ABSTRACT
Objective@#To learn the mutation types and hearing screening results in local newborns of Zhoushan,in order to provide evidence for prevention and early detection of deafness.@*Methods@#The newborns in Zhoushan Maternal and Child Health Hospital from August 2015 to May 2018 were recruited and detected by matrix-assisted laser desorption ionization time of flight mass spectrometry（MALDI-TOF-MS）for twenty-two mutation sites of GJB2,SLC26A,GJB3 and 12SrRNA genes. The results of genotyping and hearing screening were analyzed and the hearing condition of abnormal newborns was followed up. @*Results@# Among 4 029 newborns,180（4.47%）newborns were identified to carry mutations,including 94 males（4.66%）and 86 females （4.28%）. There was no statistically significant difference in the rate of carrying mutations between male and female infants （P>0.05）. Totally 135 （3.35%）newborns failed in primary hearing screening,13（9.63%）of whom carried the deafness genes;3 894（96.65%）newborns passed,167（4.29%）of whom carried the deafness gene. There was statistically significant difference in the the rate of carrying mutations between newborns who passed and failed in primary hearing screening （P<0.05）. Eleven newborns were diagnosed with hearing loss,with a rate of 2.73‰. Among 180 mutations identified,there were 91 GJB2 mutations（2.26%）,57 SLC26A4 mutations（1.41%）,14 GJB3 mutations （0.35%）,15 mtDNA 12SrRNA mutations （0.37%）and 3 with mutations of two genes （0.07%）. Sixteen mutation sites （184 cases）were found,and the detection rate was 4.57%. @*Conclusion@#The rate of carrying deafness genes in Zhoushan newborns was 4.47%. The deafness genes found were mainly GJB2 and SLC26A4,the carrying rate of mtDNA 12SrRNA gene mutation was also high.
ABSTRACT
Objective To investigate clinical value of inflame factors in child patients with sepsis at different time points before the diagnosis time.Methods A retrospective model was performed in this study.24 child patients with sepsis in Department of Paediatrics from January 2014 to October 2016 were selected.At the time 72 h(group A),48 h(group B),24 h(group C) before the diagnosis time,plasma levels of HBP and serum levels of IL-6,IL-10 were detected by ELISA,and pre calcitonin (PCT) and high sensitive C reactive protein (hs-CRP) were detected by immunofluorescence.Compared to the same period,22 healthy cases were selected as the control.Repeated measure anova and Receiver operating characteristic curve analysis were performed.Results The plasma levels of HBP were (9.69 ± 1.30) μg/L,(12.82 ±2.03) μg/L,(15.46 ± 1.02) μg/L,(18.60 ± 1.10) μg/L at group A,group B,group C before the diagnosis time respectively.The plasma levels of HBP at all time points before the diagnosis time were significantly higher than the control (t =6.27,P ＜ 0.01;t =16.82,P ＜ 0.01;t =25.16,P ＜ 0.01).The serum levels of HBP at group B,group C were significantly higher than the last time point (t =5.62,P ＜0.01;t =10.25,P ＜ 0.01).Receiver operating characteristic curve(ROC) revealed that the areas of HBP at group A(0.823),group B (0.898),was significantly higher than the other inflame factors(Z =2.41,P ＜0.01;Z=2.02,P＜0.05;Z=0.38,P＞0.05;Z=0.32,P＞0.05)(Z=0.43,P＞0.05;Z=0.46,P＞0.05;Z =0.26,P ＞ 0.05;Z =0.57,P ＞ 0.05).It also revealed that at group C,area of PCT(0.941) was significantly higher than the other inflame factors (Z =0.12,P ＞ 0.05;Z =0.08,P ＞ 0.05;Z =0.03,P ＞0.05;Z-0.10,P ＞ 0.05).Conclusions HBP has a wide diagnostic window period for sepsis.IL-6,IL-10,PCT and hs-CRP have diagnostic value in partial periods of sepsis.