1.Distribution Characteristics and Genetic Variation Analysis of Mitochondrial Encephalomyopathy in Children: a Multicenter Study in Hainan Province
Lin DENG ; Jun LU ; Xiuling CHEN ; Yuanlong LI
JOURNAL OF RARE DISEASES 2025;4(3):308-315
To investigate and analyze the distribution characteristics and genetic variation of mitochondrial encephalomyopathy (ME) in children in Hainan province. According to the principle of capture-recapture (C-R) method, a mathematical model was established to investigate suspected and confirmed cases of ME in children treated in Hainan Province from January 2012 to January 2023. The representative hospitals in Haikou and Sanya were selected as sample sources. The Morava mitochondrial disease criteria scale was used for the initial screening of children suspected of having ME. Subsequently, further follow-up and comprehensive gene sequencing were conducted to identify confirmed ME cases. Finally, the confirmed cases were aggregated and incorporated into the mathematical model to estimate the prevalence of ME among children in Hainan Province, and their genetic variation characteristics were also analyzed. A total of 238 children with suspected ME were screened using the Morava scale, and 64 children with ME were diagnosed through gene sequencing. The prevalence of ME in children in Hainan Province was estimated to be 5.58/100 000(95% CI: 3.12/100 000-8.04/100 000) by taking the confirmed cases from the survey into the C-R mathematical model. A total of 13 disease types were involved in the confirmed cases. There were 32 cases of mtDNA mutation, involving 10 pathogenic genes. Additionally, there were 32 cases of nDNA variation, involving 23 pathogenic genes. A total of 21 new mutation sites were found, and pathogenicity analysis was performed on 14 variants of uncertain significance among them. Apart from 3 mutations for which the evidence of pathogenicity was still insufficient, the remaining mutations were predicted by the computer to be harmful and associated with alterations in protein structure. Conclusions This study estimated the prevalence of a regional rare disease (ME in children in Hainan Province) based on the principle of the C-R method, providing references for further large-scale rare disease investigations in China. The comprehensive use of the Morava scale, genetic sequencing, and pathogenicity analysis tools is helpful for clarifying the characteristics of genetic variations in children with ME and achieving early diagnosis and treatment.
2.Efficacy and safety of coblopasvir hydrochloride capsules/sofosbuvir tablets with or without ribavirin tablets in treatment of patients with chronic hepatitis C virus infection
Chunyan MOU ; Danqing XU ; Huan MU ; Jiangyan ZHANG ; Lixian CHANG ; Yuanqiang HE ; Yingyuan ZHANG ; Weikun LI ; Xiuling ZHANG ; Xiliang HE ; Qin PENG ; Li LIU
Journal of Clinical Hepatology 2025;41(9):1779-1787
ObjectiveTo investigate the therapeutic efficacy, influencing factors, and safety of a treatment regimen based on coblopasvir hydrochloride capsules/sofosbuvir tablets in patients with chronic hepatitis C virus (HCV) infection in a real-world setting. MethodsA total of 253 patients who attended The Third People’s Hospital of Kunming from September 1, 2021 to May 31, 2024 were enrolled, among whom there were 86 patients with compensated liver cirrhosis (CLC group) and 167 patients with chronic hepatitis C (CHC group). The patients were treated with coblopasvir hydrochloride capsules (60 mg)/sofosbuvir tablets (400 mg) with or without ribavirin tablets for 12 weeks, and they were followed up for 12 weeks after drug withdrawal. The primary outcome measures were the rate of sustained virologic response at week 12 after treatment (SVR12) and safety, and the secondary outcome measures were the changes in liver function, renal function, blood routine, and liver stiffness measurements (LSM) after 4 weeks of treatment, after 12 weeks of treatment, and at 12 weeks after drug withdrawal. The independent-samples t test and the Mann-Whitney U test were used for comparison of continuous data between two groups, and the Friedman test was used for comparison between multiple groups, while the Bonferroni method was used for paired comparison within each group; the chi-square test was used for comparison of categorical data between two groups. The Logistic analysis was used to investigate related influencing factors. ResultsThe 253 patients with chronic HCV infection had a mean age of 49.38±8.65 years, and there were 151 male patients (59.7%). Of all patients, 33.99% (86/253) had liver cirrhosis, 25.69% (65/253) had hypertension, 10.67% (27/253) had HIV infection, 8.70% (22/253) had diabetes, 3.95% (10/253) had liver cancer, 1.98% (5/253) had chronic hepatitis B, and 7.91% (20/253) were treatment-experienced patients. As for genotype distribution, 2.77% (7/253) had genotype 1, 12.65% (32/253) had genotype 2, 66.01% (167/253) had genotype 3, 16.60% (42/253) had genotype 6, and 1.98% (5/253) had unknown genotype. The patients had an overall