1.Assessing High-density Y-SNP Panels for Paternal Haplogroup Assignment in Forensic Practice
De-Qin ZHANG ; Chun-Nian WANG ; Lin-Lin LOU ; Meng NI ; Jing GAO ; Jiang HUANG ; Li JIANG
Progress in Biochemistry and Biophysics 2026;53(2):458-469
ObjectiveThe accuracy of Y-chromosome haplogroup assignment is crucial for tracing paternal lineage in male samples. With the advancement of high-throughput sequencing technologies, high-density Y-SNP genotyping from whole-genome or array-based data has become a standard method for determiningY-chromosome haplogroups. This study systematically evaluated the performance of 4 commonly used high-density SNP genotyping systems—namely, the Global Screening Array (GSA), Chinese Genotyping Array (CGA), Affymetrix array, and the 1240K capture panel—for haplogroup assignment. This work provides a reference for data comparison across different systems. MethodsWe extracted genotype data for the 4 Y-SNP panels from 30× whole-genome sequencing (WGS) data of 1 590 male samples from the 1000 Genomes Project. Additionally, GSA array genotype data from 384 relative pairs (spanning 1st- to 12th-degree relationships) from 109 Chinese Han families were collected. Haplogroup assignment was performed using Y-LineageTracker v1.3.0 software. We assessed the concordance and resolution of haplogroup assignments between the four Y-SNP panels and the WGS data. The consistency and resolution of haplogroup assignments were also evaluated for both the 1000 Genomes Project samples and the 109 family samples collected in this study. Furthermore, the impact of varying numbers of Y-SNPs on haplogroup assignment was examined. ResultsThe GSA and CGA panels demonstrated superior resolution and discrimination of haplogroup subclades compared with the other two panels. The haplogroup assignments from the GSA, CGA, and 1240K panels showed high concordance with WGS data, with consistency rates exceeding 88.70%, whereas the Affymetrix platform exhibited a significantly lower consistency rate of 61.89%. Specifically, the GSA and CGA panels consistently demonstrated superior performance compared with the other two panels in the assignment of haplogroups O-M175 and H-L901, achieving complete concordance (100%) for both haplogroups. In contrast, the Affymetrix panel erroneously assigned all individuals belonging to haplogroup O-M175 to haplogroup K2-M526. Furthermore, its accuracy for haplogroup H-L901 was exceedingly low, at merely 1.41%. This poor performance was characterized by the misassignment of 98.59% of H-L901 samples—specifically, 1.41% to J-M304 and a predominant 97.18% to F-M89. For haplogroup R-M207, all four panels exhibited uniformly high levels of consistency, with concordance values exceeding 94.00%. Notably, for haplogroup E-M96, the 1240K and Affymetrix panels outperformed the GSA and CGA panels in terms of concordance, representing the first instance in which these two panels surpassed the latter. Conversely, for haplogroups J-M304, Q-M242, and I-M170, all 4 panels showed relatively elevated misclassification rates, with the Affymetrix array demonstrating the poorest overall performance. None of the four panels showed any discordant haplogroup assignments among the familial relative pairs analyzed. A positive correlation was observed between the number of Y-SNPs (ranging from 1 000 to 10 000) and classification consistency; however, classification consistency plateaued when the number of Y-SNPs exceeded 10 000. Furthermore, a random sampling analysis conducted on the GSA and CGA panels demonstrated that the haplogroup misclassification rate exhibited negligible fluctuation across the Y-SNP range of 500 to 1 000. Conversely, a marked enhancement in classification consistency was observed as the number of markers increased from 1 000 to 5 000, ultimately reaching a plateau within the interval of 5 000 to 8 000 markers. ConclusionThese findings indicate that the GSA and CGA panels provide high resolution and concordance, delivering reliable Y-haplogroup assignment for forensic investigations.
