Objective:This study aimed to identify key genes in endothelial cell (EC) associated with the pathogenesis and progression of human venous malformations (VMs) through bioinformatics analysis, providing potential biomarkers for early screening and targeted therapy of VMs.Methods:A case-control study was conducted using surgically resected tissue specimens from VMs patients at the Third Affiliated Hospital of Zhengzhou University (from September 2021 to September 2023), with malformed venous tissues as the experimental group and distal normal venous tissues as controls. Single-nucleus RNA sequencing (snRNA-seq) was performed on paired experimental and control samples from four VM patients. High-dimensional weighted gene co-expression network analysis (hdWGCNA), combined with gene ontology (GO), Kyoto encyclopedia of genes and genomes (KEGG), and protein-protein interaction (PPI) network analysis, identified critical genes. Validation experiments included 15 additional VM cases and controls using reverse transcription quantitative polymerase chain reaction (RT-qPCR), immunohistochemistry (IHC), and Western blot.Results:A total of 55 430 nuclei were captured using snRNA-seq, with 30 391 nuclei from the experimental group and 25 039 nuclei from the control group. Cluster analysis identified 22 distinct cell populations, which were annotated into 8 cell types. hdWGCNA revealed four modules associated with invasion, which were enriched in angiogenesis, integrin signaling, and cell adhesion according to GO analysis. KEGG pathway analysis indicated that the PI3K-AKT signaling pathway and focal adhesion are key regulatory mechanisms. PPI network analysis combined with cytoscape identified EGFL7, TEK, and FLT1 as key genes. RT-qPCR results demonstrated that the relative mRNA expression levels of these three genes in the experimental group (6.66±2.31, 1.86±0.62, 3.49±0.58) were significantly higher than those in the control group (1.05±0.14, 1.00±0.14, 1.06±0.25), with statistically significant differences ( t=9.37, 4.27, 11.20, P<0.05). Immunohistochemical analysis showed that the relative protein expression levels of these three genes in the cytoplasm of the experimental group (0.84±0.15, 0.68±0.14, 0.85±0.12) were also significantly higher than those in the control group (0.19±0.05, 0.23±0.06, 0.30±0.05), with statistically significant differences ( t=16.62, 5.93, 11.68, P<0.05). Western blot analysis confirmed that the relative protein expression levels of these three genes in the experimental group (0.35±0.04, 0.36±0.09, 0.31±0.04) were significantly higher than those in the control group (0.19±0.01, 0.13±0.02, 0.14±0.04), with statistically significant differences ( t=7.05, 4.61, 5.93, P<0.05). Conclusion:EGFL7, FLT1, and TEK in EC may play crucial roles in the occurrence and invasion of VMs.

Objective:To evaluate the correlation between preoperative platelet function and in-hospital mortality in patients with acute Stanford A aortic dissection(ATAAD) undergoing emergency surgery.Methods:ATAAD emergency surgical patients who underwent preoperative thromboelastography(TEG) examination at three cardiovascular disease hospitals from January 2018 to December 2023 were consecutively selected in this study. The patients were divided into two groups according to whether the patient survived to discharge.Results:867 patients were included in this study. The in-hospital mortality was 11.2%(97 cases). Compared with the DG group(97 cases), the age, pericardial effusion volume, lactate concentration, and MA value of patients in the SG group(770 cases) were higher( P<0.001). Factors independently associated with in-hospital mortality were age(>60 years old), coronary hypoperfusion, pericardial effusion volume(>200.00 ml), and MA value(<60.6 mm). There was a correlation between MA value and in-hospital mortality( P=0.012), and the mediating effect between MA value and platelet count was not significant. Conclusion:There is a correlation between preoperative platelet function and in-hospital in ATAAD patients, and improving platelet function may be one of the important ways to improve the clinical prognosis of those patients.

A 36-year-old male patient presented with repeated myocardial infarction. Despite regular dual-antiplatelet therapy and intensive lipid-lowering therapy, he still experienced restenosis after coronary stent implantation. He then transferred to the Zhongshan Hospital, Fudan University. According to the disease history, combined with coronary artery inflammation observed by PET/CT and effective anti-inflammatory treatment, he was finally diagnosed with Behçet’s disease (BD) combined with isolated coronary arteritis. BD has been included in the Chinese Second Catalog of Rare Diseases, and the disease that only involves the coronary arteries is even rarer, which makes it very easy to misdiagnose and underdiagnosis in clinical practice. Strengthening the understanding of the complex clinical phenotypes of various vasculitis, attaching importance to multidisciplinary consultation, and dynamically following up are of great value for the early diagnosis of this disease.

