1.A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review
Min ZHAO ; Zhou SHU ; Tongxin HAN ; Yanhua FU ; Tianji GAO ; Huawei MAO
JOURNAL OF RARE DISEASES 2024;3(4):453-460
		                        		
		                        			
		                        			 To explore the clinical and genetic features of Aicardi-Goutières syndrome (AGS) caused by  We analyzed the clinical features and genetic mutation results of a boy with AGS type 7 and conducted a retrospective review of the literature of the characteristics and clinical features of  In the case of this report, the patient, 13-year-old boy, exhibited gait abnormalities at age 3. As the condition was progressive, the boy has paraplegia of the lower limbs. The first brain MRI showed no lesions.Rehabilitation therapy in the past several years has shown no improvement.Recent brain CT revealed multiple intracranial calcifications. The whole-exome sequencing identified a heterozygous mutation in the  AGS7 is a type of I interferonopathy. Growth retardation and nervous system involvement are the most prevalent.The condition usually involve the skin, blood system, digestive system, kidney, heart, and other organs. JAK inhibitors prove effective for this disease.
		                        		
		                        	
2.Construction of clinical skills practice training model for pelvic floor rehabilitation specialist nurses based on Taylor model
Yan CHEN ; Yanhua HAN ; Zhizhi XIAO ; Shasha ZHANG
Chinese Journal of Modern Nursing 2024;30(24):3299-3304
		                        		
		                        			
		                        			Objective:To construct a clinical skills practice training model for pelvic floor rehabilitation specialist nurses based on the Taylor model, providing reference for cultivating the practical abilities of pelvic floor rehabilitation nurses.Methods:Based on the Taylor model, a preliminary draft of the clinical skills practice training model for pelvic floor rehabilitation specialist nurses was formulated through literature review, semi-structured interviews, and group discussions. From July to August 2023, 17 experts in nursing education, medical care, and pelvic floor rehabilitation nursing were invited to conduct two rounds of Delphi expert consultations to determine the various indicators of the training model. Analytic hierarchy process was used to determine the weights of indicators at all levels.Results:In the two rounds of consultation, the effective response rates of the questionnaires were all 100.00% (17/17), and the expert authority coefficients were 0.876. Kendall harmony coefficients of various indicators were 0.106 to 0.235 and 0.204 to 0.235 ( P<0.05). A clinical skills practice training model for pelvic floor rehabilitation specialist nurses was ultimately developed, which included three primary indicators, 12 secondary indicators, and 32 tertiary indicators. Analytic hierarchy process showed that the consistency ratios of each matrix for the tertiary indicators were all less than 0.100, passing the consistency test. Conclusions:The clinical skills practice training model for pelvic floor rehabilitation specialist nurses constructed highlights nursing characteristics, has high reliability and practicality, and can provide reference for practical training of pelvic floor rehabilitation skills.
		                        		
		                        		
		                        		
		                        	
3.Effect of MEIS1 expression on survival in patients after radical gastrectomy and its value in prognostic evaluation
Jiaxin YI ; Yangyu ZHANG ; Yingli FU ; Yuchen PAN ; Yongjie HAN ; Jing JIANG ; Yanhua WU
Journal of Jilin University(Medicine Edition) 2024;50(5):1358-1364
		                        		
