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- Vogel, G. F., et al.
(författare)
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
- 2023
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Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 25:6
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and determine the role of cysteine supplementation in its treatment. Methods: Individuals with biallelic (likely) pathogenic variants in TRMU were studied within an international retrospective collection of de-identified patient data. Results: In 62 individuals, including 30 previously unreported cases, we described 47 (likely) pathogenic TRMU variants, of which 17 were novel, and 1 intragenic deletion. Of these 62 individuals, 42 were alive at a median age of 6.8 (0.6-22) years after a median follow-up of 3.6 (0.1-22) years. The most frequent finding, occurring in all but 2 individuals, was liver involvement. ALF occurred only in the first year of life and was reported in 43 of 62 individuals; 11 of whom received liver transplantation. Loss-of-function TRMU variants were associated with poor survival. Supplementation with at least 1 cysteine source, typically N-acetylcysteine, improved survival significantly. Neurodevelopmental delay was observed in 11 individuals and persisted in 4 of the survivors, but we were unable to determine whether this was a primary or a secondary consequence of TRMU deficiency. Conclusion: In most patients, TRMU-associated ALF was a transient, reversible disease and cysteine supplementation improved survival.
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| 2. |
- Dornelles, Andre Z., et al.
(författare)
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Towards a bridging concept for undesirable resilience in social-ecological systems
- 2020
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Ingår i: Global Sustainability. - : Cambridge University Press (CUP). - 2059-4798. ; 3
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Tidskriftsartikel (refereegranskat)abstract
- Non-technical summary Resilience is a cross-disciplinary concept that is relevant for understanding the sustainability of the social and environmental conditions in which we live. Most research normatively focuses on building or strengthening resilience, despite growing recognition of the importance of breaking the resilience of, and thus transforming, unsustainable social-ecological systems. Undesirable resilience (cf. lock-ins, social-ecological traps), however, is not only less explored in the academic literature, but its understanding is also more fragmented across different disciplines. This disparity can inhibit collaboration among researchers exploring interdependent challenges in sustainability sciences. In this article, we propose that the term lock-in may contribute to a common understanding of undesirable resilience across scientific fields. Technical summary Resilience is an extendable concept that bridges the social and life sciences. Studies increasingly interpret resilience normatively as a desirable property of social-ecological systems, despite growing awareness of resilient properties leading to social and ecological degradation, vulnerability or barriers that hinder sustainability transformations (i.e., 'undesirable' resilience). This is the first study to qualify, quantify and compare the conceptualization of 'desirable' and 'undesirable' resilience across academic disciplines. Our literature analysis found that various synonyms are used to denote undesirable resilience (e.g., path dependency, social-ecological traps, institutional inertia). Compared to resilience as a desirable property, research on undesirable resilience is substantially less frequent and scattered across distinct scientific fields. Amongst synonyms for undesirable resilience, the term lock-in is more frequently and evenly used across academic disciplines. We propose that lock-in therefore has the potential to reconcile diverse interpretations of the mechanisms that constrain system transformation - explicitly and coherently addressing characteristics of reversibility and plausibility - and thus enabling integrative understanding of social-ecological system dynamics. Social media summary 'Lock-in' as a bridging concept for interdisciplinary understanding of barriers to desirable sustainability transitions.
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