1.Application of artificial intelligence-assisted chromosome karyotyping analysis in prenatal diagnosis of chromosomal mosaicism.
Ling ZHAO ; Shiwei SUN ; Qinghua ZHENG ; Qing YU ; Chongyang ZHU ; Ling LIU ; Yueli WU
Chinese Journal of Medical Genetics 2026;43(3):180-187
OBJECTIVE:
To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism.
METHODS:
A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01).
RESULTS:
No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360).
CONCLUSION
For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans
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Female
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Mosaicism
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Pregnancy
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Karyotyping/methods*
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Artificial Intelligence
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Prenatal Diagnosis/methods*
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Adult
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Retrospective Studies
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Chromosome Disorders/genetics*
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Amniocentesis
2.Mechanism of Bushen Kaixuan Tongluo Prescription in Improving Diabetic Nephropathy Based on cAMP Signaling Pathway
Miao XU ; Baosheng ZHAO ; You WANG ; Yuzhuo CHANG ; Zehao LIU ; Lingling QIN ; Haiyan WANG ; Ming GAO ; Cuiyan LYU ; Tonghua LIU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):87-96
ObjectiveTo investigate the molecular mechanism by which the Bushen Kaixuan Tongluo prescription exerts a renal protective effect in mice with diabetic kidney disease (DKD) by regulating the cyclic adenosine monophosphate (cAMP) signaling pathway. MethodsThirty specific pathogen-free (SPF) male db/db mice were adaptively fed for three weeks. Mice with a random tail vein blood glucose level ≥ 11.1 mmol·L-1 and urinary albumin-creatinine ratio (ACR) ≥ 30 mg·g-1 were considered successfully modeled. The successfully modeled mice were randomly divided into five groups with six mice in each group: the model group, the low-, medium-, and high-dose Bushen Kaixuan Tongluo prescription groups (administered at doses of 7, 14, 28 g·kg-1·d-1 respectively), and the positive drug irbesartan group (administered at a dose of 20 mg·kg-1·d-1). Additionally, six db/m mice were selected as the blank group. Mice in each group were given intragastric administration of the Bushen Kaixuan Tongluo prescription at the corresponding concentrations, irbesartan, or an equal volume of pure water, and the intervention lasted for 12 weeks. During the experiment, the general conditions, body weight changes, and renal function indicators of the mice were dynamically monitored. After the intervention, a blood glucose meter was used to measure the fasting blood glucose (FBG) of the mice. An automatic biochemical analyzer was employed to detect the levels of serum creatinine (SCr), blood urea nitrogen (BUN), urinary microalbumin (uALB), ACR, aspartate aminotransferase (AST), alanine aminotransferase (ALT), total cholesterol (TC), triglycerides (TG), leptin (LEP), glycosylated serum protein (GSP), and insulin (INS) in the mice. Renal tissues were collected for hematoxylin-eosin (HE) staining, periodic acid-Schiff (PAS) staining, and Masson's trichrome staining to observe the histopathological changes. Immunohistochemistry (IHC) was used to detect the expressions of protein kinase A (PKA) and cAMP response element-binding protein (CREB) in the mice. Western blot analysis was performed to determine the expression levels of PKA, phosphorylated protein kinase A (p-PKA), CREB, phosphorylated cAMP response element-binding protein (p-CREB), and B-cell lymphoma-2 (Bcl-2) proteins in the renal tissues of the mice. Real-time quantitative polymerase chain reaction (Real-time PCR) was used to detect the mRNA expression levels of PKA, CREB, and Bcl-2 in the renal tissues of the mice. ResultsCompared with the blank group, the mice in the model group showed listlessness, decreased activity, and a significant increase in body weight (P<0.01). Biochemical indicators revealed that the levels of BUN, uALB, ACR, AST, ALT, TC, TG, FBG, LEP, GSP, and INS were significantly increased (P<0.01), while SCr showed an increasing trend with no statistically significant difference. Compared with the model group, the mice in the Bushen Kaixuan Tongluo prescription intervention groups had improved general conditions and a decreasing