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1. Introduction
2. Lecture outline
3. Alpha 1-antitrypsin (AAT) deficiency
4. My disclosures of significant relationships
5. A registry of patients with AAT deficiency
6. Primary objective of the registry
7. American thoracic society documents
8. AAT: history
9. First description of AAT deficiency
10. Dr. Eriksson and Dr. Stoller
11. Medline citations for the term AAT deficiency
12. Epidemiology of AAT deficiency
13. Prevalence of AAT deficiency
14. Prevalence of PI*Z AAT deficiency
15. AAT deficiency is frequently undiagnosed
16. Most with AAT deficiency escape detection
17. Alpha 1-antitrypsin deficiency is under-recognized
18. A1AT-deficient readers survey of alpha 1 news (1)
19. A1AT-deficient readers survey of alpha 1 news (2)
20. Diagnostic delay interval by year of diagnosis
21. Trends in diagnosing AAT deficiency
22. Physiology of AAT and pathophysiology
23. Physiology of AAT
24. Structure of the AAT molecule (1)
25. Alpha-1 antitrypsin molecule
26. Function of the AAT molecule (1)
27. Function of the AAT molecule (2)
28. Structure of the AAT molecule (2)
29. Mechanism of loop-sheet polymerization
30. Polymer of Z-type alpha 1-antitrypsin molecules
31. Liver biopsy
32. Genetics of alpha-1 antitrypsin deficiency
33. Protective threshold serum value
34. Alpha 1-antitrypsin deficiency serum levels
35. Clinical features of AAT deficiency (1)
36. Clinical features of AAT deficiency (2)
37. Design of the AAT deficiency registry
38. Cumulative enrollment in AAT deficiency registry
39. AAT deficiency registry: Sex and race
40. AAT deficiency registry: Age
41. AAT deficiency registry: Employment
42. AAT levels by phenotype
43. Lung functions test results
44. FEV1 percent of predicted normal
45. Self reported medical history of patients
46. AAT deficiency registry: Symptom history
47. Smoking accelerates onset of dyspnea
48. FEV1 percent of predicted by smoking
49. Natural history of AAT deficiency
50. 30 year follow-up of AAT deficient individuals (1)
51. 30 year follow-up of AAT deficient individuals (2)
52. 32 year follow-up of AAT deficient individuals (1)
53. 32 year follow-up of AAT deficient individuals (2)
54. FEV1 slope values by smoking status
55. Natural history of AAT deficiency (PI*ZZ)
56. AAT deficiency registry: Overall mortality
57. Mortality rate by initial percent predicted
58. Underlying causes of death
59. Death causes among never smokers with AAT
60. Diagnosis of AAT deficiency
61. Classic chest radiograph
62. A cut from the upper chest
63. A lower cut from the chest
64. Clinical features that should prompt suspicion (1)
65. Clinical features that should prompt suspicion (2)
66. Recommendations for AAT testing (1)
67. Recommendations for AAT testing (2)
68. Recommendations for AAT testing (3)
69. Treatment of AAT deficiency
70. Efficacy criteria for augmentation therapy
71. Therapy for alpha 1-antitrypsin deficiency
72. Studies of efficacy of augmentation therapy
73. Efficacy of intravenous augmentation therapy (1)
74. Efficacy of intravenous augmentation therapy (2)
75. Efficacy of intravenous augmentation therapy (3)
76. Conclusions of clinical efficacy of augmentation (1)
77. Conclusions of clinical efficacy of augmentation (2)
78. New and emerging treatments for AAT (1)
79. New and emerging treatments for AAT (2)
80. ATT: conclusions (1)
81. ATT: conclusions (2)

Topics Covered

• Epidemiology
• Pathophysiology
• Clinical testing
• Clinical features
• Natural history
• Therapy

Links

Series:

• Advances in Chronic Obstructive Pulmonary Disease (COPD)

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Therapeutic Areas:

• Immunology & Inflammation
• Respiratory Diseases

Talk Citation

Stoller, J. (2012, September 9). Alpha-1 antitrypsin deficiency: state of the art [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 21, 2024, from https://doi.org/10.69645/EEBY1176.
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Publication History

• Published on September 9, 2012
• Archived on February 25, 2021

Financial Disclosures

• Dr. Jamie Stoller, Consultant: Talecris/Grifols, Baxter, CSL Behring, Kamada ; Other: Have given grand rounds lectures supported by Takecris/Grifols, CSL Behring, Baxter.