Objective:To summarize the clinical characteristics of 5 children with developmental epileptic encephalopathy type 17 (DEE17) caused by GNAO1 gene variants confirmed by whole-exome sequencing and analyze the features of their genetic variants. Methods:A retrospective analysis was conducted on the clinical data of 5 children diagnosed with GNAO1-related DEE17 in the Department of Neurology, Children′s Hospital of Soochow University from January 2019 to October 2024. Their clinical features, genetic testing results, neuroimaging findings, electroencephalogram (EEG) results, and treatment regimens were summarized. Follow-up was performed via telephone or outpatient visits. Results:Among the 5 diagnosed children (3 males, 2 females), the age of onset ranged from 2 days to 2 years, and the age at diagnosis ranged from 2 days to 6 years. Four children presented with seizures in the neonatal or infantile period, manifesting as hypotonia, developmental delay, and seizure types including generalized tonic-clonic, myoclonic, and epileptic spasms. One child had a later onset at 2 years, presenting with language delay, intellectual disability, and involuntary movements, followed by seizures at 6 years, including focal and generalized tonic-clonic seizures. Genetic testing revealed de novo heterozygous missense variants in GNAO1 in all 5 cases: c.119G>C (p.G40A), c.808A>C (p.N270H), c.808A>G (p.N270D), c.118G>C (p.G40R), and c.17G>T (p.S6I). Among these variants, c.119G>C and c.17G>T were previously unreported pathogenic variants. Neuroimaging showed nonspecific changes in 3 children (widened frontal-temporal subarachnoid space, delayed myelination) and abnormal white matter signals in 2 cases. Long-term video-EEG revealed abnormal discharges and background slowing in all cases: multifocal discharges in 4 cases and focal epileptiform discharges (left mid-temporal) in 1 case. Clinical seizures were captured in 3 cases: 1 with a burst-suppression pattern and 2 with hypsarrhythmia. All patients received 3 or more antiseizure medications. Four cases (cases 1-4) responded well to topiramate combination therapy, with 2 cases (cases 1, 2) achieving complete seizure freedom and 2 cases (cases 3, 4) experiencing more than a 50% reduction in seizures. One child (case 3) achieved seizure control with an adjunctive ketogenic diet. The late-onset case (case 5) required a combination of levetiracetam, oxcarbazepine, and valproate for seizure management. Conclusions:GNAO1 variants can lead to DEE17 with diverse seizure types, often requiring multiple antiseizure medications, among which topiramate is effective. Early-onset cases typically present with seizures and developmental delay, while late-onset cases may exhibit language delay, intellectual disability, movement disorders, and refractory epilepsy. Genetic testing should be performed early for timely diagnosis.

Objective To explore the protective effect of polydatin and its mechanism on secondary liver injury in silicosis rats based on network pharmacology and animal experiments. Methods i) Network pharmacology study. Based on multiple databases, the targets of polydatin effect related to silicosis and liver injury were collected, and the common targets of polydatin-silicosis-liver injury were screened to construct a protein-protein interaction network. Enrichment analyses were performed to identify core targets involved in the effects of polydatin on silicosis-associated secondary liver injury. The mechanism of action of polydatin in relieving silicosis and silicosis-associated secondary liver injury was investigated, in which polydatin served as molecular docking ligand. ii) Animal experimental validation. Specific pathogen free male SD rats were randomly divided into three groups, with 10 rats per group. Rats in the model and intervention groups received 1 mL of a silica suspension at a mass concentration of 50 g/L for modeling using a one-time non-tracheal exposure method. Then rats in the intervention group were injected intraperitoneally with polydatin solution at 30 mg/kg body weight, once daily starting from the first day after silica exposure, whereas rats in the control group received no treatment. Lung and liver histopathology of rats, which were randomly sacrificed on days 28 and 56 post-exposure in both groups, were examined. Biomarkers of liver injury and hepatic oxidative stress were measured, and hepatic expression of nuclear factor erythroid 2-related factor 2 (NRF2) related proteins was detected by Western blotting. Results i) Network pharmacology study results. A total of 137 polydatin-related targets, 14 812 silicosis-related targets, and 3 038 liver injury-related targets were identified, among which 69 were common targets and 28 were key targets. Gene Ontology analysis indicated that the key targets were involved in 1 883 pathways. Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis identified 137 pathways related to the targets. Molecular docking showed good binding affinities between polydatin and B-cell lymphoma 2 (BCL2), interleukin 6 (IL-6), tumor necrosis factor (TNF), and NRF2. ii) Animal experimental validation results. Compared with the control group, rats in the model group showed increased collagen deposition in both lung and liver tissues, with hepatic degeneration, necrosis, and inflammatory cell infiltration on days 28 and 56 after silica exposure. The collagen in lung and liver tissues of rats on days 28 and 56 after silica exposure increased in the model group compared with the control group (all P<0.05). Meanwhile, serum alanine aminotransferase and aspartate aminotransferase activities, hepatic lactate dehydrogenase 5 activities and NADPH: quinone oxidoreductase 1 (NQO1) expression in liver tissue increased (all P<0.05), whereas hepatic superoxide dismutase activity and NRF2 expression were decreased (all P<0.05). The level of malondialdehyde and the relative expression of heme oxygenase-1 (HO-1) protein in liver tissue in rat of model group were higher than those in the control group (all P<0.05). These alterations were ameliorated in rats of the intervention group compared with the model group (all P<0.05). Conclusion Polydatin exerts protective effects against secondary liver injury in rats with silicosis. These effects may be mediated by regulation of core targets such as BCL2, IL6, TNF, and NRF2, modulation of inflammatory pathways including TNF and IL17 signaling, and activation of the NRF2/HO-1 pathway, thereby exerting synergistic anti-inflammatory, antioxidant, and antifibrotic effects via the "lung-liver axis".

Objective To investigate the neurovascular coupling(NVC)status in the acute phase of patients with minor ischemic stroke(MIS)or transient ischemic attack(TIA)due to intracranial large artery moderate-to-severe stenosis or occlusion using multimodal MRI techniques and to explore its correlation with quality of life(QoL).Methods This prospective,consecutive study enrolled patients with MIS or TIA due to intracranial large artery moderate-to-severe stenosis or occlusion form the Department of Neurology,the First Affiliated Hospital of Xi'an Jiaotong University,between June 2022 and October 2023.Recruit healthy subjects with matched age,sex,and handedness form the community during the same period.Patients were divided into left-sided involvement and right-sided involvement groups based on the affected side of the responsible vessel,while the healthy subjects were set as the healthy control group.Post-hoc power analysis was performed using G*Power 3.1 software.General characteristics(age,gender,body mass index,education level)were collected and compared across all three groups.Clinical data and QoL assessment were collected and compared between the two patient groups.Collected clinical data including type of cerebrovascular events(TIA,MIS),the National Institutes of Health stroke scale(NIHSS)score at admission,the responsible vessel(internal carotid artery,middle cerebral artery)and its side location,the degree of responsibility artery stenosis(moderate-severe stenosis[50%-99%stenosis rate],occlusion[100%stenosis rate]),the intracranial collateral circulation status(American Society of Interventional and Therapeutic Neuroradiology/Society of Interventional Radiology[ASITN/SIR]collateral circulation grading),cerebrovascular risk factors(hypertension,diabetes,hyperlipidemia,smoking history),and the laboratory test indicators at admission(glycated hemoglobin,triglycerides,total cholesterol,high-density lipoprotein cholesterol,low-density lipoprotein cholesterol,blood uric acid,blood homocysteine).QoL was assessed using the stroke impact scale(SIS),covering eight functional domains and a patient-reported overall recovery item.Multimodal MR data were acquired for all subjects.Whole-brain cerebral blood flow(CBF)images were generated using statistics parameter mapping 12(SPM 12)software,while regional homogeneity(ReHo)images were generated using DPABI software.The voxel-wise ratio of CBF to ReHo(CBF/ReHo)was calculated as the regional NVC parameter.Differences in regional NVC