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 long-term efficacy and influencing factors of transcatheter adrenal ablation in patients with primary aldosteronism (PA).Methods:This cohort study retrospectively enrolled PA patients who underwent transcatheter adrenal ablation at Daping Hospital, Army Medical University between January 2021 and December 2024. According to PASO criteria, patients were categorized into groups based on clinical outcomes (complete, partial, or no remission), biochemical outcomes (complete, partial, or no remission), and composite outcomes (complete or incomplete remission). All participants underwent 1-year follow-up, with intergroup comparisons of clinical characteristics and surgical approaches. Multivariate logistic regression models were used to identify factors influencing long-term efficacy post-transcatheter adrenal ablation in PA patients.Results:A total of 122 PA patients were enrolled, aged (47.7±11.1) years, including 55 males (45.1%). Baseline aldosterone-to-renin ratio was 0.43(0.19,0.86)(pmol·L -1)/(μU·L -1). Bilateral adrenal lesions were present in 33 cases (27.1%), while 70 (57.4%) had nodules or adenomas. Adrenal venous sampling confirmed lateralized hypersecretion in 107 patients (87.7%, left or right dominance). According to PASO criteria, 93.4% (114/122) and 95.1% (116/122) of patients achieved complete or partial remission in biochemical and clinical parameters at 1-year post-ablation, respectively. For biochemical outcomes: 40 complete, 74 partial, and 8 no remission. Patients in the partial-remission group were older than those in the no-remission group ((49.4±11.2) vs. (39.6±9.8) years), while complete-remission group had higher bilateral non-lateralized secretion rates than partial remission group (27.5% vs. 4.1%, both P<0.05). For clinical outcomes: 26 complete, 90 partial, 6 no remission. Compared to complete-remission group, partial-remission group had higher male proportion (51.1% vs. 26.9%), longer hypertension duration (4.0 (0.7, 10.0) years vs. 1.5 (0.1, 5.0) years), but lower office diastolic blood pressure ((88±11) mmHg vs. (94±12 mmHg), 1 mmHg=0.133 kPa, all P<0.05). For composite outcomes: 56 complete and 66 incomplete remission. Compared with incomplete remission group, complete remission group had lower prevalence of diabetes (8.9% vs. 22.7%) and higher proportion of bilateral non-lateralized secretion (21.4% vs. 4.6%, both P<0.05). Multivariate logistic regression identified diabetes ( OR=3.635, 95% CI 1.029-12.834, P=0.045) and lateralized secretion ( OR=9.056, 95% CI 2.039-40.212, P=0.004) as independent risk factors for poor composite outcomes after transcatheter adrenal ablation in PA patients, whereas higher office diastolic blood pressure acts as a protective factor ( OR=0.957, 95% CI 0.925-0.992, P=0.015). Conclusion:One year after transcatheter adrenal ablation, the majority of patients achieved complete or partial remission in biochemical and clinical parameters.Patients with non-lateralized adrenal hypersecretion demonstrated a higher likelihood of sustained biochemical remission and superior composite outcomes compared to those with lateralized hypersecretion.

Objective To observe the clinical effect of hysteroscopic combined with laparoscopic repair and reconstruction of diverticulum in the treatment of post-cesarean section uterine diverticulum(PCSD).Methods A total of 150 patients with PCSD admitted to the department of gynaecology of our hospital from January 2020 to February 2022 were selected and divided into the transvaginal group(transvaginal repair of diverticulum)and the combined group(hysteroscopic combined with laparoscopic repair and reconstruction of diverticulum)according to different surgical plans,with 75 cases in each group.The general condition of surgery,days of menstrual period,thickness of muscular layer,inflammation-related factor levels,complications and pregnancy in patients with birth plan were recorded in both groups.Results The operation time of patients in the combined group was longer than that in the transvaginal group,and the time of anal exhaustion and postoperative hospital stay of patients in the combined group were shorter than those in the transvaginal group,the differences were statistically significant(P<0.05);There was no significant difference in terms of the intraoperative bleeding volume of patients between the two groups(P>0.05).The high-sensitivity C-reactive protein(hs-CRP),interleukin-4(IL-4),interleukin-8(IL-8),and tumor necrosis factor-α(TNF-α)7 days after surgery of patients were lower in both groups compared with those before surgery,and the combined group was lower than the transvaginal group,the differences were statistically significant(P<0.05).Compared with that before the surgery,the days of menstrual period of patietns in both groups 6 and 12 months after the surgery decreased,and the thickness of muscular layer increased,with statistically significant differences(P<0.05);while no statistically significant difference was found in terms of the days of menstrual period or thickness of muscular layer of patients 6 and 12 months after surgery between the two groups(P>0.05).There was no significant difference in the incidence of cumulative complications such as incision infection,hyponatraemia,bladder injury and vaginal infection between the two groups(P>0.05).The intrauterine pregnancy rate of patients with birth plan and the full-term pregnancy rate in the combined group were higher than those in the transvaginal group,the differences were statistically significant(P<0.05).There was no statistically significant difference in the abortion rate or preterm birth rate between the two groups(P>0.05).Conclusion The hysteroscopic combined with laparoscopic repair and reconstruction of diverticulum for patients with PCSD has a fast postoperative recovery,a short hospital stay,and can increase the pregnancy rate of patients with birth plan.

