Alpha1 antitrypsin deficiency
ALPHA1-ANTITRYPSIN DEFICIENCY AND DISEASE
... Obstructive lung disease and trypsin inhibi- tors in a1-antitrypsin deficiency.. 840 ALPHA1-ANTITRYPSIN DEFICIENCY[r] ...
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The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosis
... The ten years following this discovery were marked with events of a lifetime for alpha1-antitrypsin deficiency (AATD) in Sweden. In his captivating review [5], Robin Carrell told how the original ...
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Gene and miRNA expression profiles in PBMCs from patients with severe and mild emphysema and PiZZ alpha1-antitrypsin deficiency
... Introduction: COPD has complex etiologies involving both genetic and environmental determinants. Among genetic determinants, the most recognized is a severe PiZZ (Glu342Lys) inherited alpha1-antitrypsin ...
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The Efficiency of Alpha1-antitrypsin Deficiency Detection by Isoelectric Focusing Phenotypes in Relation to Serum Protein Concentrations in COPD Patients
... AAT deficiency (group1), 160 with intermediate level of AAT (group2) and 120 having normal concentration ...AAT deficiency as a results of the lower level of circulating AAT protease inhibitor [5, ...
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Krüppel-like zinc finger proteins in end-stage COPD lungs with and without severe alpha1-antitrypsin deficiency
... An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1- antitrypsin deficiency (AATD). AAT is an acute phase protein, main inhibitor of neutrophil elastase and a ...
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Utility of Nephlometry, ELISA and Serum Protein Electrophoresis as Diagnostic Tools for Alpha1-Antitrypsin Deficiency in COPD and Smokers
... of alpha1-antitrypsin enzyme was done using serum samples of patients who were clinically diagnosed with (COPD), smokers who have a smoking history of at least 10 pack years and normal healthy ...
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Three new Alpha1 Antitrypsin deficiency variants help to define a C Terminal region regulating conformational change and polymerization
... We investigated the molecular behaviour of the novel AATD- associated variants by expressing them in liver-derived cells (Hepa1.6) and performing pulse-chase experiments (Figure 2). As controls we included M and Z AAT, ...
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Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD
... rare deficiency variant I (frequency ...AATD deficiency were detected in this study, we found six out of 187 (5%) subjects positive for so called “ intermediate genetic AAT deficiency ” [mean (SD) ...
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Membranoproliferative Glomerulonephritis in Childhood Cirrhosis Associated With Alpha1-Antitrypsin Deficiency
... Glomerular lesions were not observed in kidney sections of 16 children who died from cirrhosis but.. who were not oAT-deficient.[r] ...
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Alpha1-Antitrypsin Deficiency and Liver Disease in Children: Phenotypes, Manifestations, and Prognosis
... ALPHA,-ANTITRYPSIN DEFICIENCY Patient Diagnosis Age at Follow-up Examination 20 21 22 23 24 25 MZ Phenotype Neonatal hepatitis Neonatal hepatitis Neonatal hepatitis Hepatomegaly (transit[r] ...
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Alpha<sub>1</sub>-antitrypsin deficiency: a clinical-genetic overview
... on alpha1-antitrypsin deficiency sponsored by Talecris to Asthma & COPD Educators in Vancouver, to Respiratory Therapists in Edmonton, and to Respira- tory Physicians at the University of Alberta ...
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Plasma levels of alpha1-antichymotrypsin and secretory leukocyte proteinase inhibitor in healthy and chronic obstructive pulmonary disease (COPD) subjects with and without severe α1-antitrypsin deficiency
... Reports published from the prospective follow-up study of ZZ and SZ individuals up to age 26 years, focusing on clinical health, lung and liver function tests and plasma markers of the protease/protease inhibitor ...
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SP-A binds alpha1-antitrypsin in vitro and reduces the association rate constant for neutrophil elastase
... inherited deficiency, susceptibility to oxidative stress and proteolysis, polymerization) would imply the occurrence of intrinsic risks related to the over- expression of a nearly perfect and immortal ...
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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 ...AAT deficiency is ...
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Alpha-1 Antitrypsin Deficiency Presenting with MPO-ANCA Associated Vasculitis and Aortic Dissection
... alpha-1 antitrypsin (AAT) deficiency, ANCA-vasculitis, and aortic aneurysm has been rarely described in ...AAT deficiency, as two first-line relatives had chronic obstructive pulmonary disease, while ...
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The prevalence of alpha-1 antitrypsin deficiency in Ireland
... The SERPINA1 gene is highly pleiomorphic with over 100 alleles identified to date [9]. Mutations which confer an increased risk of developing pulmonary emphysema and/or liver disease are those in which deficiency ...
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α1-Antitrypsin deficiency and chronic respiratory disorders
... allele is associated with severe AATD with serum levels ranging between ⩽ 29 and 52 mg·dL −1 [7]. Controversial results have been published revealing chronic obstructive pulmonary disease (COPD) risk among protease ...
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Deficiency of the Chemotactic Factor Inactivator in Human Sera with α1 Antitrypsin Deficiency
... deficiency of the chemotactic factor inactivator. When normal human serum and a 1 -AT- deficient human sera are chemotactically activated by incubation with immune precipitates, substantially more chemotactic ...
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Original Article De novo JAG1 gene deletion causes atypical severe Alagille syndrome in a Chinese child
... citrin deficiency, bile acid synthetic defects, alpha-1-antitrypsin deficiency, Wolman disease, neonatal ichthyosis-sclerosing cho- langitis syndrome, cerebrotendinous xantho- matosis, mitochondrial ...
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α1-Antitrypsin Deficiency in Early Childhood
... The clinical and laboratory results during the first half year of life made it convenient to divide the children into the following groups: group I includes infants with increased levels[r] ...
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