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.

ObjectiveTo investigate the recurrence of ischemic stroke (IS) and to analyze the association between four indices of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG) and the risk of IS recurrence by analyzing the follow-up data related to IS in the community-based natural population of Songjiang District, Shanghai, so as to provide a scientific basis for improving the prognosis of stroke patients in the community and controlling IS recurrence. MethodsA prospective follow-up study was conducted among the IS patients in the community-based cohort population, collecting data about patient’s age, gender, disease history, biochemical indicators, and etc. Cox regression model and restricted cubic spline model were used to analyze the relationship between different levels of plasma lipids and the recurrence of IS in these patients. ResultsA total of 1 368 patients with IS were included. The total follow-up duration was 7 171.46 person-years, with a median follow-up time of 6.24 years. There were 420 cases of IS recurrence, resulting in a cumulative recurrence rate of 30.70%. The results of multivariate Cox regression analysis showed that the recurrence risk of IS was reduced when the baseline TC and LDL-C levels of IS patients were in the ranges of 4.65‒5.67 mmol·L^-1 and 2.52‒3.46 mmol·L^-1, respectively. The results of restricted cubic spline analysis showed a U-shaped relationship between baseline TC and LDL-C levels and the recurrence risk in IS patients. ConclusionThe cumulative recurrence rate of patients with IS in the community of Songjiang District in Shanghai is high, and the levels of TC and LDL-C at baseline survey are correlated with the recurrence of IS in these patients. It is suggested to pay more attention to the levels of LDL-C and TC in patients with IS, so as to improve the prognosis.

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.

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 investigate the effects of acute sleep deprivation (ASD) on hippocampal glucose metabolism and neuroinflammation in rat models.Methods:Twenty SD rats (10 males and 10 females) were divided into four groups (five in each group) by random sampling method: female ASD group, male ASD group, female control group, and male control group. Among them, the ASD group constructed the ASD model. After 72h sleep deprivation, all rats underwent 18F-FDG and N, N-diethyl-2-(2-(4-(2- 18F-fluoroethoxy)phenyl)-5, 7-dimethylpyrazolo[1, 5-a]pyrimidin-3-yl)acetamide ( 18F-DPA-714) microPET/CT brain imaging in 2d to compare the changes of 18F-FDG and 18F-DPA-714 SUV mean in the hippocampus of rats. Brain histopathology, immunohistochemistry and immunofluorescence staining were detected in rats. Independent-sample t test was used to analyze the data. Results:18F-FDG imaging showed the hippocampal SUV mean between ASD group and control group (female: 4.11±0.35 vs 1.89±0.28; male: 3.43±0.47 vs 2.02±0.54) were statistically significant ( t values: 9.65, 3.92, P values: <0.001, 0.002). 18F-DPA-714 imaging showed the hippocampal SUV mean between ASD group and control group (females: 0.28±0.01 vs 0.28±0.02; male: 0.26±0.02 vs 0.31±0.04) were not statistically significant ( t values: -0.18, -2.24, P values: 0.859, 0.056). The 18×10 3 translocator protein (TSPO) immunohistochemistry showed the expression in the hippocampal region of the brain between ASD group and control group (female: 0.19±0.02 vs 0.19±0.01; male: 0.21±0.01 vs 0.20±0.01) were not statistically different ( t values: -0.48, -1.67, P values: 0.651, 0.139). Immunofluorescence staining showed that microglial cytosol in the hippocampal region of the brain decreased after 72h of ASD, and the protrusion points and surrounding branches were significantly reduced. Conclusion:Increased hippocampal glucose metabolism in rats is observed after 72 h of ASD without significant neuroinflammation.

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 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.

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.