Indications and outcomes of pediatric high flow nasal cannula use in the home setting.

Objective: To describe the patient characteristics, indications, and clinical outcomes of home high flow nasal cannula (HFNC) among pediatric patients. To evaluate secular trends in home HFNC initiation between 2013 and 2022.

Methods: A retrospective review of all children on home HFNC between 2013 and 2023 was conducted at a tertiary care pediatric hospital in Ontario, Canada.

Characteristics and outcomes of home parenteral nutrition among children with severe neurological impairment.

Objectives: To describe the characteristics, secular trends, and outcomes of home parenteral nutrition (HPN) use among children with severe neurological impairment (SNI) and non-primary digestive disorders from 2010 to 2023 and compare outcomes to children with primary digestive disorders on HPN.

Methods: A retrospective review of all children with SNI and non-primary digestive disorders, where HPN was initiated between January 2010 and September 2023 at a tertiary care pediatric hospital. The Mann-Kendall trend test was used to assess trends in HPN initiation.

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.

Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians and families is unclear. We identified reports published from 2017 to 2021 in 10 genetics journals of novel Mendelian disorders.