Objective To investigate the application of chromosome microarray analysis(CMA)in prenatal diagnosis of 18q deletion syndrome and to analyze the genotype-phenotype correlation of 18q deletion syndrome.Methods Prenatal diagnosis of three fetuses with 18q deletion syndrome was conducted through amniotic fluid karyotype analysis and CMA.Results Karyotype analysis results of the three fetuses were 46,XY,del(18)(q22);46,XY,-18,+mar;and 46,XX,del(18)(q21.2),respectively.The results of CMA showed that Case 1 had a deletion of 10.0 Mb in the 18q22.2q23 region,Case 2 had a deletion of 5.5 Mb in the 18p11.32p11.31 region and a deletion of 20.9 Mb in the 18q21.32q23 region,and Case 3 had a deletion of 24.1 Mb in the 18q21.2q23 region.Therefore,all the three fetuses had 18q deletion syndrome.Conclusion As a molecular diagnostic technique,CMA can accurately detect the location and size of pathogenic chromosome copy number,and identify the pathogenic genes.It can provide useful evidence for prenatal diagnosis and genetic counseling of 18q deletion syndrome.

Objective To analyze the clinical and cardiac magnetic resonance(CMR)characteristics of patients with Fabry disease(FD)and evaluate the application value of CMR in the early diagnosis of cardiac involvement in FD.Methods This retrospective study involved nine patients with FD confirmed by renal biopsy pathology and genetic testing at our hospital between January 2021 and October 2024.Their clinical baseline data,laboratory test reuslts,and CMR images were collected.CMR images were analyzed using CVI42 software to generate functional,morphological,and structural parameters.Results In this study,78％of the patients were male,and a high proportion(67％)had a family history of FD.Electrocardiographic abnormalities were observed in eight patients(89％),while 33％reported acroparesthesia and 22％exhibited cornea verticillata,a characteristic ocular manifestation of FD.Left ventricular hypertrophy was present in four patients,with one case also showing right ventricular hypertrophy.Late gadolinium enhancement(LGE)was positive in one patient,presenting as intermural enhancement.The mean left ventricular ejection fraction(LVEF)was within the normal range.T1 mapping demonstrated that both global and segmental native T1 values in the left ventricular myocardium were below 1 200 ms.Conclusion Multimodal CMR imaging provides crucial imaging evidence for the diagnosis of FD,with native T1 mapping showing significant clinical potential for disease staging.

Objective To investigate the role and mechanisms of acyl-CoA synthetase long-chain family member 3(ACSL3)m6A modification in suppressing ferroptosis during cisplatin resistance in non-small cell lung cancer.Methods In vitro,cisplatin-resistant human lung adenocarcinoma A549/DDP cells were subjected to the following interventions:transduction with lentiviral vectors expressing ACSL3 short hairpin RNA,transfection with Wilms'tumor 1-associating protein(WTAP)small interfering RNA(siRNA)plasmids,or co-transfection with WTAP siRNA plasmids and ACSL3 overexpression plasmids.After 48 hours,all the groups were replaced with complete medium containing 1 μg/mL cisplatin and continued to culture for 24 h.A549(or A549/DDP)cells infected with ACSL3 short hairpin RNA lentivirus were subcutaneously inoculated into the backs of nude mice to establish a subcutaneous xenograft model.Immunofluorescence assay was performed to detect ACSL3 protein expression in cisplatin-treated or normally cultured A549 and A549/DDP cells.Cisplatin sensitivity was evaluated using colony formation assays.FerroOrange staining and total iron assay kits were used to measure intracellular and tissue iron levels.Lipid peroxidation was detected using the BODIPY 581/591 C11 probe.ACSL3 m6A methylation was analyzed by MeRIP-qPCR,while RNA decay assays evaluated ACSL3 mRNA stability.qRT-PCR and Western blotting were used to measure mRNA and protein expressions of ACSL3 and WTAP.Ferritin and COX2 levels were measured by immunohistochemistry.Results After cisplatin treatment,the decrease in ACSL3 expression was significantly smaller in A549/DDP cells[(48.70±3.81)％]than in A549 cells[(65.62±2.53)％].ACSL3 knockdown significantly reduced the colony formation capacity of A549/DDP cells,but increased FerroOrange intensity,total iron levels and lipid peroxidation levels(P＜0.05).Cisplatin reduced ACSL3 m6A methylation in A549/DDP cells,with a less decline than in A549 cells(P＜0.05).WTAP knockdown accelerated ACSL3 mRNA decay and reduced m6A enrichment of ACSL3.Compared to A549/DDP cells with only WTAP knockdown,those with combined si-WTAP knockdown and ACSL3 overexpression showed increased colony formation capacity,but decreased FerroOrange intensity,total iron levels,and lipid peroxidation levels.In vivo,ACSL3 knockdown upregulated COX2 and ferritin levels,increased Fe2+and ROS levels in tumor tissues,and suppressed tumor growth.Conclusion WTAP suppresses ferroptosis and reduces cisplatin sensitivity in A549 cells by mediating m6A modification of ACSL3 mRNA,thereby regulating the progression of lung cancer.

