Results 171 to 180 of about 8,462,270 (351)

Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation‐Related Quality of Life

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Long‐Term Particulate Matter Exposure May Increase Risk of Chronic Rhinosinusitis WIth Nasal Polyposis: Results from an Exposure‐Matched Study

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Particulate matter ⩽2.5 µm in diameter (PM2.5) and its role in chronic rhinosinusitis (CRS) pathogenesis have gained heightened attention. We previously demonstrated that PM2.5 exposure may bias the nasal mucosa in CRS toward a Type 2 inflammatory pathway.
Rory J. Lubner   +5 more
wiley   +1 more source

The gut ileal mucosal virome is disturbed in patients with Crohn’s disease and exacerbates intestinal inflammation in mice

open access: yesNature Communications
Gut bacteriome dysbiosis is known to be implicated in the pathogenesis of inflammatory bowel disease (IBD). Crohn’s disease (CD) is an IBD subtype with extensive mucosal inflammation, yet the mucosal virome, an empirical modulator of the bacteriome and ...
Zhirui Cao   +13 more
doaj   +1 more source

Technological Innovations and Applications of Spatial Transcriptomics in Livestock and Poultry Research

open access: yesAnimal Research and One Health, EarlyView.
The paper is divided into three main sections: a review of the development of spatial transcriptomics technology, its applications in livestock and poultry research, and its future prospects. This article provides an overview of the current state of spatial transcriptomics in animal research, exploring its integration with multiomics technologies as ...
Mingyu Wang   +5 more
wiley   +1 more source

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