SVR12 rate of 92.09%, with an SVR12 rate of 93.02% in the CLC group and 91.02% in the CHC group. The multivariate logistic regression analysis showed that age (odds ratio [OR]=1.086, 95% confidence interval [CI]: 1.007 — 1.170, P=0.032) and HCC (OR=9.178, 95%CI: 1.722 — 48.912, P=0.009) were independent influencing factors for sustained virologic response. Compared with baseline data, the CLC group had significant reductions in alanine aminotransferase (ALT) (χ2=107.103, P0.05), aspartate aminotransferase (AST) (χ2=90.602, P0.05), and LSM (χ2=42.235, P0.05) after 12 weeks of treatment, while the CHC group had significant reductions in total bilirubin (χ2=15.113, P0.05), ALT (χ2=202.237, P0.05), AST (χ2=161.193, P0.05), and LSM (χ2=37.606, P0.05). The incidence rate of serious adverse events was 1.58%, and none of the patients withdrew from drug therapy; the patients with such events were relieved after active symptomatic treatment. The incidence rate of all adverse events was 23.72%, among which fatigue (17.39%) and nausea (2.37%) were the most common adverse events, and these events often disappeared within 2 weeks or were gradually relieved after symptomatic treatment. ConclusionCoblopasvir hydrochloride capsules/sofosbuvir tablets with or without ribavirin tablets has good efficacy and safety in the treatment of chronic HCV infection.
3.Applications of Biologically Oriented Preparation Technique in Prosthodontics
Hao HUANG ; Xuelin LI ; Fei SONG ; Xiuling JI ; Yingying XIANG
Journal of Kunming Medical University 2024;45(1):168-171
The preparation edge of the tooth in oral restoration has always been the hot concern for dentists,and the improper preparation edge may lead to such diseases as caries and periodontitis,and ultimately lead to the restoration failure.The application of biologically oriented preparation technique has been proven to restore good periodontal soft and hard tissue morphology,which is expected to replace the traditional dental preparation methods.This article aims to comprehensively discuss the application of biologically oriented preparation technique in veneers,full crown and implantation.
4.Relationship among psychological resilience, parental control, and behavioral problems in junior high school students in Guizhou Province
Chinese Journal of School Health 2024;45(5):689-692
Objective:
To investigate the relationships among psychological resilience, parental control, and behavioral problems in middle school students, aiming to provide evidencebased recommendations for the prevention and intervention of behavioral issues in middle school students, as well as for the development of related policies.
Methods:
A stratified cluster sampling method was used to select 2 745 participants from three cities in Guizhou Province with different levels of economic development from August to December 2021. The Child Behavior Checklist (CBCL), Parental Control Questionnaire, and Psychological Resilience Questionnaire were administered to junior high school students and their parents. A network analysis method was employed to construct a network analysis model of factors influencing behavioral problems.
Results:
The detection rate of behavioral problems among junior high school students in Guizhou Province was 22.62%. The scores for psychological resilience (goal focus, emotional control, positive cognition, family support, and interpersonal assistance) and proactive inquiry in behavior control were higher in the group without behavioral problems than in the group with behavioral problems. Scores for psychological control (inducing guilt, with drawing affection, and asserting authority) were higher in the group with behavioral problems than in the group without behavioral problems, with statistically significant differences (t=9.80, 17.76, 6.21, 12.20, 13.18, 6.28, 11.58, 11.10, 10.74, P<0.05). The network model showed that among the same variable factors, the strongest connection weight was between inducing guilt and withdrawing affection, with a weight of 0.79. Between different variables, there were negative correlation between behavioral problems and psychological resilience (goal focus, emotional control, positive cognition, family support, interpersonal assistance) and behavior control (proactive inquiry, behavioral restraint) with correlation coefficients (r=-0.25, -0.42, -0.16, -0.31, -0.33, -0.17, -0.03, P<0.05), respectively. There were positive correlation between psychological control factors (inducing guilt, withdrawing affection, and asserting authority) and behavioral problems (r=0.29, 0.27, 0.27), and a negative correlation between these psychological control factors and psychological resilience factors (goal focus, emotional control, positive cognition, family support, interpersonal assistance)(r=-0.53--0.13)(P<0.05). The strongest connection weight was between withdrawing affection and family support, with a connection weight of -0.53. Family support was an important bridge symptom connecting the entire behavioral problem network model, with a high centrality.
