Background—Because elastase in 1-antitrypsin deficiency may attack elastin in the arterial wall, we tested whether 1-antitrypsin deficiency is associated with reduced blood pressure, risk of ischemic cerebrovascular (ICVD) and ischemic heart disease (IHD), and longevity. Methods and Results—We genotyped 7963 control subjects from the adult general population of Denmark, 1131 Danish patients wit...

BACKGROUND Because elastase in alpha(1)-antitrypsin deficiency may attack elastin in the arterial wall, we tested whether alpha(1)-antitrypsin deficiency is associated with reduced blood pressure, risk of ischemic cerebrovascular (ICVD) and ischemic heart disease (IHD), and longevity. METHODS AND RESULTS We genotyped 7963 control subjects from the adult general population of Denmark, 1131 Dan...

BACKGROUND Previous estimates of the survival times of patients with alpha 1-antitrypsin deficiency have been based on selected patients. METHODS The survival times of 397 patients with severe alpha 1-antitrypsin deficiency identified by pulmonary impairment (index cases) or through family studies (non-index cases) were compared. RESULTS The overall median survival time was 54.5 years with ...

Forty-two cases of hepatocellular carcinoma (HCC) were examined for the presence of the inclusions of alpha-1-antitrypsin (AAT), which indicate a carrier state for the Pi Z gene. These were found in the non-neoplastic liver tissue of two cases of HCC and in one of the 98 control livers, a difference that is not statistically significant. Typical globules of AAT deficiency were not found in HCC ...

Submit Manuscript | http://medcraveonline.com Abbreviations: A1ATD: Alpha-1 Antitrypsin Deficiency; A1AT: Alpha-1 Antitrypsin; ER: Endoplasmic Reticulum; PAS: Periodic Acid Schiff; SNPs: Single Nucleotide Polymorphisms; ERManI: ER Mannosidase I; IPSC: Induced Pluripotent Stem Cell; GC: GlobuleContaining; GD: Globule Devoid; 4-PBA: 4-Phenylbutyric Acid; GFP: Green Fluorescent Protein; LOPAC: Lib...

In 11 128 apparently healthy 18-year-old men screened for alpha 1-antitrypsin deficiency (AATD) 44 had an alpha 1-antitrypsin (AAT) level of 50% or less of the transferrin reference. In 42 of the 44 the Pi types were: five Pi Z, 10 Pi SZ, three Pi MZ, one presumptive Pi M-, one Pi FM, and 22 Pi M. Probably all Pi Z and most of the Pi SZ subjects were identified. The transferrin reference, howev...

Discovery of AAT deficiency by Laurell and Eriksson in 1963 [2] provided a foundation for current thinking about the pathogenesis of pulmonary emphysema [3,4]. Although AAT deficiency has become one of the best understood genetic disorders at a molecular and protein level, many questions about the clinical disease remain unanswered. Current American and International research projects should pr...