1.Concurrent APC and MLH1mutations identified in a family affected with familial adenomatous polyposis.
Chenguang SHANG ; Linzhi LIU ; Xiaohui WANG ; Ying DONG ; Yan ZHANG
Chinese Journal of Medical Genetics 2018;35(1):84-88
OBJECTIVE To report on concurrent mutations of APC and MLH1 genes identified in a family affected with familial adenomatous polyposis(FAP). METHODS The proband was diagnosed with FAP based on her clinical manifestation, family history and histopathology examination. She developed endometrial epithelial neoplasia(EIN) two years later. With peripheral blood samples collected from her and members of her family, genomic DNA was extracted, and mutations of the APC and MLH1 genes were analyzed by Sanger sequencing. RESULTS Two novel heterozygous mutations were identified respectively in the APC gene(c.637C>T, p.R213X) and the MLH1 gene(c.1153C>T, p.R385C) in the proband. The former has resulted in a truncated protein, while the latter has led to substitution of Arginine by Cystine. CONCLUSION The concurrent mutations of the APC and MLH1 genes probably underline the FAP and Lynch syndrome(LS) in this pedigree. As the first female identified with such mutations, the proband manifested later onset of symptoms with certain degree of variation. For patient with FAP, a detailed family history should be taken.Potential mutation of the APC gene should be screened.Non-intestinal manifestations should be searched. For those who have developed endometrial lesion such as EIN, mutation of the MMR gene (associated with LS) should also be screened.
2.Changes of local vaginal immune regulation in rats infected with vulvovaginal candidiasis
Xi CHEN ; Ting LI ; Fengjuan WANG ; Chenguang SHANG ; Xu ZHANG ; Huihui BAI ; Zhaohui LIU
Chinese Journal of Obstetrics and Gynecology 2019;54(5):330-337
Objective To study the disease process of vulvovaginal candidiasis (VVC) infection in rat model of VVC, and to study the immuno-repairing effect of different treatments on vaginal epithelium and the ultra-structural changes of vaginal epithelial cells. Methods The VVC model of female rats were established. After successful modeling, the rats were treated with no treatment (model control group), nystatin and Kangfu Xiaoyan suppository. The vaginal epithelium was observed by transmission electron microscopy and immunohistochemical staining. The ultra-structural changes of epithelial cells and the expression of cytokines interferon γ (IFN-γ), interleukin (IL) 4, IL-17 and IgG in epithelial cells were observed and analyzed statistically. Results The negative conversion rate of model control group was 0, and that of nystatin group was 6/6, and that of Kangfu Xiaoyan suppository group was 5/6; significant difference existed between nystatin, Kangfu Xiaoyan suppository group and model control group (P<0.05). The ultrastructures of vaginal epithelial cells were damaged obviously after VVC infection, and the ultrastructures were repaired by nystatin and Kangfu Xiaoyan suppository under transmission electron microscope. Immunohistochemical staining showed, the expressions of IFN-γ and IgG in the four cytokines which played a protective role increased after Kangfu Xiaoyan suppository treatment, significantly different from that of model control group (P<0.05), but there were no significant differences of the IFN-γ and IgG expression between Kangfu Xiaoyan suppository group and those of nystatin group (P>0.05); the expression of IL-17 was increased after nystatin treatment, but decreased after Kangfu Xiaoyan suppository treatment, and the difference between the two groups had statistical significance (P<0.05). Conclusions The ultrastructure of vaginal epithelial cells after VVC infection could be damaged obviously, the local immune state is disordered, and the antifungal drug nystatin has a good therapeutic effect on VVC, it could significantly repair the damaged vaginal epithelium structure after VVC infection and strengthen the protective immune function of vaginal epithelium. Kangfu Xiaoyan suppository, one of Chinese medicine, has similar therapeutic effect with nystatin.
