Over the past two decades, genome-wide association study(GWAS) has identified numerous genetic variants and loci associated with heritable diseases. With the gradual maturation and saturation of GWAS methodologies, transcriptome-wide association study(TWAS) offers a novel perspective by linkinggenetic phenotypes to gene expression levels. By integrating TWAS with other multi-omics analyses, researchers can gain a deeper understanding of heritable diseases. This article provides an overview of recent groundbreaking and representative TWAS methods and tools, analyzes their strengths and limitations, and discusses future trends in TWAS development.

OBJECTIVE To investigate the prevalence and influencing factors of potentially inappropriate medication （PIM） among the elderly in nursing homes in Urumqi based on three PIM screening tools， and to compare the applicability of different tools. METHODS A cross-sectional study design was adopted. Elderly individuals from six nursing homes in Urumqi were selected as the research subjects from May 2021 to September 2023. Demographic characteristics， disease burden and medication records of the elderly were collected. PIM screening was performed using the Chinese PIM criteria （2024 edition）， the American Geriatrics Society （AGS） Beers criteria （2023 edition）， and the Screening Tool of Older Person’S Prescriptions（STOPP）/Screening Tool to Alert to Right Treatment（START） （2023 edition）. Fleiss’s Kappa test was used to assess the consistency among the three screening tools， and multivariate Logistic regression was used to analyze the influencing factors of PIM. RESULTS The prevalence of PIM screened by the Chinese PIM criteria was 47.4% （323/682）， by the AGS Beers criteria was 43.4% （296/682）， and by the STOPP criteria was 50.9% （347/682）. The consistency among the three screening tools was low （Fleiss’s Kappa＝0.12， P ＜0.001）. Multivariate Logistic regression analysis showed that all three screening tools indicated that polypharmacy， aspirin use and psychotropic drug use were independent risk factors for PIM among elderly in nursing houses （all OR＞1， P ＜0.05）. CONCLUSIONS The prevalence of PIM among the elderly in nursing homes in Urumqi is relatively high. Polypharmacy， aspirin use and psychotropic drug use are common independent risk factors for PIM. There are differences in screening results among the three tools with low consistency. The Chinese PIM criteria can serve as a first-line tool for PIM screening in nursing homes.

Objective: To investigate the technical considerations and clinical value of plasma exchange (PE) in the treatment of cardiohepatic syndrome (CHS). Methods: A 76-year-old male patient with CHS was treated. The patient’s underlying conditions included valvular heart disease (severe mitral and tricuspid regurgitation), chronic heart failure (cardiac function class IV) complicated with liver failure [total bilirubin (TBIL) up to 590.6 μmol/L; alanine aminotransferase (ALT) up to 325.4 IU/L; aspartate aminotransferase (AST) up to 190.4 IU/L]. Due to poor response to conventional anti-heart failure and hepatoprotective therapy, three sessions of stepwise PE (total volume 6 400 mL) were performed. A "calcium-fluid balance-hemodynamics“ trinity monitoring system was established during treatment, comprising:1) prophylactic calcium supplementation (continuous calcium infusion at 5 mL/h initiated before PE); 2) dynamic blood gas monitoring (ionized calcium measured every 30-60 min with calcium dose adjusted accordingly); 3) individualized fluid balance setting (75%-90%); 4) standby norepinephrine (0.02-0.1 μg/kg/min). Results: Complications such as hypocalcemia (lowest 0.83 mmol/L) and hypotension (lowest 65/38 mmHg) occurred during treatment. Hemodynamics were stabilized by adjusting calcium supplementation, regulating fluid balance, and concomitant use of vasoactive agents. After treatment, B-type natriuretic peptide (BNP) decreased by 42.0% (from 7 122.53 pg/mL to 4 128.77 pg/mL), TBIL decreased by 69.7% (from 590.6 μmol/L to 178.7 μmol/L), ALT decreased by 91.8% (from 325.4 IU/L to 26.7 IU/L), and AST decreased by 83.2% (from 190.4 IU/L to 31.9 IU/L). Conclusion: PE based on the "calcium-fluid balance-hemodynamics" trinity monitoring system can improve cardiac and liver function in patients with CHS.

