1. Retrospective analysis of 173 cases of oral poisoning in children
Yupin LI ; Jiena MA ; Yang YANG ; Xun JIANG ; Baoxi WANG ; Chongkang HU
Chinese Pediatric Emergency Medicine 2019;26(11):825-829
Objective:
To analyze and discuss the social factors and clinical characteristics of oral poisoning in children, so as to provide reference for preventing and treating children poisoning.
Methods:
The clinical data of 173 pediatric patients with oral poisoning diagnosed and treated in Department of Pediatrics, the Fourth Military Medical University in Tangdu Hospital from January to December 2017 were retrospectively analyzed.
Results:
Pesticide and insecticide poisoning topped the list(68 cases, 39.31%)and the clinical manifestations of different poisons were varied.Geographically, the urban and rural distribution was mainly rural(118 cases, 68.21%), among which 103 cases(87.29%)were left-behind children in rural areas.Within one year, the number of urban children fluctuated slightly, with a small peak in March and the number of rural children fluctuated greatly, with a large peak in July.In addition, urban children were mainly poisoned by oral internal medicine(34 cases, 61.82%), while rural children were mainly poisoned by oral pesticide and insecticide(64 cases, 54.24%). The gender distribution was mainly male(101 cases, 58.38%), with the highest incidence in early childhood(97 cases, 56.07%). The main reasons for taking poison included children′s misadministration(123 cases, 71.10%), parents′ accidental feeding(24 cases, 13.87%), and elder children′s self-administration due to emotional factors(26 cases, 15.03%). The treatment methods were gastric lavage, emetic stimulation and enema according to the type and time of poisoning of administration, and timely use of specific antidote and symptomatic treatment was also the key to treatment.
Conclusion
The situation is more serious in rural areas of oral poisoning in children, especially for left-behind children in rural areas, who are at the highest incidence in early childhood.Oral pesticides, insecticides and oral drugs are the most prominent, and misadministration is the main reason.Family poison management should be strengthened for prevention, and treatment should vary according to the type and time of taking poison.
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.