2 research outputs found
Additional file 1 of Pivotal interplays between fecal metabolome and gut microbiome reveal functional signatures in cerebral ischemic stroke
Additional file 1: Figure S1. The selection criteria of bacteria for the ecological network analysis. Figure S2. Volcano plots of feature changes of CIS versus control in feces, urine, and plasma. Figure S3. Metabolic pathway enrichment of differential metabolites in feces. Figure S4. Metabolic pathway enrichment of differential metabolites in urine. Figure S5. Metabolic pathway enrichment of differential metabolites in plasma. Figure S6. Hierarchical clustered heatmap of the Spearman’s rank correlation coefficient of gut microbial species and blood clinical indexes. Figure S7. Hierarchical clustered heatmap of the Spearman’s rank correlation coefficient of fecal metabolites and blood clinical indexes. Figure S8. Hierarchical clustered heatmap of the Spearman’s rank correlation coefficient of urine metabolites and blood clinical indexes. Figure S9. Hierarchical clustered heatmap of the Spearman’s rank correlation coefficient of plasma metabolites and blood clinical indexes. Figure S10. The proportion of variance in Shannon diversity explained by fecal metabolites. Figure S11. The proportion of variance in Chao1 diversity explained by plasma metabolites. Figure S12. The proportion of variance in Shannon diversity explained by plasma metabolites. Figure S13. The proportion of variance in Chao1 diversity explained by urine metabolites. Figure S14. The proportion of variance in Shannon diversity explained by urine metabolites. Figure S15. Correlation between bacteria data and the first principal coordinate (PCo1) of fecal, urine, and plasma metabolomics data. Figure S16. Showcase of association analysis on the CorHeat Lab web server. Table S1. Characteristics of the study participants and result of univariate logistic regression. Table S2. Metabolites that differ significantly in each metabolic sample
Fleck-like lesions in <i>CEP290-associated</i> leber congenital amaurosis: a case series
To provide a detailed ophthalmic phenotype of a small cohort of patients with Leber Congenital Amaurosis (LCA) caused by mutations in CEP290 (CEP290-LCA) with a focus on elucidating the origin of yellow-white lesions observed in 30% of patients with this condition. This is a retrospective review of records of five patients with CEP290-LCA. Patients had comprehensive ophthalmic evaluations. Visual function was assessed with full-field electroretinograms (ffERGs) and full-field sensitivity testing (FST). Multimodal imaging was performed with spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) with short- (SW) and near-infrared (NIR) excitation wavelengths. All patients showed relative structural preservation of the foveal and near midperipheral retina separated by a pericentral area of photoreceptor loss. Yellow-white, fleck-like lesions in an annular distribution around the near midperiphery co-localized with hyperreflective lesions on SD-OCT. The lesions located between the inner segment ellipsoid signal and the apical retinal pigment epithelium (RPE). The inner retina was normal. Longitudinal observations in one of the patients indicates the abnormalities may represent an intermediate stage in the degenerative process between the near normal appearing retina previously documented in young CEP290-LCA patients and the pigmentary retinopathy observed along the same region in older individuals.
We speculate that fleck-like lesions in CEP290-LCA correspond to malformed, rudimentary or degenerated, including shed, photoreceptor outer segments. The topography and possible origin of the abnormalities may inform the planning of evolving genetic therapies for this disease.</p