OBJECTIVE: To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening. METHODS: A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005). RESULTS: The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%. CONCLUSION The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
Humans ; Thalassemia/diagnosis* ; Software ; Female ; Genetic Testing/methods* ; Male ; Mutation ; Adult ; Genotype ; ROC Curve ; Risk Assessment

OBJECTIVE To investigate the effects and mechanisms of Lycium ruthenicum Murr. in improving sleep. METHODS Network pharmacology was employed to identify the active components of L. ruthenicum and their associated disease targets， followed by enrichment analysis. A caffeine‑induced zebrafish model of sleep deprivation was established ， and the zebrafish were treated with L. ruthenicum Murr. extract （LRME） at concentrations of 0.1， 0.2 and 0.4 mg/mL， respectively； 24 h later， behavioral changes of zebrafish and pathological alterations in brain neurons were subsequently observed. The levels of inflammatory factors [interleukin-6 （IL-6）， IL-1β， IL-10， tumor necrosis factor-α （TNF-α）]， oxidative stress markers [superoxide dismutase （SOD）， malondialdehyde （MDA）， glutathione peroxidase （GSH-Px）， catalase （CAT）]， and neurotransmitters [5- hydroxytryptamine （5-HT）， γ-aminobutyric acid （GABA）， glutamic acid （Glu）， dopamine （DA）， and norepinephrine （NE）] were measured. The protein expression levels of protein kinase B1 （AKT1）， phosphorylated AKT1 （p-AKT1）， epidermal growth factor receptor （EGFR）， B-cell lymphoma 2 （Bcl-2）， sarcoma proto-oncogene，non-receptor tyrosine kinase （SRC）， and heat shock protein 90α family class A member 1 （HSP90AA1） in the zebrafish were also determined. RESULTS A total of 12 active components and 176 intersecting disease targets were identified through network pharmacology analysis. Among these， apigenin， naringenin and others were recognized as core active compounds， while AKT1， EGFR and others served as key targets； EGFR tyrosine kinase inhibitor resistance signaling pathway was identified as the critical pathway. The sleep improvement rates in zebrafish of LRME low-， medium-， and high-dose groups were 54.60%， 69.03% and 77.97%， 开发。E-mail：hjp_yft@163.com respectively， while the inhibition ratios of locomotor distance were 0.57， 0.83 and 0.95， respectively. Compared with the model group， the number of resting counts， resting time and resting distance were significantly increased/extended in LRME medium- and high-dose groups （P＜0.05）. Neuronal damage in the brain was alleviated. Additionally， the levels of IL-6， IL-1β， TNF-α， MDA， Glu， DA and NE， as well as the protein expression levels of AKT1， p-AKT1， EGFR， SRC and HSP90AA1， were markedly reduced （P＜0.05）， while the levels of IL-10， SOD， GSH-Px， CAT， 5-HT and GABA， as well as Bcl-2 protein expression， were significantly elevated （P＜0.05）. CONCLUSIONS L. ruthenicum Murr. demonstrates sleep-improving effects， and its specific mechanism may be related to the regulation of inflammatory responses， oxidative stress， neurotransmitter balance， and the EGFR tyrosine kinase inhibitor resistance signaling pathway.

