1.Gene mutations detection in 469 patients with G6PD deficiency in Dongguan
Wenrui LI ; Minnan YE ; Qi PENG ; Siping LI ; Jianling LONG ; Yuejing HE ; Qingqiu CHENG ; Xiaomei ZENG ; Xiaomei LU
International Journal of Laboratory Medicine 2014;(17):2287-2288
Objective To explore the genotype of patients with glucose-6-phosphate dehydrogenas(G6PD)deficiency in Dong-guan and provide the basis for the clinical diagnosis and prevention.Methods The clinical data of patients who took G6PD activity screening in the hospital were collected from January 2011 to December 2013,the G6PD/6PGD ratios were recorded.469 patients with positive G6PD/6PGD ratio were randomly enrolled in the study,whose mutations were detected by reverse dot blot(RDB)as-say.Results During this period,we measured G6PD activity of 16 464 cases by G6PD/6PGD ratios,there were 672 positive cases, the positive rate was 4.08%.Randomly selected 469 positive samples,detected their genotye by RDB assay.We detected 173 cases of G1376T,141 cases of G1388A,82 cases of A95G,60 cases of G871A,23 cases of G392T,14 cases of C1024T.In addition to that, we also found some rare mutations,such as 6 cases of C1004T,2 cases of T517C,1 cases of C1360T.65 cases of C1311T gene poly-morphism and 96 cases of dual gene mutations were detected.Conclusion The incidence of G6PD deficiency is high and the gene mutation types in Dongguan are both representative for Chinese population and with local heterogeneity.The study on gene muta-tions of G6PD deficiency is benefit for diagnosis and prevention.
2.Application of metagenomics next-generation sequencing in the diagnosis and treatment of spinal infection
Siping LONG ; Zhili LIU ; Shanhu HUANG ; Jiaming LIU
The Journal of Practical Medicine 2024;40(1):119-122,128
The incidence of spinal infections,a relatively rare infectious disease,is on the rise due to the empirical use of antibiotics that increases the chances of infection with drug-resistant bacteria,as well as advances in testing technology that have led to an increase in detection rates.Identifying the type of pathogen to target antibi-otics is the key to treatment.However,conventionaldetection methods have low detection rates and are time-consum-ing,which are not conducive to the rapid and accurate diagnosis of spinal infection.Metagenomics next-generation sequencing(mNGS)is a detection technique that can sequence all nucleic acid fragments in samples,the emer-gence of which subverts traditional detection methods and plays an important role in the diagnosis and treatment of spinal infections.This article summarizes the application of mNGS in the diagnosis and treatment of spinal infection.
3.Research advances in the bile acid membrane receptor TGR5 in biliary tract diseases
Siping CHEN ; Li HAN ; Peng SHU ; Xin DAI ; Long CHENG
Journal of Clinical Hepatology 2022;38(3):724-728
TGR5 is a bile acid-activated G protein-coupled receptor and plays an important role in the physiological and pathological processes of the biliary system. This article describes the normal expression of TGR5 in the liver and bile duct under normal physiological conditions and its functions including the regulation of bile acid secretion and metabolism and cytoprotection. This article also summarizes the changes in the expression and function of TGR5 under pathophysiological conditions and the mechanism of TGR5 in affecting the development and progression of biliary tract diseases through inflammatory response and cell proliferation and apoptosis. TGR5 may be a potential target for the treatment of biliary tract diseases in the future.