RESUMO
Congenital heart disease in children is a type of birth defect. Previous studies have suggested that the transcription factor, TBX20, is involved in the occurrence and development of congenital heart disease in children; however, the specific regulatory mechanisms are yet to be evaluated. Hence, this study aimed to evaluate the relationship between the TBX20 polymorphism and the occurrence and development of congenital heart disease. The TBX20 gene sequence was obtained from the NCBI database and the polymorphic locus candidate was predicted. Thereafter, the specific gene primers were designed for the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) of DNA extracted from the blood of 80 patients with congenital heart disease and 80 controls. The results of the PCR were subjected to correlation analysis to identify the differences between the amplicons and to determine the relationship between the TBX20 gene polymorphism and congenital heart disease. One of the single nucleotide polymorphic locus was found to be rs3999950: c.774T>C (Ala265Ala). The TC genotype frequency in the patients was higher than that in the controls, similar to that for the C locus. The odds ratio of the TC genotypes was above 1, indicating that the presence of the TC genotype increases the incidence of congenital heart diseases. Thus, rs3999950 may be associated with congenital heart disease, and TBX20 may predispose children to the defect.
Assuntos
Cardiopatias Congênitas/genética , Polimorfismo de Nucleotídeo Único , Proteínas com Domínio T/genética , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Humanos , MasculinoRESUMO
We examined the relationship between type 2 diabetes and skin wound healing. GSE38396 was downloaded from the Gene Expression Omnibus database and preprocessed using the RMA function of the Affy package. Differentially expressed genes (DEGs) were identified using the limma package, then DAVID was applied to per-form Gene Ontology functional annotation and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis. MicroRNAs and their target genes were screened from the miRecords database and subjected to functional analysis. Finally, the STRING online database was applied to identify the protein-protein interaction relationships, and a combined score > 0.5 was considered to indicate an interaction. A total of 421 DEGs (208 upregulated and 213 downregulated genes) were identified in the skin lymphatic endothelial cells of patients with type II diabetes. Twenty-four microRNAs and 34 target genes were screened, including those involved in cell migration, regulation of cell proliferation, cell death, and cell adhesion regulation, among others. Protein-protein interaction network clustering analysis identified a module composed of 25 genes, and INTERPRO protein domain enrichment analysis showed that the protein domain of the clustering module main-ly contained the insulin-like growth factor binding proteins IGFBP3 and CYR61. IGFBP3 and CYR61 may play important roles in skin wound healing in diabetes patients. This information may be useful for developing methods to treat skin refractory wounds in type II diabetes.
Assuntos
Biologia Computacional , Diabetes Mellitus Tipo 2/fisiopatologia , Pele/fisiopatologia , Cicatrização , Diabetes Mellitus Tipo 2/genética , Humanos , MicroRNAs/genéticaRESUMO
Although radical nephrectomy alone is widely accepted as the standard of care in localized treatment for renal cell carcinoma (RCC), it is not sufficient for the treatment of metastatic RCC (mRCC), which invariably leads to an unfavorable outcome despite the use of multiple therapies. Currently, sequential targeted agents are recommended for the management of mRCC, but the optimal drug sequence is still debated. This case was a 57-year-old man with clear-cell mRCC who received multiple therapies following his first operation in 2003 and has survived for over 10 years with a satisfactory quality of life. The treatments given included several surgeries, immunotherapy, and sequentially administered sorafenib, sunitinib, and everolimus regimens. In the course of mRCC treatment, well-planned surgeries, effective sequential targeted therapies and close follow-up are all of great importance for optimal management and a satisfactory outcome.
RESUMO
Although radical nephrectomy alone is widely accepted as the standard of care in localized treatment for renal cell carcinoma (RCC), it is not sufficient for the treatment of metastatic RCC (mRCC), which invariably leads to an unfavorable outcome despite the use of multiple therapies. Currently, sequential targeted agents are recommended for the management of mRCC, but the optimal drug sequence is still debated. This case was a 57-year-old man with clear-cell mRCC who received multiple therapies following his first operation in 2003 and has survived for over 10 years with a satisfactory quality of life. The treatments given included several surgeries, immunotherapy, and sequentially administered sorafenib, sunitinib, and everolimus regimens. In the course of mRCC treatment, well-planned surgeries, effective sequential targeted therapies and close follow-up are all of great importance for optimal management and a satisfactory outcome.
RESUMO
Survivin and vascular endothelial growth factor (VEGF) are newly discovered tumor markers closely correlated with bladder cancer. We analyzed the expression of survivin and VEGF in paraffin-embedded tumor tissues from 78 patients with bladder transitional cell carcinoma (BTCC) using an immunohistochemistry method. Normal bladder mucosae from 10 non-BTCC cases were also included as a control group. All patients were closely followed up for tumor recurrence after undergoing transurethral resection of bladder tumor procedures. The positive expression rates of survivin and VEGF in superficial BTCC were 66.7% (52/78) and 69.2% (54/78), respectively, which were significantly higher than those in the control group, 0% (0/10). A positive correlation was found between survivin and VEGF expression (r = 0.283, P < 0.01). Thirty-two of 78 patients (41.0%) displayed recurrence during follow-up (median: 47; range: 7-62 months). The tumor recurrence rate in survivin(+) patients was 53.8% (28/52), which was significantly higher than that in survivin(-) patients [15.4% (4/26); P < 0.05]. The recurrence rate in VEGF(+)/ VEGF(-) patients was 50.0% (27/54) and 20.8% (5/24), respectively (P < 0.05). The sensitivity for predicting the relapse of superficial BTCC was 87.5% in the survivin(+) group, 84.4% in the VEGF(+) group, and 78.1% in the survivin(+)/VEGF(+) group, and the specificity was 47.8, 41.3, and 65.2%, respectively. Survivin and VEGF interact and jointly regulate the biological behavior of bladder cancer. Our results suggest that overexpression of survivin and VEGF accompany a higher risk of BTCC recurrence, making survivin and VEGF biomarkers for predicting the relapse of bladder cancer.