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.The epidemiological characteristics and spatial aggregation of typhus in Shaanxi Province from 2005 to 2023
Lu-qian ZHANG ; Shao-qi NING ; Yun-peng NIAN ; Shu WANG ; Xin-xin LI
Acta Parasitologica et Medica Entomologica Sinica 2026;33(1):19-24
Objective To investigate the epidemiological characteristics and changing trend of typhus in Shaanxi Province from 2005 to 2023 to provide a scientific basis for its prevention and control. Methods Excel 2007, SPSS 25.0, Joinpoint 4.9.1.0, and Geoda 1.6 were used for data collection and statistical analysis. Super Map was used for data visualization to describe the changing characteristics of the disease. Results A total of 394 typhus cases were reported in Shaanxi Province from 2005 to 2023. The average annual incidence of typhus was 0.054/100 000, showing a dynamic fluctuation trend(AAPC=-3.3, t=-0.3, P>0.05). The cases were mainly concentrated in Baoji, Hanzhong and Xi′an, accounting for 78.68%. The incidence peak was from May to October, accounting for 64.21% of annual incidence. The epidemic season was from May to October and December. The incidence of the disease was concentrated in the 40-69 age group, accounting for 58.88%, and the sex was 1.07:1. The main occupation was farmers, accounting for 72.08%. The median time from onset to diagnosis was 7 days. Global spatial autocorrelation analysis showed that there were significant spatial autocorrelations in 11 years from 2005 to 2023(P<0.05). Local spatial autocorrelation analysis detected a total of 43“high-high”clustering areas, mainly concentrated in Baoji City. Conclusions The overall incidence of typhus in Shaanxi Province showed a dynamic fluctuation trend, with notable seasonal and regional aggregation. The incidence of typhus was higher in middle-aged and elderly people in rural areas. Surveillance should be strengthened in typhus endemic areas in summer and autumn, and health education should be conducted for key population to form good health habits and reduce the incidence of typhus.
5.Study on quality standards of Liuwei Runfu oil recipe
Yue HU ; Yi WANG ; Minghua MA ; Fulun LI ; Hua NIAN ; Jianyong ZHU
Journal of Pharmaceutical Practice and Service 2026;44(7):353-357
Objective To establish a standardized quality criterion for the formula of the Liuwei Runfu oil recipe. Methods The qualitative identification of the components, such as Cannabis sativa, Ligusticum chuanxiong, Angelica sinensis, Coix lacryma-jobi, and Glycyrrhiza uralensis, was conducted by thin layer chromatography (TLC). The concentration of Senkyunolide A, ligustilide, and linoleic acid was determined by high-performance liquid chromatography (HPLC). Results The TLC identification results demonstrated excellent differentiation and high selectivity, without any disruption from the negative samples. The reference standard for Senkyunolide A exhibited excellent linearity in the range of 25 to 300 µg (r=0.9999), with an average recovery rate of 102.3% and a relative standard deviation (RSD) of 2.3%. The ligustilide reference standard exhibited strong linearity between the concentrations of 0.6875 and 8.25 µg (r=0.9993), with an average recovery rate of 100.1% and a relative standard deviation (RSD) of 2.8%. The linoleic acid reference standard demonstrated strong linear correlation within the range of 2.8125 to 33.75 µg (r=0.9990), with an average spiking recovery rate of 102.7% and a relative standard deviation (RSD) of 1.7%. Conclusion The established method with strong specificity was simple,accurate,reliable,which coulod provide a reference for the quality control of the Liuwei Runfu oil recipe.
6.Challenges, countermeasures, and key points of ethics review in investigator-initiated clinical trials of unlisted products
Honglei NIAN ; Jihong LI ; Jiyin ZHOU
Chinese Medical Ethics 2025;38(1):31-39
Investigator-initiated clinical trials (IIT) are an important part of scientific and technological activities involving human study participants. Among them, high-quality IIT can be used to support the marketing and registration application of drugs, medical devices, and other products when conditions permit. Currently, there is a huge gap between IIT and industry-initiated clinical trials. The use of unlisted products in IIT has problems, such as lack of regulatory support, insufficient research funding support, the need to improve the ability of clinical research management departments, the weakness of professional clinical research teams, and the difficulty of ethics review to match the demands. The challenges could be addressed by improving regulations and conducting pilot trials on a small scale, guaranteeing adequate research funding, strengthening the construction of clinical research management systems, building professional clinical research teams, ensuring the quality of ethical reviews and strict follow-up reviews, shifting from ethical reviews to a system for protecting research participants, and reinforcing training for researchers. Ethics committees should strictly review key points, such as the risk-benefit ratio, informed consent, research funding, compensation for damages, qualifications and equipment of research team members, and management of conflict of interest.