characteristics were compared between patient groups and the healthy control group.Correlations between NVC parameters and SIS scores within patient groups were explored.Results(1)A total of 38 patients with MIS or TIA due to intracranial large artery moderate-to-severe stenosis or occlusion were included(26 males,12 females,aged 36-69 years,with mean age of[52±11]years),with 23 in the left-sided involvement group and 15 in the right-sided involvement group.Nineteen healthy subjects were included(10 males,9 females,aged 37-67 years,with mean age of[53±10]years).Post-hoc power analysis showed statistical power of 0.808 for comparing the left-sided involvement group with the healthy control group and 0.762 for comparing the right-sided involvement group with control group.(2)No statistically significant differences were found on gender,age,education level,or body mass index across the three groups(all P＞0.05).No statistically significant differences were observed on the type of cerebrovascular event,cerebrovascular risk factors,distribution of the responsible vessel,degree of stenosis in the responsible vessel,admission NIHSS score,or laboratory test results between the two patient groups(all P＞0.05).There were no statistically significant differences in the total SIS score and the scores of subscales between the two patient groups(all P＞0.05).(3)Compared with the healthy control group,the left-sided involvement group exhibited reduced CBF/ReHo values in the left superior and middle temporal gyri,supramarginal gyrus,middle and inferior frontal gyri,precentral gyrus,angular gyrus,postcentral gyrus,insula,and posterior cerebellar lobe(FDR-corrected,all P＜0.05).In the right-sided involvement group,reduced CBF/ReHo values were observed in the right supramarginal gyrus,right postcentral gyrus,inferior temporal gyrus,and insula(FDR-corrected,all P＜0.05).(4)Correlation analysis revealed that the SIS total score in the left-sided involvement group negatively correlated with CBF/ReHo values in the right inferior frontal gyrus(T=-5.91)and the right middle temporal gyrus(T=-6.65,FDR-corrected,both P＜0.05).The SIS subscale score for activities of daily living in the left-sided involvement group showed negative correlations with CBF/ReHo values in the right angular gyrus(T=-7.36),right medial superior frontal gyrus(T=-6.97),right orbitofrontal cortex(T=-8.99),and left thalamus(T=-7.51,FDR-corrected,all P＜0.05).No significant correlation was observed between the SIS total score and CBF/ReHo values in patients with right-sided involvement group.The SIS subscale for communication score in the right-sided involvement group correlated with CBF/ReHo in the left lingual gyrus(T=-12.15),left olfactory cortex(T=-7.68),and right anterior cingulate and paracingulate cortex(T=-9.46,FDR-corrected,all P＜0.05).Conclusions Patients with MIS or TIA due to intracranial large artery moderate-to-severe stenosis or occlusion show abnormal NVC in the acute phase,especially those with left hemisphere involvement,who exhibit more extensive impairments.QoL in left-sided involvement patients is strongly linked to NVC in the right orbitofrontal cortex and right middle temporal gyrus.These findings require further validation in larger-scale studies.

Objective:To assess the accuracy of preoperative enhanced CT in evaluating the degree of lymph node metastasis in gallbladder cancer.Methods:A retrospective analysis was performed on the enhanced CT imaging data of 124 gallbladder cancer patients who underwent surgical treatment at Henan Provincial People's Hospital from Jan 2017 to Dec 2018. Imaging staging was used to classify lymph node metastasis. Pathological and imaging data of 70 patients with confirmed postoperative lymph node pathology were compared to evaluate the accuracy of imaging methods in detecting lymph node involvement.Results:Lymph node metastasis in the 124 surgical patients was categorized into three groups using imaging evaluation methods. The overall accuracy of determining lymph node positivity and negativity was 63%, with a sensitivity of 64% and specificity of 62%. The accuracy of detecting lymph node metastasis in gallbladder cancer was higher when lymph node fusion and internal necrosis were observed. The overall survival rate differed significantly among gallbladder cancer patients at different lymph node imaging stages ( P<0.05). Conclusion:CT imaging evaluation has diagnostic value for lymph node metastasis in gallbladder cancer and has a certain predictive effect on the prognosis of patients.

