1.Research on The Genealogical Inference Efficiency of High-density SNPs
Jing LI ; Yi-Jie SUN ; Wen-Ting ZHAO ; Zi-Chen TANG ; Jing LIU ; Cai-Xia LI
Progress in Biochemistry and Biophysics 2026;53(3):740-753
ObjectiveThis study aims to explore the potential of different orders of magnitude single-nucleotide polymorphism (SNP) locus combinations for predicting distant kinship relationships. A high-density SNP locus set was constructed, and a comprehensive assessment of its inference capability was conducted. MethodsFirstly, we selected three commercial chip panels, CGA (Chinese genotyping array, Illumina), GSA (Global screening array, Illumina), Affy (23MF_V2 high-density SNP array, Affymetrix) and merged them after quality control, forming a high-density SNP locus panel(1 180 k). Secondly, we selected 161 samples and collected their peripheral blood samples by using whole-genome sequencing technology. Within this sample population, the levels of kinship relationships fully covered the range from level 1 to level 9, and the number of kinship pairs at each level was consistently maintained at over 50 pairs. From 161 samples data of whole-genome sequencing, the 1 180 k locus set was extracted, which is referred to as the high-density SNP locus set in the following text. The kinship inference was conducted using the identity-by-descent (IBD) algorithm with the selected optimal parameters. To comprehensively evaluate the performance of the high-density SNP locus set in kinship inference, we compared it with the three commercial chip panels, the intersection of these three chip loci, and the control sets constructed by randomly reducing the number of the high-density SNP locus set. Based on the changes in the IBD lengths, as well as the dynamic trends in prediction accuracy, we conducted a scientific assessment of the kinship inference capability of the high-density SNP locus set. ResultsAfter screening, a set of 1 184 334 autosomal SNPs was obtained. During the process of screening the optimal IBD length threshold, the result revealed that 0 cM, 1 cM, and 2 cM all demonstrated good applicability. However, to avoid the issue of a large amount of redundant information caused by setting a too low IBD length threshold, this study ultimately selected 2 cM as the optimal threshold. Compared with the average results of three chip panels, the high-density SNP locus set increased the total IBD length and the average IBD length across levels 1-9; the accuracy of the confidence interval for level 8 was 70.97%, which represented a 3.50% improvement; the average confidence interval accuracy for levels 1-8 was 91.39%, representing a 1.00% increase; and the false negative rates at levels 8 and 9 were reduced by 2.42% and 6.76%, respectively. The system efficacy of the high-density SNP locus set for kinship inference of first to eighth degree relationships reached 98.91%. Through random reduction of the high-density SNP locus set results, it is found that increasing the number of SNPs with the panel, the detection efficiency of IBD length showed a significant upward trend. At the same time, the overall trend in the accuracy of kinship relationship prediction as well as the confidence interval accuracy also indicated that both metrics steadily increased with the addition of more loci. ConclusionThe results show that the high-density SNPs panel significantly enhances the efficacy of distant kinship inference, accurately covering kinship degrees, with the average confidence interval accuracy for first to eighth degree relationships stably above 90%. The study finds that increasing the number of SNPs panel can improve the ability to predict distant kinship.