Objective To evaluate the efficacy and safety of enteric-coated metformin hydrochloride capsules(Junlida?)in patients with T2DM and poor glycemic control under lifestyle interventions.Methods In this study,419 patients with T2DM were recruited from 15 research centers from July 2020 to March 2022,and randomly divided into observation(Obs)group(n=209)and control group(Con,n=210)using a multicenter,randomized,double-blind,non-inferiority trial design.Patients in the Obs group were treated with enteric-coated Metformin hydrochloride capsules(Junlida?),and patients in the Con group were treated with Metformin hydrochloride tablets(Glucophage?).The optimal effective dose of 2 g/d was achieved within 4 weeks,and the reasonable dose was maintained until the end of treatment.The treatment period was 24 weeks.HbA1c and its compliance rate,FPG,and body weight were compared between the two groups in full analysis set(FAS)and protocol set(PPS).Safety and adverse events(AE)were evaluated in safety set(SS).Results A total of 414 participants were randomized(207 cases in Obs group and 207 cases in Con group).414 cases in FAS population(207 cases in Obs group and 207 cases in Con group),and 328 cases in PPS population(164 cases in Obs group and 164 cases in Con group),and 414 cases in SS population(207 cases in Obs group and 207 cases in Con group).After treatment,HbA1c,FPG and body weight were lower in both groups(P<0.05)in FAS and PPS.HbA1c compliance rate was not significantly different between the two groups in FAS and PPS(P>0.05).The results of non-inferiority test showed that the lower limit was>-0.4%in both FAS(-0.154,95%CI-0.384～0.069)and PPS(-0.139,95%CI-0.390～0.112),and the Obs group reached non-inferiority end point.The achievement rate,compliance rate,safety index and incidence of AE were not significantly different between the two groups(P>0.05).Conclusions Junlida? demonstrated non-inferiority to Glucophage? in glycemic control and can be safely and effectively used in patients with diabetes.

Objective:To investigate the effects of different BMI classifications on rehabilitation outcomes and complications after total knee arthroplasty(TKA).Methods:Clinical data of 88 patients who underwent TKA in our hospital from January 2022 to June 2024 were retrospectively analyzed.According to the World Health Organization(WHO)BMI standards,patients were divided into normal weight group(18.5 ≤BMI＜24.9 kg/m2),overweight group(25.0≤BMI＜29.9 kg/m2),mild obesity group(30.0≤BMI＜34.9 kg/m2),and severe obesity group(BMI≥35.0 kg/m2).Baseline data,operation time,intraoperative blood loss,hospital stay,postoperative knee function scores,pain scores,range of motion(ROM),and incidence of complications were compared among groups.Results:With the increase of BMI,operation time was prolonged,intraoperative blood loss increased,and hospital stay extended,with statistically significant differences(P＜0.05).At 3-month and 6-month follow-ups,Knee Society Score(KSS)and Western Ontario and McMaster Universities Osteoarthritis Index(WOMAC)showed that functional recovery decreased with increasing BMI(P＜0.05).Regarding postoperative complications,the incidence of poor incision healing,infection,and deep vein thrombosis(DVT)in the obese groups was significantly higher than in the normal weight and overweight groups(P＜0.05).Conclusion:BMI is an important factor affecting rehabilitation outcomes and complications after TKA.Patients with high BMI have slower functional recovery and higher complication rates.For patients with high BMI,preoperative weight loss and individualized rehabilitation programs should be considered to improve TKA prognosis.

