Atopic dermatitis (AD) is a common, chronic skin disorder that can significantly impact the quality of life (QoL) of affected individuals as well as their families. Although the pathogenesis of the disorder is not yet completely understood, it appears to result from the complex interplay between defects in skin barrier function, environmental and infectious agents, and immune dysregulation. There are no diagnostic tests for AD; therefore, the diagnosis is based on specific clinical criteria that take into account the patient's history and clinical manifestations.
View Article and Find Full Text PDFComparing the abundance of microbial communities between different groups or obtained under different experimental conditions using count sequence data is a challenging task due to various issues such as inflated zero counts, overdispersion, and non-normality. Several methods and procedures based on counts, their transformation and compositionality have been proposed in the literature to detect differentially abundant species in datasets containing hundreds to thousands of microbial species. Despite efforts to address the large numbers of zeros present in microbiome datasets, even after careful data preprocessing, the performance of existing methods is impaired by the presence of inflated zero counts and group-wise structured zeros (i.
View Article and Find Full Text PDFPhosphorus (P) is a major element required for plant growth and development. To cope with P shortage, plants activate local and long-distance signaling pathways, such as an increase in the production and exudation of strigolactones (SLs). The role of the latter in mitigating P deficiency is, however, still largely unknown.
View Article and Find Full Text PDFGenome-wide association studies (GWAS) have been highly informative in discovering disease-associated loci but are not designed to capture all structural variations in the human genome. Using long-read sequencing data, we discovered widespread structural variation within SINE-VNTR- (SVA) elements, a class of great ape-specific transposable elements with gene-regulatory roles, which represents a major source of structural variability in the human population. We highlight the presence of structurally variable SVAs (SV-SVAs) in neurological disease-associated loci, and we further associate SV-SVAs to disease-associated SNPs and differential gene expression using luciferase assays and expression quantitative trait loci data.
View Article and Find Full Text PDFTo determine the safety and efficacy of 0.5 mg intramuscular (IM) epinephrine for the treatment of subcutaneous allergen immunotherapy induced anaphylaxis. Retrospective chart review of patients who received 0.
View Article and Find Full Text PDFTransposable element (TE) invasions have shaped vertebrate genomes over the course of evolution. They have contributed an extra layer of species-specific gene regulation by providing novel transcription factor binding sites. In humans, SINE-VNTR- (SVA) elements are one of three still active TE families; approximately 2800 SVA insertions exist in the human genome, half of which are human-specific.
View Article and Find Full Text PDFObjective: To investigate reliability, validity, and sensitivity to change of the Lower Extremity Functional Scale (LEFS) in individuals affected by stroke. The secondary objective was to test the validity and sensitivity of a single-item linear analog scale (LAS) of function.
Design: Prospective cohort reliability and validation study.