1.Association between photoreceptor gene mutation-caused diseases and myopia
Yunqing LIANG ; Jiali LI ; Shanshan LIU ; Xiaohe LU
International Eye Science 2026;26(3):452-457
Myopia has become a significant eye health problem, which is thought to result from the complex interactions of genetic and environmental factors. This review focuses on two types of hereditary retinal diseases caused by mutations in photoreceptor genes, including rod-cone cell dystrophy(retinitis pigmentosa)and cone dysfunction syndromes(achromatopsia, blue cone monochromatism and Bornholm eye disease). It systematically explores the intrinsic connection between these diseases and the myopia phenotype, and elaborates on the core mechanisms by which pathogenic genes such as RPGR and OPN1LW/OPN1MW, which cause defects in ciliary structure and protein transport and interfere with the visual signal pathway, jointly induce choroidal thinning and scleral remodeling, ultimately driving the elongation of axial length and the occurrence of myopia. By tracing the association of photoreceptor gene mutations with myopia, this article provides a new perspective for in-depth understanding of the genetic mechanism of myopia and is of great significance for the development of early risk warning and targeted intervention strategies.
2.Integrated evidence chain (Eff-iEC) based effectiveness evaluation of a multifunctional traditional Chinese medicine formula: Taking Xiaoyao San as an example
Caiping HE ; Ye LUO ; Zhiqi LI ; Haocheng YANG ; Lu LIU ; Yingjie XU ; Xiaoyan CHEN ; Siqi HUANG ; Jincai WEN ; Xiaoyan ZHAN ; Zhaofang BAI ; Xu ZHAO ; Xiaohe XIAO
Science of Traditional Chinese Medicine 2026;4(1):96-103
The study focuses on the concept of multifunctional traditional Chinese medicine (TCM) formulas and aims to evaluate the efficacy of the classical formula Xiaoyao San (逍遥散). Study employs the integrated evidence chain (Eff-iEC) method to organize, integrate, and evaluate its therapeutic efficacy in treating different diseases with the same therapy, and to investigate the feasibility of using Eff-iEC to evaluate the multifunctionality of TCM formulas. The evaluation covered Xiaoyao San's therapeutic effects on depression, premenstrual syndrome, chronic hepatitis, irritable bowel syndrome, dyspepsia, and menopausal syndrome. Concurrently, the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system was used for evaluation, and authoritative medical documents were incorporated to corroborate the recognition of Xiaoyao San within the medical community. Depression and menopausal syndrome received higher ratings than other conditions in the Eff-iEC, GRADE, and Medical Community Recognition assessments. The Eff-iEC evidence grade for Xiaoyao San was rated as "High" or above for chronic hepatitis, irritable bowel syndrome, dyspepsia, and menopausal syndrome. Premenstrual syndrome received a "Moderate +" rating. The GRADE evidence level was "Low-〇〇⨁⨁" for depression, premenstrual syndrome, and chronic hepatitis; "Moderate-〇⨁⨁⨁" for dyspepsia and menopausal syndrome; and "Very Low-〇〇〇⨁" for irritable bowel syndrome. Depression and menopausal syndrome had the highest inclusion frequency, appearing in all 4 categories. Premenstrual syndrome, chronic hepatitis, and dyspepsia are not recommended in Western medical guidelines, but they are included in TCM guidelines, the China National Basic Medical Insurance Drug List, and the China National Essential Drug List. Irritable bowel syndrome appears only in the China National Basic Medical Insurance Drug List and China National Essential Drug List. The evaluation results obtained using the Eff-iEC method align with Medical Community Recognition, providing an objective and comprehensive assessment of Xiaoyao San's efficacy. The findings suggest that Xiaoyao San has strong evidence for treating depression and menopausal syndrome. However, further experimental and clinical trials are needed to assess its efficacy in treating premenstrual syndrome, chronic hepatitis, irritable bowel syndrome, and dyspepsia. These results support the clinical efficacy and rational use of Xiaoyao San, expand the application scope of the Eff-iEC method, and offer valuable insights and methodological references for the comparative evaluation of multifunctional TCM formulas.
