1.Analysis of Cardiac Involvement in Patients With Fabry Disease in Anhui Region
Zhiquan LIU ; Qi WANG ; Kui MAO ; Xueping WEI ; Guohong WU ; Jia LIU ; Wei WEN ; Fei YU ; Hao SU ; Ji YAN ; Dongmei YANG ; Kangyu CHEN
Chinese Circulation Journal 2025;40(6):597-604
Objectives:To analyze the cardiac involvement of patients with Fabry disease(FD)in Anhui region.Methods:This retrospective analysis included 48 previously and currently diagnosed FD patients(25 males)in Anhui region,overall patient and gender specific cardiac involvement was analyzed.Results:The median age of FD patients is 28.0(19.0,46.0)years.The cardiac manifestations of patients with FD were most commonly characterized by palpitations/arrhythmias(13/42 cases)and exertional dyspnea(11/42 cases),electrocardiographic changes were most commonly characterized by T-wave inversion(22/42 cases),ST-segment depression(16/42 cases),and left ventricular hypervoltage(18/42 cases),cardiac structural and functional changes were most common in papillary muscle hypertrophy(29/36 cases),bilateral sign(22/37 cases)and left ventricular hypertrophy(21/46 cases),as well as reduced left ventricular global longitudinal strain(26/39 cases).Neuropathic pain(28/43 cases)was the most common extracardiac manifestation of FD patients.FD patients of different gender differed in age at diagnosis(P=0.018),alpha galactosidase A activity(P<0.001),globotriaosylsphingosine(lyso-GL3)levels(P<0.001),enzyme replacement therapy rate(P=0.043),dyshidrosis(P<0.01),and the incidence of angiokeratoma(P=0.004).Correlation analysis showed that genotype was not correlated with enzyme activity or Lyso-GL-3 levels,whereas the Sokolow-Lyon index was positively correlated with Lyso-GL-3 levels(ρ=0.423,P=0.008),and the Sokolow-Lyon indices(septal thickness:ρ=0.562,P<0.001;left ventricle posterior wall thickness:ρ=0.569,P<0.001)and QRS duration(septal thickness:ρ=0.543,P<0.001;left ventricle posterior wall thickness:ρ=0.557,P<0.001)were positively correlated with left ventricular wall thickness.Conclusions:Cardiac involvement in patients with FD in the Anhui region is characterised by palpitations or arrhythmias,accompanied by nonspecific electrocardiographic changes.Echocardiography frequently reveals papillary muscle hypertrophy.The manifestation of cardiac involvement in patients of different genders is similar.
2.Electrophysiological characteristics and gene analysis of children with congenital stationary night blindness without fundus abnormalities
Dongmei QI ; Shujia HUO ; Xu ZHOU ; Tao YU
Journal of Army Medical University 2025;47(20):2540-2547
Objective To analyze the electrophysiological and genetic examination results of children with congenital stationary night blindness(CSNB)without fundus abnormalities.Methods A retrospective study was conducted on 11 children diagnosed with CSNB in our department from August 2019 to March 2025.Their full-field electroretinogram(ffERG)and the results of genetic testing were analyzed.Results Among the 11 patients,there were 10 males and 1 female,at a mean age of 7.5±2.1 years.In the optometry,1 patient had hyperopia and the other had myopia,and all of them obtained a corrected visual acuity of 0.48±0.11 after wearing glasses.In fundus photography examination,except for the leopard pattern changes in high myopia,no obvious abnormalities were found in the remaining fundus.In ffERG examination for all patients,the amplitude of the a-wave of scotopic ERG 3.0/10.0 was normal or slightly to moderately decreased,the amplitude of the b-wave was decreased significantly,and the amplitude ratio of the b-wave to the a-wave was<1,showing a negative-phase wave,which belonged to the CSNB Schubert-Bornschein waveform.The results of genetic test revealed that all the 11 patients carried pathogenic mutations,including 6 cases with CACNA1F mutations,2 cases with GPR179 mutations,2 cases with NYX mutations,and 1 case with GRM6 mutation.Conclusion For children with normal fundus manifestations but corrected visual acuity lower than normal after wearing glasses,ffERG examination should be carried out as soon as possible to screen for CSNB,and a diagnosis should be made in combination with genetic testing.This is helpful for evaluating the heredity and prognosis of the disease,increasing the chance of early detection,and reducing excessive amblyopia training and treatment.
