1.GBA1 Thr408Met mutation in a patient with Parkinson’s disease
Yi ZHAO ; Junwen LI ; Chunlian JU ; Weibin QIU ; Bo ZUO ; Zhigang YANG ; Yansheng LI
Chinese Journal of Clinical Medicine 2025;32(3):524-528
GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing, leading to a diagnosis of GBA1-associated PD. The patient’s motor symptoms were primarily characterized by bradykinesia and rigidity, without significant cognitive decline. Treatment with low-dose levodopa combined with a dopamine agonist resulted in significant symptomatic improvement.
2.Effect of autologous osteochondral tissue and periosteum transplantation on tendon-bone healing of rotator cuff in rabbits.
Sen FANG ; Mingtao ZHANG ; Xudong YANG ; Cairang DAOJI ; Mingchun LI ; Zhixuan NIAN ; Junwen LIANG ; Xiangdong YUN
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(2):187-192
OBJECTIVE:
To investigate the effect of autologous osteochondral tissue and periosteum transplantation on tendon-bone healing of rotator cuff in rabbits.
METHODS:
Twenty-four male New Zealand white rabbits were randomly divided into autologous osteochondral tissue and periosteum transplantation group (experimental group, n=12) and simple suture group (control group, n=12). Both groups were subjected to acute supraspinatus tendon injury and repaired with corresponding techniques. At 4, 8, and 12 weeks after operation, 4 specimens from each group were taken from the right shoulder joint for histological examination (HE staining, Masson staining, and Safranin O-fast green staining), and the left shoulder was subjected to biomechanical tests (maximum tensile load and stiffness).
RESULTS:
Both groups of animals survived until the completion of the experiment after operation. At 4 weeks after operation, both groups showed less collagen fibers and disorder at the tendon-bone junction. At 8 weeks, both groups showed reduced inflammation at the tendon-bone junction, with more organized and denser collagen fibers and chondrocytes. The experimental group showed better results than the control group. At 12 weeks, the experimental group showed typical tendon-bone transition structure, with increased generation of collagen fibers and chondrocytes, and the larger cartilage staining area. Both groups showed an increase in maximum tensile load and stiffness over time ( P<0.05). The stiffness at 4 weeks and the maximum tensile load at 4, 8, and 12 weeks in the experimental group were superior to control group, and the differences were significant ( P<0.05). There was no significant difference in stiffness at 8, 12 weeks between the two groups ( P>0.05).
CONCLUSION
Autologous osteochondral tissue and periosteum transplantation can effectively promote the fiber and cartilage regeneration at the tendon-bone junction of rotator cuff and improve the biomechanical effect of shoulder joint in rabbits.
Animals
;
Rabbits
;
Male
;
Wound Healing
;
Transplantation, Autologous
;
Periosteum/transplantation*
;
Rotator Cuff Injuries
;
Rotator Cuff/surgery*
;
Tendons/surgery*
;
Biomechanical Phenomena
;
Chondrocytes/transplantation*
;
Tendon Injuries/surgery*
;
Tensile Strength
3.Analysis of clinical characteristics and risk factors for delayed diagnosis of tuberculosis in children
Yilin WANG ; Qi SUN ; Zhuo QIAN ; Jingyue LI ; Shiyue MEI ; Hengmiao GAO ; Junwen YANG ; Zhipeng JIN
Chinese Journal of Infection and Chemotherapy 2024;24(5):507-514
Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1%.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children>5 years old(P<0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough>2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P<0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P<0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95%CI:1.677-29.754)],mixed infection(OR=3.812,95%CI:1.185-12.260),severe disease(OR=3.697,95%CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95%CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.
4.Effect of galvanic vestibular stimulation on stroke patients with lateropulsion
Xiang GONG ; Menghuan WANG ; Cunshu WU ; Junwen CHEN ; Yue XIAO ; Yun YANG ; Wanting SUN ; Jun LU ; Guangxu XU
Chinese Journal of Rehabilitation Theory and Practice 2024;30(2):210-216
ObjectiveTo investigate the effect of galvanic vestibular stimulation on stroke patients with lateropulsion. MethodsFrom February to October, 2023, 30 stroke patients with lateropulsion in the First Affiliated Hospital of Nanjing Medical University were divided into control group (n = 15) and experimental group (n = 15) randomly. The control group received routine rehabilitation and sham galvanic vestibular stimulation, and the experimental group received routine rehabilitation and true galvanic vestibular stimulation, for two weeks. They were assessed with Scale for Contraversive Pushing (SCP), subjective visual vertical (SVV), Line Cancellation Test (LCT), Star Cancellation Test (SCT), Berg Balance Scale (BBS), Holden Functional Ambulation Category (FAC) and Barthel Index (BI) before and after treatment. ResultsAll the indexes improved in both groups after intervention (|t| > 2.461, Z > 3.000, P < 0.05), except the SVV orientation, SVV certainty and SCT in the control group; while the SCP, SVV certainty, LCT and FAC were better in the experimental group than in the control group (|t| > 2.189, Z = -2.862, P < 0.05), and the differences before and after intervention were better in the experimental group than in the control group (|t| > 2.382, P < 0.05), except LCT. SCP was correlated with SVV orientation, SVV certainty, SCT, BBS, BI and FAC (|r| > 0.381, P < 0.05). ConclusionGalvanic vestibular stimulation can improve the lateropulsion, balance, walking function and activities of daily living in stroke patients, which may be related to improvement for spatial cognitive function, especially vertical perception.