Objective: To analyze the association between alcohol consumption and lumbar disc herniation (LDH), so as to provide a reference for the development of prevention and treatment strategies for LDH. Methods: From May to July 2022, permanent residents aged ≥18 years from eight counties (cities/districts) in Gansu Province were selected using a multistage stratified random sampling method. Data on basic characteristics, alcohol consumption in the past 30 days, hypertension, and diabetes mellitus were collected through questionnaire surveys. LDH was determined based on imaging findings, combined with disease history or clinical symptoms. Multivariable logistic regression model was used to analyze the association between alcohol consumption and LDH, with subgroup analyses conducted by gender, age, ethnicity, and altitude of residence. Propensity score matching (PSM) was utilized for sensitivity analysis. Results: A total of 4 545 individuals were surveyed. There were 2 026 (44.58%) males and 2 519 (55.42%) females. The mean age was (44.82±15.33) years. The study participants were predominantly of Han ethnicity, with 2 598 persons accounting for 57.17%. The altitude of residence was mainly above 3 500 m, with 1 941 persons accounting for 42.71%. There were 574 alcohol drinkers, accounting for 12.63%. LDH was detected in 1 035 cases, with a detection rate of 22.77%. Multivariable logistic regression analysis showed that after adjusting for gender, age, physical activity, and hypertension, compared to non-drinking residents, alcohol-consuming residents exhibited a 27.6% reduction in the risk of LDH (OR=0.724, 95%CI: 0.544-0.963). No significant interaction effects on LDH risk were observed between alcohol consumption and gender, age, ethnicity, or altitude of residence (all Pfor interaction >0.05). The results of the sensitivity analysis indicated that compared to non-drinking residents, alcohol-consuming residents exhibited a 38.8% reduction in the risk of LDH (OR=0.612, 95%CI: 0.382-0.976). Conclusion Alcohol consumption was statistically associated with a lower risk of LDH.

Objective To analyze the PLCβ4 gene mRNA expression and its clinical significance in hepatocellular carcinoma (HCC) based on TCGA database. Methods Based on the data on 424 clinical samples (including 374 cases of HCC tissues and 50 cases of nontumor liver tissues) in the TCGA database, Kaplan–Meier method, Cox regression analysis, and immune infiltration analysis were performed to evaluate the relationship between PLCβ4 gene and the clinical characteristics and survival prognosis of HCC patients. Correlation analysis between PLCβ4 gene and 24 types of immune cells was applied to investigate the relationship between PLCβ4 gene and immune cell infiltration and mRNA expression level of TP53 gene, a high-frequency mutation gene in HCC. In addition, paraffin sections of highly, moderately, and poorly differentiated tumor tissues and normal liver tissues from HCC patients were collected. The histopathological observation was carried out via HE staining method, and the expression levels of PLCβ4 and Ki-67 proteins in each clinical sample were verified through the immunohistochemical method. Results The expression level of PLCβ4 gene in HCC was significantly higher than that in normal tissues (P<0.01), and all patients in the PLCβ4 high-expression group had a significantly longer overall survival than those in the low-expression group (P<0.05), which suggested that PLCβ4 substantially affected the prognosis of HCC patients. Correlation analysis showed that the expression level of PLCβ4 gene was highly correlated with immune cell infiltration and the expression level of TP53 gene. As verified by clinical sample experiments, HE staining experiments and immunohistochemical results revealed that PLCβ4 gene expression in HCC tissue samples was significantly higher than that in normal tissues (P<0.001), and it was negatively correlated with the degree of differentiation. Conclusion PLCβ4 may serve as an independent prognostic factor in HCC and is expected to be a novel molecular target for HCC treatment.

Objective To evaluate the respective or synergistic value of cytoplasmic tryptophan-tRNA ligase(WARS1/SYWC)and adenosine deaminase(ADA)in diagnosing tuberculous pleural effusion(TPE).Methods A retrospective analysis was conducted on 120 patients with pleural effusion(64 cases of TPE,56 cases of non-TPE)admitted to the First Affiliated Hospital of Jinan University and its affiliated Shunde Hospital from January 2020 to December 2024.Pleural fluid SYWC levels were identified using enzyme-linked immunosorbent assay(ELISA).Univariate and multivariate logistic regression analyses were performed to identify diagnostic predictors,while receiver operating characteristic(ROC)curves were plotted to assess the diagnostic perfor-mance of individual and combined biomarkers.Results Compared to the non-TPE group,TPE group exhibited significantly younger age,lower pleural CEA,less serum CEA,and lower neutrophil-to-lymphocyte ratio(NLR),but significantly higher levels of pleural ADA,total protein,SYWC,and serum CRP(all P<0.05).Univariate analysis identified age,pleural CEA,carbohydrate antigen 199,ADA,SYWC,serum CEA,and NLR as potential predictors.Multivariate analysis confirmed pleural ADA(OR=1.064,95%CI:1.017～1.228)and SYWC(OR=6.695,95%CI:2.794～16.04)as independent diagnostic factors.At optimal cutoffs,SYWC(16.94 μg/L)demonstrated a sensitivity of 71.80%and specificity of 98.21%,while ADA(36.5 U/L)showed a sensitivity of 93.75%and a specificity of 89.29%.Combined detection increased the sensitivity to 95.56%,the specificity to 98.0%,and the accuracy to 97.87%.ROC analysis revealed an AUC of 0.973(95%CI:0.943～1.000)for the combination,outperforming ADA(0.897)and SYWC(0.938)alone.Conclusion The combi-nation of SYWC and ADA notably enhances diagnostic efficacy for TPE,providing high sensitivity and specificity as a reliable tool for clinical differentiation.

