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 Under the operation background of Diagnosis-Intervention Packet(DIP),whether there is interaction between reducing medical cost and average length of stay combined with pre-hospitalization mode,and whether there is difference between different departments and diseases in interaction.Methods Based on real-world data from 71 453 patients admitted to Guizhou Provincial People's Hospital from July to December 2021,a two-way analysis of variance was employed.When the interaction effect was statistically significant,parameter estimation was used to determine the magnitude and direction of the interaction effect,followed by subgroup analyses by department and disease.Results Without adjustment,both total medical costs and average length of stay exhibited a negative interaction effect(P＜0.05).Subgroup analyses revealed that in terms of total medical costs,the effect size for the surgical system was 0.18％,lower than that for the internal medicine system(0.70％);for core diseases,it was 6.62％,lower than that for comprehensive diseases(7.71％).Regarding average length of stay,the effect size for the surgical system was 0.55％,better than that for the internal medicine system(0.22％);for core diseases,it was 8.70％,higher than that for comprehensive diseases(2.90％).Conclusion The combination of DIP payment reform and pre-admission management model demonstrates a synergistic effect,effectively reducing patients' medical costs and length of stay.This effect is influenced by disease complexity and the standardization of diagnostic and treatment processes.

Objective To determine the body weights and blood physiological and biochemical indicators in the Macaca mulatta brevicaudus(M.m.brevicaudus),to provide a reference for the breeding of experimental animals.Methods A total of 180 wild M.m.brevicaudus(female and male)from the South Bay Macaque Reserve in Lingshui were selected as the research subjects.Body weights were measured using electronic scales and blood samples were collected.Routine blood indicators(red blood cell count,hemoglobin,white blood cell count,and platelet count)were detected using an automated blood cell analyzer,and biochemical indicators(alanine aminotransferase,aspartate aminotransferase,glucose,blood urea nitrogen)were measured using an automated biochemical analyzer.Data were analyzed using SPSS 18.0 software for descriptive statistics,and differences in body weights and blood indicators between sexes and age groups were compared using t-tests.Results Adult male wild M.m.brevicaudus were significantly heavier than females(P＜0.05);however,there were no significant differences in complete blood cell counts between female and male macaques(P＞0.05).In terms of blood biochemical indicators,lactate dehydrogenase and total bilirubin levels differed significantly between female and male M.m.brevicaudus(P＜0.05),but there were no significant differences in any other biochemical indicators.Conclusions This study established baseline data on the body weights and blood physiological and biochemical indicators of wild M.m.brevicaudus,providing a reference for their future breeding as experimental animals.

This study aims to comprehensively evaluate the analytical performance and clinical application value of an acridinium ester-based chemiluminescence assay for detecting heparin-binding protein (HBP), providing more accurate laboratory evidence for the early diagnosis of infections and sepsis. The analytical performance of the HBP detection kit based on acridinium ester chemiluminescence was verified in Hangzhou Hospital of Traditional Chinese Medicine in January 2024 to June 2024, including limit of blank (LoB), accuracy, precision, linear range, anti-interference ability, and clinical diagnostic concordance. The potential of this assay in early diagnosis and treatment monitoring of sepsis was assessed. HBP levels were measured in 97 patients with sepsis and 160 healthy controls, and intergroup differences were analyzed using the Mann-Whitney U test. The results showed that the LoB of the HBP detection kit based on acridinium ester chemiluminescence was 0.10 RLU, and low-concentration sample testing showed good discrimination. In the accuracy evaluation, the regression equation between the test reagent and the comparator was y=1.015 2 x-2.850 8 (R2=0.995 1). For precision, the CV in intra-assay was ≤3.51%, and the CV in inter-assay was ≤4.18%. Within the linear range of 0.42-493.46 ng/ml, the regression equation was y=0.996 9 x+3.066 0 (R2=0.999 1). In interference experiments, the relative deviation was <3%. Clinically, the median HBP concentration in the sepsis group (median: 121.1 ng/ml) was significantly higher than in the control group (median: 6.3 ng/ml, P<0.000 1), with a diagnostic sensitivity of 98.97% and specificity of 96.25%. Age stratification had no effect on HBP levels ( U=448 ,P=0.780 0). In conclusion,the acridinium ester-based chemiluminescence assay requires only about 10 minutes to complete the detection and deliver results, demonstrating acceptable sensitivity, precision, and anti-interference capability. Its wide linear range and rapid detection meet emergency testing needs. Clinical validation confirms HBP′s extremely high sensitivity and specificity for sepsis diagnosis, supporting its role as a key marker for early diagnosis, treatment monitoring, and prognosis assessment.