Objective To understand the epidemiological characteristics of infection in recipients after heart trans-plantation,and provide references for the prevention and control of postoperative infections.Methods Clinical data of 259 heart transplant recipients in a hospital from April 2018 to December 2023 were collected for epidemiological analysis.Results Among 259 heart transplant patients,55 developed 68 episodes of infection during the first hospi-talization after surgery,the incidence of infection was 21.24％,and the case incidence of infection was 26.25％.The main infection sites were lower respiratory tract(n=30,44.12％),blood system(n=21,30.88％),and uri-nary system(n=8,11.76％).Sixty-eight episodes of infections occurred primarily within 10 days after surgery(n=37,54.41％),fo-llowed by within 11-20 days(n=14,20.59％).A total of 74 pathogens were detected from the infected site,mainly Gram-negative bacteria(n=37,50.00％),followed by fungi(n=19,25.68％),Gram-posi-tive bacteria(n=12,16.22％),viruses(n=6,8.11％).The multidrug-resistant rates of Klebsiella pneumoniae,Acinetobacter baumannii,Pseudomonas aeruginosa,and Enterococcus spp.were relatively high(57.1％-100％).During the period from discharge to one year after surgery,31 patients developed 39 episodes of infection,mainly lower respiratory tract infection(n=29,74.36％).Conclusion Heart transplant recipients have a high incidence of postoperative infection,with lower respiratory tract being the main infection site and with a high resistance rate of pathogen.The critical period for infection prevention and control is within 10 days after surgery.

Objective:To evaluate the efficacy and safety of Rituximab (RTX) combined with short-term use of glucocorticoids in the treatment of the initial episode of steroid-sensitive nephrotic syndrome (SSNS).Methods:A retrospective case summary.A total of 30 children with SSNS treated in the Department of Intrarenal Rheumatism and Immunology, Xuzhou Children′s Hospital from December 2021 to March 2023, were enrolled in this study.They were given a standard dose of RTX (375 mg/m 2) and glucocorticoids for a short term.The patients were followed up for 1 year, and the general condition, changes in CD19 + B lymphocytes expression after RTX treatment, the relapse rate, the median relapse-free survival and adverse reactions of RTX were recorded.Kaplan-Meier method was used to analyze the relapse-free survival time. Results:CD19 + B lymphocytes were depleted 2 weeks after RTX treatment, and the median time required for CD19 + B lymphocytes reconstitution was 5 months after RTX treatment.The 1-year relapse-free rate was 90.00%, and the median relapse-free survival was 11 months.The glucocorticoid discontinuation rate was 93.33% in 3 months after RTX treatment, and 100% in 6 and 12 months after RTX treatment.Adverse reactions included infusion reactions in 7 cases (23.33%), neutropenia/leukopenia in 5 cases (16.67%), hypoimmunoglobulinemia in 10 cases (33.33%), infections in 4 cases.One case was complicated with severe influenza A virus infection after CD19 + B lymphocytes reconstruction. Conclusions:A standard dose of RTX can significantly reduce the relapse frequency, maintain long-term remission of proteinuria, and reduce the dose of glucocorticoids in patients at the initial episode of SSNS.Thus, it is worthy of clinical promotion.

ObjectiveTo assess the efficiency of a Sophora flavescens Ait (S. flavescens, Ku Shen)-soluble microneedle (SFA-MN) for improving skin lesion symptoms in mice with psoriasis.MethodsSFA-MNs were prepared using a two-mold molding process with 20% w/v polyvinylpyrrolidone and 15% w/v polyvinyl alcohol. The SFA-MNs were assessed for morphology, mechanical properties, in vitro dissolution, identification of components, and skin lesion improvement in imiquimod-induced psoriasis mice.ResultsThe SFA-MNs demonstrated good mechanical properties for efficiently penetrating the dermis, facilitating efficient drug delivery. Furthermore, they effectively inhibited mast cell levels in the dorsal lesion area of psoriasis mice and reduced the expression of the T-lymphocyte factor cluster of differentiation 3 and tumor necrosis factor-α. In addition, this system alleviated skin inflammation, splenic swelling, and thymic atrophy in the psoriasis-like mouse model. Seven major components were detected from SFA-MNs by comparison of the mass-to-nucleus ratios (m/z) of the secondary fragments N-methylcytisine, 5α, 9α-dihydroxymatrine, sophoramine, matrine, oxysophocarpine, oxymatrine, and kushenol O.ConclusionThe drug delivery strategy combining traditional herbal S. flavescens with soluble microneedle technology provides more targeted and effective immune regulation for treating psoriasis-like mice models, enabling enhanced therapeutic effects compared with the control group.