Conclusions
The detection rate of behavioral problems among junior high school students in Guizhou Province is relatively high. Assisting adolescents in establishing a supportive family environment facilitates the cultivation of their psychological resilience, thereby mitigating the occurrence of behavioral problems.
5.Midnight-Noon Ebb-Low Acupuncture by Hour-Prescription of Points Combined with Western Medicine for Parkinson's Disease with Restless Legs Syndrome:A Randomized Controlled Trial
Xiaodong LI ; Xiuling WU ; Meizhi CAI ; Jia SHI
Journal of Traditional Chinese Medicine 2024;65(16):1681-1686
ObjectiveTo observe the clinical effectiveness of midnight-noon ebb-low acupuncture by hour-prescription of points combined with western medicine for patients of Parkinson's disease with restless legs syndrome. MethodsSixty cases of Parkinson's disease with restless legs syndrome were divided into a control group and a treatment group randomly, with 30 cases in each group. The control group was given conventional western medicine treatment, and the treatment group was given the treatment of the control group with midnight-noon ebb-low acupuncture by hour-prescription of points based on Daling (PC 7), Zhongzhu (TE 3), Yanglingquan (GB 34), Zusanli (ST 36), and Sanyinjiao (SP 6) with perpendicular insertion, and Baihui (GV 20) with oblique insertion to the back,all of them used the manipulation of neutral reinforcement and reduction; Dudu (SP 2) and Taibai (SP 3) acupoints were inserted in accordance with the direction of the meridian travelling when the patients inhaled, and the needle was removed when exhaled; the time of acupuncture manipulation selected as Si time (9 AM-11 AM), the needle stay for 30 mins each time, once a day, 5 times a week, a total of 4 weeks of treatment. The international restless legs severity scale (IRLSS), Pittsburgh sleep quality index (PSQI), Parkinson's disease quality of life questionnaire (PDQ-39), and the International Movement Disorder Society unified Parkinson's disease rating scale part Ⅰ (MDS-UPDRS Ⅰ) were compared before and after the treatment, and the clinical effectiveness of the two groups were compared after the treatment. ResultsIRLSS scores, PSQI scores, PDQ-39 scores and MDS-UPDRS Ⅰ scores decreased in both groups after treatment compared to those before treatment (P<0.05 or P<0.01). After treatment, the total effective rate in the treatment group (83.3%, 25/30) was higher than that in the control group (60%, 18/30) (P<0.05). ConclusionAdding midnight-noon ebb-low acupuncture with hour-prescription of points on conventional western medicine treatment for Parkinson's disease with restless legs syndrome can significantly improve patients' clinical symptoms, sleep quality, quality of life, and enhance clinical effectiveness.
6.Immune reconstitution and influencing factors in HIV infected men who have sex with men with access to antiviral therapy in Guangxi Zhuang Autonomous Region from 2005 to 2021
Ni CHEN ; He JIANG ; Huanhuan CHEN ; Qiuying ZHU ; Xiuling WU ; Jianjun LI ; Nengxiu LIANG ; Qin MENG ; Xuanhua LIU ; Jinghua HUANG ; Wenxuan HOU ; Zhaoquan WANG ; Guanghua LAN
Chinese Journal of Epidemiology 2024;45(4):529-535
Objective:To analyze immune reconstitution and influencing factors in HIV infected men who have sex with men (MSM) with access to antiviral therapy (ART) in Guangxi Zhuang Autonomous Region (Guangxi) during 2005-2021.Methods:The data were collected from Chinese Disease Prevention and Control Information System. The study subjects were HIV infected MSM with access to the initial ART for ≥24 weeks in Guangxi from 2005 to 2021 and HIV RNA lower than the detection limit within 24 months. The proportion of infected MSM who had immune reconstitution after ART was calculated. Cox proportional hazard regression model was used to analyze the influencing factors of immune reconstitution. Software SPSS 24.0 was used for statistical analysis.Results:A total of 3 200 HIV infected MSM were enrolled, in whom 15.56 % (498/3 200) had no immune reconstitution, 14.78% (473/3 200) had moderate immune reconstitution, and the rate of complete immune reconstitution was 69.66% (2 229/3 200). The M ( Q1, Q3) of ART time for immune reconstitution was 12 (5, 27) months. Multivariate Cox proportional risk regression model analysis results showed that compared with those with initial ART at age ≥30 years, WHO clinical stage Ⅲ/Ⅳ illness, baseline BMI <18.50 kg/m 2 and baseline CD4 +T lymphocyte (CD4) counts <200 cells/μl, HIV infected MSM with initial ART at age <30 years, WHO clinical stageⅠ/Ⅱ illness, baseline BMI≥24.00 kg/m 2 and baseline CD4 counts ≥200 cells/μl were more likely to have complete immune reconstitution. Conclusions:In the HIV infected MSM in Guangxi, failures to achieve moderate and complete immune reconstitution were observed. Surveillance and ART regimen should be improved for key populations, such as those with older age and low baseline CD4 counts.
