To analyze the characteristics of outpatient rare disease admissions at Xi′an Children′s Hospital based on the two batches of the China′s Rare Disease Catalogs.

Objective:To analyze the clinical significance of molecular classification and hereditary phenotype in endometrial carcinoma (EC) based on high throughput sequencing (NGS).Methods:97 EC samples were collected retrospectively from December 2019 to October 2022 in China-Japan Friendship Hospital. NGS technique was used to analyze the molecular classification, POLE hypermutation, microsatellite high Instability/mismatch repair dysfunction (MSI-H/MMRd), P53 protein abnormality (P53 abn), and non-specific molecular profile (NSMP). Lynch syndrome related genes and BRCA1/2 genes were detected by NGS and their genetic characteristics were analyzed. Results:Of the 97 EC cases, 77 were endometrial adenocarcinoma and 20 were other pathological subtypes. The proportions of the four molecular subtypes were 9.3% (9/97) POLE hypermutation, 16.5% (16/97) MSI-H, 17.5% (17/97) P53 abn and 56.7% (55/97) NSMP, respectively. There were significant differences in age, histological type, lymph node metastasis, pathological stage and other parameters among the four molecular types ( P＜0.05). 8.2% (8/97) were multiple molecular typing and four multiple molecular typings detected, including POLEmut-MSI-H, POLEmut-P53abn, MSI-H-P53abn, P53abn-P53abn, which accounted for 1.0% (1/97), 3.1% (3/97), 1.0% (1/97) and 3.1% (3/97), respectively. The consistent rate of MSI-H and MMR protein expression was 92.9% ( Kappa=0.818, P＜0.001). The coincidence rate between TP53 gene sequencing and P53 protein expression was 88.9% ( Kappa=0.661, P＜0.001). In MSI-H type, 25.0% (4/16) were diagnosed as Lynch syndrome, and 75.0% (12/16) were diagnosed as Lynch like syndrome. 7.2% (7/97) BRCA2 somatic variation was detected, while BRCA1/2 germline variation was not detected in 97 cases. Conclusions:EC molecular classification has feasibility and clinical value. High throughput sequencing can detect low frequency mutations of TP53 gene, suggesting that it can provide more accurate molecular information and more accurate molecular typing effect. It is suggested to further detect Lynch syndrome related genes in patients with MSI-H, so as to carry out genetic management for patients and their families and achieve better therapeutic effect.

Objective:To establish a linear calibration method using two reference substances for seven characteristic peaks of Cassiae Semen under complicated chromatographic condition,and to optimize the method.Methods:Using 15 different types of screened chromatographic columns and 2 components as reference compounds pair,the linear calibration method with 2 reference substances was established to predict the retention time of the other 5 components,and the method was verified by unknown chromatographic columns and unknown samples.Combined with column confirmation number and average coincidence rate of target peaks,the location results were compared comprehen-sively,and the method was optimized according to the defect under the influence of complicated chromatographic condition.Results:The average conformity rate of the target peak of the method before optimization was 73.3％,and the average conformity rate of the target peak of the optimized method was 98.7％.The optimized method has a high-er average peak coincidence rate and a wider range of applicability for the chromatographic column.Conclusion:The optimized linear calibration method using two reference substances can assist the localization analysis of chromato-graphic peaks in the characteristic chromatogram under complicated chromatographic condition.

Objective:To establish a linear calibration method using two reference substances for seven characteristic peaks of Cassiae Semen under complicated chromatographic condition,and to optimize the method.Methods:Using 15 different types of screened chromatographic columns and 2 components as reference compounds pair,the linear calibration method with 2 reference substances was established to predict the retention time of the other 5 components,and the method was verified by unknown chromatographic columns and unknown samples.Combined with column confirmation number and average coincidence rate of target peaks,the location results were compared comprehen-sively,and the method was optimized according to the defect under the influence of complicated chromatographic condition.Results:The average conformity rate of the target peak of the method before optimization was 73.3％,and the average conformity rate of the target peak of the optimized method was 98.7％.The optimized method has a high-er average peak coincidence rate and a wider range of applicability for the chromatographic column.Conclusion:The optimized linear calibration method using two reference substances can assist the localization analysis of chromato-graphic peaks in the characteristic chromatogram under complicated chromatographic condition.