5.Protective effects of cinnamaldehyde on benzene-induced immune and oxidative stress injury in mice
Mengyang LI ; Gui WANG ; Yamei QIAO ; Pingyu WANG ; Min JIN ; Dong YANG ; Junwen LI
Military Medical Sciences 2024;48(1):44-51
Objective To investigate the effects of cinnamaldehyde,the main active component of cinnamon,on benzene-induced immune injury in mice and the related mechanism.Methods Forty male BALB/c mice were randomly divided into the control group,model group(benzene 500 mg/kg),cinnamaldehyde low,medium and high dose groups(5,25,50 mg/kg),with 8 mice in each group.Except the control group,mice in each group were treated with benzene by intragastric administration daily to induce immune and oxidative stress damage,but the intervention group was treated with cinnamaldehyde 5 times/week for 3 weeks.After medication,peripheral blood was collected 24 h after the last gavage for blood cell count,and the changes in body weight of mice in each group were observed.The pathological structure of the spleen and thymus was observed via hematoxylin-eosin(HE)staining.Peripheral blood mononuclear cells(PBMCs)of mice were extracted and the amounts of reactive oxygen species(ROS)and ATP in mitochondria were measured.Plasma levels of malondialdehyde(MDA)were measured using the barbituric acid method,the activity of glutathione peroxidase(GSH-PX)in plasmawith the dithiodinitrobenzoic acid methodand the activity of total superoxide dismutase(SOD)in plasma using the hydroxylamine method.Results After exposure to benzene,the body weight of the model group became lower(P<0.05).The spleen and thymus were damaged,and the indexes of the spleen and thymus were decreased(P<0.05).Counts of peripheral white blood cells and lymphocyteswere decreased(P<0.05).The activities of GSH and SOD in plasma were decreased(P<0.05),but the content of MDA was increased(P<0.05).The amount of mitochondrial ROS in PBMC was increased,while the ATP content was decreased(P<0.05).The weight of mice increased after treatment with cinnamaldehyde.The spleen and thymus tissues recovered well,and the indexes of the spleen and thymus were increased(P<0.05).Counts of peripheral white blood cells and lymphocytesin the high dose cinnamaldehyde group were increased(P<0.05).The activities of GSH and SOD in plasma were increased,while the content of MDA was decreased(P<0.05).The amount of mitochondrial ROS in PBMC was decreased,but the ATP content was increased(P<0.05).Treatment with cinnamaldehyde could alleviate the damage to the mitochondrial function of PBMC induced by benzene in mice,and 50 mg/kg was the best dose(P<0.05).The therapeutic effect of cinnamaldehyde had a dose-response relationship.Conclusion Cinnamaldehyde can inhibit benzene-induced immune injury and oxidative stress injury in mice by delivering an antioxidant effect and improving mitochondrial enhancement of PBMC.
6.Exploration on the mechanism of Jianpi Qingchang Decoction in the treatment of ulcerative colitis with network pharmacology, bioinformatics, molecular docking and experimental verification
Manting LIU ; Yanping DU ; Dongqiang LUO ; Qingyi YANG ; Jiayu WU ; Qiaoming FAN ; Huilian CAI ; Chuhong LIANG ; Yan LI ; Junwen OU
International Journal of Traditional Chinese Medicine 2024;46(7):889-897
Objective:To explore the mechanism of Jianpi Qingchang Decoction in the treatment of UC by integrating network pharmacology, bioinformatics, molecular docking and experimental verification.Methods:The effective components and targets of Jianpi Qingchang Decoction were obtained from TCMSP database, and UC data sets GSE16879, GSE48958 and GSE75214 were obtained from GEO database, and differentially expressed genes were screened; intersection targets were obtained through Venn diagram, and GO function and KEGG pathway enrichment analysis was performed. An intersection target PPI network was constructed using STRING database and topology analysis was performed; hub genes were screened through lasso regression and the expression consistency of core targets in the dataset was verified through logistic regression. A UC mouse model was established and hub genes were validated.Results:A total of 213 drug targets of Jianpi Qingchang Decoction were obtained, and 499 common intersection targets of GSE16879, GSE48958 and GSE75214 were obtained by differential gene expression analysis. Thirty intersection targets of Jianpi Qingchang Decoction and UC were obtained, mainly acting on IL-17 signaling pathway, TNF signaling pathway, AGE-RAGE signaling pathway in diabetic complications, etc. PPI network topology analysis obtained 7 common intersection targets, including PTGS2, IL-1B, IL-6, MMP9, CXCL8, CCL2 and MMP2. IL-6 and MMP2 were selected as hub genes by lasso regression. Logistics regression analysis showed that IL-6 and MMP2 were risk factors for the disease. Compared with the model group, the expressions of IL-6 and MMP2 mRNA and protein in the colon tissue of the TCM group decreased ( P<0.05), and the morphology of colon tissue was improved compared with the model group. Conclusion:IL-6 and MMP2 are risk factors for UC, the therapeutic effect of Jianpi Qingchang Decoction is to mediate Il-17 signal pathway, TNF signal pathway and AGE-RAGE signal pathway in diabetic complications through the targets of IL-6, and MMP2, thereby treating UC.
