Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

Five new flavan-4-ol glycosides jixueqiosides A-E (1-5) and two new flavan glycosides jixueqiosides F and G (6 and 7), along with twelve known flavan-4-ol glycosides (8-19), were isolated from the roots of Pronephrium penangianum. Comprehensive spectral analyses, X-ray single-crystal diffraction, and theoretical electronic circular dichroism (ECD) calculations established structures and absolute configurations. A single crystal structure of flavan-4-ol glycoside (14) was reported for the first time, while the characteristic ECD and NMR data for all isolated flavan-4-ol glycosides (1-5 , 8-19) were analyzed, establishing a set of empirical rules. Activity screening of these isolates showed that 8 and 9 could inhibit the proliferation of MDA-MB-231 and MCF-7 cells with IC₅₀ values of 7.93 ? 2.85 ?mol?L^-1 and 5.87 ? 1.58 ?mol?L^-1 (MDA-MB-231), and 2.21 ? 1.38 ?mol?L^-1 and 3.52 ? 1.55 ?mol?L^-1 (MCF-7), respectively. Western blotting and flow cytometry analyses demonstrated that 8 and 9 dose-dependently induced apoptosis in MDA-MB-231 cells by up-regulating BAX, activating caspase-3 and down-regulating BCL-2. Additionally, compound 8 affected autophagy-related proteins, increasing the ratio of LC3-II/LC3-I and Beclin-1 levels to inhibit MDA-MB-231 cell proliferation. Moreover, anti-inflammatory studies indicated that 2, 3, 7, 13, 14, and 18 moderately inhibited tumor necrosis factor-a (TNF-a), interleukin-6 (IL-6), and nitric oxide (NO) release.
Humans ; Plant Roots/chemistry* ; Glycosides/isolation & purification* ; Anti-Inflammatory Agents/isolation & purification* ; Flavonoids/isolation & purification* ; Cell Proliferation/drug effects* ; Antineoplastic Agents, Phytogenic/isolation & purification* ; Molecular Structure ; Apoptosis/drug effects* ; Cell Line, Tumor ; Tumor Necrosis Factor-alpha/immunology* ; Drugs, Chinese Herbal/pharmacology* ; Interleukin-6/immunology* ; Animals ; Mice

Objective: To examine the relationship among physical education core literacy, exercise self efficacy, physical self esteem and subjective exercise experience among middle school students, and to analyze the latent classes of exercise self efficacy, so as to provide evidence for enhancing adolescents subjective exercise experience. Methods: Using stratified cluster random sampling, 2 569 students from 12 provinces, autonomous regions or municipality directly under the central govement (Jiangxi, Guangdong, Hunan, Guizhou, Henan, Guangxi, Yunnan, Chongqing, Sichuan, Shandong, Hubei, Hebei) were surveyed from September to November in 2024 with Core Competency Scale of Physical Education, Subjective Exercise Experiences Scale, Exercise Self Efficacy Scale, and Physical Self esteem Scale. Pearson correlation analysis was conducted to explore the relationships among physical education core literacy, exercise self efficacy, physical self esteem, and subjective exercise experience. Mediation models with Bootstrap testing were employed to examine the mediating roles of exercise self efficacy and physical self esteem in the relationship between physical education core literacy and subjective exercise experience. Latent profile analysis (LPA) of exercise self efficacy was performed using Mplus 8.3. Results: Pearson correlation analysis revealed positive associations between physical education core literacy and exercise self efficacy ( r =0.21), physical self esteem ( r =0.38), and subjective exercise experience ( r =0.40); exercise self efficacy was positively correlated with physical self esteem ( r =0.25) and subjective exercise experience ( r =0.45); and physical self esteem was positively correlated with subjective exercise experience ( r =0.34) (all P <0.01). Mediation analysis indicated that physical education core literacy positively predicted subjective exercise experience ( β =0.41, P <0.05), with exercise self efficacy and physical self esteem serving as partial mediators (effect size=0.14, P <0.01), accounting for 34% of the total effect. LPA identified three latent classes of exercise self efficacy:low (14.71%, n =378), moderate (65.51%, n =1 683), and high (19.78%, n =508) exercise self efficacy groups. Conclusion Adolescents exercise self efficacy demonstrates heterogeneity, and both exercise self efficacy and physical self esteem mediate the relationship between physical education core literacy and subjective exercise experience.