Objective: To accurately determine ABO blood groups through serological and molecular biological tests in patients whose forward typing was group O but who showed weak antibodies on one side of reverse typing, thereby ensuring precise transfusion. Methods: A total of 160 cases from 2023 to 2025 at Tianjin Blood Center, initially screened as O type with weak antibodies or missing antibodies on one side of reverse typing, were collected. Serological tests absorption-elution tests, and molecular biological tests were performed to accurately identify their ABO blood groups and ensure transfusion safety. Results: Among the 160 patients with forward typing as O type and weak antibodies on one side of reverse typing, 92 were identified as O type, 46 as ABO subtypes already named and recorded by ISBT (mainly including 18 cases of Ael02, 8 cases of AW37, and 9 cases of Bel03), 12 suspected as new alleles not yet recorded by ISBT (among which 5 were suspected to carry novel alleles that have not been recorded or reported in the literature), and 10 were suspected as weakened A/B antigens. Conclusion: In clinical transfusion, attention should be paid to cases with ABO forward-reverse discrepancy, where forward typing is O type and reverse typing shows weak antibodies on one side. These cases may involve ABO subtypes, and further testin is necessary to accurately determine the ABO blood group, achieve precise transfusion, and avoid blood wastage.

Hereditary hemochromatosis （HH） is a hereditary disease characterized by iron overload resulting from mutations in genes involved in iron metabolism. Type ⅣA HH， also known as classical ferroportin disease， is caused by loss-of-function mutations in the SLC40A1 gene and has the clinical manifestations of a significant increase in serum ferritin， normal or low transferrin saturation， and marked iron deposition in the spleen. This article reports a case of type ⅣA HH with a significant asymptomatic increase in serum ferritin. Magnetic resonance imaging showed that the severity of iron overload in the spleen was significantly higher than that in the liver； liver biopsy showed mild fatty liver disease and iron deposition in Kupffer cells； gene variation analysis identified a heterozygous mutation in SLC40A1 c.485_487del （p.Val162del）. Screening of family members showed that the proband’s mother carried the same variation and had the manifestation of iron overload in the liver and spleen， which further confirmed the pathogenicity of this variation. This case highlights that type ⅣA HH often has an insidious onset and is frequently misdiagnosed. For patients with an unexplained persistent increase in serum ferritin， active genetic testing for HH should be considered， even in the presence of concurrent liver diseases， in order to realize early diagnosis and intervention.

