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
;
Mosaicism
;
Pregnancy
;
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*
;
Amniocentesis
2.Physicochemical properties and biocompatibility of hydroxyapatite/graphene oxide/interleukin-4 composite coating materials
Congcong LI ; WUFANBIEKE·BAHETI ; Li ZHAO ; Xiaotao CHEN ; Chuifan KONG ; Min YU
Chinese Journal of Tissue Engineering Research 2026;30(2):404-413
BACKGROUND:Pure titanium and titanium alloy implants are widely used in the field of implant restoration due to their excellent biocompatibility and elastic modulus.However,the biological inertness of the surface of titanium-based implants leads to poor integration with surrounding bone tissues,and surface modification is required to improve the bone integration ability of titanium-based implants.OBJECTIVE:To fabricate hydroxyapatite/graphene oxide/interleukin-4 composite coatings on pure titanium substrates,and to investigate their physicochemical properties and biocompatibility of the coating materials.METHODS:Hydroxyapatite/graphene oxide/interleukin-4 composite coatings were prepared on pure titanium substrates by electrochemical deposition and freeze-drying.Titanium sheets loaded with interleukin-4 and titanium sheets loaded with hydroxyapatite/graphene oxide coatings were prepared at the same time,and the physicochemical properties of pure titanium sheets and the above three titanium sheets were characterized.MC3T3-E1 cells were inoculated on the surfaces of pure titanium sheets and the above three titanium sheets,respectively.Cell proliferation was detected by CCK-8 assay and DAPI staining.Cell activity was detected by Calcein-AM/PI staining.Cell morphology and adhesion were observed by scanning electron microscopy.RESULTS AND CONCLUSION:(1)Scanning electron microscopy,energy-dispersive X-ray spectroscopy,X-ray photoelectron spectroscopy,X-ray diffraction,and Raman spectroscopy confirmed the successful fabrication of the hydroxyapatite/graphene oxide/interleukin-4 composite coating on the titanium surface.The water contact angle of hydroxyapatite/graphene oxide/interleukin-4 group was larger than that of pure titanium group and hydroxyapatite/graphene oxide group,and smaller than that of interleukin-4 group.(2)CCK-8 assay and DAPI staining results showed that hydroxyapatite/graphene oxide/interleukin-4 coating could promote the proliferation of MC3T3-E1 cells.Calcein-AM/PI staining results showed that MC3T3-E1 cells in hydroxyapatite/graphene oxide/interleukin-4 coating group had higher activity and fewer dead cells.Scanning electron microscopy showed that MC3T3-E1 cells adhered to the surfaces of the four groups of materials with good cell morphology.Compared with the pure titanium group,the MC3T3-E1 cells in the interleukin-4 group extended more pseudopodia,the cell-cell connections were closer,and the adhesion area was larger;compared with the hydroxyapatite/graphene oxide group,the MC3T3-E1 cells in the hydroxyapatite/graphene oxide/interleukin-4 group extended more pseudopodia,the cell-cell connections were closer,and the adhesion area was larger.(3)These findings indicate that the hydroxyapatite/graphene oxide/interleukin-4 composite coating possesses favorable physicochemical and biological properties.
3.Potential target genes for spondylolisthesis:drugable genome analysis based on the European population-based biodatabase
Qingfeng ZHANG ; Chaoyi WANG ; Jingyan YANG ; Hanyu LI ; Yuyang ZHAO ; Huatao HAO ; Dong YU
Chinese Journal of Tissue Engineering Research 2026;30(6):1592-1601
BACKGROUND:Spondylolisthesis is a common disease,and there is a lack of effective drugs to treat it.There is still a need to further define the pathogenesis and screen out more suitable therapeutic targets for spondylolisthesis.Mendelian randomization analysis can be used to explore the drugable genes associated with spondylolisthesis and provide valuable guidance for the development of more effective and targeted therapeutic drugs.OBJECTIVE:To explore potential therapeutic targets and effective drugs for spondylolisthesis by means of pharmaceutically available genome-wide Mendelian randomization analysis.METHODS:Using the Finnish database,eQTLGen consortium,drug signature database,drug-gene interaction database,protein-protein interaction database,organic small molecule biological activity database and protein structure database,which contains genome and health information of half a million Finns,data on druggable genes were subjected to two-sample Mendelian randomization analysis and co-localization analysis with data from genome-wide association studies of spondylolisthesis to identify genes highly associated with spondylolisthesis.In addition,GO and KEGG enrichment analysis,protein network construction,drug prediction and molecular docking were performed to provide valuable guidance for the development of more effective and targeted therapeutic agents.RESULTS AND CONCLUSION:In this study,we identified 34 potential drug target genes that were significantly associated with spondylolisthesis,particularly the gene APOBEC3G.This gene showed a significant association with spondylolisthesis outcomes through Mendelian analysis and co-localization analysis,suggesting that APOBEC3G may be a priority therapeutic target.As for other potential mechanisms and drugs,we still need to conduct more in-depth research to determine their roles.This study used a database from a European population,which can be used as a reference for the study of population genetics in China.
