Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.

Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is a recently described genetic condition caused by de novo missense HK1 variants. Phenotypic data is currently limited; only seven patients have been published to date. This descriptive case series of a further four patients with de novo missense HK1 variants, alongside integration of phenotypic data with the reported cases, aims to improve our understanding of the associated phenotype.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

Purpose: This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib).

Methods: This is an international retrospective questionnaire study on the safety and efficacy of empagliflozin use for management of neutropenia/neutrophil dysfunction in patients with GSD Ib, conducted among the respective health care providers from 24 countries across the globe.

Results: Clinical data from 112 individuals with GSD Ib were evaluated, representing a total of 94 treatment years.

Isotopic signatures of methane emissions from tropical fires, agriculture and wetlands: the MOYA and ZWAMPS flights.

We report methane isotopologue data from aircraft and ground measurements in Africa and South America. Aircraft campaigns sampled strong methane fluxes over tropical papyrus wetlands in the Nile, Congo and Zambezi basins, herbaceous wetlands in Bolivian southern Amazonia, and over fires in African woodland, cropland and savannah grassland. Measured methane C isotopic signatures were in the range -55 to -49‰ for emissions from equatorial Nile wetlands and agricultural areas, but widely -60 ± 1‰ from Upper Congo and Zambezi wetlands.

Mechanisms of obesity in children and adults with phenylketonuria on contemporary treatment.

Background & Aims: Obesity prevalence in people with phenylketonuria (PKU) is comparable to that of the general population but the underlying aetiology remains unknown. To assess body composition, dietary intake, moderate physical activity duration (MPAD) and energy expenditure (MPAEE), resting metabolic rate (RMR), diet-induced thermogenesis (DIT), fasting and postprandial fat (FOx) and carbohydrate oxidation (CHOOx), in PKU people and healthy Controls.

Methods: Participants were PKU people (n = 16) and healthy controls (n = 15).