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Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genome sequencing (GS) is reshaping newborn screening (NBS) by enabling the early detection of a broader range of rare, treatable and/or actionable disorders. In the context of rapid therapeutic advances, international pilot programs-many coordinated within the International Consortium on Newborn Sequencing (ICoNS)-are evaluating genome-based NBS (gNBS) as a preventive public health strategy.
www.ncbi.nlm.nih.gov

Bladder Tumor Location Matters: Trigone and Bladder Neck Involvement Predict Worse Oncological Outcomes in High-Grade Non-Muscle-Invasive Bladder Cancer.

We aimed to evaluate the impact of bladder tumor location on oncological outcomes in high-grade non-muscle-invasive bladder cancer (NMIBC).
www.ncbi.nlm.nih.gov