Objective To explore a method for rapid and differential diagnosis of rejection after kidney transplantation through urine hyperspectral imaging technology. Methods Hyperspectral data information from urine samples of 118 recipients after kidney transplantation was collected, and a deep learning model was constructed to diagnose and classify the types of rejection. Results A deep learning diagnostic model based on the 34-layer residual network (ResNet-34) was constructed, and 118 patients were included and divided into the training set and the test set. Based on the pathological results of the transplanted kidney puncture, the urine samples of the patients were classified into five groups: the non-rejection group, the T-cell-mediated rejection group, the antibody-mediated rejection group, the mixed rejection group and the nephropathy recurrence group. The results showed that the diagnostic sensitivities of the model for the above five groups were 0.960, 0.980, 0.930, 0.940 and 0.943 respectively, and the diagnostic specificities were 0.983, 0.993, 0.997, 0.989 and 0.989 respectively. The overall diagnostic accuracy rate reached 95.7%. Conclusions The study provides a non-invasive, rapid and accurate auxiliary diagnostic method for the differential diagnosis of rejection after kidney transplantation.

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

Obesity and its related metabolic diseases have become a major global public health threat, and its rising incidence significantly increases the risk of cardiovascular and cerebrovascular diseases, diabetes and other complications. Pancreatic lipase is a key enzyme that converts food-borne lipids into triglycerides and fatty acids, and the effective inhibition of its activity has become an important strategy for the treatment of obesity. This paper discusses the screening methods of pancreatic lipase inhibitors, and summarizes and reviews the basic principles, advantages and disadvantages and application status of traditional screening methods, modern new screening methods and virtual screening methods. In view of the problems faced by the screening methods of pancreatic lipase inhibitors, future research urgently needs to move towards a collaborative innovation path of multi-technology integration, intelligent screening and complex systematization of traditional Chinese medicine, so as to open up new research paradigms.

ObjectiveAutism spectrum disorder (ASD) is a neurodevelopmental condition characterized by difficulties with communication and social interaction, restricted and repetitive behaviors. Previous studies have indicated that individuals with ASD exhibit early and lifelong attention deficits, which are closely related to the core symptoms of ASD. Basic visual attention processes may provide a critical foundation for their social communication and interaction abilities. Therefore, this study explores the behavior of children with ASD in capturing attention to changes in topological properties. MethodsOur study recruited twenty-seven ASD children diagnosed by professional clinicians according to DSM-5 and twenty-eight typically developing (TD) age-matched controls. In an attention capture task, we recorded the saccadic behaviors of children with ASD and TD in response to topological change (TC) and non-topological change (nTC) stimuli. Saccadic reaction time (SRT), visual search time (VS), and first fixation dwell time (FFDT) were used as indicators of attentional bias. Pearson correlation tests between the clinical assessment scales and attentional bias were conducted. ResultsThis study found that TD children had significantly faster SRT (P<0.05) and VS (P<0.05) for the TC stimuli compared to the nTC stimuli, while the children with ASD did not exhibit significant differences in either measure (P>0.05). Additionally, ASD children demonstrated significantly less attention towards the TC targets (measured by FFDT), in comparison to TD children (P<0.05). Furthermore, ASD children exhibited a significant negative linear correlation between their attentional bias (measured by VS) and their scores on the compulsive subscale (P<0.05). ConclusionThe results suggest that children with ASD have difficulty shifting their attention to objects with topological changes during change detection. This atypical attention may affect the child’s cognitive and behavioral development, thereby impacting their social communication and interaction. In sum, our findings indicate that difficulties in attentional capture by TC may be a key feature of ASD.

In 2025， Severe Liver Disease and Artificial Liver Group and Nutrition and Regeneration in End-Stage Liver Disease Group of Chinese Society of Hepatology， Chinese Medical Association， convened a panel of national experts to jointly develop China’s first guideline for the diagnosis and treatment of acute-on-chronic liver failure （ACLF）. Based on the latest research findings and clinical practice in China and globally， this guideline establishes a standardized definition of ACLF and provide recommendations for its diagnosis， treatment， and clinical management. This article gives an interpretation of the key points in the guideline， in order to provide a reference for standardized diagnosis and treatment of ACLF.

Objective:To explore the effect of β-galactoside α-2-6sialyltransferase1(ST6GAL1)on glycolysis,migration and invasion of colorectal cancer(CRC)HCT116 cells and its possible molecular mechanisms.Methods:The difference in the expression of ST6GAL1 in CRC patients and healthy people was analyzed using the GEPIA2 database.WB was performed to detect the differences in the expressions of ST6GAL1 in CRC cell lines HCT116,SW480,Caco-2,HT29,LoVo and human normal colon epithelial cell line NCM460.The difference in the expressions of ST6GAL1 in CRC tissues and corresponding adjacent tissues was analyzed by immunohistochemistry.HCT116 cell lines with stably knocked down or overexpressed ST6GAL1 were constructed by lentivirus transfection.Cell migration ability was detected by scratch test.Cell invasion ability was detected by Transwell test.WB assay was performed to detect the expression levels of cell glycolysis-related proteins and Notch1 intracellular domain(Notch1 ICD)as well as the phosphorylation level of PI3K/AKT/mTOR pathway.The expression level of Notch1 ICD and its entry into nucleus were observed by immunofluorescence assay.The Notch1 receptor agonist Jagged1 was added to HCT116 cells,and the expression levels of glycolysis-related proteins and Notch1 ICD and PI3K/AKT/mTOR pathway phosphorylation level were detected by WB.Results:The expression of ST6GAL1 was up-regulated in CRC tissues and cells(all P<0.05).Compared with the control and overexpression groups,knockdown of ST6GAL1 resulted in significantly lower levels of Notch1 ICD expression and PI3K/AKT/mTORC1 phosphorylation in HCT116 cells,lower levels of cellular glycolysis-related protein expressions and weaker cell migration and invasion abilities(all P<0.05).Overexpression of ST6GAL1 increased Notch1 ICD expression levels within HCT116 cells and promoted their entry into the nucleus.Cell glycolysis-related protein expression levels were elevated(all P<0.05).Cell migration and invasion abilities were enhanced(all P<0.05).Conclusion:ST6GAL1 activates the PI3K/AKT/mTORC1 pathway through activation of Notch1 receptor and phosphorylation,thus enhancing the glycolytic level and migration and invasion abilities of CRC cells.

