1.Introduction and enlightenment of the Recommendations and Expert Consensus for Plasma and Platelet Transfusion Strategies in Critically Ill Children Following Severe Trauma, Traumatic Brain Injury, and/or Intracranial Hemorrhage: From the Transfusion and Anemia Expertise Initiative-Control/Avoidance of Bleeding
Zhenzhen JIANG ; Rong GUI ; Rong HUANG ; Junhua ZHANG ; Jiaohui ZENG ; Hao TANG ; Zhi LIN ; Dan WAN ; Mingyi ZHAO ; Minghua YANG ; Lan GU ; Haiting LIU
Chinese Journal of Blood Transfusion 2026;39(2):285-293
Transfusion and Anemia Expertise Initiative-Control/Avoidance of Bleeding developed a strategy for platelet and plasma infusion management in critically ill children based on systematic reviews and consensus meetings of international multidisciplinary experts. One good practice statement and six expert consensus statements were proposed for plasma and platelet transfusions in critically ill children following severe trauma, traumatic brain injury, and/or intracranial hemorrhage. This article introduces the specific methods and basis for the formation of recommendations in this part of the guide.
2.Mechanistic Study on Tougu Xiaotong Capsules in Regulating PANoptosis to Delay Degeneration of Chondrocytes in Knee Osteoarthritis
Jinxia YE ; Yixin LIN ; Xiaoqing LEI ; Yanfeng HUANG ; Changlong FU ; Desen LI ; Wenyi WANG ; Lan WANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(8):149-161
ObjectiveTo investigate the effect of Tougu Xiaotong capsules (TGXTC) on the regulation of chondrocyte PANoptosis, delay of chondrocyte degeneration, and improvement of the symptoms in knee osteoarthritis (KOA). MethodsIn vivo experiments: 50 male C57BL/6 mice were randomly assigned into five groups (n=10 per group): sham operation group, model group, low-dose TGXTC group (7.2 g·kg-1), high-dose TGXTC group (14.4 g·kg-1), and diclofenac sodium group (0.05 g·kg-1). Except for the sham group, KOA models were established in all other groups using the modified Hulth method. Following successful model induction, the TGXTC groups received daily oral gavage of 7.2 or 14.4 g·kg-1 for 6 weeks, while the diclofenac sodium group received 0.05 g·kg-1 solution daily over the same duration. Model evaluation was performed using Lequesne MG score; micro-computed tomography (micro-CT) was used to scan the knee, hematoxylin-eosin (HE) staining and safranin O-fast green staining were used to observe the morphology of cartilage, transmission electron microscopy (TEM) was used to determine ultrastructural changes of PANoptosis. Multiple immunofluorescence (IF) co-localization assays was performed to detect the co-localization of cleaved Caspase-3, receptor-interacting protein 3 (RlPK3), and the N-terminal domain of gasdermin D (GSDMD-N) in cartilage tissue, while western blot was employed to detect the expression levels of cleaved Caspase-3, RIPK3, and GSDMD-N. In vitro experiments: The knee cartilages of 4-week-old SD rats were isolated, and a chondrocyte in vitro culture system was established through mechanical digestion with 0.2% type Ⅱ collagenase. Second-generation chondrocytes were divided into three groups: the control group, the model group (pretreated with 10 mg·L-1 lipopolysaccharide (LPS) for 24 h followed by treatment with 1 μmol·L-1 nigericin for 4 h), and the TGXTC treatment group (pretreated with 10 mg·L-1 LPS for 24 h, followed by exposure to 1 μmol·L-1 nigericin for 4 h and subsequently treated with 100 mg·L-1 TGXTC for an additional 24 h). The levels of reactive oxygen species (ROS), apoptosis, necroptosis, and pyroptosis of chondrocytes were evaluated via fluorescence microscopy following staining with ROS