This study was aimed at analyzing the biotypes and genetic diversity characteristics of five non-major Brucella species,to provide a scientific basis for understanding the species diversity of Brucella and strengthening pathogen monitoring and control.According to the biotypes(species,hosts,isolation locations,and time)and MLVA-16 genotypes(MLVA-16 lo-cus data,MLVA-11 genotypes)of five non-major pathogenic Brucella in the international MLVA database,we used Bionu-merics 8.0 software and PHYLOVIZ2.0 online software to analyze the geographical origin and genetic diversity characteristics of strains.A total of 227 strains were studied,including 121 Brucella ceti,47 B.pinnipedialis,37 Brucella ovis,11 B.mi-croti,and Brucella neotomae.The greatest host diversity was observed for B.ceti,followed by B.pinnipedialis and B.mi-croti.B.ceti was distributed in European and South American countries;B.pinnipedialiswas distributed in Europe;and B.microti.was distributed in the Czech Republic,Austria,and Hungary in Central Europe.B.ovis was widely distributed in Af-rica,Argentina,Australia,Brazil,Greece,the United States,Spain,and France.The MLVA-11 genotypes of different types of Brucella showed high polymorphism and large differences,thus suggesting that the strains have different geographical ori-gins.MST analysis indicated that the studied strains were divided into four branches(BCⅠ-Ⅳ),among which B.ceti was di-vided into two different branches(BC-Ⅰ and BC-Ⅱ),the strains of other types formed different branches(or sub-branches),and the strains of different types showed clear regional and dominant host characteristics.Genetic correlation analysis of strains of the Brucella genus revealed that non-major pathogenic Brucella had clear genetic,distribution,and host spectrum differ-ences with respect to four classical pathogenic Brucella species.Five non-major pathogenic Brucella strains presented unique genetic evolutionary patterns,geographical distributions,and host tropism characteristics,thereby providing new insight for understanding the biological and genetic diversity of those Brucella strains.

In recent years,significant breakthroughs have been achieved in the immunotherapy for Alzheimer's disease.In line with global advancements,two anti-amyloid-β monoclonal antibodies have been approved and successfully launched in China for clinical use.Lecanemab and Donanemab were officially used in June 2024 and April 2025 in China,respectively.In order to standardize the rational and safe application of anti-amyloid-β monoclonal antibodies for Alzheimer's disease in China,this article integrates recom-mendations from the clinical trials and real-world experience from the author's team and domestic peers to further update the recom-mendations for the clinical use of anti-amyloid-β monoclonal antibody based on the 2024 version.It includes indications for therapy,pre-treatment evaluation and preparation,administration protocols and safety measures during treatment,and post-treatment monitor-ing strategies.

AIM To investigate effects of petroleum ether fraction from Derris eriocarpa How on glucose and lipid metabolism in a mouse model of metabolic syndrome(MS).METHODS KM mice were fed a high-fat diet and administered streptozotocin intraperitoneally to establish MS models.The MS mice were then randomly assigned to the model group,the metformin hydrochloride group,the lovastatin group,the ursolic acid group,and the high-,medium-and low-dose D.eriocarpa petroleum ether fraction groups,with 10 mice in each group.Ten additional mice maitained on a normal diet served as the normal control group.After 4 weeks of intragastric administration,glucose and lipid metabolism indicators were measured.Hepatic pathological changes were assessed using HE staining and oil red O staining.Liver tissue mRNA expressions of ATF3,PEPCK,FXR,CYP7A1,HNF4ɑ,CYP8B1 and SRB1 were quantified by RT-qPCR.Hepatic protein expressions of ATF3,HNF4ɑ,PEPCK,FXR and CYP7A1 was analyzed by Western blot in MS mice.RESULTS Compared to the model group,the high-dose D.eriocarpa petroleum ether fraction group exhibited significant glucose tolerance improvement(reduced OGTT-AUC,P＜0.01);favorable serum lipid modulation in terms of increased HDL-C levels(P＜0.01)and decreased TG,TC,LDL-C(P＜0.01);reduced renal biomarkers(BUN,SCR)and hepatotoxic indicators of TBA,AST and ALT activities(P＜0.01);alleviated hepatic lipid accumulation and histopathological damage;downregulated mRNA and protein expressions of ATF3,HNF4ɑ and PEPCK,as well as CYP8B1 mRNA expression(P＜0.01);and upregulated mRNA and protein expressions of FXR and CYP7A1,along with SRB1 mRNA expression(P＜0.01).CONCLUSION D.eriocarpa petroleum ether fraction ameliorates glucose and lipid metabolism dysregulation in MS mice by modulating the ATF3/HNF4ɑ/CYP7A1 signaling pathway,consequently eliciting hypoglycemic,hypolipidemic,hepatoprotective and nephroprotective effects.