Objective To analyze effects of caragliflozin and empagliflozin on inflammatory markers,glucose and lipid metabolism and miR-144 expression in obese patients with type 2 diabetes mellitus(T2DM).Methods A total of 148 obese T2DM patients admitted to our hospital from June 2021 to May 2024 were selected and divided into the caragliflozin group and the empagliflozin group by random number table method.The two groups were treated with canagliflozin and empagliflozin on the basis of conventional treatment for 6 months.The inflammatory indicators,glucose metabolism indicators,lipid metabolism indicators,microRNA-144(miR-144)expression,body mass index(BMI),clinical efficacy and incidence of adverse reactions were compared between the two groups.Results After a total of 7 cases were excluded during the treatment period,there were 71 cases in the caragliflozin group and 70 cases in the empagliflozin group.After treatment,the levels of tumor necrosis factor-α,interleukin-6,C-reactive protein,fasting blood glucose(FBG),2 h postprandial blood glucose(2 h-PPG),glycosylated hemoglobin(HbA1c),triglyceride(TG),total cholesterol,low density lipoprotein cholesterol,BMI and miR-144 expression were lower than those before treatment in two groups of patients(P＜0.05),and the levels of FBG,2 h-PPG,HbA1c,TG and miR-144 expression were lower in the caragliflozin group than those of the empagliflozin group(P＜0.05).After treatment,high density lipoprotein cholesterol was higher than that before treatment in the two groups(P＜0.05),and that in the canagliflozin group was higher than the empagliflozin group(P＜0.05).There were no significant differences in the clinical efficacy and incidence of adverse reactions between the two groups after treatment(P＞0.05).Conclusion Both caragliflozin and empagliflozin have certain therapeutic efficacy and good safety for obese T2DM patients,and caragliflozin is more effective in improving glucose and lipid metabolism.

Objective:To explore the value of endorectal echodefecography（EDF）in the evaluation of functional anorectal disorders（FAD）.Methods:A total of 67 patients clinically diagnosed with FAD who underwent EDF at the Sixth Affiliated Hospital of Sun Yat-Sen University from September 2021 to August 2024 were retrospectively collected. EDF was performed using a combination of transrectal and transperineal scans. XRD was used as the reference standard.Results:The diagnostic accuracy，sensitivity，specificity，positive predictive value，and negative predictive value of EDF for common FADs were as follows：for rectocele，85.1%，84.6%，85.4%，78.6%，and 89.7%；for rectal intussusception，79.1%，50.0%，93.3%，78.6%，and 79.2%；for external rectal prolapse，94.0%，71.4%，100%，100%，and 93.0%；for anismus，82.1%，66.7%，82.8%，15.4%，and 98.1%；for perineal descent，65.7%，54.2%，72.1%，52.0%，and 52.0%.Conclusions:EDF is valuable for evaluating FAD，especially for external rectal prolapse and rectocele. It can serve as an effective complement to XRD and provide a non-invasive and safe imaging method for FAD diagnosis.