detection, AO/EB and YO-PRO-1/PI staining kits. Transmission electron microscopy was utilized to investigate the ultrastructural changes associated with PANoptosis in cartilage tissue of KOA mice. Inflammatory cytokine levels (IL-1β and IL-18) were measured using ELISA. Western blot was conducted to assess protein expressions related to PANoptosis, including cleaved Caspase-3, cleaved Caspase-8, RIPK3, ZBP1, GSDMD-N, and NLRP3. ResultsCompared with the sham group, the Lequesne MG scores were significantly up-regulated(P<0.01) in the model group, and the pathological changes of cartilage were significantly, with joint spaces narrower, osteophyte formation increased, secere abrasion of cartilage surface. Ultrastructural analysis revealed pronounced chondrocyte apoptosis, necroptosis, and pyroptosis, along with markedly elevated expression of cleaved Caspase-3, RlPK3, and GSDMD-N in cartilage tissue (P<0.01). In addition, The mean fluorescence intensities of ROS, orange-red fluorescence in AO/EB staining, green fluorescence and red fluorescence in YO-PRO-1/PI staining were increased of chondrocyte in the model group (P<0.01) . The levels of inflammatory factors IL-1β and IL-18 in the supernatant were increased (P<0.01). The expression of PANoptosis related proteins (cleaved Caspase-3, cleaved Caspase-8, RIPK3, ZBP1, GSDMD-N, and NLRP3) were also significantly upregulated(P<0.05). Compared to the model group, the TGXTC group demonstrated a significant improvement in various parameters of mice. These included a reduction in the Lequesne MG score, an increase in joint space, a decrease in osteophyte formation, diminished cartilage damage, reduced release of ROS, and alleviation of apoptotic, necroptotic, and pyroptotic processes in chondrocytes. Additionally, mitochondrial swelling and endoplasmic reticulum dilation were also mitigated. The levels of ROS as well as IL-1β and IL-18 were significantly decreased (P<0.05). Furthermore, the expression levels of proteins associated with PANoptosis in cartilage tissue showed marked reductions (P<0.05). Similar results were observed in chondrocytes: cleaved Caspase-3, cleaved Caspase-8, RIPK3, ZBP1, GSDMD-N, and NLRP3 exhibited significant decreases as well (P<0.05). ConclusionTGXTC may mitigate chondrocytes degeneration and alleviate KOA symptoms by reducing oxidative stress and suppressing the activation of PANoptosis pathways.
3.Mechanistic Study on Tougu Xiaotong Capsules in Regulating PANoptosis to Delay Degeneration of Chondrocytes in Knee Osteoarthritis
Jinxia YE ; Yixin LIN ; Xiaoqing LEI ; Yanfeng HUANG ; Changlong FU ; Desen LI ; Wenyi WANG ; Lan WANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(8):149-161
ObjectiveTo investigate the effect of Tougu Xiaotong capsules (TGXTC) on the regulation of chondrocyte PANoptosis, delay of chondrocyte degeneration, and improvement of the symptoms in knee osteoarthritis (KOA). MethodsIn vivo experiments: 50 male C57BL/6 mice were randomly assigned into five groups (n=10 per group): sham operation group, model group, low-dose TGXTC group (7.2 g·kg-1), high-dose TGXTC group (14.4 g·kg-1), and diclofenac sodium group (0.05 g·kg-1). Except for the sham group, KOA models were established in all other groups using the modified Hulth method. Following successful model induction, the TGXTC groups received daily oral gavage of 7.2 or 14.4 g·kg-1 for 6 weeks, while the diclofenac sodium group received 0.05 g·kg-1 solution daily over the same duration. Model evaluation was performed using Lequesne MG score; micro-computed tomography (micro-CT) was used to scan the knee, hematoxylin-eosin (HE) staining and safranin O-fast green staining