Objective:Through the analysis of the detection results of hepatitis B virus (HBV) serological markers in the population admitted to Shengjing Hospital of China Medical University in recent five years, the prevalence and characteristics of HBV infection in our hospital were clarified.Methods:Cross-sectional study was conducted. A total of 1 017 030 patients who underwent HBV serological markers testing in Shengjing Hospital of China Medical University from January 1, 2019 to December 31, 2023 were enrolled as the research objects. The included cases were divided into 14 districts in Liaoning: Shenyang (345 346), Dalian (13 219), Anshan (38 536), Fushun (40 067), Benxi (28 883), Dandong (34 284), Jinzhou (35 827), Yingkou (40 573), Fuxin (30 675), Liaoyang (26 282), Panjin (21 008), Tieling (74 632), Chaoyang (43 858) and Huludao (20 949). The included cases were divided into 7 groups according to age: 0-10 years old (162 457), 11-20 years old (33 657), 21-30 years old (129 791), 31-40 years old (235 378), 41-50 years old (124 925), 51-60 years old (143 361), and≥61 years old (187 461). According to different time points of the implementation of vaccination policies, cases born from January 1, 1992 to December 31, 2023 were divided into three groups: the group from January 1, 1992 to December 31, 2001 (94 194), the group from January 1, 2002 to May 31, 2005 (70 428), and the group from June 1, 2005 to December 31, 2023 (87 057). The general data and HBV serological markers results were collected for statistical analysis. The comparison of intergroup rates was conducted using the Chi-square test, and the trend test was conducted using the Cochran Armitage test. Results:In recent five years, the total positivity of serum hepatitis B surface antigen (HBsAg), hepatitis B surface antibody (HBsAb), hepatitis B e antigen (HBeAg), hepatitis B e antibody (HBeAb) and hepatitis B core antibody (HBcAb) were 6.68% (67 938/1 017 030), 51.69% (485 627/939 498), 2.37% (21 961/926 626), 15.00% (138 853/925 759) and 27.86% (257 344/923 703), respectively. According to gender, the total positivity of HBV serological markers in men was significantly higher than that in women, and the difference was statistically significant (HBsAg: χ 2=5 599.286, P<0.001; HBsAb: χ 2=5.065, P=0.024; HBeAg: χ 2=2 451.420, P<0.001; HBeAb: χ 2=1 066.145, P<0.001; HBcAb: χ 2=4 013.618, P<0.001). According to the age group, the peak of HBsAg positivity was mainly distributed in the age group of 41-50 years old, with a positivity of 10.48% (2 864/27 324). The positivity of HBsAb decreased with age.The positivity of HBsAb decreased with age increase, highest in the 0-10 years old group, and a decrese in the 11-20 years old group ( Z=18 915.453, P<0.001). The positivity of HBcAb increased with age ( Z=27 493.853, P<0.001). According to the regional groups, the positivity of HBsAg and HBeAg in Shenyang City were 5.01% (3 996/76 974) and 1.45% (944/69 117) respectively. The positivity of HBsAb in patients from Liaoyang district was the highest [55.89% (3 362/6 150)]. The highest positivity of HBeAb and HBcAb were in patients from Dandong district, 19.90% (3 362/6 150) and 37.37% (3 119/8 680) respectively. According to the different time points of the implementation of the vaccination policies, the positivity of HBsAg in cases born from June 1, 2005 and December 31, 2023 decreased to 0.30% (259/87 057) compared with cases born before this time point (χ 2=5 777.47, P<0.001). Conclusions:The analysis of HBV serological laboratory characteristics showed that the positivity of contagious HBV serological markers was still high. The positivity of male was higher than that of female. HBsAb levels decreased significantly in the 11-20 years old group, suggesting the necessity to strengthen hepatitis B prevention in this age group. There were regional differences in the prevalence of hepatitis B, suggesting the necessity to optimize and improve HBV prevention and control strategies.

Objective:To explore the relationship between the personality traits and work-family conflict in Chinese adults and examine the roles of social support and self-efficacy in this relationship.Methods:A total of 2 079 working adults were selected and investigated with the Simplified Version of the Big Five Personality Scale(BFI-10),Work Family Conflict Scale(WFCS),Perceived Social Support Scale(PSSS),and General Self Efficacy Scale(GSES).The moderated mediating effect was tested by PROCESS.Results:The neuroticism scores were sig-nificantly positively correlated with the WFCS scores(r=0.11-0.19,P＜0.01),the scores of extraversion,agree-ableness and responsibility were significantly negatively correlated with the WFCS scores(r=-0.06--0.17,Ps＜0.01).The PSSS scores played a partial mediating role between neuroticism,agreeableness,responsibility scores and WFCS scores,the proportions of mediating effect were 17.03％,32.86％and 48.26％.The GSES scores mod-erated the relationship between WFCS scores and other personality traits(β=-0.07-0.04.Ps＜0.05),except for extroverted personality(β=-0.01,P＞0.05).Conclusion:Social support plays a mediating role between the per-sonality traits and work-family conflict,and the mediating effect is moderated by self-efficacy.

The aging trend is intensifying currently,but there is still a lack of standardized diagnosis and treat-ment schemes for severe infections in elderly people.This paper focuses on the recommendations for immune-related clinical diagnosis and treatment routes as well as the idea of risk stratified diagnosis and treatment for elderly peo-ple,aiming to effectively prevent infectious diseases in elderly people and perform stratified management through systematic and scientific means of immune function monitoring and regulation,so as to enhance the standardized level of diagnosis and treatment as well as clinical treatment effect of infection in elderly people.