3.Practical exploration of empowering Medical Immunology teaching with digital intelligence
Haiying FU ; Dongmei YAN ; Weihua NI ; Yan QI ; Dong LI ; Jinying XU ; Hongyan YUAN ; Wei YANG
Chinese Journal of Immunology 2025;41(6):1286-1289,中插1,1293
With the rapid development of artificial intelligence(AI),how to digitize the teaching of Medical Immunology is a new challenge posed by the times and education.This study is based on the advanced teaching model of Medical Immunology,which includes lectures-PAD class-flipped classrooms-expert lecture.By introducing knowledge mapping and AI teaching assistant into the entire learning process,the students not only deepen their understanding of the knowledge system of Medical Immunology,but also ex-ercise their ability to apply immunological knowledge to solve practical clinical problems,enhance their self-learning ability,expres-sion ability,communication ability,on-site performance ability,and cultivate a spirit of unity,cooperation,and exploration.The practice of empowering Medical Immunology teaching with digital intelligence achieves the integration of theory and application,the linkage between in class and out of class teaching,the connection between commonalities and individualities,and the union of abili-ties and qualities in Medical Immunology teaching.It also provides practical basis for exploring the implementation path of digital intel-ligence empowerment in Medical Immunology teaching.
4.Establishment and practice of scientific research project-based experimental system—exploration of"5+3"integration Medical Immunology experimental teaching
Haiying FU ; Yanling WANG ; Hongyan YUAN ; Dongmei YAN ; Weihua NI ; Yan QI ; Dong LI ; Xia CHEN ; Wei YANG
Chinese Journal of Immunology 2025;41(1):195-197,201
Theory and technology of Medical Immunology are widely used in scientific research.Our teaching and research group uses experimental teaching of Medical Immunology as a platform to carry out practice of scientific research project-based experi-mental system among"5+3"integration students.By completing a mini-project research including experimental design-experimental operation-research article writing,students cultivated scientific research thinking and exercised scientific research practice ability,and generally reported that the course is very difficult,but after completing it,it is very rewarding.
5.Analysis of the Application and Funding Status of the Traditional Chinese Medicine Pediatric(H3112)Projects under the Na-tional Natural Science Foundation of China from 2014 to 2023
Jichao SUN ; Dongmei ZHANG ; Xing LIAO ; Xuguang YANG ; Jia LI ; Yang WANG ; Runzhi QI ; Minggang BI
Journal of Nanjing University of Traditional Chinese Medicine 2025;41(1):135-140
This study retrospectively reviews and analyzes the application and funding status of traditional Chinese medicine pediat-rics(code H3112)projects under the National Natural Science Foundation of China(NSFC)from 2014 to 2023.It introduces the ap-plication and funding situations of projects in three categories:general programs,young scientists programs,and regional fund programs.The study also summarizes the characteristics of funded projects in the field of traditional Chinese medicine pediatrics,ai-ming to provide references for researchers and clinical professionals in this field when applying for future projects.
