Functional characterization of novel compound heterozygous missense gene variants causing congenital dyshormonogenic hypothyroidism.

Introduction: The sodium/iodide symporter (NIS) mediates active iodide accumulation in the thyroid follicular cell. Biallelic loss-of-function variants in the NIS-coding gene cause congenital dyshormonogenic hypothyroidism due to a defect in the accumulation of iodide, which is required for thyroid hormonogenesis.

Objective: We aimed to identify, and if so to functionally characterize, novel pathogenic gene variants in a patient diagnosed with severe congenital dyshormonogenic hypothyroidism characterized by undetectable radioiodide accumulation in a eutopic thyroid gland, as well as in the salivary glands.

Fostering collective action for adolescent well-being: citizen science in a Colombian semi-rural area.

We present findings from the Our Voice in Barú project, examining adolescent engagement in citizen science to address environmental and social factors affecting well-being in a semi-rural Afro-descendant community in Latin America. The project aimed to identify barriers and enablers of well-being, informing adolescent-led actions for sustainable environmental changes relevant to adolescent health. Utilizing the Our Voice citizen science method, which involved technology-enabled walks, participatory cartography workshops and community meetings, we engaged adolescents and other community members.

Watering the trees for the forest: Drought alleviation in oaks and pines by ancestral ditches.

Traditional ditches ("acequias" in Spanish) derive meltwater and infiltrate groundwater providing ecological services downstream in the semi-arid Sierra Nevada range (SE Spain). Therefore, they may act as a nature-based solution by alleviating drought stress in trees growing near ditches by enhancing growth and reducing their intrinsic water-use efficiency (iWUE). Such a mitigation role of acequias is critical given that some oak (Quercus pyrenaica) and pine (Pinus sylvestris) stands reach their xeric distribution limits in Europe.

Extended high-frequency hearing loss among Afro-Colombian adolescents from a rural area in Colombia: a cross-sectional study.

Objectives: Research trends concerning hearing loss within teen rural populations are limited and current evidence suggests that extended high-frequency audiometry can be a sensitive tool to detect subclinical hearing loss. Moreover, current research emphasises the importance of representing different ethnic populations in science. This study aimed to determine the prevalence of acquired hearing loss through conventional pure-tone (0.