Endoscopic findings and clinicopathologic characteristics of colonic schistosomiasis:A report of 46 cases

AIM:To make a retrospective analysis of endoscopy findings and clinicopathologic characteristics of colonic schistosomiasis in order to further improve our understanding of the disease and decrease its misdiagnosis. METHODS:Endoscopy findings and clinicopathologic characteristics of 46 intestinal schistosomiasis patients were retrospectively analyzed.All the patients underwent colonoscopy and all biopsy specimens stained with hematoxylin and eosin were observed under a light microscope. RESULTS:Of the 46 colonic schistosomiasis patients,1 was diagnosed as acute schistosomal colitis,16 as chronic schistosomal colitis and 29 as chronic active schistosomal colitis according to their endoscopic findings and pathology.Not all patients were suspected of or diagnosed as colonic schistosomiasis.Of the 12 misdiagnosed patients,4 were misdiagnosed as ulcerativecolitis,1 as Crohn's disease,and 7 as ischemic colitis.The segments of rectum and sigmoid colon were involved in 29 patients(63.0%) .Intact Schistosoma ova were deposited in colonic mucosa accompanying infiltration of eosinocytes,lymphocytes,and plasma cells in acute schistosomal colitis patients.Submucosal fibrosis was found in chronic schistosomal colitis patients.Among the 17 patients with a signal polyp,hyperplastic polyp,canalicular adenoma with a low-grade intraepithelial neoplastic change,tubulovillous adenoma with a highgrade intraepithelial neoplastic change were observed in 10,5,and 2 patients,respectively.Eight out of the 46 patients were diagnosed as colonic carcinoma. CONCLUSION:Endoscopy contributes to the diagnosis of colonic schistosomiasis although it is nonspecific. A correct diagnosis of colonic schistosomiasis can be established by endoscopy in combination with its clinicopathologic characteristics.

Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility:a case-control analysis

The BRCA1 Associated RING Domain(BARD1) gene has been identified as a high penetrance gene for breast cancer, whose germline and somatic mutations were reported in both non-BRCA1/2 hereditary site-specific and sporadic breast cancer cases. BARD1 plays a crucial role in tumor repression, along with its heterodimeric partner BRCA1. In the current study, we tested the hypothesis that common non-synonymous polymorphisms in BARD1 are associated with breast cancer susceptibility in a case-control study of 507 patients with incident breast cancer and 539 frequency-matched cancer-free controls in Chinese women. We genotyped all three common(minor allele frequency (MAF) > 0.10) non-synonymous polymorphisms(Pro24Ser, Arg378Ser, and Val507Met) in BARD1. We found that the BARD1 Pro24Ser variant genotypes(24Pro/Ser and 24Ser/Ser) and Arg378Ser variant homozygote 378Ser/Ser were associated with a significantly decreased breast cancer risk, compared with their wild-type homozygotes, respectively. Furthermore, a significant locus-locus interaction was evident between Pro24Ser and Arg378Ser (P-int = 0.032). Among the 378Ser variant allele carriers, the 24Pro/Pro wild-type homozygote was associated with a significantly increased breast cancer risk (adjusted OR = 1.81, 95% CI = 1.11-2.95), but the subjects having 24Pro/Ser or Ser/Ser variant genotypes had a significantly decreased risk(adjusted OR = 0.74, 95% CI = 0.56-0.99). In stratified analysis, this locus-locus interaction was more evident among subjects without family cancer history, those with positive estrogen receptor (ER) and individuals with negative progesterone receptor(PR). These findings indicate that the potentially functional polymorphisms Pro24Ser and Arg378Ser in BARD1 may jointly contribute to the susceptibility of breast cancer.