Objective To investigate the serum amino acid levels in patients with acute schizophrenia(SCZ)and their predictive effect on the improvement of cognitive function after treatment,so as to provide new insights into the clinical intervention of cognitive impairment in SCZ patients.Methods A total of 66 patients with acute SCZ were enrolled(case group-baseline period).Among them,36 cases completed the follow-up after 3 months of standardized treatment(case group-follow-up period);52 healthy controls(HCs)were included.The MATRICS Consensus Cognitive Battery(MCCB)was used to assess the cognitive function of all the participants.Liquid chromatography-tandem mass spectrometry(LC-MS)was employed to detect the concentrations of 18 amino acids in fasting serum of the case group-baseline period and the control group.Independent samples t-test was used to compare serum amino acid levels and cognitive function between the case group-baseline period and the control group.Paired t-test was used to compare the differences in cognitive function between the baseline period and the follow-up period of the case group.Spearman correlation analysis and multivariate linear regression model were used to investigate the correlation between serum amino acid levels at baseline in the case group and the improvement of cognitive function after 3 months of treatment.Results Compared with the control group,the cognitive function of SCZ patients in multiple dimensions at baseline was significantly reduced(P＜0.05).After treatment,the scores of Trail Making Test(TMT),Brief Assessment of Cognition in Schizophrenia:Symbol Coding(BACS),Wechsler Memory Scale-Ⅲ(WMS),and Brief Visuospatial Memory Test-Revised(BVMT)in patients were significantly improved(all P＜0.05).In addition,the levels of proline,methionine,histidine,phenylalanine,arginine,tyrosine,aspartic acid,tryptophan,lysine,and glutamic acid were significantly lower in the case group at baseline than in the control group(all P＜0.05).Among them,the baseline tyrosine level had a significant predictive value for the improvement of TMT(R2=0.136,P=0.029),Neuropsychological Assessment Battery(NAB)(R2=0.339,P＜0.001),and Mayer-Salovey-Caruso Emotional Intelligence Test(MSCEIT)test(R2=0.165,P=0.015).The baseline arginine level had a significant predictive value for the improvement rate of Fluency test(R2=0.113,P=0.048).Conclusion There is a decrease in various amino acid levels in patients with SCZ,and some amino acids can effectively predict the improvement of cognitive function after treatment.

Objective This study examined changes in serum growth hormone(GH)and insulin-like growth factor 1(IGF-1)levels,as well as insulin resistance,in patients with type 2 diabetes mellitus(T2DM)across different stages of diabetic kidney disease(DKD).It explored the relationship between these factors and the occurrence and progression of DKD,with the aim of identifying new targets for the prevention and treatment of DKD.Methods In this cross-sectional study,T2DM patients aged 18-80 years were selected from the Department of Endocrinology,The Second Affiliated Hospital of Xi'an Jiaotong University,from November 30,2019 to March 30,2021.Their serum GH and IGF-1 levels were tested.Results The serum GH level increased gradually in the groups,and the difference was statistically significant(P＜0.05).The level of serum IGF-1 decreased first and then increased among the groups,but with no significant difference(P＞0.05).HOMA-IR showed no significant correlation among the groups(P＞0.05),but HOMA-β gradually decreased among the groups,with statistically significant difference(P＜0.05).Multivariate Logistic regression analysis showed that the increase of serum GH level was closely related to the progression of T2DM to early DKD,and that the increase of serum IGF-1 level might be related to the deterioration of renal function in patients with T2DM at DKD stage.HOMA-IR and HOMA-β were not found to have correlation with the occurrence or development of DKD in T2DM patients.Conclusion In patients with T2DM,elevated serum GH level is closely associated with the occurrence and progression of early DKD.The increase of serum GH level may promote the occurrence of early DKD in T2DM,and the increase of serum IGF-1 level may be related to the deterioration of renal function in clinical DKD stage.In this study,we did not find correlation of HOMA-IR and HOMA-β with the occurrence or development of DKD in T2DM patients.

