1.Efficacy of "tennis racket"-like flap with retrograde medial plantar on repairment of frontal plantar tissue defects
Ding CHENG ; Shuying CUI ; Chengshu ZHANG ; Yanling LI ; Heng LI ; Xiangling WANG ; Le ZHENG ; Junsheng HU ; Kuishui SHOU
Chinese Journal of Medical Aesthetics and Cosmetology 2017;23(6):386-389
Objective To explore the clinical experience and surgical method of the repairment of frontal plantar tissue defects by using "tennis racket"-like flap with the medial plantar retrograde,and to study the reliability in the clinical application of the medial plantar retrograde flap.Methods From June 2011 to June 2016,"tennis racket"-like flap with the medial plantar retrograde was used to repair the frontal plantar tissue defects in 10 cases.The cutting range of flap was from 3.5 cm × 2.0 cm to 8.0 cm x 4.0 cm in size;in all patients the donor area was covered by skin grafts.Results All flaps survived and wounds healed by first intention.In 10 patients the donor sites healed primarily with a straight scar,and the appearance and texture of the flaps were satisfactory.All patients were followed up from 6 to 24 months (mean 12 months).According to the Chinese foot function evaluation standard trial evaluation,the outcomes were excellent in 9 cases,good in 7 cases,and medium in 2 cases.Conclusions "Tennis racket"-like flap with the medial plantar retrograde is less anatomic variation with reliable blood supply,and sensory recovery is quick;the donor site is a small crater and cicatrial contractures are light;the cost is low.All patients are treated on one session and therefore it is an ideal method for the repairment of frontal plantar tissue defects.
2.Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome.
Xiang ZHAO ; Dan YANG ; Yumin JIA ; Yanling SHOU ; Liming WANG ; Xiangzhi WANG ; Jiena FU ; Huafeng GUO ; Jianping ZHAO ; Hao YIN ; Xueyan ZHANG ; Xiwei ZHU ; Lijuan GAO ; Chaojie MA ; Zedan XIE ; Man SHI
Chinese Journal of Medical Genetics 2020;37(9):958-961
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.