OBJECTIVE: To explore the efficacy of a Thalassemia risk assessment software for the screening of thalassemia mutation carriers and distribution of thalassemia genotypes detected by screening. METHODS: A total of 6 040 individuals were evaluated at Leshan Maternal and Child Health Care Hospital between 2022 and 2024 using the commonly used clinical thalassemia risk assessment method and the thalassemia screening software, respectively, and the performance indicators of the two methods were compared and analyzed against the result of thalassemia gene testing. This study was approved by the Ethics Committee of our hospital (Ethics No.: LfyLL[2022]005). RESULTS: The high-risk rate by the thalassemia screening software was 11.19%, with a sensitivity of 95.12%, specificity of 93.28%, positive predictive value of 43.20%, negative predictive value of 99.72%, and the area under the ROC curve (AUC) was 0.942. The thalassemia gene detection rate of the high-risk samples screened was 4.83%. The high-risk screening rate of the conventional method was 2.50%, with a sensitivity of 51.22%, specificity of 93.28%, positive predictive value of 80.79%, negative predictive value of 97.40%, and the AUC was 0.754. The thalassemia gene detection rate of the high-risk samples was 2.02%. CONCLUSION The software can effectively detect thalassemia carriers and significantly reduce the missed detection compared with conventional method, thereby significantly improve the efficacy of screening.
Humans ; Thalassemia/diagnosis* ; Software ; Female ; Genetic Testing/methods* ; Male ; Mutation ; Adult ; Genotype ; ROC Curve ; Risk Assessment

With the rapid advancement of hemodynamic indices and monitoring technologies, their classification methods and application processes have become increasingly complex. Currently, no unified standard hasbeen established, making it difficult to fully meet the clinical requirements for hemodynamic management. To assist in hemodynamic monitoring assessment and therapeutic decision-making in critically ill patients, the Critical Hemodynamic Therapy Collaborative Group, in conjunction with the Critical Ultrasound Study Group, has jointly developed the Standard for the Application of Hemodynamic Monitoring Techniques in Critical Care. The first part of this standard systematically categorizes hemodynamic indicators into flow indicators, pressure and its derivative indicators, and tissue perfusion indicators, while elaborating on the clinical application of each. The second part establishes a standardized clinical implementation pathway for hemodynamic monitoring. It proposes a tiered monitoring strategy-comprising basic, advanced, indication-specific, and special scenario monitoring-tailored to different clinical settings. It emphasizes the central role of critical care ultrasound across all levels of monitoring and establishes hemodynamic assessment standards for organs such as the brain, kidneys, and gastrointestinal tract. This standard aims to provide a unified framework for clinical practice, teaching, training, and research in critical care medicine, thereby promoting standardized development within the discipline.

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.

Cantharidin(CTD),a natural compound used to treat multiple tumors in the clinic setting,has been limited due to acute kidney injury(AKI).However,the major cause of AKI and its underlying mechanism remain to be elucidated.Serum creatinine(SCr)and blood urea nitrogen(BUN)were detected through pathological evaluation after CTD(1.5 mg/kg)oral gavage in mice in 3 days.Kidney lipidomics based on ultra-high performance liquid chromatography-tandem mass spectrometry(UPLC-MS/MS)was used to investigate lipids disorder after CTD exposure in mice.Then,spatial metabolomics based on matrix-assisted laser desorption/ionization-mass spectrometry imaging(MALDI-MSI)was used to detect the kidney spatial distribution of lipids.Integrative analysis was performed to reveal the spatial lipid disorder mechanism and verify key lipids in vitro.The results showed that the levels of SCr and BUN were increased,and tubular necrosis was observed in mouse kidneys,resulting in acute tubular necrosis(ATN)in CTD-induced AKI.Then,lipidomics results revealed that after CTD exposure,232 differential lipid metabolites and 11 pathways including glycerophospholipid(GP)and sphingolipid(SL)metabolism were disrupted.Spatial metabolomics revealed that 55 spatial differential lipid metabolites and nine metabolic pathways were disturbed.Subsequently,integrative analysis found that GP metabolism was stimulated in the renal cortex and medulla,whereas SL metabolism was inhibited in the renal cortex.Up-regulated lysophosphatidylcholine(LysoPC)(18∶2(9Z,12Z)),LysoPC(16∶0/0∶0),glycerophosphocholine,and down-regulated sphingomyelin(SM)(d18∶0/16:0),SM(d 18∶1/24:0),and SM(d42∶1)were key differential lipids.Among them,LysoPC(16∶0/0∶0)was increased in the CTD group at 1.1196 μg/mL,which aggravated CTD-induced ATN in human kidney-2(HK-2)cells.LysoPC acyltransferase was inhibited and choline phos-photransferase 1(CEPT1)was activated after CTD intervention in mice and in HK-2 cells.CTD induces ATN,resulting in AKI,by activating GP metabolism and inhibiting SL metabolism in the renal cortex and medulla,LysoPC(16:0/0:0),LysoPC acyltransferase,and CEPT1 may be the therapeutic targets.

