Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.

Reliability and reproducibility of systematic reviews informing the 2020-2025 Dietary Guidelines for Americans: a pilot study.

Background: Although high-quality nutrition systematic reviews (SRs) are important for clinical decision making, there remains debate on their methodological quality and reporting transparency.

Objectives: The objective of this study was to assess the reliability and reproducibility of a sample of SRs produced by the Nutrition Evidence Systematic Review (NESR) team to inform the 2020-2025 Dietary Guidelines for Americans (DGAs).

Methods: We evaluated a sample of 8 SRs from the DGA dietary patterns subcommittee for methodological quality using the Assessment of Multiple Systematic Reviews 2 (AMSTAR 2) tool and for reporting transparency using the PRISMA 2020 and PRISMA literature search extension (PRISMA-S) checklists.

Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities.

Hereditary fructose intolerance (HFI) is characterized by liver damage and a secondary defect in N-linked glycosylation due to impairment of mannose phosphate isomerase (MPI). Mannose treatment has been shown to be an effective treatment in a primary defect in MPI (i.e.

Experiences and needs of residents with dementia in relocating to an innovative living arrangement within long-term care: A qualitative study.

During the last decade, an increasing number of care organizations have chosen to rebuild or build a new care facility to provide better person-environments for residents with dementia. This has inevitably led to an increase in relocations. This study investigated how residents with dementia experienced a relocation from a regular nursing home to an innovative living arrangement.