7.Application of intracardiac echocardiography combined with total three-dimensional technique in zero-fluoroscopy individualized transseptal puncture
Bo WEI ; Zhiyong LI ; Li WANG ; Wen GOU ; Ting SU ; Haitao ZHANG ; Qin LAI ; Ronghui YU ; Nian LIU
Journal of Chongqing Medical University 2025;50(3):359-366
Objective:To investigate the feasibility and safety of intracardiac echocardiography(ICE)combined with total three-dimensional(T3D)technique in zero-fluoroscopy individualized transseptal puncture.Methods:A total of 112 patients with atrial fibrillation who underwent radiofrequency ablation in Yongchuan Hospital Affiliated to Chongqing Medical University from April 2021 to March 2024 were enrolled,and according to the method for transseptal puncture,they were randomly divided into ICE+T3D group with 56 patients and ICE group with 56 patients.The two groups were analyzed in terms of baseline data,time to atrial reconstruc-tion,time to coronary sinus electrode placement,frequency of ICE probe adjustment during transseptal puncture,duration of transsep-tal puncture,pretreatment time before ablation,incidence rate of complications,and the duration and dosage of X-ray exposure.Results:There were no significant differences in baseline data between the two groups.Compared with the ICE group,the ICE+T3D group had a significantly lower frequency of ICE probe adjustment during transseptal puncture(1.70±0.63 vs.5.34±1.71,P<0.001)and the duration of transseptal puncture(3.66±1.09 min vs.4.90±1.92 min,P<0.001).Compared with the ICE group,the ICE+T3D group had significantly longer time to atrial reconstruction(22.44±3.13 min vs.12.34±2.12 min,P<0.001)and pretreatment time be-fore ablation(49.41±3.52 min vs.37.65±4.04 min,P<0.001).In the ICE+T3D group,43(76.8%)patients achieved zero radiation during pretreatment before ablation,and 13 patients received X-ray due to the difficulty in catheter placement;compared with the ICE group,the ICE+T3D group had a significantly shorter duration of X-ray exposure(1.68±0.72 min vs.3.14±1.95 min,P=0.010)and a significantly lower dosage of X-ray exposure(6.28±2.78 mGy vs.23.85±21.32 mGy,P=0.004).During the stage of transseptal punc-ture,all patients in the ICE+T3D group achieved zero radiation,while 45 patients(80.4%)in the ICE patients received X-ray.In terms of complications,there were no life-threatening complications such as cardiac tamponade,perforation of the aorta by mistake,and embolization in either group,while there was one case(1.8%)of vascular complications in each group.Conclusions:ICE combined with T3D after integration and improvement is a safe and reliable procedure for zero-fluoroscopy individualized transseptal puncture.
8.Application effect of regional citrate anticoagulation in continuous blood purification treatment at different stages after severe burns
Hualing CHEN ; Ping WANG ; Nian LIU ; Liping YANG ; Ning LI ; Bo YOU
Chongqing Medicine 2025;54(6):1323-1328
Objective To investigate the efficacy and safety of regional citrate anticoagulation(RCA)in continuous blood purification(CBP)treatment during the shock and infection phases of severe burns.Methods A retrospective analysis was conducted on the clinical data of 64 patients who received RCA-CBP treatment at the Burns Reseaich Institute,the First Affiliated Hospital of Army Medical University from Jan-uary 2015 to January 2024.The patients were divided into the burn shock phase(burn duration<2 days,n=18)and the burn infection phase(burn duration≥2 days,n=46)according to the start time of CBP treat-ment.General datas,total body surface area burned(TBSA),abbreviated burn severity index(ABSI),hemato-crit(HCT)at the start of CBP treatment,platelet count(PLT),activated partial thromboplastin time(APTT),serum creatinine,urea nitrogen,total bilirubin,acute physiology and chronic health evaluation Ⅱ(APACHEⅡ)score,sequential organ failure assessment(SOFA)score,Child-Pugh score,filter usage time for each CBP treatment,the incidence of unplanned treatment termination,blood gas analysis,and adverse e-vents were compared between the two groups.Results Compared with the burn shock phase,the levels of HCT and PLT in the burn infection phase were lower,the levels of urea nitrogen and the incidences of shock,hyperlactatemia and hypoxemia were higher,the filter usage time was longer,and the incidence of unplanned treatment termination was lower,the differences were statistically significant(P<0.05).The results of mult-ivariate COX regression analysis showed that the burn shock phase was a protective factor for the filter usage time(P<0.05).Among the 64 patients,citrate accumulation occurred in 2 patients(3.1%),both of which were septic shock combined with hyperlactatemia during the burn infection stage.Patients with acid-base im-balance and electrolyte disorder were corrected after adjusting the treatment.There were 5 new bleeding e-vents,all of which were caused by the primary diseases.Conclusion RCA is safe and effective for CBP treat-ment in severe burned patients and can be used as a routine anticoagulant method.