7.Application of multidisciplinary family empowerment mode in home care for patients after percutaneous endoscopic gastrostomy
Yu LI ; Zhicheng HUANG ; Haili FANG ; Jing YANG ; Caixia MOU ; Lijuan WANG ; Yanjiang LIU ; Xiuling ZHOU
Journal of Interventional Radiology 2024;33(11):1234-1238
Objective To discuss the effect of multidisciplinary family empowerment mode in home care for patients after receiving percutaneous endoscopic gastrostomy(PEG).Methods A total of 86 patients,who received initial PEG at the Jilin Provincial Cancer Hospital of China from January 2021 to July 2023,were selected for this study.The patients were randomly divided into observation group.The patients of the control group received routine nursing guidance for gastrostomy,while the patients of the observation group received multidisciplinary family empowerment nursing mode.The self-care ability[using self-care ability scale of the elderly(SASE)score],health behavior ability[using self-rating scale of health behavior ability(SRAHP)score],incidence of complications,and healing time of complications were compared between the two groups.Results In the observation group the SASE[(129.48±5.48)points vs.(73.05±12.04)points]and the SRAHP[(80.14±1.00)points vs.(70.25±7.92)points]were significantly higher than those in the control group(all P<0.05),the incidence of complications was lower than that in the control group,and the healing time of complications was shorter than that in the control group.Conclusion The implementation of multidisciplinary family empowerment nursing mode can improve the self-care ability and health behavior ability of patients after receiving PEG,reduce postoperative complications,as well as shorten the healing time of complications,therefore,this nursing mode is suitable for home patients after receiving PEG.
8.Clinical application of endoscopic resection using snares in treatment of gastric submucosal tumors
Manman LU ; Zhenjuan LI ; Shanshan XU ; Huimin ZHANG ; Xueyan WANG ; Jiaxin LI ; Runzhao QUAN ; Hao ZHANG ; Hui DING ; Xiuling LI
China Journal of Endoscopy 2024;30(11):39-46
Objective To investigate the clinical efficacy and safety of endoscopic resection using snares for the treatment of gastric submucosal tumors(SMTs).Methods 66 patients diagnosed with gastric SMTs and treated with endoscopic resection from August 2017 to August 2023 were retrospectively analyzed and divided into the snare group(endoscopic resection using snares,n=33)and the traditional resection group(endoscopic resection using a traditional disposable incision knife,n=33).The operation time,overall resection rate,incidence of adverse reactions,operation cost,hospitalisation cost,and the post-operative hospital days were compared between the two groups.Results The lesion diameter was 8.00(6.00,14.00)mm in the snare group and 8.00(7.50,10.00)mm in the traditional resection group,the difference between the two groups was not statistically significant(P>0.05);The operative time in the snare group was significantly shorter than that in the traditional resection group[26.00(19.00,30.50)min vs 33.00(22.50,49.50)min],the difference was statistically significant(P<0.05);The overall resection rate in both groups was 100.0%;Neither group of patients had intraoperative perforation.There were no statistically significant differences in the incidence of adverse reactions such as intraoperative bleeding,abdominal pain and fever between the two group(P>0.05);The operative cost of the snare group was significantly lower than the traditional endoscopic resection group[(8 642.18±1 078.56)yuan vs(13 266.45±2 160.80)yuan],the difference was statistically significant(P<0.05).Conclusion Compared with traditional surgical instruments,endoscopic resection of gastric SMTs using snares has a shorter operating time,lower surgical costs,safe and effective,making it worthy of promotion.
