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.

Objective:To analyze the expression level of protein arginine methyltransferase 5 (PRMT5) in pancreatic cancer tissues and its correlation with prognosis using bioinformatics methods, and to explore its potential mechanisms.Methods:Expression analysis of the PRMTs family members was performed based on the gene expression profiles of 178 pancreatic cancer tissues from the Gene Expression Profiling Interactive Analysis (GEPIA) database and 171 normal pancreatic tissues from the TCGA and GTEx databases. Using the median expression level of PRMTs family members in pancreatic cancer tissues as the cutoff, patients were divided into high-expression and low-expression groups, and Kaplan-Meier curves for overall survival (OS) and disease-free survival (DFS) were plotted. The correlation between PRMT5 expression and the expression of oncogenes such as KRAS, TP53, BRCA1, BRCA2, and SLC39A4 was analyzed. Functional enrichment analysis was conducted on genes similar to PRMT5, and a protein-protein interaction (PPI) network was constructed to analyze the interaction relationships among these similar genes. Pancreatic cancer PANC1 and AsPC-1 cells cultured in standard medium served as the control group, while PANC1 and AsPC-1 cells cultured in medium supplemented with the PRMT5 inhibitor EPZ015666 served as the intervention group. Cell viability was assessed using the CCK-8 assay, and cell cycle progression was analyzed by flow cytometry.Results:The expression level of PRMT5 in pancreatic cancer tissues was significantly higher than that in normal pancreatic tissues and showed a significant negative correlation with both OS and DFS. Patients with high PRMT5 expression had a shorter median survival time compared to those with low expression (17.2 months vs 19.5 months). PRMT5 expression was significantly positively correlated with the expression of oncogenes KRAS, TP53, BRCA1, BRCA2, SLC39A4, and KLF5. Genes similar to PRMT5 were primarily enriched in cell cycle-related signaling pathways, and NOP58 identified as a hub gene in the PPI network. Compared to the control group, the proliferation activity of PANC1 and AsPC-1 cells in the intervention group was significantly reduced [(67.3±1.9)% vs (100±4.4)% for PANC1; (60.5±2.7)% vs (100.0±1.7)% for AsPC-1], and the proportion of cells in the G1 phase was significantly increased [(51.6±0.7)% vs (35.3±2.7)% for PANC1; (51.2±0.9)% vs (29.7±2.2)% for AsPC-1]. All these differences were statistically significant (all P values <0.05). Conclusions:High expression of PRMT5 was closely associated with poor prognosis in pancreatic cancer patients, and it may contribute to pancreatic cancer progression by regulating the cell cycle.

Objective:To analyze the characteristics of the injury of knee ligament and cartilage in pediatric patients after acute traumatic lateral patellar dislocation based on magnetic resonance imaging (MRI). Methods:Clinical data of 68 pediatric patients with acute traumatic lateral patellar dislocation admitted to The Second Hospital of Tangshan from September,2020 to September,2023 were retrospectively analyzed. All children underwent MRI scan on knee joint. These children were divided into partial tear group (85 cases) and complete tear group (41 cases) according to injury degree. In addition,the location and characteristic of the medial patellofemoral ligament (MPFL) injury and cartilage injury were analyzed. Results:All 126 children had MPFL injury,including 85 cases of partial tear and 41 cases of complete tear. Among the partial tears,34 cases occurred only on the patellar side,14 cases only on the femoral side,9 cases only in the middle segment,and 28 cases had multiple-site injuries. Among the complete tears,27 cases occurred only on the patellar side,7 cases only on the femoral side,4 cases only in the middle segment,and 3 cases had multiple-site injuries. The number of each degree of partial MPFL injury was higher than that of complete injury,and the difference was statistically significant (x2=7.596,10.886,P<0.05). Among the 126 children,91 cases had VMO injury,and the degree of VMO injury was positively correlated with the degree of MPFL injury (r=0.339,P=0.006). Among the 126 children with acute traumatic lateral patellar dislocation,119 cases had osteochondral injury,with a total of 174 injured sites. The sites of grade 1 injury were mainly on the patellar side,while those of grades 2,3,and 4 injuries were mainly multiple-site injuries. Conclusion:Most of acute traumatic lateral patellar dislocation complicate MPFL injury and cartilage injury in pediatric patients,which mainly focus on patellar side of injury and multiple injury. There are no differences in injury site and degree between different genders. MPFL injury mostly complicates VMO injury,which injury degree is positively correlation with MPFL.

