Family Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.

Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.

Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.

Developing a 3D bone model of osteosarcoma to investigate cancer mechanisms and evaluate treatments.

Osteosarcoma is the most common primary bone cancer, occurring frequently in children and young adults. Patients are treated with surgery and multi-agent chemotherapy, and despite the introduction of mifamurtide in 2011, there has been little improvement in survival for decades. 3-dimensional models offer the potential to understand the complexity of the osteosarcoma tumor microenvironment and aid in developing new treatment approaches.

Genotype-Guided Asthma Treatment Reduces Exacerbations in Children: Meta-Analysis of Two RCTs.

Background: Long-acting beta2-agonists (LABA) in combination with inhaled corticosteroids (ICS) are commonly used to treat asthma, however, some children lack response to the addition of LABA. This might be partially due to the presence of the Arg16Gly polymorphism, encoded by rs1042713 G>A in the ADRB2 gene. Carrying the A allele (Arg16) at this variant has been associated with an increased risk of exacerbations despite LABA treatment.

Long-term outcomes of pediatric temporal bone fractures with hearing loss: Results of a multinational database analysis.

Introduction: Pediatric temporal bone fractures (TBFs) can result in adverse outcomes including meningitis, significant sensorineural hearing loss requiring cochlear implantation (CI), facial nerve weakness, cerebrospinal fluid (CSF) leak, and labyrinthitis. The objective of this study is to determine the risks of these outcomes for TBFs with hearing loss.

Methods: Using the multinational TriNetX database, a retrospective cohort study was performed of patients less than 18 years old with diagnostic codes for other fracture of base of skull and hearing loss to serve as an approximation of TBF.

The Interplay Between Visual Traits and Forest in Bumblebee Communities Across Sweden.

Understanding how ecological communities assemble in relation to natural and human-induced environmental changes is critical, particularly for communities of pollinators that deliver essential ecosystem services. Despite widespread attention to interactions between functional traits and community responses to environmental changes, the importance of sensory traits has received little attention. To address this, we asked whether visual traits of bumblebee communities varied at large geographical scales along a habitat gradient of increased tree cover.