3.Analysis of homology and drug sensitivity of vaginal isolates of 10 patients with recurrent vulvovaginal candidiasis in recurrent episodes
Zhan ZHANG ; Huihui BAI ; Fengjuan WANG ; Ting LI ; Xiaonan ZONG ; Chenguang SHANG ; Zhaohui LIU
Chinese Journal of Obstetrics and Gynecology 2020;55(3):177-182
Objective:To detect karyotype homology of vaginal isolates from patients with recurrent vulvovaginal candidiasis (RVVC) in recurrent episodes, and to discuss changes of susceptibility of Candida strains to antifungal drugs with clinical progress.Method:s Ten patients were recruited from Beijing Obstetrics and Gynecology Hospital, Capital Medical University from September 2018 to June 2019, who were firstly diagnosed with RVVC. Vaginal discharges were collected before first treatment and after first relapse. Vaginal strains were isolated, purificated and identificated. Then karyotype of 20 strains isolated from 10 patients were detected by restriction endonuclease analysis of genomic DNA (REAG) using enzyme BssHⅡand pulsed field gel electrophoresis (PFGE) methods, and sensitivity of clinical isolates to 5 antifungal drugs (clostridium, fluconazole, miconazole, itraconazole and nystatin) was also detected using disk diffusion method. Result:s (1) All 20 strains of 10 patients with RVVC were Candida albicans, and their chromosomes were extremely similar after BssHⅡ enzyme digestion. The gene bands of isolated strains from the same patient were completely identical. (2) After clinical medication, the sensitivity of vaginal isolates to azoles was generally decreased, but remained highly sensitive to nystatin, nystatin (first and second clinical isolates: 100% sensitivity and 100% sensitivity)>clotrimazole (100% sensitivity and 90% sensitivity)>fluconazole (80% sensitivity and 70% sensitivity)>itraconazole (60% sensitivity and 50% sensitivity)>miconazole (30% sensitivity and 20% sensitivity). Conclusions:(1) The latency of the same colonized strain in the vagina may be the cause of repeated RVVC episodes. (2) Antifungal agents could selectively induce drug resistance to Candidas, and Candidas show cross-resistance to antifungal agents. Repeated fungal culture and drug sensitivity test in patients with RVVC are very necessary for correct selection of antifungals.
4.Perioperative factors affecting the length of hospital stay after cesarean section of pregnant women with heart disease
Jing PENG ; Kaiyun FANG ; Zhenghua WANG ; Shaopeng GANG ; Chenguang QIN ; Fujuan HE ; Naiying SHANG ; Hongbi SONG ; Yan ZHU
Chinese Journal of Obstetrics and Gynecology 2021;56(6):408-417
Objective:To explore the related factors influencing the length of hospital stay(LOS) of pregnant women with heart disease (PWHD) after cesarean section.Methods:A total of 306 patients with PWHD who underwent cesarean section from January 2012 to March 2019 were collected. Among them, 203 patients had not undergone heart surgery (uncorrected group) and 103 patients who had undergone heart surgery (corrected group) during the same period. Demographic, perioperative and postoperative data were recorded. Predictors associated with postoperative LOS were determined using univariate and multivariate linear regression analysis models.Results:(1) The median LOS after cesarean section in the uncorrected group was 6 days (5-8 days). The results of univariate linear regression analysis showed that 38 parameters had significant impact on LOS ( P<0.05). The results of multivariate linear regression analysis showed that 5 parameters were independent risk factors for prolonged LOS in the uncorrected group; among them, the median LOS in uncorrected group with hypertensive disorders of pregnancy was 3 days longer than that in patients with PWHD alone [7 days (5-8 days) vs 4 days (4-5 days), β=0.195, P=0.001]; the median LOS in uncorrected group with high serum creatinine was 3 days longer than normal patients [7 days (5-13 days) vs 4 days (4-5 days), β=0.145, P=0.015]; the LOS of patients who chose general anesthesia was 2 days longer than that of patients who chose spinal anesthesia [6 days (4-8 days) vs 4 days (4-5 days), β=0.154, P=0.007]; the LOS of patients with postoperative pulmonary infection was 4 days longer than that of patients without pulmonary infection [8 days (5-15 days) vs 4 days (4-5 days), β=0.269, P<0.01]; the LOS of patients who admitted to ICU after surgery was 2 days longer than that not admitted patients [6 days (5-8 days) vs 4 days (4-5 days), β=0.268, P<0.01]. (2) The median LOS after cesarean section in corrected group was 4 days (4-5 days). The results of univariate linear regression analysis showed that 8 parameters had significant impact on the LOS (all P<0.05). The results of multivariate linear regression analysis showed that 2 parameters, which were American Society of Anesthesiologists (ASA) grade ( β=0.198, P=0.028) and intraoperative blood loss ( β=0.285, P=0.003), were the independent risk factors for prolonged LOS in corrected group. Conclusion:Preoperative with hypertensive disorders of pregnancy, preoperative creatinine increase, intraoperative general anesthesia, postoperative pulmonary infection, and postoperative admission to ICU are independent predictors of prolonged LOS in uncorrected patients with PWHD; ASA classification and intraoperative bleeding are independent predictor of prolonged postoperative LOS in patients with corrected PWHD.