Objective:This study aimed to identify key genes in endothelial cell (EC) associated with the pathogenesis and progression of human venous malformations (VMs) through bioinformatics analysis, providing potential biomarkers for early screening and targeted therapy of VMs.Methods:A case-control study was conducted using surgically resected tissue specimens from VMs patients at the Third Affiliated Hospital of Zhengzhou University (from September 2021 to September 2023), with malformed venous tissues as the experimental group and distal normal venous tissues as controls. Single-nucleus RNA sequencing (snRNA-seq) was performed on paired experimental and control samples from four VM patients. High-dimensional weighted gene co-expression network analysis (hdWGCNA), combined with gene ontology (GO), Kyoto encyclopedia of genes and genomes (KEGG), and protein-protein interaction (PPI) network analysis, identified critical genes. Validation experiments included 15 additional VM cases and controls using reverse transcription quantitative polymerase chain reaction (RT-qPCR), immunohistochemistry (IHC), and Western blot.Results:A total of 55 430 nuclei were captured using snRNA-seq, with 30 391 nuclei from the experimental group and 25 039 nuclei from the control group. Cluster analysis identified 22 distinct cell populations, which were annotated into 8 cell types. hdWGCNA revealed four modules associated with invasion, which were enriched in angiogenesis, integrin signaling, and cell adhesion according to GO analysis. KEGG pathway analysis indicated that the PI3K-AKT signaling pathway and focal adhesion are key regulatory mechanisms. PPI network analysis combined with cytoscape identified EGFL7, TEK, and FLT1 as key genes. RT-qPCR results demonstrated that the relative mRNA expression levels of these three genes in the experimental group (6.66±2.31, 1.86±0.62, 3.49±0.58) were significantly higher than those in the control group (1.05±0.14, 1.00±0.14, 1.06±0.25), with statistically significant differences ( t=9.37, 4.27, 11.20, P<0.05). Immunohistochemical analysis showed that the relative protein expression levels of these three genes in the cytoplasm of the experimental group (0.84±0.15, 0.68±0.14, 0.85±0.12) were also significantly higher than those in the control group (0.19±0.05, 0.23±0.06, 0.30±0.05), with statistically significant differences ( t=16.62, 5.93, 11.68, P<0.05). Western blot analysis confirmed that the relative protein expression levels of these three genes in the experimental group (0.35±0.04, 0.36±0.09, 0.31±0.04) were significantly higher than those in the control group (0.19±0.01, 0.13±0.02, 0.14±0.04), with statistically significant differences ( t=7.05, 4.61, 5.93, P<0.05). Conclusion:EGFL7, FLT1, and TEK in EC may play crucial roles in the occurrence and invasion of VMs.

Objective:To evaluate the correlation between preoperative platelet function and in-hospital mortality in patients with acute Stanford A aortic dissection(ATAAD) undergoing emergency surgery.Methods:ATAAD emergency surgical patients who underwent preoperative thromboelastography(TEG) examination at three cardiovascular disease hospitals from January 2018 to December 2023 were consecutively selected in this study. The patients were divided into two groups according to whether the patient survived to discharge.Results:867 patients were included in this study. The in-hospital mortality was 11.2%(97 cases). Compared with the DG group(97 cases), the age, pericardial effusion volume, lactate concentration, and MA value of patients in the SG group(770 cases) were higher( P<0.001). Factors independently associated with in-hospital mortality were age(>60 years old), coronary hypoperfusion, pericardial effusion volume(>200.00 ml), and MA value(<60.6 mm). There was a correlation between MA value and in-hospital mortality( P=0.012), and the mediating effect between MA value and platelet count was not significant. Conclusion:There is a correlation between preoperative platelet function and in-hospital in ATAAD patients, and improving platelet function may be one of the important ways to improve the clinical prognosis of those patients.

