Results 1 to 10 of about 24,734 (239)
Increased Risk of Cholesteatoma in Individuals With Alpha-1 Antitrypsin Deficiency: A Cohort Study. [PDF]
LaryngoscopePatients with AATD had a 3.6‐fold increased risk of cholesteatoma surgery (HR: 3.62) compared to controls. These findings suggest that AATD may contribute to the development of cholesteatoma. ABSTRACT Objective To estimate the risk of cholesteatoma in patients with alpha‐1 antitrypsin deficiency (AATD) compared to the general population using time‐to ...
Ali A, Ravn HA, Dahl M, Djurhuus BD.
europepmc +2 more sources
COVID-19 outcomes in individuals with severe alpha-1 antitrypsin deficiency in Sweden. [PDF]
Sci RepWe 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 ...
Zaigham S, Piitulainen E, Tanash H.
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Pulmonary artery aneurysm as a rare manifestation of Alpha-1 antitrypsin deficiency. [PDF]
Respir Med Case RepAlpha-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.
Colantonio MA, Aggarwal S, Deshwal H.
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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 +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 +9 more
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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
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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
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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
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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 +9 more
doaj +1 more source