Objective:To analyze the clinical efficacy of the Schroth therapy in the treatment of adolescent idiopathic scoliosis.Methods:Relevant clinical studies on Schroth therapy for adolescent idiopathic scoliosis were retrieved from CNKI, Wanfang Data, SinoMed, Chinese Medical Journal Full-text Database, PubMed, Embase, Cochrane Library, and Web of Science. The search time was from the establishment of the database to November 2024. Two authors independently conducted the literature search and imported all potentially eligible studies into EndNote X9 to determine whether the studies met the inclusion criteria. If there was any disagreement, the two parties would discuss and solve it or add a third author for judgment. The scoliosis Cobb angle and the Scoliosis Research Society question-naires-22 (SRS-22) or SRS-23 were extracted from the scoliosis after treatment. The Schroth therapy was compared with other conservative treatment methods (functional exercise or no intervention). The modified Jadad scale was used to evaluate the quality of the included randomized controlled trials. When the heterogeneity between groups was small, the fixed-effect model was used for analysis, and when the heterogeneity between groups was large, the random-effect model was used for analysis. Sensitivity analysis was used to evaluate the stability of the meta-analysis results.Results:A total of 189 patients from 8 literatures were included in the meta-analysis, including 2 Chinese literatures and 6 English literatures, all of which were randomized controlled trials, with a modified Jadad score of 4-6 points. The results of meta-analysis showed that the Cobb angle of Schroth therapy in the treatment of adolescent idiopathic scoliosis was smaller than that of functional exercise or no intervention [ WMD=-3.63, 95% CI (-4.76, -2.51), P<0.001]. SRS-22 or SRS-23 was superior to functional exercise or no intervention [ WMD=0.23, 95% CI(0.14, 0.32), P<0.001], and the difference was statistically significant. The results of subgroup analysis showed that the Cobb angle of Schroth treatment was smaller than that of other conservative treatment methods such as functional exercise [ WMD=-3.48, 95% CI(-4.76, -2.20), P<0.001]. Conclusion:Compared with other conservative treatment methods and no intervention, Schroth therapy can effectively improve the Cobb angle and quality of life in the treatment of adolescent idiopathic scoliosis.

Objective:To build an experimental curriculum system of Oral Preventive Medicine with the goal of improving the job competence of oral medical students.Methods:By establishing knowledge modules, adjusting the experimental content, integrating teaching methods, and improving the comprehensive assessment system of teaching, the teaching reform is carried out in the experimental teaching of Oral Preventive Medicine for undergraduates from 2016 to 2017 in the Department of Stomatology at Zhuhai Campus of Zunyi Medical University.Results:The experimental curriculum system and teaching evaluation system of Oral Preventive Medicine with the goal of improving the job competence of medical students have been established. Cultivate students' independent learning ability and innovative and practical spirit, guide undergraduates to participate in social services, enhance the sense of social responsibility, and integrate theoretical education, ability training and quality education.Conclusions:Explore the new model of experimental oral medicine teaching, initially build the experimental curriculum system of Oral Preventive Medicine with the goal of job competence, promote the transformation of undergraduate teaching concept, deepen the connotation of teaching, and improve the depth and breadth of the teaching of Oral Preventive Medicine.

Objective To determine the body weights and blood physiological and biochemical indicators in the Macaca mulatta brevicaudus(M.m.brevicaudus),to provide a reference for the breeding of experimental animals.Methods A total of 180 wild M.m.brevicaudus(female and male)from the South Bay Macaque Reserve in Lingshui were selected as the research subjects.Body weights were measured using electronic scales and blood samples were collected.Routine blood indicators(red blood cell count,hemoglobin,white blood cell count,and platelet count)were detected using an automated blood cell analyzer,and biochemical indicators(alanine aminotransferase,aspartate aminotransferase,glucose,blood urea nitrogen)were measured using an automated biochemical analyzer.Data were analyzed using SPSS 18.0 software for descriptive statistics,and differences in body weights and blood indicators between sexes and age groups were compared using t-tests.Results Adult male wild M.m.brevicaudus were significantly heavier than females(P＜0.05);however,there were no significant differences in complete blood cell counts between female and male macaques(P＞0.05).In terms of blood biochemical indicators,lactate dehydrogenase and total bilirubin levels differed significantly between female and male M.m.brevicaudus(P＜0.05),but there were no significant differences in any other biochemical indicators.Conclusions This study established baseline data on the body weights and blood physiological and biochemical indicators of wild M.m.brevicaudus,providing a reference for their future breeding as experimental animals.