3.Effect of Tongxinluo Capsules on TCM Syndrome Elements in Patients with Chronic Coronary Syndrome of Qi Deficiency and Blood Stasis Type: A Multicenter and Prospective Cohort Study
Jia WANG ; Xilun TAN ; Xuesen WANG ; Xiaohe YANG ; Meili GAO ; Yiying LIU ; Chenhao ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(13):170-177
ObjectiveTo investigate the effects of Tongxinluo capsules on traditional Chinese medicine (TCM) syndrome elements and major adverse cardiovascular events (MACEs) in patients with chronic coronary syndrome of Qi deficiency and blood stasis type. MethodsA multicenter and prospective cohort study was conducted. The intervention of Tongxinluo Capsules was used as the exposure factor, and the patients were divided into an exposure group (integrated traditional Chinese and western medicine treatment group) and a non-exposure group (western medicine treatment group). The patients were followed up for one year. The TCM syndrome element scores were assessed by using a syndrome element diagnosis scale on the day of enrollment and in the third, sixth, and twelfth months, and the incidence of MACE within one year was recorded. ResultsA total of 186 patients were included, with 128 patients in the exposure group and 58 patients in the non-exposure group. There was no significant difference in baseline data between the two groups. Compared with those in the pretreatment period for each group, the Qi deficiency and blood stasis syndrome scores in the treatment and follow-up period were significantly improved (P<0.05). Compared with the non-exposure group, the exposure group exhibited significantly decreased Qi deficiency syndrome scores in the treatment and follow-up period (P<0.01) and significantly reduced blood stasis syndrome scores in the sixth month (P<0.05). In the remaining follow-up period, there was no statistically significant difference between the two groups. Compared with that of the non-exposure group, during the treatment period (the third month), the difference in Qi deficiency and blood stasis syndrome scores of the exposure group was statistically significant (P<0.05, P<0.01). At the end of the follow-up period, patients in the non-exposure group had a MACE probability of 6.90% (4/58), higher than 3.13% in the exposure group (4/58). Compared with patients with angina pectoris who used conventional medicine, patients administered with Tongxinluo Capsules had a relative risk(RR) of 0.45 [95%confidence interval(95%CI) 0.12-1.75, P=0.26]. There was no significant difference in the incidence of MACE within one year between the two groups. ConclusionTongxinluo capsules can improve the degree of Qi deficiency in patients with chronic coronary syndrome in the short term, and the improvement effect of blood stasis syndrome appears in the medium and long term. They can better improve the Qi deficiency syndrome in the long term. Within one year, the incidence of MACE in the exposure group was lower than that in the non-exposure group.
4.Effect of Tongxinluo Capsules on TCM Syndrome Elements in Patients with Chronic Coronary Syndrome of Qi Deficiency and Blood Stasis Type: A Multicenter and Prospective Cohort Study
Jia WANG ; Xilun TAN ; Xuesen WANG ; Xiaohe YANG ; Meili GAO ; Yiying LIU ; Chenhao ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(13):170-177
ObjectiveTo investigate the effects of Tongxinluo capsules on traditional Chinese medicine (TCM) syndrome elements and major adverse cardiovascular events (MACEs) in patients with chronic coronary syndrome of Qi deficiency and blood stasis type. MethodsA multicenter and prospective cohort study was conducted. The intervention of Tongxinluo Capsules was used as the exposure factor, and the patients were divided into an exposure group (integrated traditional Chinese and western medicine treatment group) and a non-exposure group (western medicine treatment group). The patients were followed up for one year. The TCM syndrome element scores were assessed by using a syndrome element diagnosis scale on the day of enrollment and in the third, sixth, and twelfth months, and the incidence of MACE within one year was recorded. ResultsA total of 186 patients were included, with 128 