6.Clinical significance of circular RNA circ-PHC3 expression in cervical cancer tissues and its effects on the proliferation,migration and invasion of cervical cancer cells
Dongmei FANG ; Yuanyuan QI ; Chunjing CAO ; Fang WANG ; Mingze LI
The Journal of Practical Medicine 2025;41(20):3145-3154
Objective To investigate the expression of the circular RNA circ-PHC3 in cervical cancer tissues and its regulatory mechanisms in the proliferation,migration,and invasion of cervical cancer cells.Methods The expression levels of circ-PHC3 in cervical cancer tissues and adjacent non-tumor tissues were analyzed using the GEO database.The correlation between circ-PHC3 expression and the clinical stage as well as prognosis of cervical cancer patients was also evaluated.The expression of circ-PHC3 in cervical cancer cell lines HCC94,C33A,HeLa,HCC1106,and SiHa was detected by real-time quantitative polymerase chain reaction(qRT-PCR).The cell line with the highest circ-PHC3 expression was selected for transfection with a circ-PHC3 inhibitor.The interaction between circ-PHC3 and miR-1179 was validated using a dual luciferase reporter gene assay.The expression levels of miR-1179 in transfected cells were further assessed by qRT-PCR.Functional assays,including colony formation,flow cytometry,wound healing,and Transwell assays,were conducted to evaluate cell proliferation,cell cycle progression,migration,and invasion,respectively.Western blot analysis was performed to determine the expression of key proteins associated with proliferation,migration,and invasion in circ-PHC3-modulated cells.Finally,in vivo experiments were carried out to investigate the impact of circ-PHC3 silencing on the growth and metastasis of cervical cancer cells in animal models.Results The expression level of circ-PHC3 in cervical cancer tissues was significantly higher than that in adjacent normal tissues(P<0.01).Furthermore,circ-PHC3 expression was significantly associated with the clinical stage of cervical cancer(P<0.01).Patients with high circ-PHC3 expression exhibited a notably lower survival rate compared to those with low circ-PHC3 expression(P<0.01).In cervical cancer cell lines including HCC94,C33A,HeLa,HCC1106,and SiHa,circ-PHC3 expression was markedly upregulated(all P<0.01),with the highest expression observed in HCC1106 cells(P<0.01).Circ-PHC3 was found to directly interact with miR-1179(P<0.01),and silencing circ-PHC3 significantly increased miR-1179 expression(P<0.01).Transfection of HCC1106 cells with a circ-PHC3 inhibitor significantly suppressed cell proliferation,migration,and invasion(all P<0.01),and induced cell cycle arrest(P<0.01);these effects were partially reversed by co-transfection with a miR-1179 inhibitor(all P<0.05).In HCC1106 cells with circ-PHC3 knockdown,the expression levels of key proteins associated with proliferation,migration,and invasion—Cyclin E,CDK2,MMP-9,and N-cadherin—were significantly reduced(all P<0.01),and this reduction was partially attenuated by miR-1179 inhibition(all P<0.01).In vivo experiments further demonstrated that circ-PHC3 knockdown significantly inhibited tumor growth and metastasis of HCC1106 cells(all P<0.01).Conclusions Circ-PHC3 is highly expressed in cervical cancer tissues,and its overexpression is significantly correlated with poor prognosis in patients with cervical cancer.Knockdown of circ-PHC3 upregulates the expression of miR-1179 and suppresses the proliferation,migration,and invasion of cervical cancer cells.
7.Screening and analysis of key genes in alkali burn-induced corneal injury in rabbits:based on transcriptomic and bioinformatic technologies
Jialin LIU ; Xinrong ZHAO ; Dongmei CHEN ; Yun HUA ; Siyao ZHANG ; Yan CHANG ; Lu QI
Recent Advances in Ophthalmology 2025;45(10):769-775
Objective To screen and analyze key genes in rabbit corneal alkali burns based on transcriptomics se-quencing technology and bioinformatics techniques.Methods Thirty healthy male New Zealand rabbits were randomly di-vided into 2 groups(n=15 per group):The control group received no intervention,while the alkali burn group underwent corneal alkali burn modeling.Histological evaluation of corneal tissues was performed via hematoxylin-eosin(HE)stai-ning.Transcriptome sequencing was conducted for library construction and sequencing.Differentially expressed genes(DEGs)were identified using DESeq2,followed by Gene Ontology(GO)functional enrichment analysis and Kyoto Ency-clopedia of Genes and Genomes(KEGG)pathway analysis.A protein-protein interaction(PPI)network was constructed to screen hub genes,and RT-PCR was employed to validate mRNA expression levels of key genes.Results HE staining revealed orderly arranged corneal stromal layers and scattered stromal cells in the control group,whereas the alkali burn group exhibited stromal edema,thickened collagen fibers with loose/disorganized alignment,and increased fibroblast and inflammatory cell infiltration.Compared to the control group,1 827 significant DEGs were identified in the alkali burn group,including 1 495 upregulated and 332 downregulated genes.GO analysis showed biological processes such as immune response,plasma membrane,and identical protein binding.KEGG analysis indicated that DEGs were enriched in pathways related to cancer,lipid and atherosclerosis,and neuroactive ligand-receptor interaction.The PPI network screened 11 key genes:neutrophil cytosolic factor 1(NCF1),neutrophil cytosolic factor 2(NCF2),matrix metallopeptidase 2(MMP2),ma-trix metallopeptidase 9(MMP9),interleukin-1α(IL-1α),interleukin-1β(IL-1β),interleukin-6(IL-6),interleukin-8(CXCL8),cluster of differentiation 4(CD4),C-C motif ligand 2(CCL2)and tumor necrosis factor(TNF).RT-PCR valida-tion revealed that the mRNA expression levels of key genes in the corneal tissues of the alkali burn group were significantly higher than those in the control group(all P<0.05),consistent with the transcriptomic sequencing results.Conclusion Based on the rabbit corneal alkali burn model,this study identified 11 key genes(NCF1,NCF2,MMP2,MMP9,IL-1α,IL-1β,IL-6,CXCL8,CD4,CCL2 and TNF)through transcriptomics and bioinformatics analysis.
