Correlation analysis of ultrasound features and BRAF V600E gene mutation in thyroid cancer / 肿瘤研究与临床

Objective:To investigate the relationship between BRAF V600E gene mutation and ultrasonography manifestations as well as the lesion invasiveness in thyroid cancer.Methods:A total of 153 patients pathologically diagnosed as thyroid cancer after surgery who underwent thyroidectomy in Shanxi Provincial Cancer Hospital from January 2018 to October 2019 were selected, including 146 cases of papillary thyroid carcinoma. Ultrasonography was performed before operation. Paraffin embedded tissue after operation was used to detect BRAF V600E gene mutation. According to the results of BRAF V600E gene detection, patients were divided into mutation group and non-mutation group. The ultrasonic characteristics of the two groups were compared. The relationship of BRAF V600E gene mutation with ultrasonic characteristics, clinicopathological characteristics as well as cervical lymph node metastasis was analyzed by using logistic regression.Results:There were 130 cases (85.0%) of BRAF V600E gene mutation and 23 cases of BRAF V600E gene non-mutation in 153 patients with thyroid cancer. Among 146 cases with papillary thyroid carcinoma, there were 128 cases (87.7%) of BRAF V600E gene mutation. The percentage of patients with the unclear boundary between thyroid lesions and capsule in BRAF V600E gene mutation group was higher than that of patients in non-mutation group, and the difference was statistically significant [46.9% (60/128) vs. 11.1% (2/18), χ 2 = 8.261, P = 0.004]. There were no significant differences in age, gender, nodule long diameter, aspect ratio, nodal location, internal calcification, internal echo, echo uniformity, cystic solid, nodal shape, boundary clarity, blood flow signal, the number of tumor site, lymph node metastasis and nodular goiter between BRAF gene mutation group and non-mutation group (all P > 0.05). The results of logistic regression analysis showed that only the boundary clarity between thyroid lesions and capsule was an independent influencing factor of BRAF V600E gene mutation ( OR = 14.400, 95% CI 1.847-112.246, P = 0.011), tumor lesion size was an independent influencing factor of cervical lymph node metastasis in papillary thyroid carcinoma ( OR = 2.714, 95% CI 1.335-5.517, P = 0.006). Conclusions:In papillary thyroid carcinoma, BRAF V600E gene mutation is related with lesion and the unclear boundary between the tumor and capsule, but not related with lymph node metastasis. The size of the tumor lesion is associated with lymph node metastasis.

MicroRNA expression in patients with β-thalassemia major / 国际检验医学杂志

Objective To explore microRNA (miRNA) expression patients with β-thalassemia major.Methods MiRNA differential expression were detected in β-thalassemia major by miRNA microarray analysis and quantitative real-time PCR.Results The results of miRNA array showed that 26 differential expression miRNAs were up regulated and 30 differential expression miRNAs were down regulated.Hsa-miR-618 which expression was up regulated and hsa-miR-103a-2-5p which expression was down regulated were selected for quantitative real-time PCR detection.It was showed that the expression tendency of hsa-miR-618 and hsa-miR-103a-2-5p were consistent.So the method of miRNAs array was reliable.The target genes of 17 miRNAs which were up regulated and 24 miRNAs which were down regulated were predicted by using database software.Conclusion It is notable that the differential expression of miRNAs in patients with β-thalassemia major.It will be afforded new direction and thinking for the mechanism research and disease treatment through the further research of the miRNAs regulation pathway in β-thalassemia major.

Amniotic fluid chromosome detection for 95 NIPT high-risk pregnant women / 国际检验医学杂志

Objective To analysis of the detection result of amniotic fluid chromosome which in NIPT high-risk pregnant women.Methods Amniotic fluid cells via amniotic cavity puncture were cultured and analyzed,the chromosome karyotypes were observed.Results The highest positive predictive value of NIPT was for trisomy 21(85.00%),then trisomy 18(75.00%),sex chromosome abnormalities(68.00%),other chromosome abnormalities(41.67%),trisomy 13 (25.00%).Conclusion The highest accuracy of NIPT was shown in detection of Down''s syndrome by NIPT.NIPT was screening test which is effective and noninvasive in prenatal diagnosis.Amniotic fluid Chromosomal karyotype analysis was the gold standard in the diagnosis of fetal chromosomal disease.

Microarray analysis of micro-ribonucleic acid expression in primary immunoglobulin A nephropathy

To explore the relationship between immunoglobulin A nephropathy [IgAN] and microRNA [miRNA]. We analyzed the miRNA expression profiles in renal biopsies from 11 IgAN patients and 3 controls at the Kidney Transplantation and Hemo Purification Center of 181 Hospital, China, from May to October 2007, using a mammalian miRNA microarray containing whole human mature and precursor miRNA sequences. This study identified 132 miRNAs in renal samples, of which 35 miRNAs up-regulated in IgAN biopsies. The chip results were confirmed by northern blot analysis and by quantitative real-time polymerase chain reaction [RT-PCR] tests. Our study may help clarify the molecular mechanisms involved in the pathogenesis of IgAN, and miRNAs potentially serve as a novel diagnostic biomarker of IgAN

Differential expression of microRNAs in transplanted kidney undergoing chronic rejection / 解放军医学杂志

Objective To investigate the differential expression of microRNAs(miRNAs) in transplanted kidney undergoing chronic rejection by the technique of RNA microarray.Methods Four biopsy specimens from transplanted kidney undergoing chronic rejection were harvested as test group(CR),and 3 biopsy specimens were obtained from normal renal cortex as normal control group(NC).Total RNA of each sample was extracted using Trizol reagent.miRNAs were isolated and differential expression of miRNAs were screened by miRNA array analysis.The results of miRNA array were validated by RT-PCR.The quantity and quality of all the RNA samples were checked by gel electrophoresis and absorbance at A260/280,respectively.Results It was confirmed that the isolated RNA was of appropriate quality.The results of miRNA array analysis showed that there were 63 differential expression miRNAs in CR group,of which 35 were up-regulated and 28 down-regulated.There were 9 differential expression miRNAs which distributed in 3 gene clusters: 14q32.31,22q11.21 and xq27.3.The miRNAs hsa-miR-637,hsa-miR-648 and hsa-miR-516-5p were randomly selected for relative quantification by real-time PCR.It was showed that the expression ratios of hsa-miR-637,hsa-miR-648 and hsa-miR-516-5p in AR/NC,when detected by RT-PCR,were 0.034,2.670 and 7.846,while the ratios were 0.035,2.660 and 7.857 when analyzed by miRNAs array.The results from two methods were not significantly different,so the method of miRNAs array was reliable.Conclusions It is notable that the differential expression of miRNAs existed in the transplanted kidney undergoing chronic rejection.miRNAs might be helpful in protecting the patients undergoing kidney transplantation against chronic rejection.