Objective To constructed a predictive model of gastric adenocarcinoma prognosis-related proteins by using TCPA and UCSC Xena databases to obtain sample information.And its application value was tested in order to provide reference for clinical treatment and related mechanism research.Methods Using R project,univariate Cox analysis and LASSO-Cox regression analysis were used to select the proteins related to the prognosis of gastric adenocarcinoma,and the risk scores were calculated.According to the risk scores,the patients were divided into high risk group and low risk group for survival analysis.At the same time,draw the ROC curve of the risk score and the protein heat map to evaluate the predictive ability of these proteins.Then,risk scores were combined with other clinical phenotype data of the patients,in order to establish a prognostic model through multivariate regression analysis,and draw a nomogram.The accuracy of the prognostic model was evaluated by C-index,ROC curve and decision curve.GO enrichment analysis and KEGG enrichment analysis were carried out to explore the proteins involved in biological processes.Results Fifteen differential proteins(CKIT,CHK1,CLAUDIN7,COLLAGENVI,DVL3,EGFR_pY1173,ERALPHA_pS11,NFKBP65_pS536,SYK,ETS1,MYOSINIIA_pS1943,P21,P90RSK,RAPTOR,XBP1)were selected by univariate Cox analysis and LASSO-Cox analysis,for calculating the protein risk scores.Through multivariate regression analysis,five factors including age,gender,M stage,N stage and risk score were selected to construct a prognostic model.The results of survival analysis showed that there were significant differences in overall survival between high and low risk groups(P＜0.0001).The nomogram can be used to predict 3-year and 5-year survival rate of patients,and it is considered to have good predictive value(C-index=0.7257).The ROC curve showed that the model exhibited stable sensitivity and specificity in prediction(AUC=0.79 and 0.88).Conclusion The prognostic model of gastric adenocarcinoma prognosis-related proteins can be used to predict the clinical prognosis of patients,and the research results will help to further guide clinical treatment,which could provide a reference for personalized treatment and management.

Objective:To investigate the clinical manifestation, therapy, and prognosis of Susac syndrome and enhance the understanding of this disease.Methods:A case summary was made.The clinical data of two siblings with Susac syndrome treated at Children′s Medical Center, Peking University First Hospital in January 2024 were summarized.Reported cases of pediatric Susac syndrome were reviewed.Results:The onset of the disease in the two siblings was at the age of 3.00 and 6.75 years, with recurrent headaches, tinnitus, hearing loss and encephalopathy symptoms.Cranial magnetic resonance imaging showed multiple cerebral microbleeding and microinfarction lesions, " snowball like" in the corpus callosum and diffuse white matter edema in the brain.Audiometry revealed sensorineural hearing loss.In one case, ophthalmic fluorescein angiography revealed ischemic changes due to branch retinal artery occlusions.No pathogenic variants were detected in gene testing.This child was diagnosed with Susac syndrome, and the symptoms were improved after treatment with Corticosteroids and Rituximab.No relapse was observed during the 9-month follow-up.A total of 20 pediatric cases of Susac syndrome were retrieved, including 18 reported previously and 2 cases from this study.There were 2 boys and 18 girls, with the age of onset ranging from 2.5 to 17.0 years.The common initial symptoms included headache (19 cases), vertigo and tinnitus or hearing loss (9 cases), and vision impairment or visual field defect (4 cases). The symptoms were improved after immunotherapy.Conclusions:With a low incidence, Susac syndrome is rare in children and difficult to diagnose.There may be a genetic predisposition in such disease.Early diagnosis and immunotherapy can low the relapse and improve the prognosis.

