In RA, however, the association between pulmonary interstitial fibrosis and 1-antitrypsin variants was striking. Interstitial fibrosis was seen on chest roentgenogram in only 1 of 30 subjects apparently homozygous for M1 (the wild type or normal phenotype), compared with 13 of 32 patients with ...
Alpha-1-antitrypsin Pi phenotyping was performed by thin-layer isoelectric focusing on samples from 1653 healthy white blood donors. The variants were confirmed by the acid-starch gel technique and crossed immuno-electrophoresis, with complete agreement between the two methods. The allele frequencies in...
Alpha-1-antitrypsin (Pi) phenotypes have been determined in 40 patients suffering from Down's syndrome. Thirty-six of the patients were found to have a normal M phenotype, whereas two deficient phenotypes of the MS variety were observed. In addition, two M variants were noted. The ...
Different isoenzymes exist which together form the protease inhibitor system. Phenotype M is the most common and certain variants (S and Z) are associated with alpha-1-antitrypsin deficiency which can lead to emphysema and liver disease. 1mg P165-5...
Alpha 1-antitrypsin phenotypes in acute anterior uveitis. The alpha 1-antitrypsin phenotype PiMZ has been reported to have a higher than normal incidence in patients with acute anterior uveitis, indicating an impo... IR Fearnley,DJ Spalton,AM Ward,... - 《British Journal of Ophthalmology》 被...
Alpha-1 antitrypsin deficiency (AATD, OMIM #613490) is a rare metabolic disorder affecting lungs and liver. The purpose of this study is to assess the impact of the US orphan drug act on AATD by providing a quantitative clinical-regulatory insight into the status of FDA orphan drug approval...
The finding is recorded of typical a1-antitrypsin globules, confirmed by immunofluorescence and immunoperoxidase methods, in the hepatocytes of a patient shown to have a normal serum antitrypsin level and normal phenotype (TiM) for a1-antitrypsin. The identification of such globules can no longer be...
Obstructive lung disease and alpha1-antitrypsin deficiency gene heterozygosity Science (1969) RM Bruce et al. Collaborative study to assess risk of lung disease in Pi MZ phenotype subjects Am Rev Respir Dis (1984) J Lieberman This week's citation classic Current Contents (1983) J Lieberman et ...
Alpha-1 antitrypsin (AAT) testing is performed to detect a deficiency of the AAT protein. The AAT protein is involved in protecting the lungs and liver from damage. AAT deficiency is an inherited disorder that heightens the risk ofchronic obstructive pulmonary disorder (COPD), a serious lung co...
Using isoelectric focusing in polyacrylamide gel, alpha-1-antitrypsin phenotyping was carried out in 1,000 normal Nigerians and in 25 with hepatocellular carcinoma, 17 with cirrhosis of the liver and 193 with neonatal jaundice. The percentage frequency of the homozygous alpha-1-antitrypsin deficiency...