Articles related to Medical Genetics

A study of 107 pregnant or postpartum persons with unusual prenatal cfDNA screening results found that specific genomic patterns—particularly the presence of copy-number gains and losses across three or more chromosomes—were associated with occult cancer in 95.9% of cases, suggesting potential new criteria for risk stratification.

Poor metabolizers of UGT1A1 face a significantly increased risk of severe neutropenia from irinotecan therapy, making genetic testing crucial for appropriate dose modification.

The presence of hypophosphatemic rickets with elevated FGF23 levels in conjunction with classical features provides crucial diagnostic insights for clinicians evaluating pediatric bone disorders.

Large-scale analysis of 5.1 million individuals reveals distinct correlations between blood types and 49 different diseases, offering new perspectives for risk assessment in clinical practice.

Recent research suggests microbiome composition may serve as a predictor for ASD, opening new avenues for diagnostic approaches and therapeutic interventions.

Bevacizumab therapy demonstrated marked improvement in both epistaxis severity and abdominal symptoms, despite unchanged radiographic appearance of hepatic AVMs, suggesting therapeutic benefit at the microvasculature level.