1.Single cell sequencing data reveal the diagnostic and predictive value of DMKN in ovarian cancer
Yan GAO ; Mengcheng YAO ; Zhefeng LI ; Xiaoyang HAN ; Wentao YUE
Practical Oncology Journal 2023;37(6):478-484
Objective The aim of this study was to draw single-cell transcriptome profiles of high-grade serous ovarian cancer(HGSOC),borderline ovarian cancer(OC),and normal ovaries in order to identify biomarkers that can diagnose and predict the prognosis of OC.Methods The differentially expressed genes between HGSOC,borderline OC,and normal ovarian tissues were ana-lyzed using single-cell data sequenced(SRA database:PRJNA756768).The cell subsets associated with tumor progression were screened by functional enrichment,cell communication between different subsets was analyzed by Cellchat,and cell differentiation traj-ectories were explored by pseudotime analysis to finally determine the subsets most relevant to tumor progression.Combined with OC transcriptome data of OC from the Cancer Genome Atlas(TCGA)with patient prognosis,biomarkers for diagnosing and predicting sur-vival of OC patients were ultimately screened.Results After using t-distribution stochastic neighbor embedding(t-SNE)for di-mensionality reduction,nine cell subpopulations were obtained:endothelial cells,myeloid cells,fibroblasts,T cells,stromal cells,B cells,and 3 epithelial cell subpopulations(C1,C4,and C7).Further analysis revealed that copy number variation(CNV)in the C4 group had the highest score in HGSOC,higher than those of borderline OC and normal ovaries,and was negatively correlated with prognosis.DMKN was a key marker gene in this group.Transcriptome analysis of OC in the TCGA database showed a close correlation between DMKN and poor prognosis(P=0.026),and the diagnostic efficacy of DMKN for OC was significant(A UC=0.906).Con-clusion This study is based on single-cell sequencing data to screen for DMKN,which can effectively diagnose and predict the prognosis of OC.This study provides new ideas for the diagnosis and prognosis prediction of OC.
2.Progress of SLC12 family related renal tubular disorders
International Journal of Pediatrics 2022;49(1):29-33
The ions transport in human cells plays a key role in maintaining normal physiological functions of cells, and the solute transporter(SLC)is responsible for most of the ions transport in somatic cells.The SLC12 family encodes electrically neutral cation-coupled chloride ion cotransporters, which are essential in maintaining intracellular and extracellular chloride balance and related cellular physiological processes.At present, there are 9 members of SLC12 family, and the expression and distribution of these family members are tissue-specific.They are distributed in renal tissues and mainly expressed in renal tubular epithelial cells, and their distribution and expression are significantly different, so their physiological roles in kidney are also different.This article will briefly review the physiological role of SLC12 family in kidney and related renal tubular diseases.
3.Risk analysis of vaccination in children with genetic epilepsy combined with febrile seizures plus
Xiaoli SHAO ; Jiani HU ; Yingping YAO ; Dong YU ; Zhefeng YUAN
Chinese Journal of Neuromedicine 2020;19(2):176-180
Objective To assess the risk of vaccination in children with genetic epilepsy combined with febrile seizures plus (GEFS+).Methods Sixty-seven children with GEFS+,admitted to our hospital from May 2016 to May 2019,were enrolled in our study;using targeted second-generation sequencing technology,these patients were divided into positive SCN1A gene mutation group (SCN1A+group,n=l 1) and negative SCN1A gene mutation group (SCN1A-group,n=51) after kicking out 5 patients with other gene mutations.The frequencies of convulsion and changes of body temperature after vaccination were analyzed retrospectively in the two groups from birth to age of 7 years.The levels of interleukin (IL)-2,IL-6,IL-10 and tumor necrosis factor (TNF)-α in peripheral blood were measured by flow cytometry in both groups after seizures.Results Children from SCN1A+ group were vaccinated for 34 times,with incidence of post-vaccine convulsion reaching 47% (16/34);children from SCN1A-group were vaccinated for 186 times,with incidence of post-vaccine convulsions reaching 6.45% (12/186);incidence of post-vaccine convulsion was statistically significant between the two groups (P<0.05).The mean body temperature in children from the SCN1A+ group ([38.06±0.57] ℃C) during convulsion was significantly lower than that in SCN1A-group ([39.49±0.49] ℃,P<0.05).Expressions of IL-6 and IL-10 in peripheral blood after convulsion in children from SCN1A+ group (96.80±25.05 and 74.90±18.28) were significantly higher than those in SCN1A-group (72.97±4.81 and 43.99±10.63,P<0.05).Conclusion GEFS+ children in the SCN1A+ group are more prone to convulsion after vaccination than those in the SCN1A-group;cytokines may be involved in the development of convulsion.

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