Results 21 to 30 of about 32,701 (226)

Ferret models of alpha-1 antitrypsin deficiency develop lung and liver disease

JCI Insight, 2022
Alpha-1 antitrypsin deficiency (AATD) is the most common genetic cause and risk factor for chronic obstructive pulmonary disease, but the field lacks a large-animal model that allows for longitudinal assessment of pulmonary function. We hypothesized that
N. He, Xiaoming Liu, Amber R. Vegter, T. Evans, Jaimie S. Gray, Junfeng Guo, S. Moll, Lydia J. Guo, M. Luo, Ningxia Ma, Xingshen Sun, B. Liang, Ziying Yan, Zehua Feng, Lisi Qi, A. Joshi, W. Shahin, Y. Yi, K. Gibson-Corley, E. Hoffman, Kai Wang, C. Mueller, J. Engelhardt, B. H. Rosen   +23 more
semanticscholar   +1 more source

Alpha-1 antitrypsin deficiency [PDF]

Archives of Disease in Childhood, 2001
α-1 antitrypsin is synthesised in the liver and protects lung alveolar tissues from destruction by neutrophil elastase. α-1 antitrypsin deficiency is a common autosomal recessive condition (1:1600 to 1:1800) in which liver disease results from retention of abnormal polymerised α-1 antitrypsin in the endoplasmic reticulum of hepatocytes, and emphysema ...
Primhak, R.A., Tanner, M.S.
openaire   +4 more sources

Alpha-1 Antitrypsin Deficiency: Principles of Care

Acta Médica Portuguesa, 2020
Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and ...
Joana F. Rodrigues, Alexandra Mineiro, António Reis, David G. Ventura, Fernando Fernandez-Llimos, Filipa Costa, Joana Gomes, José Manuel Silva, Paulo Lopes, Carlos Robalo Cordeiro   +9 more
doaj   +1 more source

The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry

Respiratory Research, 2023
Background Alpha-1-antitrypsin (AAT) deficiency (AATD) is a genetic disorder that can manifest as lung disease. A delay between onset of symptoms and diagnosis of AATD is common and associated with worse clinical status and more advanced disease stage ...
Tobias Meischl, Karin Schmid-Scherzer, Florian Vafai-Tabrizi, Gert Wurzinger, Eva Traunmüller-Wurm, Kristina Kutics, Markus Rauter, Fikreta Grabcanovic-Musija, Simona Müller, Norbert Kaufmann, Judith Löffler-Ragg, Arschang Valipour, Georg-Christian Funk   +12 more
doaj   +1 more source

Alpha-1 Antitrypsin Deficiency Associated Panniculitis.

Journal of American Academy of Dermatology, 2021
BACKGROUND Panniculitis represents a rare and potentially lethal manifestation of alpha-1 antitrypsin deficiency (AATD). Evidence regarding management is limited to case reports and small case series.
A. Franciosi, J. Ralph, N. O'Farrell, C. Buckley, C. Gulmann, M. O’Kane, T. Carroll, N. McElvaney   +7 more
semanticscholar   +1 more source

Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency

Orphanet Journal of Rare Diseases, 2021
Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an increase in alpha-1 antitrypsin deficient alleles ...
Cormac McCarthy, Emmanuelle Bugnet, Amira Benattia, Michael P. Keane, Benoit Vedie, Gwenaël Lorillon, Abdellatif Tazi   +6 more
doaj   +1 more source

Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency

Therapeutic Advances in Chronic Disease, 2021
Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene, which encodes the alpha-1 antitrypsin (AAT) protein. Currently, over 200 SERPINA1 variants have been identified, many of which cause the quantitative and/or qualitative ...
K. Foil
semanticscholar   +1 more source

COVID-19 infection in severe Alpha 1-antitrypsin deficiency: Looking for a rationale

Respiratory Medicine, 2021
The clinical manifestations of COVID-19 are heterogeneous: 46.4% of patients admitted into hospital reported to have at least one comorbidity. Comorbidities such as COPD, diabetes, hypertension and malignancy predispose patients with Covid-19 to adverse ...
S. Ottaviani, I. Ferrarotti, A. Balderacchi, V. Barzon, A. Corino, A. De Silvestri, D. Piloni, Francesca Mariani, A. Corsico   +8 more
semanticscholar   +1 more source

Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD

Multidisciplinary Respiratory Medicine, 2017
Background Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens ...
Ardak Zhumagaliyeva, Stefania Ottaviani, Timm Greulich, Marina Gorrini, Claus Vogelmeier, Ludmila Karazhanova, Gulmira Nurgazina, Annalisa DeSilvestri, Victor Kotke, Valentina Barzon, Michele Zorzetto, Angelo Corsico, Ilaria Ferrarotti   +12 more
doaj   +1 more source

Management of lung disease in alpha-1 antitrypsin deficiency: what we do and what we do not know

Therapeutic Advances in Chronic Disease, 2021
Management of lung disease in patients with alpha-1 antitrypsin deficiency (AATD) includes both non-pharmacological and pharmacological approaches. Lifestyle changes with avoidance of environmental pollutants, including tobacco smoke, improving exercise ...
I. Barjaktarevic, Michael A Campos
semanticscholar   +1 more source