1.Expression and clinical significance of CCNG2 in glioblastoma pa-tients
Xianglong CHEN ; Kefei HE ; Xiaoting CHEN
Chinese Journal of Clinical Oncology 2014;46(4):237-241
Object:To investigate the expression of cell cyclin G2 (CCNG2) in glioblastoma tissues and to explore the correla-tion of CCNG2 expression with clinicopathological parameters and clinical significance. Methods:Surgical specimens of glioblastoma were collected from a total of 129 cases. The expression of CCNG2 in 109 specimens with complete clinical data was examined via QRT-PCR and immunohistochemistry. Results:The expression of CCNG2 was significantly decreased in higher stages of glioblastoma compared with those in lower stages. Therefore, CCNG2 is inversely correlated with the stage of the disease. The expression of CCNG2 was associated with tumor stage, sensitivity to chemotherapy and radiotherapy, as well as survival times (P<0.05). CCGN2 was not cor-related with gender and age (P>0.05). Conclusion: CCNG2 expression may be associated with the development, treatment efficacy, and prognosis of glioblastoma. In addition, CCGN2 can be used to evaluate the malignant behavior of glioblastoma.
2.Risk Prediction Model and Scoring System Analysis in Patients With Side Branch Occlusion During Coronary Bifurcation Intervention
Yuan HE ; Dong ZHANG ; Dong YIN ; Bo XU ; Kefei DOU
Chinese Circulation Journal 2015;(9):827-832
Objective: To establish a risk prediction model and scoring system in patients with side branch (SB) occlusion during coronary bifurcation intervention. Methods: A total of 7007 consecutive patients who received percutanenous coronary intervention (PCI) in our hospital from 2012-02 to 2012-07 were recruited and 1545 patients (with 1601 bifurcation lesions) treated by single stent technique or main vessel stenting ifrst strategy were selected for our study. According to weather SB occlusion occurred during operation, the lesions were divided into 2 groups: Non-SB occlusion group,n=1431 and SB occlusion group,n=114. The data set of the ifrst 1200/1601 lesions by time sequence, was used for establishing the risk model and scoring system, the data set of rest 401 lesions was used for model validation. Results: The modeling data set presented that the relationship between pre-operative main vessel plaque and the position of branch vessel, the main blood vessel pre-stenting TIMI grade, the stenosis degree of pre-operative bifurcation nucleus, the angle of pre-operative bifurcation and the ratio of pre-senting stenosis degree of branch diameter and pre-operative main vessel to branch vessel diameter were the independent risk factors for branch occlusion. The risk model ROC=0.80, 95% CI 0.75-0.85, Hosmer-Lemeshow HLP=1.00; the scoring system ROC=0.76, 95% CI 0.71-0.82, HLP=0.12. The validation data set ROC=0.81, 95% CI 0.73-0.89, HLP=0.77; the scoring system ROC=0.77, 95% CI 0.69-0.86, HLP=0.58. The quartile integration of both data sets indicated that the patients with the integration score ≥ 10 had the higher risk for SB occlusion than those with integration score < 10 during the operation,P<0.001. Conclusion: Our research developed a simple and user-friendly system, it may distinguish the patients with high risk of SB occlusion during bifurcation intervention by quantitative stratiifcation of coronary angiographic imaging.
