Anxiety Related to Genetic Testing for Alpha-1 Antitrypsin Deficiency and Cystic Fibrosis in COPD and/or Bronchiectasis Patients

2008 ◽  
Vol 11 (3) ◽  
pp. 135-140 ◽  
Author(s):  
Marilyn E. Coors ◽  
Arnold H. Levinson ◽  
Gwen A. Huitt
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Alpha 1 antitrypsin deficiency prevalence measured by genetic testing with salivary swab in patients with chronic airway obstruction

2020 ◽  
Author(s):  
Walther Ivan Giron Matute ◽  
Margarita Hernandez Yañez ◽  
Rosa Maria Rojas Moreno-Tomé ◽  
María Gallardo Bermejo ◽  
Angela Gómez Sacristán ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Airway Obstruction ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Chronic Airway

Screening for respiratory disease

2018 ◽  
Author(s):  
Abdul Nasimudeen
Keyword(s):  
Cystic Fibrosis ◽  
Respiratory Diseases ◽  
Sleep Apnoea ◽  
Healthy Population ◽  
Obstructive Sleep ◽  
Screening Strategies ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Routine screening for respiratory diseases is currently not available to the general healthy population, with the exception of screening for cystic fibrosis. This chapter discusses the screening strategies in place for cystic fibrosis, TB, and other conditions, such as COPD, lung cancer, alpha-1 antitrypsin deficiency, pulmonary hypertension, pulmonary arteriovenous malformation, and obstructive sleep apnoea, for which screening can be applied. While screening has the potential to improve quality of life through early diagnosis and management, it is not an easy process and cannot offer a guarantee of protection.

scholarly journals Oxidative Stress and Endoplasmic Reticulum Stress in Rare Respiratory Diseases

2021 ◽  
Vol 10 (6) ◽  
pp. 1268
Author(s):  
María Magallón ◽  
Ana Esther Carrión ◽  
Lucía Bañuls ◽  
Daniel Pellicer ◽  
Silvia Castillo ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Cystic Fibrosis ◽  
Endoplasmic Reticulum ◽  
Primary Ciliary Dyskinesia ◽  
Respiratory Diseases ◽  
Therapeutic Agents ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Ciliary Dyskinesia

Several studies have shown that some rare respiratory diseases, such as alpha-1 antitrypsin deficiency (AATD), idiopathic pulmonary fibrosis (IPF), cystic fibrosis (CF), and primary ciliary dyskinesia (PCD) present oxidative stress (OS) and endoplasmic reticulum (ER) stress. Their involvement in these pathologies and the use of antioxidants as therapeutic agents to minimize the effects of OS are discussed in this review.

Barriers to Genetic Testing Among Persons at Risk for Alpha-1 Antitrypsin Deficiency

2008 ◽  
Vol 12 (4) ◽  
pp. 501-505 ◽  
Author(s):  
Marguerite R. Dickson ◽  
Cindy L. Carter ◽  
Matthew J. Carpenter ◽  
Rebecca L. McClure ◽  
Dawn A. McGee ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

scholarly journals Alpha 1 antitrypsin deficiency in non cystic fibrosis bronchiectasis

2013 ◽  
Vol 62 (2) ◽  
pp. 311-317 ◽  
Author(s):  
Mohamed Shahat Badawy ◽  
Atef Farouk El Qarn ◽  
Hamdy Ali Mohamadeen
Keyword(s):  
Cystic Fibrosis ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin
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