ABSTRACT
OBJECTIVE@#To determine the carrier rate of deafness-related genetic variants among 53 873 newborns from Zhengzhou.@*METHODS@#Heel blood samples of the newborns were collected with informed consent from the parents, and 15 loci of 4 genes related to congenital deafness were detected by microarray.@*RESULTS@#In total 2770 newborns were found to carry deafness-related variants, with a carrier rate of 5.142%. 1325 newborns (2.459%) were found to carry heterozygous variants of the GJB2 gene, 1071 (1.988%) were found with SLC26A4 gene variants, 205 were found with GJB3 gene variants (0.381%), and 120 were found with 12S rRNA variants (0.223%). Five newborns have carried homozygous GJB2 variants, two have carried homozygous SLC26A4 variants, five have carried compound heterozygous GJB2 variants, and four have carried compound heterozygous SLC26A4 variants. 33 neonates have carried heterozygous variants of two genes at the same time.@*CONCLUSION@#The carrier rate of deafness-related variants in Zhengzhou, in a declining order, is for GJB2, SLC26A4, GJB3 and 12S rRNA. The common variants included GJB2 235delC and SLC26A4 IVS7-2A>G, which are similar to other regions in China. To carry out genetic screening of neonatal deafness can help to identify congenital, delayed and drug-induced deafness, and initiate treatment and follow-up as early as possible.
ABSTRACT
Objective To investigate the the preventive and management methods of pure-NOTES transanal total mesorectal excision (pure-NOTES TaTME) with postoperative anastomotic complications.Methods Retrospectively analyzed the clinical data of 59 cases with low and middle rectal cancer who were underment pure-NOTES TaTME in Linzi District People's Hospital,and discussed the situction of the complications.Results Postoperative anastomotic complications were occurred in 3 cases,anastomotic leakage in 1 case,anastomotic stenosis in 1 case,anastomotic stenosis and leakage in 1 case,accounting for 5.1％.Conclusions For suitable rectal neoplasms patients,pure-NOTES TaTME operation doesn't increase the incidence of anastomotic complication,and it's is safe and feasible.Preoperative preparation,good blood supply,tension-free anastomosis,and correct choice and using of stapler and anastomotic drainage tube are the key to reduce anastomotic complications.