The refinement of nasal tip rotation and projection is a critical step in tip sculpting in augmentation rhinoplasty. Autologous cartilage material is widely used in rhinoplasty due to its good histocompatibility and support. However, in clinical work, the profile of the nasal tip after autologous cartilage rhinoplasty often changes over time, with the phenomenon of downward rotation of the nasal tip and reduced tip projection. Thus, how to construct a stable nasal tip cartilage framework is a common problem for clinicians. This review encompasses the relevant content of nasal tip dynamics and measurement, the recent approaches to constructing the nasal tip cartilage framework, the factors influencing tip rotation and projection after rhinoplasty, the dynamic changes in nasal tip morphology after surgery, and summarizes the method to mitigate the downward rotation of the nasal tip and variations in nasal tip projection, with the aim to guide intraoperative adjustment of nasal tip morphology.

Objective:To investigate the effective ingredients and molecular mechanisms of Qizao oral liquid in the treatment of lead poisoning through network pharmacology and molecular docking technology.Methods:December 2023, the effective ingredients and their corresponding targets of Qizao oral liquid were searched from the TCM Systems Pharmacology database. Swiss Target Prediction was used to predict corresponding potential target genes of compounds. Targets associated with lead poisoning were obtained from GeneCards and OMIM databases. Cytoscape 3.10.1 software was employed to construct a components and corresponding target network as well as a components and corresponding target network, followed by visualization and cluster analysis. GO and KEGG enrichment analyses were conducted using the Metascape database, resulting in the generation of a signaling pathway-target network diagram. Molecular docking analysis between the principal compounds and target proteins was performed using Autodock 4.2.6 and Pymol 2.2.0 software to validate their underlying molecular mechanisms.Results:A total of 114 active chemical components, 361 potential targets, 2501 lead poisoning targets, and 191 intersection targets of "Qizao oral liquid and lead poisoning" were screened. Further analysis revealed that there were 2091 entries for GO biological processes and 202 KEGG signaling pathways. Enrichment analysis showed that the key targets were mainly enriched in cancer, lipid and atherosclerosis, PI3K-Akt signaling pathways. Molecular docking showed that there were 14 combinations with binding energy<-5 kcal/mol, among which PIK3R1-β-sitosterol binding energy was -9.71 kcal/mol.Conclusion:The primary active components found in Qizao oral liquid, such as β-sitosterol, nuciferine, stephanine, and stigmasterol, have the potential to modulate key targets including PIK3R1, AKT1, TP53, and NFKB1. These components are capable of influencing the PI3K-Akt signaling pathway as well as lipid and atherosclerosis pathways in order to mitigate the adverse effects of lead exposure.

Objective To analyse the mediating effect of the pain beliefs on pain and fear of disease progression in patients with trigeminal neuralgia.Methods A convenience sampling method was employed to select hospitalised 220 patients with trigeminal neuralgia as research objects from 3 Grade IIIA hospitals.The selected study subjects were surveyed with a general information questionnaire,the numeric pain rating scale,pain beliefs and perceptions scale,and fear of disease progression short form.Structural equation model was used to verify the pathways that affected the pain and pain beliefs on fear of disease progression in patients with trigeminal neuralgia.Results A total of 214 patients with trigeminal neuralgia completed the survey.The mean score of fear of disease progression was 33.38±8.47,the mean score of pain was 8.25±1.44,and the mean score of pain beliefs was-2(-9,8).Spearman correlation analysis showed that fear of disease progression was positively correlated with the pain beliefs(r=0.746,P<0.01)and pain(r=0.838,P<0.01),and the pain beliefs were positively correlated with pain intensity(r=0.704,P<0.01).Pain beliefs partially mediated between the pain and fear of disease progression in patients with trigeminal neuralgia,with a mediating effect of 0.442,a direct effect of 0.482,and a total effect of 0.924.The mediating effect accounted for 47.84%of the total effect.Conclusion Patients with trigeminal neuralgia generally have a critical state of psychologicol disfunction of fear of disease progression,with a moderate to severe pain,and moderate pain beliefs.Pain intensity in patients with trigeminal neuralgia not only directly affects fear of disease progression but also indirectly affects it through pain beliefs.

