Heather M. Byers

TL;DR: Validation and replication in other populations, and incorporation of other measures that identify PTB risk, like cervical length, can be a step toward identifying additional women who may benefit from new or currently available interventions.

TL;DR: Pregnant women are a “vulnerable” population in research due to their relationship with the fetus who cannot consent to participation and more than 80% of pregnant patients are routinely prescribed therapies that have not been studied in pregnancy.

TL;DR: PPHN was significantly associated with genetic variants in corticotropin-releasing hormone (CRH) receptor 1, CRHR1 and CRH-binding protein, CRHBP.

TL;DR: Four neonates with undiagnosed HFI, all caused by the common, homozygous mutation c.448G>C (p.A150P) in ALDOB, who developed life-threatening acute liver failure due to fructose-containing formulas are reported, underscoring the importance of dietary history and consideration of HFI in cases of neonatal or infantile acute Liver failure for prompt diagnosis and treatment.

TL;DR: In this article, the authors evaluated the clinical usefulness of rapid exome sequencing (rES) in critically ill children with likely genetic disease using a standardized process at a single institution and provided evidence that rES with should become standard of care for this patient population.