This case report presents a 16-year-old male patient with deficiency of adenosine deaminase 2(DADA2). The patient had a history of Raynaud′s phenomenon with digital ulcers since childhood. As the disease progressed, the patient developed retinal vasculitis, intracranial hemorrhage, skin necrosis, severe malnutrition, refractory hypertension, and gastrointestinal bleeding. Genetic testing revealed compound heterozygous mutations in the ADA2 gene (paternal c.1072G > A pathogenic mutation + maternal c.1065C > A variant of unknown clinical significance). ADA2 enzyme activity was significantly reduced (0.1 U/L). A multidisciplinary treatment team developed an individualized plan to address key issues, including nutritional support, blood pressure control, rehabilitation, pain management, and balancing anticoagulation/bleeding risks. After systematic intervention, the patient′s condition showed partial improvement. This case reveals clinical challenges such as anticoagulation decisions and nutritional support of DADA2. It also emphasizes the importance of early molecular diagnosis, tumor necrosis factor-α inhibitor targeted therapy, and multidisciplinary collaboration in management, underlining the core value of precision medicine in rare disease management.

Objective To investigate the value of computer-assisted quantification of pulmonary embolism volume(PEV)in identifying mild-to-high-risk acute pulmonary embolism(APE).Methods We retrospectively enrolled 143 patients with suspected APE confirmed by computed tomography pulmonary angiography(CTPA)at Yan'an University Affiliated Hospital from January 2017 to December 2020.According to the 2018 Chinese Guidelines for Diagnosis,Treatment and Prevention of Pulmonary Thromboembolism,all the patients were divided into low-risk group(n=88)and mild-to-high-risk group(n=55).We collected the patients'basic demographic data,clinical manifestations,and serum levels of N-terminal-B type natriuretic peptide precursor(NT-proBNP)and D-dimer.Based on CTPA images,the degree of pulmonary thromboembolism was artificially evaluated to obtain the pulmonary artery occlusion index(PAOI).The thrombus was segmented using the pulmonary embolism detection tool based on digital lung,and PEV was calculated.We compared the differences in clinical and laboratory indicators and PAOI and PEV between the two risk groups.We analyzed the value of PAOI and PEV in identifying mild-to-high-risk APE using receiver operating characteristic(ROC)curves,and used Logistic regression analysis to identify independent risk factors in predicting mild-to-high-risk APE.Different models were established.Results Compared with the low-risk group,APE patients in the mild-to-high-risk group were older(P＜0.05),had lower diastolic blood pressure(P＜0.05),higher levels of D-dimer and NT-proBNP(P＜0.05),lower levels of platelet count,arterial oxygen partial pressure and arterial carbon dioxide partial pressure(P＜0.05),and higher levels of PAOI and PEV(P＜0.001).ROC curve analysis showed that the area under the curve for PEV in identifying mild-to-high-risk APE was 0.809(95％CI:0.734-0.884),while that for PAOI was 0.753(95％CI:0.667-0.839).Logistic regression analysis showed that PEV and NT-proBNP were independent risk factors for mild-to-high-risk APE(P＜0.05).Conclusion PEV and NT-proBNP are independent risk factors for mild-to-high-risk APE.

Background::Pulmonary embolism (PE) is a severe and acute cardiovascular syndrome with high mortality among patients with autoimmune inflammatory rheumatic diseases (AIIRDs). Accurate prediction and timely intervention play a pivotal role in enhancing survival rates. However, there is a notable scarcity of practical early prediction and risk assessment systems of PE in patients with AIIRD.Methods::In the training cohort, 60 AIIRD with PE cases and 180 age-, gender-, and disease-matched AIIRD non-PE cases were identified from 7254 AIIRD cases in Tongji Hospital from 2014 to 2022. Univariable logistic regression (LR) and least absolute shrinkage and selection operator (LASSO) were used to select the clinical features for further training with machine learning (ML) methods, including random forest (RF), support vector machines (SVM), neural network (NN), logistic regression (LR), gradient boosted decision tree (GBDT), classification and regression trees (CART), and C5.0 models. The performances of these models were subsequently validated using a multicenter validation cohort.Results::In the training cohort, 24 and 13 clinical features were selected by univariable LR and LASSO strategies, respectively. The five ML models (RF, SVM, NN, LR, and GBDT) showed promising performances, with an area under the receiver operating characteristic (ROC) curve (AUC) of 0.962-1.000 in the training cohort and 0.969-0.999 in the validation cohort. CART and C5.0 models achieved AUCs of 0.850 and 0.932, respectively, in the training cohort. Using D-dimer as a pre-screening index, the refined C5.0 model achieved an AUC exceeding 0.948 in the training cohort and an AUC above 0.925 in the validation cohort. These results markedly outperformed the use of D-dimer levels alone.Conclusion::ML-based models are proven to be precise for predicting the onset of PE in patients with AIIRD exhibiting clinical suspicion of PE.Trial Registration::Chictr.org.cn: ChiCTR2200059599.

