Correlates and assessment of excess cardiovascular risk in bronchiectasis.

Patients with bronchiectasis are at increased risk of cardiovascular disease. We aimed to identify factors associated with elevated cardiovascular risk in bronchiectasis, measured using aortic stiffness and cardiac biomarkers. In addition, we sought to compare these direct measures against calculated QRISK2 scores.

The heterogeneity of systemic inflammation in bronchiectasis.

Background: Systemic inflammation in bronchiectasis is poorly studied in relation to aetiology and severity. We hypothesized that molecular patterns of inflammation may define particular aetiology and severity groups in bronchiectasis.

Method: We assayed blood concentrations of 31 proteins from 90 bronchiectasis patients (derivation cohort) and conducted PCA to examine relationships between these markers, disease aetiology and severity.

Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization.

Misfolding, polymerization, and defective secretion of functional alpha-1 antitrypsin underlies the predisposition to severe liver and lung disease in alpha-1 antitrypsin deficiency. We have identified a novel (Ala336Pro, Baghdad) deficiency variant and characterized it relative to the wild-type (M) and Glu342Lys (Z) alleles. The index case is a homozygous individual of consanguineous parentage, with levels of circulating alpha-1 antitrypsin in the moderate deficiency range, but is a biochemical phenotype that could not be classified by standard methods.