Preliminary research on gene mutation in 10 children patients with esophageal atresia / 国际检验医学杂志

Objective To explore the genetic variation in children patients with esophageal atresia (EA ) to provide a prophase basis for further studying EA pathogenesis .Methods Ten children cases of EA were collected from the neonatal surgery department of our hospital .The high-throughput whole-exon sequencing was used to study the genetic variations ,and their clinical significance was analyzed by the bioinformatics methods .Results In the high quality sequencing data ,the effective clean reads accounted for 85 .36% ,in which 97% of the clean reads could participate in the comparison with the reference genes .The comparison analysis obtained 520541 single nucleotide polymorphism sites ,in which single nucleotide variation(SNV) occurred at 149622 sites ,including synonymous mutation ,nonsynonymous mutation ,stop codon gain ,stop codon loss ,frameshift insertion ,nonframeshift insertion ,unknown mutation ;meanwhile ,598 copy number variation genes were detected .The functional cluster analysis revealed that the mutant genes were closely related to cell biology .Conclusion The SNV occurrence may influence the expression and function of body various proteins and may play an important role in EA pathogenesis .

Early warning value of laboratory indexes for death risk in children with critical hand foot and mouth disease / 国际检验医学杂志

Objective To quantitatively analyze the early warning value of laboratory indexes for death risk in children with criti ‐cal hand foot and mouth disease (HFMD) .Methods The univariate and multivariate Logistic regression analysis were conducted to explore the independent risk factors of death in critical HFMD children .Then the area under receiver operating characteristic curve (AUC) was applied to give the comprehensive assessment of the test model ,as well as the early warning capacity and the optimal cut‐off level of laboratory indexes in critical HFMD children .Results The AUC of the Logistic regression model (Y ) established based on white blood cell ,neutrophil ,myoglobin ,creatinine for early predicting the death risk in critical HFMD children patients was 0 .847 (95% CI :0 .783 - 0 .911) ,which indicating that its diagnostic value was superior to single index .Conclusion The diag‐nostic value of the Y model established based on four indexes of white blood cell count ,neutrophile granulocytes count ,myohemo‐globin and creatinine is superior to any single index ,which has the better early warning value for the death risk in children with crit‐ical HFMD .