patients in the exposure group and 58 patients in the non-exposure group. There was no significant difference in baseline data between the two groups. Compared with those in the pretreatment period for each group, the Qi deficiency and blood stasis syndrome scores in the treatment and follow-up period were significantly improved (P<0.05). Compared with the non-exposure group, the exposure group exhibited significantly decreased Qi deficiency syndrome scores in the treatment and follow-up period (P<0.01) and significantly reduced blood stasis syndrome scores in the sixth month (P<0.05). In the remaining follow-up period, there was no statistically significant difference between the two groups. Compared with that of the non-exposure group, during the treatment period (the third month), the difference in Qi deficiency and blood stasis syndrome scores of the exposure group was statistically significant (P<0.05, P<0.01). At the end of the follow-up period, patients in the non-exposure group had a MACE probability of 6.90% (4/58), higher than 3.13% in the exposure group (4/58). Compared with patients with angina pectoris who used conventional medicine, patients administered with Tongxinluo Capsules had a relative risk(RR) of 0.45 [95%confidence interval(95%CI) 0.12-1.75, P=0.26]. There was no significant difference in the incidence of MACE within one year between the two groups. ConclusionTongxinluo capsules can improve the degree of Qi deficiency in patients with chronic coronary syndrome in the short term, and the improvement effect of blood stasis syndrome appears in the medium and long term. They can better improve the Qi deficiency syndrome in the long term. Within one year, the incidence of MACE in the exposure group was lower than that in the non-exposure group.
5.Study on Common TCM Syndromes of Colorectal Cancer Based on Latent Structure Model Combined with Clustering Analysis
Shuoqi ZHAO ; Yuan YAO ; Xiaohe SUN ; Liu LI ; Haibo CHENG
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(4):51-57
Objective To explore the distribution characteristics of common TCM syndromes in colorectal cancer;To provide a basis for standardized research on syndrome of colorectal cancer.Methods The literature related to TCM syndromes of colorectal cancer was retrieved from CNKI,Wanfang Data,VIP and SinoMed.Information on syndrome types and symptoms was extracted to establish a traditional Chinese medicine syndrome database for colorectal cancer.Frequency statistics were used to analyze distribution of colorectal cancer syndrome types and their symptom characteristics.Lantern 5.0 software was used to establish a latent structure model based on the LTM-EAS algorithm,and factor analysis and systematic clustering analysis were conducted using SPSS 27.0 software to infer potential patterns.Based on the results of comprehensive frequency statistics,systematic clustering and latent structure analysis,common TCM syndrome types and symptom characteristics of colorectal cancer were obtained.Results A total of 929 articles were included,totaling 2 465 syndrome items,involving 97 syndrome types,with high frequency of qi-blood deficiency syndrome,dampness and heat accumulation syndrome,spleen-kidney yang deficiency syndrome,etc.,and 281 symptoms,including abdominal distension,anorexia,abdominal pain and mental fatigue,etc.The latent structure analysis obtained 23 hidden variables,and 8 common syndromes were obtained according to professional knowledge.Factor analysis obtained 17 common factors,and further systematic cluster analysis inferred 9 potential syndrome types.Conclusion Common syndrome of colorectal cancer can be divided into 9 types,which are dampness and heat accumulation syndrome,blood stasis toxicity internal obstruction syndrome,qi stagnation and blood stasis syndrome,dampness and heat stasis toxicity syndrome,spleen deficiency and phlegm-dampness syndrome,spleen qi deficiency syndrome,qi and blood deficiency syndrome,liver-kidney yin deficiency syndrome,and spleen-kidney yang deficiency syndrome.The symptom characteristics of each syndrome are significant,which can provide reference for clinical differentiation and lay foundation for standardized research on syndrome.