Objective:To explore role of miR-146a in regulating TLR4/NF-κB pathway on inflammatory injury and neuropro-tection in intracerebral hemorrhage model rats and its possible mechanism.Methods:A total of 40 rats were selected and randomly divided into sham,model,over-expressing miR-146a adenovirus and negative virus injection groups,with 10 rats in each group.Garcia score was used for neurological function;HE staining was used to observe changes of brain tissues.ELISA was used to detect inflammatory factors levels.TLR4,NF-κB protein and gene expressions in brain tissues were detected by Western blot and RT-PCR.Results:Compared with model group,neural function score of overexpressed miR-146a adenovirus injection group was increased(P<0.05).Model group had abnormal cell morphology,edema and inflammation.Cell morphology,edema and inflammation were alleviated in overexpressed miR-146a adenovirus injection group.Inflammatory factors levels in model group were higher than sham group(P<0.05).Inflammatory factors levels in overexpressed miR-146a adenovirus injection group were lower than model group(P<0.05).TLR4,NF-κB protein and mRNA expressions in model group were increased than sham group(P<0.05).TLR4,NF-κB protein and mRNA expressions in overexpressed miR-146a adenovirus injection group were decreased than model group(P<0.05).Conclusion:miR-146a can improve neural function and reduce inflammatory injury in rats with intracerebral hemorrhage,possibly by inhibiting activation of TLR4/NF-κB signaling pathway and reducing inflammatory factors levels of brain tissues.

Objective To explore the effects of sodium oligomannate combined with high-frequency repetitive transcranial magnetic stimulation on the activity of daily living and intelligence level of patients with Alzheimer's disease.Methods A total of 100 patients with Alzheimer's disease admitted to Henan Provincial Staff Hospital from September 2021 to September 2023 were selected as the research subjects.These patients were divided into an observation group and a control group according to the random number table method,with 50 patients in each group.Patients in the control group were given high-frequency repetitive transcranial magnetic stimulation,and patients in the observation group were given sodium oligomannate combined with high-fre-quency repetitive transcranial magnetic stimulation.Enzyme-linked immunosorbent assay was used to detect the levels of amyloid β-protein(Aβ)142,tumor necrosis factor-a(TNF-a)and interleukin-6(IL-6)in patients of the two groups before and after treatment.Chemiluminescence was used to detect the levels of neurotransmitters in patients of the two groups before and after treatment.The mental symptoms of patients in the two groups before and after treatment were evaluated by the behavioral pathology in Alzheimer's disease rating scale,the intelligence level of patients in the two groups before and after treatment was evaluated by the mini-mental state examination(MMSE)scale and the Montreal cognitive assessment(MoCA)scale,the activity of daily living of patients in the two groups before and after treatment was evaluated by Alzheimer's disease cooperative study-activity of daily living(ADCS-ADL),and the quality of life of patients in the two groups before and after treatment was evaluated by the quality of life-Alzheimer's disease scale.Results Before treatment,the two groups showed no significant difference in the levels of Aβ1-42,TNF-α and IL-6(P＞0.05);after treatment,the levels of Aβ1-42,TNF-α and IL-6 in both groups were lower than those before treatment,and the levels of Aβ1-42,TNF-α and IL-6 in the observation group were lower than those in the control group(P＜0.05).Before treatment,there were no statistically significant differences in the levels of 5-hydroxytryptamine(5-HT),acetylcholine(ACh),γ-aminobutyric acid(GABA),and Alzheimer-associated neuronal thread protein(AD7c-NTP)between the two groups(P＞0.05);after treatment,the levels of 5-HT,ACh,and GABA in the two groups were higher than those before treatment,while the AD7c-NTP level was lower than that before treatment(P＜0.05);after treatment,the levels of 5-HT,ACh,and GABA in the observation group were higher than those in the control group,while the AD7c-NTP level was lower than that in the control group(P＜0.05).Before treatment,there were no significant differe-nces in the scores of paranoid and delusional ideas,hallucinations,behavioral disorders,aggressive behaviors,daily rhythm disorders,emotional disorders,anxiety and fear,and the total scores between the two groups(P＞0.05);after treatment,the scores of paranoid and delusional ideas,hallucinations,behavioral disorders,aggressive behaviors,daily rhythm disorders,emotional disorders,anxiety and fear,and the total scores of patients in the two groups were lower than those before treatment,and the scores of paranoid and delusional ideas,hallucinations,behavioral disorders,aggressive behaviors,daily rhythm disorders,emotional disorders,anxiety and fear,and the total scores of patients in the observation group were lower than those in the control group(P＜0.05).Before treatment,there were no significant differences in MMSE,MoCA and ADCS-ADL scores of patients between the two groups(P＞0.05);after treatment,the MMSE,MoCA and ADCS-ADL scores of patientsin the two groups were higher than those before treatment,and the MMSE,MoCA and ADCS-ADL scores of patientsin the observation group were higher than those in the control group(P＜0.05).Before treatment,there were no significant differences in the scores of physiological function,mental function,behavioral ability and interpersonal relationship,and the total scores of patients between the two groups(P＞0.05).After treatment,the scores of physiological function,mental function,behavioral ability and interpersonal relationship,and the total scores of patients in the two groups were higher than those before treatment,and the scores of physiological function,mental function,behavioral ability and interpersonal relationship,and the total scores of patients in the observation group were higher than those in the control group(P＜0.05).Conclusion Sodium oligomannate combined with high-frequency repetitive transcranial magnetic stimulation can improve the inflammatory state of patients with Alzheimer's disease,regulate neurotransmitter levels,alleviate psychiatric symptoms,enhance the intelligence level and the activity of daily living,and increase the quality of life.