Objective:To analyze the clinical significance of molecular classification and hereditary phenotype in endometrial carcinoma (EC) based on high throughput sequencing (NGS).Methods:97 EC samples were collected retrospectively from December 2019 to October 2022 in China-Japan Friendship Hospital. NGS technique was used to analyze the molecular classification, POLE hypermutation, microsatellite high Instability/mismatch repair dysfunction (MSI-H/MMRd), P53 protein abnormality (P53 abn), and non-specific molecular profile (NSMP). Lynch syndrome related genes and BRCA1/2 genes were detected by NGS and their genetic characteristics were analyzed. Results:Of the 97 EC cases, 77 were endometrial adenocarcinoma and 20 were other pathological subtypes. The proportions of the four molecular subtypes were 9.3% (9/97) POLE hypermutation, 16.5% (16/97) MSI-H, 17.5% (17/97) P53 abn and 56.7% (55/97) NSMP, respectively. There were significant differences in age, histological type, lymph node metastasis, pathological stage and other parameters among the four molecular types ( P＜0.05). 8.2% (8/97) were multiple molecular typing and four multiple molecular typings detected, including POLEmut-MSI-H, POLEmut-P53abn, MSI-H-P53abn, P53abn-P53abn, which accounted for 1.0% (1/97), 3.1% (3/97), 1.0% (1/97) and 3.1% (3/97), respectively. The consistent rate of MSI-H and MMR protein expression was 92.9% ( Kappa=0.818, P＜0.001). The coincidence rate between TP53 gene sequencing and P53 protein expression was 88.9% ( Kappa=0.661, P＜0.001). In MSI-H type, 25.0% (4/16) were diagnosed as Lynch syndrome, and 75.0% (12/16) were diagnosed as Lynch like syndrome. 7.2% (7/97) BRCA2 somatic variation was detected, while BRCA1/2 germline variation was not detected in 97 cases. Conclusions:EC molecular classification has feasibility and clinical value. High throughput sequencing can detect low frequency mutations of TP53 gene, suggesting that it can provide more accurate molecular information and more accurate molecular typing effect. It is suggested to further detect Lynch syndrome related genes in patients with MSI-H, so as to carry out genetic management for patients and their families and achieve better therapeutic effect.

Hypervirulent Klebsiella pneumoniae (hvKP) is a highly virulent variant of Klebsiella pneumoniae and can cause systemic invasive infection. The worldwide prevalence of hvKP infection continues to increase. Diabetic patients, especially those with poor glucose control, are at a higher risk for hvKP infection. The infection of hvKP in diabetic patients is characterized by high incidence, rapid progression and high fatality rate. The mechanisms underlying the susceptibility to hvKP in patients with diabetes include hyperglycemia-induced bacterial translocation, endothelial-epithelial barrier damage, immune evasion, high-load bacteremia, microthrombosis and hvKP carbon/iron metabolism-based regulation of virulence. A thorough understanding of the mechanisms underlying the susceptibility to hvKP in diabetic patients will be great significant to further improve clinical understanding and attention, and provide early prevention and effective diagnosis and treatment. This article summarizes the progress in the mechanisms of susceptibility to hvKP in diabetic patients in recent years.

Objective:To investigate the current situation and influencing factors of patients′ satisfaction with nursing humanistic care, and to provide reference for improving the quality of such care provided by hospitals.Methods:From July to August 2022, outpatients and inpatients in 30 provinces were selected by multi-stage stratified sampling as the survey objects. A cross-sectional survey was conducted on an online platform, using the general information questionnaire and Chinese version of methodist health care system nurse caring instrument revised by the research group. The latter instrument consists of 12 dimensions. namely care coordination, competence, teaching/learning, emotional support, respect for individuality, physical comfort, availability, helping/trusting relationship, patient/family engagement, physical environment, spiritual environment and outcomes. Descriptive analysis was performed on the data collected by the questionnaires, and independent sample t-test and one-way ANOVA were used to analyze the influencing factors of patient satisfaction. Results:A total of 107 hospitals were selected for questionnaire survey, including 86 tertiary hospitals and 21 secondary hospitals, and 29 108 valid questionnaires were recovered. The patient satisfaction with nursing humanistic care scored (5.40±0.86); the top three dimensions were competence (5.50±0.89), emotional support (5.47±0.88) and helping/trusting relationship (5.46±0.86); the lowest scoring dimensions were teaching/learning (5.38±1.01), spiritual environment (5.36±1.04) and patient/family engagement (5.11±1.28). Differences with gender, age, marital status, child status, educational level, occupation, place of residence, economic region, per capita monthly income of the family, type of medical insurance, medical department visited and surgery or not presented significant differences on the patient satisfaction with nursing humanistic care scores ( P<0.05). Conclusions:The satisfaction of patients with hospital′s nursing humanistic care in China was at the middle to upper level. In the future, health education for patients should be strengthened, and a mode of family-engaged nursing humanistic care should be constructed in line with the Chinese cultural background. In the process of nursing services, the particularity of patient groups should be considered to better meet their needs.

