Alpha-1 antitrypsin (A1AT)
Description of 22 new alpha-1 antitrypsin genetic variants
... Alpha-1 antitrypsin (A1AT) is the main circulating prote- ase inhibitor, protecting the lung parenchyma against pro- teolytic ...attacks. Alpha-1 antitrypsin deficiency (AATD) is ...
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Safety and efficacy of alpha-1-antitrypsin augmentation therapy in the treatment of patients with alpha-1-antitrypsin deficiency
... Abstract: Alpha-1-antitrypsin deficiency (AATD), also known as alpha1-proteinase inhibitor deficiency, is an autosomal co-dominant ...dysfunctional alpha-1-antitrypsin (A1AT) ...
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Alpha-1 Antitrypsin Deficiency A future NBS candidate?
... Condition: Alpha-1 antitrypsin deficiency, alpha-1 proteinase inhibitor deficiency, Alpha-1, AATD.. Alpha-1 antitrypsin: Protein that is potent serine proteinase inhibitor (SERPIN) and[r] ...
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COPD in individuals with the PiMZ alpha-1 antitrypsin genotype
... severe alpha-1 antitrypsin deficiency as a genetic risk factor for emphysema, there has been ongoing debate over whether individuals with intermediate deficiency with one protease inhibitor Z allele ...
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The prevalence of alpha-1 antitrypsin deficiency in Ireland
... Alpha-1 antitrypsin (AAT) deficiency is a hereditary dis- order first reported in the early 1960s when emphysema was described in patients with low plasma levels of AAT protein ...
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A comparative ultrastructural and molecular biological study on Chlamydia psittaci infection in alpha 1 antitrypsin deficiency and non alpha 1 antitrypsin deficiency emphysema versus lung tissue of patients with hamartochondroma
... included five specimens from alpha-1 antitrypsin defi- ciency (AATD) and 34 from non-AATD patients. PCR examinations were conducted on six AATD and 31 non- AATD specimens. History showed a status of ...
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Expression of the alpha 1 antitrypsin gene in mononuclear phagocytes of normal and alpha 1 antitrypsin deficient individuals
... to alpha-1-antitrypsin (alpha 1AT) production in normal and alpha 1AT- deficient individuals, Northern analysis with a human alpha 1AT complementary DNA was used to demonstrate ...
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Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications
... Abstract: Alpha 1 antitrypsin deficiency is a hereditary condition characterized by low alpha 1 proteinase inhibitor (also known as alpha 1 antitrypsin [AAT]) serum ...
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Z type alpha 1 antitrypsin is less competent than M1 type alpha 1 antitrypsin as an inhibitor of neutrophil elastase
... Alpha 1-antitrypsin (alpha 1AT) deficiency resulting from homozygous inheritance of the Z- type alpha 1AT gene is associated with serum alpha 1AT levels of less than 50 mg/dl and ...
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Alpha-1 Antitrypsin Deficiency Presenting with MPO-ANCA Associated Vasculitis and Aortic Dissection
... The combination of alpha-1 antitrypsin (AAT) deficiency, ANCA-vasculitis, and aortic aneurysm has been rarely described in literature. We report an eventually fatal case in a 70-year-old patient who ...
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The impact of alpha-1 antitrypsin augmentation therapy on neutrophil-driven respiratory disease in deficient individuals
... Abstract: Alpha-1 antitrypsin (AAT) is the most abundant serine protease inhibitor circulating in the ...neutrophils, alpha-1 antitrypsin deficiency, alpha-1 ...
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Diabetic retinopathy: could the alpha-1 antitrypsin be a therapeutic option?
... Diabetic retinopathy is one of the most important causes of blindness. The underlying mechanisms of this disease include inflammatory changes and remodeling processes of the extracellular-matrix (ECM) leading to pericyte ...
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Diagnosis of alpha-1 antitrypsin deficiency: a population-based study
... Alpha-1 antitrypsin deficiency (AATD) is a congenital autosomical codominant condition characterized by low plasma levels of alpha-1 antitrypsin (AAT) in the blood and ...levels. ...
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Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency
... Background: Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver ...Siiyama ...
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Hereditary alpha-1-antitrypsin deficiency and its clinical consequences
... approximately 1 in 2,500 and 1 : 5,000 newborns, and is highly dependent on the Scandinavian descent within the ...intravenous alpha-1-antitrypsin augmentation therapy, annual flu ...
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Alpha -1-antitrypsin deficiency, associated diseases and treatments: a review
... cirrhosis. Alpha 1-antitrypsin deficiency is heterogeneous genetic disorder due to mutation of chromosome no ...with alpha 1 antitrypsin deficiency are emphysema, asthma, liver ...
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Mechanism of Inhibition of Porcine Elastase by Human Alpha 1 Antitrypsin
... protein, alpha-1-antitrypsin, with porcine pancreatic elastase was studied by isolating and characterizing their reaction ...Native alpha-1- antitrypsin has a mass ratio (Mr) of ...
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The prevalence of alpha 1 antitrypsin deficiency in Ireland
... Alpha-1 antitrypsin (AAT) deficiency is a hereditary dis- order first reported in the early 1960s when emphysema was described in patients with low plasma levels of AAT protein ...
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Interrelationships between the Human Alveolar Macrophage and Alpha 1 Antitrypsin
... that alpha-1- antitrypsin is present in normal alveolar ...of alpha-1-antitrypsin exhibited less fluorescence when incubated in autologous serum than the same macrophages ...
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Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review
... involved alpha-1 antitrypsin augmentation and 17 concerned surgical treatments (largely ...in 1 s, diffusing capacity of the lungs for carbon monoxide, health status, and exacerbation rates ...
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