'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.

Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.

Pro-inflammatory and hyperinsulinaemic dietary patterns are associated with specific gut microbiome profiles: a TwinsUK cohort study.

Metabolic dietary patterns, including the Empirical Dietary Index for Hyperinsulinaemia (EDIH) and Empirical Dietary Inflammatory Pattern (EDIP), are known to impact multiple chronic diseases, but the role of the colonic microbiome in mediating such relationships is poorly understood. Among 1,610 adults with faecal 16S rRNA data in the TwinsUK cohort, we identified the microbiome profiles for EDIH and EDIP (from food frequency questionnaires) cross-sectionally using elastic net regression. We assessed the association of the dietary pattern-related microbiome profile scores with circulating biomarkers in multivariable-adjusted linear regression.

Measurement of ambient fiber and fibrous glass concentrations near three fiberglass wool manufacturing facilities in the United States.

A limited number of published studies have evaluated concentrations of airborne fibers in outdoor air, with even fewer assessing typical air concentrations in the ambient air near fiberglass wool manufacturing facilities. Building upon the assessment by Switala et al. (1994), area samples for airborne fiber concentrations (diameters of less than 3 µm, lengths greater than 5 µm, and aspect ratios equal to or greater than 5 to 1) were collected at fixed locations along the fence lines of three fiberglass wool manufacturing facilities in the United States.