BACKGROUND:The most common complication of traumatic femoral neck fractures after internal fixation is femoral head necrosis.Currently,many studies have reported on the risk factors that affect the occurrence and development of postoperative femoral head necrosis,but there is still a lack of tools to predict the risk of femoral head necrosis after internal fixation of femoral neck fractures.OBJECTIVE:To develop a predictive model that estimates the risk of femoral head necrosis shortly after patients with femoral neck fractures receive cannulated screw internal fixation.METHODS:A retrospective analysis reviewed clinical records of 172 patients who underwent cannulated screw internal fixation for femoral neck fractures at Department of Orthopedics of Mianyang Central Hospital from January 2013 to June 2023.Patients were categorized into two groups based on the presence or absence of femoral head necrosis within one year post-operation:the necrosis group and the non-necrosis group.Univariate analysis,Lasso regression,and multivariate Logistic regression techniques were employed to identify the determinants of femoral head necrosis.A nomogram prediction model was constructed using R language's"rms"package,version 4.0.The receiver operating characteristic curve was used to evaluate the discriminatory ability of the model.The Hosmer-Lemeshow test was used to evaluate the goodness of fit of the model,and the decision curve analysis was used to determine its clinical application benefits.Internal validation of the study was conducted using the Bootstrap method,involving 1 000 repeated samplings.To delve deeper into the primary factors influencing femoral head necrosis post-internal fixation of the femoral neck,this paper employed the SHAP method for data set analysis.RESULTS AND CONCLUSION:(1)The risk factors leading to femoral head necrosis in the short term after cannulated screw fixation of femoral neck fractures include:smoking,diabetes,Garden classification,fracture line location,reduction quality,age,and operation time.(2)The prediction model demonstrated robust performance,evidenced by an area under the curve of 0.940(95％Confidence Interval:0.903 to 0.977),indicating a high level of prediction accuracy.The model achieved a sensitivity of 90.2％and a specificity of 87.6％,indicating that its diagnostic performance was stable.The Hosmer-Lemeshow goodness-of-fit test yielded a chi-square value of 6.593 with a P-value of 0.581,confirming that the model's predictions closely align with the observed outcomes.(3)The calibration curve of the model also performed well,and its overall trend was very close to the ideal curve,further proving the high accuracy of the model.(4)The internal validation was carried out by the Bootstrap method with 1 000 repeated samplings,and the area under the curve of the model internal validation was still as high as 0.939,proving that the model had good stability.(5)Through the decision curve,it is found that within the probability threshold range of 1％to 92％,the model can obtain the maximum net benefit value.(6)The SHAP analysis results show that among the risk factors analyzed in this study,the location of the fracture line serves as the most significant predictor of femoral head necrosis following internal fixation with cannulated screws in femoral neck fractures,and subcapital fractures are extremely prone to femoral head necrosis after surgery.(7)It is concluded that the validated prediction model demonstrates strong discriminative power and reliability,offering practical clinical utility.It serves as a useful reference tool for short-term risk assessment of femoral head necrosis following internal fixation of femoral neck fractures.

