1.Proteomics combined with bioinformatics analysis of protein markers of dry eye
Yanting YANG ; Yajun SHI ; Guang YANG ; Haiyang JI ; Jie LIU ; Jue HONG ; Dan ZHANG ; Xiaopeng MA
International Eye Science 2025;25(1):104-111
AIM:To analyze differential proteins associated with the pathogenesis of dry eye(DE)using bioinformatics methods, in order to reveal their potential molecular mechanisms.METHODS: Articles published in PubMed and EMBASE databases from the inception of the database to August 31, 2023, that used proteomic methods to detect protein expression in clinical samples of dry eye were searched. Differential proteins were selected and further analyzed using the STRING database and Cytoscape software for hub gene screening and module analysis. Protein-protein interaction(PPI)analysis, gene ontology(GO)functional annotation, and Kyoto encyclopedia of genes and genomes(KEGG)pathway enrichment analysis were performed.RESULTS: A total of 21 articles were included, identifying 74 differentially expressed proteins. The most frequently occurring differential proteins were calgranulin A(SA1008), lipocalin-1(LCN1), lysozyme C(LYZ), mammaglobin-B(SCGB2A1), proline-rich protein 4(PRR4), transferrin(TF), and calgranulinB(S100A9). The top 10 hub genes were serum albumin(ALB), tumor necrosis factor(TNF), interleukin 6(IL6), IL1B, IL8, matrix metalloproteinase 9(MMP9), alpha-1-antitrypsin(SERPINA1), IL10, complement component 3(C3), and lactotransferrin(LTF). Module analysis suggested MMP9 and PRR4 as seed genes. KEGG analysis showed that differential proteins were mainly enriched in the IL17 signaling pathway(61.9%).CONCLUSION: The results reveal potential molecular targets and pathways for DE and confirm the association between the pathogenesis of DE and inflammation. Further in-depth research is needed to confirm the significance of these biomarkers in clinical practice.
2.Genotype and phenotype correlation analysis of retinitis pigmentosa-associated RHO gene mutation in a Yi pedigree
Yajuan ZHANG ; Hong YANG ; Hongchao ZHAO ; Dan MA ; Meiyu SHI ; Weiyi ZHENG ; Xiang WANG ; Jianping LIU
International Eye Science 2025;25(3):499-505
AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.
3.Genotype and phenotype correlation analysis of retinitis pigmentosa-associated RHO gene mutation in a Yi pedigree
Yajuan ZHANG ; Hong YANG ; Hongchao ZHAO ; Dan MA ; Meiyu SHI ; Weiyi ZHENG ; Xiang WANG ; Jianping LIU
International Eye Science 2025;25(3):499-505
AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.
4.Health risk assessment of fluoride and trichloromethane in drinking water in rural schools in Guizhou Province
JIAN Zihai, ZHANG Jianhua, SU Minmin, CHEN Xuanhao, YUAN Minlan, YANG Dan, CHEN Gang
Chinese Journal of School Health 2025;46(1):134-137
Objective:
To analyze the distribution characteristics of fluoride and trichloromethane in drinking water in rural schools in Guizhou Province and assess their health risks, so as to provide a scientific basis for ensuring the safety of drinking water in rural schools.
Methods:
During the dry season (March to May) and wet season (July to September) of 2020 to 2022, 788 rural primary and secondary schools in agricultural counties (districts) in Guizhou Province were selected for investigation by using a direct sampling method. A total of 1 566 drinking water samples were collected from these schools, and the mass concentrations of fluoride and trichloromethane in the water samples were detected. The Mann-Whitney U test was used for intergroup comparison, and a health risk assessment model was employed to evaluate the health risks of students oral intake of fluoride and trichloromethane.
Results:
From 2020 to 2022, the mass concentrations of fluoride and trichloromethane in the drinking water of rural schools in Guizhou Province all met the standards, and the ranges were no detection to 0.99 mg/L and (no detection to 0.06)×10 -3 mg/L, respectively. The mass concentrations of fluoride in dry and wet seasons were 0.05(0.05,0.10), 0.05(0.05,0.10) mg/L, the mass concentrations of trichloromethane were [0.02(0.02,1.00)]×10 -3 , [0.02(0.02,1.00)]×10 -3 mg/L, the mass concentrations of fluoride in factory water and terminal water were 0.05(0.05,0.05), 0.05(0.05,0.10) mg/L, and the differences were not statistically significant ( Z=-0.04, -0.88, - 0.98 , P >0.05). There was a statistically significant difference in the mass concentration of trichloromethane between factory water and peripheral water [0.02(0.02,0.02)×10 -3 , 0.02(0.02,1.05)×10 -3 mg/L]( Z=-2.16, P < 0.05 ). The non-carcinogenic risk assessment values for students oral exposure to fluoride and trichloromethane were in the range of 0.01(0.01,0.03)-0.03(0.03,0.06) and [0.26( 0.26 ,14.54)]×10 -4 -[0.52(0.52,48.62)]×10 -4 , respectively, all of which were at acceptable levels; the carcinogenic risk assessment values for oral exposure to trichloromethane were in the range of [0.08(0.08, 4.51 )]×10 -7 -[0.16(0.16,15.07)]×10 -7 , indicating a low risk.