4.Establishment and validation of a model for femoral head necrosis after internal fixation of femoral neck fracture using logistic regression and SHAP analysis
Long LIAO ; Zepeng ZHAO ; Zongyuan LI ; Qinglong YU ; Tao ZHANG ; Jinyuan TANG ; Nan YE ; Han XU ; Bo SHI
Chinese Journal of Tissue Engineering Research 2026;30(3):626-633
BACKGROUND:The most common complication of traumatic femoral neck fractures after internal fixation is femoral head necrosis.Currently,many studies have reported on the risk factors that affect the occurrence and development of postoperative femoral head necrosis,but there is still a lack of tools to predict the risk of femoral head necrosis after internal fixation of femoral neck fractures.OBJECTIVE:To develop a predictive model that estimates the risk of femoral head necrosis shortly after patients with femoral neck fractures receive cannulated screw internal fixation.METHODS:A retrospective analysis reviewed clinical records of 172 patients who underwent cannulated screw internal fixation for femoral neck fractures at Department of Orthopedics of Mianyang Central Hospital from January 2013 to June 2023.Patients were categorized into two groups based on the presence or absence of femoral head necrosis within one year post-operation:the necrosis group and the non-necrosis group.Univariate analysis,Lasso regression,and multivariate Logistic regression techniques were employed to identify the determinants of femoral head necrosis.A nomogram prediction model was constructed using R language's"rms"package,version 4.0.The receiver operating characteristic curve was used to evaluate the discriminatory ability of the model.The Hosmer-Lemeshow test was used to evaluate the goodness of fit of the model,and the decision curve analysis was used to determine its clinical application benefits.Internal validation of the study was conducted using the Bootstrap method,involving 1 000 repeated samplings.To delve deeper into the primary factors influencing femoral head necrosis post-internal fixation of the femoral neck,this paper employed the SHAP method for data set analysis.RESULTS AND CONCLUSION:(1)The risk factors leading to femoral head necrosis in the short term after cannulated screw fixation of femoral neck fractures include:smoking,diabetes,Garden classification,fracture line location,reduction quality,age,and operation time.(2)The prediction model demonstrated robust performance,evidenced by an area under the curve of 0.940(95%Confidence Interval:0.903 to 0.977),indicating a high level of prediction accuracy.The model achieved a sensitivity of 90.2%and a specificity of 87.6%,indicating that its diagnostic performance was stable.The Hosmer-Lemeshow goodness-of-fit test yielded a chi-square value of 6.593 with a P-value of 0.581,confirming that the model's predictions closely align with the observed outcomes.(3)The calibration curve of the model also performed well,and its overall trend was very close to the ideal curve,further proving the high accuracy of the model.(4)The internal validation was carried out by the Bootstrap method with 1 000 repeated samplings,and the area under the curve of the model internal validation was still as high as 0.939,proving that the model had good stability.(5)Through the decision curve,it is found that within the probability threshold range of 1%to 92%,the model can obtain the maximum net benefit value.(6)The SHAP analysis results show that among the risk factors analyzed in this study,the location of the fracture line serves as the most significant predictor of femoral head necrosis following internal fixation with cannulated screws in femoral neck fractures,and subcapital fractures are extremely prone to femoral head necrosis after surgery.(7)It is concluded that the validated prediction model demonstrates strong discriminative power and reliability,offering practical clinical utility.It serves as a useful reference tool for short-term risk assessment of femoral head necrosis following internal fixation of femoral neck fractures.