6.Biomechanical characteristics of different orthopedic modalities for adolescent idiopathic scoliosis based on finite element simulation analysis
Bo YUE ; Zhenhua CAO ; Yunfeng ZHANG ; Yangyang XU ; Feng JIN ; Baoke SU ; Lidong WANG ; Xing WANG ; Ling TONG ; Qinghua LIU ; Yuan FANG ; Lirong SHA ; Haiyan WANG ; Xiaohe LI ; Zhijun LI
Chinese Journal of Tissue Engineering Research 2025;29(15):3129-3137
BACKGROUND:The asymmetrical biomechanical environment of adolescent idiopathic scoliosis can lead to further wedge deformation of the vertebral body,which may affect cardiopulmonary function and compress nerves in severe cases.Adolescent idiopathic scoliosis with different degrees of scoliosis should be treated with exercise,bracing,and surgery.However,the mechanical mechanism of selecting an orthopedic approach remains unclear due to the individual variability of patients.OBJECTIVE:To investigate the biomechanical mechanism of different orthopedic modalities for the treatment of adolescent idiopathic scoliosis to provide a basis for clinical selection of treatment modalities based on the spine model of adolescent idiopathic scoliosis patients.METHODS:Based on the CT images of an adolescent idiopathic scoliosis patient,a scoliosis model(C7-L5)was reconstructed in Mimics software in three dimensions,and lateral thrust force was applied at the T8/T9 thorax and vertical distraction force was applied over the C7 vertebra with the magnitude of 20,40,60,80,100,and 120 N.The intervertebral disc stress and vertebral displacement in concave and convex sides,and Cobb angle of the spine were analyzed under two orthopedic modalities.RESULTS AND CONCLUSION:(1)With lateral thrust,there was no significant change in the C7T1-T7T8 intervertebral disc.The concave and convex stress of T7T8-L4L5 segment decreased first and then increased with the increase of lateral thrust force.The correction effect of lateral thrust on the segment near T8T9 was obvious and weakened with the extension of the segment to the cephalic and caudal ends.At 120 N of lateral thrust,the thoracic Cobb angle changed from 53.2° to 32.5° and the lumbar Cobb angle changed from 50.2° to 43.9°.(2)With the vertical distraction,the thoracic intervertebral disc stresses first decreased and then increased,and all the lumbar disc stresses decreased.The C7 displacement was the most obvious,and the correction effect gradually diminished with the segment extended to the caudal end.At a vertical distraction force of 120 N,the thoracic Cobb angle changed from 53.2° to 39.4° and the lumbar Cobb angle changed from 50.2° to 47.6°.(3)It is concluded that both orthopedic modalities provide improvement in the degree of scoliosis,with the thoracic correction being greater than the lumbar correction.Also,the asymmetric stress distribution on the concave and convex sides is improved,which contributes to normal bone growth.A vertical distraction approach is appropriate for larger Cobb angles,and a lateral thrust approach is appropriate for smaller Cobb angles.The results of this study help to understand the mechanism of spinal orthosis and provide a theoretical basis for the choice of orthopedic approach.
7.Msx2 regulates differentiation of outer enamel epithelial cells by modu-lating cytoskeleton and cell-cell interactions
Zhe YU ; Xiaohe JI ; Jingkun BAI ; Lihui ZHANG ; Juanjuan ZHANG ; Yan SUN ; Limei CHEN ; Xiaoying LIU
Chinese Journal of Pathophysiology 2025;41(3):555-561
AIM:To investigate the mechanism by which muscle segment homeobox 2(Msx2)regulates the differentiation of outer enamel epithelial cells in the enamel organ.METHODS:Tissue paraffin sections were prepared and subjected to hematoxylin-eosin(HE)staining to analyze the effect of Msx2 deficiency on the differentiation status of epithelial cells in the enamel organ at the morphological level.At the ultrastructural level,alterations in cell structure were analyzed.The intermediate steps mediating cell differentiation were identified.Transcriptome sequencing analysis was performed to validate the molecular mechanisms underlying the observed phenomena.RESULTS:Msx2 deficiency was innovatively found to induce severe squamous epithelial hyperplasia in outer enamel epithelial cells of enamel organ,accompanied by dynamic restructuring of the cell cytoskeleton and alterations in cell adhesion at the ultrastructure level.As a transcriptional repressor,the loss of Msx2 expression results in significant increases(P<0.05 or P<0.01)in the mRNA expression levels of integrin β2(Itgβ2),ItgαM,Itgα4,Rac family small GTPase 2(Rac2),Rac/Cdc42 guanine nucleo-tide exchange factor 6(Arhgef6)and protein tyrosine phosphatase receptor type C(Ptprc).CONCLUSION:Msx2 regu-lates cytoskeleton structure and cell-cell interaction through the Rho GTPases signaling pathway,thereby influencing the differentiation state of outer enamel epithelial cells.This study reveals the mechanism through which Msx2 regulates the differentiation of outer enamel epithelial cells,providing a theoretical foundation for the prevention and treatment of enam-el-related clinical dental diseases.