2.Assessing High-density Y-SNP Panels for Paternal Haplogroup Assignment in Forensic Practice
De-Qin ZHANG ; Chun-Nian WANG ; Lin-Lin LOU ; Meng NI ; Jing GAO ; Jiang HUANG ; Li JIANG
Progress in Biochemistry and Biophysics 2026;53(2):458-469
ObjectiveThe accuracy of Y-chromosome haplogroup assignment is crucial for tracing paternal lineage in male samples. With the advancement of high-throughput sequencing technologies, high-density Y-SNP genotyping from whole-genome or array-based data has become a standard method for determiningY-chromosome haplogroups. This study systematically evaluated the performance of 4 commonly used high-density SNP genotyping systems—namely, the Global Screening Array (GSA), Chinese Genotyping Array (CGA), Affymetrix array, and the 1240K capture panel—for haplogroup assignment. This work provides a reference for data comparison across different systems. MethodsWe extracted genotype data for the 4 Y-SNP panels from 30× whole-genome sequencing (WGS) data of 1 590 male samples from the 1000 Genomes Project. Additionally, GSA array genotype data from 384 relative pairs (spanning 1st- to 12th-degree relationships) from 109 Chinese Han families were collected. Haplogroup assignment was performed using Y-LineageTracker v1.3.0 software. We assessed the concordance and resolution of haplogroup assignments between the four Y-SNP panels and the WGS data. The consistency and resolution of haplogroup assignments were also evaluated for both the 1000 Genomes Project samples and the 109 family samples collected in this study. Furthermore, the impact of varying numbers of Y-SNPs on haplogroup assignment was examined. ResultsThe GSA and CGA panels demonstrated superior resolution and discrimination of haplogroup subclades compared with the other two panels. The haplogroup assignments from the GSA, CGA, and 1240K panels showed high concordance with WGS data, with consistency rates exceeding 88.70%, whereas the Affymetrix platform exhibited a significantly lower consistency rate of 61.89%. Specifically, the GSA and CGA panels consistently demonstrated superior performance compared with the other two panels in the assignment of haplogroups O-M175 and H-L901, achieving complete concordance (100%) for both haplogroups. In contrast, the Affymetrix panel erroneously assigned all individuals belonging to haplogroup O-M175 to haplogroup K2-M526. Furthermore, its accuracy for haplogroup H-L901 was exceedingly low, at merely 1.41%. This poor performance was characterized by the misassignment of 98.59% of H-L901 samples—specifically, 1.41% to J-M304 and a predominant 97.18% to F-M89. For haplogroup R-M207, all four panels exhibited uniformly high levels of consistency, with concordance values exceeding 94.00%. Notably, for haplogroup E-M96, the 1240K and Affymetrix panels outperformed the GSA and CGA panels in terms of concordance, representing the first instance in which these two panels surpassed the latter. Conversely, for haplogroups J-M304, Q-M242, and I-M170, all 4 panels showed relatively elevated misclassification rates, with the Affymetrix array demonstrating the poorest overall performance. None of the four panels showed any discordant haplogroup assignments among the familial relative pairs analyzed. A positive correlation was observed between the number of Y-SNPs (ranging from 1 000 to 10 000) and classification consistency; however, classification consistency plateaued when the number of Y-SNPs exceeded 10 000. Furthermore, a random sampling analysis conducted on the GSA and CGA panels demonstrated that the haplogroup misclassification rate exhibited negligible fluctuation across the Y-SNP range of 500 to 1 000. Conversely, a marked enhancement in classification consistency was observed as the number of markers increased from 1 000 to 5 000, ultimately reaching a plateau within the interval of 5 000 to 8 000 markers. ConclusionThese findings indicate that the GSA and CGA panels provide high resolution and concordance, delivering reliable Y-haplogroup assignment for forensic investigations.
