|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
This proteolytic activity is not rescued by exogenous AAT supplementation and could thus contribute to augmentation resistance in AAT deficiency-associated emphysema.
|
28362108 |
2017 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
White PiMZ COPDGene subjects had significantly lower lung function, FEV<sub>1</sub> percent predicted (68 ± 28 vs. 75 ± 27; P = 0.0005), and FEV<sub>1</sub>/FVC ratio (0.59 ± 0.18 vs. 0.63 ± 0.17; P = 0.0008), as well as more radiographic emphysema (P = 0.001), than subjects without alpha-1 antitrypsin Z risk alleles.
|
28380308 |
2017 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Specific augmentation of AAT levels with regular purified AAT infusions has been found to slow lung function decline and emphysema progression in patients with moderate airflow obstruction and severely low serum AAT levels.
|
28929906 |
2017 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The Z mutation (E342K) of α1-antitrypsin (α1-AT), carried by 4% of Northern Europeans, predisposes to early onset of emphysema due to decreased functional α1-AT in the lung and to liver cirrhosis due to accumulation of polymers in hepatocytes.
|
27246852 |
2016 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
The loss of anti-inflammatory and antiproteolytic functions, together with pro-inflammatory effects of polymerized AAT contribute to protein degradation and increased inflammation resulting in an increased risk of developing chronic obstructive pulmonary disease (COPD) and emphysema, especially in smokers.
|
26341117 |
2016 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It is known that, apart from the most prevalent PI*S and PI*Z A1AT deficiency variants, other so-called rare variants also predispose individuals to severe chronic respiratory disorders such as emphysema and chronic obstructive pulmonary disease.
|
26987331 |
2016 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our study provides novel insight into the use of rA1AT for the treatment of emphysema with an increased injection interval relative to the clinically used plasma-derived A1AT.
|
26947874 |
2016 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Although hereditary severe deficiency of α1 antitrypsin (A1AD) has been established to cause emphysema, A1AD accounts for only ∼ 1% of Chronic Obstructive Pulmonary Disease (COPD) cases.
|
26915270 |
2016 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum and predisposes affected individuals to emphysema.
|
27296815 |
2016 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
The administration of periodic infusions of AAT is the only specific treatment for delaying the progression of emphysema associated with AATD.
|
25027067 |
2015 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Although neutrophil elastase is implicated in the pathophysiology of emphysema, our results highlight a potentially important role for proteinase 3 because of its greater concentration in azurophil granules, its reduced association rate constant with all α-1-antitrypsin variants studied here, its greater diffusion distance, time spent uninhibited following degranulation, and its greater propensity to partition to α-2-macroglobulin where it retains proteolytic activity.
|
25416382 |
2015 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha-1 antitrypsin (AAT) deficiency is a hereditary trait whose main characteristic is early onset of lung emphysema.
|
26287318 |
2015 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Deficiency in the serine protease inhibitor, alpha-1 antitrypsin (AAT), is known to cause emphysema and liver disease.
|
26005342 |
2015 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SERPINA1 gene cause AAT deficiency and predispose individuals to early-onset emphysema and liver diseases.
|
26141700 |
2015 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Null-AAT alleles represent the end of a continuum of variants associated with profound AAT deficiency and extremely increased risk of emphysema.
|
25287719 |
2014 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
The F variant may increase susceptibility to elastase-induced lung damage but not emphysema, whereas co-inheritance with the Z deficiency allele may predispose to emphysema despite reasonable plasma concentrations of alpha-1-antitrypsin.
|
25098359 |
2014 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Polymers of Z-alpha-1 antitrypsin form in bronchial epithelial cells, suggesting that these cells may be involved in the pathogenesis of lung emphysema and in bronchial epithelial cell dysfunction.
|
25218041 |
2014 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
The rationale of α1-antitrypsin (AAT) augmentation therapy to treat progressive emphysema in AAT-deficient patients is based on inhibition of neutrophil elastase; however, the benefit of this treatment remains unclear.
|
23975926 |
2013 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our patient did not display deficiency in α-1-antitrypsin, the most common cause of emphysema in non-smokers, which brings about disseminated elastolysis.
|
22386972 |
2012 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
In this review, we discuss the clinical aspects of AATD as they pertain to emphysema; including similarities and differences to cigarette smoke-induced emphysema.
|
22697349 |
2012 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
α(1)AT deficiency is the major contributor to pulmonary emphysema and liver disease in persons of European ancestry, with a prevalence of 1 in 2500 in the USA.
|
23251618 |
2012 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since the end of the 1980s augmentation therapy with alpha-1 antitrypsin (AAT) from human plasma has been available for specific treatment of emphysema due to AAT deficiency.
|
22365503 |
2012 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha-1-antitrypsin (A1AT) is the main inhibitor of neutrophil elastase, and severe alpha-1-antitrypsin deficiency (A1ATD) is a genetic risk factor for early-onset emphysema.
|
22971141 |
2012 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease.
|
21752289 |
2011 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
The resulting lack of circulating α(1)-antitrypsin predisposes the Z homozygote to proteolytic lung damage and emphysema.
|
21966212 |
2011 |