Managing invasive species in cities:A decision support framework applied to Cape Town

It has been suggested that existing frameworks for guiding management of invasive species in rural areas and protected areas are inadequate for dealing with invasions in urban settings. A framework for selecting appropriate goals for managing invasive species in urban areas was developed by Gaertner et al. in 2016. This framework groups species into three management approaches (control priority, active engagement, and tolerance) depending on their real or perceived benefits and their potential to generate negative impacts.This study tests the practical application of the framework using the example of Cape Town. We assess the suitability of the framework to support decision-making for managing invasive species in urban ecosystems using a questionnaire-based survey of members of the public, and an e-mail-based survey and a workshop with invasion biology researchers and managers. Specifically, we (1) determine the differences in perceptions regarding the benefits and impacts of invasive species between the public, managers and researchers; (2) investigate how consistently managers and researchers group invasive species into the three management categories; and (3) identify, with the help of managers and researchers, issues linked to the framework and give suggestions to overcome the identified issues.We found no clear pattern in the perceptions of the public, managers and researchers regarding perceived benefits and negative impacts. Instead, the answers were widely scattered among all groups for most of the species that were considered. However, using the framework leads to a higher consistency among managers in placing the species into management categories, compared to invasive species grouping without guidance of the framework.We conclude that decision-support frameworks can assist managers in placing invasive species into management categories. However, even more specific guidelines on the use of invasive species management frameworks in urban areas are needed

Protein misfolding and dysregulated protein homeostasis in autoinflammatory diseases and beyond.

Cells have a number of mechanisms to maintain protein homeostasis, including proteasome-mediated degradation of ubiquitinated proteins and autophagy, a regulated process of ‘self-eating’ where the contents of entire organelles can be recycled for other uses. The unfolded protein response prevents protein overload in the secretory pathway. In the past decade, it has become clear that these fundamental cellular processes also help contain inflammation though degrading pro-inflammatory protein complexes such as the NLRP3 inflammasome. Signaling pathways such as the UPR can also be co-opted by toll-like receptor and mitochondrial reactive oxygen species signaling to induce inflammatory responses. Mutations that alter key inflammatory proteins, such as NLRP3 or TNFR1, can overcome normal protein homeostasis mechanisms, resulting in autoinflammatory diseases. Conversely, Mendelian defects in the proteasome cause protein accumulation, which can trigger interferon-dependent autoinflammatory disease. In non-Mendelian inflammatory diseases, polymorphisms in genes affecting the UPR or autophagy pathways can contribute to disease, and in diseases not formerly considered inflammatory such as neurodegenerative conditions and type 2 diabetes, there is increasing evidence that cell intrinsic or environmental alterations in protein homeostasis may contribute to pathogenesis

Pathogenic <em>PDE12 </em>variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

\ua9 The Author(s) 2024.Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. Within this group, an increasing number of families have been identified, where Mendelian genetic disorders implicate defective mitochondrial RNA biology. The PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Here, we report that disease-causing PDE12 variants in three unrelated families are associated with mitochondrial respiratory chain deficiencies and wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis. Whole exome sequencing of affected probands revealed novel, segregating bi-allelic missense PDE12 variants affecting conserved residues. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing (MPAT-Seq) revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein. Our data suggest that PDE12 regulates mitochondrial RNA processing and its loss results in neurological and muscular phenotypes

Haptic Guidance with a Soft Exoskeleton Reduces Error in Drone Teleoperation

Haptic guidance has been shown to improve performance in many fields as it can give additional information without overloading other sensory channels such as vision or audition. Our group is investigating new intuitive ways to interact with robots, and we developed a suit to control drones with upper body movement, called the FlyJacket. In this paper, we present the integration of a cable-driven haptic guidance in the FlyJacket. The aim of the device is to apply a force relative to the distance between the drone and a predetermined trajectory to correct user torso orientation and improve the flight precision. Participants (n=10) flying a simulated fixed-wing drone controlled with torso movements tested four different guidance profiles (three linear profiles with different stiffness and one quadratic). Our results show that a quadratically shaped guidance, which gives a weak force when the error is small and a strong force when the error becomes significant, was the most effective guidance to improve the performance. All participants also reported through questionnaires that the haptic guidance was useful for flight control

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most frequent recessive form of hereditary neuropathy. We identified 45 individuals from 38 families across multiple ancestries carrying the nonsense c.757delG (p.Ala253GlnfsTer27) variant in SORD, in either a homozygous or compound heterozygous state. SORD is an enzyme that converts sorbitol into fructose in the two-step polyol pathway previously implicated in diabetic neuropathy. In patient-derived fibroblasts, we found a complete loss of SORD protein and increased intracellular sorbitol. Furthermore, the serum fasting sorbitol levels in patients were dramatically increased. In Drosophila, loss of SORD orthologs caused synaptic degeneration and progressive motor impairment. Reducing the polyol influx by treatment with aldose reductase inhibitors normalized intracellular sorbitol levels in patient-derived fibroblasts and in Drosophila, and also dramatically ameliorated motor and eye phenotypes. Together, these findings establish a novel and potentially treatable cause of neuropathy and may contribute to a better understanding of the pathophysiology of diabetes

Adverse Drug Reactions in Children—A Systematic Review

Adverse drug reactions in children are an important public health problem. We have undertaken a systematic review of observational studies in children in three settings: causing admission to hospital, occurring during hospital stay and occurring in the community. We were particularly interested in understanding how ADRs might be better detected, assessed and avoided