2.Impacts of combined exposure to PM2.5 and cold spells on non-accidental mortality in Zigong City from 2016 to 2021
Yizhang XIA ; Wei HUANG ; Yang LI ; Yuquan CHEN ; Jie ZHANG ; Haili REN ; Qinglan HUANG ; Xi CHEN
Journal of Environmental and Occupational Medicine 2026;43(1):35-42
Background Amid global climate change, extreme environmental events are occurring more frequently, and it is imperative to investigate the impacts of combined exposure to fine particluate matter (PM2.5) and cold spells (CS) on population mortality. Objective To analyze the association between sequential extreme PM2.5-cold spell (EP-CS) events and non-accidental mortality among residents in Zigong City from 2016 to 2021. Methods Using time-series study design, meteorological data in Zigong were collected from the Zigong Meteorological Bureau for the period from January 1, 2016 to December 31, 2021, while daily non-accidental mortality data were obtained from the mortality surveillance system of the Zigong Center for Disease Control and Prevention. We adopted the percentile method to define extreme PM2.5 events and cold spells. We analyzed the risk effect of EP-CS events on non-accidental mortality among residents in this city and explored the potential amplification of damage resulting from different patterns of consecutive extreme events by using distributed lag nonlinear model (DLNM). We also conducted stratified analyses based on age, gender, education level, and marital status. Results The EP-CS events demonstrated a significant impact on non-accidental mortality among the local residents, exhibiting a certain lagged effect. The effects on the overall residents lasted from lag0 (RR=1.030, 95%CI: 1.013, 1.048) to lag14 (RR=1.035, 95%CI: 1.019, 1.052). Notably, the effects were more pronounced among females, individuals aged 65 years and above, and those who were never married, divorced, or widowed. Different patterns of EP-CS events all associated with adverse effects, the health impact of EP-CS events was significantly greater than that of individual PM2.5 pollution or CS events. The analysis of lag effects across different event patterns revealed that the overall effect of EP-CS events with shorter intervals (0–7 d) had a stronger effect compared to EP-CS with longer intervals (8–14 d), and the RR values of lag14 were 1.034 (95%CI: 1.015, 1.054) and 1.017 (95%CI: 1.007, 1.027), suggesting that the damaging effect of compound events occurring in the short term was more significant. Conclusion All sequential extreme EP-CS events have an impact on non-accidental mortality among residents in this city, with compound events demonstrating a stronger effect. Females, individuals aged ≥65 years, and those who were never married, divorced, or widowed are more sensitive to EP-CS events.
3.Discussion on the Mechanism of Ferroptosis in Diabetic Kidney Disease Based on the Theory of"Internal Heat Induced Disease"
Huixi CHEN ; Yaoxian WANG ; Huijuan ZHENG ; Weijing LIU ; Chenhui XIA ; Jiale ZHANG ; Jie LYU ; Weiwei SUN
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(3):24-28
Diabetic kidney disease(DKD)is one of the serious complications of diabetes.Ferroptosis causes pathological damage and is involved in the progression of DKD.How to inhibit ferroptosis and delay DKD is a new academic hotspot.The author's team further enriched and proposed the core pathogenesis theory of"internal heat induced disease"on the basis of the traditional DKD"yin deficiency and dryness-heat"theory,and explained the general development law of DKD.In this article,"internal heat"and"Zhengjia"in the theory of DKD"internal heat induced diseases"are used as the starting point to explore the relationship of the main pathological damage of ferroptosis such as activating inflammatory response,enhancing oxidative stress,promoting fibrosis and so on with the internal mechanism of the theory of"internal heat induced diseases",further explained the scientific connotation of DKD"internal heat induced diseases",in order to provide ideas and theoretical basis for the TCM prevention and treatment of DKD.
4.Discussion on the Mechanism of Ferroptosis in Diabetic Kidney Disease Based on the Theory of"Internal Heat Induced Disease"
Huixi CHEN ; Yaoxian WANG ; Huijuan ZHENG ; Weijing LIU ; Chenhui XIA ; Jiale ZHANG ; Jie LYU ; Weiwei SUN
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(3):24-28
Diabetic kidney disease(DKD)is one of the serious complications of diabetes.Ferroptosis causes pathological damage and is involved in the progression of DKD.How to inhibit ferroptosis and delay DKD is a new academic hotspot.The author's team further enriched and proposed the core pathogenesis theory of"internal heat induced disease"on the basis of the traditional DKD"yin deficiency and dryness-heat"theory,and explained the general development law of DKD.In this article,"internal heat"and"Zhengjia"in the theory of DKD"internal heat induced diseases"are used as the starting point to explore the relationship of the main pathological damage of ferroptosis such as activating inflammatory response,enhancing oxidative stress,promoting fibrosis and so on with the internal mechanism of the theory of"internal heat induced diseases",further explained the scientific connotation of DKD"internal heat induced diseases",in order to provide ideas and theoretical basis for the TCM prevention and treatment of DKD.