The COVID-19 pandemic caused by the novel SARS-CoV-2 virus has caused havoc across the entire world. Even though several COVID-19 vaccines are currently in distribution worldwide, with others in the pipeline, treatment modalities lag behind. Accordingly, researchers have been working hard to understand the nature of the virus, its mutant strains, and the pathogenesis of the disease in order to uncover possible drug targets and effective therapeutic agents. As the research continues, we now know the genome structure, epidemiological and clinical features, and pathogenic mechanism of SARS-CoV-2. Here, we summarized the potential therapeutic targets involved in the life cycle of the virus. On the basis of these targets, small-molecule prophylactic and therapeutic agents have been or are being developed for prevention and treatment of SARS-CoV-2 infection.

Objective:To analyze the value of folate receptor-positive circulating tumor cells (FR +-CTC) in the diagnosis and efficacy evaluation of patients with small cell lung cancer (SCLC). Methods:The data of 59 patients with SCLC and 14 patients with benign pulmonary diseases treated in China-Japan Friendship Hospital from May 2017 to October 2019 were retrospectively analyzed. Folate receptor targeted detection was used to detect the level of FR +-CTC in the blood of SCLC patients. The levels of serum progastrin-releasing peptide (Pro-GRP), neuron-specific enolase (NSE), cytokeratin 19 fragment 21-1 (Cyfra21-1) , and carcinoembryonic antigen (CEA) were detected by using chemiluminescence. The median ( P25, P75) was used as all the detection indexes. Mann-Whitney U test was used for pairwise comparison, Spearman correlation test was used to analyze the correlation between two variables, and receiver operator characteristic (ROC) curve was used to evaluate the diagnostic efficacy. Results:The level of FR +-CTC in 59 patients with SCLC was 11.00 FU/3 ml (7.10 FU/3 ml, 14.50 FU/3 ml), and the positive rate of FR +-CTC in patients with SCLC was 66.10% (30/59); the level of FR +-CTC in 14 patients with benign pulmonary diseases was 6.75 FU/3 ml (5.03 FU/3 ml, 7.85 FU/3 ml), and the positive rate of FR +-CTC in 14 patients with benign pulmonary diseases was 14.29% (2/14). The level of FR +-CTC in patients with SCLC was higher than that in patients with benign pulmonary diseases, and the difference was statistically different ( U = 33.50, P < 0.01). The expression level of FR +-CTC was not related to age, gender and smoking history in SCLC patients (all P>0.05). The expression level of FR +-CTC in patients with extensive-stage was higher than that in patients with limited-stage, and the difference was statistically significant ( P < 0.05). Tumor markers Pro-GRP, NSE, Cyfra21-1 and CEA were compared with FR +-CTC, and the ROC curve was drawn; the results showed that FR +-CTC had better sensitivity (71.2%) and specificity (92.90%) in the diagnosis of SCLC. For SCLC patients who received chemotherapy, the decrease range of FR +-CTC in patients with partial remission and stable disease was greater than that in patients with the progression of disease, and the differences were statistically significant (all P < 0.05). Conclusion:FR +-CTC can assist the diagnosis and disease staging of SCLC. For patients receiving chemotherapy, continuous detection of circulating tumor cells can help to evaluate the efficacy of chemotherapy and provide a reference for the choice of clinical treatment.

OBJECTIVE: To reconstruct a three-dimensional model of female urinary system based on magnetic resonance imaging (MRI) and tomography angiography (CTA) data. METHODS: MRI and CTA datasets were collected from 20 patients in our department in 2018 for reconstructing 3D models of the bladder urethra in resting state using Mimics19.0 software combined with engineering software. The metric parameters of the bladder urethra were analyzed in the reconstructed 3D model. RESULTS: The bladder and urethra were successfully reconstructed using 10 MRI datasets, and the kidney, ureter and bladder were reconstructed using 10 CTA datasets. Using engineering software, we measured a number of cysto-urethral geometric parameters, including the cysto-urethral posterior angle (151.1±17.9°), beta angle (137.3±14.0°), urethral pubic angle (47.8± 12.1°), urethral tilt angle (21.5±7.3°), alpha angle (83.8±13.8°), the posterior pubic space (15.3±3.0 mm), and the urethral striated muscle thickness (2.6±0.6 mm). CONCLUSIONS Three-dimensional reconstruction of the anatomical model of the human urinary system provides a platform for studying the fine anatomy of the female urinary system and allows measurement of multiple parameters to better understand the functional differences of the bladder and urethra in different populations.
Female ; Humans ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging ; Models, Anatomic ; Muscle, Skeletal ; Tomography, X-Ray Computed ; Urethra ; diagnostic imaging ; Urinary Bladder ; diagnostic imaging