Objective:To analyze the status quo, hotspots and fronts of emergency nursing training research at home and abroad in the past ten years, and to provide reference and ideas for the efficient development of emergency nursing training in China.Methods:CiteSpace 6.2.R2 software was used to visually analyze the Chinese and English literatures on emergency nursing training included in CNKI and Web of Science core databases from January 1, 2013 to June 1, 2023.Results:A total of 1 177 Chinese literatures and 1 163 English literatures were included. The number of foreign articles in this field increased year by year, while the number of domestic articles showed a downward trend since 2018. There were many stable core author groups and core institution groups in foreign countries, while there was less cooperation among domestic authors and institutions. The common research hotspots and frontiers at home and abroad focused on broadening the training audience of emergency nursing, innovating the training methods of emergency nursing, strengthening the evaluation of the effect of emergency nursing training, and paying attention to the training experience and needs of nurses. Foreign researches also focused on specialized nurses, interprofessional education and nurses′mental health, etc, and the research direction was diversified.Conclusions:The development stages of emergency nursing training researches at home and abroad are different, and the research hotspots are different. In the future, we should learn from foreign research, strengthen interdisciplinary cooperation, improve the depth and breadth of research, and strengthen the cooperation between authors, institutions and countries to promote the high-quality development of emergency nursing training research in China.

Objective:To explore forecast indicators for the prognosis of sepsis in adult extremely severe burn patients.Methods:Case data of adults with extremely severe burns combined with sepsis admitted to the Second Affiliated Hospital of Zhejiang University School of Medicine from January 2017 to December 2021 were retrospectively collected. According to the prognosis, all patients were divided into a death group and a survival group. The general conditions of the two groups were compared. The clinical symptoms, vital signs, platelet count (PLT), white blood cell count (WBC), neutrophil ratio, procalcitonin (PCT), blood sodium, blood glucose, hemoglobin and albumin levels at diagnosis of sepsis were also compared between the two groups. The independent sample t test, Mann?Whitney U test, or Fisher's exact probability test was used for group comparison. Variables with statistical significance in univariate analysis were included in the Cox regression model for multivariate analysis to assess the effect of each index on the outcome of extremely severe burn patients with sepsis. The predictive value of each index for sepsis outcome was analyzed by the receiver operating characteristic curve (ROC). Results:A total of 60 patients with particularly severe burn sepsis were selected, including 41 males and 19 females aged 18 to 84 years. The diagnosis time of sepsis was 14 (7, 24) days after injury. There were 29 patients in the death group and 31 patients in the survival group, and the mortality rate was 48.3%. Compared with the survival group, PLT and hemoglobin levels in the death group decreased significantly (both P<0.05), and PCT and blood sodium levels increased significantly (both P<0.05), while the other indicators did not change significantly (all P>0.05). The results of multivariate Cox regression analysis showed that hemoglobin ( HR=0.936, 95% CI: 0.935-0.991) and serum sodium levels ( HR=1.031, 95% CI: 1.010-1.052) at the time of sepsis diagnosis were independent risk factors affecting the prognosis of sepsis in extra-severe burn patients (both P<0.05). ROC curve analysis showed that the AUCs of hemoglobin, blood sodium and PCT for predicting the prognosis of extremely severe burn patients with sepsis were 0.747, 0.811 and 0.690, respectively (all P<0.05). The cut-off value of hemoglobin for predicting prognosis was 77 g/L, with a sensitivity of 69.0% and specificity of 74.2%. The cut-off value of blood sodium for predicting prognosis was 138 mmol/L, with a sensitivity of 89.7% and specificity of 61.3%. The cut-off value of PCT was 3.51 μg/L, with a sensitivity of 65.5% and specificity of 74.2%. Conclusions:Hemoglobin, blood sodium and PCT may be predictors of outcome in extremely severe burn patients with sepsis.