5.The current status of international health communication research and its implications for China
Lingyan YANG ; Zihan YU ; Yueqiao ZHAO ; Zhenping LI ; Jianyi YAO ; Hao LI ; Yuhui ZHOU
Journal of Public Health and Preventive Medicine 2026;37(1):18-21
Objective To systematically review international research on health communication, and to provide valuable insights and reference for China's health communication research and practice. Methods This study included 693 articles published from January 2023 to April 2024 in two authoritative academic journals in the field of health communication, “Health Communication” and the “Journal of Health Communication”. A systematic review was conducted on the themes, theoretical foundations, research methods, and populations of international health communication research. Results The findings in this study revealed that international health communication research topics were diverse, with hotspots including social media, health information behavior, health misinformation, stigmatization, trust, and risk perception. The results showed that 34% of the articles were based on theoretical foundations, and 93.3% employed research methods, focusing on adolescents, parents, women, and other key populations. Conclusion Domestic health communication research can expand its perspective from “information transmission” to “social interaction”, innovate theories and methods from “single paradigm" to “multi-integration” and shift focus from a “mass perspective” to “targeted care” for the health of all populations. Domestic health communication practice can delve into the localization of social media health communication practices, the comprehensive management of health misinformation, and the critical application of new technologies.
6.Microscopic Mechanism of Ulcerative Colitis and New Ideas on Medicine Management Based on Theory of Mutual Interference Between Lucidity and Turbidity
Yuying XU ; Changpu ZHAO ; Lei LUO ; Renwu CHEN ; Zishun LI ; Meiling LI ; Rongzhi LI ; Yu ZHANG ; Guangjie SHU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(1):288-299
The chapter Zhouyu in Guoyu says "Qi of the heaven and the earth moves without losing its order." With lucidity ascending and turbidity descending, Qi moves in a normal state, and Yin and Yang consolidate the foundation of the body. The mutual interference between lucidity and turbidity leads to the disorder of Qi movement, thus causing diseases. It is a pathological state of disorder between ascending and descending, as well as between entering and exiting, gradually evolving into a state of turbidity affecting lucidity and transforming into pathogen, which can be used to interpret and analyze the core of disease pathogenesis. The theory of lucidity and turbidity is connected with the harmony of nutrient and defensive aspects, Qi circulation, and sweat pore associating with Qi movement, and it has common implications with immune responses and nutrient metabolism system, intestinal mucosal barrier function, and mitochondrial energy synthesis. Modern studies have shown that intestinal flora imbalance, bile acid receptor inactivation, macrophage polarization imbalance, epithelial-mesenchymal transition, ferroptosis and other related microscopic pathological mechanisms are involved in the development and progression of ulcerative colitis. By delving into the common meaning of the classic theory of mutual interference between lucidity and turbidity in traditional Chinese medicine and modern medical pathological mechanisms, this paper summarizes the correspondence between the micropathological mechanism and the theory of mutual interference between lucidity and turbidity in the regulation and mamagement of ulcerative colitis. The combined use of sweet and warm medicinal materials consolidates the middle Qi and activates Qi circulation, thus ascending lucidity and descending turbidity. The combined use of pungent medicinal materials for dispersing and bitter medicinal materials for descending simultaneously raises warm and clear Qi. Wind-extinguishing medicinal materials facilitate the ascending of Qi and the opening of sweat pores. Accordingly, turbidity descends and lucidity ascends. The prescriptions incorporating these medication principles are in agreement with the therapeutic approach of following the normal flow of lucidity and turbidity. This paper clarifies the scientific connotation and micropathologic mechanism of ulcerative colitis from the perspective of mutual interference between lucidity and turbidity, providing new theories and prescriptions for the clinical diagnosis, treatment, and prevention of ulcerative colitis.
7.Research progress on the intervention of traditional Chinese medicine in lipid metabolism for obesity treatment via cAMP signaling pathway
Yu ZHANG ; Xiaoran WANG ; Yiping FU ; Yuting LIU ; Quanyou ZHAO ; Linna CUI ; Mingsan MIAO
China Pharmacy 2026;37(4):522-527
Obesity, a global chronic disease, is associated with adipose tissue dysfunction, which is one of the contributing factors to obesity. The cyclic adenosine monophosphate (cAMP) signaling pathway, a key regulator of lipid metabolism, plays a pivotal role in obesity development. Various of traditional Chinese medicine monomers, such as flavonoids, lignans, phenols, and terpenoids, as well as traditional Chinese medicine compound formulas like Xiaoyao powder, Shengmai powder, and Zexie decoction, can maintain energy homeostasis, balance adipose tissue function, regulate glucose metabolism, improve insulin resistance, and suppress inflammatory responses through cAMP signaling pathway regulation, thereby intervening in lipid metabolism for obesity treatment. Although a substantial amount of basic research has preliminarily elucidated the potential mechanisms by which traditional Chinese medicine intervenes in obesity through the cAMP signaling pathway, clinical translational research remains inadequate. There is an urgent need for large-sample, high-quality randomized controlled trials to validate these findings.
