1 neonate died on the day when the sample was sent for genetic testing, whose etiology could be explained by the results of genetic testing.@*CONCLUSIONS@#WGS technique can provide a timely and effective diagnosis for critically ill neonates suspected of genetic diseases and provide genetic evidence for clinical treatment of critically ill cases.

Distribution of polymorphisms at promoter region of miR-17-92 in Guangxi population and association of its polymorphisms and lymphocytes / 中国免疫学杂志

Objective:To investigate the distribution characteristics of polymorphisms of rs9515692C/T and rs1352743A/G in the promoter region of miR-17-92 gene cluster in Guangxi people and compare them with those of other ethnic groups and explore the association of its polymorphisms and lymphocytes.Methods:The rs9515692C/T and rs1352743A/G of miR-17-92 gene cluster were genotyped by using SNaPshot technique and DNA sequencing.Detection of the number of lymphocytes using flow cytometry.The differences of polymorphisms between groups were analyzed statistically.Results:No significant differences of genotype and allele frequency in the two SNPs was observed between different gender in the Guangxi population(P>0.05).However,there were significant differences in the distribution frequencies of genotype and allele of Europeans,Japanese and Africans in rs9515692C/T and rs1352743A/G (P<0.05).Conclusion:Polymorphisms of rs9515692C/T and rs1352743A/G are different in different people.In addition,rs9515692C/T polymorphism may be associated with the number of B cells.

Distribution characteristics of polymorphisms of interleukin-22 gene in Guangxi population and their association with serum lipid levels / 中国病理生理杂志

AIM:To investigate the distribution characteristics of interleukin-22(IL-22)gene rs2227485C/T and rs2227491A/G polymorphisms in Guangxi people and the distribution differences with other ethnic groups ,and to ex-plore the difference levels of common lipid indexes in different genotypes.METHODS:SNaPshot technique and DNA se-quencing were used in 280 Guangxi persons to examine IL-22 genotypes and to analyzed the distribution frequencies of allele and genotype in these sites.The distribution frequencies in different sexes ,and the differences between groups and diffe-rence levels of common lipid indexes in different genotypes were analyzed statistically.RESULTS:Three genotypes of CC ,CT and TT were found in rs2227485C/T with the frequency distribution of 17.1％,49.3％and 33.6％,respectively.No significant difference between different sexes of each genotype and allele frequency in the Guangxi population was observed(P>0.05).Compared with the distribution frequencies of genotype and allele in HapMap -TSI,HapMap-HCB,HapMap-JPT and HapMap-MEX,those in Guangxi population showed statistically significant differences(P<0.05).Three geno-types of AA,AG and GG were found in rs2227491A/G with the frequency distribution of 16.1％,52.8％and 31.1％,re-spectively.There was no significant difference between different sexes of each genotype and allele frequency in the Guangxi population(P>0.05).The significant differences of genotype frequencies among Guangxi population ,HapMap-TSI,Hap- Map-JPT and HapMap-MEX were detected(P <0.05 ).Compared with the other 4 populations ,allele frequencies in Guangxi population had significant difference(P <0.05).There were significant differences in the levels of HDL-C and LDL-C among the 3 genotypes of rs2227491A/G.The level of HDL-C had difference between AG/AA genotype and GG genotype.In addition,the level of LDL-C had difference between AG/GG genotype and AA genotype(P<0.05).CON-CLUSION:rs2227485C/T and rs2227491A/G polymorphisms of IL-22 gene have differences in different populations.The rs2227491A/G polymorphism may be associated with serum lipid levels.

Expressions of bFGF and PTEN in cervical carcinoma and their clinical significance / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To investigate the expressions of bFGF and PTEN in cervical carcinoma and their clinical significance.</p><p><b>METHODS</b>Tissue microarray technique and immunohistochemistry SP method were used to detect the expressions of bFGF and PTEN in 143 cases of invasive carcinoma of cervix (ICC) and 20 cases of normal cervical epithelium remote from tumor (NCE). The relationship between the expressions of bFGF and PTEN in ICC and some factors relating to clinical pathology of cervical carcinoma such as histopathological grading, lymph node metastasis, stroma involvement and FIGO staging were analyzed.</p><p><b>RESULTS</b>The rate of the positive expression of bFGF in ICC was significantly higher than that in NCE 88.8% (127/143) vs. 25.0% (5/20, P = 0.000). The rate of positive expression of PTEN in ICC was significantly lower than that in NCE 67.1% (96/143) vs. 100.0% (20/20, P = 0.000). The expression of bFGF was positively correlated with lymph node metastasis and histopathological grading (r = 0.239, P = 0.004 and r = 0.369, P = 0.000, respectively). The expression of PTEN was negatively correlated with FIGO staging, histopathological grading and lymph node metastasis (r = -0.189, P = 0.024; r = -0.211, P = 0.011; r = -0.321, P = 0.000, respectively). The expression of bFGF was negatively correlated with the expression of PTEN in ICC (r = -0.261, P = 0.002).</p><p><b>CONCLUSION</b>The overexpression of bFGF and underexpression of PTEN are closely related to the invasion and growth of cervical carcinoma. Detection of the expression of both bFGF and PTEN may be of value in further understanding the biological behavior and predicting the prognosis of cervical carcinoma.</p>

Expression of COX-2 and MMP-9 in cervical carcinoma and their clinical significance / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To investigate the expressions of COX-2 and MMP-9 in cervical carcinoma and their clinical significance.</p><p><b>METHODS</b>Immunohistochemical SP method was used to detect the expressions of COX-2 and MMP-9 in 72 cases of invasive carcinoma of cervix (ICC) and 16 cases of normal cervical epithelium remote from tumor (NCE), and the relationship between the expressions of COX-2 and MMP-9 in ICC and some factors relating to clinical pathology of cervical carcinoma such as histopathological grading, lymph node metastasis, stroma involvement and FIGO staging were analyzed statistically.</p><p><b>RESULTS</b>The rates of positive expression of COX-2 and MMP-9 in ICC were significantly higher than those in NCE. COX-2: 88.9% in group ICC and 12.5% in group NCE, P = 0.000. MMP-9: 94.4% in group ICC and 43.8% in group NCE, P = 0.000. The expression of COX-2 was positively correlated with lymph node metastasis and stroma involvement (r = 0.296, P = 0.012 in group ICC and r = 0.257, P = 0.029 in group NCE, respectively). The expression of MMP-9 was positively correlated with FIGO staging (r = 0.329, P = 0.005) and histopathological grading (r = 0.351, P = 0.003). The expression of COX-2 was positively correlated with the expression of MMP-9 in ICC (r = 0.297, P = 0.011).</p><p><b>CONCLUSION</b>The overexpressions of COX-2 and MMP-9 are closely related to the invasion and growth of cervical carcinoma. The tissue with overexpression of COX-2 has strong invasion ability. COX-2 and MMP-9 have synergistic effect on proliferation, invasion and metastasis of cancer cells. Detecting the expression of both COX-2 and MMP-9 may be of value in further understanding the biological behavior and predicting the prognosis of cervical carcinoma.</p>