Objective This study aimed to investigate the correlation of cerebral perfusion and cognitive function status in patients with minor stroke(MS)or transient ischemic attack(TIA)complicated by severe intracranial arterial stenosis or occlusion(hereafter referred to as ICAS-MSTIA).Methods Retrospectively enrol consecutive ICAS-MSTIA patients admitted to the Department of Neurology,the First Affiliated Hospital of Xi'an Jiaotong University,from June 2023 to May 2024.In the meantime,healthy controls were openly recruited.The ICAS-MSTIA patients were divided into two groups based on the side of intracranial large artery stenosis or occlusion:the left intracranial large artery involvement group and the right intracranial large artery involvement group.All patients with intracranial large artery stenosis or occlusion underwent MR scanning within 2 weeks after the first episode of TIA or MS,while there was no specific time requirement for MR examination in the healthy control group.On the day of MR scanning,the Montreal cognitive assessment(MoCA)scale was used to evaluate the participants'global cognitive function and performance in various cognitive domains,including visuospatial/executive function,naming,attention,language,abstraction,delayed recall,and orientation.General information of all participants was collected,including age,sex,educational level,body mass index,and history of smoking and alcohol consumption.Clinical data were collected from both left and right intracranial large artery involvement groups,including cerebrovascular risk factors(such as,diabetes mellitus,hypertension,and hyperlipidemia),National Institutes of Health stroke scale(NIHSS)score at admission,responsible stenotic or occluded arteries(internal carotid artery,middle cerebral artery),degree of stenosis in the responsible vessel(severe stenosis[stenosis rate 70%-99%],occlusion[stenosis rate100%])and non-responsible vessel(no stenosis[0],mild stenosis[stenosis rate＞0-49%]),collateral circulation compensation(American Society of Interventional and Therapeutic Neuroradiology/Society of Interventional Radiology[ASTIN/SIR]collateral circulation classification),and responsible events(TIA,MS).General data and MoCA scale scores were compared across the three groups,while clinical data were compared between the left and right intracranial large artery involvement groups.Statistical parametric mapping 12(SPM 12)was used to perform voxel-wise independent samples t-tests on cerebral blood flow(CBF)differences among the left ICAS-MSTIA group,right ICAS-MSTIA group,and healthy control group,with cluster-level family-wise error(FWE)correction applied for adjustment.Multiple linear regression analysis was conducted to evaluate the relationship between global CBF values and total MoCA scores in ICAS-MSTIA patients with left or right intracranial large artery involvement.Results A total of 33 ICAS-MSTIA patients and 33 healthy controls were enrolled in the study.Among the ICAS-MSTIA patients,21 had left intracranial large artery involvement and 12 had right involvement.(1)Among the three groups,statistically significant differences were observed in the proportions of individuals with reported smoking history(P=0.024)and alcohol consumption history(P=0.011).The left intracranial large artery involvement group had a higher NIHSS score(0[0,2]vs.0[0,0],P=0.044)and a higher proportion of patients with internal carotid artery involvement(13/21 cases vs.2/12 cases,P=0.027)compared with the right side group.No statistically significant differences were observed in other general or clinical data across the three groups or between the two non-control groups(all P＞0.05).(2)Statistically significant differences were found across the three groups in the MoCA scale total score and scores of visuospatial/executive function,attention,language,abstraction,delayed recall,and orientation cognitive domains(all P＜0.05),while no significant difference was noted in the naming score(P=0.063).The left intracranial large artery involvement group had lower total MoCA score and lower scores in visuospatial/executive function,attention,language,abstraction,delayed recall,and orientation in comparison to the healthy control group(all P＜0.016 7).The right intracranial large artery involvement group had significantly lower scores in language,abstraction,and orientation domains than the healthy control group(all P＜0.016 7).Additionally,the left side group had a lower attention domain score than the right side group(P＜0.016 7).No other statistically significant differences were found in pairwise comparisons(all P＞0.016 7).(3)Patients in both the left and right intracranial large artery involvement groups exhibited a significant decrease in CBF in extensive regions on the affected side,including the temporal lobe,dorsolateral prefrontal cortex,and occipital lobe.Furthermore,after correction,in the left involvement group CBF was higher in the contralateral lingual gyrus,cuneus,and calcarine sulcus compared with the healthy control group(P＜0.05).While in the right involvement group,no regions had increased CBF compared to the healthy control group.(4)Multiple linear regression showed positive correlation between CBF in ipsilateral precentral gyrus and superior temporal gyrus,and the total MoCA score in patients with left intracranial large artery involvement(FWE-corrected,P＜0.05).In contrast,there was no correlation between CBF and total MoCA score in patients with right intracranial large artery involvement.Conclusions ICAS-MSTIA patients exhibited various degrees of impairment in cerebral perfusion and cognitive function.A significant positive correlation is observed between these two impairments in patients with left intracranial large artery involvement.