Critical care medicine(CCM)is a multifaceted discipline challenged by the inherent heterogeneity and complexity of critical illnesses.Establishing precise,standardized diagnostic and therapeutic systems has emerged as a crucial challenge requiring urgent resolution in this field.Surgical critical care,a pivotal branch of CCM,plays an indispensable role in managing patients with severe trauma,postoperative intra-abdominal infections,solid organ transplantation,and other life-threatening conditions.Evidence-based,etiology-guided therapy serves as the cornerstone of surgical critical care,where accurate identification and timely interventions constitute vital determinants for enhancing patient survival rates and improving prognoses.This article proposes an innovative diagnostic and therapeutic paradigm termed the urgency/physics-biology-chemistry(U/P-B-C)model.Built upon the established principle of urgent(urgency,U)life support in surgical critical care,this model emphasizes a novel conceptual framework centered on etiology-based(physics-biology-chemistry,P-B-C)diagnosis and treatment.Implementing the U/P-B-C innovative diagnostic and therapeutic model in surgical critical care facilitates precise identification of the fundamental pathological mechanisms underlying critical clinical conditions with complex and dynamic clinical environments,enables systematic clarification of clinical reasoning,and ultimately supports evidence-informed decision-making.Its core objectives encompass enhancing surgical intensivists' diagnostic-therapeutic capabilities and ensuring rigorous adherence to the principle of etiology-guided therapy,thereby providing both theoretical foundation and practical guidance for improving the success rate of patient resuscitation and optimizing prognosis in surgical critical care settings.

Objective To investigate differences in postoperative analgesia efficacy,inflammatory response,and recovery between intraplanar(in-plane)and extraplanar(out-of-plane)thoracic paravertebral block(TPVB)techniques under ultrasound guidance in patients undergoing thoracoscopic radical resection for lung cancer,thereby providing evidence for selecting the optimal block technique in clinical practice.Methods Eighty patients undergoing thoracoscopic radical resection for lung cancer between March and September 2022 were randomly assigned to an intraplanar group(n=40)or an extraplanar group(n=40).Before induction of anesthesia,both groups received 10 mL of 0.33％ropivacaine injected into the T4 and T6 paravertebral spaces under ultrasound guidance,using their respective in-plane or out-of-plane techniques.The following parameters were compared between the groups:nerve block procedure duration,onset time of block,visual analogue scale(VAS)pain scores within 48 hours postoperatively,incidence of postoperative nausea and vomiting(PONV),and serum inflammatory and stress markers including C-reactive protein(CRP),interleukin-6(IL-6),cortisol(Cor),and norepinephrine(NE).Results No significant differences were observed between the groups in block procedure duration,onset time,or analgesic duration(P＞0.05).Compared with the extraplanar group,the intraplanar group demonstrated a significantly reduced incidence of PONV(15.0％vs.35.0％,P=0.039)and significantly lower serum levels of CRP,IL-6,and Cor at 24 hours postoperatively(P＜0.05).No pleural punctures occurred in the intraplanar group(0％),whereas the extraplanar group had a 15.0％incidence rate.However,the overall complication rate in both groups showed no statistically significant difference(P=0.060).Conclusion Both ultrasound-guided in-plane and out-of-plane TPVB techniques provide effective postoperative analgesia for thoracoscopic radical lung cancer surgery.However,the in-plane technique significantly reduces the incidence of PONV and postoperative inflammatory responses while demonstrating higher operational safety,making it the preferred clinical choice.

Objective To identify the most significantly compressed areas and the areas with the best recovery effects by analyzing the changes in vertebral height after percutaneous vertebroplasty(PVP)in patients with osteoporotic vertebral compression fractures(OVCF)through lateral radiographs.Methods A retrospective analysis was conducted on the lateral X-rays of 186 injured vertebrae from 142 patients hospitalized in our hospital's intervertebral disc center.The sagittal height of the vertebrae was measured at five different points before and after surgery,and the collected data were statistically analyzed using SPSS software.Results There were statistically significant differences in the heights of the five measured points before and after surgery within OVCF injured vertebrae(P＜0.05),in the ascending order:central＜mid-anterior＜mid-posterior＜anterior edge＜posterior edge.Comparison of the height parameters of the five measured points before and after surgery showed statistically significant differences(P＜0.01).In comparing the height restoration differences of the five measured points after PVP,the differences between central and mid-anterior,central and anterior edge,and mid-posterior and anterior edge were found not to be statistically significant(P＞0.05).The differences in height restoration for the remaining groups were statistically significant(P＜0.05),with the height restoration differences from highest to lowest being:mid-anterior,central,anterior edge,mid-posterior,posterior edge.Conclusion In patients with OVCF,the compression of the injured vertebra is most pronounced in the central part,followed by the mid-anterior part.PVP surgery can effectively restore the height of various parts of the injured vertebra,especially in the mid-anterior and central parts of the vertebral body,where the recovery effect is particularly significant.