OBJECTIVE: To explore the clinical and genetic characteristics of three children with KBG syndrome. METHODS: Clinical data of the three children from two families who have presented at the First Affiliated Hospital of Zhengzhou University between October 2019 and September 2020 and their family members were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing were carried out. RESULTS: All children had feeding difficulties, congenital heart defects and facial dysmorphism. The sib- pair from family 1 was found to harbor a novel de novo heterozygous c.6270delT (p.Q2091Rfs*84) variant of the ANKRD11 gene, whilst the child from family 2 was found to harbor a novel heterozygous c.6858delC (p.D2286Efs*51) variant of the ANKRD11 gene, which was inherited from his mother who had a mild clinical phenotype. CONCLUSION The heterozygous frameshift variants of the ANKRD11 gene probably underlay the disease in the three children. Above findings have enriched the spectrum of the ANKRD11 gene variants.
Female ; Child ; Humans ; Abnormalities, Multiple/genetics* ; Intellectual Disability/genetics* ; Bone Diseases, Developmental/genetics* ; Tooth Abnormalities/genetics* ; Facies ; Repressor Proteins/genetics* ; Mothers ; Mutation

Objective To investigate the prevalence of nosocomial infection among inpatients in a tertiary hospital， and provide scientific evidence for hospital infection control and targeted surveillance. Methods A cross-sectional survey was conducted to investigate a total of 543 hospitalized patients using the hospital information system. Results The prevalence of hospital-acquired infection （HAI） was 4.24%， and that of community-acquired infection （CAI） was 23.39%. HAI prevalence differed significantly among the departments （ χ ²=148.870， P <0.05）， and was highest in the department of intensive care medicine （72.73%）. Sites of infection were significantly different between HAI and CAI （ χ ²=22.942， P =0.011）； however， the most frequent site of infection was lower respiratory tract in both HAI and CAI. Major pathogens for nosocomial infection were Gram-negative bacteria （56.92%）， mainly Escherichia coli and Klebsiella pneumoniae . Antimicrobial usage was observed in 31.68% of the patients， principally for therapeutic use of antibacterial drugs （80.23%） and a combination of drugs （88.95%）. Examination rate of pathogens following the antimicrobial usage was 72.08%. Conclusion The investigation on the prevalence of nosocomial infection may facilitate fully understanding the nosocomial infection. It warrants strengthening the monitoring in the departments of intensive care medicine and on multi-resistant bacteria， and achieving antimicrobial stewardship， so as to improve the awareness of hospital infection control in medical staff' and effectively reduce the occurrence of nosocomial infection.

Objective     To evaluate the safety and efficacy of transcatheter aortic valve replacement (TAVR) using the SAPIEN 3 system. Methods    This was a prospective, multicenter, single arm study in 4 centers in China. The clinical data of 50 patients with high-risk symptomatic severe aortic stenosis who underwent TAVR using the SAPIEN 3 system from June 2017 to June 2019 were analyzed, including 27 males and 23 females aged 76.8±6.1 years. Results    The Society of Thoracic Surgeon score was 6.0%±2.8%. Totally, 20.0% of patients had severe bicuspid aortic stenosis. The operation time was 41.8±16.5 min and the hospital stay time was 8.5±5.0 d. At the postoperative 30-day follow-up, no all-cause mortality occurred and the device success rate was 89.5%. Major vascular complications occurred in one (2.0%) patient,  stroke in one (2.0%) patient, new pacemaker implantation in one (2.0%) patient, as well as coronary artery obstruction in one (2.0%) patient. There was no moderate or moderate/severe paravalvular leak. The aortic pressure gradient was decreased from 49.2±16.2 mm Hg before the operation to 12.4±4.6 mm Hg at the postoperative 30-day follow-up, and the valvular area was increased from 0.6±0.3 cm2 to 1.3±0.3 cm2 (P<0.01). Moreover, the New York Heart Association classification in 83.7% of the patients was improved during the follow-up. Conclusion    This pre-marketing multicenter study has demonstrated the safety and effectiveness of transfemoral TAVR with the SAPIEN 3 transcatheter valve system in Chinese aortic stenosis patients at high risk for surgery.