Background And Objectives: Disorders of coenzyme Q (CoQ) biosynthesis comprise a group of 11 clinically and genetically heterogeneous rare primary mitochondrial diseases. We sought to delineate clinical, biochemical, and neuroimaging features of these disorders, together with outcomes after oral CoQ supplementation and the utility of peripheral blood mononuclear cell (PBMNC) CoQ levels in monitoring therapy.
Methods: This was a retrospective cohort study, registered as an audit at a specialist pediatric hospital (Registration Number: 3318) of 14 patients with genetically confirmed CoQ biosynthesis deficiency, including 13 previously unreported cases.
The study of repeatability in behaviour and activity level can be used to evaluate inter-individual differences, which are fundamental to assess the resilience of populations to environmental variation. Previous work on repeatability in wild fish populations has largely been based on acoustic telemetry or mark-and-recapture and has revealed repeatable activity patterns over relatively long periods in a number of species. Although accelerometry is a promising tool for investigating the swimming activity of fish in the wild, little is known about the repeatability of accelerometry-based traits in wild fish.
View Article and Find Full Text PDFRapid Commun Mass Spectrom
September 2024
Rationale: Understanding the migration of marine animals is hindered by the limitations of traditional tracking methods. It is therefore crucial to develop alternative methods. Stable isotope-based tracking has proven useful for this task, although it requires detailed isoscapes in the focal area.
View Article and Find Full Text PDFSince the first introduction from North America more than a century ago, rainbow trout (Oncorhynchus mykiss) have rapidly established self-sustaining populations in major river basins of Patagonia. Many generations later, only the freshwater resident life history is expressed in the Chubut and Negro rivers of northern Argentinian Patagonia, whereas both the resident and anadromous life histories are found in the Santa Cruz River of southern Argentina. Despite previous studies that have tried to identify the sources of these introduced populations, uncertainty still exists.
View Article and Find Full Text PDFMercury pollution is a serious global environmental issue and the characterization of its distribution and its driving forces should be urgently included in research agendas. We report unusually high mercury (Hg) concentrations (>5 μg/g) along with stable isotopes values in feathers of southern rockhopper penguins (Eudyptes chrysocome) from colonies in the Southwest Atlantic Ocean. We found a highly heterogenous prevalence of Hg throughout the study area and over a three-fold higher mean Hg concentration in southernmost colonies.
View Article and Find Full Text PDF