trend in body weight. Biochemical indicators showed that the levels of BUN, uALB, ACR, TC, GSP, and INS were significantly decreased (P<0.05), while SCr, AST, ALT, TG, and LEP showed a decreasing trend with no statistically significant difference. Renal histopathological analysis showed that the model group exhibited typical DKD pathological features such as thickening of the glomerular basement membrane, expansion of the mesangial matrix, and deposition of collagen fibers in the renal tubulointerstitium, and all treatment groups could alleviate the above pathological damages. The IHC results showed that compared with the blank group, the expression levels of p-PKA and p-CREB in the renal tissues of the model group were significantly decreased (P<0.01). Compared with the model group, the expression level of p-PKA in the medium-dose Bushen Kaixuan Tongluo prescription group was significantly increased (P<0.01), while the expression level of p-CREB showed an increasing trend with no statistically significant difference. Western blot results showed that compared with the blank group, the expression levels of p-PKA/PKA, p-CREB/CREB, and Bcl-2 in the model group were significantly decreased (P<0.05). Compared with the model group, the expression levels of these proteins in the medium-dose Bushen Kaixuan Tongluo prescription group were significantly increased (P<0.01). Real-time PCR results showed that compared with the blank group, the mRNA expressions of PKA, CREB, and Bcl-2 in the model group were significantly down-regulated (P<0.05). Compared with the model group, the mRNA expressions of these genes in the medium-dose Bushen Kaixuan Tongluo prescription group were significantly up-regulated (P<0.05). ConclusionThe Bushen Kaixuan Tongluo prescription can improve the liver and kidney functions of db/db mice, correct lipid metabolism disorders and glucose metabolism imbalance. Its renal protective effect is associated with up-regulating the cAMP signaling pathway to improve renal fibrosis and reduce the level of oxidative stress, thereby protecting renal function.
3.Analysis on Characteristics and Prescriptions of Chinese Patent Medicines for Functional Diarrhea on Market
Shuangfei DENG ; Siyu LI ; Changyue SONG ; Caiyu LIU ; Daiyue DING ; Xiaohui SU ; Xiaoqin LUO ; Haiyu ZHAO ; Xiangying KONG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):261-268
ObjectiveThis study focused on the marketed Chinese patent medicines for the treatment of Functional Diarrhea (FDr) in China and their prescription characteristics, in order to provide support for the clinical application and research and development of anti-FDr Chinese patent medicines. MethodsCollect the information of Chinese patent medicines that have been marketed to treat FDr, use Microsoft Excel 2021 software to conduct preliminary data collation and statistical analysis, and use the ancient and modern medical record cloud platform (V2.3.9) to analyze the standardized Chinese patent medicine prescriptions from the aspects of drug nature and taste, medication characteristics and prescription rules. Results147 kinds of FDr Chinese patent medicines were included in this study. There are a total of 40 varieties of FDr Chinese patent medicines suitable for children; The distribution of dosage forms is mainly pills, tablets, and capsules. 110 prescriptions were screened, among which the proportion of Chinese patent medicines for the treatment of spleen deficiency syndrome was the highest; The top three drug use frequency were licorice, Atractylodes macrocephala, and Poria cocos; The medicinal properties are mainly warm and flat, and the medicinal taste is mostly pungent, sweet and bitter, and most of them belong to the two meridians of the spleen and stomach; The association rules analysis obtains 20 strong association pairing sets; Three drug combinations were obtained by cluster analysis. ConclusionFDr Chinese patent medicine shows unique value in clinical application, especially in the field of children. However, there are still problems such as strong professionalism in the indication expression of drug instructions, limited coverage of the medical insurance catalog, and lack of high-level evidence-based medicine and pharmacoeconomic evidence. To this end, in the future, efforts should be made to build a multi-level evidence-based evidence system, improve medication compliance, and deepen research on syndrome-based medication laws, so as to enhance the clinical application value and scientific connotation of FDr Chinese patent medicines.
