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.

Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review.

Purpose: Complex chromosomal rearrangements (CCRs) often remain unidentified as they are rarely observed in the general population. Females with CCRs are generally recognized on the identification of an affected child with multiple congenital anomalies (MCA) or having a history of repeated pregnancy loss/bad obstetric history (RPL/BOH). In contrast, males with CCRs are diagnosed primarily due to infertility.

Use of Biomarkers in Nutrition Intervention Studies of Children: A Scoping Review.

Obesity in youth is an increasingly prevalent public health concern worldwide. Lifestyle interventions aim to help participants establish healthy habits and reduce obesity-related disease risk by targeting physical activity and dietary habits. Most studies assess weight loss, but biomarkers may enable more rapid and comprehensive assessment of intervention success.