OBJECTIVE: To delineate the clinical and genetic features of a Chinese girl harboring a rare de novo variant of SYNGAP1 associated with Mental retardation, autosomal dominant 5 (MRD5), and to conduct a comprehensive genotype-phenotype correlation analysis within the Chinese population through an extensive literature review. METHODS: A 5-year-old girl presenting with seizures without an obvious cause was enrolled in September 2020. Genomic DNA was extracted from the patient and her parents. Whole exome sequencing (WES) was performed on the proband to identify suspected pathogenic variants based on her clinical phenotype. Sanger sequencing was used for validation, followed by bioinformatic analysis of the variant. Additionally, data from 54 previously reported Chinese cases with SYNGAP1 variants were integrated to summarize the distribution of variant types and clinical characteristics. Ethical approval was obtained from the Ethics Committee of Kunming Children's Hospital (Ethics No.: 2021-03-055-K01). RESULTS: WES identified a heterozygous nonsense variant, SYNGAP1 c.725G>A (p.Trp242*), in the proband. Sanger sequencing confirmed it was a de novo variant. According to the ACMG guidelines, this variant was classified as pathogenic (PVS1+PS2). Based on the clinical manifestations, the patient was diagnosed with MRD5. Bioinformatic analysis suggested that this variant introduces a premature stop codon at tryptophan 242, disrupting the PH domain and leading to the loss of the C2, Ras-GAP, and C-terminal domains. The pooled analysis of Chinese cases revealed that nonsense (38.2%) and frameshift (36.4%) variants were the predominant types. Intellectual disability/developmental delay was present in 100.0% of patients, epilepsy in 83.6%, and autism spectrum disorder in 41.3%. The incidence of epilepsy differed significantly among variant types (P = 0.045). Exons 8 and 15 were identified as mutation hotspots. CONCLUSION This study has identified a SYNGAP1 c.725G>A variant in the Chinese population and confirmed it as a potential cause of MRD5, which expanded the mutational spectrum of this disorder.
Humans ; Female ; Child, Preschool ; Intellectual Disability/genetics* ; ras GTPase-Activating Proteins/genetics* ; Phenotype ; Exome Sequencing ; Genetic Association Studies

Objective: To investigate the prevalence of overweight and obesity among children and adolescents in Yangzhou City, and its association with screen behaviors, so as to provide scientific evidence for weight management among students. Methods: In May 2025, an electronic questionnaire survey was conducted among children and adolescents in Yangzhou City. A total of 3 722 participants were selected from grades 4 to 12 in 18 primary and secondary schools (108 classes) by using stratified cluster random sampling. The Chi square test was used to compare the differences in the detection rates of overweight and obesity among children and adolescents with 5 types of screen behaviors (watching TV, playing electronic games, scrolling short videos, screen based learning, electronic socializing) in different time groups each day (never, >0~<2 h, ≥2 h). Multivariate Logistic regression analysis was performed to examine the associations of five types of screen behaviors, presence of electronic devices in the bedroom, and screen use during meals on the weight status of children and adolescents. Results: The prevalence of overweight and obesity among children and adolescents was 37.3%. For all five types of screen behaviors, the differences in the distribution of overweight and obesity detection rates among children and adolescents across the three time spent categories were statistically significant ( χ 2=30.76- 70.78 , all P <0.01). After adjusting for confounding factors, multivariate Logistic regression analysis revealed that frequent or always using screens during meals( OR =1.63, 95％ CI =1.14~2.31), playing video games ( OR =1.28, 95% CI =1.11-1.48), browsing short videos ( OR =1.29, 95％ CI=1.09-1.54), and screen based learning ( OR =1.26, 95％ CI =1.10-1.44) were significantly associated with overweight and obesity among children and adolescents (all P <0.05). Conclusions Excessive screen use is positively correlated with the incidence of overweight and obesity in children and adolescents. Targeted interventions on screen behaviors among children and adolescents are therefore warranted.

