Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ deficiency: Hypomorphic variants and two distinct disease entities.

Primary coenzyme Q10 (CoQ) deficiency is a group of inborn errors of metabolism caused by defects in CoQ biosynthesis. Biallelic pathogenic variants in COQ7, encoding mitochondrial 5-demethoxyubiquinone hydroxylase, have been reported in nine patients from seven families. We identified five new patients with COQ7-related primary CoQ deficiency, performed clinical assessment of the patients, and studied the functional effects of current and previously reported COQ7 variants and potential treatment options.

Key challenges and developments in wildlife ecological risk assessment: Problem formulation.

Problem formulation (PF) is a critical initial step in planning risk assessments for chemical exposures to wildlife, used either explicitly or implicitly in various jurisdictions to include registration of new pesticides, evaluation of new and existing chemicals released to the environment, and characterization of impact when chemical releases have occurred. Despite improvements in our understanding of the environment, ecology, and biological sciences, few risk assessments have used this information to enhance their value and predictive capabilities. In addition to advances in organism-level mechanisms and methods, there have been substantive developments that focus on population- and systems-level processes.

Effects of Lead and Arsenic in Soils from Former Orchards on Growth of Three Plant Species.

Historical use of lead arsenate as a pesticide in former orchards of eastern Washington State (USA) has resulted in legacy lead (Pb) and arsenic (As) soil contamination. However, the impacts on plant growth in soils with residual Pb and As contamination have not yet been quantified. To this end, a comparative study of plant growth impacts was performed for native bluegrass (Poa secunda), invasive cheatgrass (Bromus tectorum), and buttercrunch lettuce (Lactuca sativa).

Terrestrial ecological risk analysis via dietary exposure at uranium mine sites in the Grand Canyon watershed (Arizona, USA).

The U.S. Department of the Interior recently included uranium (U) on a list of mineral commodities that are considered critical to economic and national security.

Assessing the Ecological Risks of Per- and Polyfluoroalkyl Substances: Current State-of-the Science and a Proposed Path Forward.

Per- and poly-fluoroalkyl substances (PFAS) encompass a large, heterogenous group of chemicals of potential concern to human health and the environment. Based on information for a few relatively well-understood PFAS such as perfluorooctane sulfonate and perfluorooctanoate, there is ample basis to suspect that at least a subset can be considered persistent, bioaccumulative, and/or toxic. However, data suitable for determining risks in either prospective or retrospective assessments are lacking for the majority of PFAS.