8.Clinical significance of circular RNA circ-PHC3 expression in cervical cancer tissues and its effects on the proliferation,migration and invasion of cervical cancer cells
Dongmei FANG ; Yuanyuan QI ; Chunjing CAO ; Fang WANG ; Mingze LI
The Journal of Practical Medicine 2025;41(20):3145-3154
Objective To investigate the expression of the circular RNA circ-PHC3 in cervical cancer tissues and its regulatory mechanisms in the proliferation,migration,and invasion of cervical cancer cells.Methods The expression levels of circ-PHC3 in cervical cancer tissues and adjacent non-tumor tissues were analyzed using the GEO database.The correlation between circ-PHC3 expression and the clinical stage as well as prognosis of cervical cancer patients was also evaluated.The expression of circ-PHC3 in cervical cancer cell lines HCC94,C33A,HeLa,HCC1106,and SiHa was detected by real-time quantitative polymerase chain reaction(qRT-PCR).The cell line with the highest circ-PHC3 expression was selected for transfection with a circ-PHC3 inhibitor.The interaction between circ-PHC3 and miR-1179 was validated using a dual luciferase reporter gene assay.The expression levels of miR-1179 in transfected cells were further assessed by qRT-PCR.Functional assays,including colony formation,flow cytometry,wound healing,and Transwell assays,were conducted to evaluate cell proliferation,cell cycle progression,migration,and invasion,respectively.Western blot analysis was performed to determine the expression of key proteins associated with proliferation,migration,and invasion in circ-PHC3-modulated cells.Finally,in vivo experiments were carried out to investigate the impact of circ-PHC3 silencing on the growth and metastasis of cervical cancer cells in animal models.Results The expression level of circ-PHC3 in cervical cancer tissues was significantly higher than that in adjacent normal tissues(P<0.01).Furthermore,circ-PHC3 expression was significantly associated with the clinical stage of cervical cancer(P<0.01).Patients with high circ-PHC3 expression exhibited a notably lower survival rate compared to those with low circ-PHC3 expression(P<0.01).In cervical cancer cell lines including HCC94,C33A,HeLa,HCC1106,and SiHa,circ-PHC3 expression was markedly upregulated(all P<0.01),with the highest expression observed in HCC1106 cells(P<0.01).Circ-PHC3 was found to directly interact with miR-1179(P<0.01),and silencing circ-PHC3 significantly increased miR-1179 expression(P<0.01).Transfection of HCC1106 cells with a circ-PHC3 inhibitor significantly suppressed cell proliferation,migration,and invasion(all P<0.01),and induced cell cycle arrest(P<0.01);these effects were partially reversed by co-transfection with a miR-1179 inhibitor(all P<0.05).In HCC1106 cells with circ-PHC3 knockdown,the expression levels of key proteins associated with proliferation,migration,and invasion—Cyclin E,CDK2,MMP-9,and N-cadherin—were significantly reduced(all P<0.01),and this reduction was partially attenuated by miR-1179 inhibition(all P<0.01).In vivo experiments further demonstrated that circ-PHC3 knockdown significantly inhibited tumor growth and metastasis of HCC1106 cells(all P<0.01).Conclusions Circ-PHC3 is highly expressed in cervical cancer tissues,and its overexpression is significantly correlated with poor prognosis in patients with cervical cancer.Knockdown of circ-PHC3 upregulates the expression of miR-1179 and suppresses the proliferation,migration,and invasion of cervical cancer cells.