Objective To investigate the effect of circRNA-homeodomain-interacting protein kinase 2(circHIPK2)on angiotensinⅡ(AngⅡ)-induced apoptosis of vascular endothelial cells through the regulation of the miR-7-5p/transcription factor 4(TCF4)axis.Methods Human umbilical vein endothelial cells(HUVECs)were randomly divided into the control,model,negative control cotrans-fection,circHIPK2 knockdown,miR-7-5p overexpression,and circHIPK2 knockdown+miR-7-5p knockdown groups.Except for the control group,all other groups were administered 10 nmol/L Ang Ⅱ to establish a hypertensive injury model.The circHIPK2,miR-7-5p,and TCF4 mRNA expression levels were detected after transfection.Apoptosis,proliferation,mitochondrial membrane potential,reactive oxygen species(ROS),antioxidant enzymes,pro-inflammatory factors,and TCF4 protein expression were assessed.Results Compared with the control group,the expressions of circHIPK2 and TCF4 mRNA,cell apoptosis rate,relative expression of ROS,levels of IL-6,IL-1β,and IL-18,and expressions of Bax and TCF4 protein increased,and cell viability,miR-7-5p mRNA expression,mitochondrial mem-brane potential,activities of superoxide dismutase(SOD)and catalase(CAT),and Bcl-2 protein expression decreased in the model group(P＜0.05).Both circHIPK2 knockdown and miR-7-5p overexpression reversed Ang Ⅱ-induced pathological changes in vascular endothelial cells.miR-7-5p knockdown reduced the effect of circHIPK2 knockdown on pathological cellular changes in the model group.Conclusion circHIPK2 knockdown can weaken TCF4 expression by upregulating miR-7-5p,thereby reducing Ang Ⅱ-induced inflam-mation and oxidative stress in vascular endothelial cells and ultimately inhibiting cell apoptosis.

Atherosclerosis(AS)is a chronic inflammatory disease involving disorders of lipid and iron metabolism.The establishment of suitable animal models is required to further the study of the etiology,pathogenesis,prevention,and therapeutic measures of AS.The main animal models of AS related to iron and lipid metabolism are mice and miniature piglets,especially male ApoE-/-mice.Single-factor high-fat diet-induced iron and lipid metabolism disorders are a common type of AS model,manifesting as elevated blood lipid levels,large plaques and iron deposition in the aorta,and significant increases in serum and liver iron levels.This review compares the effects of different intervention factors on iron and lipid metabolism in AS animal models,and summarizes the method of establishing AS animal models using dietary induction,chemical intervention,and gene modification,to provide references and inspiration for future research into AS and metabolic diseases and the development of new drugs.

Objective To evaluate the respective or synergistic value of cytoplasmic tryptophan-tRNA ligase(WARS1/SYWC)and adenosine deaminase(ADA)in diagnosing tuberculous pleural effusion(TPE).Methods A retrospective analysis was conducted on 120 patients with pleural effusion(64 cases of TPE,56 cases of non-TPE)admitted to the First Affiliated Hospital of Jinan University and its affiliated Shunde Hospital from January 2020 to December 2024.Pleural fluid SYWC levels were identified using enzyme-linked immunosorbent assay(ELISA).Univariate and multivariate logistic regression analyses were performed to identify diagnostic predictors,while receiver operating characteristic(ROC)curves were plotted to assess the diagnostic perfor-mance of individual and combined biomarkers.Results Compared to the non-TPE group,TPE group exhibited significantly younger age,lower pleural CEA,less serum CEA,and lower neutrophil-to-lymphocyte ratio(NLR),but significantly higher levels of pleural ADA,total protein,SYWC,and serum CRP(all P<0.05).Univariate analysis identified age,pleural CEA,carbohydrate antigen 199,ADA,SYWC,serum CEA,and NLR as potential predictors.Multivariate analysis confirmed pleural ADA(OR=1.064,95%CI:1.017～1.228)and SYWC(OR=6.695,95%CI:2.794～16.04)as independent diagnostic factors.At optimal cutoffs,SYWC(16.94 μg/L)demonstrated a sensitivity of 71.80%and specificity of 98.21%,while ADA(36.5 U/L)showed a sensitivity of 93.75%and a specificity of 89.29%.Combined detection increased the sensitivity to 95.56%,the specificity to 98.0%,and the accuracy to 97.87%.ROC analysis revealed an AUC of 0.973(95%CI:0.943～1.000)for the combination,outperforming ADA(0.897)and SYWC(0.938)alone.Conclusion The combi-nation of SYWC and ADA notably enhances diagnostic efficacy for TPE,providing high sensitivity and specificity as a reliable tool for clinical differentiation.