Objectives:This study aims to evaluate the relationship between the triglyceride-glucose body mass index(TyG-BMI),the right pericoronary fat attenuation index(RCA-FAI),and prognosis in patients with coronary artery disease(CAD).Methods:This study included 513 CAD patients who underwent coronary computed tomography angiography(CCTA)and coronary angiography between April 2018 and June 2023.Data collection and parameter calculations were performed for all research variables.The patients were stratified into three groups based on TyG-BMI tertiles:T1 group(TyG-BMI≤207.02,n=171),T2 group(207.02

Objectives:This study aims to evaluate the relationship between the triglyceride-glucose body mass index(TyG-BMI),the right pericoronary fat attenuation index(RCA-FAI),and prognosis in patients with coronary artery disease(CAD).Methods:This study included 513 CAD patients who underwent coronary computed tomography angiography(CCTA)and coronary angiography between April 2018 and June 2023.Data collection and parameter calculations were performed for all research variables.The patients were stratified into three groups based on TyG-BMI tertiles:T1 group(TyG-BMI≤207.02,n=171),T2 group(207.02

Objective To conduct a visual analysis of research hotspots and development trends in stress ulcer(SU)from 2004 to 2024 using CiteSpace software.Methods Relevant SU literature published between January 1,2004,and May 7,2024,was retrieved from the Web of Science data-base and analyzed visually using CiteSpace software.Results A total of 623 articles were included in this study.The number of publications followed a wavy increase trend from 2004 to 2024.The au-thor with the highest number of publications was MOLLER M H,the institution with the most publica-tions was Copenhagen University Hospital in Denmark,and the country with the most publications was China.Keyword analysis revealed that SU research primarily focused on exploring pathogenesis and developing prophylactic and therapeutic drugs.Conclusion The pathogenesis of SU needs further elucidation.Research on drugs and prevention tailored to different mechanisms inducing SU,the im-pact of enteral nutrition on patient prognosis,and the effectiveness of traditional Chinese medicine in prevention and treatment are hotspots and development trends in future research.

Objective To Study the value of effected ejection fraction(eEF)in assessment of cardiac function in elderly patients with heart failure.Methods A total of 1 134 elderly inpatients in this hospital from January 2019 to December 2023 were selected as the research subjects.After admission,relevant examinations and tests were completed,and the cardiac function classification of the New York Heart Association(NYHA)was carried out.Sequential electrocardiogram(ECG)and echocardiogram examinations were completed before treatment.Age,under-lying diseases,left ventricular ejection fraction(LVEF),N-terminal pro-brain natriuretic peptide(NT-proB-NP),and QT interval(QTc)of the ECG were included for classification and statistics,and eEF was obtained,and the evaluation value of eEF on cardiac function was analyzed.Results The numbers of patients with NY-HA cardiac function grades Ⅰ—Ⅳ were 86,434,454 and 160,respectively,and LVEF decreased with the in-crease of the NHYA cardiac function grade.There was statistically significant differences in LVEF among dif-ferent NHYA cardiac function classifications(P＜0.05).The QTc of the patients was(434.71±40.96)ms,the eEF was(8.73±2.03)ms,and the ln(NT-proBN)was 7.05±1.70.QTc,eEF,and ln(NT-proBN)all in-creased with the increase of the NHYA cardiac function classification,and there were statistically significant differences in indicators above among different NHYA cardiac function classfications(P＜0.05).There was a low correlation between QTc of the ECG,age and cardiac insufficiency(r＜0.5,P＜0.05);there was a high correlation between eEF,LVEF,and ln(NT-proBNP)and cardiac insufficiency(r≥0.5,P＜0.05).Conclusion eEF still has discriminatory value for patients with heart failure with preserved ejection fraction,and it is a good indicator for evaluating the cardiac function of elderly patients with heart failure.

Objective This study aimed to investigate the relationship between malnutrition and coronary inflammation,and explore the interaction and mediating effects of coronary inflammation in the association between malnutrition and major adverse cardiovascular events(MACE).Methods A retrospective analysis was conducted on 428 patients diagnosed with coronary heart disease at the Central China Fuwai Hospital from May 2018 to July 2022.All patients underwent coronary angiography(CAG)and coronary computed tomography angiography(CCTA).The TCB index(triglycerides×total cholesterol×body weight)and the coronary fat attenuation index around the proximal right coronary artery(RCA-FAI)were used to assess patients' nutritional state and the degree of coronary inflammation,respectively.The study endpoint was MACE.We used linear regression models to analyze the correlation between TCBI and RCA-FAI,cox regression models to assess the correlation of TCBI and RCA-FAI with MACE,and mediation analysis to investigate whether RCA-FAI mediated the relationship between TCBI and MACE.Results A total of 428 patients were included in the study.There was a negative correlation between RCA-FAI and TCBI(r=-0.224,P<0.001).After adjusting for potential confounders,each standard deviation decrease in the TCBI index was associated with a 2.20 HU increase in RCA-FAI(95%CI:-3.40～-1.19,P<0.001).During a mean follow-up period of 2.15 years,51 MACE occurred.MACE risk in the low TCBI/high RCA-FAI group was 6.58 times higher than that in the high TCBI/low RCA-FAI group(adjusted HR=6.580,95%CI:2.237～19.360,P=0.001),and the interaction between TCBI and RCA-FAI was identified.Mediation analysis revealed that RCA-FAI mediated 37.5%of the associations between TCBI and MACE.Conclusions In patients with coronary artery disease,malnutrition is associated with increased coronary inflammation.There is a significant interaction between malnutrition and coronary inflammation in the risk of MACE,and coronary inflammation partially mediates the relationship between malnutrition and MACE.The combination of the TCBI index and RCA-FAI can help identify patients at high cardiovascular risk.Improving malnutrition and controlling coronary inflammation may provide addi-tional benefits for patients with coronary artery disease.