9.Analysis of Cardiac Involvement in Patients With Fabry Disease in Anhui Region
Zhiquan LIU ; Qi WANG ; Kui MAO ; Xueping WEI ; Guohong WU ; Jia LIU ; Wei WEN ; Fei YU ; Hao SU ; Ji YAN ; Dongmei YANG ; Kangyu CHEN
Chinese Circulation Journal 2025;40(6):597-604
Objectives:To analyze the cardiac involvement of patients with Fabry disease(FD)in Anhui region.Methods:This retrospective analysis included 48 previously and currently diagnosed FD patients(25 males)in Anhui region,overall patient and gender specific cardiac involvement was analyzed.Results:The median age of FD patients is 28.0(19.0,46.0)years.The cardiac manifestations of patients with FD were most commonly characterized by palpitations/arrhythmias(13/42 cases)and exertional dyspnea(11/42 cases),electrocardiographic changes were most commonly characterized by T-wave inversion(22/42 cases),ST-segment depression(16/42 cases),and left ventricular hypervoltage(18/42 cases),cardiac structural and functional changes were most common in papillary muscle hypertrophy(29/36 cases),bilateral sign(22/37 cases)and left ventricular hypertrophy(21/46 cases),as well as reduced left ventricular global longitudinal strain(26/39 cases).Neuropathic pain(28/43 cases)was the most common extracardiac manifestation of FD patients.FD patients of different gender differed in age at diagnosis(P=0.018),alpha galactosidase A activity(P<0.001),globotriaosylsphingosine(lyso-GL3)levels(P<0.001),enzyme replacement therapy rate(P=0.043),dyshidrosis(P<0.01),and the incidence of angiokeratoma(P=0.004).Correlation analysis showed that genotype was not correlated with enzyme activity or Lyso-GL-3 levels,whereas the Sokolow-Lyon index was positively correlated with Lyso-GL-3 levels(ρ=0.423,P=0.008),and the Sokolow-Lyon indices(septal thickness:ρ=0.562,P<0.001;left ventricle posterior wall thickness:ρ=0.569,P<0.001)and QRS duration(septal thickness:ρ=0.543,P<0.001;left ventricle posterior wall thickness:ρ=0.557,P<0.001)were positively correlated with left ventricular wall thickness.Conclusions:Cardiac involvement in patients with FD in the Anhui region is characterised by palpitations or arrhythmias,accompanied by nonspecific electrocardiographic changes.Echocardiography frequently reveals papillary muscle hypertrophy.The manifestation of cardiac involvement in patients of different genders is similar.
10.Practical exploration of empowering Medical Immunology teaching with digital intelligence
Haiying FU ; Dongmei YAN ; Weihua NI ; Yan QI ; Dong LI ; Jinying XU ; Hongyan YUAN ; Wei YANG
Chinese Journal of Immunology 2025;41(6):1286-1289,中插1,1293
With the rapid development of artificial intelligence(AI),how to digitize the teaching of Medical Immunology is a new challenge posed by the times and education.This study is based on the advanced teaching model of Medical Immunology,which includes lectures-PAD class-flipped classrooms-expert lecture.By introducing knowledge mapping and AI teaching assistant into the entire learning process,the students not only deepen their understanding of the knowledge system of Medical Immunology,but also ex-ercise their ability to apply immunological knowledge to solve practical clinical problems,enhance their self-learning ability,expres-sion ability,communication ability,on-site performance ability,and cultivate a spirit of unity,cooperation,and exploration.The practice of empowering Medical Immunology teaching with digital intelligence achieves the integration of theory and application,the linkage between in class and out of class teaching,the connection between commonalities and individualities,and the union of abili-ties and qualities in Medical Immunology teaching.It also provides practical basis for exploring the implementation path of digital intel-ligence empowerment in Medical Immunology teaching.

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