8.Status and implications of pharmacist competency assessment tools
Yu TIAN ; Bei DING ; Chenyang ZHANG ; Yi ZHAO ; Jiaying WANG
China Pharmacy 2026;37(5):553-558
OBJECTIVE To systematically review the status on pharmacist competency assessment tools both domestically and internationally, providing a theoretical basis for constructing scientific and applicable pharmacist competency assessment tools in China. METHODS Through literature review and comparative analysis, 15 representative domestic and international pharmacist competency assessment tools were systematically summarized, and their theoretical foundations, core dimensions, methodological characteristics and practical applications were compared and implications were given. RESULTS &CONCLUSIONS International research has established relatively mature evaluation systems. Represented by those developed from the United Kingdom, the United States, and the International Pharmaceutical Federation, these assessment tools demonstrate scientific structure, wide application, and dynamic and international applicability. While domestic research has progressed in sub-specialties such as clinical pharmacists, licensed pharmacists and pediatric pharmacists, it still faces challenges including insufficient standardization, inadequate validation, delayed updates, and limitations in practical application. The reasons for the disparities in assessment tools between China and other countries include differences in pharmaceutical care models, varying pharmacist training systems, cultural and social background factors, as well as differences in industry management and international influence. Based on this, the author suggests promoting the development and research of assessment tools for pharmacist job competency in China from four aspects: mechanism construction, system refinement, standardization development, and practical implementation.
9.Preparation,characterization,and in vitro antitumor activity of Gambogic acid-loaded intelligent responsive liposome-hydrogel nanopreparation
Yu CHEN ; Shengnan HUANG ; Ziang WANG ; Yunlong ZHAO ; Gaojian WEI ; Sinan WU ; Yanbin GUAN ; Xiali ZHU
China Pharmacy 2026;37(5):613-619
OBJECTIVE To prepare an intelligent responsive liposome-hydrogel nanopreparation co-loaded with gambogic acid (GA), and characterize its antitumor activity in vitro . METHODS GA-ICG-Lip-gel was prepared by ethanol injection and cold dissolution, incorporating GA and the photosensitizer indocyanine green (ICG). The appearance and microscopic morphology of GA-ICG-Lip-gel were observed, its encapsulation efficiency and drug loading capacity were measured, and its photothermal conversion performance, photothermal stability, and infrared imaging properties were investigated, along with the determination of its in vitro release profile. Human breast cancer MCF-7 cells were used as objects to investigate the effects of GA-ICG-Lip-gel (or with near-infrared light irradiation) on cell viability, migration ability, and the cellular uptake capacity of GA-ICG-Lip-gel. RESULTS GA-ICG-Lip-gel existed in a solution state at room temperature and transformed into a gel state at 37 ℃. Its microstructure was dense with small pores, and its encapsulation efficiency and drug loading were (96.07±0.86) % and (6.28±1.16) %, respectively. After exposure to near-infrared light, the temperature of GA-ICG-Lip-gel rose above 42 ℃, with no significant attenuation observed in the heating curve. The heating efficiency was dependent on both the irradiation time and drug concentration. Compared to media without gelatinase, the cumulative release rate of GA-ICG-Lip-gel increased in media containing gelatinase. In vitro studies showed that GA-ICG-Lip-gel could be efficiently taken up by MCF-7 cells; GA-ICG-Lip-gel significantly inhibited the viability and migration ability of MCF-7 cells ( P <0.05), and this inhibitory effect was further enhanced under near-infrared light irradiation. CONCLUSIONS This study successfully prepares GA-ICG-Lip-gel, which exhibits favorable photothermal conversion properties and temperature/enzyme dual-responsive drug release characteristics, and demonstrates significant inhibitory effects on the proliferation and migration of breast cancer cells.
