Hyperpolarized 3He MRI ventilatory apparent diffusion coefficient of alpha‐1 antitrypsin deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Magnetic Resonance Imaging"
DOI: 10.1002/jmri.26202
Abstract: Alpha-1 antitrypsin deficiency (AATD) leads to disabling chronic obstructive pulmonary disease (COPD). Current therapy aimed at slowing lung disease progression includes exogenous alpha-1 antitrypsin augmentation therapy, but there are few potential new treatments under development.… read more here.
Keywords: diffusion; time; alpha antitrypsin; mri ... See more keywords
Practical Methods for Assessing Emphysema Severity Based on Estimation of Linear Mean Intercept (Lm) in the Context of Animal Models of Alpha-1 Antitrypsin Deficiency.
Sign Up to like & getrecommendations! Published in 2017 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7163-3_9
Abstract: Alpha-1 antitrypsin deficiency is typified by panacinar emphysema in humans. Whilst animal models of (α1A-TD) that more accurately reflect the histology and molecular pathology of α1A-TD are in development, it is timely to discuss methods… read more here.
Keywords: emphysema severity; linear mean; alpha antitrypsin; severity ... See more keywords
An integrative analysis to distinguish between emphysema (EML) and alpha-1 antitrypsin deficiency-related emphysema (ADL)-A systems biology approach.
Sign Up to like & getrecommendations! Published in 2021 at "Advances in protein chemistry and structural biology"
DOI: 10.1016/bs.apcsb.2021.02.004
Abstract: Lung Emphysema is an abnormal enlargement of the air sacs followed by the destruction of alveolar walls without any prominent fibrosis. This study primarily identifies the differentially expressed genes (DEGs), interactions between them, and their… read more here.
Keywords: biology; antitrypsin deficiency; deficiency related; emphysema ... See more keywords
Health-Related Quality of Life in Patients With Alpha-1 Antitrypsin Deficiency: A Cross Sectional Study
Sign Up to like & getrecommendations! Published in 2017 at "Archivos De Bronconeumologia"
DOI: 10.1016/j.arbr.2016.05.013
Abstract: Abstract Background Measures of health related quality of life (HRQoL) in patients with α1-antitrypsin deficiency (AATD) can help to determine the impact of the disease and provide an important insight into the intervention outcomes. There… read more here.
Keywords: cross sectional; health related; study; antitrypsin deficiency ... See more keywords
Investigating the link between Alpha-1 Antitrypsin Deficiency and Abdominal Aortic Aneurysms.
Sign Up to like & getrecommendations! Published in 2021 at "Annals of vascular surgery"
DOI: 10.1016/j.avsg.2021.05.064
Abstract: OBJECTIVES Alpha-1-Antitrypsin (AAT) is one of the major plasmatic protease inhibitors. In the last decade, an association between Alpha-1-Antitrypsin Deficiency (AATD) and Abdominal Aortic Aneurysms (AAA) has been hypothesized. Multiple factors may be involved in… read more here.
Keywords: aortic aneurysms; alpha antitrypsin; antitrypsin deficiency; abdominal aortic ... See more keywords
Host genomics of COVID-19: Evidence point towards Alpha 1 antitrypsin deficiency as a putative risk factor for higher mortality rate
Sign Up to like & getrecommendations! Published in 2021 at "Medical Hypotheses"
DOI: 10.1016/j.mehy.2021.110485
Abstract: Corona Virus Disease 2019 (COVID-19) has emerged as a pandemic leading to unprecedented disruption of global health and economy. Transmembrane protease serine 2 (TMPRSS2) has been found to be critical in priming the viral spike… read more here.
Keywords: antitrypsin deficiency; host; alpha antitrypsin; risk factor ... See more keywords
Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression
Sign Up to like & getrecommendations! Published in 2018 at "Respiratory Medicine Case Reports"
DOI: 10.1016/j.rmcr.2018.04.005
Abstract: Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here we report… read more here.
Keywords: null q0cairo; antitrypsin; alpha antitrypsin; antitrypsin deficiency ... See more keywords
Labelling Alpha-1 antitrypsin deficiency in the medical record - A call to action.
Sign Up to like & getrecommendations! Published in 2022 at "Respiratory medicine"
DOI: 10.1016/j.rmed.2022.106749
Abstract: Alpha-1 antitrypsin deficiency (AATD) is an autosomal codominant genetic cause of chronic obstructive pulmonary disease (COPD) with over 100 allelic variants described. The normal allele is termed "M"; whereas, the "Z" and "S" alleles are… read more here.
Keywords: antitrypsin deficiency; alpha antitrypsin; record; medical record ... See more keywords
Liver Fibrosis and Metabolic Alterations in Adults with Alpha1 Antitrypsin Deficiency Caused by the Pi*ZZ Mutation.
Sign Up to like & getrecommendations! Published in 2019 at "Gastroenterology"
DOI: 10.1053/j.gastro.2019.05.013
Abstract: BACKGROUND Alpha1 antitrypsin deficiency (AATD) is among the most common genetic disorders. Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the Pi*Z mutation). Pi*ZZ carriers… read more here.
Keywords: fibrosis; liver fibrosis; antitrypsin deficiency; mutation ... See more keywords
[Alpha-1 Antitrypsin Deficiency (AATD) - D-A-CH-Expert Statement].
Sign Up to like & getrecommendations! Published in 2020 at "Pneumologie"
DOI: 10.1055/a-1143-8186
Abstract: Diagnostik und Therapie des Alpha-1-Antitrypsin-Mangels (AATM) zu erstellen. Die Erstellung des Dokuments wurde durch die Deutsche Gesellschaft für Pneumologie und die Deutsche Atemwegsliga initiiert. Es spiegelt die aktuelle Datenlage wider und bezieht sich auf die… read more here.
Keywords: expert statement; alpha; alpha antitrypsin; aatd expert ... See more keywords
Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Asthma"
DOI: 10.1080/02770903.2020.1827421
Abstract: Abstract Background: Although the etiology and disease mechanisms of asthma and alpha-1 antitrypsin deficiency (AATD) are distinct, several reports indicate that asthma is common in AATD patients, however the relationships between asthma and AATD are… read more here.
Keywords: antitrypsin deficiency; asthmatic patients; atopy asthmatic; aatd patients ... See more keywords