4.Research Progress on Regulation of Relevant Pathways by Traditional Chinese Medicine for Prevention and Treatment of Parkinson's Disease
Zhonghao GUO ; Quan LI ; Pengyu PAN ; Tengyu ZHAO ; Zeyuan AN ; Yuan LIU ; Yanyan ZHOU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):333-342
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by motor impairments, with its pathological mechanisms involving multiple processes such as the degeneration of dopaminergic neurons and the abnormal aggregation of α-synuclein. Current Western medical treatments face challenges including diminished long-term efficacy and motor complications. In recent years, Traditional Chinese Medicine (TCM) has demonstrated advantages in the prevention and treatment of PD through its systematic regulatory capabilities, featuring multi-component, multi-target, and multi-pathway approaches.This article systematically reviews the roles of seven key signaling pathways-NF-κB, AMPK/mTOR, PI3K/Akt, MAPKs, Nrf2/ARE, Wnt/β-catenin, and BDNF/TrkB-in the pathological process of PD and the regulatory mechanisms of TCM. Research indicates that active ingredients of Chinese herbs and compound formulations can synergistically modulate these pathways, exerting comprehensive effects in inhibiting neuroinflammation, alleviating oxidative stress, promoting autophagy to clear abnormal proteins, and enhancing neurotrophic support. These signaling pathways form a complex regulatory network through crosstalk among key nodal molecules, constituting an intricate regulatory system in PD pathology. The multi-target intervention characteristics of TCM align well with this network-based regulatory requirement, achieving integrated anti-inflammatory, antioxidant, autophagy-regulating, and neurorestorative effects through synergistic multi-pathway modulation. This article systematically outlines the mechanisms of TCM in the coordinated regulation of multiple pathways, providing a theoretical basis for elucidating the pathological process of PD and the intervention mechanisms of TCM, while also offering new perspectives and directions for modern research on TCM in the prevention and treatment of PD.
5.Association between metabolic dysfunction associated steatotic liver disease and bone mineral density among children and adolescents
ZHAO Zengtong*,WANG Lan ,LIU Qin,WANG Mingming, LIU Junting
Chinese Journal of School Health 2026;47(4):470-474
Objective:
To investigate the association between metabolic dysfunction associated steatotic liver disease (MASLD) and bone mineral density among children and adolescents, so as to provide evidence for the early prevention and intervention of bone health in this population.
Methods:
In September 2022, a method combining convenience sampling with cluster sampling was used to select 5 089 children and adolescents aged 6-18 years in 9 schools from kindergarten to senior high school in Tongzhou District, Beijing, for physical measurements, ultrasound measurements, blood biochemical index testing, and questionnaire surveys. Participants were categorized into three groups: the normal control group ( n =1 515), the metabolic abnormality group (MA, n = 3 007 ), and the MASLD group ( n =567). Multivariable linear regression model was applied to examine the association between MASLD and bone speed of sound (SOS), while multivariable Logistic regression model was used to assess the association between MASLD and low bone mineral density. Subgroup analysis was conducted by sex and age groups.
Results:
Compared with the normal control group, the MASLD group showed significantly lower SOS values ( β =-6.31, 95% CI =-9.63 to -2.99), lower SOS Z scores ( β = -0.21, 95% CI =-0.32 to -0.10), and higher susceptibility to low bone mineral density( OR =1.56, 95% CI =1.25-1.96)(all P <0.05). No significant differences in SOS or odds of low bone density were observed between the MA and normal control groups (all P > 0.05). In sex stratified analyses, males with MASLD exhibited significantly lower SOS Z scores ( β =-0.35, 95% CI =-0.49 to -0.20 , P <0.05), whereas no significant difference was observed in females with MASLD ( β =-0.03, 95% CI =-0.21-0.15; P >0.05). When hepatic steatosis grade (0, 1, 2, and 3) was treated as a continuous variable, each one grade increase was associated with a 31% higher odds of low bone mineral density ( OR =1.31, 95% CI =1.13 to 1.53, P <0.05).
Conclusions
MASLD is significantly associated with low bone mineral density among children and adolescents, with a stronger association in males. Moreover, children and adolescents with hepatic steatosis have a higher risk of impaired bone health compared with those with metabolic abnormalities alone.