[摘 要] 目的：探讨肝细胞癌（HCC）患者血清及癌组织中miR-203a和其靶基因的表达及其与患者临床病理特征和预后的关系。方法：利用生物信息学方法从TargetScan、miRDB和PicTar网站预测HCC组织中miR-203a的靶基因，通过双荧光素酶报告基因实验进行验证。选取2018年1月至2019年6月在常州市金坛区第二人民医院手术切除的96例HCC患者的癌和癌旁组织标本、血清和临床资料，以及90例健康体检者的血清作为对照。qPCR法检测血清miR-203a水平，以及HCC组织和癌旁组织中miR-203a及其靶基因表达，比较分析不同临床病理特征HCC患者miR-203a及其靶基因表达。随访3年，采用Kaplan-Meier法进行生存（OS）分析。结果：从数据库筛选出HCC中miR-203a相关的靶基因共10个，包括APC、CDK6、GATA6、HOXD3、IGF1R、IGFBP5、KCNE2、PAQR3、PRMT5和SOSC3。HCC组织中miR-203a和APC、PAQR3 mRNA表达水平均显著低于癌旁组织（均P<0.01），CDK6、GATA6、HOXD3、IGF1R、IGFBP5、KCNE2、PRMT5和SOSC3 mRNA表达水平均显著高于癌旁组织（均P<0.01）；血清miR-203a、HCC组织miR-203a及其靶基因表达均与患者肿瘤临床分期、分化程度、肝功能分级、OS率有关（均P<0.01）。结论：HCC组织中miR-203a呈低表达，miR-203a及靶基因表达均与患者肿瘤临床分期、分化程度、肝功能及远期OS率有关。

Objective:To analyze the molecular characteristics of Echovirus 11 (Echo11) strains isolated in Xiangyang, Hubei Province from 2016 to 2017 based on the sequences of VP1 gene.Methods:Rectal and throat swab specimens were collected from children with hand, foot and mouth disease (HFMD) in Xiangyang from 2016 to 2017. Echo11 strains were detected by real-time reverse transcriptase PCR (RT-PCR) and isolated after cultured in human rhabdosarcoma (RD) cells. The VP1 regions of Echo11 strains isolated from RD cells and the whole genomes of three representative Echo11 strains were amplified by conventional RT-PCR and the sequences were analyzed. DNAStar7.0 (MegAlign) and MEGA6.0 (Data) were used to analyze the homology and mutation sites in nucleotide and amino acid sequences. Neighbor-joining method was used to construct phylogenetic trees. Recombination analysis was performed with SimPlot software (BootScanning).Results:A total of 11 Echo11 strains were isolated from 3 494 HFMD cases, accounting for 0.31%. They were highly homologous in the VP1 gene. These strains shared 98.4%-100.0% homology in nucleotide sequences and 98.3%-100.0% homology in amino acid sequences. The homology between the 11 Echo11 strains and the prototype strain (Echo11/Gregory, X80059) was 73.9%-74.8% in nucleotide sequences and 87.7%-88.7% in amino acid sequences. All of the Echo11 strains circulating in Xiangyang were classified into lineage D, having a similarity to the strains circulating in some regions of mainland China since 2013. In multiple regions of the genome, the Echo11 strains isolated in Xiangyang were highly similar to the Henan Echo1 strains in 2010 and the Hubei Echo6 strains in 2015, suggesting there was recombination within the genome of Echo11 strains in Xiangyang.Conclusions:The Echo11 strains circulating in Xiangyang from 2016 to 2017 belonged to lineage D and were recombinant strains.

Objective:To analyze the weight score and clinical application of 2019 European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) systemic lupus erythematosus (SLE) classification criteria in lupus nephritis patients.Methods:Lupus nephritis patients with renal biopsy results who were admitted in the First Affiliated Hospital of Zhejiang University College of Medicine between January 2014 and December 2018 were enrolled retrospectively. According to whether these patients were treated with glucocorticoids and/or immunosuppressants at the time of renal biopsy, they were divided into untreated group and post-treatment group. The weight scores were compared between the two groups, and the relationship between each weight score and remission after treatment was analyzed. Taking no remission as the end event, Cox regression analysis was used to analyze the influence of each weighted integral on the end event.Results:A total of 153 patients were enrolled, including 131 (85.6%) females. These were 70 (45.8%) patients in the untreated group and 83 (54.2%) patients in the post-treatment group. The patients in the untreated group had higher scores of fever (>38.3℃), blood system involvement, low complement and positive specific antibodies than those in post-treated group (all P<0.05). In a median follow-up of 34 (6-50) months, 99 patients (64.7%) achieved complete remission, 38 patients (24.8%) achieved partial remission and 16 patients (10.5%) had no remission. With no remission as the endpoint event, univariate Cox regression analysis showed that proliferative lupus nephritis (renal score of 10 points vs 8 points) and neuropsychiatric involvement were the risk factors (both P<0.05), while multivariate Cox regression analysis showed that neuropsychiatric involvement ( HR=4.758, 95% CI 1.324-17.101, P=0.017) was an independent risk factor. Conclusion:The weight scores of 2019 EULAR/ACR SLE classification diagnostic criteria have certain predictive value for remission of patients with lupus nephritis.

