Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Purpose: The study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and to determine the role of cysteine supplementation in its treatment. Methods: Individuals with biallelic (likely) pathogenic variants in TRMU were studied through an international retrospective collection of de-identified patient data. Results: In 62 individuals, including 30 previously unreported cases, we described 48 (likely) pathogenic TRMU variants, of which, 18 were novel. 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 is a transient, reversible disease and cysteine supplementation improved survival

Recent advances in the study of biocorrosion: an overview Avanços recentes no estudo da biocorrosão: uma revisão

Biocorrosion processes at metal surfaces are associated with microorganisms, or the products of their metabolic activities including enzymes, exopolymers, organic and inorganic acids, as well as volatile compounds such as ammonia or hydrogen sulfide. These can affect cathodic and/or anodic reactions, thus altering electrochemistry at the biofilm/metal interface. Various mechanisms of biocorrosion, reflecting the variety of physiological activities carried out by different types of microorganisms, are identified and recent insights into these mechanisms reviewed. Many modern investigations have centered on the microbially-influenced corrosion of ferrous and copper alloys and particular microorganisms of interest have been the sulfate-reducing bacteria and metal (especially manganese)-depositing bacteria. The importance of microbial consortia and the role of extracellular polymeric substances in biocorrosion are emphasized. The contribution to the study of biocorrosion of modern analytical techniques, such as atomic force microscopy, Auger electron, X-ray photoelectron and Mössbauer spectroscopy, attenuated total reflectance Fourier transform infrared spectroscopy and microsensors, is discussed.<br>Processos de biocorrosão na superfície de metais são associados com microrganismos ou com os seus produtos metabólicos, tais como: enzimas, exopolímeros, ácidos orgânicos e inorgânicos, e compostos voláteis como amônio ou sulfeto de hidrogênio. Todos estes produtos podem afetar reações catódicas e/ou anódicas, alterando processos eletroquímicos na interface biofilme/metal. Esta revisão discute diversos mecanismos de biocorrosão causados pelos diferentes atividades fisiológicas associadas com microrganismos e os conhecimentos mais recentes. Estudos modernos da corrosão microbiologicamente influenciada focalizam problemas em ligas de ferro e de cobre. Microrganismos especialmente enfocados são as bactérias redutoras de sulfato e bactérias que depositam metais, destacando aquelas que depositam manganês. A importância de consórcios microbianos e o papel de substâncias poliméricas extracelulares na biocorrosão são enfatizados nesta revisão. Considera-se a contribuição de técnicas analíticas modernas, tais como microscopia de força atómica, espectroscopia Auger, espectroscopia de raio-X, espectroscopia Mössbauer, espectroscopia de infra-vermelho de reflectância total com transformação de Fourier e microsensores