Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort.

Lynch syndrome (LS) is an autosomal dominant hereditary cancer predisposition syndrome whereby the lifetime risk of developing gastrointestinal and genitourinary cancers rises by to over 50%. It is caused by heterozygous variants in the DNA mismatch repair genes- MLH1, MSH2, MSH6 and PMS2, with the majority detected in MLH1 and MSH2. Recurrently observed LS-associated variants in apparently unrelated individuals have either arisen de novo in different families due to mutation hotspots or are inherited from a common ancestor (founder) that lived several generations back.

Sex differences in mitochondrial gene expression during viral myocarditis.

Background: Myocarditis is an inflammation of the heart muscle most often caused by viral infections. Sex differences in the immune response during myocarditis have been well described but upstream mechanisms in the heart that might influence sex differences in disease are not completely understood.

Methods: Male and female BALB/c wild type mice received an intraperitoneal injection of heart-passaged coxsackievirus B3 (CVB3) or vehicle control.

Primitive Myxoid Mesenchymal Tumor of Infancy: A Lost Battle.

Primitive myxoid mesenchymal tumor of infancy (PMMTI) is a low to intermediate-grade, poorly differentiated myofibroblastic tumor and is characterized by its tendency to recur locally. It commonly occurs in the 1 year of life and is predominantly seen in the axial skeleton and rarely in the retroperitoneum. We report one such case of PMMTI, which is the second case reported in English literature.

Canadian female perspectives on training in the boys club: advanced therapeutic endoscopy.

Introduction: Unequal female representation in the field of advanced therapeutic endoscopy (ATE) has been recently highlighted in the United States. Previous attempts to determine the barriers to entry into the career have reported a lack of mentorship, patriarchy, inflexible hours/calls and exposure to fluoroscopy. Canadian trainee exposure to ATE and differences in experience between men and women is unknown.