Conclusions
The health risks of students expore to fluoride and trichloromethane in drinking water in rural schools of Guizhou Province are low. It is necessary to strengthen the standardized management of disinfection in some rural drinking water projects and the monitoring of fluoride in water sources to reduce the exposure risk to children.
5.Bufei Tongbi Decoction Inhibits Pulmonary Fibrosis in Diabetic Rats via TGF-β1/p-Smad3 Signaling Pathway
Gang WANG ; Rensong YUE ; Qiyue YANG ; Dan ZHANG ; Xin CHEN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(10):176-184
ObjectiveTo study the effect of Bufei Tongbi decoction on pulmonary fibrosis in diabetic rats via the transforming growth factor-β1 (TGF-β1)/phosphorylated Smad family member 3 (p-Smad3) signaling pathway. MethodsStreptozotocin (60 mg·kg-1) and bleomycin (24.80 U·kg-1) were used to prepare the rat model of diabetes with pulmonary fibrosis by intratracheal injection. Sixty rats were randomly assigned into blank, model, low-, medium-, and high-dose (3.98, 7.95, and 15.90 g·kg-1, respectively) Bufei Tongbi decoction, and pirfenidone (0.36 mg·kg-1) groups (n=10). The successfully modeled rats in each group were administrated with corresponding agents once per day for four consecutive weeks. After drug administration, fasting blood glucose and lung function indicators were measured. Chemical immunoassay was employed to determine the serum levels of hydroxyproline (Hyp), hyaluronic acid (HA), and laminin (LN). The lung index was determined by the wet and dry methods. The pathological changes in the lung tissue were observed by hematoxylin-eosin (HE) staining, and the degree of fibrosis was detected by Masson staining. The mRNA and protein levels of TGF-β1, p-Smad3, Smad3, α-smooth muscle actin (α-SMA), collagen type Ⅰ alpha 1 (Col1A1), and fibronectin were determined by PCR and Western blotting, respectively. ResultsCompared with the blank group, the model group showed alveolar septa thickening, obvious thickening of the basement membrane of pulmonary blood vessels, severe destruction of the alveolar structure, structural disarrangement of the lung parenchyma, and an increase in the proportion of inflammatory cell infiltration in the lung tissue, together with a large amount of blue collagen deposition and a large amount of collagen fibroplasia in the bronchial wall, vessel wall, interstitium, and alveolar wall, which indicated severe fibrosis. Bufei Tongbi decoction groups and the pirfenidone group showed lower fasting blood glucose level (P<0.05) and higher forced vital capacity (FVC), cytoplasmic dynein (Cydn), FEV0.3/FEV ratio, and lung index (P<0.05) than the model group. Moreover, these groups demonstrated alleviated lung fibrosis, elevated Hyp, HA, and LN levels, down-regulated mRNA levels of α-SMA, Col1A1, and fibronectin, and down-regulated protein levels of TGF-β1, Smad3, p-Smad3, α-SMA, Col1A1, and fibronectin (P<0.05). ConclusionBufei Tongbi decoction can inhibit pulmonary fibrosis in diabetic rats by inhibiting the TGF-β1/p-Smad3 signaling pathway.
6.Introduction and enlightenment of the Recommendations and Expert Consensus for Plasm a and Platelet Transfusion Practice in Critically ill Children: from the Transfusion and Anemia Expertise Initiative-Control/Avoidance of Bleeding (TAXI-CAB)
Lu LU ; Jiaohui ZENG ; Hao TANG ; Lan GU ; Junhua ZHANG ; Zhi LIN ; Dan WANG ; Mingyi ZHAO ; Minghua YANG ; Rong HUANG ; Rong GUI
Chinese Journal of Blood Transfusion 2025;38(4):585-594
To guide transfusion practice in critically ill children who often need plasma and platelet transfusions, the Transfusion and Anemia Expertise Initiative-Control/Avoidance of Bleeding (TAXI-CAB) developed Recommendations and Expert Consensus for Plasma and Platelet Transfusion Practice in Critically Ill Children. This guideline addresses 53 recommendations related to plasma and platelet transfusion in critically ill children with 8 kinds of diseases, laboratory testing, selection/treatment of plasma and platelet components, and research priorities. This paper introduces the specific methods and results of the recommendation formation of the guideline.
7.Comparison of Logistic Regression and Machine Learning Approaches in Predicting Depressive Symptoms: A National-Based Study
Xing-Xuan DONG ; Jian-Hua LIU ; Tian-Yang ZHANG ; Chen-Wei PAN ; Chun-Hua ZHAO ; Yi-Bo WU ; Dan-Dan CHEN
Psychiatry Investigation 2025;22(3):267-278
Objective:
Machine learning (ML) has been reported to have better predictive capability than traditional statistical techniques. The aim of this study was to assess the efficacy of ML algorithms and logistic regression (LR) for predicting depressive symptoms during the COVID-19 pandemic.