Objective:To analyze the characteristics of the injury of knee ligament and cartilage in pediatric patients after acute traumatic lateral patellar dislocation based on magnetic resonance imaging (MRI). Methods:Clinical data of 68 pediatric patients with acute traumatic lateral patellar dislocation admitted to The Second Hospital of Tangshan from September,2020 to September,2023 were retrospectively analyzed. All children underwent MRI scan on knee joint. These children were divided into partial tear group (85 cases) and complete tear group (41 cases) according to injury degree. In addition,the location and characteristic of the medial patellofemoral ligament (MPFL) injury and cartilage injury were analyzed. Results:All 126 children had MPFL injury,including 85 cases of partial tear and 41 cases of complete tear. Among the partial tears,34 cases occurred only on the patellar side,14 cases only on the femoral side,9 cases only in the middle segment,and 28 cases had multiple-site injuries. Among the complete tears,27 cases occurred only on the patellar side,7 cases only on the femoral side,4 cases only in the middle segment,and 3 cases had multiple-site injuries. The number of each degree of partial MPFL injury was higher than that of complete injury,and the difference was statistically significant (x2=7.596,10.886,P<0.05). Among the 126 children,91 cases had VMO injury,and the degree of VMO injury was positively correlated with the degree of MPFL injury (r=0.339,P=0.006). Among the 126 children with acute traumatic lateral patellar dislocation,119 cases had osteochondral injury,with a total of 174 injured sites. The sites of grade 1 injury were mainly on the patellar side,while those of grades 2,3,and 4 injuries were mainly multiple-site injuries. Conclusion:Most of acute traumatic lateral patellar dislocation complicate MPFL injury and cartilage injury in pediatric patients,which mainly focus on patellar side of injury and multiple injury. There are no differences in injury site and degree between different genders. MPFL injury mostly complicates VMO injury,which injury degree is positively correlation with MPFL.

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.

Objective:To analyze the expression level of protein arginine methyltransferase 5 (PRMT5) in pancreatic cancer tissues and its correlation with prognosis using bioinformatics methods, and to explore its potential mechanisms.Methods:Expression analysis of the PRMTs family members was performed based on the gene expression profiles of 178 pancreatic cancer tissues from the Gene Expression Profiling Interactive Analysis (GEPIA) database and 171 normal pancreatic tissues from the TCGA and GTEx databases. Using the median expression level of PRMTs family members in pancreatic cancer tissues as the cutoff, patients were divided into high-expression and low-expression groups, and Kaplan-Meier curves for overall survival (OS) and disease-free survival (DFS) were plotted. The correlation between PRMT5 expression and the expression of oncogenes such as KRAS, TP53, BRCA1, BRCA2, and SLC39A4 was analyzed. Functional enrichment analysis was conducted on genes similar to PRMT5, and a protein-protein interaction (PPI) network was constructed to analyze the interaction relationships among these similar genes. Pancreatic cancer PANC1 and AsPC-1 cells cultured in standard medium served as the control group, while PANC1 and AsPC-1 cells cultured in medium supplemented with the PRMT5 inhibitor EPZ015666 served as the intervention group. Cell viability was assessed using the CCK-8 assay, and cell cycle progression was analyzed by flow cytometry.Results:The expression level of PRMT5 in pancreatic cancer tissues was significantly higher than that in normal pancreatic tissues and showed a significant negative correlation with both OS and DFS. Patients with high PRMT5 expression had a shorter median survival time compared to those with low expression (17.2 months vs 19.5 months). PRMT5 expression was significantly positively correlated with the expression of oncogenes KRAS, TP53, BRCA1, BRCA2, SLC39A4, and KLF5. Genes similar to PRMT5 were primarily enriched in cell cycle-related signaling pathways, and NOP58 identified as a hub gene in the PPI network. Compared to the control group, the proliferation activity of PANC1 and AsPC-1 cells in the intervention group was significantly reduced [(67.3±1.9)% vs (100±4.4)% for PANC1; (60.5±2.7)% vs (100.0±1.7)% for AsPC-1], and the proportion of cells in the G1 phase was significantly increased [(51.6±0.7)% vs (35.3±2.7)% for PANC1; (51.2±0.9)% vs (29.7±2.2)% for AsPC-1]. All these differences were statistically significant (all P values <0.05). Conclusions:High expression of PRMT5 was closely associated with poor prognosis in pancreatic cancer patients, and it may contribute to pancreatic cancer progression by regulating the cell cycle.

