RESUMO
BACKGROUND: Acute appendicitis (AA) has a prevalence of 8% in the general population with a rate of complicated (perforated) appendicitis (CA) up to 40%. Serum fibrinogen may serve as an indicator for CA. PATIENTS AND METHODS: 115 patients were included from January 2012 to December 2012 using a positive pathology report for AA as a gold standard diagnostic method. We divided the patients into two groups accordingly to the pathology report: Complicated Appendicitis and Uncomplicated Appendicitis (UA). Our primary endpoint was to compare the levels of serum fibrinogen between the two groups and find if there is a relationship between fibrinogen level and CA. RESULTS: 68 patients were diagnosed with UA and 47 with CA. Using a fibrinogen value of 885 mg/dl we found to be the best cut-off for predicting complicated appendicitis with a sensitivity of 86.77% (76.87-93.71 IC 95%), a specificity of 91.49 (83.51-99.46 IC 95%), a positive predictive value of 93.65 (95% CI 86.81-99.64) and, a negative predictive value of 82.69 (95% CI 65.73-87.84). CONCLUSION: In the setting of a patient with a clinical diagnosis of AA, this study demonstrates fibrinogen as a good predictor factor for appendiceal perforation.
Assuntos
Apendicite/diagnóstico , Fibrinogênio/análise , Doença Aguda , Adolescente , Adulto , Apendicite/sangue , Biomarcadores/sangue , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Sensibilidade e Especificidade , Adulto JovemRESUMO
We analyzed a possible association between RUNX3 gene polymorphisms and haplotypes in Mexican patients with colorectal cancer (CRC). Genomic DNA samples were obtained from the peripheral blood of 176 Mexican patients with CRC at diagnosis and from 195 individuals that formed the control group. The polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism. Association was estimated by odds ratio (OR). The haplotypes and linkage disequilibrium were established using the Arlequin v3.5 software. We found that the RUNX3 polymorphisms analyzed were in Hardy-Weinberg equilibrium. The RUNX3 rs2236852 AA genotype and A allele showed association with CRC (OR = 0.39, 95%CI = 0.21-0.73, P < 0.01; OR = 0.65, 95%CI = 0.49-0.87, P < 0.01, respectively), while the rs6672420, rs11249206, and rs760805 polymorphisms did not show significant association with CRC. The TA haplotype (SNPs rs760805 and rs2236852) showed an increased risk for CRC (OR = 2.52, 95%CI = 1.47-4.30, P < 0.001). In conclusion, we found that the AA genotype and A allele of rs2236852 polymorphism confer a decreased CRC risk, while the TA haplotype appears to increase the risk of CRC development in Mexican patients.
Assuntos
Neoplasias Colorretais/genética , Subunidade alfa 3 de Fator de Ligação ao Core/genética , Predisposição Genética para Doença , Haplótipos , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Estudos de Casos e Controles , Feminino , Humanos , Masculino , México , Pessoa de Meia-Idade , Razão de Chances , Fatores de Risco , Adulto JovemRESUMO
The ZNF217 gene, a potential oncogene amplified and overexpressed in several cancers including colorectal cancer (CRC), acts as a transcription factor that activates or represses target genes. The polymorphisms rs16998248 (T>A) and rs35720349 (C>T) in coronary artery disease have been associated with reduced expression of ZNF217. In this study, we analyzed the 2 polymorphisms in Mexican patients with CRC. Genotyping of rs16998248 and rs35720349 sites was performed by polymerase chain reaction-restriction fragment length polymorphism in 203 Mexican Mestizos, 101 CRC patients, and 102 healthy blood donors. Although no statistical differences regarding genotype and allele frequencies of ZNF217 polymorphisms were observed (P > 0.05), linkage disequilibrium was significant in CRC patients (r(2) = 0.39, P < 0.0001), as a result of reduced AC haplotype frequency. Thus, the AC haplotype may protect against CRC.
Assuntos
Carcinogênese/genética , Neoplasias Colorretais/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Transativadores/genética , Estudos de Casos e Controles , Frequência do Gene/genética , Humanos , MéxicoRESUMO
Colorectal cancer (CRC) is characterized by enhanced expression and activity of several metalloproteinases (MMPs), including MMP13 and MMP7, which play an important role in tumor invasion and metastasis. The objective of this study was to analyze the association of functional MMP7-181A/G and MMP13-77A/G promoter polymorphisms with susceptibility to CRC in a Mexican population. Genomic DNA samples were obtained from peripheral blood of 102 CRC patients and 125 blood donors who were included as the control group. Identification of polymorphisms was based on polymerase chain reaction-restriction fragment length polymorphism methodology. The association was estimated by the odds ratio (OR) test. The results showed that MMP7-181A/G and MMP13-77A/G variants were associated with CRC. For MMP7-181A/G, the AA (P=0.02, OR=3.38, 95% confidence interval (CI)=1.16-9.84) and AG (P=0.01, OR=3.4, 95%CI=1.17-9.83) genotypes were associated with an increased risk of CRC. For MMP13-77A/G, the AA and AG genotypes were associated with CRC (AA genotype: P=0.04, OR=3.2, 95%CI=1.004-10.2; AG genotype: P=0.01, OR=4.08, 95%CI=1.3-13.07). In conclusion, AA and AG genotype carriers for both polymorphisms are at a higher risk of developing CRC in this Mexican population.