6.Polypeptide-based Nanocarriers for Oral Targeted Delivery of CAR Genes to Pancreatic Cancer
Feng XIN ; Jian REN ; Zhao-Zhen LI ; Quan FANG ; Rui-Jing LIANG ; Lan-Lan LIU ; Lin-Tao CAI
Progress in Biochemistry and Biophysics 2026;53(2):431-441
ObjectivePancreatic ductal adenocarcinoma (PDAC) exhibits a limited response to current treatments due to its dense fibrotic stroma and highly immunosuppressive tumor microenvironment. In recent years, advancements in cellular immunotherapy, particularly chimeric antigen receptor macrophage (CAR-M) therapy, have offered new hope for pancreatic cancer treatment. Although CAR-M therapy demonstrates dual potential in directly killing tumor cells and remodeling the immune microenvironment, it still faces challenges such as complex in vitro preparation processes and low in vivo targeting and delivery efficiency. Therefore, developing strategies for efficient and targeted in vivo delivery of CAR genes has become crucial for overcoming current therapeutic limitations. This study aims to develop an orally administrable nano-gene delivery system for the targeted delivery of CAR genes to pancreatic tumor sites. MethodsCore nano-gene particles (PNP/pCAR) were constructed by loading plasmid DNA encoding CAR (pCAR) with cationic polypeptides (PNP). Subsequently, PNP/pCAR was surface-modified with β-glucan to prepare the targeted nanoparticles (βGlus-PNP/pCAR). The loading efficiency of PNP for pCAR was quantitatively assessed by gel retardation assay. The particle size, Zeta potential, morphology, and storage stability of PNP/pCAR were characterized using a Malvern particle size analyzer and transmission electron microscopy. At the cellular level, RAW 264.7 macrophages were selected. The cytotoxicity of PNP/pCAR was evaluated using the CCK-8 assay. The cellular uptake efficiency and lysosomal escape ability of the nanoparticles were assessed via flow cytometry and confocal microscopy. Transfection efficiency was quantitatively evaluated by detecting the expression of the reporter gene GFP using flow cytometry. At the in vivo level, an orthotopic pancreatic cancer mouse model was established. Cy7-labeled βGlus-PNP/pCAR nanoparticles were administered orally, and the fluorescence distribution in mice was dynamically monitored at 1, 2, 4, 8, and 16 h post-administration using a small animal in vivo imaging system. Forty-eight hours after oral gavage, the mice were euthanized, and pancreatic tumor tissues were collected for further analysis of intratumoral fluorescence signals using the imaging system. Additionally, βGlus-PNP/pCAR-GFP nanoparticles loaded with the reporter gene (GFP) were administered orally. Forty-eight hours post-administration, pancreatic tumor tissues were harvested to prepare frozen sections, and GFP expression was observed and analyzed under a fluorescence microscope. ResultsThe PNP carrier exhibited a high loading capacity for pCAR. The successfully prepared PNP/pCAR nanoparticles were regular spheres with a hydrodynamic diameter of approximately (120±10) nm and a Zeta potential of about +(6±1) mV. They maintained good structural stability after incubation in PBS buffer for 7 d. Cell experiments demonstrated that PNP/pCAR exhibited no significant cytotoxicity in RAW 264.7 cells while being efficiently internalized and effectively escaping lysosomal degradation. The transfection positive rate of PNP/pCAR-GFP in RAW 264.7 cells reached (25±3)%, surpassing that of Lipofectamine 2000-loaded pCAR-GFP (Lipo/pCAR-GFP), which was (20±1)%.In vivo experiments revealed that, compared to unmodified PNP/pCAR, βGlus-PNP/pCAR exhibited strongerin situ pancreatic tumor targeting ability after oral administration. Furthermore, oral administration of βGlus-PNP/pCAR-GFP resulted in significant GFP protein expression detectable within pancreatic tumor tissues. ConclusionThis study successfully constructed and validated an orally administrable, pancreatic cancer-targeting polypeptide-based nano-gene delivery system. It provides an important technological foundation in delivery systems and experimental basis for the subsequent development of in situ CAR-M-based therapeutic strategies for pancreatic cancer.