were used to observe the morphology of cartilage, transmission electron microscopy (TEM) was used to determine ultrastructural changes of PANoptosis. Multiple immunofluorescence (IF) co-localization assays was performed to detect the co-localization of cleaved Caspase-3, receptor-interacting protein 3 (RlPK3), and the N-terminal domain of gasdermin D (GSDMD-N) in cartilage tissue, while western blot was employed to detect the expression levels of cleaved Caspase-3, RIPK3, and GSDMD-N. In vitro experiments: The knee cartilages of 4-week-old SD rats were isolated, and a chondrocyte in vitro culture system was established through mechanical digestion with 0.2% type Ⅱ collagenase. Second-generation chondrocytes were divided into three groups: the control group, the model group (pretreated with 10 mg·L-1 lipopolysaccharide (LPS) for 24 h followed by treatment with 1 μmol·L-1 nigericin for 4 h), and the TGXTC treatment group (pretreated with 10 mg·L-1 LPS for 24 h, followed by exposure to 1 μmol·L-1 nigericin for 4 h and subsequently treated with 100 mg·L-1 TGXTC for an additional 24 h). The levels of reactive oxygen species (ROS), apoptosis, necroptosis, and pyroptosis of chondrocytes were evaluated via fluorescence microscopy following staining with ROS detection, AO/EB and YO-PRO-1/PI staining kits. Transmission electron microscopy was utilized to investigate the ultrastructural changes associated with PANoptosis in cartilage tissue of KOA mice. Inflammatory cytokine levels (IL-1β and IL-18) were measured using ELISA. Western blot was conducted to assess protein expressions related to PANoptosis, including cleaved Caspase-3, cleaved Caspase-8, RIPK3, ZBP1, GSDMD-N, and NLRP3. ResultsCompared with the sham group, the Lequesne MG scores were significantly up-regulated(P<0.01) in the model group, and the pathological changes of cartilage were significantly, with joint spaces narrower, osteophyte formation increased, secere abrasion of cartilage surface. Ultrastructural analysis revealed pronounced chondrocyte apoptosis, necroptosis, and pyroptosis, along with markedly elevated expression of cleaved Caspase-3, RlPK3, and GSDMD-N in cartilage tissue (P<0.01). In addition, The mean fluorescence intensities of ROS, orange-red fluorescence in AO/EB staining, green fluorescence and red fluorescence in YO-PRO-1/PI staining were increased of chondrocyte in the model group (P<0.01) . The levels of inflammatory factors IL-1β and IL-18 in the supernatant were increased (P<0.01). The expression of PANoptosis related proteins (cleaved Caspase-3, cleaved Caspase-8, RIPK3, ZBP1, GSDMD-N, and NLRP3) were also significantly upregulated(P<0.05). Compared to the model group, the TGXTC group demonstrated a significant improvement in various parameters of mice. These included a reduction in the Lequesne MG score, an increase in joint space, a decrease in osteophyte formation, diminished cartilage damage, reduced release of ROS, and alleviation of apoptotic, necroptotic, and pyroptotic processes in chondrocytes. Additionally, mitochondrial swelling and endoplasmic reticulum dilation were also mitigated. The levels of ROS as well as IL-1β and IL-18 were significantly decreased (P<0.05). Furthermore, the expression levels of proteins associated with PANoptosis in cartilage tissue showed marked reductions (P<0.05). Similar results were observed in chondrocytes: cleaved Caspase-3, cleaved Caspase-8, RIPK3, ZBP1, GSDMD-N, and NLRP3 exhibited significant decreases as well (P<0.05). ConclusionTGXTC may mitigate chondrocytes degeneration and alleviate KOA symptoms by reducing oxidative stress and suppressing the activation of PANoptosis pathways.
