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.Progress of researches on toxoplasmosis control strategies based on the One Health concept
Huijun GAO ; Jing LI ; Pengyao LI ; Rui ZHUO ; Ze NI ; Bin ZHENG ; Shaohong LU
Chinese Journal of Schistosomiasis Control 2026;38(4):354-360
Toxoplasmosis, a zoonotic disease caused by the obligate intracellular parasite Toxoplasma gondii, is widely prevalent across the world. The life cycle of T. gondii involves definitive hosts (cats and felines), intermediate hosts (humans, livestock, and wild animals), and the environment (such as soil and water). The One Health concept brings together the health of humans, animals, and the environment, with aims to pursue the optimal health outcomes through coordinated management. Management of toxoplasmosis from a One Health perspective may provide key insights into formulation of interventions for toxoplasmosis control. This article reviews the complex biological characteristics and life cycle of T. gondii, as well as the importance of felines as definitive hosts in the transmission of toxoplasmosis, analyzes the epidemiology, ecological impact and economic burden of toxoplasmosis, and discusses the bottlenecks in diagnostic and monitoring systems, environmental management technologies, and One Health interdisciplinary collaboration. In addition, toxoplasmosis control strategies are proposed based on the One Health concept, covering public health interventions, management of animal sources, multi-sector collaboration, and development of novel vaccines. These strategies provide insights into interruption of toxoplasmosis transmission and maintenance of the global public health security.
4.Meteorological factor-driven prediction of high-use days of budesonide: construction and comparison of ensemble learning models
Qitao CHEN ; Yue ZHOU ; Xiaojun ZHANG ; Jingwen NI ; Guoqiang SUN ; Fenfei GAO ; Lizhen XIA ; Zihao LI
China Pharmacy 2025;36(21):2723-2726
OBJECTIVE To construct ensemble learning models for predicting high-use days of budesonide based on meteorological factors, thereby providing reference for hospital pharmacy management. METHODS Meteorological data for 2024 and outpatient budesonide usage data from the jurisdiction of Sanming Hospital of Integrated Traditional Chinese and Western Medicine were collected. High-use days were defined as the 75th percentile of outpatient budesonide usage, and a corresponding dataset was established. The prediction task was formulated as a classification problem, and three ensemble learning models were developed: Random Forest, Extreme Gradient Boosting (XGBoost), and Histogram-based Gradient Boosting Classifier. Model performance was evaluated using accuracy, precision, recall, F1-score, and log-loss. Model interpretability was analyzed using Shapley Additive Explanations (SHAP). RESULTS The Histogram-based Gradient Boosting Classifier achieved the best performance (accuracy=0.75, F1-score=0.48), followed by XGBoost (accuracy=0.74, F1-score=0.43) and Random Forest (accuracy=0.72, F1-score=0.22). SHAP results suggested that the prediction results of the last two models have the highest correction. CONCLUSIONS Ensemble learning models can effectively predict high-use days of budesonide, with the Histogram- based Gradient Boosting Classifier demonstrating the best predictive performance. Low temperature, high humidity, and low atmospheric pressure show significant positive impacts on the prediction of daily budesonide usage.
5.Research progress on pentacyclic triterpenoids in medicinal Ilex species and their pharmacological activities.
Yu-Ling LIU ; Yi-Ran WU ; Bao-Lin WANG ; Xiao-Wei SU ; Qiu-Juan CHEN ; Yi RAO ; Shi-Lin YANG ; Li-Ni HUO ; Hong-Wei GAO
China Journal of Chinese Materia Medica 2025;50(12):3252-3266
Traditional Chinese medicine(TCM) capable of clearing heat and removing toxin is most commonly used in clinical practice and has the effect of removing fire-heat and toxin. Studies have shown that most of the Ilex plants have the effect of clearing heat and removing toxin, among which the varieties of I. cornuta, I. pubescens, I. rotunda, I. latifolia, and I. chinensis are most widely used. These plants generally contain triterpenoids and their glycosides, alkaloids, flavonoids, phenylpropanoids, and other chemical components, especially pentacyclic triterpenoids. According to their skeletons, pentacyclic triterpenoids can be divided into the oleanane type, the ursane type, the lupinane type, etc. Among them, ursane-type components are the most abundant, and 136 species have been found so far. These components have been proved to have pharmacological effects such as anti-inflammatory, anti-tumor, hypolipidemic, anti-thrombosis, cardiomyocyte-protective, antibacterial, and hepatoprotective effects. Therefore, this paper systematically reviews the domestic and foreign literature on Ilex plants with a focus on the research progress on pentacyclic triterpenoids and their pharmacological activities, aiming to provide reference for the development of TCM resources with the effect of clearing heat and removing toxin.
