Patients with adenomatous polyposis have higher risk for colorectal cancer; however causative genes remain unknown in a considerable fraction of these patients. On behalf of his collaborators, Robbert Weren (Nijmegen, Netherlands) presented whole-exome sequencing data from 51 individuals (of 48 families) with adenomatous polyposis. They identified a homozygous germline nonsense mutation in the ...

Filiform polyposis is an uncommon entity that is most often encountered in the colon of patients with a history of inflammatory bowel disease (IBD). We report a case of filiform polyposis occurring in a 71-year-old man with no history, or symptoms of IBD. The patient was found to have numerous polypoid lesions in the ascending and proximal transverse colon endoscopically and underwent hemicolec...

INTRODUCTION: Peutz-Jeghers syndrome (PJS) is a rare (orphan) hereditary disease with family history, primarily characterized by massive polyposis of the gastrointestinal tract and its complications. Every year, registered in 1 patient per 25,000–300,000 population. OBJECTIVE: To demonstrate effectiveness combined use diagnostic radiology endoscopic imaging techniques diagnosis this A case repo...

A proportion of colorectal cancers shows some type of genetic predisposition that can be recognised in clinical practice. From the classical dominant inheritance pattern of familial adenomatous polyposis or hereditary non-polyposis colorectal cancer, through the recessive transmission of the MYH associated polyposis, to the new syndromes of the "serrated pathway" or low-penetrance alleles, the ...

An unusual case of endobronchial polyposis associated with extensive bronchiectasis in the context of cystic fibrosis (CF) has been described. A 15-yr-old female patient with CF underwent partial pneumonectomy for extensive bronchiectasis and frequent infective pulmonary exacerbations. Cylindrical bronchiectasis with associated purulent bronchitis and bronchiolitis, together with inflammatory p...

Nasal polyp causes difficulty in breathing due to blockage of nasal passage. The pathogenesis of nasal polyposis is not known. The primary medical therapy available for nasal polyposis is steroid administration. Antihistamines, decongestants and cromolyn sodium provide little benefit. With this background of nasal polyp pathophysiology and the existing management, a case of nasal polyp was trea...

Bowel habit has been studied in a group of 92 outpatients with ileorectal anastomosis for ulcerative colitis and compared with that in a group of 45 outpatients with ileorectal anastomosis for colonic polyposis. Bowel frequency ranged from 1-7 to 8-7 stools per 24 hours with a mean of 4-5 in the colitic group compared with a range of 1-3 to 8-1 stools per 24 hours and a mean of 3-5 in the polyp...

BACKGROUND Genetic mutation is a significant factor in colon CA pathogenesis. Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by multiple colorectal adenomatous polyps affecting a number of cases in the family. This report focuses on a family with attenuated familial adenomatous polyposis (AFAP) with exon 4 mutation, c.481C>T p.Q161X of the APC gen...