Results 1 to 10 of about 24,735 (239)

COVID-19 outcomes in individuals with severe alpha-1 antitrypsin deficiency in Sweden [PDF]

Scientific Reports
We 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, Eeva Piitulainen, Hanan Tanash   +2 more
doaj   +2 more sources

Pulmonary artery aneurysm as a rare manifestation of Alpha-1 antitrypsin deficiency [PDF]

Respiratory Medicine Case Reports
Alpha-1 antitrypsin is a relatively well-known genetic disease known to primarily affect the lungs and liver. Extrapulmonary manifestations of this disease have been reported, including vascular aneurysms.
Mark A. Colantonio, Sanjana Aggarwal, Himanshu Deshwal   +2 more
doaj   +2 more sources

Alpha-1 antitrypsin deficiency [PDF]

Respiratory Medicine CME, 2010
To review the topic of alpha-1 antitrypsin (AAT) deficiency.Narrative literature review.Much work has been carried out on this condition with many questions being answered but still further questions remain.AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly.
Kelly, Emer, Greene, Catherine M, Carroll, Tomas P, McElvaney, Noel G, O'Neill, Shane J   +4 more
  +9 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, Filipa Costa, Joana Gomes, António Paulo Lopes, Maria Alexandra Mineiro, Orlando Rodrigues, Cristina Santos, Luísa Semedo, Maria Sucena, Catarina Guimarães   +9 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, Shannon L, McAllister, Jeffrey H, Teckman   +2 more
openaire   +3 more sources

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, Nutautiene Ruta, Pukinskaite Ruta, Bartkeviciene Daiva, Barkauskiene Diana, Sakalauskas Raimundas   +5 more
doaj   +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

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: 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

Utility of routine screening for alpha-1 antitrypsin deficiency in patients with bronchiectasis [PDF]

, 2020
Alpha-1 antitrypsin deficiency (AATD) is a cause of bronchiectasis. Guidelines for bronchiectasis from the British Thoracic Society do not recommend to routinely test patients for AATD. In contrast, guidelines for AATD recommend routine screening.
Carreto, Luis, Chalmers, James D., Donovan, Jackie, Fardon, Tom, Finch, Simon, Furrie, Elisabeth, Loebinger, Michael, Morrison, Meghan, Tan, Gan Liang, Wilson, Robert   +9 more
core   +3 more sources