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...

The process of elastin and collagen fiber destruction was presented based on the example of the changes taking place in the course of chronic obstructive pulmonary disease and primary spontaneous pneumothorax. In 1963, when analyzing patients with α1 antitrypsin deficiency, Dr Laurell and Dr Eriksson hypothesized that elastolysis plays a role in the pathogenesis of emphysema, which marked the b...

Fractionated plasma alpha1-antitrypsin is widely-used as replacement therapy in patients with Z alpha1-antitrypsin deficiency-related emphysema. We have recently shown that purified antitrypsin may be induced to adopt an inactive latent conformation by heating at high temperatures in stabilizing concentrations of sodium citrate. Such a conformation was predicted to be present in commercial prep...

The BODE (body mass index, airflow obstruction, dyspnoea and exercise capacity) index is used to decide on referral and transplantation of patients with chronic obstructive pulmonary disease (COPD). The BODE index has not been validated in patients with a1-antitrypsin deficiency, who account for 15% of COPD patients undergoing lung transplantation. We sought to validate the BODE index in a1-ant...

INTRODUCTION People with α1-antitrypsin deficiency are at increased risk for the development of chronic obstructive pulmonary disease. Previous retrospective epidemiologic studies have found that exposure to occupational dust among those with α1-antitrypsin deficiency is a risk factor at the group level for poorer lung function, but on an individual clinical basis, a causal attribution can be d...

Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 820 Goals, Organization of the Project, and Timeline . . . . . 820 Summary of Main Recommendations Regarding Diagnosis and Management by the Alpha-1 Antitrypsin Deficiency Task Force . . . . . . . . . . . . . 820 Clinical Recognition of AAT Deficiency . . . . . . . . . . 820 Genetic Testing for AAT Deficiency . ....

OBJECTIVE To ascertain the distribution of alpha 1 antitrypsin genotypes and correlate it with the severity of pulmonary disease in patients with cystic fibrosis. METHOD A clinical and laboratory cross sectional study of 70 patients at the Universidade Estadual de Campinas teaching hospital. Cystic fibrosis diagnoses was confirmed by both clinical and laboratory methods. The severity of cysti...