Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.
Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.
Purpose: To investigate the efficacy of a novel approach using a sterile caliper for anterior chamber (AC) decompression in reducing post-intravitreal injection (IVI) intraocular pressure (IOP) spikes.
Methods: A prospective interventional case series conducted at the Iowa City Veterans Affairs Medical Center (VAMC) with Institutional Review Board approval. Patients were randomized to receive conventional IVI or IVI with sterile caliper decompression.
Background: With the potential to identify a vast number of rare diseases soon after birth, genomic newborn screening (gNBS) could facilitate earlier interventions and improve health outcomes. Designing a gNBS programme will involve balancing stakeholders' opinions and addressing concerns. The views of medical students-future clinicians who would deliver gNBS-have not yet been explored.
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