Objective To explore the differences in the radiological features,clinical,and laboratory indicators of frequent versus infrequent gout flares in the feet and ankles using dual-energy computed tomography(DECT).Methods A retrospective selection was made on 385 gout patients,who were divided into the frequent flare group(≥2 gout attacks per year,219 cases)and the infre-quent flare group(<2 gout attacks per year,166 cases).Clinical data,laboratory indicators,and DECT imaging findings were col-lected for statistical analysis.Binary logistic regression was used to analyze the independent risk factors for frequent gout flares and receiver operating characteristic(ROC)curve was plotted.Results Statistically significant differences were found between the fre-quent flare group and the infrequent flare group in terms of disease duration,body mass index(BMI),blood pressure,triglyceride(TG),serum uric acid(SUA),monosodium urate(MSU)crystal deposition,total volume of MSU crystals,maximum diameter of individ-ual tophi,number of affected joints,bone erosion,maximum depth of bone erosion,soft tissue swelling,bone proliferation and sclero-sis,and joint space narrowing(P<0.05).SUA levels,MSU crystal deposition,total volume of MSU crystals,and maximum depth of bone erosion were identified as independent risk factors for frequent gout(P<0.05).Both the combination of four factors model and the maximum depth of bone erosion model had better diagnostic efficacy.Conclusion Gout patients with high SUA levels,MSU crystal deposition,larger total volume of MSU crystals,and greater maximum depth of bone erosion are more likely to experience frequent gout attacks.Patients with bone erosion depth>3.200 mm are more likely identified early as having frequent gout.

Objective To analyze the involvement of pharmacists in the pharmaceutical care of olfacatumumab in the treatment of elderly patients with refractory anti-metabotropic glutamate receptor 5(mGluR5)encephalitis and to provide a reference for the treatment and pharmaceutical care of patients with refractory autoimmune encephalitis(AE).Methods An 81-year-old patient with anti-mGluR5 encephalitis who had poor first-line immunotherapy effect.The key points of pharmaceutical care were determined according to the patient's condition and the characteristics of therapeutic drugs.The drug selection,administration mode,drug interaction,adverse reactions,and precautions of ofatumumab were put forward.At the same time,the patients and their families were given medication guidance and discharge education,and regular follow-up was carried out.Results With the cooperation of doctors,the patient was provided with whole-process pharmaceutical care,and the patient's condition was improved,and the patient's condition was good so far.Conclusion Clinical pharmacists pay attention to the effectiveness and safety of the treatment with ofatumumab by carrying out individualized pharmaceutical care for this patient,which fully reflects the value of clinical pharmacists and provides a reference for the treatment and pharmaceutical care of refractory AE patients.

Objective To establish a rat model of venous thrombosis in a plateau hypobaric hypoxic environment and to investigate the effect of this environment on venous thrombosis.Methods A total of 144 healthy male SD rats were assigned randomly to four groups(n=36 rats per group):a plains sham operation(A)group,plains operation(B)group,plateau altitude 6000 m+sham operation(C)group,and plateau altitude 6000 m+surgery(D)group.Rats in A and B groups were maintained in a plains normoxic environment,while rats in C and D groups C and D were subjected to a plateau environment.Rats in the surgical groups underwent quantitative constriction to incompletely obstruct the inferior vena cava blood flow.Each group was further divided into subgroups based on time:1,3,5,7,14,and 21 d(n=6 rats per group).Regular vascular ultrasound monitoring was conducted,and blood samples were taken for whole blood viscosity testing and the assessment of inflammatory indicators,including endothelin-1(ET-1),interleukin-6(IL-6)and tissue factor(TF).Coagulation function was evaluated through the activated partial thromboplastin time(APTT),prothrombin time(PT),thrombin time(TT),fibrinogen(FIB)and D-dimer.After the observation period,the experimental animals were sacrificed and the limbs were removed.Thrombus samples were stained with hematoxylin/eosin(HE),and the thrombus wet mass was measured.Results The thrombosis incidence was significantly higher in the plateau D group than in B group,accompanied by a marked increase in blood viscosity and hematocrit(P＜0.01).Additionally,levels of ET-1,IL-6,and TF were significantly elevated(P＜0.05),indicating a coagulation disorder.Conclusions A plateau hypoxic environment model can be successfully simulated by quantitative coarctation of the inferior vena cava,combined with a specialized environmental chamber.The findings of this study suggest that a plateau hypoxic environment promotes venous thrombosis.

