Survival of familial adenomatous polyposis coexistence colorectal cancer in Iran.

CONTEXT: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder. Colorectal cancer (CRC) has been implicated as the most common cause of death in FAP patients, especially in those with coexisting CRC at initial diagnosis (FAP-CRC). AIM: We aimed to determine the survival rate of FAP-CRC and the factors affecting FAP-CRC survival. SETTING AND DESIGN: This was a retrospective cohort FAP study conducted in northwest Iran. SUBJECTS AND METHODS: From 2006 to 2016, 51 FAP-CRC individuals were selected from among 4588 CRC patients. STATISTICAL ANALYSIS: A Student's t-test, life table method, log-rank tests, a Kaplan-Maier survival curve, and Cox regression analysis were performed and a value of P < 0.05 was set as statistically significant. RESULTS: A total of 51 FAP-CRC patients were selected, (30 males and 21 females), with a mean age of 42.2 years at diagnosis. The most common presenting symptom was abdominal pain and the most common primary tumor site was the rectum. The 1-, 5- and 10-year overall survival rates were 76%, 59%, and 52%, respectively. Factors affecting the FAP-CRC survival rate, namely, sex, age at CRC diagnosis, and extracolonic manifestations showed no significant differences. The difference in 5-year survival rates between patients with colon and rectal cancers was significant (75% vs. 33%, P = 0.02). The survival rate was significantly higher among patients with disease Stages I and II than those in disease Stages III and IV (P = 0.001). 5-year survival rates in patients with ileal pouch-anal anastomosis and ileorectal anastomosis were 71% and 78%, respectively (P = 0.001). There was an interesting difference in survival between FAP and attenuated FAP (P = 0.01). In cox regression analysis, distant metastasis was a significant predictor of survival (P = 0.001). CONCLUSIONS: Long-term survival from FAP-CRC remains poor; therefore, early-stage detection and the choice of an appropriate surgical method can improve survival in such patients.

Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.

OBJECTIVE: Mutations in GJB2 and GJB6 which comprise DFNB1 locus cause up to half of all cases of the prelingual autosomal recessive non-syndromic hearing loss (ARNSHL) worldwide. This study has intended to assess the spectrum and frequency of GJB2/GJB6 mutations in northwest of Iran. METHODS: 508 Patients with presumed ARNSHL were analyzed by applying ARMS-PCR, SSCP, PCR-RFLP and sequencing assays. RESULTS: Seventy-five (14.7%) different homozygous and eighty-seven (17.1%) different compound heterozygous genotypes were detected in this cohort. Concerning the GJB2 gene, c.35delG was the most prevalent mutation, accounting for 16.4% of the samples. In addition 29 sequence variations other than c.35delG mutation were distinguished in GJB2; namely, delE120, Ins A 290-291, R143Q, V37I, R32H, Y155X, V27I + T123N, F154F, 167delT, 312del14, 299-300delA, T8M, W24X, E114G + V27I, 235delC, R184P, V153I, S139N, A171T, M163V (unknown mutation), G127V, E147X, R127H, 35insG, R143W, V27I, G160S, E114G and IVS1 + 1G > A. Moreover, the IVS1 + 1G > A was accounted as a second common mutation. CONCLUSIONS: Overall, the frequency of GJB2 mutations (≥31%) is in agreement with other white population. These findings highlight the importance of the study of GJB2 gene in the diagnosis to provide early treatment and genetic counseling.

Effect of the C3435T polymorphism of the multidrug resistance 1 gene on the severity of inflammatory bowel disease in Iranian Azeri Turks.

BACKGROUND/AIM: Multidrug resistance 1 (MDR1) gene encodes for P-glycoprotein (P-gp), a transmembrane efflux pump transferring both exogenous and endogenous substrate from the cells. In the human gastrointestinal tract, P-gp is found in high concentrations on the epithelial cells of the colon and small intestine. It is hypothesized that the expression level of MDR1 gene is related to susceptibility of both forms of inflammatory bowel disease (IBD). The aim of this study was to investigate the association of C3435T Single Nucleotide Polymorphism in IBD patients with/without clinical symptoms in Iranian Azeri Turks. SETTINGS AND DESIGN: A total of 116 patients with IBD and 92 healthy subjects were analyzed. MATERIALS AND METHODS: We investigated the distribution of MDR1 C3435T polymorphism via polymerase chain reaction - Restriction Fragment Length Polymorphism technique. STATISTICAL ANALYSIS USED: All statistical analyses were calculated with the SPSS for Windows 16.0. The Fisher exact test was used to test for departure from Hardy-Weinberg equilibrium of the genotype frequencies ( P > 0.05). RESULTS: The data showed that IBD patient with homozygous variant carrying MDR1 3435 T/T genotype has elevated risk for development of routine IBD clinical symptoms like Abdominal pain ( P = 0.005) and chronic Diarrhea ( P = 0.013) compared with MDR1 3435 C/C homozygotes who has reduced risk for development of IBD symptoms. CONCLUSIONS: Our data showed that patients with MDR1 3435 T/T are more susceptible to the development of some routine IBD clinical symptoms ( P < 0.05). This study suggests a protective role for the MDR1 3435 C/C versus MDR1 3435 T/Tgenotype and C versus T allele for the progression of IBD in this cohort.