0000000000936458
AUTHOR
Andrew M. Davis
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study
ObjectiveTo define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes.MethodsPatients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/−) to determine the sequence of events in seizure-related cardiac death.ResultsNinety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnormalities…
Formation of refractory metal nuggets and their link to the history of CAIs
Abstract Ca, Al-rich inclusions (CAIs) often contain numerous refractory metal nuggets (RMNs), consisting of elements like Os, Ir, Mo, Pt and Ru. The nuggets are usually thought to have formed by equilibrium condensation from a gas of solar composition, simultaneously with or prior to oxide and silicate minerals. However, the exact mechanisms responsible for their extremely variable compositions, small sizes and associations with CAI minerals remain puzzling. Expanding on previous work on chemically separated RMNs, we have studied a large number of RMNs within their host CAIs from three different meteorite types, i.e., the highly primitive chondrite Acfer 094 (C2-ungrouped), Allende (CV3 ox…