7.Polypeptide-based Nanocarriers for Oral Targeted Delivery of CAR Genes to Pancreatic Cancer
Feng XIN ; Jian REN ; Zhao-Zhen LI ; Quan FANG ; Rui-Jing LIANG ; Lan-Lan LIU ; Lin-Tao CAI
Progress in Biochemistry and Biophysics 2026;53(2):431-441
ObjectivePancreatic ductal adenocarcinoma (PDAC) exhibits a limited response to current treatments due to its dense fibrotic stroma and highly immunosuppressive tumor microenvironment. In recent years, advancements in cellular immunotherapy, particularly chimeric antigen receptor macrophage (CAR-M) therapy, have offered new hope for pancreatic cancer treatment. Although CAR-M therapy demonstrates dual potential in directly killing tumor cells and remodeling the immune microenvironment, it still faces challenges such as complex in vitro preparation processes and low in vivo targeting and delivery efficiency. Therefore, developing strategies for efficient and targeted in vivo delivery of CAR genes has become crucial for overcoming current therapeutic limitations. This study aims to develop an orally administrable nano-gene delivery system for the targeted delivery of CAR genes to pancreatic tumor sites. MethodsCore nano-gene particles (PNP/pCAR) were constructed by loading plasmid DNA encoding CAR (pCAR) with cationic polypeptides (PNP). Subsequently, PNP/pCAR was surface-modified with β-glucan to prepare the targeted nanoparticles (βGlus-PNP/pCAR). The loading efficiency of PNP for pCAR was quantitatively assessed by gel retardation assay. The particle size, Zeta potential, morphology, and storage stability of PNP/pCAR were characterized using a Malvern particle size analyzer and transmission electron microscopy. At the cellular level, RAW 264.7 macrophages were selected. The cytotoxicity of PNP/pCAR was evaluated using the CCK-8 assay. The cellular uptake efficiency and lysosomal escape ability of the nanoparticles were assessed via flow cytometry and confocal microscopy. Transfection efficiency was quantitatively evaluated by detecting the expression of the reporter gene GFP using flow cytometry. At the in vivo level, an orthotopic pancreatic cancer mouse model was established. Cy7-labeled βGlus-PNP/pCAR nanoparticles were administered orally, and the fluorescence distribution in mice was dynamically monitored at 1, 2, 4, 8, and 16 h post-administration using a small animal in vivo imaging system. Forty-eight hours after oral gavage, the mice were euthanized, and pancreatic tumor tissues were collected for further analysis of intratumoral fluorescence signals using the imaging system. Additionally, βGlus-PNP/pCAR-GFP nanoparticles loaded with the reporter gene (GFP) were administered orally. Forty-eight hours post-administration, pancreatic tumor tissues were harvested to prepare frozen sections, and GFP expression was observed and analyzed under a fluorescence microscope. ResultsThe PNP carrier exhibited a high loading capacity for pCAR. The successfully prepared PNP/pCAR nanoparticles were regular spheres with a hydrodynamic diameter of approximately (120±10) nm and a Zeta potential of about +(6±1) mV. They maintained good structural stability after incubation in PBS buffer for 7 d. Cell experiments demonstrated that PNP/pCAR exhibited no significant cytotoxicity in RAW 264.7 cells while being efficiently internalized and effectively escaping lysosomal degradation. The transfection positive rate of PNP/pCAR-GFP in RAW 264.7 cells reached (25±3)%, surpassing that of Lipofectamine 2000-loaded pCAR-GFP (Lipo/pCAR-GFP), which was (20±1)%.In vivo experiments revealed that, compared to unmodified PNP/pCAR, βGlus-PNP/pCAR exhibited strongerin situ pancreatic tumor targeting ability after oral administration. Furthermore, oral administration of βGlus-PNP/pCAR-GFP resulted in significant GFP protein expression detectable within pancreatic tumor tissues. ConclusionThis study successfully constructed and validated an orally administrable, pancreatic cancer-targeting polypeptide-based nano-gene delivery system. It provides an important technological foundation in delivery systems and experimental basis for the subsequent development of in situ CAR-M-based therapeutic strategies for pancreatic cancer.