BACKGROUND:The most common complication of traumatic femoral neck fractures after internal fixation is femoral head necrosis.Currently,many studies have reported on the risk factors that affect the occurrence and development of postoperative femoral head necrosis,but there is still a lack of tools to predict the risk of femoral head necrosis after internal fixation of femoral neck fractures.OBJECTIVE:To develop a predictive model that estimates the risk of femoral head necrosis shortly after patients with femoral neck fractures receive cannulated screw internal fixation.METHODS:A retrospective analysis reviewed clinical records of 172 patients who underwent cannulated screw internal fixation for femoral neck fractures at Department of Orthopedics of Mianyang Central Hospital from January 2013 to June 2023.Patients were categorized into two groups based on the presence or absence of femoral head necrosis within one year post-operation:the necrosis group and the non-necrosis group.Univariate analysis,Lasso regression,and multivariate Logistic regression techniques were employed to identify the determinants of femoral head necrosis.A nomogram prediction model was constructed using R language's"rms"package,version 4.0.The receiver operating characteristic curve was used to evaluate the discriminatory ability of the model.The Hosmer-Lemeshow test was used to evaluate the goodness of fit of the model,and the decision curve analysis was used to determine its clinical application benefits.Internal validation of the study was conducted using the Bootstrap method,involving 1 000 repeated samplings.To delve deeper into the primary factors influencing femoral head necrosis post-internal fixation of the femoral neck,this paper employed the SHAP method for data set analysis.RESULTS AND CONCLUSION:(1)The risk factors leading to femoral head necrosis in the short term after cannulated screw fixation of femoral neck fractures include:smoking,diabetes,Garden classification,fracture line location,reduction quality,age,and operation time.(2)The prediction model demonstrated robust performance,evidenced by an area under the curve of 0.940(95％Confidence Interval:0.903 to 0.977),indicating a high level of prediction accuracy.The model achieved a sensitivity of 90.2％and a specificity of 87.6％,indicating that its diagnostic performance was stable.The Hosmer-Lemeshow goodness-of-fit test yielded a chi-square value of 6.593 with a P-value of 0.581,confirming that the model's predictions closely align with the observed outcomes.(3)The calibration curve of the model also performed well,and its overall trend was very close to the ideal curve,further proving the high accuracy of the model.(4)The internal validation was carried out by the Bootstrap method with 1 000 repeated samplings,and the area under the curve of the model internal validation was still as high as 0.939,proving that the model had good stability.(5)Through the decision curve,it is found that within the probability threshold range of 1％to 92％,the model can obtain the maximum net benefit value.(6)The SHAP analysis results show that among the risk factors analyzed in this study,the location of the fracture line serves as the most significant predictor of femoral head necrosis following internal fixation with cannulated screws in femoral neck fractures,and subcapital fractures are extremely prone to femoral head necrosis after surgery.(7)It is concluded that the validated prediction model demonstrates strong discriminative power and reliability,offering practical clinical utility.It serves as a useful reference tool for short-term risk assessment of femoral head necrosis following internal fixation of femoral neck fractures.

ObjectiveHepatocellular carcinoma (HCC) represents 90% of all primary liver cancers. The main risk factors associated with HCC include viral hepatitis (B and/or C), alcohol abuse, and metabolic dysfunction-associated steatotic liver disease (MASLD), which progressively advance to liver fibrosis, cirrhosis, and ultimately evolve into HCC. Surgical resection represents the most effective treatment for HCC, while recent advances in immunotherapy, including immune checkpoint inhibitors and adoptive cell therapies, have provided improved treatment prospects for patients with unresectable HCC. However, the complex metabolic heterogeneity of HCC limits the therapeutic efficacy. Metabolic intermediates acyl-CoA not only provide energy and substrates for numerous biochemical reactions but also serve as donors for protein lysine acylation, a major class of post-translational modification (PTM). Therefore, a deeper understanding of the molecular mechanisms underlying protein lysine acylation and hepatocarcinogenesis is urgently needed. MethodsThe levels of protein lysine acylation and silence information regulator 5 (SIRT5) expression levels in clinical HCC samples were analyzed by Western blot. Quantitative malonylome and succinylome of HCC samples were analyzed by antibody-based affinity enrichment coupled with tandem mass spectrometry. The proliferation of HCC cells was analyzed with Cell Counting Kit-8 (CCK-8) assays, the apoptosis was quantified by Annexin V-FITC/propidium iodide (PI) staining coupled with flow cytometry, and the ability of cells to migrate was assayed by Transwell assays. The enzymatic activity of glutathione S-transferase Mu 1 (GSTM1) was quantified. Transgenic mice with hepatic overexpression of SIRT5 were constructed using CRISPR-Cas9, and primary hepatocarcinogenesis was induced by administration of diethylnitrosamine. ResultsWestern blot analysis indicated that the expression level of SIRT5 was elevated in clinical samples from HCC patients, and the levels of lysine malonylation, glutarylation, and succinylation were significantly reduced in HCC tissues. Knockout of SIRT5 in MHCC-97H and MHCC-97L hepatoma cells suppressed cell proliferation, and increased the percentage of apoptotic cells significantly. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses of the differentially malonylome and succinylome of HCC samples revealed significant enrichment in two major classes of biological processes: core energy metabolism (e.g., glycolysis/gluconeogenesis, tricarboxylic acid metabolic process, fatty acid beta oxidation) and detoxification and oxidative stress response (e.g., response to toxic substance, chemical carcinogenesis, reactive oxygen species (ROS)). SIRT5 removes malonylation from lysine residues in GSTM1 and restores its detoxification activity, which is crucial for the survival of hepatocytes under stressed conditions. More importantly, in vivo experiment indicated that hepatic-specific overexpression of SIRT5 in mice accelerated diethylnitrosamine-induced liver fibrosis and hepatocarcinogenesis, indicating the critical role of SIRT5 in HCC progression. ConclusionThis study highlights the previously unrecognized SIRT5-GSTM1 axis as a key regulator in hepatocarcinogenesis, and suggests a potential target for the treatment of patients with HCC.