3.Overview of Diagnosis,Treatment and Mechanism Research of Functional Dyspepsia by Integrated Traditional Chinese and Western Medicine
Shengsheng ZHANG ; Zhaohong SHI ; Xiaofang LU ; Luqing ZHAO ; Danyan LI ; Shu ZHANG ; Lu ZHAO ; Yudi ZHUO ; Nian WANG ; Fan LIU ; Shuangyi LI ; Xudong TANG
Journal of Traditional Chinese Medicine 2026;67(4):397-403
Functional dyspepsia (FD) is a prioritized disease category where traditional Chinese medicine (TCM) demonstrates distinct therapeutic advantages. The current western medicine treatment for FD is mainly based on proton pump inhibitors and prokinetic agents, with digestive enzymes, probiotics and antidepressants serving as adjuvant medication, yet such therapies still have certain limitations. TCM treatment for FD includes oral administration of Chinese herbal formulas and Chinese patent medicines, as well as external TCM therapies such as acupuncture and moxibustion, acupoint application, hot medicinal compress therapy, rubbing with ointment, medicinal iontophoresis, auricular acupoint therapy and tui na (Chinese medical massage). The combined treatment of FD with integrated TCM and western medicine can significantly improve clinical effectiveness and reduce adverse reactions. The common mechanisms underlying the therapeutic effects of both TCM and western medicine revolve around the core pathological processes of FD, mainly focusing on restoring gastrointestinal motility, regulating the levels of brain-gut peptides, modulating intestinal microecology, and ameliorating inflammatory status. The differential mechanisms lie in the precise targeting feature of western medicine versus the holistic-regulating and multi-target characteristics of TCM, and the two approaches exert a synergistic effect to enhance efficacy. This paper proposes to leverage the advantages of TCM in holistic regulation and the strengths of western medicine in targeted treatment, so as to provide personalized and comprehensive treatment regimens for FD patients.
4.Stem cell exosomes and biomaterial-assisted exosomes in bone defect repair
Nian LIU ; Xinyue DONG ; Songpeng WANG ; Yingjiang XU ; Xiaoming ZHANG
Chinese Journal of Tissue Engineering Research 2026;30(1):175-183
BACKGROUND:A large number of studies have demonstrated that stem cell exosomes play an important role in the repair of bone defects,either directly as carriers for loading other small molecules or surface modifications,or by binding to biomaterials to promote the repair and regeneration of bone tissue.OBJECTIVE:To summarize the osteogenic mechanisms of stem cell exosomes from different sources and their research progress in bone defect repair.METHODS:Chinese search terms"stem cell,exosome,bone,biomaterial,carrier,bioceramic,polymer,metal,hydrogel,engineered exosome"were used to search CNKI.English search terms"stem cell,exosome,bone defect,biomaterial,carrier,bioceramic,ploymer,metal material,hydrogel,engineering exosome"were used to search PubMed database.According to the inclusion and exclusion criteria,77 relevant articles were finally included for summary.RESULTS AND CONCLUSION:Exosomes from stem cells of different origins can promote osteoblast proliferation and differentiation,promote angiogenesis,and regulate osteoclast activity and macrophage phenotype to promote bone formation and bone mineralization.In addition,many achievements of exosomes in the field of bone defect repair were described from two aspects:biomaterial-assisted exosomes and engineered exosomes.However,the current research on stem cell exosomes in bone tissue engineering is still insufficient,and most of these studies are limited to small animal models,while the treatment of bone defects in large animals,including humans,will be more complex,which will also become a major challenge for the treatment of bone defects.This will also be a great challenge in the dissemination of exosome therapy.