Objective To understand the epidemiological characteristics of infection in recipients after heart trans-plantation,and provide references for the prevention and control of postoperative infections.Methods Clinical data of 259 heart transplant recipients in a hospital from April 2018 to December 2023 were collected for epidemiological analysis.Results Among 259 heart transplant patients,55 developed 68 episodes of infection during the first hospi-talization after surgery,the incidence of infection was 21.24％,and the case incidence of infection was 26.25％.The main infection sites were lower respiratory tract(n=30,44.12％),blood system(n=21,30.88％),and uri-nary system(n=8,11.76％).Sixty-eight episodes of infections occurred primarily within 10 days after surgery(n=37,54.41％),fo-llowed by within 11-20 days(n=14,20.59％).A total of 74 pathogens were detected from the infected site,mainly Gram-negative bacteria(n=37,50.00％),followed by fungi(n=19,25.68％),Gram-posi-tive bacteria(n=12,16.22％),viruses(n=6,8.11％).The multidrug-resistant rates of Klebsiella pneumoniae,Acinetobacter baumannii,Pseudomonas aeruginosa,and Enterococcus spp.were relatively high(57.1％-100％).During the period from discharge to one year after surgery,31 patients developed 39 episodes of infection,mainly lower respiratory tract infection(n=29,74.36％).Conclusion Heart transplant recipients have a high incidence of postoperative infection,with lower respiratory tract being the main infection site and with a high resistance rate of pathogen.The critical period for infection prevention and control is within 10 days after surgery.

Objective To analyze the application effect of multidisciplinary collaborative nursing based on the Information-Knowledge-Attitude-Practice(IKAP)theory in patients undergoing lobectomy via thoracoscopy.Methods A total of 168 patients undergoing lobectomy via thoracoscopy were se-lected,and randomly divided into control group and observation group using a random number table,with 84 patients in each group.The control group received routine nursing,while the observation group received multidisciplinary collaborative nursing based on the IKAP theory in addition to routine nurs-ing.The postoperative recovery,pulmonary function indicators[forced vital capacity(FVC),maxi-mum voluntary ventilation(MVV)and ratio of forced expiratory volume in the first second to forced vi-tal capacity(FEV1/FVC)],self-efficacy[General Self-Efficacy Scale(GSES)score]and self-man-agement ability[Chronic Disease Self-Management Questionnaire(CDSMQ)score]before and after intervention were observed and compared between the two groups.Results The observation group had shorter first ambulation time,first flatus time and length of hospital stay compared with the control group(P＜0.05).Before intervention,there were no statistically significant differences in FVC,MVV,FEV1/FVC,CDSMQ scores and GSES scores between the two groups(P＞0.05).After inter-vention,the observation group had higher FVC,MVV,FEV1/FVC,CDSMQ scores and GSES scores compared with the control group(P＜0.05).Conclusion Multidisciplinary collaborative nursing based on the IKAP theory can effectively promote the recovery process in patients undergoing lobec-tomy via thoracoscopy,improve postoperative pulmonary function,self-management ability,and self-efficacy,thereby enhancing the quality of rehabilitation.