4.Regulatory Pathways of Cell Apoptosis in Diabetic Kidney Disease and Intervention by Traditional Chinese Medicine: A Review
Yunjie YANG ; Mingqian JIANG ; Chen QIU ; Yaqing RUAN ; Senlin CHEN ; Wenxin HUANG ; Hangbin ZHENG ; Yi WEI ; Pengfei LI ; Xueqin LIN ; Jing WU ; Shiwei RUAN ; Jianting WANG ; Yuliang QIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(9):294-306
Diabetic kidney disease(DKD) is a chronic kidney structural and functional disorder caused by diabetes. With the global prevalence of diabetes continuing to rise, DKD has gradually become a major cause of chronic kidney disease and end-stage renal disease(ESRD), posing a serious threat to patients' quality of life and long-term health outcomes. Studies have shown that apoptosis plays a pivotal role in the development and progression of DKD, with its mechanisms involving abnormal activation of multiple signaling pathways such as Toll-like receptor 4(TLR4)/nuclear transcription factor-κB(NF-κB)/B-cell lymphoma-2(Bcl-2)/cysteinyl aspartate-specific proteinase(Caspase)-3, protein kinase R-like endoplasmic reticulum kinase(PERK)/eukaryotic initiation factor 2α(eIF2α)/activating transcript factor 4(ATF4)/CCAAT enhancer-binding protein homologous protein(CHOP), phosphatidylinositol 3-kinase(PI3K)/protein kinase B(Akt)/glycogen synthase kinase-3β(GSK-3β), Janus kinase 2(JAK2)/signal transducer and activator of transcription 3(STAT3), adenosine monophosphate-activated protein kinase(AMPK)/mammalian target of rapamycin(mTOR) and silent information regulator 1(SIRT1)/tumor suppressor protein 53(p53), thereby accelerating renal pathological damage in DKD. Extensive evidence-based medical studies have confirmed that traditional Chinese medicine(TCM), leveraging its unique therapeutic advantages of multi-target, multi-component and multi-pathway approaches, has demonstrated remarkable efficacy and favorable safety profiles in treating DKD. Recent studies have demonstrated that active components of TCM can specifically target and modulate key effectors in apoptotic signaling pathways. Meanwhile, traditional compound formulations exert synergistic effects through multiple approaches such as replenishing deficiency and activating blood circulation, detoxifying and dredging collaterals, tonifying kidney essence, and removing stasis and purging turbidity, thereby comprehensively regulating critical pathological processes including endoplasmic reticulum stress and mitochondrial apoptosis pathways. This combined therapeutic approach of molecular targeting and holistic regulation provides novel strategies for delaying the progression of DKD. Based on this, this paper provides an in-depth analysis of key apoptotic signaling pathways and their regulatory mechanisms, while systematically summarizing recent research advances regarding the therapeutic effects of TCM active components, compound formulations, and proprietary Chinese medicines on DKD through modulation of these pathways, with particular emphasis on their underlying molecular mechanisms. These findings not only elucidate the modern scientific connotation and theoretical basis of TCM in treating DKD but also establish a solid theoretical and practical foundation for promoting the wider clinical application and further research of TCM in the field of DKD treatment.
5.Influencing factors for calcium salt deposition in patients with alveolar echinococcosis
Zitong XIONG ; Zhiyi LIN ; Yanxin HUANG ; Fuzhong FANG ; Zhengzhan WU ; Zirui XIN ; Chunxia HU ; Jiayu ZHOU ; Yuan YAO ; Hongwei ZHANG
Journal of Clinical Hepatology 2026;42(2):372-379
