Objective To discuss the significance of the retrograde urethrography in diagnosis and treatment of urethraltrauma. Methods 78 cases with urethraltrauma treated by the retrograde urethrography were retrospectively analyzed. Results The location and extent of urethral injury was determined according to the place and speed of contrast medium overflow and the diffuse range. Among 78 cases ,29 cases were bulbar urethral trauma and other 49 cases were membranous urethral trauma.Conclusion Retrograde urethrography is simple, practical and easy to operate for determining the injured part of urethra and the extent of damage of urethraltrauma, and was instructional for the choice of operation method and incision.

Background: The onset and progression of type 1 diabetes mellitus (T1DM) is closely related to autoimmunity. Effective monitoring of the immune system and developing targeted therapies are frontier fields in T1DM treatment. Currently, the most available tissue that reflects the immune system is peripheral blood mononuclear cells (PBMCs). Thus, the aim of this study was to identify key PBMC biomarkers of T1DM. Methods: Common differentially expressed genes (DEGs) were screened from the Gene Expression Omnibus (GEO) datasets GSE9006, GSE72377, and GSE55098, and PBMC mRNA expression in T1DM patients was compared with that in healthy participants by GEO2R. Gene Ontology, Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway and protein-protein interaction (PPI) network analyses of DEGs were performed using the Cytoscape, DAVID, and STRING databases. The vital hub genes were validated by reverse transcription-polymerase chain reaction using clinical samples. The disease-gene-drug interaction network was built using the Comparative Toxicogenomics Database (CTD) and Drug Gene Interaction Database (DGIdb). Results: We found that various biological functions or pathways related to the immune system and glucose metabolism changed in PBMCs from T1DM patients. In the PPI network, the DEGs of module 1 were significantly enriched in processes including inflammatory and immune responses and in pathways of proteoglycans in cancer. Moreover, we focused on four vital hub genes, namely, chitinase-3-like protein 1 (CHI3L1), C-X-C motif chemokine ligand 1 (CXCL1), matrix metallopeptidase 9 (MMP9), and granzyme B (GZMB), and confirmed them in clinical PBMC samples. Furthermore, the disease-gene-drug interaction network revealed the potential of key genes as reference markers in T1DM. Conclusion These results provide new insight into T1DM pathogenesis and novel biomarkers that could be widely representative reference indicators or potential therapeutic targets for clinical applications.

OBJECTIVE: To carry out genetic testing for a Chinese patient with X-linked hypohidrotic ectodermal dysplasia (XLHED) and explore its genotype-phenotype correlation. METHODS: Clinical data of the patient was collected. Peripheral blood samples were taken from the patient, his parents and 100 unrelated healthy controls. Genetic variants were detected by using next-generation sequencing using a skin-disease panel through targeted capture and next generation sequencing. Candidate variant was verified by Sanger sequencing. All literature related to genetic testing of XLHED patients in China was searched in the database, and the genotypes and phenotypes of patients in the literature and the correlation between them were statistically analyzed. RESULTS: A novel splice site variant c.655_689del was detected in the patient but not among his parents and the 100 unrelated healthy controls. So far 61 variants of the EDA gene have been identified among Chinese patients with XLHED, which suggested certain degree of genotype-phenotype correlation. CONCLUSION A novel c.655_689del variant has been identified in the EDA gene, which has expanded the spectrum of EDA gene variant and facilitated delineation of the genotype-phenotype correlation of XLHED.
Child ; China ; Ectodermal Dysplasia 1, Anhidrotic/genetics* ; Ectodysplasins/genetics* ; Genetic Testing ; Genotype ; Humans ; Phenotype

OBJECTIVE： To provide experience and reference for the study of medical insurance budget impact analysis （BIA） in China. METHODS： Retrieved from PubMed， ProQuest， CNKI， Wanfang database and CBM， related literatures about medical insurance BIA research in China and the United States were collected since the establishment of the database. The basic information， analysis results and data sources were summarized and sorted out， and descriptive analysis of the included literature was carried out on basis of seven key elements such as model design， research perspective， treatment cost， reference scenario， target population， research time limit and discount/inflation， sensitivity analysis. RESULTS： A total of 72 literatures were included in this study， involving 24 （33.33％） studies in China， 48 （66.67％） studies in the United States； the indications of 45 studies were chronic diseases （62.50％）， and those of 21 studies were acute diseases （37.50％）. Among the research methods， 49 studies （68.06％） used BIA alone and 23 studies （31.94％） adopted BIA combined with pharmaceutical economics. In terms of model design， 50 studies （69.44％） adopted cost calculation models. In terms of research perspective， 60 studies （81.94％） were based on the perspective of medical insurance department research. In the calculation of treatment cost， 69 studies （95.84％） included drug cost. In terms of reference scenarios， 61 studies （84.72％） compared the economics of different drug-based treatment groups. For target population， only 31  （43.06％） studies used real world data. In terms of research duration and discount/inflation， 14 studies （19.44％） used treatment or length of hospitalization to indicate research duration， and 19 studies （26.39％） used discount rate or inflation rate to adjust costs. As for sensitivity analysis， 62 studies （86.11％） conducted sensitivity analysis， of which 49 （68.06％） used single factor sensitivity analysis. CONCLUSIONS： There are still some limitations in medical insurance BIA research literature in China and the United States， such as unreasonable use of data， incomplete coverage of the cost， and unreasonable setting of sensitivity analysis variables. It is recommended that BIA research should standardize data sources to improve the quality of budget evidence quality， reasonably evaluate market size to improve the authenticity of prediction， scientifically set variables and their scope of change to improve the stability of results， establish BIA research paradigms or evaluating standards so as to guide BIA research scientifically.

Humans ; COVID-19 Vaccines/therapeutic use* ; COVID-19/prevention & control* ; SARS-CoV-2 ; China ; Antibodies, Viral