8.Mechanism of Mongolian medicine Echinops sphaerocephalus L.in proliferation and angiogenesis of vascular endothelial cells
Yuan FANG ; Zhiyong QIAN ; Yuanhada HE ; Haiyan WANG ; Lirong SHA ; Xiaohe LI ; Jing LIU ; Yachao HE ; Kai ZHANG ; TEMRIBAGEN
Chinese Journal of Tissue Engineering Research 2025;29(35):7519-7528
BACKGROUND:Mongolian medicine Echinops sphaerocephalus L.is a commonly used medicine for bone injury in Mongolian medicine.It is effective for tendon injury,fracture,bone nonunion,bone fever,tingling,sore and other diseases.Our previous studies have confirmed that Mongolian medicine Echinops sphaerocephalus L.can promote the proliferation and osteogenic differentiation of bone marrow mesenchymal stem cells,but its effect on angiogenesis in the process of bone defect repair is unknown.OBJECTIVE:To investigate the effect of Echinops sphaerocephalus L.on in vitro angiogenesis in human umbilical vein vascular endothelial cells and to explore the angiogenesis-promoting active ingredients and their mechanisms of action of Echinops sphaerocephalus L.using network pharmacology technology.METHODS:The ethanol extract of Echinops sphaerocephalus L.was prepared and preserved by freeze-drying.The proliferation,migration,chemotaxis and angiogenesis of human umbilical vein endothelial cells were observed after treatment with different concentrations(1 000,100,and 10 μg/mL)of Echinops sphaerocephalus L.The active components and possible signaling pathways that promoted angiogenesis were enriched and analyzed by network pharmacology.RESULTS AND CONCLUSION:(1)The effect of Echinops sphaerocephalus L.on angiogenesis was regulated by its mass concentration:at low mass concentration(10 μg/mL),Echinops sphaerocephalus L.could promote the proliferation,migration,chemotaxis and angiogenesis of human umbilical vein vascular endothelial cells;on the contrary,Echinops sphaerocephalus L.inhibited the proliferation,migration,and chemotaxis of human umbilical vein endothelial cells at high mass concentration(1 000 μg/mL).However,the inhibitory effect of Echinops sphaerocephalus L.on angiogenesis was not significant at high mass concentration due to the limitation of experimental time.10 μg/mL Echinops sphaerocephalus L.could up-regulate the mRNA expression of angiogenesis-associated factors,including kinase insert domain receptor,vascular endothelial growth factor A,and hypoxia-inducible factor α,and thereby influenced angiogenesis during bone repair.(2)Network pharmacological analyses indicated that Echinops sphaerocephalus L.may bind to eight core targets(TGFB1,TNF,IL-6,STAT3,CTNNB1,IL-1B,AKT1,and HIF-1A)through four core active components(apigenin,caffeic acid,quercetin,and chlorogenic acid)to exert an effect on angiogenesis,atherosclerosis,multiple viral infections,and tumor angiogenesis-related signaling pathways.