5.Research on the effect of the constructed information management system based on React and Uni framework on the management for operation room
Donglin MEI ; Jie CHEN ; Pu GU ; Haijie DUAN ; Xia CHE ; Juan DU ; Guangjing HUANG
China Medical Equipment 2025;22(5):133-136,165
Objective:To construct an information management system based on the back-end framework of React componentization and front-end framework of Uni scalable enterprise,so as to explore its application effect in management for operation room.Methods:React was used as the backend framework to construct JavaScript program code library of user interface,and all front-end applications that adopted Uni as the development system of frontend framework were used to construct informatization management system based on React and Uni framework,so as to manage operation room of hospital.A total of 100 surgical equipment that were used in the operation room of Guizhou Provincial People's Hospital from January 2023 to December 2023 were selected.According to different management methods,the conventional management method was adopted to manage equipment during January and June 2023,while the management method of informatization management system(informatization management)based on React and Uni frameworks was adopted to manage these equipment during July and December 2023.The frequency of leaving operation room of nursing personnel due to non-nursing events,the timeliness rate of transporting surgical patients and incidence of adverse events of nursing,as well as implementation rates of"five confirmations"included confirmed equipment,confirmed staff,confirmed time,confirmed quality and confirmed quantity,between two kinds of management methods were compared.Results:In the 200 surgeries of adopting informatization management method,the frequency of leaving operation room of nursing personnel due to non-nursing events was 2.5%,which was lower than 7.5%of conventional management method,and the difference was statistically significant(x2=5.213,P<0.05).The implementation rate of the"five confirmations"for equipment was 100%,which was higher than that of conventional management methods,and the difference was statistically significant(x2=15.232,P<0.05).The timeliness rate of transporting surgical patients was 100%in 100 surgeries,which was higher than 85%of conventional management method,and the difference was significant(x2=15.136,P<0.05).The incidence of various kinds of adverse events of nursing in the operating room was 0 in 100 surgeries,which was lower than that of conventional management method,and the difference was statistically significant(x2=0.226,P<0.05).Conclusion:The informatization management system based on React and Uni framework can significantly reduce the frequency of leaving operation room of nursing personnel due to non-nursing events in operation room,and improve the work efficiency in operation room,and reduce the incidences of work errors and adverse events in management for surgery.
6.Expert Consensus on Combined Screening for Common Cancers(2025 Edition)
Kexin CHEN ; Wanqing CHEN ; Yubei HUANG ; Zhangyan LYU ; Fangfang SONG ; Changfa XIA ; Yongjie XU ; Lei YANG ; Chao SHENG ; Yacong ZHANG ; Peng WANG ; Yunmeng ZHANG ; Yuting JI ; Jingjing LI ; Wenxuan LI ; Jie WU ; Qianyun JIN ; Fengju SONG
China Cancer 2025;34(8):583-610
Malignant tumors(commonly referred to as cancer)represent a major global public health challenge and contribute significantly to the worldwide disease burden.Early screening plays a critical role in improving detection rates,enabling timely intervention,and enhancing pa-tient survival rates.However,current cancer screening guidelines primarily focus on site-specific screening,which may not fully address the need for comprehensive early detection.A scientifical-ly rational,multi-cancer screening approach offers several advantages:it optimizes the use of bio-logical samples,reduces time costs for participants,enhances the efficiency and comprehensive-ness of screening,and minimizes overall expenses.Such an approach also facilitates the rational allocation of healthcare resources,ultimately helping to reduce the societal burden of cancer.To address this need,the Cancer Epidemiology Committee of the Chinese Anti-Cancer Association has developed the Expert Consensus on Combined Screening for Common Cancers in China.This consensus integrates multidisciplinary expertise and synthesizes the latest domestic and interna-tional researches on cancer screening,early detection,and treatment for prevalent malignancies.Drawing upon China's unique demographic and healthcare context,as well as practical screening experiences,the consensus provides evidence-based recommendations on target populations,screening technologies,and procedural workflows for multi-cancer screening.These guidelines align with the principles and methodologies established by the World Health Organization(WHO),aiming to:enhance the effectiveness of combined cancer screening in China,improve early detec-tion rates,and provide a scientific foundation for national cancer prevention and control strategies.
