1.Expressions of PCNA, c-erbB-2, p53, ER and PR in tissues adjacent to breast cancer
Zongliang JIA ; Zijing LIN ; Xiangming CHE ; Lu YAO
Journal of Xi'an Jiaotong University(Medical Sciences) 2010;31(2):212-216
Objective To detect the expressions of proliferating cell nuclear antigen (PCNA), C-erbB-2, p53, estrogen receptor (ER) and progesterone receptor (PR) in order to explore the proper margin for breast conservative surgery on Chinese women. Methods We collected 40 resection specimens from breast cancer patients who had received radical surgery. Then we divided each specimen into primary tumor group and hyperplasia and gene expression characteristics of PCNA, c-erbB-2, p53, ER and PR were measured by pathological and immunohistochemical assay in the five groups. Results With the further distance from the primary tumor, the proportions of high-risk disease and positive gene expressions of PCNA, c-erbB-2 and p53 in paracarcinoma tissues gradually decreased (P<0.05). Higher risk and more positive expressions were related to paracarcinoma was no correlation of PCNA, ER and PR expressions adjacent to breast cancer with tissue differentiation and lymph node metastasis (P>0.05). a safe and appropriater region for breast conservative surgery.
2.The reference value of ultrasonography image features, elastography and serum TSH levels in preoperative diagnosis of differentiated thyroid carcinoma
Na WANG ; Xiaoqiu DONG ; Na JIANG ; Zijing NIAN ; Jinlai YAO ; Ye YU
Chinese Journal of Endemiology 2021;40(5):394-398
Objective:To investigate the reference value of ultrasonography (US) image features, elastography and serum thyroid stimulating hormone (TSH) levels in preoperative diagnosis of differentiated thyroid carcinoma (DTC).Methods:Retrospective analysis was conducted to collect clinical data of patients undergoing thyroid surgery in the Fourth Affiliated Hospital of Harbin Medical University from September 2018 to January 2020. All patients underwent conventional ultrasound, elastography examination and serum TSH level measurement before surgery; patients were divided into benign group and DTC group according to the results of pathological results of the operation, and the US image features and elasticity score were analyzed by chi-square test and multivariate logistic regression to evaluate the causes of DTC; a multivariate logistic regression model was established and the receiver operating characteristic curve (ROC) was drawn with the regression model, by analyzing the area under the ROC curve (AUC), sensitivity, specificity and accuracy, the reference value of US image features, elastography and serum TSH levels in the preoperative diagnosis of DTC were judged.Results:Clinical data of 81 patients were collected, including 17 men and 64 women, aged (48.72 ± 10.58) years. In benign group, there were 37 cases, including 10 men and 27 women, with age of (53.24 ± 9.59) years; there were 44 patients in DTC group, including 7 men and 37 women, with age of (44.91 ± 9.95) years old, the age difference between benign group and DTC group was significant ( t = 3.822, P < 0.05), while the gender difference was not statistically significant (χ 2 = 1.498, P > 0.05). There were significant differences in the number, size, echo level, microcalcification, aspect ratio and elasticity score between benign group and DTC group (χ 2 = 49.000, 4.457, 32.111, 5.444, 4.457, 49.926, P < 0.05); multivariate logistic analysis showed that hypoecho, microcalcification, aspect ratio > 1 and elasticity score were risk factors for DTC ( OR = 8.042, 4.787, 4.160, 2.380, P < 0.05), the ROC curve of the multivariate logistic regression model showed that the AUC was 0.841 (95% CI = 0.743 - 0.939), sensitivity was 90.91%, specificity was 72.97%, and accuracy was 82.72%; the AUC of serum TSH level prediction of DTC showed that the AUC was 0.721 ( P < 0.05), sensitivity was 72.70%, specificity was 64.90%, accuracy was 54.30%, and TSH best cut-off value was 2.215 μU/ml. Conclusion:In the preoperative diagnosis of DTC, US image features, elastography and serum TSH levels are of important clinical reference value for diagnosis of DTC, and the establishment of multivariate logistic regression model is conducive in improving the clinicians prediction of the occurrence of DTC.
