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antitrypsin deficiency

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https://www.readbyqxmd.com/read/28943279/lobar-emphysema-distribution-is-associated-with-5-year-radiologic-disease-progression
#1
Adel Boueiz, Yale Chang, Michael H Cho, George R Washko, Raul San José Estépar, Russell P Bowler, James D Crapo, Dawn L DeMeo, Jennifer G Dy, Edwin K Silverman, Peter J Castaldi
BACKGROUND: Emphysema has considerable variability in its regional distribution. Cranio-caudal emphysema distribution is an important predictor of the response to lung volume reduction. However, there is little consensus regarding how to define upper and lower-lobe predominant emphysema subtypes. Consequently, the clinical and genetic associations with these subtypes are poorly characterized. METHODS: We sought to identify subgroups characterized by upper or lower lobe emphysema predominance and comparable amounts of total emphysema by analyzing data from 9,210 non-alpha-1 antitrypsin deficient smokers in the COPDGene cohort...
September 21, 2017: Chest
https://www.readbyqxmd.com/read/28929906/the-important-role-of-primary-care-providers-in-the-detection-of-alpha-1-antitrypsin-deficiency
#2
Jorge E Lascano, Michael A Campos
OBJECTIVE: Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder that can cause chronic obstructive pulmonary disease (COPD) and liver cirrhosis, two clinical conditions commonly seen by primary care physicians. AATD is estimated to affect 1/4000-1/5000 people in the United States and 1-2% of all COPD cases. METHODS: PubMed was searched for relevant articles using AAT/AATD-related terms. RESULTS: Unfortunately, <10% of symptomatic individuals have been properly diagnosed primarily due to the underdiagnosis of COPD and the lack of awareness of AATD as a possible underlying cause...
September 20, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28927525/alpha-1-antitrypsin-deficiency-genetic-variations-clinical-manifestations-and-therapeutic-interventions
#3
REVIEW
Younis Mohammad Hazari, Arif Bashir, Mudasir Habib, Samirul Bashir, Huma Habib, M Abul Qasim, Naveed Nazir Shah, Ehtishamul Haq, Jeffrey Teckman, Khalid Majid Fazili
Alpha-1-antitrypsin (AAT) is an acute phase secretory glycoprotein that inhibits neutrophil proteases like elastase and is considered as the archetype of a family of structurally related serine-protease inhibitors termed serpins. Serum AAT predominantly originates from liver and increases three to five fold during host response to tissue injury and inflammation. The AAT deficiency is unique among the protein-misfolding diseases in that it causes target organ injury by both loss-of-function and gain-of-toxic function mechanisms...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28915894/cardiovascular-risk-in-patients-with-alpha-1-antitrypsin-deficiency
#4
Sebastian Fähndrich, Frank Biertz, Annika Karch, Björn Kleibrink, Armin Koch, Helmut Teschler, Tobias Welte, Hans-Ulrich Kauczor, Sabina Janciauskiene, Rudolf A Jörres, Timm Greulich, Claus F Vogelmeier, Robert Bals
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene that is associated with the development of a COPD like lung disease. The comorbidities in patients with AATD-related lung diseases are not well defined. The aim of this study was to analyze the clinical phenotype of AATD patients within the German COPD cohort study COSYCONET ("COPD and SYstemic consequences-COmorbidities NETwork") cohort focusing on the distribution of comorbidities...
September 15, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28889108/survival-in-individuals-with-severe-alpha-1-antitrypsin-deficiency-pizz-in-comparison-to-a-general-population-with-known-smoking-habits
#5
Hanan A Tanash, Magnus Ekström, Eva Rönmark, Anne Lindberg, Eeva Piitulainen
Knowledge about the natural history of severe alpha 1-antitrypsin (AAT) deficiency (PiZZ) is limited. Our aim was to compare the survival of PiZZ individuals with randomly selected controls from the Swedish general population.The PiZZ subjects (n=1585) were selected from the Swedish National AATD Register. The controls (n=5999) were randomly selected from the Swedish population register. Smoking habits were known for all subjects.Median follow-up times for the PiZZ subjects (731 never-smokers) and controls (3179 never-smokers) were 12 and 17 years, respectively (p<0...