Objective:To compare the cardiac size，morphology，and function between anemic and normal fetuses using a hybrid artificial intelligence（AI）model，and to evaluate the utility of AI in quantitatively assessing fetal cardiac function in cases of anemia.Methods:A retrospective study was conducted by collecting data from 2018 to 2024 at the Seventh Affiliated Hospital of Sun Yat-sen University，including 15 cases of anemic fetuses（anemia group）diagnosed through umbilical venous puncture and 32 cases of normal fetuses（control group）. Four-chamber fetal cardiac ultrasound videos and left/right ventricular segments were included，with 44 videos and 1 056 segments in the anemia group，and 46 videos and 1 104 segments in the control group. Based on dynamic four-chamber heart images，the hybrid AI model was employed to extract heart measurement parameters，including basal-apical length（BAL），transverse width（TW），global sphericity index（GSI），end-diastolic area（EDA），24-segment left and right ventricular end-diastolic diameter（LVEDD，RVEDD），segmental sphericity index（LVSI，RVSI），global longitudinal strain（LVGLS，RVGLS），fractional area change（LVFAC，RVFAC），segmental fractional shortening（LVFS，RVFS），along with their corresponding Z-scores. The differences in cardiac size，morphology，and function parameters between the two groups were compared. Pearson correlation analysis was performed for the parameters of the control group（BAL，TW，EDA，GLS，LVGLS，RVGLS，LVFAC，and RVFAC）against gestational age. The measurement consistencies of AI technology and fetal HQ technology in normal and anemia groups were evaluated.Results:No significant differences were found in BAL，TW，EDA，or GSI between groups（all P>0.05）. RVEDD in segments 3-24 was significantly larger in the anemia group（all P<0.05），with significantly higher Z-score abnormality rates for LVEDD and RVEDD across 24 segments（both P<0.001）. LVSI in segments 7-10，12，14-15 and RVSI in segments 1-23 were lower in the anemia group（all P<0.05），with significantly higher Z-score abnormality rates for LVSI and RVSI across 24 segments（both P<0.001）. The absolute values of LVGLS and LVFAC were significantly reduced in the anemia group（both P<0.05），while the absolute values of RVGLS and RVFAC showed no significant differences（both P>0.05）. Segmental LVFS values were significantly lower in the anemia group for segments 2，5-8，11-13（all P<0.05）. In the control group，BAL，TW，and EDA positively correlated with gestational age（ r=0.913，0.947，0.907；all P<0.001），while GSI，LVGLS，RVGLS，LVFAC and RVFAC showed no or weak correlations（ r=-0.221，0.353，0.515，-0.409，-0.425）. The intraclass correlation coefficient（ICC）between AI-based and conventional fetal HQ evaluations were 0.788 for the control group and 0.837 for the anemia group，indicating good consistency. Conclusions:AI offers a reliable approach for quantitatively evaluating fetal cardiac size，shape，and systolic function. Fetal anemia primarily affects right ventricular morphology and left ventricular systolic performance，characterized by spherical remodeling of the right ventricle and reductions in LVGLS，LVFAC，and segmental LVFS. The hybrid AI model holds potential value in fetal cardiac function assessment.

Objective:To establish and explore a novel model and its clinical application value based on abnormal des-gamma-carboxy prothrombin (DCP) for the early-stage diagnosis of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC).Methods:A total of 420 cases with chronic HBV infection with nodular liver lesions examined by imaging at the Third Hospital of Hebei Medical University from January 2021 to June 2024 were retrospectively selected. They were divided into the HBV-HCC group (182 cases) and the control group (238 cases) according to the current HCC diagnostic criteria. The basic information of patients, liver-related biochemical indicators, serum DCP, alpha-fetoprotein (AFP) levels, and the efficacy of combined detection in diagnosing early-stage HCC were collected and analyzed. A DSGAA model based on DCP (D) combined with gender (S), γ-glutamyl transferase (GGT, G), AFP (A) and age (A) as independent variables was constructed. The diagnostic performance of the novel model was compared with that of the traditional model through nomogram visualization output and calibration curve.Results:The age, sex, hemoglobin, albumin, alanine aminotransferase, alkaline phosphatase, and GGT levels were significantly higher in patients with HCC than those of the control group ( P<0.05). The positivity detection rate in patients with HBV-HCC was significantly higher in DCP than that of AFP (85.71% vs. 59.89%, P<0.05). The abnormal detection rate of DCP in patients with AFP-negative was 76.7%. The sensitivity for diagnosing HCC was significantly higher in DCP than AFP (73.63% vs. 64.29%, P<0.05), with specificity of 83.6% in all. The specificity for diagnosing early-stage HCC was 89.09%, surpassing that of AFP at 68.06% ( P<0.05). The area under the receiver operating characteristic curve (AUC) for the constructed DSGAA diagnostic model was 0.8841, with an optimal cutoff value of 0.377, a sensitivity of 80.22%, and a specificity of 86.13%. The AUC for diagnosing early-stage HCC was 0.8122, with a sensitivity of 66.18%, and a specificity of 86.13%, and the diagnostic efficacy was higher than other models ( P<0.05). Conclusion:DCP has superior diagnostic efficacy for HBV-related HCC, and the DSGAA model is expected to be used as a new method for screening and diagnosing early-stage HBV-related HCC.