Impact of Severe Winter Weather on Operations of a Radiation Oncology Department.

Purpose: During winter 2022, western New York faced 2 major storms with blizzard conditions and record-breaking snowfall. The severe weather resulted in power outages and travel bans. This study investigates the impact of these conditions on patient adherence to radiation therapy.

Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare genetic condition affecting the mitochondrial beta-oxidation of long-chain fatty acids. This study reports on the clinical outcomes of patients diagnosed by newborn screening with VLCAD deficiency comparing metabolic parameters, enzyme activities, molecular results, and clinical management. It is a single-center retrospective chart review of VLCAD deficiency patients who met the inclusion criteria between January 2002 and February 2020.

Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population.

Background: Familial hypercholesteraemia (FH), an inherited disorder of cholesterol metabolism, has a prevalence of 1:250 and an associated 6- to 22-fold increased risk for cardiovascular disease. Despite the prevalence and availability of effective risk-reduction treatments, 90% of at-risk Canadians are undiagnosed. Indirect cascade screening from an index case is useful but the uptake is low (<4%), suggesting that barriers may exist.