Objective:To study the inhibitory effect of endothelial progenitor cells (EPCs) on aortic injury in mice with systemic lupus erythematosus (SLE) arteriosclerosis.Methods:APOE -/- mice were injected with norphytane and high fat diet to establish lupus vascular injury model. Then the mice were divided into normal control group (ND group), high fat diet group (HFD group), high fat diet+ SLE vascular injury group (HFD+ SLE group), high fat diet+ SLE vascular injury+ hydroxychloroquine treatment group (HFD+ SLE+ Hydro group), high fat diet+ SLE vascular injury+ EPCs treatment group (HFD+ SLE+ EPCs group). At the end of the experiment, urine, blood and aortic tissues of mice in each group were collected, and the content of urinary protein and the depth of serum type I interferon (IFN-Ⅰ) were detected by enzyme linked immunosorbent assay (ELISA). The activation of cyclic guanosine monophosphate synthase/interferon gene stimulating factor/type I interferon (cGAS/STING/IFN-Ⅰ) pathway, the levels of inflammatory factors, adhesion fractions and chemokines in the aorta of mice in each group were detected by immunohistochemistry and Western blotting (WB). The lipid deposition in the aorta was detected by oil red staining. Results:The results of ELISA showed that the levels of urinary protein and serum IFN-Ⅰ in HFD+ SLE group were higher than those in normal control group. EPCs treatment could reduce the levels of urinary protein and serum IFN-Ⅰ in SLE atherosclerotic mice. WB results showed that the expression of CD19, CD68, CD34, chemokine, cGAS, p-STING, phosphorylated TANK binding kinase 1 (p-TBK1), phosphorylated interferon regulatory factor 3 (p-IRF3) and IFN-Ⅰ increased in HFD+ SLE group, and hydroxychloroquine and EPCs decreased the levels of these factors. CGAS/STING/IFN-Ⅰ signal pathway is involved in the occurrence and development of atherosclerosis in SLE patients; both EPCs and hydroxychloroquine can inhibit the activation of cGAS/STING/IFN-Ⅰ signal, thus reducing atherosclerosis in SLE mice.Conclusions:cGAS/STING/IFN-Ⅰ pathway is involved in the development of SLE atherosclerosis. EPCs can inhibit the activation of cGAS/STING signal, reduce the expression and secretion of IFN-Ⅰ, and then reduce vascular inflammation and inhibit the development of SLE-related atherosclerosis.

Objective:To explore the manifestations of magnetic resonance imaging(MRI)on acute traumatic lateral patellar dislocation of children and adolescents.Methods:MRI images of the affected side and healthy side of 110 children and adolescents with acute traumatic lateral patellar dislocation who were treated in the Second Hospital of Tangshan from July 2016 to April 2022 were retrospectively analyzed.The correlation of the medial patellofemoral ligament(MPFL)on the affected side between the tear location and tear degree was compared and analyzed.According to the cartilage injury grading system of international cartilage repair society(ICRS),the articular cartilage injury of affected side was divided into 4 grades,and the correlation between the articular cartilage injury grading and the articular cartilage injury location was compared and analyzed.Three methods of measuring patellar height,which included Insall-Salvati index(ISI),patellotrocheal index(PTI)and Caton-Deschamps index(CDI),were used to compare and analyze the differences of MRI data of patellar height between the affected side of knee joint and the healthy knee joint of pediatric children.Results:In 110 patients with MPFL injury,73 cases were partial tears and 37 cases were complete tears.There was significant difference in the injury at MPFL patellar attachment location between complete tears(22 cases)and partial tears(19 cases)(x2=11.740,P<0.05),and there was significant difference in MPFL multiple injury between partial tear(40 cases)and complete tear(8 cases)(x2=10.990,P<0.05).There were no significant differences in the injuries of MPFL middle segment and the origin of femur between partial tears and complete tears.There were 162 lesions in 110 cases with osteochondral injury,which included 55 lesions on the patellar side,33 lesions on the femur side and 74 multiple lesions according to the part of injury.There was significant difference between the location of osteochondral injury and injury grading(x2=38.153,P<0.05).The ISI,PTI and CDI on the affected side were significantly lower than those on the healthy side in pediatric patients with acute traumatic lateral patellar dislocation of children and adolescents(x2=30.853,12.586,19.656,P<0.05),respectively.Conclusion:The complete tears are more likely to occur in the injury of MPFL patellar attachment location of pediatric patients with acute traumatic lateral patellar dislocation of children and adolescents,while multiple injuries are more likely to be in partial tears.There is correlation between the articular cartilage injury grading and the articular cartilage injury location in pediatric patients.MRI is an important method to diagnose MPFL injury,which can provide more evidence for clinical treatment.