3.Serum neurotrophin profiles in dermatomyositis complicated with interstitial lung damage
Kefei WU ; Yujia LI ; Lei LEI ; He JING ; Yongxin HAO ; Pingting YANG ; Weiguo XIAO
Chinese Journal of Rheumatology 2014;18(6):405-407
Objective To investigate the profiles of serum nerve grow factor profile (NGF),neurotrophin (NT)-3,as well as brain-derived neurotrophic factor (BDNF) in patients with dermatomyositis (DM) complicated with interstitial lung damage (ILD).Methods Forty-seven patients were divided into 2 groups:ILD group (30 patients) and non-ILD group (17 patients).Twenty healthy blood donors were used as controls.Serum levels of NGF,NT-3,as well as BDNF were measured serum by enzyme-linked immunosorbent assay (ELISA).ANOVA was used to compare serum level of NTs.When a significant difference was found,the exact P-values were calculated using the student's t-test or t-test followed by Bonferroni's correction.Pearson test was used for correlation analysis.Results The serum NGF levels in healthy control group,the non-ILD group and the ILD group were (182±43),(308±72),(480±96) pg/ml respectively.There was statistically significant difference between the three groups (F=90.3,P<0.01),and the serum NGF levels were elevated significantly in ILD and non-ILD patient groups as compared with healthy controls (t=12.9 and t=6.5 respectively,both P<0.01).The serum level of NGF was significantly higher in ILD group than that in the non-ILD group (t=6.4,P<0.01).There was no significant difference in the serum levels of NT-3 among the two patient groups and healthy controls.On the contrary,BDNF levels were significantly decreased in both ILD [(792± 106) pg/ml] and non-ILD patients groups [(963±93) pg/ml] when compared with healthy controls [(1 281±107) pg/ml] (t=15.9 and t=9.6 respectively,both P<0.01).The decrease was also significant in ILD group when compared with non-ILD group (t=5.6,P<0.01).Moreover,NGF and BDNF both showed significant correlation with serum C-reactive protein (CRP) level in ILD group by applying Pearson correlation analysis (r=0.56,P<0.01; r=-0.48,P<0.05 respectively).Conclusion Neurotrophins may play an import role in the pathogenesis of DM.
4.CT characteristic findings of Meckel's diverticulum and its complications in children
Jun HU ; Kefei HU ; Gengwu LI ; Chuangao YIN ; Zhen ZHAO ; Yue WANG ; He HUANG ; Qun GAO
Chinese Journal of Radiology 2011;45(4):358-361
Objective To investigate the CT manifestations of Meckel's diverticulum and its complications in children. Methods Retrospective analysis of Clinical and CT findings in 25 cases with pathologically proved Meckel's diverticulum. The unenhanced and contrast-enhanced CT were obtained in all patients. Results (1)The direct signs: the diverticulum cannot be shown in 5 cases; the diverticulums were found around the navel or in lower right abdomen in 20 cases. The blind-ending fluid-filled or gas-filled structures were found in 9 cases, with heterogeneous ring-enhancement. The tubercle-like structures were detected in 11 cases, which showed no enhancement in 4 cases, and homogeneous enhancement in 3 cases,and heterogeneous enhancement in 4 cases. (2) The indirect signs included intestine obstruction in 8 cases,swelling fat layer surrounding the diverticulum in 9 cases, free gas around the diverticulum in 3 cases,thickened mesentery in 8 cases, ascites in 4 cases, and intussusception due to inverted Meckel's diverticulum with "target sign" in 1 case. (3) CT classification: with diverticulitis or diverticular bleeding in 20 eases; with intestine obstruction or intussusception in 8 cases; bands-caused obstruction in 7 cases;intussusception in 1 case; with perforation in 3 cases. Conclusion Meckel's diverticulum and its complications have typical CT findings, and CT can clearly demonstrate diverticulum's shape, margin,internal components and surroundiug tissues.
6.A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene.
Juanjuan WANG ; Xiaoliang HE ; Denghuan CHEN ; Shouwei HANG ; Yutong GAO ; Xu LI ; Kefei HU ; Chuanqing BAI ; Yuqing CHEN
Chinese Journal of Medical Genetics 2021;38(10):977-980
OBJECTIVE:
To detect variant of TRNT1 gene in a child featuring sideroblastic anemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD).
METHODS:
The proband and his parents were analyzed through trio-whole exome sequencing. Sanger sequencing and bioinformatic analysis were carried out to verify the candidate variant sites associated with the clinical phenotype.
RESULTS:
Genetic testing showed that the proband has carried compound heterozygous variants of the TRNT1 gene, namely c.88A>G(p.Met30Val) and c.363G>T(p.Glu121Asp). Sanger sequencing confirmed that the variants were respectively inherited from his father and mother. The variants were unreported previously. By bioinformatic analysis, both variants were predicted to affect the stability of binding of the TRNT1 protein with tRNA. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.88A>G and c.363G>T variants of TRNT1 gene were predicted to be uncertain significance (PM2+PP3+PP4) and likely pathogenic (PM1+PM2+PP3+PP4), respectively.
CONCLUSION
The c.88A>G (p.Met30Val) and c.363G>T(p.Glu121Asp) compound heterozygous variants of the TRNT1 gene probably underlay the disease in this patient. Above finding has enriched the spectrum of TRNT1 gene variants.
Genetic Testing
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Humans
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Nucleotidyltransferases