9.Hederagenin alleviates neuroinflammation response by regulating glutamate-induced ferroptosis in HT22 cells
Yuxin FENG ; Heran WANG ; Yazhuo HU ; Hongmei SUN ; Xiaoxue ZHANG ; Xiuling MIAO ; Zihan LI ; Jianjun JIA
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2024;26(10):1221-1225
Objective To explore the regulatory role of hederagenin(HG)on glutamate(Glu)-in-duced ferroptosis and corresponding inflammatory responses in mouse hippocampal neuron HT22 cells and investigate its potential mechanisms.Methods HT22 cells were randomly divided into control,Glu and HG groups(n=3).The cells of the control group received no treatment,the cells of the Glu group were treated with 35 mmol/L Glu for 24 h to establish a cellular model of ferroptosis in Alzheimer's disease,and the cells of the HG group were treated with 0.5 μmol/L HG and 35 mmol/L Glu for 24 h simultaneously.FerroOrange fluorescent probe was used to de-tect intracellular Fe2+.The production of reactive oxygen species(ROS),mitochondrial membrane potential,and levels of inflammatory factors TNF-α,IL-1β and IL-6 in the cells were assessed.Finally,the expression of the key regulator of iron death,glutathione peroxidase 4(GPX4)was measured.Results Compared to the control group,the levels of intracellular Fe2+,ROS,TNF-α,IL-1β,and IL-6 were significantly elevated,while the mitochondrial membrane potential was obvi-ously reduced in the Glu group(P<0.05,P<0.01).The HG group had significantly decreased Fe2+,ROS,TNF-α,IL-1β,and IL-6 and enhanced mitochondrial membrane potential than the Glu group(P<0.05,P<0.01).The GPX4 expression was significantly lower in the Glu group than the control group(1.00±0.02 vs 0.46±0.04,P<0.01),and was notably higher in the 0.5 and 1.0 μmol/L HG groups when compared to the Glu group(0.64±0.03 and 0.59±0.05 vs 0.46±0.04,P<0.01).Conclusion HG inhibits ferroptosis by regulating GPX4 expression,and thereby effec-tively alleviates the inflammatory response.
10.Effects of long non-coding RNA H19 regulating miRNA-675 and PTEN on the cell proliferation of glioma
Ping LIU ; Ningning ZHANG ; Ying ZHANG ; Ranxin HUANG ; Yuexiang ZHANG ; Lulu LI ; Zemin QIN ; Xiuling WANG ; Sulan WANG ; Jianlan CHANG ; Junyan YU
Cancer Research and Clinic 2024;36(11):863-868
Objective:To investigate the effect of long non-coding RNA (lncRNA) H19 regulating miRNA-675 (miR-675) and phosphatase and tensin homologue-deleted chromosome ten gene (PTEN) on the cell proliferation of glioma.Methods:Glioma cell lines U87-MG and U251 were chosen. The siRNA online design tool wad used to design small interfering RNA (siRNA) targeting H19. U87-MG and U251 cell lines with the stable knockdown of H19 were constructed (the stable knockdown of H19 group), and the cells randomly transfected with siRNA plasmid were taken as the control group, and normal cultured cells were treated as the blank group. Additionally, miR-675 and control microRNA were transfected into U87-MG and U251 with the stable knockdown of H19 (the overexpressing miR-675 group and the corresponding control group). Quantitative real-time polymerase chain reaction (qRT-PCR) was used to detect the relative expression levels of miR-675 and H19 in each group; the methyl thiazolyl tetrazolium (MTT) assay was used to detect the cell proliferation ability; the dual luciferase reporter gene assay was used to verify the targeting relationship between miR-675 and PTEN; Western blot was used to detect the relative expression level of PTEN protein.Results:The MTT assay results showed that the proliferation ability of U87-MG and U251 cells in the stable knockdown of H19 group was lower than that of the corresponding control group; and the differences in cell proliferation ability of all the groups after 48 h of culture were statistically significant (all P < 0.05). qRT-PCR detection results showed that the relative expression level of miR-675 in U251 cells in the stable knockdown of H19 group and the corresponding control group was 0.329±0.009 and 1.043±0.087, respectively, and the difference was statistically significant ( t = 14.15, P < 0.001); the relative expression level of miR-675 in U87-MG cells in the stable knockdown of H19 group and the corresponding control group was 0.299±0.009 and 1.027±0.106, respectively, and the difference was statistically significant ( t = 11.85, P < 0.001); the relative expression level of miR-675 in U87-MG and U251 cells in the stable knockdown of H19 group was lower than that of the corresponding control group. The dual luciferase reporter gene assay verified that miR-675 could bind to the 3'-UTR of PTEN. Western blot detection results showed that the relative expression level of PTEN protein in U87-MG and U251 cells in the stable knockdown of H19 group was higher than that of the corresponding control group and the blank group; in the U87-MG and U251 cells in the stable knockdown of H19 group, the relative expression level of PTEN in the overexpressing miR-675 group was lower than that of the corresponding blank group and the control group. In the U87-MG and U251 cells in the stable knockdown of H19 group, the cell proliferation ability of the overexpressing miR-675 group was higher than that of the corresponding blank group and the control group; the differences in cell proliferation ability of all the groups after 48 h of culture were statistically significant (all P < 0.05). Conclusions:lncRNA H19 may regulate the cell proliferation of glioma cells through the miR-675-PTEN signaling pathway.


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