Objective:To investigate the impact of body mass index (BMI) on the postoperative complications of open pancreaticoduodenectomy (OPD).Methods:The preoperative, operative and postoperative data of 234 patients who underwent OPD in the Department of the Hepatobiliary and Pancreatic Surgery of First Affiliated Hospital affiliated to Naval Medical University from January 2015 to June 2016 were analyzed retrospectively. According to the Asian BMI standard, the patients were divided into three groups: underweight group (BMI<18.5 kg/m 2, n=32), normal weight group (18.5 kg/m 2≤BMI<23.0 kg/m 2, n=110) and overweight group (BMI≥23.0 kg/m 2, n=92). Normal weight group was compared with underweight group and overweight group, respectively, to analyze the relationship between BMI and intraoperative parameters and major postoperative complications of OPD. Results:The incidence of diabetes in underweight group was lower than that in normal weight group, and the proportion of ASA score 3 in underweight group was higher than that in normal weight group, and there were significantly statistical differences (both P value <0.05). There was no significant difference on the other variables between underweight group, normal weight group and overweight group. The operation time, intraoperative hemorrhage volume >800 ml and intraoperative blood transfusion rate were not statistically different between underweight group and normal weight group, but overweight group had obviously higher intraoperative blood transfusion rate than normal weight group and the difference was statistically significant ( P<0.05). Underweight group had more postoperative intraperitoneal hemorrhage and postoperative blood transfusion rate than normal weight group, and the readmission rate in underweight group was less than that in normal weight group; the incidence of clinically related-post operative pancreatic fistula, postoperative infection, gastrointestinal bleeding and delayed gastric emptying in overweight group were significantly higher than those in normal weight group, and there were significantly statistical differences (all P value <0.05). In underweight group, normal weight group and overweight group, the average length of hospital stay were 9.9 days, 11.3 days, 15 days, and the total hospitalization expenses were 63663.04 yuan, 66241.78 yuan and 80484.31 yuan, respectively. Conclusions:Compared to normal weight patients, the difficulty of OPD in underweight patients does not increase, while the difficulty of OPD in overweight patients increases. Underweight and overweight could both increase the postoperative complications of OPD to some extent.

Objective:Cerebellopontine angle(CPA)tumors are a common cause of secondary trigeminal neuralgia(TN),characterized by their concealed location,slow progression,and difficulty in early detection.This study aims to explore the clinicopathological characteristics of patients with secondary TN due to CPA tumors to enhance understanding and management of secondary TN. Methods:A retrospective analysis was conducted on clinical data and pathological results of 116 patients with CPA tumor-related TN treated at Xiangya Hospital of Central South University from January 1,2017 to December 31,2022.The study analyzed the relationship of tumor pathological types with clinical manifestations,tumor location,surgical methods,and treatment outcomes. Results:Among the cases,95.7％(111/116)were benign tumors,3.4％(4/116)were malignant tumors,and 0.9％(1/116)were borderline tumors.Benign tumors were predominantly acoustic neuromas,meningiomas,and schwannomas.Among the patients,46.6％(54/116)presented with isolated TN,while 53.4％(62/116)exhibited other associated symptoms depending on factors such as tumor growth location and rate.The complete resection rate in this group was over 90％,with 41.4％(48/116)of patients undergoing concurrent microvascular decompression after tumor resection,predominantly for schwannomas.The overall effective rate of surgical treatment reached 93.9％,with schwannomas showing higher efficacy rates compared with acoustic neuromas and meningiomas(P＜0.05).The recurrence rate of acoustic neuromas was significantly higher than that of meningiomas and schwannomas(P＜0.05). Conclusion:CPA tumors are a major cause of secondary TN,predominantly benign,with occasional underdiagnosed malignant tumors.Early diagnosis and treatment significantly impact prognosis.Different tumor types vary in clinical symptoms,surgical approaches,and treatment efficacy.Surgical strategies should balance tumor resection extent and neural function preservation,with microvascular decompression as necessary.