		                        			
		                        			Objective:To discuss the postoperative survival of the gastric cancer patients with different expression levels of myeloid ecotropic viral integration site 1(MEIS1),and to analyze the predictive value of MEIS1 expression in the prognosis evaluation of gastric cancer.Methods:In a gastric cancer survival cohort,215 patients who underwent radical gastrectomy were selected.Immunohistochemical staining was used to detect the expression levels of MEIS1 in both gastric cancer and adjacent normal tissues.The relationship between expression level of MEIS1 and the clinicopathological characteristics of the patients were analyzed by x2 test or Fisher's exact probability method;survival curves were plotted by Kaplan-Meier method;the differences in survival of the patients between MEIS1 high expression group and MEIS1 low expression group were compared by Log-rank test;multivariate Cox proportional hazards regression model was used to calculate the hazard ratios(HR)and 95%confidence intervals(CI)to assess the relationship between MEIS1 expression level and the survival of the gastric cancer patients.Results:The immunohistochemical staining result showed that the expression level of MEIS1 in gastric cancer tissue was decreased.The univariate analysis results showed that the patients with high MEIS1 expression had a longer overall survival than those with low expression(P=0.049),and had a better prognosis.The multivariate Cox proprotional hazards regression analysis results showed that the low MEIS1 expression and high TNM stage were the independent risk factors for poor prognosis of the patients with gastric cancer(HR=1.577,95%CI:1.011-2.460,P=0.045;HR=2.709,95%CI:1.708-4.297,P<0.001).Conclusion:The gastric cancer patients with low expression of ME1S1 have a shorter postoperative overall survival;MEIS1 is a promising biomarker for prognosis assessment of the patients after radical gastrectomy.
		                        		
		                        		
		                        		
		                        	
4.Analysis of therapeutic mechanism of Liushen Wan against colitis-associated colorectal cancer based on network pharmacology and validation in mice.
Xuefang ZHANG ; Yanhua CHEN ; Zongheng LI ; Jing SHANG ; Zeting YUAN ; Wanli DENG ; Ying LUO ; Na HAN ; Peihao YIN ; Jun YIN
Journal of Southern Medical University 2023;43(7):1051-1062
		                        		
		                        			OBJECTIVE:
		                        			To explore the therapeutic mechanism of Liushen Wan (LSW) against colitis-associated colorectal cancer (CAC) by network pharmacology.
		                        		
		                        			METHODS:
		                        			TCMSP, BATMAN-TCM, CNKI, PubMed, Genecards, OMIM, and TTD databases were used to obtain the related targets of LSW and CAC. The common targets of LSW and CAC were obtained using Venny online website. The PPI network was constructed using Cytoscape 3.8.2 to screen the core targets of LSW in the treatment of CAC. GO and KEGG enrichment analysis were conducted using DAVID database. The therapeutic effect of LSW on CAC was evaluated in a C57BL/6J mouse model of AOM/DSS-induced CAC by observing the changes in body weight, disease activity index, colon length, and size and number of the tumor. HE staining and RT-qPCR were used to analyze the effect of LSW on inflammatory mediators. Immunohistochemistry and TUNEL staining were used to evaluate the effect of LSW on the proliferation and apoptosis of AOM/DSS-treated colon tumor cells. Immunohistochemistry and Western blotting were used to detect the effects of LSW on the expression of TLR4 proteins in CAC mice.
		                        		
		                        			RESULTS:
		                        			Network pharmacology analysis identified 69 common targets of LSW and CAC, and 33 hub targets were screened in the PPI network. KEGG pathway enrichment analysis suggested that the effect of LSW on CAC was mediated by the Toll-like receptor signaling pathway. In the mouse model of AOM/DSS-induced CAC, LSW significantly inhibited colitis-associated tumorigenesis, reduced tumor number and tumor load (P < 0.05), obviously improved histopathological changes in the colon, downregulated the mRNA levels of proinflammatory cytokines, and inhibited the proliferation (P < 0.01) and promoted apoptosis of colon tumor cells (P < 0.001). LSW also significantly decreased TLR4 protein expression in the colon tissue (P < 0.05).
		                        		
		                        			CONCLUSION
		                        			LSW can inhibit CAC in mice possibly by regulating the expression of TLR4 to reduce intestinal inflammation, inhibit colon tumor cell proliferation and promote their apoptosis.
		                        		