Objective To understand the epidemiological characteristics and risk factors of hospital-acquired pneumonia in elderly diabetic patients. Methods Elderly patients with diabetes mellitus who were hospitalized in the hospital were selected from October 2020 to October 2023 as the research subjects. The epidemiological characteristics of hospital-acquired pneumonia were analyzed, and the risk factors affecting hospital-acquired pneumonia in elderly patients with diabetes mellitus were analyzed . Results There were 65 cases of hospital-acquired pneumonia in 388 elderly patients with diabetes mellitus, with an incidence of 16.75%, of which 56.92% were males and 43.08% were females. The proportion of patients aged≥80 years was higher than that of patients aged<80 years. There were no significant differences in gender, body mass index, education level, course of diabetes mellitus, smoking history, drinking history, hypertension, coronary heart disease and anemia between groups (P>0.05), but significant differences were shown in age, hospitalization time, tracheal invasive operation, types of antibacterial drug use and dysphagia between both groups (P<0.05). Logistic multivariate analysis showed that age≥80 years old, hospitalization time≥30 d, tracheal invasive operation, use of antibacterial drugs≥ 2 types, and dysphagia were independent risk factors for hospital-acquired pneumonia in elderly diabetic patients (P<0.05). Conclusion The risk of hospital-acquired pneumonia is high in elderly patients with diabetes mellitus. Patients with age≥80 years old, hospitalization time≥30 days, tracheal invasive operation, abuse of antibacterial drugs and dysphagia are high-risk population. It is necessary to take active intervention measures for such patients.

Microglial pyroptosis and neuroinflammation have been implicated in the pathogenesis of sepsis-associated encephalopathy (SAE). OGT-mediated O-GlcNAcylation is involved in neurodevelopment and injury. However, its regulatory function in microglial pyroptosis and involvement in SAE remains unclear. In this study, we demonstrated that OGT deficiency augmented microglial pyroptosis and exacerbated secondary neuronal injury. Furthermore, OGT inhibition impaired cognitive function in healthy mice and accelerated the progression in SAE mice. Mechanistically, OGT-mediated O-GlcNAcylation of ATF2 at Ser44 inhibited its phosphorylation and nuclear translocation, thereby amplifying NLRP3 inflammasome activation and promoting inflammatory cytokine production in microglia in response to LPS/Nigericin stimulation. In conclusion, this study uncovers the critical role of OGT-mediated O-GlcNAcylation in modulating microglial activity through the regulation of ATF2 and thus protects against SAE progression.
Animals ; Microglia/metabolism* ; Pyroptosis/physiology* ; Mice ; Sepsis-Associated Encephalopathy/prevention & control* ; Activating Transcription Factor 2/metabolism* ; N-Acetylglucosaminyltransferases/genetics* ; Mice, Inbred C57BL ; Male ; Mice, Knockout

Cantharidin (CTD), a natural compound used to treat multiple tumors in the clinic setting, has been limited due to acute kidney injury (AKI). However, the major cause of AKI and its underlying mechanism remain to be elucidated. Serum creatinine (SCr) and blood urea nitrogen (BUN) were detected through pathological evaluation after CTD (1.5 mg/kg) oral gavage in mice in 3 days. Kidney lipidomics based on ultra-high performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) was used to investigate lipids disorder after CTD exposure in mice. Then, spatial metabolomics based on matrix-assisted laser desorption/ionization-mass spectrometry imaging (MALDI-MSI) was used to detect the kidney spatial distribution of lipids. Integrative analysis was performed to reveal the spatial lipid disorder mechanism and verify key lipids in vitro. The results showed that the levels of SCr and BUN were increased, and tubular necrosis was observed in mouse kidneys, resulting in acute tubular necrosis (ATN) in CTD-induced AKI. Then, lipidomics results revealed that after CTD exposure, 232 differential lipid metabolites and 11 pathways including glycerophospholipid (GP) and sphingolipid (SL) metabolism were disrupted. Spatial metabolomics revealed that 55 spatial differential lipid metabolites and nine metabolic pathways were disturbed. Subsequently, integrative analysis found that GP metabolism was stimulated in the renal cortex and medulla, whereas SL metabolism was inhibited in the renal cortex. Up-regulated lysophosphatidylcholine (LysoPC) (18:2(9Z,12Z)), LysoPC (16:0/0:0), glycerophosphocholine, and down-regulated sphingomyelin (SM) (d18:0/16:0), SM (d18:1/24:0), and SM (d42:1) were key differential lipids. Among them, LysoPC (16:0/0:0) was increased in the CTD group at 1.1196 μg/mL, which aggravated CTD-induced ATN in human kidney-2 (HK-2) cells. LysoPC acyltransferase was inhibited and choline phosphotransferase 1 (CEPT1) was activated after CTD intervention in mice and in HK-2 cells. CTD induces ATN, resulting in AKI, by activating GP metabolism and inhibiting SL metabolism in the renal cortex and medulla, LysoPC (16:0/0:0), LysoPC acyltransferase, and CEPT1 may be the therapeutic targets.