Objective To explore the value of MRI subtraction technique(ST)for evaluating the efficacy of systemic therapy for advanced hepatocellular carcinoma(HCC)and predicting prognosis after combining with surgery.Methods Totally 35 patients with 39 HCC lesions who received systemic therapy+radical resection were retrospectively collected.Based on preoperative MRI,tumor activity ratio(recorded as tumor activityST)was obtained with ST,while tumor activity value(recorded as tumor activitypathology)was obtained through postoperative pathology,and their correlation was analyzed.The patients were regularly followed up after surgery,and the survival data were recorded.Receiver operating characteristic(ROC)curve was drawn to evaluate the efficacy of tumor activityST for predicting patients'survival status.Then the patients were divided into survival benefit group and no survival benefit group according to the cut-off value,and survival analysis was conducted.Results Tumor activityST was positively correlated with tumor activitypathology(r=0.900,P＜0.001).The median follow-up time was 32.93 months,during which 8 patients died,and the median survival time was 29.9 months.The area under the curve(AUC)of tumor activityST for predicting patients'survival status was 0.67,and the cut-off value was 0.36.Thirty patients with tumor activityST＜0.36 were enrolled in survival benefit group,while 5 patients≥0.36 were collected in no survival benefit group.The overall survival in survival benefit group was longer than that in no survival benefit group(P＜0.001).Conclusion MRI ST could be used to non-invasively evaluate the efficacy of systemic therapy for advanced HCC and predict prognosis after combining with surgery.

Objective:To explore the clinical application value of press-needle assisted sedation therapy in sedation treatment of intensive care unit (ICU) under bispectral index (BIS) monitoring.Methods:A total of 30 critically ill patients admitted to the ICU of the China-Japan Friendship Hospital from July 2024 to January 2025 were selected. A prospective self before-after control method was used. On the basis of conventional analgesic and sedative drug treatment, traditional Chinese medicine press-needles were combined to stimulate the head emotion area, Yintang (GV29), Hegu (LI4), Neiguan (PC6), and Zusanli (ST36). The BIS, dosages of remifentanil and propofol, respiratory and circulatory functions, and lactate levels before and after treatment were compared.Results:The BIS value dropped to stability (21.90±13.67)min after press-needle treatment, with a decrease of (5.73±1.42) ( P<0.05). The dosage of propofol within 8 h after press-needle treatment was reduced by (1.08±0.33)mg/kg compared with that before treatment ( P<0.05). There were no significant differences in heart rate, blood pressure, oxygenation index, and lactate level before and after treatment (all P>0.05). Conclusions:Press-needle assisted sedation therapy can improve the sedative effect, reduce the dosage of propofol sedatives, and has good safety.

Objective:To explore the pathogenesis, clinical manifestations and ultrasonic imaging features of neurogenic pulmonary edema, aiming to improve clinicians' diagnosis and treatment level of neurogenic pulmonary edema and reduce missed diagnosis and misdiagnosis.Methods:The ultrasonic features and clinical data of a patient with neurogenic pulmonary edema were retrospectively analyzed, and the imaging features, diagnosis and treatment experience of neurogenic pulmonary edema were summarized by combining with literature analysis.Results:The ultrasonic manifestation of neurogenic pulmonary edema was diffuse B-lines in the lungs, and etiological diagnosis needed to be further confirmed by combining with clinical data. Electrical impedance tomography for dynamically monitoring pulmonary ventilation may guide respiratory treatment.Conclusions:Neurogenic pulmonary edema is mostly secondary to craniocerebral injury, and the case-fatality rate is extremely high once it occurs. Early application of bedside point-of-care ultrasound for rapid assessment, comprehensive monitoring and precise treatment can significantly improve the prognosis of patients.

To investigate the transcriptionally regulatory mechanism of the senp8 promoter in yellow cat-fish(Pelteobagrus fulvidraco);this study used P.fulvidraco as the research subject.Dual-luciferase re-porter assay and electrophoretic mobility shift assay were employed to analyze the functional activity of the promoter;coupled with in vivo experiments.The results indicated that the 2 045 bp senp8 promoter se-quence contained key transcription factor binding sites such as SP1;TATA-Box;CCAAT-Box;SREBP1;PPARα;and PPARγ.The binding sites of SREBP1(-901/-910 bp);PPARα(-1 291/-1 308 bp);and PPARγ(-1 292/-1 306 bp)in the senp8 promoter positively regulate its activity;and oleic acid or palmitic acid promote this binding.Furthermore;high-fat feeding promoted the expression of the senp8 gene and its protein in the liver of P.fulvidraco;oleic acid or palmitic acid treatment significantly en-hanced the activity of the senp8 promoter;and this enhancement could be achieved through the regulatory effects of SREBP1;PPARα;and PPARγ response elements.Additionally;high-fat feeding influenced the mRNA and protein expression levels of genes related to deSUMOylation modification in the liver of P.fulvidraco.This study provides new insights into the relationship between deSUMOylation modification and the regulation of lipid metabolism in the vertebrates.