		                        		
		                        		
		                        			Mice
		                        			;
		                        		
		                        			Animals
		                        			;
		                        		
		                        			Toll-Like Receptor 4
		                        			;
		                        		
		                        			Colitis-Associated Neoplasms
		                        			;
		                        		
		                        			Network Pharmacology
		                        			;
		                        		
		                        			Mice, Inbred C57BL
		                        			;
		                        		
		                        			Colonic Neoplasms/pathology*
		                        			
		                        		
		                        	
5.Fibrillarin promotes homologous recombination repair by facilitating the recruitment of recombinase RAD51 to DNA damage sites.
Yanhua MU ; Jinhua HAN ; Mingjie WU ; Zongfang LI ; Ke DU ; Yameng WEI ; Mengjie WU ; Jun HUANG
Journal of Zhejiang University. Science. B 2023;24(12):1165-1173
		                        		
		                        			
		                        			Eukaryotic organisms constantly face a wide range of internal and external factors that cause damage to their DNA. Failure to accurately and efficiently repair these DNA lesions can result in genomic instability and the development of tumors (Canela et al., 2017). Among the various forms of DNA damage, DNA double-strand breaks (DSBs) are particularly harmful. Two major pathways, non-homologous end joining (NHEJ) and homologous recombination (HR), are primarily responsible for repairing DSBs (Katsuki et al., 2020; Li and Yuan, 2021; Zhang and Gong, 2021; Xiang et al., 2023). NHEJ is an error-prone repair mechanism that simply joins the broken ends together (Blunt et al., 1995; Hartley et al., 1995). In contrast, HR is a precise repair process. It involves multiple proteins in eukaryotic cells, with the RAD51 recombinase being the key player, which is analogous to bacterial recombinase A (RecA) (Shinohara et al., 1992). The central event in HR is the formation of RAD51-single-stranded DNA (ssDNA) nucleoprotein filaments that facilitate homology search and DNA strand invasion, ultimately leading to the initiation of repair synthesis (Miné et al., 2007; Hilario et al., 2009; Ma et al., 2017).
		                        		
		                        		
		                        		
		                        			Recombinational DNA Repair
		                        			;
		                        		
		                        			DNA-Binding Proteins/metabolism*
		                        			;
		                        		
		                        			DNA Repair
		                        			;
		                        		
		                        			DNA Damage
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		                        			DNA
		                        			
		                        		
		                        	
6.Signaling Pathways in Traditional Chinese Medicine Treatment of Pelvic Inflammatory Disease: A Review
Fanqi SHEN ; Yanhua HAN ; Li LIU
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(18):251-258
		                        		
		                        			
		                        			Pelvic inflammatory disease (PID) is an infection of women's reproductive organs, which lasts a long time and features frequent recurrence. It is mainly caused by apoptosis, low immunity, abnormal metabolism and blood rheology indexes, and bacterial imbalance. The pathological manifestations are tissue adhesion, fibrosis, and chronic inflammation, and inflammatory response occurs in the whole process of this disease. Therefore, interfering with the inflammatory response tends to be a solution. A few therapies are available in western medicine and antibiotics are commonly used. However, antibiotic resistance is still a bottleneck in the treatment and thus the symptoms of patients fail to be obviously relieved, with pelvic tissue adhesions remained. In the treatment of inflammation, traditional Chinese medicine has remarkable effect and internal-use and external-use medicines are both used, such as oral Chinese medicinal decoction, Chinese medicine enema, Chinese medicine iontophoresis, and acupuncture. They exert therapeutic effect by regulating the conduction of related signaling pathways and influencing the expression of inflammatory cytokines. At the moment, most articles focus on the efficacy of traditional Chinese medicine in the treatment of PID, and there is a lack of summary on traditional Chinese medicine regulation of relevant signaling pathways and the pathogenesis of PID. Therefore, by summarizing relevant research, this review proposed five signaling pathways related to the occurrence of this disease, namely, transforming growth factor-β/Smads protein (TGF-β/Smads) signaling pathway, Janus kinase/signal transducer and transcription activator (JAK/STAT) signaling pathway, nuclear factor-κB (NF-κB) signaling pathway, mitogen-activated protein kinase (MAPK) signaling pathway, and Hippo signaling pathway, and described the pathogenesis of this disease. Thereby, this study is expected to provide effective targets and ideas for the treatment of this disease. 
		                        		
