Objective:To explore the role of indoleamine-pyrrole 2,3-dioxygenase (IDO),an immunomodulatory enzyme,in renal cell carcinoma (RCC).Methods:A total of 40 patients diagnosed as RCC in the Second Xiangya Hospital were included in this study.All patients received nephrectomy.The histopathological features of samples were assessed semi-quantitatively.IDO mRNA level in RCC and non-RCC renal tissues was determined by real-time quantitative PCR (RT-qPCR).And the expression of IDO protein in endothelial cells was examined by immunohistochemistry; a Kaplan-Meier survival curves was calculated on the basis of IDO mRNA level.Results:Level of IDO mRNA in RCC samples was significantly higher than that in tumor-free samples with P＜0.001.Patients with high IDO expression had an significantly longer survival time than those with low IDO expression (P=0.01).There was a statistically significant inverse correlation between IDO and proliferation marker Ki67.Patients with high IDO level were of low Ki67 level,and vice versa (P＜0.01).Conclusion:IDO might be a prognostic biomarker for patients with RCC.

OBJECTIVE: To evaluate the value of X-ray fluoroscopy in preventing catheter dysfunction during catheterization of peritoneal dialysis. METHODS: A total of 168 patients with end-stage renal failure were nonrandomized into group A (the conventional catheterization group) and group B (the conventional catheterization + bedside fluoroscopy group). All patients were followed up for 1 year after the catheterization. Details of the patients' general information, catheter-related complications and incidence of catheter dysfunction were analyzed. RESULTS: Hemorrhagic complications occurred in 9 patients (5.36%), including 2 incision hematomas, 4 bloody fluid drainages, 1 bladder perforation and 1 intestinal perforation (1.20%). Dialysate leakages occurred in 4 patients (2.38%): 2 right pleural effusion and 2 scrotal edemas. Infection-related complications (2.98%) in 5 patients were observed: 1 infectious peritonitis and 4 catheter exit infections. All peritoneal dialysis-related infections were cured after the treatment. There was no significant difference in the incidence of mechanical and infectious complications between the two groups (P> 0.05). No immediate catheter dysfunction was found in all patients, but late catheter dysfunction was observed in 14 patients (8.33%), including 9 catheter migrations (5.36%), 5 of which were induced by other reasons (2.98%). Catheter dysfunction in 11 out of the 14 patients occurred within 30 days post-catheterization, whereas 2 occurred over 30 days (caused by constipation). In group A, 12 patients developed delayed catheter dysfunction (11.65%), 10 of which (83.33%) were induced by catheter migration and the other 2 by other reasons. In group B, 2 (11.65%) delayed catheter dysfunctions were observed, including 1 catheter migration and 1 constipation. The incidence of catheter dysfunction in group A was significantly higher than that in group B (P<0.05). The success rate of catheterization in group B was 91.3%. CONCLUSION Catheter dysfunction is a common complication in peritoneal dialysis. X-ray fluoroscopy during catheter insertion helps to monitor the location of the catheter, which can effectively prevent late catheter dysfunction and increase the success of catheterization in peritoneal dialysis.
Aged ; Catheters, Indwelling ; Female ; Humans ; Kidney Failure, Chronic ; therapy ; Male ; Middle Aged ; Peritoneal Dialysis ; methods ; Radiography, Interventional

OBJECTIVE: To carry out genetic diagnosis for a pedigree affected with cutis laxa. METHODS: Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing. RESULTS: A heterozygous c.1985delG mutation was identified in the ELN gene among all patients from this pedigree. The same mutation was not found among unaffected family members and 50 healthy controls. CONCLUSION The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.
Cutis Laxa ; genetics ; Elastin ; genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Pedigree

Objective:To explore the accuracy of array comparative genomic hybridization(aCGH) in the unexpected detection of Duchenne muscular dystrophy ( DMD) gene duplication/deletion in prenatal diagnosis. Methods:A retrospective analysis was performed on 31 cases with DMD gene duplication/deletion detected by aCGH among 5 025 prenatal diagnosis samples without family history of DMD in Henan Provincial People's Hospital from July 2018 to December 2019. The multiplex ligation-dependent probe amplification (MLPA) method was used to verify the above results. The American College of Medical Genetics and Genomics (ACMG) guideline was referred for pathogenicity analysis of the detected duplicates/deletions. Descriptive analysis was adopted in analysis. Results:The total unexpected DMD gene duplication/deletion rate was 0.62% (31/5 025), among which 25 cases were with microduplication/microdeletion ≤ 200 kb and six were >200 kb; there were 24 cases of deletion, seven cases of duplication; exon or intron duplication/deletion were accounted for 19 and 12 cases, respectively. According to the five classification standards of ACMG guideline, there were 17 cases with pathogenic variants and 14 cases with uncertain pathogenicity/likely benign variants. Of the 19 with exon mutations, 17 cases were DMD intragenic variants, and two cases involved variants in and outside DMD gene, which were verified by MLPA whose results were all positive. Conclusions:The duplication/deletion of exon region of DMD gene detected by aCGH technique is accurate and reliable, which plays an important role in the diagnosis of DMD. For these cases involved both internal and external regions of DMD gene, aCGH can identify the upstream and downstream breaking points of DMD gene, thus providing the basis for ACMG grading.

To summarized the experiences from our basic experimental and clinical research on peritoneal dialysis. In the past 16 years, peritoneal fibrosis rat models and rabbit models of peritonitis were first established successfully in our laboratory in China. Peritoneal mesothelial cells were also separated and identificated. Besides, we assessed the biocompatibility of peritoneal dialysis fluid and analyzed the molecular mechanism of peritoneal mesothelial cell injury. We demonstrated the key role of transforming growth factor-beta1 (TGF-beta1), connective tissue growth factor (CTGF) and peroxisome proliferative activated receptor-gamma (PPAR-gamma) in the pathogenesis of peritoneal fibrosis, as well as their regulation of molecular mechanism. Furthermore, we transfected the plasmids encoding TGF-beta1-shRNA or pCTGF-shRNA into peritoneal cells and tissues by nanocarrier technologies. In clinical research, the positioning of peritoneal dialysis catheters, peritoneal dialysis treatment modalities and the prevention and treatment of its complications were studied. The characteristics and mechanism of solute transport in peritoneal dialysis was also explored.
Animals ; Connective Tissue Growth Factor ; metabolism ; Fibrosis ; physiopathology ; prevention & control ; Humans ; Kidney Failure, Chronic ; metabolism ; therapy ; Peritoneal Dialysis ; methods ; Peritoneal Dialysis, Continuous Ambulatory ; adverse effects ; Peritoneum ; pathology ; Rabbits ; Rats ; Retrospective Studies ; Tissue Adhesions ; physiopathology ; prevention & control ; Transforming Growth Factor beta ; metabolism

With the market-oriented application of new technologies and the development of various subjects in hospitals, more and more point-of-care test(POCT) devices appear in medical institutions, as an important method for rapid clinical acquisition of test results. As introduced by the authors, the hospital since 2017, established based on the hospital′s total quality management system, the POCT management committee, and built the hospital′s POCT quality management system. Thanks to its efforts, the hospital has fully standardized the POCT management from equipment procurement, test, maintenance, personnel training and examination, thus further ensuring medical quality.