|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
19 Whites heterozygote for five non-S/Z coding variants associated with lower α1-antitrypsin had greater CT-based emphysema compared to those without rare variants.
|
31661293 |
2020 |
|
Pulmonary Emphysema
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The recommended standard dose (SD; 60 mg/kg/wk) elevates AAT trough serum levels to around 50% of normal; however, outside of slowing emphysema progression, its effects in other clinical outcomes have not been rigorously proven.<b>Objectives:</b> To evaluate the biological effects of normalizing AAT trough levels with double-dose (DD) therapy (120 mg/kg/wk) in subjects with AATD already receiving SD therapy.<b>Methods:</b> Clinically stable subjects were evaluated after 4 weeks of SD therapy, followed by 4 weeks of DD therapy, and 4 weeks after return to SD therapy.
|
30965011 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Six and twelve weeks of anti-AAT oligonucleotide therapy induced emphysema that was worse in female than male mice: mean linear intercept 73.4 versus 62.5 μm (<i>P</i> = 0.000003).
|
31017014 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alpha-1-antitrypsin (A1AT) deficiency is a hereditary condition caused by mutations in the SERPINA1 gene and associated with lung emphysema and liver disease.
|
31583408 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
The agreement with D<sub>LCO</sub>%pred was explored in a data set of 180 patients with emphysema who participated in a trial of alpha-1-antitrypsin augmentation treatment (RAPID).
|
30819163 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
<b>Rationale:</b> The association between non-tuberculous mycobacterial lung disease and alpha-1-antitrypsin (AAT) deficiency is likely due, in part, to underlying emphysema or bronchiectasis.
|
31293581 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha 1-antitrypsin (A1AT) deficiency is related to lung and liver diseases, including pulmonary emphysema and liver cirrhosis in humans.
|
31251477 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha-1-antitrypsin (AAT) deficiency is a hereditary disorder that predisposes to emphysema.
|
30510411 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In human α1-antitrypsin deficiency, homozygous carriers of the Z (E324K) mutation in the gene SERPINA1 have insufficient circulating α1-antitrypsin and are predisposed to emphysema.
|
31091192 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that patients with radiographic emphysema on computed tomography (CT) scan of the chest would represent an enriched population of patients with a higher prevalence of alpha-1 antitrypsin (AAT) carrier or heterozygous state.
|
30956923 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Given that alpha-1 antitrypsin deficiency is associated with accelerated emphysema progression, these findings underscore the importance of early detection of alpha-1 antitrypsin deficiency and reinforce guidelines that endorse alpha-1 antitrypsin deficiency testing in all adults with fixed air-flow obstruction and first-degree relatives of individuals with severe deficiency of alpha-1 antitrypsin.
|
30914495 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We aimed to identify the genetic ecause of early-onset emphysema in a five-generation French-Canadian family free of A1AT deficiency.
|
31000475 |
2019 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha-1-Antitrypsin (AAT) deficiency (AATD) is a hereditary disorder that manifests primarily as pulmonary emphysema and liver cirrhosis.
|
30103740 |
2018 |
|
Pulmonary Emphysema
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The liver aggregates typically lead to fibrosis, cirrhosis, and hepatocellular carcinoma, and the reduced circulating AAT levels can lead to emphysema and chronic obstructive pulmonary diseases.
|
29641323 |
2018 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our findings provide proof of concept for the development of anti-Cela1 therapies to prevent and/or treat AAT-deficient emphysema.
|
29420065 |
2018 |
|
Pulmonary Emphysema
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Reduced levels of AAT allow abnormal degradation of lung tissue, which may ultimately lead to the development of early-onset emphysema.
|
29430176 |
2018 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our current knowledge about the cellular mechanisms underlying serpin-related disorders, the serpinopathies, is predominantly based on studies in cell culture models of disease, particularly for alpha-1 antitrypsin (AAT, SERPINA1) deficiency causing emphysema and the familial encephalopathy with neuroserpin (NS, SERPINI1) inclusion bodies (FENIB).
|
30194596 |
2018 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
Purified plasma-derived AAT has been well tolerated in more than 30 years of use to prevent emphysema in AAT-deficient individuals.
|
29607607 |
2018 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
SERPINA1 encodes the alpha-1 antitrypsin (AAT) protein, and severe deficiency of AAT is a major contributor to pulmonary emphysema and liver diseases.
|
29232161 |
2018 |
|
Pulmonary Emphysema
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Reduced serum levels of alpha-1-antitrypsin may be a common factor of emphysema and HS.
|
28712697 |
2017 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
The putative protective serum concentration is generally considered to be above a threshold of 11 μM/L, and therapeutic augmentation of AAT above this value is believed to retard the progression of emphysema.
|
28769553 |
2017 |
|
Pulmonary Emphysema
|
0.500 |
Biomarker
|
disease |
BEFREE |
It is synthesized mainly by hepatic cells, and widely used to treat patients with emphysema due to congenital deficiency of AAT.
|
28183045 |
2017 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This protein deposition can lead to liver disease, with the resulting low circulating levels of AAT predisposing to early-onset emphysema due to dysregulation of elastinolytic activity in the lungs.
|
28504839 |
2017 |
|
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 to emphysema.
|
28668972 |
2017 |
|
Pulmonary Emphysema
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The alpha-1 antitrypsin (AAT) haplotype Pi*S, when inherited along with the Pi*Z haplotype to form a Pi*SZ genotype, can be associated with pulmonary emphysema in regular smokers, and less frequently with liver disease, panniculitis, and systemic vasculitis in a small percentage of people, but this connection is less well established.
|
28652721 |
2017 |