5.Stem cell exosomes and biomaterial-assisted exosomes in bone defect repair
Nian LIU ; Xinyue DONG ; Songpeng WANG ; Yingjiang XU ; Xiaoming ZHANG
Chinese Journal of Tissue Engineering Research 2026;30(1):175-183
BACKGROUND:A large number of studies have demonstrated that stem cell exosomes play an important role in the repair of bone defects,either directly as carriers for loading other small molecules or surface modifications,or by binding to biomaterials to promote the repair and regeneration of bone tissue.OBJECTIVE:To summarize the osteogenic mechanisms of stem cell exosomes from different sources and their research progress in bone defect repair.METHODS:Chinese search terms"stem cell,exosome,bone,biomaterial,carrier,bioceramic,polymer,metal,hydrogel,engineered exosome"were used to search CNKI.English search terms"stem cell,exosome,bone defect,biomaterial,carrier,bioceramic,ploymer,metal material,hydrogel,engineering exosome"were used to search PubMed database.According to the inclusion and exclusion criteria,77 relevant articles were finally included for summary.RESULTS AND CONCLUSION:Exosomes from stem cells of different origins can promote osteoblast proliferation and differentiation,promote angiogenesis,and regulate osteoclast activity and macrophage phenotype to promote bone formation and bone mineralization.In addition,many achievements of exosomes in the field of bone defect repair were described from two aspects:biomaterial-assisted exosomes and engineered exosomes.However,the current research on stem cell exosomes in bone tissue engineering is still insufficient,and most of these studies are limited to small animal models,while the treatment of bone defects in large animals,including humans,will be more complex,which will also become a major challenge for the treatment of bone defects.This will also be a great challenge in the dissemination of exosome therapy.
6.Comparison of the control effect of spherical and toric orthokeratology on low-to-moderate myopia with astigmatism in adolescents
Pengying PU ; Yin YANG ; Huan ZHANG ; Huan LIU ; Kangqin DENG ; Nian DU
International Eye Science 2025;25(2):315-318
AIM: To compare the control effect of spherical and toric orthokeratology on low-to-moderate myopia with astigmatism(-1.00--1.50 DC)in adolescents.METHODS: The clinical data of 119 cases(119 eyes)of low-to-moderate myopia with astigmatism(-1.00--1.50 DC)adolescents who were treated and fitted with orthokeratology in the ophthalmology department of Sichuan Provincial People's Hospital from June 2021 to January 2022 were retrospectively analyzed. They were divided into spherical group, with 65 cases(65 eyes), and toric group, with 54 cases(54 eyes)according to the type of orthokeratology. The changes of uncorrected visual acuity(UCVA), axial length and corneal astigmatism before and after wearing lenses were recorded to evaluate the therapeutic effect.RESULTS: The UCVA of both the groups significantly improved at 1 and 2 a after wearing lenses(all P<0.01); corneal astigmatism decreased, but there was no significant difference(all P>0.05); the axial length was longer than that before wearing lenses(P<0.01). There were no statistical significant differences in the UCVA and corneal astigmatism between the spherical group and the toric group(Fintergroup=0.829,Pintergroup=0.364; Fintergroup=0.997,Pintergroup=0.320); and there were no statistical significant differences in the axial length growth between the spherical group and the toric group after wearing lenses for 1 a(0.18±0.11 mm vs 0.17±0.14 mm), and 2 a(0.17±0.10 mm vs 0.16±0.10 mm; all P>0.05).CONCLUSION: Both orthokeratology lenses can improve the UCVA, reduce corneal astigmatism, and delay axial length growth of adolescents with low-to-moderate myopia with astigmatism(-1.00--1.50 DC), and there are no significant differences in the control effect of spherical design orthokeratology and the toric design orthokeratology on myopia.