10.Chufeng Yisuntang Ameliorates PM2.5-induced Dry Eye via ROS/p38 MAPK Signaling Pathway
Yuan ZHONG ; Pan ZHAO ; Shi TAN ; Yu TANG ; Dongdong LI ; Lihao CHEN ; Jun PENG ; Qinghua PENG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(7):191-200
ObjectiveTo establish a mouse model of particulate matter 2.5 (PM2.5)-induced dry eye and investigate whether Chufeng Yisuntang can ameliorate the PM2.5-induced ocular surface damage by regulating the reactive oxygen species (ROS)/p38 mitogen-activated protein kinase (p38 MAPK) signaling pathway. MethodsSixty 8-week-old male C57BL/6J mice were used. Ten were randomly selected as the control group. The remaining 50 mice received topical instillation of 1 drop (0.1 mL) of 5 g·L-1 PM2.5 suspension in both eyes, four times daily. Successfully modeled mice were randomized into four groups (n=10): Model, p38 MAPK inhibitor, Chufeng Yisuntang, and combination (Chufeng Yisuntang at 7.3 g·kg-1 + p38 MAPK inhibitor SB203580 at 5 mg·kg-1). Chufeng Yisuntang was administered via gavage, and the inhibitor group via intraperitoneal injection. The control and model groups received equal volumes of distilled water by gavage. All treatments lasted for 4 weeks. General conditions were dynamically observed. Tear secretion, tear film break-up time, and corneal fluorescein staining were assessed. After intervention for 4 weeks, hematoxylin and eosin (HE) staining was used to examine the histopathological changes. Enzyme-linked immunosorbent assay (ELISA) was adopted to measure serum levels of ROS, malondialdehyde (MDA), superoxide dismutase (SOD) 1, and SOD2. Western blot and Real-time PCR were employed to determine the protein and gene levels, respectively, of p38 MAPK, B-cell lymphoma-2 (Bcl-2), Bcl-2-associated X protein (Bax), and cysteinyl aspartate-specific proteinase-3 (Caspase-3) in the corneal tissue. ResultsCompared with the control group, the model group exhibited reduced tear secretion volume and tear film breakup time, along with increased corneal fluorescein staining scores (P<0.01). Compared with the model group, the Chufeng Yisuntang group, p38 MAPK inhibitor group, and combination group demonstrated increased tear secretion volume and tear film breakup time, along with decreased corneal fluorescein staining scores (P<0.01). HE staining revealed that compared with the control group, the model group exhibited marked increases in corneal epithelial cell layers and epithelial thickness, along with reduced meibomian gland acini and intensely stained, densely packed nuclei around the acini. Compared with the model group, the Chufeng Yisuntang group, p38 MAPK inhibitor group, and combination group showed intact corneal structure, improved cell morphology, and reduced damage severity. ELISA revealed elevated ROS and MDA levels (P<0.01) and decreased SOD1 and SOD2 levels (P<0.01) in the model group compared with the control group. Compared with the model group, Chufeng Yisuntang, p38 MAPK inhibitor, and the combination lowered ROS and MDA levels (P<0.01), while raising SOD1 and SOD2 levels (P<0.05, P<0.01). Western blot revealed that compared with the control group, the model group exhibited increased protein levels of p38 MAPK, Bax, and Caspase-3 (P<0.01) and reduced protein level of Bcl-2 (P<0.01). Compared with the model group, Chufeng Yisuntang, p38 MAPK inhibitor, and the combination down-regulated the protein levels of p38 MAPK, Bax, and Caspase-3 (P<0.01), while up-regulating the protein level of Bcl-2 (P<0.01). Compared with the Chufeng Yisuntang group, the combination group exhibited decreased protein levels of p38 MAPK, Bax, and Caspase-3 (P<0.01) and increased protein level of Bcl-2 (P<0.01). Real-time PCR revealed that compared with the control group, the model group exhibited upregulated mRNA levels of p38 MAPK, Bax, and Caspase-3 (P<0.01), and downregulated mRNA level of Bcl-2 (P<0.01). Compared with the model group, Chufeng Yisuntang, p38 MAPK inhibitor, and the combination down-regulated the mRNA levels of p38 MAPK, Bax, and Caspase-3 (P<0.01), while up-regulating the mRNA level of Bcl-2 (P<0.05, P<0.01). Compared with the Chufeng Yisuntang group, the combination group exhibited decreased mRNA levels of p38 MAPK, Bax, and Caspase-3 expression (P<0.05, P<0.01) and increased mRNA level of Bcl-2 (P<0.01). ConclusionChufeng Yisuntang may partially protect against PM2.5-induced corneal injury by inhibiting the ROS/p38 MAPK pathway, enhancing antioxidant defense, and reducing epithelial apoptosis.


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