8.Research on The Genealogical Inference Efficiency of High-density SNPs
Jing LI ; Yi-Jie SUN ; Wen-Ting ZHAO ; Zi-Chen TANG ; Jing LIU ; Cai-Xia LI
Progress in Biochemistry and Biophysics 2026;53(3):740-753
ObjectiveThis study aims to explore the potential of different orders of magnitude single-nucleotide polymorphism (SNP) locus combinations for predicting distant kinship relationships. A high-density SNP locus set was constructed, and a comprehensive assessment of its inference capability was conducted. MethodsFirstly, we selected three commercial chip panels, CGA (Chinese genotyping array, Illumina), GSA (Global screening array, Illumina), Affy (23MF_V2 high-density SNP array, Affymetrix) and merged them after quality control, forming a high-density SNP locus panel(1 180 k). Secondly, we selected 161 samples and collected their peripheral blood samples by using whole-genome sequencing technology. Within this sample population, the levels of kinship relationships fully covered the range from level 1 to level 9, and the number of kinship pairs at each level was consistently maintained at over 50 pairs. From 161 samples data of whole-genome sequencing, the 1 180 k locus set was extracted, which is referred to as the high-density SNP locus set in the following text. The kinship inference was conducted using the identity-by-descent (IBD) algorithm with the selected optimal parameters. To comprehensively evaluate the performance of the high-density SNP locus set in kinship inference, we compared it with the three commercial chip panels, the intersection of these three chip loci, and the control sets constructed by randomly reducing the number of the high-density SNP locus set. Based on the changes in the IBD lengths, as well as the dynamic trends in prediction accuracy, we conducted a scientific assessment of the kinship inference capability of the high-density SNP locus set. ResultsAfter screening, a set of 1 184 334 autosomal SNPs was obtained. During the process of screening the optimal IBD length threshold, the result revealed that 0 cM, 1 cM, and 2 cM all demonstrated good applicability. However, to avoid the issue of a large amount of redundant information caused by setting a too low IBD length threshold, this study ultimately selected 2 cM as the optimal threshold. Compared with the average results of three chip panels, the high-density SNP locus set increased the total IBD length and the average IBD length across levels 1-9; the accuracy of the confidence interval for level 8 was 70.97%, which represented a 3.50% improvement; the average confidence interval accuracy for levels 1-8 was 91.39%, representing a 1.00% increase; and the false negative rates at levels 8 and 9 were reduced by 2.42% and 6.76%, respectively. The system efficacy of the high-density SNP locus set for kinship inference of first to eighth degree relationships reached 98.91%. Through random reduction of the high-density SNP locus set results, it is found that increasing the number of SNPs with the panel, the detection efficiency of IBD length showed a significant upward trend. At the same time, the overall trend in the accuracy of kinship relationship prediction as well as the confidence interval accuracy also indicated that both metrics steadily increased with the addition of more loci. ConclusionThe results show that the high-density SNPs panel significantly enhances the efficacy of distant kinship inference, accurately covering kinship degrees, with the average confidence interval accuracy for first to eighth degree relationships stably above 90%. The study finds that increasing the number of SNPs panel can improve the ability to predict distant kinship.
9.Mechanism of action of organelle interactions in the progression of liver fibrosis and traditional Chinese medicine prevention and treatment strategies
Yuanyuan ZHENG ; Chenlu ZHAO ; Lihui ZHANG ; Sutong LIU ; Wenxia ZHAO
Journal of Clinical Hepatology 2026;42(3):711-717
Liver fibrosis is the core pathological stage of the progression of various chronic liver diseases to liver cirrhosis, and hepatic stellate cell (HSC) activation and the abnormal accumulation of collagen fibers are important processes for the development and progression of liver fibrosis. In recent years, studies have shown that HSC activation is regulated by the complex interactions between various organelles (including mitochondria, endoplasmic reticulum, Golgi apparatus, lysosome, and peroxisomes), and such interactions affect the key cellular processes such as energy metabolism, protein synthesis and folding, reactive oxygen species balance, and autophagy, thereby participating in the progression of liver fibrosis. Meanwhile, traditional Chinese medicine and its active ingredients with multi-target synergistic effects have attracted wide attention. From the perspective of the interaction between organelles, this article systematically elaborates on the specific mechanism of such interactions in the progression of liver fibrosis and reviews how traditional Chinese medicine inhibits HSC activation and collagen production by regulating the function of these organelle and their interaction networks, thereby exerting an anti-liver fibrosis effect, in order to provide a theoretical basis for in-depth understanding of the pathological mechanism of liver fibrosis and the development of new traditional Chinese medicine intervention strategies.