7.Expert consensus on combined screening for common cancers(2025 edition)
Chen KEXIN ; Chen WANQING ; Huang YUBEI ; Lyu ZHANGYAN ; Song FANGFANG ; Xia CHANGFA ; Xu YONGJIE ; Yang LEI ; Sheng CHAO ; Zhang YACONG ; Wang PENG ; Zhang YUNMENG ; Ji YUTING ; Li JINGJING ; Li WENXUAN ; Wu JIE ; Jin QIANYUN ; Song FENGJU
Chinese Journal of Clinical Oncology 2025;52(14):703-726
Malignant tumors(commonly referred to as cancers)represent a major global public health challenge and contribute substan-tially to the global disease burden.Early screening plays a crucial role in improving detection rates,enabling timely intervention,and enhan-cing patient survival.However,current cancer screening guidelines primarily focus on site-specific screening,which may not fully address the need for comprehensive early detection.A scientifically rational,multi-cancer screening approach offers several advantages:it optimizes the use of biological samples,reduces the time burden for participants,enhances the efficiency and comprehensiveness of screening,and min-imizes overall expenses.Moreover,this approach facilitates rational allocation of healthcare resources,ultimately helping to reduce the soci-etal burden of cancer.To address gap,the Cancer Epidemiology Committee of the China Anti-Cancer Association has developed the Expert Consensus on Combined Screening for Common Cancers.This consensus integrates multidisciplinary expertise and synthesizes the latest do-mestic and international researches on cancer screening,early detection,and treatment of prevalent malignancies.Drawing upon China's unique demographic and healthcare context and practical screening experiences,the consensus provides evidence-based recommendations on target populations,screening technologies,and procedural workflows for multi-cancer screening.These guidelines align with the prin-ciples and methodologies established by the World Health Organization(WHO),aiming to enhance the effectiveness of combined cancer screening in China,improve early detection rates,and provide a scientific foundation for national cancer prevention and control strategies.
8.Research on immunoprotective effects of a tRNA thiouridylase TgMnmA deletion strain of Toxoplasma gondii
Yue SHI ; Yimin YANG ; Xueqiu CHEN ; Jie XIA ; Mingxiu ZHAO ; Chenqian YAO ; Ai-fang DU
Chinese Journal of Veterinary Science 2025;45(4):724-730
To evaluate the immunogenicity and immunoprotective effects of a tRNA thiouridylase TgMnmA deletion strain of Toxoplasma gondii(T.gondii)on ICR mice,we constructed a mouse model immunized with RH△MnmA.Mice were immunized with 10 RH△MnmA tachyzoites by in-traperitoneal injection.After 30 d,indirect ELISA was used to detect the specific IgG antibody and its subtypes of immunized mice.Spleen lymphocyte suspension was prepared,and the splenic lym-phocyte subsets were analyzed by flow cytometry.Moreover,the relative expression level of cyto-kine mRNA was detected by real-time fluorescence quantitative PCR.After 30 d of immunization,mice were intraperitoneally inoculated with RH△ku80 tachyzoites.At 5 d post infection,the para-site load in the ascites,heart,liver and brain of mice was measured,and the survival of mice within 30 d after infection was observed and recorded.The results showed that compared with the control PBS group,RH△MnmA immunized group produced higher level of IgG and IgG2a antibodies,higher mRNA relative expression level of cytokines IL-2,IL-4,IL-6,IL-10,IL-12 and IFN-γ,and the number of CD4+and CD8a+in spleen lymphocytes also increased significantly.Mean-while,for the attack of RH△ku80 strain,the immune group can effectively reduce the parasite load in the ascites and some tissues,inhibit the reproduction of parasites In vivo,and significantly improve the survival rate of mice.The results of this study showed that the TgMnmA deletion strain of T.gondii can induce strong humoral and cellular immune responses in mice,and provide good immune protection against the infection of RHΔku80 strain,which has the potential to be-come a potentially promising live attenuated vaccine candidate against T.gondii.