7.Epidemic characteristics and temporal-spatial trends of human anthrax in Shaanxi Province from 1955 to 2024
Guojing YANG ; Shu WANG ; Xinxin LI ; Mengyan ZHANG ; Yunpeng NIAN
Chinese Journal of Endemiology 2025;44(10):809-814
Objective:To learn about the epidemic characteristics and temporal-spatial trends of human anthrax in Shaanxi Province, and to provide a theoretical basis for prevention and control of anthrax.Methods:The epidemic data of human anthrax in Shaanxi Province from 1955 to 2024 were collected for descriptive epidemiological analysis. Joinpoint regression model was used to analyze the trend of anthrax incidence rate. The trend at all times and different intervals were estimated by average annual percent change (AAPC) and annual percent change (APC), respectively. Based on the number of human anthrax cases in each county (district) of Shaanxi Province from 1980 to 2024, datasets were constructed in segments every five years for global and local spatial autocorrelation analysis.Results:From 1955 to 2024, a total of 3 900 cases of human anthrax were reported in Shaanxi Province, with 124 deaths. The average annual incidence rate was 0.18/100 000 and the fatality rate was 3.18%. The incidence rate of human anthrax generally showed a downward trend (AAPC = - 3.21, t = - 1.99, P = 0.044), with the fastest decline rate from 1977 to 1993 (APC = - 15.24, t = - 4.08, P < 0.001). A temporal and regional distribution analysis was conducted on 484 human anthrax cases in Shaanxi Province from 1980 to 2024. The peak period of incidence was from July to September, accounting for 52.27% (253/484). The cities with a relatively high number of reported cases were Weinan City (201 cases), Xianyang City (161 cases), and Xi'an City (77 cases), accounting for a total of 90.70% (439/484). A population distribution analysis was conducted on 93 human anthrax cases in Shaanxi Province from 2005 to 2024, with 73 males (78.49%) and 20 females (21.51%), resulting in a male to female ratio of 3.65 ∶ 1.00. The age range was 13 to 79 years old, with a median of 44 years old. The age group of 35 to 59 years old had a higher case of the disease, accounting for 65.59% (61/93). Farmers were the main occupation, accounting for 87.10% (81/93). The shortest time interval between onset and diagnosis of 93 human anthrax cases was 0 days, the longest was 47 days, and the median was 5 days. The results of global spatial autocorrelation analysis showed that there was spatial positive correlation in human anthrax cases from 1980 to 1984, 1985 to 1989, 2000 to 2004, and 2020 to 2024 (global Moran's I > 0, Z > 1.96, P < 0.05). The results of local spatial autocorrelation analysis showed that the high-high aggregation area of human anthrax cases was concentrated in the Guanzhong region. Conclusions:From 1955 to 2024, the incidence rate of human anthrax in Shaanxi Province generally shows a downward trend. The peak period of incidence is from July to September, and the affected populations are mainly middle-aged male farmers. Human anthrax cases from 1980 to 1984, 1985 to 1989, 2000 to 2004 and 2020 to 2024 show spatial clustering, with high-high clustering areas concentrated in the Guanzhong region.
8.Epidemic characteristics and spatial clustering analysis of visceral leishmaniasis in Shaanxi Province from 2012 to 2024
Luqian ZHANG ; Fengping WANG ; Lin MA ; Shengzhen LI ; Yunpeng NIAN ; Shaoqi NING ; Shu WANG
Chinese Journal of Endemiology 2025;44(10):815-820
Objective:To analyze the epidemic characteristics and trends of visceral leishmaniasis (VL) in Shaanxi Province, and provide a basis for formulating control strategies.Methods:The information on VL cases in Shaanxi Province from January 2012 to December 2024 were obtained from the Shaanxi Provincial Infectious Disease Reporting Management System, and demographic data were collected from the Shaanxi Statistical Yearbook. Descriptive epidemiological method was used to analyze the prevalence and the distribution by the three dimensions (time, region, and population). Joinpoint 4.9.1.0 software and Geoda 1.6 software were used for regression analysis and spatial clustering analysis, respectively. SuperMap 8C software was used for visualization.Results:From January 2012 to December 2024, a total of 304 cases of VL were reported in