7.Advances in CRISPR-Cas12a in detection of foodborne pathogenic bacteria
Zishu LAN ; Tianjiao CHEN ; Junwen LI ; Min JIN ; Dong YANG
Military Medical Sciences 2024;48(6):474-480
Foodborne pathogens make much difference to food safety,and troops are also at risk of infection during military operations and daily lives,so there is an urgent need for highly sensitive and rapid detection technologies.In recent years,with the continuous development of clustered regularly interspaced short palindromic repeats(CRISPR)technology,the CRISPR-Cas system with trans-cutting activity has received increasing attention.This paper outlines the basic principles of CRISPR-Cas12a-based detection technology and conventional signal readout technologies.It also analyzes the current status and developmentsof CRISPR-Cas12a in detecting foodborne pathogenic bacteria.The challenges to and prospects of this technology are also described.
8.Analysis of clinical characteristics and risk factors for delayed diagnosis of tuberculosis in children
Yilin WANG ; Qi SUN ; Zhuo QIAN ; Jingyue LI ; Shiyue MEI ; Hengmiao GAO ; Junwen YANG ; Zhipeng JIN
Chinese Journal of Infection and Chemotherapy 2024;24(5):507-514
Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1%.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children>5 years old(P<0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough>2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P<0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P<0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95%CI:1.677-29.754)],mixed infection(OR=3.812,95%CI:1.185-12.260),severe disease(OR=3.697,95%CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95%CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.
9.Analysis of clinical characteristics and risk factors for delayed diagnosis of tuberculosis in children
Yilin WANG ; Qi SUN ; Zhuo QIAN ; Jingyue LI ; Shiyue MEI ; Hengmiao GAO ; Junwen YANG ; Zhipeng JIN
Chinese Journal of Infection and Chemotherapy 2024;24(5):507-514
Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1%.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children>5 years old(P<0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough>2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P<0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P<0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95%CI:1.677-29.754)],mixed infection(OR=3.812,95%CI:1.185-12.260),severe disease(OR=3.697,95%CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95%CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.
10.Analysis of clinical characteristics and risk factors for delayed diagnosis of tuberculosis in children
Yilin WANG ; Qi SUN ; Zhuo QIAN ; Jingyue LI ; Shiyue MEI ; Hengmiao GAO ; Junwen YANG ; Zhipeng JIN
Chinese Journal of Infection and Chemotherapy 2024;24(5):507-514
Objective To summarize the clinical characteristics of delayed diagnosis of tuberculosis in children,analyze the risk factors of delayed diagnosis,and support early diagnosis of tuberculosis in children.Methods This is a retrospective analysis based on the clinical data of tuberculosis patients admitted to the Children's Hospital Affiliated to Zhengzhou University from January 2015 to February 2023.The clinical characteristics of children were analyzed in terms of age group.According to the definition of diagnosis delay,the patients were assigned to delayed group and non-delayed group.Univariate analysis and multivariate logistic regression were used to analyze the risk factors for diagnosis delay.Results A total of 82 children with tuberculosis were included(46 cases in delayed diagnosis group and 36 cases in non-delayed diagnosis group).The rate of diagnosis delay was 56.1%.The incidence of acute miliary pulmonary tuberculosis and tuberculous meningitis was significantly higher in children ≤5 years old than that in children>5 years old(P<0.05).Diagnosis delay was associated with significantly higher prevalence of chronic fever,cough>2 weeks,growth retardation and significantly longer duration of empirical antibiotic use compared to the children without diagnosis delay(P<0.05).Univariate analysis showed that patient origin,contact history,mixed infection,tuberculosis type,molecular biological assay and severe disease were related to the delay of TB diagnosis(P<0.05).Multivariate logistic regression analysis showed that patient origin[≥3 clinic visits(OR=7.064,95%CI:1.677-29.754)],mixed infection(OR=3.812,95%CI:1.185-12.260),severe disease(OR=3.697,95%CI:1.081-12.646)]were risk factors for diagnosis delay in children.Molecular biological assay(OR=4.642,95%CI:1.318-16.345)was a protective factor.Conclusions The clinical symptoms of tuberculosis in children are atypical.Delayed diagnosis of tuberculosis is common.Multiple clinic visits,mixed infection,and severe disease are the risk factors for diagnosis delay.Tuberculosis should be taken into account for the children with chronic fever,cough and growth retardation who have failed to respond to adequate therapy with third-generation cephalosporin and carbapenems.Molecular biological assay is helpful for early diagnosis of tuberculosis in children with negative sputum smear.

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