Background. Breast cancer is the most common malignancy in women. Genetic risk factors associated with breast cancer incidence have been identified. Aims. This study is aimed at determining the association of XRCC3 Thr241Met (rs861539), XRCC4 G(-1394) T (rs6869366) DNA repair and BAX G(-248) A (rs4645878), and BCL2 C(-938) A (rs2279115) apoptotic gene polymorphisms with breast cancer. Materials and Methods. Genetic analysis was performed using peripheral blood samples. Gene polymorphisms were detected by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. 175 patients and 158 healthy controls were enrolled in the study. Results. Breast cancer risk was 5.43 times more in individuals with AA genotype of Bax G(-248) A (rs4645878) ( ). The risk of metastasis was 11 times with this genotype. It was associated with 6 times more risk of having a tumor larger than 2 cm. The risk of breast cancer was 2.77 times more in individuals carrying the Met/Met genotype of XRCC3 Thr241Met (rs861539) ( ). The risk of having advanced clinical stage (stage III+IV) with the Met/Met genotype was 4 times more increased. No relationship with breast cancer was found with XRCC4 G(-1394) T (rs6869366) and BCL2 C(-938) A (rs2279115) gene polymorphisms. Conclusion. Multicenter trials using subjects with genetic variations are needed to establish the relationship between breast cancer and single gene polymorphism.
Inguinal and incisional hernias are the two most common types of hernias caused by abdominal wall weakness and defects in connective tissue. The structure of the extracellular matrix, mainly collagen and metalloproteinases (MMPs), and their regulators have been studied extensively and found to play a significant role in the pathophysiology of hernias. One of the regulators of MMPs, tissue inhibitor metalloproteinases (TIMPs), bind to MMPs and inhibit its activity significantly shifting the balance towards collagen synthesis rather than degradation. Due to their importance in collagen metabolism, their metabolism might be significant in the aetiology of hernias. Our study used immunohistochemical techniques to investigate the possible effects of TIMP 1 and 2 on the samples taken from the abdominal walls of patients with inguinal and incisional hernias, compared them with control patients, and reviewed the literature. In this study, samples of 90 patients (30 patients from control, inguinal hernia, and incisional hernia groups) were taken and analysed. These samples were stained with TIMP‐1 Ab‐2 and TIMP2 Ab‐5 (Clone 3A4) antibodies and evaluated under ×100 magnification. The degree of staining was classified as (a): No staining (0), (b): Staining less than 10% (I), (c): Staining between 10% and 50% (II), (d): Staining more than 50% (III). Statistical analyses were done. No significant difference was found between groups in terms of patient demographics. Smoking and family history of hernia was not found to be associated with TIMP expression. TIMP1 expression was significantly higher in the incisional and inguinal hernia group than in the control group (P < .05), while the level of TIMP2 was higher in the control group. (P < .05). TIMP1 and TIMP2 levels did not significantly differ between incisional and inguinal hernia groups. We found significantly increased TIMP‐1 levels in tissue samples from patients with hernia supporting its suggested role in hernia pathophysiology. Local alterations in MMP and TIMP levels might play a role in the pathogenesis of hernias. Thus detection of TIMP in tissues can be important for clinical use after further validation studies. In the era of molecular medicine, detecting TIMP levels in hernia patients can impact clinical practice.
7 September 2024 in International Journal of Colorectal Disease
Introduction Ileostomy, frequently created after colorectal resections, hinders the physiologic function of the colon and can lead to dehydration and acute kidney injury due to high stoma outputs. This study aimed to evaluate the effectiveness of preventive measures on ileostomy-induced dehydration and related readmissions in a high-volume unit. Methods In this prospective cohort study at a high-volume colorectal surgery department in Turkiye, the Prospective Ileostomy-induced Dehydration Prevention Bundle Project (PIDBP) was assessed from March 2021 to March 2022. The study enrolled patients undergoing colorectal surgery with ileostomy and involved comprehensive inpatient stoma care, education, and a structured post-discharge follow-up. The follow-up included the “Hydration follow-up scale” to monitor ileostomy output and related complications. The primary outcome was the readmission rate due to dehydration-related complications. The patients receiving the bundle intervention were compared with patients treated in the preceding year, focusing on the effectiveness of interventions such as dietary adjustments, fluid therapy, and pharmacological management. Results In the study, 104 patients were analyzed, divided into 54 pre-bundle and 50 bundle group patients, with no significant differences in patient characteristics. While the overall readmission rate due to dehydration was 12.5%, a significant reduction in dehydration-related readmissions was observed in the bundle group compared to the pre-bundle group (2% vs. 22%, p = 0.002). Univariate analysis identified high stoma output (> 800 ml/24 h) (p < 0.001), chronic renal failure (CRF) (p = 0.01), postoperative ileus (p = 0.03), higher ASA status (p = 0.04), extended hospital stays (p = 0.03), and small bowel resections (especially in J-pouch patients) (p < 0.001) as significant predictors of readmission. Multivariate analysis revealed that the mean ileostomy output before discharge was the sole significant predictor of dehydration-related readmission (OR 1.01), with an optimal cutoff of 877.5 ml/day identified with an area under the curve (AUC) of 0.947, demonstrating high sensitivity (92.3%) and specificity (86.8%) in predicting readmission risk. Conclusion The Prospective Ileostomy-induced Dehydration Prevention Bundle Project significantly reduced readmission rates after colorectal surgery.