		                        		
		                        		
		                        	
7.Establishment and identification of a mitochondrial tracking system
Lin LYU ; Sihan WANG ; Quan ZENG ; Han DUAN ; Zhuang MAO ; Changyao WANG ; Xuetao PEI ; Hua WANG ; Yanhua LI
Chinese Journal of Pharmacology and Toxicology 2023;37(12):928-935
		                        		
		                        			
		                        			OBJECTIVE To observe whether mitochondria can be transferred from mesenchymal stem cells(MSCs)to irradiated cells by establishing a mitochondrial fluorescent reporting system.METHODS The lentiviral vector pSIN-EF1α-COX8A-DsRed2(named COX8A-DsRed2)that might guide the expres-sion of red fluorescence protein in the membrane of mitochondria was constructed.A lentivirus(named Lv-COX8A-DsRed2)was prepared in 293T cell line.Dental pulp stem cells(DPSCs)(named DPSC-COX8A-DsRed2)was infected with Lv-COX8A-DsRed2.The intracellular expression of the red fluores-cence protein in DPSC was observed under fluorescence microcopy.The mitochondrial localization of the expressed red fluorescent probe in DPSC-COX8A-DsRed2 was confirmed according to TOMM20 immunostaining and MitoTracker Green staining results,which could specifically label mitochondria.The IEC-6 cells that received 10 Gy X-ray radiation were used as an injured cell model.The co-culture system was established by supplementing DPSC-COX8A-DsRed2 into the culture plate with the irradi-ated IEC-6 labelled by CFSE for 24 h.RESULTS The imaging results of fluorescent microcopy obser-vation showed that DPSC-COX8A-DsRed2 expressed the mitochondrial fluorescent reporting system,which was co-located with TOMM20 protein and Mito Tracker Green.The imaging results of confocal fluorescence microcopy showed that the mitochondria with red fluorescent protein were transferred from DPSC-COX8A-DsRed2 to the irradiated IEC-6 cells,suggesting that the established mitochondrial fluorescent reporting system could indicate mitochondrial transfer from donor cells to injured ones.CONCLUSION DPSC-COX8A-DsRed2 stably expressing the mitochondrial fluorescent reporting system is established,which can be used to track mitochondrial transfer.
		                        		
		                        		
		                        		
		                        	
8.Effect of epalrestat combined with calcium dobesilate on diabetes peripheral neuropathy and oxidative stress
Jinhai WANG ; Kai JIANG ; Pei HAN ; Yanhua KONG ; Yusen ZHOU
Chinese Journal of Endocrine Surgery 2023;17(3):332-336
		                        		
		                        			
		                        			Objective:To explore the effect of epalrestat combined with calcium dobesilate on cardiovascular and cerebrovascular diseases and oxidative stress in diabetes patients with peripheral neuropathy.Methods:In a retrospective analysis, 92 patients with diabetic peripheral neuropathy were admitted to the Department of Endocrinology and Metabolism Hospital of Bozhou People’s Hospital from Jun. 2018 to Jun. 2021, which were divided into observation group and control group according to the different treatment methods, with 46 cases in each group. The control group were treated with epalrestat. On this basis, the observation group were given calcium dobesilate combined treatment. The two groups were compared in terms of the Michigan diabetes neuropathy score (MDNS) Michigan neuropathy screening instrument (MNSI) score, oxidative stress reaction [serum superoxide dismutase (SOD), reduced glutathione (GSH) ], clinical efficacy, complications and adverse reactions Using t-test and chi square test.Result:After treatment, the MDNS and MNSI scores of both groups decreased, and the observation group [ (23.49±3.73), (8.49±1.97) ] were lower than the control group [ (28.49±3.85), (11.53±2.28) ] ( t=8.337, 6.843, P<0.05) ; After treatment, the levels of SOD and GSH in both groups increased compared to those before treatment, and the observation group [ (38.96±4.89), (89.79±6.92) ] were higher than the control group those [ (36.42±4.61), (86.74±6.20) ] ( t=2.563, 2.226, P=0.012, 0.028) ; The clinical efficacy of the observation group was higher than that of the control group ( Z=1.592, P=0.042) ; The incidence of complications in the observation group after 1 year was significantly lower than that in the control group ( χ2=4.389, P=0.036) ; The incidence of adverse reactions in the observation group was slightly lower than that in the control group ( χ2=0.155, P=0.694) . Conclusion:Epalrestat combined with calcium dobesilate is effective in the treatment of diabetes peripheral neuropathy, can effectively reduce complications, and has high treatment safety, which is worthy of clinical application.
		                        		