Objective To explore the changes in biventricular myocardial strain and the value of strain in evaluating left ventricular function in arrhythmogenic right ventricular cardiomyopathy(ARVC)patients using cardiovascular magnetic resonance feature tracking(CMR-FT)technique.Methods The retrospective study included 25 patients with ARVC and 25 healthy volunteers(control group),who underwent cardiac magnetic resonance(CMR)examination.One-way ANOVA was used to analyze and compare biventricular function parameters,global and local myocardial strain parameters between left ventricular ejection fraction(LVEF)≥50％ARVC,LVEF＜50％ARVC and control groups.Diagnostic efficacy of myocardial strain indexes was evaluated by receiver operating characteristic(ROC)curve.Results In the LVEF＜50％ARVC group,the global longitudinal strain(GLS),global radial strain(GRS)and global circumferential strain(GCS)in left ventricular were lower than the control group(P＜0.05).While only left ventricular GLS,basal longitudinal strain(BLS),and middle longitudinal strain(MLS)were lower in the LVEF 50％ARVC group than in the control group(P＜0.05).ROC curve analysis demonstrated that left ventricular strain was an effective mean of discriminating ARVC patients from control group and performed well in equally discriminating the diagnosis of the LVEF≥50％ARVC group from control group.The area under the curve(AUC)for right ventricular GLS,GRS,and GCS were 0.904,0.893,and 0.874,respectively.Conclusion CMR-FT technique is capable of detecting biventricular myocardial strain characteristics and identifying early left ventricular involvement in ARVC patients.

Objective To explore the correlations between interleukin-6(IL-6),interleukin-8(IL-8),antimicrobial peptide LL-37 and the microbial abundance and the degree of mucosal injury in patients with trichomonal vaginitis(TV).Methods A total of 120 TV patients admitted from January 2022 to December 2024 were selected and divided into the occurrence group(n=63)and the non-occurrence group(n=57)according to presence and absence of mucosal injury.The general data,IL-6,IL-8,LL-37 and microbial abundance were compared between the two groups.According to the degree of mucosal injury,the occurrence group was divided into the mild subgroup(n=34),the moderate subgroup(n=20),and the severe subgroup(n=9).Pearson correlation analysis was applied to investigate the correlations between IL-6,IL-10,antimicrobial peptide LL-37,microbial abundance and the degree of mucosal injury.Multivariate logistic regression was used to analyze the influencing factors of mucosal injury in TV patients.The receiver operating characteristic curve(ROC)was used to evaluate the predictive value of relevant indicators for mucosal injury in TV patients.Result The levels of IL-6,IL-8,antimicrobial peptide LL-37,and the abundance of Actinobacteria and Gardnerella in the occurrence group were higher than those in the non-occurrence group,while the abundance of Firmicutes and Lactobacillus was lower than that in the non-occurrence group(P<0.05,P<0.01).Pearson correlation analysis showed that IL-6,IL-8,antimicrobial peptide LL-37,and abundance of Actinobacteria and Gardnerella were positively correlated with the degree of mucosal injury(r=0.543,0.713,0.352,0.409,0.659,P<0.01),while the abundance of Firmicutes and Lactobacillus was negatively correlated with the degree of mucosal injury(r=-0.540,-0.504,P<0.01).Multivariate logistic regression analysis showed that IL-6,IL-8,antimicrobial peptide LL-37,and abundance of Actinobacteria were risk factors for mucosal injury in TV patients,while the abundance of Firmicutes and the abundance of Lactobacillus were protective factors(P<0.05).The ROC curve showed that the area under the ROC curve(AUC)of the combined detection of IL-6,IL-8,antibacterial peptide 37,and the abundance of Actinobacteria,Firmicutes,and Lactobacillus in evaluating mucosal injury in TV patients was higher than that of the single detection(P<0.01).Conclusion IL-6,IL-8,antimicrobial peptide LL-37 and microbial abundance are closely related to the degree of mucosal injury in TV patients.The combined detection has a high value in evaluating the occurrence of mucosal injury in TV patients.