Objective:To explore the safety and efficacy of shunt reduction using the Interlock-35 fibered interlocking detachable coil (IDC) occlusion system in the treatment of refractory hepatic encephalopathy (HE) after transjugular intrahepatic portosystemic shunt (TIPS).Methods:From August 2022 to December 2023, at the Department of Gastroenterology of the Air Force Medical Center, the clinical data of patients with refractory HE after TIPS who were treated with shunt reduction using the Interlock-35 fibered IDC occlusion system were retrospectively collected, which included portal vein pressure gradient (PVPG), HE grades, blood ammonia levels, prothrombin time (PT), liver function parameters, and other related indicators. The primary indicators related to the efficacy of the shunt reduction included symptom improvement, and changes in PVPG, blood ammonia levels, and Child-Pugh score. The safety of shunt reduction was analyzed based on the incidence of complications such as gastrointestinal bleeding and ascites during the follow-up period. Paired t-test was used for statistical analysis. Results:A total of 21 patients were enrolled. Prior to shunt reduction, there were 5 cases with HE of grade 3 and 16 cases with HE of grade 2. Before operation, the blood ammonia was (103.14±27.69) mol/L; and the liver function Child-Pugh grade of 1 case was classified as grade A, 16 cases as grade B, and 4 cases as grade C. Shunt reduction was performed between 7 and 1 879 d, with a median time of 99 (54, 806) d after TIPS. The procedure was technically successful in all patients, with a total of 25 coils implanted. Before shunt reduction, the PVPG was (14.02±5.28) cmH 2O (1 cmH 2O=0.098 kPa), after shunt reduction procedure, the PVPG increased to (25.05±6.04) cmH 2O, and the difference was statistically significant ( t=-11.26, P<0.001). After operation, 16 patients returned to the hospital for follow-up examinations, with a median follow-up time of 114 (46, 195) d, the blood ammonia levels, PT, and Child-Pugh scores during the follow-up were all lower than those before operation ((78.19±27.85) μmol/L vs. (105.00±30.53) μmol/L, (14.09±1.65) s vs. (15.41±2.35) s, and 6.88±1.59 vs. 8.13±1.75, respectively), and the differences were statistically significant ( t=2.23, 3.23, and 2.61; P=0.040, <0.001, =0.020). There was no statistically significant in PVPG between during follow-up and immediately post-procedure ((28.91±6.20) cmH 2O vs. (25.22±5.92) cmH 2O, P>0.05). During the follow-up period, HE symptoms disappeared in 12 patients among the 16 patients who returned to hospital for follow-up, however gastrointestinal bleeding occurred in 5 patients and ascites occurred in 3 patients; additionally, 4 patients experienced intermittent HE symptoms (grade 1 in 3 cases, grade 2 in 1 case). After operation, 5 patients were followed up via telephone, among them, 3 patients died, and 2 patients experienced intermittent HE (grade 1) which could be spontaneously restored with dietary adjustments and(or) medication. Conclusions:Interlock-35 fibered IDC occlusion system for shunt reduction is a feasible and effective treatment for refractory HE after TIPS. It can effectively improve symptoms and decrease liver function score. After shunt reduction, early follow-up and adjustment of flow reduction can help reduce the occurrence of severe complications.

Ehlers-Danlos syndromes(EDS)are a group of rare hereditary connective tissue disorders characterized by joint hypermobility,skin hyperextensibility,and tissue fragility.Short stature is defined as a height that is two standard deviations or more below the average height for individuals of the same age,sex,and race.The etiopathogenesis of short stature is complicated.Early detection and appropriate intervention are essential in disease treatment.However,short stature is not common among all EDS subtypes.It is frequently observed in patients with rare subtypes,such as spondylodysplastic EDS,dermatosparaxis EDS,and musculo-contractural EDS.Besides,height may be affected by other factors including spinal curvature and malnutrition.Deep phenotyping and multidisciplinary team approaches are recommended for the diagnosis and management.Short stature in patients with EDS has not been sufficiently acknowledged in China.There is currently a lack of high-level evidence for the treatment of EDS-related short stature.Therefore,this review aims to present recent progress of diagnosis and management of short stature in patients with EDS.Further studies focusing on short stature in rare subtypes are necessary to advance precision medicine and enhance patient care.

Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.