Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Diagnosis and Monitoring Pathways Using Non-Invasive Tests in Patients With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease: Results From an Expert Delphi Panel.
United European Gastroenterol J
March 2025
University Hospital RWTH Aachen, Aachen, Germany.
Background And Aims: The severe alpha-1 antitrypsin deficiency (AATD) genotype Pi*ZZ increases the risk of liver disease (AATD-LD) and lung disease. While non-invasive tests (NITs) are widely used for fibrosis stage and monitoring of all liver diseases, the consensus for use in AATD-LD is limited. A Delphi panel study was conducted to address this need.
View Article and Find Full Text PDFLongitudinal Outcomes in Pi*MZ Alpha-1 Antitrypsin Deficient Individuals with Tobacco Smoking History from the SPIROMICS Cohort.
Ann Am Thorac Soc
March 2025
Mayo Clinic, Internal Medicine, Division of Respiratory Medicine, Scottsdale, Arizona, United States.
Background: Reliable data about the natural history of lung function decline in alpha-1 antitrypsin (AAT) deficient Pi*MZ heterozygotes is largely missing. We hypothesized that, in adults with a tobacco smoking history, lung function deteriorates faster in Pi*MZ compared to Pi*MM genotype.
Methods: We identified 1856 Pi*MM and 79 Pi*MZ participants with ≥20 pack-years tobacco smoking history from the SPIROMICS cohort by DNA sequencing and followed them over a median of 4.
Signs of Hyperinflation and Ventilation Heterogeneity in Individuals With Severe Alpha-1-Antitrypsin Deficiency at the Age of 42.
Int J Chron Obstruct Pulmon Dis
March 2025
Department of Internal Medicine, Skåne University Hospital, Malmö, Sweden, Lund University, Lund, Sweden.
Background: Severe alpha-1-antitrypsin deficiency (AATD) is a known risk factor for early development of emphysema and COPD. By the Swedish national screening program within the years 1972-74 a cohort of individuals with severe AATD (PiZZ) was identified and regularly followed up. The aim of this study was to investigate alveolar volume (V) and the ratio V/Total lung capacity (V/TLC) for the detection of signs of hyperinflation and ventilation heterogeneity in PiZZ individuals compared with an age-matched control group (phenotype PiMM), randomly selected from the population registry.
View Article and Find Full Text PDFSelection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency.
Nat Genet
March 2025
Department of Medicine, University of Cambridge, Cambridge, UK.
Somatic variants accumulate in non-malignant tissues with age. Functional variants, leading to clonal advantage of hepatocytes, accumulate in the liver of patients with acquired chronic liver disease (CLD). Whether somatic variants are common to CLD from differing etiologies is unknown.
View Article and Find Full Text PDFExosites: beyond the limitations of the protease active site.
FEBS J
March 2025
Insight-DNA, Oak Park, IL, USA.
Proteases rely on their active sites for substrate specificity, but these sites have inherent limitations that impact enzymatic efficiency and regulation. Exosites and cofactors help overcome these constraints by enhancing the protease's substrate interactions, specificity, and inhibition. Recent research by Gangemi et al.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!