ObjectiveTo investigate the imaging features of calcium salt deposition and serological markers in patients with alveolar echinococcosis through a retrospective analysis, as well as independent risk factors for the degree of calcium salt deposition in lesions, and to provide a basis for assessing disease process. MethodsA retrospective analysis was performed for the imaging and clinical data of 107 patients with alveolar echinococcosis who were admitted to The First Affiliated Hospital of Shihezi University from December 2023 to June 2025, and according to the volume of calcium salt deposition, they were divided into non-deposition group with 16 patients, mild deposition group with 52 patients, moderate deposition group with 16 patients, and severe deposition group with 23 patients. A one-way analysis of variance or the Kruskal-Wallis H test was used for comparison of continuous data between groups, and the χ2 test or Fisher’s exact test was used for comparison of categorical data between groups. The four groups were further combined into the low deposition group (no/mild deposition) and the high deposition group (moderate/severe deposition). A binary logistic regression analysis was used to investigate the independent influencing factors for calcium salt deposition, and a predictive model was established. The receiver operating characteristic (ROC) curve was used to assess the predictive performance of the model, and the Bootstrap method was used for internal validation. ResultsThere were significant differences between the four groups in sex distribution, involvement of other sites, white blood cell count, lymphocyte percentage, fibrinogen, uric acid, sodium ion, chloride ion, and calcium ion (all P<0.05). The univariate analysis showed that there were significant differences between the four groups in sex, involvement of other sites, white blood cell count, lymphocyte percentage, fibrinogen, alanine aminotransferase, albumin, creatinine, uric acid, sodium ion, chloride ion, and calcium ion (all P<0.1). The multi-collinearity diagnosis showed that the VIF values for all continuous variables ranged from 1.104 to 1.760, suggesting that collinearity did not affect modeling. An ordinal logistic regression model was established based on sex, involvement of other sites, calcium ion, lymphocyte percentage, and uric acid. The multivariate analysis showed that lymphocyte percentage (odds ratio [OR]=1.106, 95% confidence interval [CI]: 1.041 — 1.174, P=0.001) and blood calcium level (OR=0.005, 95%CI: 0.000 —0.230, P=0.007) were independent influencing factors for the degree of calcium salt deposition. The regression equation was established as Logit(P)=8.231 + 0.100 × lymphocyte percentage -5.344 × calcium ion. The ROC curve analysis showed that the model had an area under the ROC curve of 0.716, with a Youden index of 0.353, a sensitivity of 1.000, and a specificity of 0.353. The Hosmer-Lemeshow test showed that the model had poor calibration (χ2=20.688, P=0.008). The Bootstrap method with 1000 repeated samples showed that the estimated values of lymphocyte percentage (OR=1.106, 95%CI: 1.049 — 1.186, P=0.002) and calcium ion (OR=0.005, 95%CI: 0.000 — 0.214, P=0.010) were consistent with the original model, and the confidence intervals did not include 1, which further supported the reliability of the model. ConclusionBoth lymphocyte percentage and blood calcium level are independent influencing factors for calcium salt deposition in alveolar echinococcosis, and the degree of calcium salt deposition in alveolar echinococcosis lesions increases with the reduction in blood calcium level and the increase in lymphocyte percentage.
6.Genetic disease diagnosis and treatment in Shanghai: Survey and countermeasures for clinical genetics specialist training.
Xiaoju HUANG ; Lin HAN ; Li CAO ; Taosheng HUANG ; Duan MA ; Jian WANG ; Wenjuan QIU ; Fanyi ZENG ; Luming SUN ; Chenming XU ; Songchang CHEN ; Xinyu KUANG ; Hong TIAN
Chinese Journal of Medical Genetics 2026;43(4):241-247
OBJECTIVE:
To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists.
METHODS:
By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements.
RESULTS:
The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development.