Objective This study aimed to investigate the relationship between malnutrition and coronary inflammation,and explore the interaction and mediating effects of coronary inflammation in the association between malnutrition and major adverse cardiovascular events(MACE).Methods A retrospective analysis was conducted on 428 patients diagnosed with coronary heart disease at the Central China Fuwai Hospital from May 2018 to July 2022.All patients underwent coronary angiography(CAG)and coronary computed tomography angiography(CCTA).The TCB index(triglycerides×total cholesterol×body weight)and the coronary fat attenuation index around the proximal right coronary artery(RCA-FAI)were used to assess patients' nutritional state and the degree of coronary inflammation,respectively.The study endpoint was MACE.We used linear regression models to analyze the correlation between TCBI and RCA-FAI,cox regression models to assess the correlation of TCBI and RCA-FAI with MACE,and mediation analysis to investigate whether RCA-FAI mediated the relationship between TCBI and MACE.Results A total of 428 patients were included in the study.There was a negative correlation between RCA-FAI and TCBI(r=-0.224,P<0.001).After adjusting for potential confounders,each standard deviation decrease in the TCBI index was associated with a 2.20 HU increase in RCA-FAI(95%CI:-3.40～-1.19,P<0.001).During a mean follow-up period of 2.15 years,51 MACE occurred.MACE risk in the low TCBI/high RCA-FAI group was 6.58 times higher than that in the high TCBI/low RCA-FAI group(adjusted HR=6.580,95%CI:2.237～19.360,P=0.001),and the interaction between TCBI and RCA-FAI was identified.Mediation analysis revealed that RCA-FAI mediated 37.5%of the associations between TCBI and MACE.Conclusions In patients with coronary artery disease,malnutrition is associated with increased coronary inflammation.There is a significant interaction between malnutrition and coronary inflammation in the risk of MACE,and coronary inflammation partially mediates the relationship between malnutrition and MACE.The combination of the TCBI index and RCA-FAI can help identify patients at high cardiovascular risk.Improving malnutrition and controlling coronary inflammation may provide addi-tional benefits for patients with coronary artery disease.

Objective:To analyze the clinicopathological features and differential diagnosis of large B-cell lymphoma with IRF4 rearrangement, aiming enhance its recognition and prevent misdiagnosis.Methods:The clinicopathological features, immunophenotype, and fluorescence in situ hybridization (FISH) results of six cases diagnosed with IRF4 rearrangement-positive B-cell lymphoma at the Affiliated Hospital of Xuzhou Medical University from 2015 to 2023 were retrospectively analyzed. Additionally, a comprehensive review of the literature was conducted.Results:Six patients with IRF4 rearrangement-positive large B-cell lymphoma were included. Patients 1 to 5 included three males and two females with a median age of 19 years ranging from 11 to 34 years. Four patients presented with head and neck lesions, while the other one had a breast nodule; all were in clinical Ann Arbor stages I to Ⅱ. Morphologically, entirely diffuse pattern was present in two cases, purely follicular pattern in one case, and diffuse and follicular patterns in other two cases. The tumor cells, predominantly centroblasts mixed with some irregular centrocytes, were of medium to large size, with a starry sky appearance observed in two cases. Immunophenotyping revealed all cases were positive for bcl-6 and MUM1, with a Ki-67 index ranging from 70% to 90%, and CD10 was positive in two cases. IRF4 rearrangement was confirmed in all cases by FISH analysis, with dual IRF4/bcl-6 rearrangements identified in two cases, leading to a diagnosis of LBCL-IRF4. Case 6, a 39-year-old female with a tonsillar mass and classified as clinical Ann Arbor stage Ⅳ, displayed predominantly diffuse large B-cell lymphoma (DLBCL) morphology with 20% high-grade follicular lymphoma characteristics. Immunohistochemistry showed negative CD10 and positive bcl-6/MUM1, with a Ki-67 index of approximately 80%. Triple rearrangements of IRF4/bcl-2/bcl-6 were identified by FISH, leading to a diagnosis of DLBCL with 20% follicular lymphoma (FL). All six patients achieved complete remission after treatment, with no progression or relapse during a follow-up period of 31-100 months.Conclusions:Large B-cell lymphoma with IRF4 rearrangement is a rare entity with pathological features that overlap with those of FL and DLBCL. While IRF4 rearrangement is necessary for diagnosing LBCL-IRF4, it is not specific and requires differentiation from other aggressive B-cell lymphomas with IRF4 rearrangement.