Inge Søkilde Pedersen

Abstract Constitutional methylation of the MLH1 promoter is a rare cause of Lynch Syndrome likely to be overlooked in daily clinical practice, as MLH1 methylation is common in sporadic tumors. We present four unrelated Danish and Australian patients with Lynch syndrome phenotypes and constitutional MLH1 methylation including two patients with methylation levels indicating mosaicism.

Abstract Background Chronic pancreatitis (CP) is an inflammatory disease characterized by pain, functional deficits and increased mortality. The clinical course is unpredictable, and there are no classification systems or biomarkers to predict this. Identifying patients with high mortality risk is crucial for guiding clinical management and improving outcomes.

Carriers of m.3243A>G frequently report gastrointestinal symptoms; the underlying mechanisms driving the symptoms remain, however, poorly understood. This study utilized the wireless motility capsule, SmartPill, to evaluate gastrointestinal dysmotility in m.3243A>G carriers, revealing delayed gastric emptying and prolonged colonic transit time, and decreased motility index in the colon.