9.Abnormal T cell subsets of BTBR T+Itpr3tf autistic mice at different developmental stages
Chen SHEN ; Meng LI ; Zuqing NIE ; Zhiwei LI ; Jie WEN ; Juanjuan DU ; Xiuying KUI ; Jingrui YANG ; Xia CAO
Chinese Journal of Comparative Medicine 2025;35(3):30-39,47
Objective To investigate the expression of T cell subsets in the spleen of BTBR T+Itpr3tf autistic mouse at 4,8,and 12 weeks of age,and to determine the optimal age for studying the relationship between immune abnormalities and autism in BTBR autistic mice.Methods It randomly selected 5~6 male BTBR mouse at 4 weeks,8 weeks,and 12 weeks of age and C57BL/6J mouse of the same gender at corresponding ages for the three-box social interaction test,the self-grooming test,and the marble-burying test;Single cell suspensions were prepared from the spleens of mouse at 8 and 12 weeks of age,and flow cytometry was used to detect 8 subsets of T cells(TH 1,TH2,TH17,TC1,TC2,TC17,TFH,and Treg).Results Compared with C57BL/6J mouse of the same age,BTBR mouse at 4 weeks,8 weeks,and 12 weeks of age showed a decrease in social time(P<0.001),an increase in grooming time(P<0.01,P<0.001),and an increase in the number of marbles buried(P<0.01,P<0.001)in BTBR mouse at 8 weeks and 12 weeks of age.As well,the expression of TH 1(P<0.001),TH2(P<0.01),TC 1(P<0.05),TC2(P<0.001),and TFH(P<0.01)cells in 8-week-old BTBR mouse were significantly increased,while the expression of Treg(P<0.001)cells were significantly decreased;The expression of TH 1(P<0.01),TH2(P<0.01),TH 17(P<0.05),TC1(P<0.01),TC2(P<0.001),TC 17(P<0.01),and TFH(P<0.001)increased in 12-week-old BTBR mouse,while the expression of Treg(P<0.05)cells decreased.At different age stages(P<0.050)the ratio of TH 1/Treg and TC 1/Treg in 8-week-old BTBR mouse were significantly higher than those in 12 week old mouse,while the TC 17/Treg ratio decreased.Conclusions BTBR mouse at different developmental stages exhibit varying degrees of abnormal increase in Teff/Treg ratio.Based on result of behavioral test,it is recommended to use 8-week-old BTBR mice for research on autism and immune abnormalities.
10.Clinical observation of regional citrate anticoagulation in pediatric plasma exchange
Wei DANG ; Fan ZHANG ; Yunxia LI ; Jie CHEN ; Xia LIN ; Sufang ZHANG ; Weifeng LU
Chinese Journal of Emergency Medicine 2025;34(6):795-802
Objective:To evaluate the efficacy and safety of regional citrate anticoagulation (RCA) during plasma exchange (PE) in pediatric patients.Methods:We conducted a retrospective analysis of 12 critically ill children admitted to the Pediatric Intensive Care Unit (PICU) of Jinan Children's Hospital, who underwent 28 PE sessions with RCA between December 2023 and August 2024. Clinical records were reviewed to assess bleeding events, extracorporeal circuit performance, and changes in arterial blood gas parameters, serum total calcium (Ca tot), and activated clotting time before and after treatment. Results:No patients exhibited signs of increased bleeding. In one case, the procedure was discontinued prematurely due to elevated venous pressure. A significant decrease in ionized calcium (Ca ion) was observed 0.5 hours post-treatment. At the end of PE, pH, HCO 3?, base excess (BE), lactate, PaCO 2, Ca tot, and Na + levels increased, while K + and Ca ion levels decreased, with all changes being statistically significant. Four hours post-treatment, pH, HCO 3?, BE, PaCO 2, and Na + remained elevated, whereas Ca ion, lactate, and K + returned to baseline. By 12–15 hours post-treatment, all parameters—including pH, HCO 3?, BE, PaCO 2, Na +, K +, Ca ion, and lactate—had normalized, showing no significant differences from pre-treatment levels. Conclusions:RCA provides effective extracorporeal anticoagulation during pediatric PE without increasing bleeding risk. However, metabolic complications—primarily metabolic alkalosis—are common. These disturbances typically resolve spontaneously and do not lead to severe adverse events. While no ideal anticoagulant for PE has yet been established, RCA remains a safe and effective option, particularly for pediatric patients at higher risk of bleeding.

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