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Year Number of Results
1969 1
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1976 12
1977 6
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1980 5
1981 2
1982 5
1983 7
1984 8
1985 9
1986 4
1987 6
1988 7
1989 13
1990 15
1991 4
1992 11
1993 7
1994 12
1995 7
1996 8
1997 10
1998 13
1999 9
2000 13
2001 13
2002 10
2003 16
2004 15
2005 9
2006 12
2007 19
2008 19
2009 21
2010 9
2011 13
2012 25
2013 29
2014 32
2015 32
2016 27
2017 41
2018 30
2019 24
2020 26
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2024 17

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669 results

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Page 1
Alpha-1 antitrypsin deficiency.
Dasí F. Dasí F. Med Clin (Barc). 2024 Apr 12;162(7):336-342. doi: 10.1016/j.medcli.2023.10.014. Epub 2023 Nov 22. Med Clin (Barc). 2024. PMID: 37993348 Free article. Review. English, Spanish.
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitrypsin (AAT) that can lead to serious lung and liver disease in children and adults. AATD patients face challenges such as …
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue level …
Alpha-1 antitrypsin deficiency: outstanding questions and future directions.
Torres-Durán M, Lopez-Campos JL, Barrecheguren M, Miravitlles M, Martinez-Delgado B, Castillo S, Escribano A, Baloira A, Navarro-Garcia MM, Pellicer D, Bañuls L, Magallón M, Casas F, Dasí F. Torres-Durán M, et al. Orphanet J Rare Dis. 2018 Jul 11;13(1):114. doi: 10.1186/s13023-018-0856-9. Orphanet J Rare Dis. 2018. PMID: 29996870 Free PMC article. Review.
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in whi …
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circula …
Fazirsiran for Liver Disease Associated with Alpha(1)-Antitrypsin Deficiency.
Strnad P, Mandorfer M, Choudhury G, Griffiths W, Trautwein C, Loomba R, Schluep T, Chang T, Yi M, Given BD, Hamilton JC, San Martin J, Teckman JH. Strnad P, et al. N Engl J Med. 2022 Aug 11;387(6):514-524. doi: 10.1056/NEJMoa2205416. Epub 2022 Jun 25. N Engl J Med. 2022. PMID: 35748699 Clinical Trial.
The nadir in serum was a reduction of approximately 90%, and treatment was also associated with a reduction in histologic globule burden (from a mean score of 7.4 [scores range from 0 to 9, with higher scores indicating a greater globule burden] at baseline t …
The nadir in serum was a reduction of approximately 90%, and treatment was also associated with a reduction in histologic globule burden (fr …
Augmentation Therapy for Severe Alpha-1 Antitrypsin Deficiency Improves Survival and Is Decoupled from Spirometric Decline-A Multinational Registry Analysis.
Fraughen DD, Ghosh AJ, Hobbs BD, Funk GC, Meischl T, Clarenbach CF, Sievi NA, Schmid-Scherzer K, McElvaney OJ, Murphy MP, Roche AD, Clarke L, Strand M, Vafai-Tabrizi F, Kelly G, Gunaratnam C, Carroll TP, McElvaney NG. Fraughen DD, et al. Am J Respir Crit Care Med. 2023 Nov 1;208(9):964-974. doi: 10.1164/rccm.202305-0863OC. Am J Respir Crit Care Med. 2023. PMID: 37624745 Free PMC article.
Rationale: Intravenous plasma-purified alpha-1 antitrypsin (IV-AAT) has been used as therapy for alpha-1 antitrypsin deficiency (AATD) since 1987. Previous trials (RAPID and RAPID-OLE) demonstrated efficacy in preserving computed tomography of lung den …
Rationale: Intravenous plasma-purified alpha-1 antitrypsin (IV-AAT) has been used as therapy for alpha-1 antitrypsin …
Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial.
Chapman KR, Burdon JG, Piitulainen E, Sandhaus RA, Seersholm N, Stocks JM, Stoel BC, Huang L, Yao Z, Edelman JM, McElvaney NG; RAPID Trial Study Group. Chapman KR, et al. Lancet. 2015 Jul 25;386(9991):360-8. doi: 10.1016/S0140-6736(15)60860-1. Epub 2015 May 27. Lancet. 2015. PMID: 26026936 Clinical Trial.