Shaanxi Province, with an annual incidence rate of 0.06/100 000. VL cases occurred in all months of the year in Shaanxi Province with no significant seasonality, yet the onset was predominantly concentrated from April to August(52.30%, 159/304). The majority of cases were male (61.51%, 187/304), aged 5 months to 4 years (17.11%, 52/304), and farmers (67.11%, 204/304). A total of 54 districts (counties, cities) of 10 cities in the province had reported cases, mainly concentrated in Weinan City (49.34%, 150/304). Joinpoint regression analysis revealed a significant overall upward trend in the VL incidence rate in Shaanxi Province from 2012 to 2024 [average annual percent change (AAPC) = 12.60%, 95% confidence interval ( CI): 6.01% - 19.62%, t = 3.95, P < 0.001]. The year 2020 was identified as a turning point in the trend. The incidence rate showed a rapid upward trend from 2012 to 2020 [annual percent change (APC) = 23.75%, 95% CI: 13.33% - 35.12%, t = 5.62, P < 0.001]. Global spatial autocorrelation analysis indicated significant positive spatial autocorrelation in VL incidence in 2012, 2014, 2015, 2018, and 2022 (Moran's I > 0, Z > 1.96, P < 0.05). Local spatial autocorrelation analysis identified 12 "high-high" clustering areas from 2012 to 2024, mainly located in Shangluo City in southern Shaanxi Province, and Weinan City and Yan'an City in northern Shaanxi Province. Conclusions:From 2012 to 2024, VL cases in Shaanxi Province are predominantly male farmers. The incidence of VL shows an overall upward trend, with significant spatial clustering. The prevention and control situation is severe. It is imperative to strengthen control measures, including vector disinfection and health education, to effectively control the spread and transmission of VL.
9.Expert consensus on the management of mini-midline catheters
Xing LI ; Chunyan LI ; Fengni LI ; Lei WANG ; Fang ZHU ; Jiarui CHEN ; Qi XIA ; Nian YAO ; Jinghui ZHANG
Chinese Journal of Nursing 2025;60(13):1548-1553
Objective To establish an expert consensus on the management of mini-midline catheters(hereinafter referred to as the'consensus')to guide nurses in standardizing the insertion and maintenance of mini-midline catheters.Methods Evidence was systematically retrieved,scientifically evaluated,and synthesized using evidence-based methods to draft the initial version of the consensus.From December 2023 to July 2024,totally 2 rounds of expert correspondence and 2 rounds of expert panel discussions were conducted to revise the content,resulting in the final version.Results There were 17 experts from tertiary A general hospitals in Beijing,Shanghai,Hunan,Hubei,Sichuan,Jiangsu,Hainan,Guangxi Zhuang Autonomous Region,and Shandong participating in the consultation,with a 100%response rate.In the 2 rounds of expert correspondence,the authority coefficients were 0.947 and 0.962,respectively.The mean importance scores of all items exceeded 4.00 points.The coefficients of variation(CV)were 0-0.32(first round)and 0-0.15(second round).Kendall's concordance coefficients were 0.097 and 0.101(both P<0.001).The consensus covers 11 sections,including definition,indications,contraindications,qualification training,pre-insertion preparation,catheter insertion,catheter use,catheter maintenance,catheter removal,prevention and management of common complications,and health education.Conclusion The Consensus demonstrates scientific rigor and comprehensively addresses key procedures before,during,and after the insertion of mini-midline catheters,providing actionable guidance for nurses in catheter insertion and maintenance.
10.Government-led diabetes prevention and control practices in Yunnan Province
Yushan XU ; Yan JIANG ; Li SHI ; Yaxian SONG ; Wenhua ZHANG ; Xin NIAN
Journal of Chinese Physician 2025;27(3):350-352
Diabetes is one of the major chronic non-communicable diseases in China. This article discusses the progress of diabetes prevention and control under the leadership of the government and how to integrate the National Diabetes Prevention and Control Center (DPCC) into the work of primary medical and health institutions in Yunnan Province, providing reference and experience for diabetes prevention and control efforts in the central and western regions of China.

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