Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.

Incontinentia pigmenti (IP) is caused by loss-of-function variants in , with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical testing in whom long-read sequencing identified causal variants. Concurrent methylation analysis explained disease severity in one individual who died from neurologic complications, identified a mosaic variant in an individual with an atypical presentation, and confirmed skewed X-chromosome inactivation in an XXY individual.

Wood Bark-Based Films as Electrical Insulators with Ultralow Dielectric Constant and Loss Factor.

Dielectric polymers, particularly thermally stable synthetic types, play a crucial role in capacitors, circuit boards, insulators, and high-frequency devices. However, they also contribute significantly to electronic waste, making up approximately 20% of the 74.7 million metric tons of e-waste generated each year.

Transitioning Adolescents to Adult HIV Care in the United States: Implementation Lessons from the Intervention Pilot Trial.

Although every youth in pediatric/adolescent HIV care will need to transition to adult-oriented care, there are no existing evidence-based interventions to optimize health through this process. Healthcare transition poses a persistent challenge to the health of youth living with HIV, which may result in gaps in care engagement, medication adherence, and viral suppression. Our process evaluation of , a multilevel mobile health (mHealth) intervention, included iterative interviews with youth, providers, and Transition Champions.