Objective To understand the influencing factors of stroke symptoms in middle-aged and elderly patients with hypertension in the community, and to provide reference for the prevention and control of stroke. Methods A total of 410 cases of middle-aged and elderly hypertensive patients registered in community health service centers (or health centers) were randomly selected from 2 administrative regions of Wuhan to conduct a unified questionnaire survey. Chi-square test, analysis of variance and multivariate logistic regression were used to analyze the influencing factors of stroke symptoms in hypertensive patients. Results Of 31.83% the study subjects had stroke symptoms. The analysis of the results showed that high monthly per capital household income, adequate fruit intake and high level of dietary knowledge were protective factors for stroke symptoms in middle-aged and elderly patients with hypertension. Hypertension complications, annual medical check-ups in the hospital and a history of stroke / heart disease in immediate family members were risk factors for stroke symptoms. Conclusion Improving the health awareness of middle-aged and elderly people, vigorously promoting health education and raising the level of social security for low-income groups can reduce the risk of stroke in middle-aged and elderly patients with hypertension.

Objective:Platelet-derived growth factor alpha (PDGFRA) mutations are respectively rare in gastrointestinal stromal tumors (GIST). Most GIST with PDGFRA exon 18 mutations including D842V mutation are highly resistant to imatinib. The treatment of GIST harboring PDGFRA primary drug-resistant mutation is a major challenge. This article aims to investigate clinicopathologic features of GIST with PDGFRA-D842V mutation and the efficacy of comprehensive treatment, providing a reference for clinical practice. Methods:A retrospective cohort study was conducted to collect the clinicopathological and follow-up data of patients with GIST harboring PDGFRA mutation who were diagnosed and treated in the GIST Clinic of Renji Hospital from January 2005 to May 2020. According to the mutation site, the enrolled patients were divided into D842V mutation group and non-D842V mutation group. The differences of clinicopathologic characteristics between the two groups were compared. Furthermore, overall survival and prognostic factors were analyzed. Results:A total of 71 patients with PDGFRA-mutant GIST were included in this study, including 47 cases of D842V mutation (66.2%) and 24 cases of non-D842V mutation (33.8%). There were 28 male patients and 19 female patients in D842V mutation group, with a median age of 60 (36-82) years. There were 16 male patients and 8 female patients in non-D842V mutation group, with a median age of 62 (30-81) years. There were no significant differences in age, gender, primary location, surgical procedure, tumor size, mitotic count, expression of CD117 and DOG1, Ki-67 proliferation index and modified NIH grade between the two groups (all P>0.05). The positive rate of CD34 was 89.4% (42/47) and 62.5% (15/24) in the D842V mutation group and the non-D842V mutation group, respectively, with a statistically significant difference (χ 2=5.644, P=0.018). Among all the cases, 66 cases underwent R0 resection without preoperative treatment; two cases underwent emergency operation with R1 resection because of tumor rupture; 2 cases were not operated after the pathological and mutation types were confirmed by biopsy (one case received avapritinib treatment and obtain partial remission). One case was diagnosed as wild-type GIST per needle biopsy in another institute, and underwent R0 resection after preoperative imatinib treatment for 6 months. After surgery, 5 high-risk GIST patients with D842V mutation and 5 high-risk GIST patients with non-D842V mutation were treated with imatinib for more than one year. The median follow-up time was 37 (1-153) months. As of the last follow-up among the patients who received R0 resection, 4 patients with D842V mutation had relapse, of whom 1 was in the period of imatinib administration, and the 3-year relapse-free survival rate was 94.2%; none of the patients with non-D842V mutation had relapse. There was no statistically significant difference in relapse-free surivval between two groups ( P=0.233). Univariate analysis revealed that mitotic count ( P=0.002), Ki-67 proliferation index ( P<0.001) and modified NIH grade ( P=0.025) were the factors associated with relapse-free survival of patients with D842V mutation after R0 resection (all P<0.05). However, the above factros were not testified as independant prognostic facors in multivariate Cox analysis (all P<0.05). Conclusion:Clinicopathologic features and the efficacy of radical resection in patients with PDGFRA-D842V mutation are similar to those in patients with non-D842V mutation.