Leigh syndrome associated with TRMU gene mutations

Insuficiència hepàtica aguda: Síndrome de Leigh; TRMUInsuficiencia hepática aguda; Síndrome de Leigh; TRMUAcute liver failure; Leigh syndrome; TRMUtRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. Our report enlarges the phenotypical spectrum of TRMU disease.This work was partially supported by the Spanish Instituto de Salud Carlos III, Fondo de Investigaciones Sanitarias and cofounded with ERDF funds (Grant No. FIS PI15/01428, PI19/01772)

Leigh Syndrome Associated with TRMU Gene Mutations

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failure and a neuroimaging compatible with Leigh syndrome (LS) due to TRMU deficiency, a combination not previously reported. Our report enlarges the phenotypical spectrum of TRMU diseaseThe Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), is an initiative of the Instituto de Salud Carlos III (Ministerio de Ciencia e Innovacion, Spain). This study was supported by the Agencia de Gestio d'Ajuts Universitaris i de Recerca (AGAUR) (2014: SGR 393) and the CERCA Programme/Generalitat de Catalunya. The present study was supported by the Department de Salut, Generalitat de Catalunya (URDCAT project, SLT002/16/00174

Advancing South American water and climate science through multi-decadal convection-permitting modeling

The South America Affinity Group (SAAG) was established in early 2019 by the National Center for Atmospheric Research (NCAR) Water Systems Program as a community effort focused on improving hydroclimate science over South America. SAAG supports large research efforts such as the ANDEX Regional Hydroclimate Program (Espinoza et al. 2020) as well as individual research groups. The group started with a dozen members and quickly grew to over 100 participants from more than ten countries. For the past four years, the SAAG has been meeting online every two weeks and has organized sessions at international conferences such as the American Geophysical Union Fall Meeting and the Convection-Permitting Climate Workshop (Prein et al. 2022). At the core of the SAAG effort are two multi-decadal convection-permitting (CP) model simulations with 4-km grid spacing for historical and future climates over the South American continent. Additionally, a major observational data collection effort has been undertaken, including in-situ station data from South American meteorological and water services, gridded products, satellite-based observations, and field campaign data (NCAR, 2023a). This article discusses the research needs and scientific goals that drive this community of scientists with diverse backgrounds and interests