Results 11 to 20 of about 12,377 (185)
COVID-19 outcomes in individuals with severe alpha-1 antitrypsin deficiency in Sweden [PDF]
Scientific ReportsWe have previously found using questionnaire/interview data on COVID-19 outcomes, that most subjects with severe alpha-1-antitrypsin deficiency (AATD) exhibit mild COVID-19 infection and those who additionally have COPD are at increased risk of severe ...
Suneela Zaigham +2 more
doaj +2 more sources
International Journal of COPD, 2018 Kenneth R Chapman,1 Joanna Chorostowska-Wynimko,2 A Rembert Koczulla,3 Ilaria Ferrarotti,4 Noel G McElvaney5 1Department of Medicine, University of Toronto, Toronto, ON, Canada; 2Department of Genetics and Clinical Immunology, National Institute of ...
Chapman KR +4 more
doaj +2 more sources
Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency
Acta Médica Portuguesa, 2022 Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining ...
Bebiana Conde +9 more
doaj +1 more source
Association of alpha-1 antitrypsin level and lung function in patients with chronic obstructive pulmonary disease [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2017 Introduction/Objective. Alpha-1 antitrypsin deficiency is a well established inherited risk factor for chronic obstructive pulmonary disease (COPD); however, alpha-1 antitrypsin level may result in different lung function reduction.
Serapinas Danielius +5 more
doaj +1 more source
Alpha-1 Antitrypsin Deficiency Liver Disease [PDF]
Clinics in Liver Disease, 2021 Liver disease in homozygous ZZ alpha-1 antitrypsin (AAT) deficiency occurs due to the accumulation of large quantities of AAT mutant Z protein polymers in the liver. The mutant Z protein folds improperly during biogenesis and is retained within the hepatocytes rather than appropriately secreted.
Dhiren, Patel +2 more
openaire +3 more sources
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
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 +12 more
doaj +1 more source
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 +9 more
doaj +1 more source
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 +6 more
doaj +1 more source
Alpha-1 Antitrypsin Deficiency: Home Therapy
Frontiers in Pharmacology, 2021 While available in only a few countries, home therapy is a possible strategy for the treatment of alpha-1 antitrypsin deficiency. We want to describe our experience in the management of human alpha-1 antitrypsin using home care intravenous augmentation ...
Anna Annunziata +5 more
doaj +1 more source