9.Msx2 regulates differentiation of outer enamel epithelial cells by modu-lating cytoskeleton and cell-cell interactions
Zhe YU ; Xiaohe JI ; Jingkun BAI ; Lihui ZHANG ; Juanjuan ZHANG ; Yan SUN ; Limei CHEN ; Xiaoying LIU
Chinese Journal of Pathophysiology 2025;41(3):555-561
AIM:To investigate the mechanism by which muscle segment homeobox 2(Msx2)regulates the differentiation of outer enamel epithelial cells in the enamel organ.METHODS:Tissue paraffin sections were prepared and subjected to hematoxylin-eosin(HE)staining to analyze the effect of Msx2 deficiency on the differentiation status of epithelial cells in the enamel organ at the morphological level.At the ultrastructural level,alterations in cell structure were analyzed.The intermediate steps mediating cell differentiation were identified.Transcriptome sequencing analysis was performed to validate the molecular mechanisms underlying the observed phenomena.RESULTS:Msx2 deficiency was innovatively found to induce severe squamous epithelial hyperplasia in outer enamel epithelial cells of enamel organ,accompanied by dynamic restructuring of the cell cytoskeleton and alterations in cell adhesion at the ultrastructure level.As a transcriptional repressor,the loss of Msx2 expression results in significant increases(P<0.05 or P<0.01)in the mRNA expression levels of integrin β2(Itgβ2),ItgαM,Itgα4,Rac family small GTPase 2(Rac2),Rac/Cdc42 guanine nucleo-tide exchange factor 6(Arhgef6)and protein tyrosine phosphatase receptor type C(Ptprc).CONCLUSION:Msx2 regu-lates cytoskeleton structure and cell-cell interaction through the Rho GTPases signaling pathway,thereby influencing the differentiation state of outer enamel epithelial cells.This study reveals the mechanism through which Msx2 regulates the differentiation of outer enamel epithelial cells,providing a theoretical foundation for the prevention and treatment of enam-el-related clinical dental diseases.
10.Study on Common TCM Syndromes of Colorectal Cancer Based on Latent Structure Model Combined with Clustering Analysis
Shuoqi ZHAO ; Yuan YAO ; Xiaohe SUN ; Liu LI ; Haibo CHENG
Chinese Journal of Information on Traditional Chinese Medicine 2025;32(4):51-57
Objective To explore the distribution characteristics of common TCM syndromes in colorectal cancer;To provide a basis for standardized research on syndrome of colorectal cancer.Methods The literature related to TCM syndromes of colorectal cancer was retrieved from CNKI,Wanfang Data,VIP and SinoMed.Information on syndrome types and symptoms was extracted to establish a traditional Chinese medicine syndrome database for colorectal cancer.Frequency statistics were used to analyze distribution of colorectal cancer syndrome types and their symptom characteristics.Lantern 5.0 software was used to establish a latent structure model based on the LTM-EAS algorithm,and factor analysis and systematic clustering analysis were conducted using SPSS 27.0 software to infer potential patterns.Based on the results of comprehensive frequency statistics,systematic clustering and latent structure analysis,common TCM syndrome types and symptom characteristics of colorectal cancer were obtained.Results A total of 929 articles were included,totaling 2 465 syndrome items,involving 97 syndrome types,with high frequency of qi-blood deficiency syndrome,dampness and heat accumulation syndrome,spleen-kidney yang deficiency syndrome,etc.,and 281 symptoms,including abdominal distension,anorexia,abdominal pain and mental fatigue,etc.The latent structure analysis obtained 23 hidden variables,and 8 common syndromes were obtained according to professional knowledge.Factor analysis obtained 17 common factors,and further systematic cluster analysis inferred 9 potential syndrome types.Conclusion Common syndrome of colorectal cancer can be divided into 9 types,which are dampness and heat accumulation syndrome,blood stasis toxicity internal obstruction syndrome,qi stagnation and blood stasis syndrome,dampness and heat stasis toxicity syndrome,spleen deficiency and phlegm-dampness syndrome,spleen qi deficiency syndrome,qi and blood deficiency syndrome,liver-kidney yin deficiency syndrome,and spleen-kidney yang deficiency syndrome.The symptom characteristics of each syndrome are significant,which can provide reference for clinical differentiation and lay foundation for standardized research on syndrome.

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