During the critical period of global cancer epidemiological transition, the American Cancer Society (ACS) recently published "Cancer Statistics, 2026" on the projected cancer data in the United States. To objectively evaluate the differences in cancer control systems between China and the United States, we compared the actual data of 2022 from National Cancer Center of China (NCC) with the latest the United States data. The mortality-to-incidence (M/I) ratio was used as the core indicator to evaluate clinical diagnosis and screening efficiency, and the Joinpoint regression trends from the source reports were analyzed. In addition, a sensitivity analysis model was built to adjust for the differences in the proportion of death-certificate-only (DCO) cases and the potential impact of the COVID-19 pandemic on China's 2022 cancer screening data. There is a significant contrast in the epidemiological characteristics of cancer between China and the United States in terms of cancer species composition and overall prognosis, which essentially reflects the differences in the epidemiological history of the two countries. This also suggests that in the future, China's cancer prevention and control strategies should shift towards precise hierarchical management to further narrow the gap in health efficacy.

Objective To evaluate the efficacy and safety of rabbit anti-human thymocyte immuneglobulin(rATG)induction therapy in kidney transplant recipients from donation after cardiac death in China.Methods This was a prospective,multicenter,single-arm and interventional study conducted in China(NCT03099122).Adult patients who underwent kidney transplantation from donation after cardiac death and received rATG induction therapy(cumulative dose of 5 mg/kg)were included.Univariate and multivariate logistic regression analyses were used to identify factors associated with acute rejection(AR),delayed graft function(DGF),graft failure and patient death.The occurrence of adverse events was also analyzed.Results A total of 115 adult patients were enrolled in the study,of whom 107 were evaluable for efficacy.The incidence of biopsy-proven acute rejection(BPAR)and acute rejection(AR)was 2.8%(95%confidence interval 0.6%-8.0%)and 4.7%(95%confidence interval 1.5%-10.6%),respectively.The incidence of delayed graft function(DGF)was 13.1%(95%confidence interval 7.3%-21.0%).Graft and patient survival rates were 97.2%(95%confidence interval 92.0%-99.4%)and 99.1%(95%confidence interval 94.9%-100%),respectively.Multivariate logistic regression analysis showed that donor serum creatinine and recipient panel reactive antibodies were risk factors for DGF(both P<0.05).Common treatment-emergent adverse events(incidence>5%)included anemia(8.7%),infectious pneumonia(8.7%),and urinary tract infection(8.7%).Conclusions Standard-dose rATG induction therapy demonstrates low incidences of BPAR,AR,and DGF,and good safety in kidney transplant recipients from donation after cardiac death in China.

