Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problemJames K Stoller
Department of Pulmonary, Allergy, and Critical Care Medicine, Cleveland Clinic Foundation, A 90, 9500 Euclid Ave, Cleveland, OH 44195, USA
Chest 128:1989-94. 2005
..We also determined whether individuals living near medical centers with an expressed interest in AAT deficiency experienced shorter diagnostic delays than those living at a distance...
alpha1-Antitrypsin augmentation therapy for PI*MZ heterozygotes: a cautionary noteRobert A Sandhaus
National Jewish Medical and Research Center, Denver, CO, USA
Chest 134:831-4. 2008
..This commentary discusses the treatment of AAT deficiency and the concerns regarding treatment of PI*MZ individuals. We conclude that clinicians should avoid prescribing augmentation therapy for this heterozygote population...
Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiencyWoo Jin Kim
Channing Laboratory and the Division of Pulmonary and Critical Care Medicine, Brigham and Women s Hospital, and Harvard Medical School, Boston, MA, USA
Respir Res 13:16. 2012
..We investigated whether SNPs in the chromosome 15q region would be modifiers for lung function and COPD in AAT deficiency...
- alpha1-Antitrypsin deficiency . 6: new and emerging treatments for alpha1-antitrypsin deficiency
R A Sandhaus
Alpha 1 Program, National Jewish Medical and Research Center, Southside Building G106, 1400 Jackson Street, Denver, CO 80206, USA
Thorax 59:904-9. 2004
..These innovative approaches may prove effective at modifying or eliminating diseases association with AAT deficiency...
- Alpha-1 antitrypsin deficiency: whom to test, whom to treat?
Robert A Sandhaus
Department of Medicine, National Jewish Health, Denver, Colorado 80206, USA
Semin Respir Crit Care Med 31:343-7. 2010
..Additional genetic modifiers of COPD will be found, and the path set by AATD will facilitate their incorporation into our future management of COPD...
- Alcohol use predicts ER visits in individuals with alpha-1 antitrypsin deficiency (AATD) associated COPD
Karin F Hoth
National Jewish Health, Department of Medicine, Denver, CO, United States
COPD 9:417-25. 2012
..Neither measure of problem drinking predicted hospital admission. Screening for recent excessive alcohol use in this population may identify individuals at risk for use of costly emergency health services...
- Risk factors for symptom onset in PI*Z alpha-1 antitrypsin deficiency
Annyce S Mayer
Division of Environmental and Occupational Health Sciences National Jewish Medical and Research Center, Denver, CO 80206, USA
Int J Chron Obstruct Pulmon Dis 1:485-92. 2006
..Age of symptom onset has not been well studied in relationship to other environmental exposures...
- Results of a survey of patients with alpha-1 antitrypsin deficiency
Charlie Strange
Division of Pulmonary and Critical Care Medicine, Department of Medicine, Medical University of South Carolina, Charleston, 29425, USA
Respiration 73:185-90. 2006
..alpha(1)-Antitrypsin deficiency (AATD) is an uncommon genetic disease which occurs in 1-2.5% of Americans with chronic obstructive pulmonary disease (COPD). Little is known about current demographics of AATD...
- Influenza vaccination in subjects with alpha1-antitrypsin deficiency
Michael A Campos
Division of Pulmonary and Critical Care Medicine, University of Miami Miller School of Medicine, PO Box 016960 R 47, Miami, FL 33101, USA
Chest 133:49-55. 2008
..Influenza vaccination practices and their relation to respiratory outcomes in AATD are unknown...
- IL10 polymorphisms are associated with airflow obstruction in severe alpha1-antitrypsin deficiency
Dawn L DeMeo
Brigham and Women s Hospital, Channing Laboratory, 181 Longwood Avenue, Boston, MA 02115, USA
Am J Respir Cell Mol Biol 38:114-20. 2008
..Haplotype analysis of IL10 SNPs suggested the strongest association with IL10 promoter SNPs. IL10 is likely an important modifier gene for the development of COPD in individuals with severe AAT deficiency...
- Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency
Dawn L DeMeo
Channing Laboratory, 181 Longwood Avenue, Boston, Massachusetts 02115, USA
Thorax 62:806-13. 2007
..A study was undertaken to assess the impact of chronic bronchitis, pneumonia, asthma and sex on the development of COPD in individuals with severe AAT deficiency...
- Alpha-1 antitrypsin deficiency: doing the right thing (or start kissing those frogs)
Robert A Sandhaus
COPD 3:123-4. 2006
- Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003
Michael A Campos
Division of Pulmonary and Critical Care Medicine, University of Miami School of Medicine, PO Box 016960 R 47, Miami, FL 33101, USA
Chest 128:1179-86. 2005
..To support current guidelines recommending AATD testing of all individuals with COPD, we analyzed the diagnostic experience of a large cohort of symptomatic patients with AATD...
- Environmental, occupational, and genetic risk factors for alpha-1 antitrypsin deficiency
Richard R Sharp
Baylor College of Medicine, Houston, Texas, USA
Environ Health Perspect 111:1749-52. 2003
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