Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

Background: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidate this diagnostic journey by examining families' and professionals' experiences.

Results And Discussion: A questionnaire was designed for CDG families and professionals, garnering 160 and 35 responses, respectively.

Microplastics and silver nanoparticles compromise detrital food chains in streams through effects on microbial decomposers and invertebrate detritivores.

Abundance of microplastics (MPs) in freshwater ecosystems has become an emerging concern due to their persistence, toxicity and potential interactions with other contaminants. Silver nanoparticles (Ag-NPs), which share common sources with MPs (e.g.

A community-centric model for conference co-creation: the world conference on CDG for patients, families and professionals.

Background: Patient and public co-creation and involvement in health initiatives have been witnessing great expansion in recent years. From healthcare to research settings, collaborative approaches are becoming increasingly prevalent and diverse, especially in the field of rare diseases which faces complex challenges. Conference development and implementation, however, have been primarily guided by passive, information-sharing models.

Can acclimation of freshwater rotifers to silver nanoparticles or 5-fluorouracil influence their multi- and transgenerational effects?

Emerging chemical contaminants (ECCs) are among the major environmental threats in present century. A variety of ECCs is released into aquatic environments with little knowledge about their long-term impacts to organisms. We examined the role of acclimation of the freshwater rotifer Brachionus calyciflorus to silver nanoparticles (Ag-NPs) and 5-fluorouracil (5-FU) for determining their ability to deal with these ECCs individually and in mixtures along multiple generations.

Fungal identity mediates the impacts of multiple stressors on freshwater ecosystems.

Predicting how multiple anthropogenic stressors affect natural ecosystems is a major challenge in ecology. Freshwater ecosystems are threatened worldwide by multiple co-occurring stressors, which can affect aquatic biodiversity, ecosystem functioning and human wellbeing. In stream ecosystems, aquatic fungi play a crucial role in global biogeochemical cycles and food web dynamics, therefore, assessing the functional consequences of fungal biodiversity loss under multiple stressors is crucial.