RESUMEN
BACKGROUND: The X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2) is an important protein in response to DNA double-strand breaks (DSBs) in human cells. XRCC2, as a functional protein in the homologous recombination repair (HRR) process, has been identified to have several polymorphisms which might be associated with the risk of cancer. Therefore, we aimed to investigate a novel missense variation (AGC>AGG, p.Ser150Arg) in the XRCC2 gene for colorectal cancer susceptibility. METHODS: We studied 291 colorectal cancer (CRC) patients and 140 healthy individuals. ARMS PCR method was used to detect the AGC>AGG (p.Ser150Arg) variation in the XRCC2 gene. RESULTS: The results showed that there was a significant differential among CRC and controls in the genotypic and allelic frequencies (p < 0.001) of XRCC2; AGC>AGG, p.Ser150Arg. Our results demonstrated that the G allele of XRCC2; AGC>AGG, p.Ser150Arg was associated with increased CRC risk (odds ratio = 59.04, 95% confidence interval = 18.6 - 186). This variation also influenced CRC cancer susceptibility in smokers (p < 0.001). CONCLUSIONS: The G allele of XRCC2; AGC>AGG, p.Ser150Arg, may be a potential marker for CRC in Iranians and investigations in other populations are warranted for further universal application in CRC detection and prediction.
Asunto(s)
Neoplasias Colorrectales/genética , Proteínas de Unión al ADN/genética , Predisposición Genética a la Enfermedad/genética , Mutación Missense , Polimorfismo de Nucleótido Simple , Anciano , Alelos , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Irán , Masculino , Persona de Mediana Edad , Factores de RiesgoRESUMEN
INTRODUCTION: Valvular heart disease presents a significant and escalating global health challenge. Prosthetic valve thrombosis (PVT) following surgical valve replacement is a primary cause of valve failure. The aim of this study was to ascertain the outcomes and complications of fibrinolytic therapy in patients diagnosed with PVT. METHOD: This cross-sectional study enrolled 81 patients diagnosed with PVT who underwent fibrinolytic therapy between 2008 and 2018. Streptokinase was administered to 87.6% of patients, while 12.4% received reteplase. All demographic and clinical data were gathered from the patients' medical records. The incidence of successful recovery and complications were assessed. RESULTS: The records of 81 patients (43.2% male, mean age: 51.6 ± 13.9 years) were examined. The findings revealed that 59% and 35% of the patients had mitral and aortic PVT, respectively. While 12% of the patients experienced drug complications, 90% achieved successful recovery. Stroke and severe hemorrhage were complications frequently reported by the patients treated with streptokinase (8% and 4% respectively). The patients treated with reteplase demonstrated a 100% recovery rate. Conversely, 89% of the patients treated with streptokinase achieved successful recovery, and 7% of the patients experienced a partial recovery. CONCLUSION: Fibrinolytic agents can serve as an effective treatment with an excellent success rate for managing PVT in patients post-surgical valve replacement.