2010. Ethnic differ- ences in alpha-1 antitrypsin deficiency in the United States of America. Ther Adv Respir Dis 4:63-70.de Serres FJ, Blanco I, Fernandez-Bustillo E. Ethnic differences in α 1 -antitrypsin deficiency in the United States of America. Ther Adv Respir Dis...
队列存在显着的人口异质性(图 1、表 1 ),AATD 队列比 COPDGene 更年轻,并且包含更多的从不吸烟者(p<0.0001,方差分析单向),在 COPDGene 中,作者确定了 11 名和 37 名非洲裔美国受试者,分别患有中度缺陷 Pi*MZ 和 Pi*MS;其他队列主要招募非西班牙裔白人。GRADS 和 Birmingham 队列招募了更多患有 COPD GOLD...
Alpha-1 Antitrypsin Deficiency PI*Z and PI*S Gene Frequency Distribution Using on Maps of the World by an Inverse Distance Weighting (IDW) Multivariate Int... Currently, there is a remarkable lack of genetic epidemiological studies on alpha 1-antitrypsin (AAT) deficiency in about half of the ...
Alpha1antitrypsin deficiency: The clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z: A survey by the British ... Hereditary deficiency of alpha1antitrypsin, the main serum inhibitor of proteolytic enzymes is associated with pulmonary emphysema of early ...
Panniculitis associated with severe alpha 1-antitrypsin deficiency. Treatment and review of the literature. Panniculitis associated with homozygous severe alpha 1-antitrypsin deficiency was documented in three women hospitalized for painful cutaneous and subcutan... KC Smith,MR Pittelkow,WPD Su - 《...
Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder associated mainly with pulmonary emphysema and Chronic Obstructive Pulmonary Disease (COPD). All individuals with COPD regardless of age or ethnicity should be tested for AATD, but in Colombia its prevalence in unknown. Main...
Alpha-1 antitrypsin deficiency associated liver disease (AATD-LD) is a rare genetic disorder and not well-recognized. Predicting the clinical outcomes of AATD-LD and defining patients more likely to progress to advanced liver disease are crucial for bett
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 ...
Individuals with severe alpha-1-antitrypsin (alpha1AT) deficiency (phenotype Pi ZZ) are abnormally liable to develop emphysema, but it is uncertain whether those with partial alpha1AT deficiency (phenotypes Pi MS and MZ) are similarly susceptible. This study was undertaken to determine the frequenc...
Alpha-1-antitrypsin deficiency is the most common inborn error of metabolism leading to liver transplantation, and the second cause of liver transplantation in children after biliary atresia. The authors report the case of a 6-year-old girl, who was suffering from end-stage liver disease secondary...