Current and Emerging Sedation Practices for Colonoscopy: A Narrative Review of Pharmacological Agents, High-Risk Populations, and Safety Considerations. [PDF]
Chudziński K +3 more
europepmc +1 more source
RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita
Using WGS and RNA analysis, we identified a branch point‐disrupting variant in the PARN gene and elucidated its pathogenic molecular mechanism in a child with atypical dyskeratosis congenita presentation. ABSTRACT Dyskeratosis congenita (DC) is a rare genetic disorder caused by impaired telomere maintenance, leading to diverse clinical manifestations ...
Daria Akimova +3 more
wiley +1 more source
Choice of colon capsule or colonoscopy versus default colonoscopy in FIT positive patients in the Danish screening programme: a parallel group randomised controlled trial. [PDF]
Baatrup G +13 more
europepmc +1 more source
We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya +7 more
wiley +1 more source
Timing and Frequency of Surveillance Colonoscopies After Resection for Colorectal Cancer in Queensland, Australia: A Retrospective 10-Year Analysis. [PDF]
Ho YM, Merollini KMD, Collins LG.
europepmc +1 more source
Limited utility of faecal immunochemical testing in a colorectal cancer screening programme for adults with cystic fibrosis: insights from a prospective UK study. [PDF]
Azam A +8 more
europepmc +1 more source
The establishment of novel severity criteria for intestinal Behçet's disease. ABSTRACT Objective This study aimed to establish a novel severity classification for intestinal Behçet's disease (BD) (SCIBD) and validate its criteria across multiple institutions.
Toshiro Fukui +20 more
wiley +1 more source
Artificial Intelligence in Digestive Endoscopy Training—The Past, Present, and Future
AI may enhance endoscopy training through improved detection, guidance and evaluation, but demands careful implementation, validation and ethical governance to maximize benefits. ABSTRACT Background and Objective Artificial intelligence (AI) is reshaping gastrointestinal endoscopy, yet its role in training remains unexplored.
Jacky C. L. Ho +4 more
wiley +1 more source