10.Clinical Efficacy and Economic Evaluation of 1293 Non-Severe Adult Patients with Community-Acquired Pneumonia Treated by the Jiangsu Traditional Chinese Medicine Diagnosis and Treatment Protocol for Dominant Diseases:A Multicenter,Retrospective Real-World Cohort Study
Ye MA ; Yeqing JI ; Zhichao WANG ; Fanchao FENG ; Mingzhi PU ; Hong LYU ; Xiaodong HU ; Gaohua FENG ; Xiaoqian FANG ; Guicai ZHANG ; Yanfen TANG ; Yeqing ZHANG ; Yao ZHUFU ; Wenpan PENG ; Hao WANG ; Cheng GU ; Zhichao ZHANG ; Shuang YANG ; Xinyu SUN ; Qi ZHAO ; Aojie GUO ; Xin TONG ; Zhuoyue WU ; Xiaoxiao WANG ; Jia LIU ; Hailang HE ; Xianmei ZHOU
Journal of Traditional Chinese Medicine 2026;67(9):966-974
ObjectiveTo evaluate the clinical efficacy and economic value of the Jiangsu Traditional Chinese Medicine (TCM) Diagnosis and Treatment Protocol for Dominant Diseases (abbreviated as the Diagnosis and Treatment Protocol) in adult patients with non-severe community-acquired pneumonia (CAP) based on real-world clinical data. MethodsA retrospective real-world cohort study was conducted using electronic medical records of adult patients hospitalized for non-severe CAP from September 1st, 2023 to December 31st, 2024 across 10 TCM hospitals in Jiangsu province. Patients were classified into an exposure group and a non-exposure group based on whether they received Chinese herbal medicine (CHM) according to the Diagnosis and Treatment Protocol. The non-exposure group received only conventional western medicine, while the exposure group additionally received differentiated CHM for at least five consecutive days. Outcomes were compared between two patient groups, including cough resolution rate, sputum resolution rate (assessed by volume, color, and consistency), incidence of abnormal C-reactive protein (CRP), incidence of abnormal white blood cell (WBC) count, and radiographic resolution rate of pulmonary infiltrates on chest imaging. Multivariable logistic regression was performed to identify factors influencing clinical efficacy. Subgroup analyses were conducted according to age, gender, smoking status, history of hypertension, and pneumonia severity score (CURB-65), and the efficacy of treatment for cough and sputum was analyzed within each subgroup. Cost-effectiveness analysis was conducted using cough resolution rate as the outcome measure, evaluating the pharmacoeconomics of the two groups. ResultsA total of 1688 patients were included with 1293 in the exposure group and 395 in the non-exposure group. Compared to the non-exposure group, the exposure group demonstrated significantly higher resolution rates of cough, sputum volume, color, and consistency, as well as a significantly lower incidence of abnormal CRP (P<0.05). No statistically significant difference was observed between the groups in terms of abnormal WBC count and radiographic resolution rate of pulmonary infiltrates (P>0.05). Logistic regression analysis showed that the cough resolution rate in the exposure group was 1.83 times that of the non-exposure group, while the probabilities of resolution in sputum volume, color, and consistency were 1.37, 2.09, and 1.56 times those of the non-exposure group, respectively (P<0.05). Subgroup analyses showed that the exposure group achieved significantly higher cough resolution rates across most subgroups except for populations with a CURB-65 score ≥2 or those with a history of hypertension (P<0.05). Specifically, among females, patients aged ≥18 and <65 years, non-smokers, those without hypertension, and those with a CURB-65 score of 0, the exposure group showed a higher cough resolution rate than the non-exposure group (P<0.05). From an economic perspective, total hospitalization cost, length of stay, antibiotic cost, and CHM cost all differed significantly between groups (P<0.05). The cost-effectiveness ratio (CER) was 10,788.80 CNY/case in the exposure group, while 22,513.80 CNY/case in the non-exposure group. This implies that, compared with the exposure group, the non-exposure group incurred an additional 17,302.27 CNY to achieve one case of cough resolution. When the willingness-to-pay threshold ranged from 0 to 50,000 CNY, the probability of economic advantage was consistently higher in the exposure group than in the non-exposure group. ConclusionOn the basis of conventional western medicine, the addition of CHM in accordance with the Diagnosis and Treatment Protocol can effectively improve clinical symptoms, reduce inflammatory markers, promote clinical recovery, and is more cost-effective in treating adults with non-severe CAP.


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