Ilex/chemistry*
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Plants, Medicinal/chemistry*
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Pentacyclic Triterpenes/pharmacology*
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Medicine, Chinese Traditional
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Drugs, Chinese Herbal/pharmacology*
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Humans
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Animals
6.A study on clinical manifestations and correlation of symptoms of traditional Chinese medicine in emigrated plateau population
Tiantian XIA ; Wei ZHOU ; Li TONG ; Pan SHEN ; Ningning WANG ; Nan ZHANG ; Zhexin NI ; Yue GAO
Military Medical Sciences 2025;49(8):610-616
Objective To investigate the clinical manifestations of traditional Chinese medicine(TCM)and their associations with TCM constitutions in individuals who have migrated to plateau areas,and to provide a scientific basis for plateau health management.Methods Migrants living in areas above 3000 m were selected as research subjects.Data were collected by using TCM symptom assessment scales and constitution assessment scales.Descriptive statistical analysis was conducted to determine the incidence and severity of symptoms among individuals with different migration durations,and core symptoms were identified.Factor analysis was performed by using SPSS software to extract symptom clusters and explore the correlation between core symptoms and TCM constitutions.Results Among individuals who migrated to plateau areas,the incidence of discomfort symptoms was 83.44%.The five most common symptoms were dry skin(67.94%),forgetfulness(56.03%),dry mouth(52.06%),yellow urine(48.73%),and insomnia(47.14%).In the top 10 symptoms with the highest increase in incidence,yellow urine(33.51%)and forgetfulness(26.33%)were both present in the top 10 symptoms across different migration durations.Factor analysis extracted 5,2,4,and 6 symptom clusters from the overall population,individuals who migrated within 1 year,those who migrated for 1-2 years,and those who migrated over 2 years,respectively.Qi-deficiency constitution(QDC),blood stasis constitution(BSC),qi stagnation constitution(QSC),phlegm-dampness constitution(PDC),and dampness-heat constitution(DHC)were significantly positively correlated with forgetfulness.Conclusion Migrating to plateau areas can induce discomfort symptoms,and both the number and incidence of symptoms increase with longer migration durations.The number and incidence of high-frequency symptoms(incidence≥30%)increase with prolonged migration time.There are differences in the composition and severity of symptom clusters across different migration durations.QDC,BSC,QSC,PDC,and DHC are closely related to forgetfulness and can be considered risk constitutions for forgetfulness.Timely attention to changes in symptom clusters and constitutions can help prevent and mitigate the occurrence and development of symptoms.
7.Ameliorative effects of Compound Fufangteng Mixture on cyclophosphamide-induced immunosuppression in mice
Li-na LIU ; Yu-fang SHEN ; Qin-qin WANG ; Lin-yu XIAO ; Jing-yu LIU ; Jun-ni MO ; Ren-yi-kun YUAN ; Hong-wei GAO ; Jian XIAO
Chinese Traditional Patent Medicine 2025;47(10):3249-3256
AIM To investigate the ameliorative effects of Compound Fufangteng Mixture(CFM)on cyclophosphamide(CTX)-induced immunosuppression in mice.METHODS Forty-eight male C57BL/6J mice were randomly divided into the blank control group,the model group,the levamisole hydrochloride group(40 mg/kg)and the low-dose,medium-dose and high-dose CFM groups(3.75,7.5,10 g/kg),with 8 mice in each group,and given respective intervention orally once daily for 14 days.On the 5th to 7th day of administration,with the blank control group given normal saline intraperitoneally,the other groups underwent intraperitoneal CTX injections(80 mg/kg).24 hours after the last administration,organ indices of thymus and spleen were calculated;splenic histopathological alterations were assessed by HE staining;serum levels of IL-2,IL-6 and IgG were quantified using ELISA;splenic CD4+,CD8+T lymphocytes,alongside CD86+and CD206+macrophages populations were analyzed by flow cytometry;and splenic expression of CD4,CD8 and F4/80 was evaluated by immunohistochemical staining.RESULTS In CTX-treated mice,CFM administration mitigated body weight loss;enhanced thymus weight and thymic index;ameliorated splenic immune cell populations,elevated serum levels of cytokines IL-2,IL-6 and IgG in serum;and upregulated splenic levels of CD45+CD3+T lymphocytes and F4/80+CD11b+macrophages,alongside increasing the expression of CD4,CD8 and F4/80 surface markers.CONCLUSION CFM alleviates CTX-induced immunosuppression state in mice by modulating immune cells,restoring immune function and enhancing anti-inflammatory and tissue repair capabilities.
