Two independent families with de novo whole APC gene deletion and intellectual disability: a case report.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.

Adenomatous Polyposis Coli Gene Mutations, Risk Factors, and Long-term Outcomes Associated With Desmoid Tumors in Patients With Familial Adenomatous Polyposis After Colectomy in Japan.

Goals: To clarify the characteristics of desmoid tumors in Japanese patients with familial adenomatous polyposis after colectomy.

Background: Few comprehensive reports have been published on desmoid tumors in Asian patients with familial adenomatous polyposis.

Study: This retrospective study included the data of 81 patients with familial adenomatous polyposis who underwent surgery between 1978 and 2021.

Bactericidal effect of far ultraviolet-C irradiation at 222 nm against bacterial peritonitis.

Far ultraviolet-C irradiation at 222 nm has potent bactericidal effects against severe infections such as peritonitis, with minimal cytotoxicity. Bacterial peritonitis due to bowel perforation is a serious condition with high mortality despite current treatments. This study investigated the safety and efficacy of intraperitoneal far ultraviolet-C irradiation at 222 nm.

Myosteatosis Evaluated Based on Intramuscular Adipose Tissue Content Is a Risk Factor for Postoperative Complications in Crohn's Disease.

Background: Crohn's disease causes acute and chronic inflammation that often make the preoperative evaluation of surgical risks difficult. Myosteatosis is used for the evaluation of muscle quality to assess sarcopenia. However, data on the relationship between myosteatosis and surgical outcomes in patients with Crohn's disease are lacking.