Results 141 to 150 of about 220,119 (313)

IL‐31 levels correlate with pruritus in patients with cholestatic and metabolic liver diseases and is farnesoid X receptor responsive in NASH

open access: yesHepatology, EarlyView., 2022
IL‐31 levels correlate with pruritus in patients with cholestatic and metabolic liver diseases Abstract Background and Aims Pruritus is associated with multiple liver diseases, particularly those with cholestasis, but the mechanism remains incompletely understood.
Jun Xu   +20 more
wiley   +1 more source

Rare Variants in Primary Immunodeficiency Genes and Their Functional Partners in Severe COVID-19. [PDF]

open access: yesBiomolecules, 2023
Khadzhieva MB   +6 more
europepmc   +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

Quality of Life in Japanese Patients with Primary Immunodeficiency Disease is Disrupted throughout the Year. [PDF]

open access: yesJ Clin Immunol
Kawai T   +7 more
europepmc   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff   +8 more
wiley   +1 more source

Clinical effectiveness and treatment satisfaction between two triple‐therapy regimens in treating neuropathic pain: A real‐world data

open access: yesIbrain, EarlyView., 2023
This study compared the clinical effectiveness and treatment satisfaction of Pregabalin and Gabapentin triple therapy for neuropathic pain in a real‐world setting. The primary outcome measured the reduction in mean Self‐Administered Leeds Assessment of Neuropathic Symptoms and Signs pain score value from baseline to 12 weeks posttreatment.
Nithya Raju   +7 more
wiley   +1 more source

Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care. [PDF]

open access: yesJ Clin Immunol
Israni M   +24 more
europepmc   +2 more sources

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