8.Dosimetric impact of deep inspiration breath-hold technique in postoperative radiotherapy for left-sided breast cancer
Duoduo WANG ; Han GAO ; Pudong QIAN ; Yutao LI ; Yingxin LIU ; Zixuan NI ; Yatian LIU
Chinese Journal of Radiation Oncology 2025;34(4):340-346
Objective:To investigate the dosimetric advantages of deep inspiration breath-hold (DIBH) technique in postoperative radiotherapy for left-sided breast cancer.Methods:A prospective study was conducted on patients requiring adjuvant radiotherapy after left-sided breast cancer surgery at Jiangsu Cancer Hospital from January 2018 to May 2023. CT simulation images were acquired under both free breathing (FB) and DIBH respiratory modes. Planning target volumes (PTV) and organs at risk (OAR) were delineated, and dosimetric parameters were compared between the two respiratory modes. Additionally, patients were grouped into subgroups [internal mammary lymph node irradiation (IMNI) vs. non-IMNI, breast-conserving surgery (BCS) followed by radiotherapy vs. modified radical mastectomy (MRM) followed by radiotherapy], and dosimetric differences among subgroups for both breathing modes were compared. The Velocity system was used to measure the minimum distances from the heart and left anterior descending coronary artery (LAD) to the PTV surface on CT images. These distances were defined as the heart-to-PTV and LAD-to-PTV distances. Pearson correlation analysis was performed to assess the relationships between heart D max and LAD D max, heart-to-PTV distance and heart D mean, and LAD-to-PTV distance and LAD D max under both respiratory modes. Results:A total of 132 patients were included. Compared to the FB, DIBH showed no significant difference in target dose distribution, but significantly reduced dose to OAR. Specifically, the heart D mean and D max decreased by 1.8 Gy and 8.1 Gy, respectively, and the LAD D max decreased by 7.9 Gy, and the affected lung V 5 Gy and V 20 Gy were reduced by 6.4% and 2.5%, respectively (all P<0.05). All subgroups benefited from DIBH, with greater decrease of dose to OAR in the IMNI subgroup (compared with the non-IMNI subgroup) and the subgroup of MRM followed by radiotherapy (compared with the BCS followed by radiotherapy group). Under both FB and DIBH modes, heart D max and LAD D max showed linear correlations ( r=0.62 and 0.84, respectively; both P<0.001), heart-to-PTV distance correlated with heart D mean ( r=-0.61 and -0.67, respectively; both P<0.001), and LAD-to-PTV distance correlated with LAD D max ( r=-0.58 and -0.63, respectively; both P<0.001). Conclusions:The DIBH technique can significantly reduce dose to the heart, LAD, and lungs in patients undergoing postoperative radiotherapy for left-sided breast cancer without compromising target dose. Patients receiving IMNI after left-sided breast cancer surgery benefit more from the DIBH technique.