Methods:
Analyses were carried out in a national cross-sectional study involving 21,916 participants. The ML algorithms in this study included random forest (RF), support vector machine (SVM), neural network (NN), and gradient boosting machine (GBM) methods. The performance indices were sensitivity, specificity, accuracy, precision, F1-score, and area under the receiver operating characteristic curve (AUC).
Results:
LR and NN had the best performance in terms of AUCs. The risk of overfitting was found to be negligible for most ML models except for RF, and GBM obtained the highest sensitivity, specificity, accuracy, precision, and F1-score. Therefore, LR, NN, and GBM models ranked among the best models.
Conclusion
Compared with ML models, LR model performed comparably to ML models in predicting depressive symptoms and identifying potential risk factors while also exhibiting a lower risk of overfitting.
8.Comparison of Logistic Regression and Machine Learning Approaches in Predicting Depressive Symptoms: A National-Based Study
Xing-Xuan DONG ; Jian-Hua LIU ; Tian-Yang ZHANG ; Chen-Wei PAN ; Chun-Hua ZHAO ; Yi-Bo WU ; Dan-Dan CHEN
Psychiatry Investigation 2025;22(3):267-278
Objective:
Machine learning (ML) has been reported to have better predictive capability than traditional statistical techniques. The aim of this study was to assess the efficacy of ML algorithms and logistic regression (LR) for predicting depressive symptoms during the COVID-19 pandemic.
Methods:
Analyses were carried out in a national cross-sectional study involving 21,916 participants. The ML algorithms in this study included random forest (RF), support vector machine (SVM), neural network (NN), and gradient boosting machine (GBM) methods. The performance indices were sensitivity, specificity, accuracy, precision, F1-score, and area under the receiver operating characteristic curve (AUC).
Results:
LR and NN had the best performance in terms of AUCs. The risk of overfitting was found to be negligible for most ML models except for RF, and GBM obtained the highest sensitivity, specificity, accuracy, precision, and F1-score. Therefore, LR, NN, and GBM models ranked among the best models.
Conclusion
Compared with ML models, LR model performed comparably to ML models in predicting depressive symptoms and identifying potential risk factors while also exhibiting a lower risk of overfitting.
9.Comparison of Logistic Regression and Machine Learning Approaches in Predicting Depressive Symptoms: A National-Based Study
Xing-Xuan DONG ; Jian-Hua LIU ; Tian-Yang ZHANG ; Chen-Wei PAN ; Chun-Hua ZHAO ; Yi-Bo WU ; Dan-Dan CHEN
Psychiatry Investigation 2025;22(3):267-278
Objective:
Machine learning (ML) has been reported to have better predictive capability than traditional statistical techniques. The aim of this study was to assess the efficacy of ML algorithms and logistic regression (LR) for predicting depressive symptoms during the COVID-19 pandemic.
Methods:
Analyses were carried out in a national cross-sectional study involving 21,916 participants. The ML algorithms in this study included random forest (RF), support vector machine (SVM), neural network (NN), and gradient boosting machine (GBM) methods. The performance indices were sensitivity, specificity, accuracy, precision, F1-score, and area under the receiver operating characteristic curve (AUC).
Results:
LR and NN had the best performance in terms of AUCs. The risk of overfitting was found to be negligible for most ML models except for RF, and GBM obtained the highest sensitivity, specificity, accuracy, precision, and F1-score. Therefore, LR, NN, and GBM models ranked among the best models.
Conclusion
Compared with ML models, LR model performed comparably to ML models in predicting depressive symptoms and identifying potential risk factors while also exhibiting a lower risk of overfitting.
10.Comparison of Logistic Regression and Machine Learning Approaches in Predicting Depressive Symptoms: A National-Based Study
Xing-Xuan DONG ; Jian-Hua LIU ; Tian-Yang ZHANG ; Chen-Wei PAN ; Chun-Hua ZHAO ; Yi-Bo WU ; Dan-Dan CHEN
Psychiatry Investigation 2025;22(3):267-278
Objective:
Machine learning (ML) has been reported to have better predictive capability than traditional statistical techniques. The aim of this study was to assess the efficacy of ML algorithms and logistic regression (LR) for predicting depressive symptoms during the COVID-19 pandemic.
Methods:
Analyses were carried out in a national cross-sectional study involving 21,916 participants. The ML algorithms in this study included random forest (RF), support vector machine (SVM), neural network (NN), and gradient boosting machine (GBM) methods. The performance indices were sensitivity, specificity, accuracy, precision, F1-score, and area under the receiver operating characteristic curve (AUC).
Results:
LR and NN had the best performance in terms of AUCs. The risk of overfitting was found to be negligible for most ML models except for RF, and GBM obtained the highest sensitivity, specificity, accuracy, precision, and F1-score. Therefore, LR, NN, and GBM models ranked among the best models.
Conclusion
Compared with ML models, LR model performed comparably to ML models in predicting depressive symptoms and identifying potential risk factors while also exhibiting a lower risk of overfitting.


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