Objective To analyze the interspecies differences in virulence of different carbapenem-resistant Enterobacterales(CREb)strains and provide a theoretical basis for understanding the pathogenic mechanisms of CREb and for guiding individualized treatment strategies.Methods A total of nine CREb clinical isolates collected between 2013 and 2022 were included,representing five species:Enterobacter cloacae(E.cloacae),Enterobacter hormaechei(E.hormaechei),Enterobacter kobei(E.kobei),Enterobacter asburiae(E.asburiae),and Enterobacter chuandaensis(E.chuandaensis).Whole-genome sequencing was performed to characterize virulence gene profiles.Phenotypic assays included growth curve analysis,biofilm formation assessment,serum bactericidal assays,and Galleria mellonella infection models to evaluate virulence-related traits.Results Virulence gene analysis revealed that motility-related factors were the most abundant(16 to 20 per strain),followed by nutrition/metabolism-related factors(10 to 12 per strain),while invasion-related genes were rare,with the ibeB gene detected in only two E.asburiae strains.The strains of the same species shared similar viru-lence gene profiles,and E.chuandaensis harbored the fewest virulence genes.In vitro growth assays showed that E.hormaechei and E.cloacae had the fastest growth rates,while E.chuandaensis and E.kobei exhibited slower growth,and E.asburiae displayed the slo-west growth.Biofilm assays indicated that E.hormaechei and E.cloacae had the strongest biofilm-forming capacity,while E.kobei had the weakest.In serum bactericidal assays,E.hormaechei and E.cloacae showed high survival rates(＞70%),whereas the survival rate of E.chuandaensis was less than 1%.In the Galleria mellonella model,E.asburiae and E.cloacae exhibited marked dose-dependent virulence,whereas the remaining strains showed reduced virulence.Conclusion Different CREb species exhibit significant variation in virulence gene content and phenotypic traits.The pathogenic potential of CREb may provide fundamental data to inform strategies for prevention and treatment of CREb infection.

OBJECTIVE: To analyze the clinical characteristics and genotypic changes of six children with RARS2 gene variants. METHODS: The clinical data of 6 children with RARS2 gene variants diagnosed at the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2024 were collected. Genetic variants were detected using trio-whole exome sequencing. Genomic DNA was extracted from samples and subjected to high-throughput sequencing. Variants were detected and analyzed using relevant databases and software. Pathogenic variants were validated by Sanger sequencing. The protein structure encoded by a previously unreported variant was predicted using a SWISS-MODEL online server. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-373-01). RESULTS: Among the six children, four were males and two were females, with the most recent follow-up age ranging from 1-year-and-1-month to 7 years old. The age of onset was under 1 year in all cases. All six children exhibited seizures, including infantile spasms in three, spasms and tonic spasms in one, and focal seizures in two. One child became seizure-free for 4 ~ 5 years following Valproic acid combined with topiramate and adrenocorticotropic hormone (ACTH) pulse therapy, but subsequently experienced a relapse. Another child has remained seizure-free for nearly one year with oral sodium valproate, levetiracetam, and a "cocktail" therapy. Seizures were not controlled in the remaining four children. Pontocerebellar hypoplasia was observed on neuroimaging in two children. All six patients exhibited severe psychomotor retardation. A total of 10 RARS2 gene variants were identified, three of which were previously unreported. CONCLUSION The predominant clinical features of Pontocerebellar hypoplasia associated with RARS2 gene variants include infantile onset, severe psychomotor retardation or regression, drug-resistant epilepsy, and feeding difficulties. The characteristic neuroimaging finding is pontocerebellar hypoplasia. However, its appearance may vary widely with time. The majority of affected children have a poor prognosis.
Humans ; Male ; Female ; Child, Preschool ; Infant ; Child ; Olivopontocerebellar Atrophies/genetics* ; Arginine-tRNA Ligase/genetics* ; Mutation ; Cerebellar Diseases