We recruited eligible non-smokers (aged 18-65 years) in 28 international study centres in 13 countries if they had severe alpha1 antitrypsin deficiency (serum concentration <11 muM) with a forced expiratory volume in 1 s of 35-70% (predicted). We excluded patients if th …
We recruited eligible non-smokers (aged 18-65 years) in 28 international study centres in 13 countries if they had severe alpha1 antitrypsin …
Testing Alpha-1 Antitrypsin Deficiency in Black Populations.
Lafortune P, Zahid K, Ploszaj M, Awadalla E, Carroll TP, Geraghty P. Lafortune P, et al. Adv Respir Med. 2023 Dec 19;92(1):1-12. doi: 10.3390/arm92010001. Adv Respir Med. 2023. PMID: 38392031 Free PMC article. Review.
AATD is more frequently screened for in non-Hispanic White populations. However, AATD is also observed in other ethnic groups and very few studies have documented the mutation frequency in these other ethnic populations. ...
AATD is more frequently screened for in non-Hispanic White populations. However, AATD is also observed in other ethnic groups and ver …
Alpha-1 antitrypsin augmentation therapy.
Wewers MD, Crystal RG. Wewers MD, et al. COPD. 2013 Mar;10 Suppl 1:64-7. doi: 10.3109/15412555.2013.764402. COPD. 2013. PMID: 23527997 Review.
The therapy of alpha-1 antitrypsin deficiency (AATD) is an example of a medical triumph over a common hereditary disease. Based on the understanding of the pathogens of the disease as a deficiency in liver production of alpha-1 antitrypsin (AAT) result …
The therapy of alpha-1 antitrypsin deficiency (AATD) is an example of a medical triumph over a common hereditary …
Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry.
Miravitlles M, Turner AM, Torres-Duran M, Tanash H, Rodríguez-García C, López-Campos JL, Chlumsky J, Guimaraes C, Rodríguez-Hermosa JL, Corsico A, Martinez-González C, Hernández-Pérez JM, Bustamante A, Parr DG, Casas-Maldonado F, Hecimovic A, Janssens W, Lara B, Barrecheguren M, González C, Stolk J, Esquinas C, Clarenbach CF. Miravitlles M, et al. Respir Res. 2022 Dec 16;23(1):352. doi: 10.1186/s12931-022-02275-4. Respir Res. 2022. PMID: 36527073 Free PMC article.
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterisi …
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of …
Alpha1-antitrypsin deficiency: An updated review.
Mornex JF, Traclet J, Guillaud O, Dechomet M, Lombard C, Ruiz M, Revel D, Reix P, Cottin V. Mornex JF, et al. Presse Med. 2023 Sep;52(3):104170. doi: 10.1016/j.lpm.2023.104170. Epub 2023 Jul 29. Presse Med. 2023. PMID: 37517655 Review.
Based on a randomized clinical trial, augmentation therapy is indicated in non-smoking adults less than 70 years of age with emphysema at chest CT, confirmed homozygous AATD, and FEV1 between 35% and 70% of predicted. In contrast Z heterozygosis (MZ or SZ) brings a risk of …
Based on a randomized clinical trial, augmentation therapy is indicated in non-smoking adults less than 70 years of age with emphysema at ch …
Relationship between alpha-1 antitrypsin deficiency and obstructive sleep apnea.
Megenhardt L, Ransdell S, Clark-LoCascio J, Pleasants RA, Brantly M, Strange C. Megenhardt L, et al. Sleep Breath. 2021 Dec;25(4):2091-2097. doi: 10.1007/s11325-021-02386-0. Epub 2021 Apr 30. Sleep Breath. 2021. PMID: 33931809
PURPOSE: This study aimed to identify if individuals with mild to severe alpha-1 antitrypsin deficiency (AATD) are at higher risk for developing obstructive sleep apnea (OSA) than the general population. ...The 11.2% prevalence of diagnosed OSA in the …
PURPOSE: This study aimed to identify if individuals with mild to severe alpha-1 antitrypsin deficiency (AATD) a …
669 results