genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations.

Background: loss of function manifests across a broad spectrum of phenotypes, ranging from severe prenatal onset to asymptomatic cases. Bilateral periventricular nodular heterotopia (BPNH) consistently occurs in affected individuals. This retrospective study involving French patients with BPNH evaluates the prevalence of gene dosage anomalies and investigates genotype-phenotype correlations in a large cohort of French patients with BPNH.

Assessment of persistent organic pollutants in killer whales (Orcinus orca) of the Canadian Arctic: Implications for subsistence consumption and conservation strategies.

Killer whales (Orcinus orca) historically restricted to certain Arctic regions due to extensive sea ice have recently been documented farther north and for longer durations in the Canadian Arctic. These apex predators accumulate high levels of persistent organic pollutants (POPs). The objective of this study was to evaluate the concentrations and profiles of POPs in killer whales of the Canadian Arctic, thus determining potential risks for Inuit communities if consumed.

Patient and Family Experience With Discharge Directly Home From the Pediatric ICU.

Background: Children are increasingly discharged directly from the PICU. Transitions have been recognized as a period of increased patient and caregiver stress and risk of adverse events. No study has evaluated patient and caregiver outcomes after direct discharge from the PICU.