3.Study on pathogenesis and laboratory diagnosis of a family with von Willebrand disease caused by c.1117C>T/c.7288-9T>G compound heterozygous mutation
Zhongzhou TAN ; Yao LU ; Linzi MIAO ; Yuanyuan LI ; Zijing ZHU ; Yinan SONG ; Yan GONG ; Chenxue QU
Chinese Journal of Clinical Laboratory Science 2024;42(2):121-125
Objective To explore the diagnosis of clinically suspicious von Willebrand disease(vWD)in a family and its pathogene-sis.Methods The pedigree information and the biological specimen were collected from the clinically suspected VWD patient and her family members(4 persons in total)in Peking University First Hospital.The levels of platelet count(PLT),activated partial thrombo-plastin time(APTT),vWF antigen(vWF:Ag),vWF activity(vWF:Ac)and FⅧ activity(FⅧ:C)were detected,and vWF risto-cetin cofactor(vWF:RCo)assay,ristocetin-induced platelet aggregation assay(RIPA)and vWF collagen binding(vWF:CB)assay were performed for phenotype diagnosis.The peripheral blood genomic DNAs were extracted from the proband and her family members to perform whole-exome sequencing for identifying the mutation of vWF gene,The mutation site was analyzed by using bioinformation tools to explore the pathogenesis of the proband.Results The APTT of proband(m 1)was slightly prolonged and her vWF:Ag,vWF:Ac,vWF:RCo and vWF:CB were significantly decreased.There was no obvious aggregation in RIPA assay(1.0 mg/mL and 1.25 mg/mL).In her father(Ⅱ3),APTT,FⅧ:C,vWF:Ag,vWF:Ac and vWF:CB were normal,but vWF:RCo was slightly decreased.In her mother(Ⅱ4),APTT,FⅧ:C,vWF:Ag,vWF:RCo and vWF:CB were all normal,but vWF:Ac significantly decreased.In her brother(Ⅲ2),APTT and FⅧ:C were normal,but vWF:Ag,vWF:Ac,vWF:RCo and vWF:CB were reduced to varying degrees.In all the family members(father,mother and brpther),no apparent aggregation in RIPA(1.0 mg/mL)was shown.Genetic analysis showed that the proband(Ⅲ1)carried a compound heterozygous mutation of vWF gene c.7288-9T>G and c.1117C>T,her father(Ⅱ3)carried vWF gene c.7288-9T>G heterozygous mutation,and vWF gene c.1117C>T heterozygous mutation was presented in both mother(Ⅱ4)and brother(Ⅲ2).Conclusion According to the results of laboratory tests,the proband was diagnosed as type 2A vWD.The hetero-zygous mutation in vWF gene c.1117C>T and c.7288-9T>G may be the molecular mechanism leading to type 2A vWD in the proband.
4.The predictive value of lung ultrasound score for bronchopulmonary dysplasia in preterm infants: a meta-analysis
Zijing YAO ; Chun DENG ; Guotao ZOU
Chinese Journal of Neonatology 2022;37(6):535-540
Objective:To study the early predictive value of lung ultrasound score for bronchopulmonary dysplasia (BPD) in preterm infants with gestational age ≤32 w.Methods:From the establishment of the databases PubMed, Medline, Embase, Cumulative Index to Nursing and Allied Health (CINAHL), Cochrane Library, CNKI, CQVIP and Wanfang databases to February 17, 2022, studies on BPD with lung ultrasound score were searched. Literatures were screened according to the inclusion and exclusion criteria. The quality of the literature was evaluated and the eligible data were extracted. Stata 15.1 software was used for Meta-analysis.Results:Fourteen studies with a total of 1 645 preterm infants were included. The results showed that the sensitivity of the lung ultrasound score at 7 d of life predicting BPD was 0.71 (95% CI 0.64~0.77), the specificity was 0.83 (95% CI 0.74~0.89), and AUC was 0.81 (95% CI 0.78~0.84). At 14 d, the sensitivity was 0.64 (95% CI 0.59~0.69), the specificity was 0.89 (95% CI 0.72~0.96), and AUC was 0.68 (95% CI 0.64~0.72). Meta-analysis showed that sex, BA and birth weight were not sources of heterogeneity. Conclusions:Meta-analysis shows that lung ultrasound score has predictive value for BPD in preterm infants with GA ≤32 w, especially at 7 d of life. Lung ultrasound score is helpful in clinical decision-making.