9.Application of a novel portable endoscope in upper gastrointestinal examinations in primary medical units:an analysis of 532 cases
Chao XU ; Wenbin ZOU ; Jiulong ZHAO ; Ting ZHANG ; Nian HUANG ; Hao WU ; Cui LIU ; Wen HUANG ; Zhaoshen LI ; Zhuan LIAO
Academic Journal of Naval Medical University 2025;46(6):810-816
Objective To explore the application value of a novel portable endoscope to perform upper gastrointestinal tract examinations in primary medical units.Methods A total of 532 subjects receiving portable endoscope examination were enrolled for analysis.The primary outcome was the success rate of operation.The secondary outcomes were the operation time,examination results,polyp removal and biopsy pathology results,and the subjective evaluation.Results In 532 cases,2 were withdrawn midway after the endoscope was inserted into the esophagus due to the patients'inability to tolerate the examination.Additionally,6 cases did not undergo examination of the descending part of the duodenum because of serious reactions during the procedure.Ultimately,524 cases successfully completed the upper gastrointestinal examination,and the success rate was 98.5%.The average examination time was(4.7±1.8)min,and the average time for disposal sheath wearing and removing was(4.2±1.4)min.The most common lesions were chronic non-atrophic gastritis(85.1%,451/530),reflux esophagitis(14.7%,78/530)and bile reflux(14.0%,74/530).A total of 10 cases of polyp removal were completed,and the polyp removal rate was 71.4%(10/14).Biopsy pathological diagnosis was completed in 44 cases,and the biopsy rate was 8.3%(44/530).The main discomfort symptoms during the examination were nausea(53.6%,285/532),vomiting(51.1%,272/532),and sore throat(38.5%,205/532),the main discomfort symptoms after the examination were sore throat(27.8%,148/532),nausea(19.5%,104/532),and vomiting(14.7%,78/532).No serious adverse events such as gastrointestinal bleeding,perforation,cardiac or pulmonary complications occurred.Conclusion The novel portable endoscope can safely and effectively complete the diagnosis and treatment of upper gastrointestinal diseases in primary medical units,while saving the decontamination process.However,the incidence of discomfort is high during examinations.Further optimization of the operation methods is needed.
10.Detection of Heavy Metal Content in White Peony by Laser-Induced Breakdown Spectroscopy Combined with Semi-Supervised Metric Learning
Yan-Hong GU ; Fan-Ding LI ; Fu-Dong NIAN
Chinese Journal of Analytical Chemistry 2025;53(4):669-679
To address the economic challenge associated with acquiring labeled sample data for white paeony,a semi-supervised learning model based on metric learning and consistency constraints was proposed to predict the content of trace heavy metal pollutants Pb and Cd in white paeony.The model was comprised of two multi-task deep learning networks with the same structure but different parameters,namely the teacher model and the student model.The multi-task deep learning network utilized metric learning within the classification branch to ensure the clustering of different samples,thereby enhancing the predictive performance of the regression branch for heavy metal content in white peony samples.The student model effectively utilized unlabeled data by constraining the consistency of outputs between the teacher and student models.Experimental results showed that the proposed multi-task deep learning network combined with the regression subnetwork model significantly reduced the average relative errors of Pb and Cd in the test set to 7.01%and 8.16%when predicting trace heavy metal pollutants in paeony.Furthermore,after integrating the metric learning loss function-constrained and the consistency-constrained teacher-student semi-supervised learning model,the same samples exhibited clustering phenomena,with faster convergence speed and convergence values closer to 0 in the loss function,reducing the average relative errors of Pb and Cd in the test set to 3.32%and 4.77%.The above results indicated that the model proposed in this work could effectively enhance the accuracy and reliability of LIBS in quantitative analysis of trace heavy metal elements in paeony,strengthening the advantages of LIBS in practical applications for quality supervision in the traditional Chinese medicine market.


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