Results 161 to 170 of about 185,707 (269)

Iptacopan for Immune Thrombocytopenia and Cold Agglutinin Disease: A Global Phase 2 Basket Clinical Trial

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Iptacopan is a first‐in‐class, oral, selective inhibitor of complement factor B that has demonstrated positive efficacy across several complement‐driven diseases. Here we evaluate the efficacy and safety of iptacopan monotherapy in adult patients with primary immune thrombocytopenia (ITP) and primary cold agglutinin disease (CAD). We performed
Alexander Röth   +13 more
wiley   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón   +10 more
wiley   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +1 more source

Dysregulation of Glucocorticoid Receptor Homeostasis and Glucocorticoid-Associated Genes in Umbilical Cord Endothelial Cells of Diet-Induced Obese Pregnant Sheep [PDF]

open access: gold
Eugenia Mata‐Greenwood   +6 more
openalex   +1 more source

Healthcare Resource Utilization and Cost After Temperature‐Controlled Radiofrequency Treatment of Nasal Airway Obstruction: A Real‐World Longitudinal Claims Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Nasal airway obstruction (NAO) is prevalent with substantial health and quality of life burdens. Nasal valve collapse (NVC) is one structural cause of NAO. Temperature‐controlled radiofrequency (TCRF) nasal valve remodeling offers an alternative to invasive surgery.
David W. Kennedy   +7 more
wiley   +1 more source

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