		                        		
		                        		
		                        	
9.Effect of team psychological counseling in patients with inflammatory bowel disease
Haixia LIU ; Xiaoxia HAN ; Qiujun ZHANG ; Yanhua LI ; Zhengzheng ZHANG
Chinese Journal of Modern Nursing 2022;28(6):813-816
		                        		
		                        			
		                        			Objective:To explore the effect of team psychological counseling in patients with inflammatory bowel disease (IBD) .Methods:From January to December 2020, 90 IBD patients admitted to the Department of Gastroenterology of the Fifth Affiliated Hospital of Zhengzhou University were selected as the research object by convenience sampling. According to the random number table method, the patients were divided into the observation group and the control group, 45 cases in each group. The control group carried out routine nursing, and the observation group conducted team psychological counseling on this basis. The Morisky Medication Adherence Scale (MMAS) , Inflammatory Bowel Disease Self-efficacy Scale (IBD-SES) and the Hospital Anxiety and Depression Scale (HADS) were used to evaluate the intervention effect.Results:After the intervention, the scores of MMAS and IBD-SES in the observation group were higher than those of the control group, and the anxiety scores and depression scores of HADS were lower than those of the control group, and the differences were all statistically signifcant ( P<0.05) . Conclusions:Team psychological counseling can increase the medication compliance and self efficacy of IBD patients, alleviate the patients' poor psychological state.
		                        		
		                        		
		                        		
		                        	
10.The effect of ozone water on repairing articular cartilage of knee osteoarthritis and its influence on NF-κB signaling pathway
Mingyue TIAN ; Xiaofen DING ; Songchen HAN ; Zhimeng YANG ; Yanhua LI ; Mengya JIA ; Youlong ZHOU
Chinese Journal of Orthopaedics 2021;41(23):1717-1725
		                        		
		                        			
		                        			Objective:To observe the repairing effect of ozone water injection in the articular cavity for the treatment of knee osteoarthritis (KOA) on articular cartilage and to explore its repair mechanism.Methods:48 rats were randomly divided into fourgroups, the normal, model, normal saline and ozone water group, each group had 12 rats. The rats were injectied into the joint cavity with papain to establish a KOA model other than the normal group. After confirming the success of the model, the ozone water group and normal saline group was treated with ozone water and normal saline injection into the joint cavity once a week for a total of 3 treatments, the normal group and the model group are all raised routinely. Before and after the treatment, the ratknee joint behavioral score MG score was conducted; after the treatment articular cartilage surface gross score, hematoxylin and eosin (HE) staining and modified Mankin score of articular cartilage pathological changes was measured, and Western blot and Rt-PCR to measure the level of protein and mRNA expression of NF-κB p65, IKKβ and IκBα in articular cartilage tissues.Results:Compared with before the treatment, the rat knee joint behavioral score of the ozone water group was significantly lower (all P<0.05); after the treatment, the gross articular cartilage surface score and the modified Mankin score of the ozone water group were significantly reduced compared with the model and normal saline group (all P<0.05); Compared with the model and normal saline group, the protein and mRNA expression levels of NF-κB p65 and IKKβ in the ozone water group are significantly lower (all P<0.05), and the levels of IκBα are significantly higher (all P<0.05). Conclusion:Ozone water injection in the articular cavity can effectively repair damaged articular cartilage. The repair mechanism may be achieved by inhibiting the activation of NF-κB signaling pathway.
		                        		
		                        		
		                        		
		                        	
            
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