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 ToinvestigatethecorrelationbetweenCTimagingfindingsoflungadenocarcinomaandepidermalgrowth factorreceptor(EGFR)genemutation.Methods Theclinicaldataof150lungadenocarcinomapatientsinthehospitalfrom October 2015toOctober2017werecollectedretrospectively.AccordingtotheEGFRgenemutation,thepatientsweredividedintononeffectivemutation group (n=78)andeffective mutationgroup (n=72).Univariateanalysisand multivariate L o g istic regression modelwereperformed toexplorethepredictionsignsofeffectiveEGFRgenemutationinlungadenocarcinoma.Results Univariateanalysisshowedthatthe proportionsoffemalepatients,smokinghistory,CTfindingsofspiculesign,necroticsign,pleuralindentationandnonfibrosisin theeffectivemutationgroupweresignificantlyhigherthanthoseinnoneffectivemutationgroup(P<0.05).However,therewereno significantdifferencesbetweenthesetwogroupsinage,diameteroflesions,locationoflesions,densityoflesions,lobulatedsign, cavitation sign ,air bronchogram and pleuralthickening sign (P>0 .05 ).M ultivariate L o g istic regression analysis showed thatfemale (OR=2.612),spiculesign(OR=2.476),necroticsign(OR=2.846),pleuralindentation(OR=2.221)andnonfibrosis(OR=2.476)were independentpredictorsofeffectiveEGFRgenemutationinlungadenocarcinoma(P<0.05).Conclusion FemaleandlungadenocarcinomaCT findingsofspiculesign,necroticsign,pleuralindentationandnonfibrosisarerelatedtoEGFRgenemutation,whichisofgreatsignificanceto distinguishingwildtypefrom mutanttypeofEGFRgeneandguidingtheclinicaltreatment.
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Objective To detect the frequency of BRAF/ KRAS and PIK3CA mutations in the small cell lung cancer (SCLC) specimens from a large population of Chinese patients and to analyze the gene mutation and clinical characteristics. Methods A total of 557 samples were collected from SCLC patients from 2009 to 2014.BRAF,KRAS,PIK3CA,NRAS and MEK1 gene mutations were detected by the dideoxy sequencing. Chi-square test was adopted to analyze the correlation between clinical factors and gene mutation. Kaplan-Meier method was utilized for survival analysis. Cox model was used for multivariate prognostic analysis. Results BRAF mutations were detected in 13 out of 557 specimens. The mutation types included V600E (n= 5) ,V600A (n= 2) ,V600M (n= 1) ,D594G (n= 1),G464E (n= 1),K601R (n= 2) and S605N (n= 1).KRAS mutation was detected in 6 cases including G12C (n= 3),G12A (n= 1),G12D (n=1) andG13D (n= 1).PIK3CA mutation was observed in 4 samples including E545G (n= 2) and H1047R (n= 2).Besides,NRAS mutation (Q61R) was detected in 1 case and MEK1 mutation (D61Y) was noted in 1 case. These gene mutations were not significantly correlated with the age, gender, smoking status and clinical staging of the patients. Univariate survival analysis demonstrated the median survival time of patients with gene mutation was (10.30±0. 751) months (95％CI:8. 829-11. 771 months),significantly shorter than (12.80±0. 543) months (95％CI:11. 736-13. 864 months) of their counterparts without gene mutation (P=0. 011). Conclusions BRAF/ KRAS and PIK3CA gene mutation is detected in a small proportion of SCLC patients. These gene mutations are not significantly correlated with the clinical characteristics. Univariate survival analysis demonstrates that negative these gene mutations are negatively correlated with the clinical prognosis of SCLC patients.