1.Study on the value of TSH screening for neonatal congenital hypothyroidism in Shantou
Jiena XIE ; Yanwei ZHANG ; Shuyi GUO
International Journal of Laboratory Medicine 2017;38(1):77-79
Objective To explore the method of establishing the value of TSH in the diagnosis of neonatal congenital hypothyroidism in Shantou area.Methods Time resolved fluorescence was conducted to detect the level of heel blood thyrotropin(TSH)in 90 798 neonatal from January 2013 to December 2015 in Shantou area.Percentile method and ROC curve were used to establish the value of TSH screening.Results The frequency of TSH screening in 90 798 cases of neonatal showed normal distribution.The average content of TSH was(2.38-t-2.12)mU/L,ranging 0.0-324.2 mU/L;P90 for 3.46 mU/L;P95 for 4.63 mU/L and P99 for 8.88 mU/L.CH incidence rate in Shantou was 1/2 974;the P99 percentile method TSH diagnostic cut-off value was 8.88 mU/L,and the ROC curve diagnostic cut-off value was 8.49 mU/L.Besides,the recall rate analyzed by chi square test showed no significant difference between the P99 percentile method and ROC curves (χa =0.965,P =0.326).While,a significant difference were found between P99 percentile method and kit(χ2 =10.861,P=0.001),ROC curve and kit(χ2 =5.450,P =0.020).The sensitivity of P99 percentile method and ROC curve method was 100.0 %.The Youden index of P99 percentile method was 96.9 %.Conclusion The P99 percentile method is more suitable for clinical neonatal diseases of TSH screening.
2.Chromatographic fingerprint of Cistanche deserticola by HPLC
Jiena XIE ; Mingbo ZHAO ; Fengwei WU ; Pengfe TU
Chinese Traditional and Herbal Drugs 1994;0(02):-
Objective To establish chromatographic fingerprint of Cistanche deserticola by HPLC and evaluate the difference of inner qualities of samples from different habitats.Methods HPLC gradient elution was applied to establish the chromatographic fingerprint and "Computer Aimed Similarity Evaluation System" was used in data analysis.Results This chromatographic fingerprint method has good precision, stability, and repeatability; the fingerprints of the samples from different habitats were quite different.Conclusion There are notable differences in inner qualities of the samples from different habitats.This chromatographic fingerprint method can be used to evaluate the quality of C.deserticola.
3.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.