Objective To construct a nomogram model for predicting pulmonary hemorrhage associated with the positioning of pulmonary nodules with the new four-hook positioning needle based on clinical-CT imaging features and evaluate its predictive efficacy.Methods We made a retrospective analysis of the clinical,imaging and pathological data of 449 patients with pulmonary nodules positioned by the new four-hook positioning needle.According to the random number table method(7∶3),they were divided into a training set of 314 cases and a validation set of 135 cases.Each data set was further divided into positive group and negative group for pulmonary hemorrhage according to the presence or absence of pulmonary hemorrhage.We evaluated the CT imaging features of pulmonary nodules,including nodule nature(pure ground-glass density,mixed ground-glass density,solid nodule),nodule diameter,distance from the nodule to the pleural surface(hereinafter referred to as length),nodule positioning time,and association with pulmonary hemorrhage.Independent sample t-test,Mann-Whitney U test and x2 test were used to compare the correlations of clinical and CT features of pulmonary nodules with pulmonary hemorrhage.LASSO regression and multivariate Logistic regression were employed to screen the independent risk factors related to pulmonary hemorrhage and construct a nomogram model.The receiver operating characteristic(ROC)curve was used to evaluate the predictive efficacy of the model,and the calibration curve and decision curve were respectively used for the verification of the nomogram model and evaluation of the clinical net benefit.Results The results of LASSO regression showed that the nature of pulmonary nodules,underlying diseases,smoking and length were the characteristic variables related to pulmonary hemorrhage.Based on the minimum akaike information criterion(AIC),the screened characteristic variables were included in the multivariate Logistic backward stepwise regression analysis.The results showed that the nature of pulmonary nodules,underlying diseases,smoking and length were all independent risk factors related to pulmonary hemorrhage.A nomogram was established according to the above independent risk factors and the ROC curve was drawn.The AUC of the training set was 0.86(95％CI:0.80-0.91),and the AUC of the validation set was 0.88(95％CI:0.80-0.96),with no statistically significant difference(P＞0.05).The calibration curve suggested that the predicted values of the nomogram were close to the actual values,and the decision curve analysis showed that the net benefit of the model was good.Conclusion The nomogram model established by combining clinical-CT features such as the nature of pulmonary nodules,underlying diseases,smoking and length can effectively predict pulmonary hemorrhage associated with the positioning of pulmonary nodules with the new four-hook positioning needle.

Objective To investigate the potential mechanism of atorvastatin in treating chronic subdural hematoma(CSDH)through network pharmacology and experimental validation,thereby providing theoretical foundation and experimental evidence for further basic and clinical research.Methods The target genes of atorvastatin and CSDH-related genes were identified through network databases including chEMBL,NCBI PubChem Compound,SwissTargetPrediction,GeneCards,and DisGeNET.Potential target genes of atorvastatin for CSDH treatment were screened using Venn diagrams,followed by enrichment analysis performed with R software.Protein-protein interaction(PPI)analysis was conducted using the STRING database,and molecular docking was employed to verify the binding capability between atorvastatin and the proteins encoded by the target genes.An endothelial cell inflammation model was established to assess the effects of atorvastatin on the expression and secretion of inflammation-related genes using Real-time quantitative reverse transcription polymerase chain reaction(RT-qPCR)and enzyme-linked immunosorbent assay(ELISA).The impact of atorvastatin on endothelial barrier function in the inflammation model was evaluated using the FITC-Dextran permeability assay.Results A total of 19 potential target genes of atorvastatin for CSDH treatment were identified.Enrichment analysis indicated that these genes are primarily involved in the regulation of inflammation,angiogenesis,and coagulation/fibrinolysis processes.Based on the PPI analysis,five key target genes-matrix metalloproteinase 2(MMP-2),matrix metalloproteinase 9(MMP-9),interleukin-6(IL-6),C-X-C motif chemokine ligand 8/interleukin 8(CXCL-8/IL-8),and serpin family E member 1(SERPINE-1)—were selected for molecular docking,which revealed favorable binding interactions between atorvastatin and these proteins.In the endothelial cell inflammation model,atorvastatin suppressed the expression and secretion of the aforementioned genes as well as inflammatory markers such as intercellular adhesion molecule 1(ICAM-1)and vascular cell adhesion molecule 1(VCAM-1)(IL-6:F=64.526,P＜0.001;CXCL-8/IL-8:F=37.779,P＜0.001;ICAM-1:F=86.253,P＜0.001;VCAM-1:F=39.631,P＜0.001;MMP-2:F=264.413,P＜0.001;MMP-9:F=86.675,P＜0.001;SERPINE-1:F=71.180,P＜0.001).Furthermore,atorvastatin alleviated endothelial barrier dysfunction caused by inflammation(F=343.890,P＜0.001).Conclusion Atorvastatin may exert therapeutic effects on CSDH by inhibiting inflammatory responses.