CONCLUSION
Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans
;
China
;
Surveys and Questionnaires
;
Genetic Diseases, Inborn/genetics*
;
Cross-Sectional Studies
;
Genetics, Medical/education*
;
Genetic Testing
7.Animal Models of Functional Constipation: A Review
Youcheng HE ; Shijin LIN ; Fengru JIANG ; Sihan LI ; Xiao KE ; Wenrong WANG ; Jianye YUAN ; Minghan HUANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):196-209
Functional constipation (FC) is a clinically common functional bowel disorder characterized by a protracted course and associations with various chronic disorders and psychological abnormalities. Although not life-threatening, FC significantly impairs patients' quality of life. FC subtypes include slow-transit constipation (STC), defecatory disorder (DD), and normal-transit constipation (NTC). The pathological mechanisms underlying FC have not been fully elucidated, and overall clinical efficacy remains unsatisfactory. Animal models of FC serve as essential tools for the study of disease mechanisms and the development of novel therapeutics. This article systematically reviews the current state of research on the animal models of FC and identifies that rodents, particularly rats and mice, are the most commonly used species. Dogs and pigs are also employed in complex intervention studies due to their physiological similarities to humans, though their use is limited by housing challenges and ethical considerations. Induction methods vary across different FC subtypes. STC models are primarily established with chemical agents such as loperamide or compound diphenoxylate. DD modeling often involves low-fiber diets combined with methylene blue injection or rectal narrowing. NTC modeling mainly relies on low-fiber dietary interventions. In addition, disease-syndrome combination models based on traditional Chinese medicine (TCM) theory have been developed, encompassing excess patterns such as heat accumulation, cold accumulation, and Qi stagnation, as well as deficiency patterns including Qi deficiency, blood deficiency, Yin deficiency, and Yang deficiency. These are achieved through an approach of disease model + syndrome induction, enabling the integration of mechanisms from both Western and TCM perspectives. Models are evaluated from two aspects: disease and syndrome manifestations (e.g., colonic transit, secretory function, and TCM syndrome indicators such as mental state and body weight) and disease mechanisms (e.g., enteric nervous system, interstitial cells of Cajal, smooth muscle cells, gut microbiota, and metabolites). However, current research still faces challenges such as poor consistency in some models, non-specific interference in mechanism interpretation, insufficient studies on NTC, and lack of TCM tongue and pulse diagnosis in evaluation. Future efforts should focus on optimizing model stability and specificity to provide a more reliable experimental basis for investigating the pathological mechanisms of FC and developing therapeutic agents.
8.Current status and associated factors of sleep problems among preschool children in Hainan Province
Chinese Journal of School Health 2026;47(4):517-521
Objective:
To understand the current status and associated factors of sleep problems among preschool children in Hainan Province, so as to provide scientific evidence for improving sleep health in this population.
Methods:
From January 2021 to June 2022, a total of 4 105 preschool children aged 3-6 years from 62 kindergartens in Hainan Province were selected using stratified cluster random sampling method. Demographic information and lifestyle habits were collected through the Hainan Province Child Growth and Development Survey Questionnaire. The Children s Sleep Habits Questionnaire (CSHQ) was employed to assess sleep status. Unconditional binary Logistic regression model was applied to investigate the associated factors of sleep problems among preschool children.
Results:
The overall CSHQ score for children was 58.03±18.84, with 80.95% of preschool children exhibiting sleep related issues. The top three most prevalent sleep problem domains were bedtime resistance (72.42%), sleep anxiety ( 54.88 %), and parasomnias (38.86%). Logistic regression analysis revealed that higher family annual income ( OR=0.60, 95%CI = 0.45-0.79), higher maternal education level ( OR=0.53, 95%CI =0.32-0.89), regular or daily vitamin D supplementation ( OR=0.77, 95%CI =0.60-0.99), and fully self initiated eating behavior ( OR=0.71, 95%CI =0.59-0.85) were negatively related with children s sleep problems; in addition, screen exposure ( OR=1.27, 95%CI =1.06-1.51) and picky eating ( OR= 1.47 , 95%CI =1.21-1.78) were positively related to children s sleep problems (all P <0.05).
Conclusion
The high detection rate of sleep problems among preschool children in Hainan Province is multifactorially associated with family environment, dietary habits, and lifestyle behaviors.
9.Time series study on influence of sulfur dioxide exposure on hospitalization of chronic obstructive pulmonary disease in Lanzhou from 2016 to 2020
Sheng LIN ; Boxi FENG ; Yongyue LI ; Yiwei HUANG ; Kai ZHENG ; Mingxuan LIU ; Yingying YANG ; Xingmin WEI ; Jianjun WU
Journal of Environmental and Occupational Medicine 2026;43(4):451-457
Background In 2021, chronic obstructive pulmonary disease (COPD) emerged as the forth leading cause of death in the world. However, the impact of air pollutants on COPD is still inconsistent across current studies. Objective To analyze the relationship between ambient sulfur dioxide (SO2) exposure and hospital admissions for COPD in Lanzhou, and to examine the modified effects of SO2 across different genders, age groups, and seasons. Methods A total of
10.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.


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