9.Measurement and analysis of maxillofacial skeletal morphology based on the 3D model by Mimics soft-ware
Pengqi LI ; Qianwei NI ; Li MA ; JIGEER·SAIYILIHAN ; Ruizhe SUN ; Yinghui TAN ; Zhan GAO
Journal of Practical Stomatology 2025;41(5):685-691
Objective:To measure and analyse maxillofacial skeletal morphology based on the 3D model by Mimics and Matlab soft-ware.Methods:140 male volunteers aged 18-37 years,99 of Han,32 of Uygur and 9 of other natinalities were included.The values of maxillofacial skeletal morphology were measured by Mimics software combined with Matlab software after CT scanning.The data of skeletal morphologic features among skeletal classⅠ,Ⅱ and Ⅲ and among the ethnic groups were analysed with SPSS 26.0 software.Results:The distribution of skeletal class showed that there were 83 cases(59.3%)of class Ⅰ,41(29.3%)of class Ⅱ and 16(11%)of class Ⅲ.There were no significant differences on the age,height,nasal bone length,nasal bone depth,maxillary width,maxillary height,mandibular symphysis height,condylion distance and gonion distance among the 3 skeletal groups(P>0.05).Skeletal class Ⅱshowed a significant shorter mandibular ramus,mandibular body and entire mandibular length compared with class Ⅰ and class Ⅲ,while class Ⅱ had a significant longer palatal length and larger Me angle compared with class Ⅲ(P<0.05).Skeletal class Ⅲ showed no significance differences of all dimensions compared with class Ⅰ(P>0.05).The nasal bone depth of Han subjects was smaller than that of Uygur,while the length of the mandibular symphysis and the entire mandible of Han group were greater than that of Uygur group(P<0.05).No correlation was observed between age and all facial skeletal dimensions respectively(P>0.05).The ANB an-gle is negatively correlated with the mandibular body(r=-0.327)and mandibular length(r=-0.322)respectively.Conclusion:There was no significant difference in nasal bone,facial bone width and facial bone height among the 3 skeletal patterns.Class Ⅱhas a significant shorter mandibular ramus,mandibular body and entire mandibular length.Uygur young males have significantly greater nasal bone depth than Han.
10.Measurement and analysis of maxillofacial skeletal morphology based on the 3D model by Mimics soft-ware
Pengqi LI ; Qianwei NI ; Li MA ; JIGEER·SAIYILIHAN ; Ruizhe SUN ; Yinghui TAN ; Zhan GAO
Journal of Practical Stomatology 2025;41(5):685-691
Objective:To measure and analyse maxillofacial skeletal morphology based on the 3D model by Mimics and Matlab soft-ware.Methods:140 male volunteers aged 18-37 years,99 of Han,32 of Uygur and 9 of other natinalities were included.The values of maxillofacial skeletal morphology were measured by Mimics software combined with Matlab software after CT scanning.The data of skeletal morphologic features among skeletal classⅠ,Ⅱ and Ⅲ and among the ethnic groups were analysed with SPSS 26.0 software.Results:The distribution of skeletal class showed that there were 83 cases(59.3%)of class Ⅰ,41(29.3%)of class Ⅱ and 16(11%)of class Ⅲ.There were no significant differences on the age,height,nasal bone length,nasal bone depth,maxillary width,maxillary height,mandibular symphysis height,condylion distance and gonion distance among the 3 skeletal groups(P>0.05).Skeletal class Ⅱshowed a significant shorter mandibular ramus,mandibular body and entire mandibular length compared with class Ⅰ and class Ⅲ,while class Ⅱ had a significant longer palatal length and larger Me angle compared with class Ⅲ(P<0.05).Skeletal class Ⅲ showed no significance differences of all dimensions compared with class Ⅰ(P>0.05).The nasal bone depth of Han subjects was smaller than that of Uygur,while the length of the mandibular symphysis and the entire mandible of Han group were greater than that of Uygur group(P<0.05).No correlation was observed between age and all facial skeletal dimensions respectively(P>0.05).The ANB an-gle is negatively correlated with the mandibular body(r=-0.327)and mandibular length(r=-0.322)respectively.Conclusion:There was no significant difference in nasal bone,facial bone width and facial bone height among the 3 skeletal patterns.Class Ⅱhas a significant shorter mandibular ramus,mandibular body and entire mandibular length.Uygur young males have significantly greater nasal bone depth than Han.

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