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:To analyze the latent prevalence of hepatitis B and type 2 diabetes and their correlation through an observational study.Methods:This study used a case-control design. The cases with diabetes were recruited through the diabetes management system and village doctors, while the controls without diabetes were screened from volunteers recruited by village health clinics. Capillary blood samples were collected from the study participants for the measurement of real-time blood glucose level, and venous blood samples were taken from them for the detections of HBV serological markers. Firth logistic regression model was used to fit the relationship between HBsAg positive status and diabetes status.Results:The study included 1 218 diabetes patients, 62 patients with impaired fasting glucose and 491 cases without diabetes. In the cases without diagnosis of diabetes, 11.15% had impaired fasting blood glucose and 4.43% had diabetes. Among those who reported no or unknown diagnosis of hepatitis B, 1.73% were positive for HBsAg, while 18.80% were positive for both HBV core antibody and surface antibody, indicating latent infection of hepatitis B virus. In the non-diabetes group, 0.81% reported hepatitis B history, and in the diabetes group, 2.76% reported hepatitis B history. After adjustment, the HBsAg positive rate was higher in the diabetes group ( OR=2.90, 95% CI: 1.21-6.91). Conclusions:Both diabetes and hepatitis B exhibited a high degree of latent prevalence. The HBsAg positive rate was significantly higher in those with diabetes than in those without diabetes, indicating a potential correlation. These findings highlighted the importance of strengthened screening and management of comorbidities.

Objective To construct a discharge preparation plan for patients with head and neck cancer undergo-ing tracheotomy and explore its application effect to provide a reference for improving the at-home self-care ability of tracheostomy patients with head and neck cancer.Methods The discharge preparation plan for patients with head and neck cancer undergoing tracheotomy was constructed through literature analysis and expert consultation.A total of 160 patients with tracheotomy for head and neck cancer who were hospitalized in the Department of Oto-laryngology and Head and Neck Surgery of a tertiary A general hospital in Jinan City,Shandong Province from May 2023 to February 2025 were selected by convenience sampling method as the study subjects,and were divided into an experimental group and a control group by block randomization method,with 80 cases in each group.The ex-perimental group received a discharge preparation plan for patients undergoing tracheotomy for head and neck can-cer,while the control group received routine nursing and health education.Data from admission to 1 month after discharge were collected.The levels of mindfulness awareness,self-care ability,and discharge readiness were compared between 2 groups of patients before and after intervention.Results The constructed discharge preparation plan in-cludes 5 stages(pre-contemplation,contemplation,preparation,action,and maintenance).There were no sample dropouts in either group of patients.The experimental group had higher levels of mindfulness awareness,self-care ability and discharge readiness scores than the control group,and the differences were statistically significant(P＜0.001).Conclusion The discharge preparation plan for patients with head and neck cancer undergoing tra-cheotomy is scientifically reasonable,safe,and feasible,which can effectively improve patients' discharge preparation and mindfulness level,and enhance their self-care ability.

Extraintestinal manifestations (EIM) of inflammatory bowel disease (IBD) may affect multiple organ systems, with approximately 50% of IBD patients presenting with at least one EIM during the course of their disease, with cutaneous involvement being particularly common. Cutaneous manifestations can present in various forms. This paper reports a case of ulcerative colitis (UC) complicated with bullous pemphigoid (BP), aiming to enhance clinicians' awareness of skin lesions associated with UC.

Objective:To study the genotype and molecular characteristics of Hantavirus causing hemorrhagic fever with renal syndrome (HFRS) in Shenzhen so as to provide basis for the prevention and control.Methods:The serum samples of HFRS patients at acute stage were collected from hospitals, and viral RNA from the sera was extracted as a template for typing detection by real-time fluorescent PCR. The nucleotide sequences of M fragment (G2 segment) and S fragment were amplified by reverse transcription-nested polymerase chain reaction (RT-nested PCR). The PCR products were then sequenced and homology and phylogenetic tree analysis were conducted.Results:In a total of 123 HV IgM antibody positive serum samples were collected in Shenzhen from 2015 to 2023, including 97 males and 26 females. Most of patients were young and middle-aged men. Cases were found throughout the year, with high incidence in spring and early summer. The result of fluorescence PCR showed that among 92 clinical specimens, 63 cases (68.5%) were tested positive for hantavirus genotypes, 59 cases (93.7% of positives) were identified as SEOV and 4 cases (6.3% of positives) as HTNV. Notably, all HTNV-positive patients were male. Analysis on nucleotide homology and phylogenetic tree showed that the difference in nucleotide sequences among SEO viruses in Shenzhen was small, and most of them were S2 subtype except for two cases of S3 subtype. The mutation rate of HTN viruses was high, with two cases of H5 subtype and two cases of H8 subtype.Conclusions:The major genotype of hantavirus causing HFRS in Shenzhen is SEO genotype, especially S2 subtype, which is closely related to some strains in Guangzhou, and has high homology with L99, Z37 and other vaccine strains. The existence of S3 subtype cases was detected for the first time in Shenzhen, while some cases of HTNV were still imported.

Objective To study the mechanism by which acoustic wave stimulation improves cognitive function in sleep-deprived mice.Methods(1)Thirty-six male C57BL/6 mice were randomly divided into three groups:the control group,model group and acoustic wave group(n=12 per group).A sleep deprivation model was established using the modified multiple platform method.After 21 days of sleep deprivation in a row,mice in the acoustic wave group were exposed to 30-minute acoustic wave stimulation at 40 dB.(2)During sleep deprivation,the health status of each group of mice was recorded,including the mental state and body weight.(3)After 21 days of sleep deprivation,behavioral tests(open field test,novel object recognition test,Y-maze and Morris water maze)were performed to assess the spontaneous activity,spatial exploration,and such cognitive functions as learning and memory in mice.Immunohistochemistry was conducted to analyze the expressions of neuronal nuclear antigen(NeuN),glial fibrillary acidic protein(GFAP)and ionized calcium-binding adaptor molecule 1(Iba-1)in the hippocampus.Quantitative real-time PCR(qPCR)was used to measure the expression levels of interleukin-6(IL-6),tumor necrosis factor-alpha(TNF-α)and inducible nitric oxide synthase(iNOS)in the hippocampus.(4)Transcriptome sequencing was employed to explore the mechanism underlying the improvement of cognitive impairment by acoustic wave stimulation.Results After 21 days of sleep deprivation,acoustic wave stimulation significantly alleviated weight loss in mice(P＜0.01).The accuracy of Y-maze spontaneous alternation,indexes of novel object discrimination,the time spent in the target quadrant and the number of times the mice crossed the platformin the Morris water maze were all significantly increased(P＜0.05),while the escape latency was significantly reduced(P＜0.05).The average optical density of NeuN in the hippocampal CA3 region significantly increased(P＜0.05),GFAP and Iba-1 immunopositive cell counts significantly decreased(P＜0.01),and the mRNA levels of IL-6,TNF-α,and iNOS in the hippocampal tissue were significantly reduced(P＜0.05).Conclusion Acoustic wave stimulation can repair neural damage,modulate hippocampal inflammatory responses,and improve cognitive deficits induced by sleep deprivation.