BACKGROUND AND AIMS Germline mutations in mismatch repair (MMR) genes cause a greatly increased risk of cancer of the gastrointestinal and female reproductive tracts (hereditary non-polyposis colorectal cancer (HNPCC)). Loss of MMR expression is common in colorectal cancer (CRC) overall. Such loss is assumed to be acquired predominantly, although a population of CRC cases will include individua...

LARGE INTESTINAL OBSTRUCTION may complicate a variety of extracolonic conditions such as pancreatitis, intra-abdominal abscess, adhesions or bands, and metastatic carcinoma. In the following case report, complete acute large intestinal obstruction was the major initial sign of a carcinoma originating in the tail of the pancreas. From Hartford Hospital, Hartford, and University of Connecticut Sc...

Background Hereditary non-polyposis colorectal cancer (HNPCC) is a hereditary cancer syndrome in which confirmed carriers of a gene mutation are at high risk for colorectal (CRC) and extracolonic cancers. The purpose of the current study was to develop a greater understanding of the factors influencing the decision-making of confirmed HNPCC carriers post-genetic testing about screening and dise...

Clostridium difficile is recognized globally as an important enteric pathogen associated with considerable morbidity and mortality due to the widespread use of antibiotics. The overall incidence of C. difficile-associated diarrhea (CDAD) is increasing due to the emergence of a hypervirulent strain known as NAP1/BI/027. C. difficile acquisition by a host can result in a varied spectrum of clinic...

how to cite this article: tavasoli ar, rostami p, ashrafi mr, karimzadeh p. neurological and vascular manifestations of ethylmalonic encephalopathy. iran j child neurol. spring 2017; 11(2):57-60.   abstract objective ethylmalonic encephalopathy (ee) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, a...

Background and aims: Germline mutations in mismatch repair (MMR) genes cause a greatly increased risk of cancer of the gastrointestinal and female reproductive tracts (hereditary non-polyposis colorectal cancer (HNPCC)). Loss of MMR expression is common in colorectal cancer (CRC) overall. Such loss is assumed to be acquired predominantly, although a population of CRC cases will include individu...

The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP) is caused by germline mutations in the tumour suppressor gene APC. Consistent correlations between the site of mutations in the gene and clinical phenotype have been published for different patient groups. We report our experiences of APC mutation analysis and genotype-phenotype correlations in 1166 unrelated pol...

Clostridium difficile is the major aetiological agent of antibiotic associated diarrhoea and colitis. The majority of hospitalized patients infected by C. difficile are asymptomatic carriers who serve as silent reservoirs for continued C. difficile contamination of the hospital environment. C. difficile associated disease (CDAD) is a serious condition with mortality up to 25 per cent in frail e...

MUTYH Associated Polyposis (MAP), a Polyposis predisposition caused by biallelic mutations in the Base Excision Repair (BER) gene MUTYH, confers a marked risk of colorectal cancer (CRC). The MAP phenotype is difficult to distinguish from other hereditary CRC syndromes. Especially from Familial Adenomatous Polyposis (FAP) and to a lesser extend Lynch Syndrome, which are caused by germline mutati...

Familial adenomatous polyposis (FAP) is a dominantly inherited condition caused by germline mutation of the APC gene resulting in formation of numerous large bowel adenomas in late childhood or adolescence. Unless these are removed, colorectal cancer inevitably develops. Prophylactic surgical treatment is required to prevent this. In surgical decision making, considerations should include genot...