5.Efficacy of prophylactic irradiation of internal mammary lymph nodes in breast cancer: a Meta-analysis
Sicong JIA ; Zhikun LIU ; Jun ZHANG ; Chenguang ZHAO ; Longyu ZHU ; Jie KONG ; Huina HAN ; Yuguang SHANG ; Dongxing SHEN ; Xuejuan DUAN
Chinese Journal of Radiation Oncology 2021;30(9):903-909
Objective:To evaluate the effect of prophylactic irradiation of internal mammary lymph nodes in patients with breast cancer in this Meta-analysis.Methods:CNKI, Wanfang Medical network, CBM, PubMed, EMBASE and Web of Science were searched by computer. The controlled clinical studies comparing whether or not internal mammary lymph node irradiation as an intervention were included and the quality of the included literature was evaluated according to Newcastle-Ottawa Scale (NOS). RevMan 5.3 software and Stata 14 software were used for Meta-analysis.Results:A total of 11 original articles were included, and 13 181 patients were included for Meta-analysis. There was no statistically significant difference in the overall survival (OS) between patients with and without internal mammary lymph node irradiation ( P=0.490). The subgroup analysis using the date of treatment and the degree of risk in the enrolled population as criteria showed that 5-year OS was significantly increased after internal mammary area irradiation in high-risk stage Ⅱ-Ⅲ patients (N+ , T 3-T 4 stage) with the date of treatment of after 2000( P=0.003, 0.006). Compared with patients without internal mammary area irradiation, internal mammary irradiation significantly increased the 5-year disease-free survival (DFS)( P<0.001). Conclusion:Under the modern radiotherapy technology, internal mammary lymph node irradiation improves the DFS of patients, and may bring OS benefits to high-risk stage Ⅱ-Ⅲ breast cancer patients (N+ , T 3-T 4 stage).
6.Development of a predictive model of pulmonary hemorrhage in patients after CT-guided coaxial core needle lung biopsy
Linyun YANG ; Ting LIANG ; Yonghao DU ; Chenguang GUO ; Jin SHANG ; Pokharel SAUGAT ; Gang NIU
Journal of Xi'an Jiaotong University(Medical Sciences) 2021;42(5):747-754
【Objective】 To establish a predictive model for patients with hemorrhage after CT-guided coaxial core needle lung biopsy (CCNB) based on logistic regression. 【Methods】 A total of 489 patients who had undergone CCNB were retrospectively recruited. The potential risk factors of hemorrhage after lung biopsy were analyzed by univariate and multivariate logistic regression, through which we screened the independent risk factors and established a prediction model for hemorrhage. We evaluated the discrimination, calibration and clinical usefulness of the model. 【Results】 There were 141 cases (42.6%) of hemorrhage in the development group and 66 cases (41.8%) of hemorrhage in the validation group; there was no case of severe hemorrhage or hemothorax. Multivariate logistic regression analysis showed that fibrinogen degradation products, pulmonary interstitial fibrosis, largest diameter and puncture depth were independent predictive factors of hemorrhage. Hemorrhage prediction model was established and presented in the form of a nomogram. Discrimination of the model: the AUC was 0.837 in the development group and 0.777 in the validation group. The calibration curve showed good agreement between predicted probability and actual probability of hemorrhage. The unreliability test yielded a P value of 0.849 in the development group and 0.147 in the validation group. The DCA curve showed that the hemorrhage predictive model could increase the benefit of patients. 【Conclusion】 The predictive model of hemorrhage in patients after CCNB based on logistic regression can be used in clinical practice.