ABSTRACT
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease caused by germline mutation in Adenomatous Polyposis Coli (APC) gene. FAP accounts less than 1% of all colorectal cancers incidence. Patients generally present hundreds to thousands of adenomas in colon and rectum and develop colorectal cancer by age 35 - 40 if left untreated. A milder form of FAP with fewer numbers of polyps (< 100) is Attenuated FAP (AFAP) and in comparison with classical FAP, it usually diagnosed at an older age. Approximately 15% - 20% of FAP patients are ''de novo'' cases without any family history of the disease and novel APC mutations account for approximately 25% of FAP cases. In our study, we reported a novel missense mutation at the APC gene in a denovo patient with AFAP like phenotype.
Subject(s)
Adenoma/pathology , Adenomatous Polyposis Coli/genetics , Genes, APC , Germ-Line Mutation , Mutation, Missense , Child , Endoscopy , Female , Humans , PhenotypeABSTRACT
BACKGROUND: Colorectal cancer (CRC) is the second cause of cancer-related deaths worldwide. There have been several studies reporting the proximal tumor shift, especially in Western countries. In the present study, we investigated the clinicopathologic and anatomical distributions of colorectal tumors in Iranian CRC patients. MATERIALS AND METHODS: In this retrospective cohort study, 258 patients with CRC from 2008 to 2013 were evaluated. Comparison of variables was performed using Pearson's chi-square test and Fisher's exact test depending on the nature of the data. RESULTS: A total of 258 patients including 124 (48.1%) females and 134 (51.9%) males enrolled in this study. The majority of cancers were detected in the rectosigmoid, i.e., 98 (38%) followed by the left colon, i.e., 84 (32.6%) and the right colon, i.e., 76 (29.5%). In the present study, we observed the significant association between metastases, adjuvant therapy, family history, and history of inflammatory bowel disease (IBD) with tumor, node, and metastasis (TNM) staging (P < 0.001). In univariate analysis, there was a strong association between overall survival (OS) and stage II CRC (P = 0.03). However, the predictive value was lost in multivariate analysis (P = 0.145). CONCLUSION: Unlike the majority of previous studies on Iranian CRC patients, we observed a considerably higher occurrence of right-sided colon cancers (84 versus 76). Although this phenomenon did not reach the statistical significance rate, based on recent studies on Iranian population including the present one, the pattern of anatomical distribution of colorectal tumors has been changed toward the proximal colon. This requires an urgent need to provide other strategies and complementary detecting approaches in order to identify proximal tumors in Iranian CRC patients.
ABSTRACT
BACKGROUND: Despite efforts to maintain the intestinal tissue and treat gastrointestinal disease, a large number of patients undergo ostomy surgery each year. Using stoma reduces the patient's quality of life (QOL) greatly. Although there are approximately 3000 patients in Iran; there is little information about the impact of stoma on their QOL. AIMS: The study aims to evaluate QOL of stoma patients using a special measurement tool. SETTINGS AND DESIGN: This survey was a cross-sectional study that was conducted on 102 random samples of stoma patients. MATERIALS AND METHODS: The City of Hope Quality of Life-Ostomy Questionnaire was used for collecting demographic and clinical information and evaluating QOL. STATISTICAL ANALYSIS USED: Univariate and multiple regression analyses were performed to identify predictors of QOL. RESULTS: The mean score for the overall QOL for stoma patients was 7.48 ± 0.9. 70% of patients were dissatisfied with sexual activities. More than half of them reported feelings of depression following stoma surgery. Univariate analysis indicated that factors such as the type of ostomy (temporary/permanent), the underlying disease that had led to the stoma, depression, problem with location of ostomy, and change in clothing style had significant effects on overall QOL and its subscales (P < 0.05). The results of the regression analyses showed that only depression and problem with the location of ostomy were statistically significant in predicting patients' QOL and its subscales (P < 0.05). CONCLUSIONS: The findings demonstrated that living with stoma influences the overall aspect of QOL. Education for the patients and their families is important for improving the stoma patients' QOL. Sexual and psychological consultation may also improve patients' QOL.