Objective To optimized the extraction process of the"Honghuangbai"gel and to establish the content determination method of the gel.Methods The contents of salidroside,berberine hydrochloride and 1,4-bis[4-(glucose-oxy)benzyl]-2-isobutyl malate in"honghuangbai"extract were determined by HPLC with gradient elution;the content of total polysaccharide was determined by anthrone-sulfuric acid method.AHP-CRITIC composite weighting method was used to calculate the weight coefficient of 4 indicators,and the comprehensive score was taken as the evaluation index.Combined with L9(34)orthogonal experiment design,the effects of solid-liquid ratio,extraction time and times on the extraction process of"honghuangbai"gel were investigated,and the optimal extraction process was selected and verified.The method for the determination of 4 index components in the gel was established and the methodology was investigated.Results The optimal solid-liquid ratio was 1∶45,the optimal extraction time was 2 h and the optimal extraction times was twice.The linear relationships of the four indexes were good in their respective linear ranges,with R2＞0.999 0.The average recoveries were 98.67％～102.09％,and RSD was 0.77％～3.17％.Good precision,repeatability and stability,RSD≤2.28％.Conclusion The optimal extraction process of"honghuangbai"gel optimized by AHP-CRITIC combined with orthogonal test is stable and economical.The method of the gel content determination is feasible and the result is reliable,which provides experimental basis for the establishment of the quality standard of the gel.

Objective To investigate the impact of county-level"Unified ECG Network"construction on the treatment efficiency and clinical outcomes of patients with acute ST-segment elevation myocardial infarction(STEMI).Methods A retrospective analysis was conducted on the clinical data of STEMI patients from Beichuan County and Yanting County in Mianyang City,and Jiange County in Guangyuan City,Sichuan Province,during the 18 months before(128 cases)and 18 months after(187 cases)the establishment of the"Unified ECG Network."Differences in demographic characteristics,treatment efficiency,therapeutic methods,and clinical outcomes between the two groups were compared.Results There was no statistically significant difference in general demographic characteristics between the two groups(all P＞0.05).Compared with the pre-construction group,the post-construction group showed significantly shorter times in initial ECG completion[5(3,7)min vs.6(4,8)min],initial ECG diagnosis[3(2,4)min vs.5(2,6)min],first medical contact to preliminary diagnosis[10(9,12)min vs.13(11,15)min],network hospital door-in-door-out time[21(19,23)min vs.26(23,30)min],and first medical contact to wire-crossing time[(94.82±11.87)min vs.(107.97±18.39)min](allP＜0.001).The proportion of patients bypassing the emergency department and coronary care unit significantly increased(64.17％vs.32.81％,P＜0.001).The proportion of patients undergoing emergency percutaneous coronary intervention significantly increased(72.73％vs.51.56％,P＜0.001),while the proportions of thrombolytic therapy and non-reperfusion therapy significantly decreased(both P＜0.05).Additionally,in-hospital mortality rate,Killip class≥Ⅱ proportion,incidence of major adverse cardiovascular events,and average length of hospital stay were all significantly reduced(all P＜0.05).There were no statistically significant differences among the three county-level chest pain centers in terms of major treatment efficiency,therapeutic strategies,or clinical outcomes(all P＞0.05).Conclusions The construction of the county-level"Unified ECG Network"can significantly improve the treatment efficiency of STEMI patients,optimize reperfusion therapy strategies,improve clinical outcomes,and demonstrate substantial clinical promotion value.

Objective To build a hospital data service portal system based on central authentication service(CAS)to solve the problems of dispersed user identity data and low management efficiency caused by independent operation of multiple systems.Methods The CAS-based hospital data service portal system was designed with B/S architecture and developed with Spring MVC framework,which implemented unified authentication with CAS technology and achieved standardized access protocols for integrated access,centralized management and service consolidation across various application systems.There were five functional modules involved in the system for homepage,workflow management,system administration,log management and message management.Results The system significantly enhanced user accessibility and data extraction efficiency,effectively reduced the complexity of system integration and operational maintenance burdens and ensured user privacy and data security.Conclusion The portal system provides users with an easy-to-use,secure and reliable data service portal,laying the foundation for building an efficient,intelligent and safe hospital data service system.