Objective:To observe the hemodynamic changes in the retina and choroid after scleral buckling surgery in eyes with rhegmatogenous retinal detachment (RRD).Methods:A prospective clinical observational study. A total of 25 eyes of 25 patients with RRD who underwent scleral buckling surgery in Tianjin Eye Hospital from February to April 2024 were included in the study. Among them, 10 were male and 15 were female. Age was 17-68 years old. All cases were monocular. The surgical eye and the contralateral healthy eye were divided into the affected eye group and the contralateral healthy eye group respectively. Best corrected visual acuity (BCVA), scanning source optical coherence tomography angiography (SS-OCTA), and axial length (AL) measurements were performed 3 months after surgery. SS-OCTA examination of macular area was performed by VG200 of Visual Microimaging (Henan) Technology Co., LTD. Scanning range 21 mm×26 mm. According to the partitioning method of the early treatment group of glycosuria retinopathy, the retina within 21 mm of the macular fovea was divided into concentric circles with the macular fovea as the center and diameters of 1-3, 3-6, 6-12, 12-21 mm, respectively. The built-in software of the device was used to record the central area (12 mm×12 mm in the fovea of the macula) and the peripheral area (12-21 mm range) retinal superficial capillary plexus (SCP), deep capillary plexus (DCP), radial peripapillary capillaries (RPC) blood density and choroidal vascular index (CVI), choroidal vascular volume (CVV), and 1-3, 3-6, 6-12, 12-21 mm above concentric circles (S), nasal side (N), temporal side (T), and lower side (I) SCP, DCP, and RPC blood flow density. Quantitative data between the two groups were compared by independent sample t test or Wilcoxon signed rank test. The correlation between retinal and choroid blood flow parameters and postoperative BCVA was analyzed by Spearman correlation analysis. Results:Compared with the opposite healthy eye group, SCP blood density in the central area ( Z=-4.372), DCP blood density in the central area ( Z=-2.829), and CVI in the peripheral area ( Z=-2.138) were decreased in the affected eye group, and the differences were statistically significant ( P<0.05). SCP: in the affected eye group, the blood flow density in T 3-6 mm, T 6-12 mm, N 6-12 mm and T 12-21 mm regions decreased, while the blood flow density in I 6-12 mm regions increased, with statistical significance ( P<0.05). DCP: blood flow density in S 6-12 mm, I 6-12 mm, S 12-21 mm and I 12-21 mm regions decreased significantly, and the differences were statistically significant ( P<0.05). RPC: blood flow density decreased significantly in T 6-12 mm and I 12-21 mm, and the differences were statistically significant ( P<0.05). CVI: T 6-12 mm, S 12-21 mm, T 12-21 mm, I 12-21 mm significantly decreased, and T 1-3 mm, S 12-21 mm significantly increased, the differences were statistically significant ( P<0.05). Correlation analysis showed that AL growth was positively correlated with CVV in central region ( r=0.408, P=0.040). The number of pad pressure was negatively correlated with the blood density of central DCP ( r=-0.422, P=0.030). Conclusions:After scleral buckling operation, the blood flow density and choroidal blood flow parameters in RRD affected eyes are lower than those in contralateral healthy eyes in some areas. The increase of AL is positively correlated with CVV in the central region, and the wider the range of pad pressure, the worse the recovery of DCP blood density.

Objective To constructed a predictive model of gastric adenocarcinoma prognosis-related proteins by using TCPA and UCSC Xena databases to obtain sample information.And its application value was tested in order to provide reference for clinical treatment and related mechanism research.Methods Using R project,univariate Cox analysis and LASSO-Cox regression analysis were used to select the proteins related to the prognosis of gastric adenocarcinoma,and the risk scores were calculated.According to the risk scores,the patients were divided into high risk group and low risk group for survival analysis.At the same time,draw the ROC curve of the risk score and the protein heat map to evaluate the predictive ability of these proteins.Then,risk scores were combined with other clinical phenotype data of the patients,in order to establish a prognostic model through multivariate regression analysis,and draw a nomogram.The accuracy of the prognostic model was evaluated by C-index,ROC curve and decision curve.GO enrichment analysis and KEGG enrichment analysis were carried out to explore the proteins involved in biological processes.Results Fifteen differential proteins(CKIT,CHK1,CLAUDIN7,COLLAGENVI,DVL3,EGFR_pY1173,ERALPHA_pS11,NFKBP65_pS536,SYK,ETS1,MYOSINIIA_pS1943,P21,P90RSK,RAPTOR,XBP1)were selected by univariate Cox analysis and LASSO-Cox analysis,for calculating the protein risk scores.Through multivariate regression analysis,five factors including age,gender,M stage,N stage and risk score were selected to construct a prognostic model.The results of survival analysis showed that there were significant differences in overall survival between high and low risk groups(P＜0.0001).The nomogram can be used to predict 3-year and 5-year survival rate of patients,and it is considered to have good predictive value(C-index=0.7257).The ROC curve showed that the model exhibited stable sensitivity and specificity in prediction(AUC=0.79 and 0.88).Conclusion The prognostic model of gastric adenocarcinoma prognosis-related proteins can be used to predict the clinical prognosis of patients,and the research results will help to further guide clinical treatment,which could provide a reference for personalized treatment and management.