September 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28887821/serpina1-and-man1b1-polymorphisms-are-not-linked-to-severe-liver-disease-in-a-french-cohort-of-alpha-1-antitrypsin-deficiency-children
#6
Philippe Joly, Alain Lachaux, Mathias Ruiz, Lioara Restier, Abdelhouaed Belmalih, Colette Chapuis-Cellier, Alain Francina, Céline Renoux, Marion Bouchecareilh
BACKGROUND & AIMS: Fifteen to twenty percent of alpha-1 antitrypsin deficiency patients (A1ATD) have a severe liver outcome (portal hypertension - PHT) during childhood. Since they all share the same ZZSERPINA1 genotype and that environmental factors such as alcohol cannot be advanced, the presence of modifier genes is now well recognized. SNPs located on the SERPINA1 and MAN1B1 genes have already been tested in very few studies with contradictory or not replicated results. METHODS: Our genotype-phenotype correlation study, performed on 92 ZZ children, aimed at determining once and for all if SERPINA1 and MAN1B1 polymorphisms may be implied in the onset of PHT...
September 8, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28887542/genome-wide-analysis-of-health-related-biomarkers-in-the-uk-household-longitudinal-study-reveals-novel-associations
#7
Bram P Prins, Karoline B Kuchenbaecker, Yanchun Bao, Melissa Smart, Delilah Zabaneh, Ghazaleh Fatemifar, Jian'an Luan, Nick J Wareham, Robert A Scott, John R B Perry, Claudia Langenberg, Michaela Benzeval, Meena Kumari, Eleftheria Zeggini
Serum biomarker levels are associated with the risk of complex diseases. Here, we aimed to gain insights into the genetic architecture of biomarker traits which can reflect health status. We performed genome-wide association analyses for twenty serum biomarkers involved in organ function and reproductive health. 9,961 individuals from the UK Household Longitudinal Study were genotyped using the Illumina HumanCoreExome array and variants imputed to the 1000 Genomes Project and UK10K haplotypes. We establish a polygenic heritability for all biomarkers, confirm associations of fifty-four established loci, and identify five novel, replicating associations at genome-wide significance...
September 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28882403/biochemical-comparison-of-four-commercially-available-human-%C3%AE-1-proteinase-inhibitors-for-treatment-of-%C3%AE-1-antitrypsin-deficiency
#8
David J Boerema, Bo An, Ronak P Gandhi, Randy Papineau, Ed Regnier, Anna Wilder, Alexander Molitor, Andrew P Tang, Scott M Kee
Intravenous therapy with purified plasma-derived alpha1-proteinase inhibitor (α1-PI) concentrates is the only specific treatment for α1-PI deficiency. For the therapy to be safe and efficacious, α1-PI concentrates should be highly pure and contain high amounts of functional protein. This study compared the four plasma-derived α1-PI products commercially available in Europe (Respreeza, Prolastin, Alfalastin, Trypsone) by biochemical methods with respect to function, purity, structure, and chemical modifications...
September 4, 2017: Biologicals: Journal of the International Association of Biological Standardization
https://www.readbyqxmd.com/read/28881426/autoantibody-production-in-rheumatoid-arthritis-associated-with-alpha-1-antitrypsin-deficiency-is-complex-and-likely-driven-by-inflammation-and-neutrophil-dysfunction
#9
Cormac McCarthy, Carl Orr, Ursula Fearon, Douglas J Veale, Emer P Reeves, Noel G McElvaney
We thank Drs Hutchinson and Eggleton for their interest in our report and for raising some interesting points. While we believe there is some merit in the issues they raise, we do not believe these invalidate the data we have presented or the conclusions we made in our initial report. This article is protected by copyright. All rights reserved.
September 7, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28837509/a-rare-phenotype-of-alpha-1-antitrypsin-deficiency-due-to-pi-is-in-a-newborn-with-liver-disease
#10
Alice C Huang, Carla Perez, Lina Felipez, Gabriel Chamyan, Milton J Finegold, Erick Hernandez
No abstract text is available yet for this article.
August 23, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28833662/survival-after-lung-transplantation-in-recipients-with-alpha-1-antitrypsin-deficiency-compared-to-other-forms-of-chronic-obstructive-pulmonary-disease-a-national-cohort-study
#11
Brian C Gulack, Michael S Mulvihill, Asvin M Ganapathi, Paul J Speicher, Godefroy Chery, Laurie D Snyder, R Duane Davis, Matthew G Hartwig
INTRODUCTION: Alpha-1-Antitrypsin deficiency (AATD) is grouped with chronic obstructive pulmonary disease (COPD); however, this may not be appropriate. This study assessed whether AATD confers a different prognosis than COPD following lung transplantation. METHODS: We employed the UNOS database, grouping patients by diagnoses of AATD or COPD. Kaplan-Meier methods and Cox modeling were performed to determine the association of diagnosis and overall survival. RESULTS: Of 9569 patients, 1394 (14...
August 23, 2017: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/28819167/artificial-dnaj-protein-for-protein-production-and-conformational-diseases
#12
Akinori Hishiya, Keizo Koya
For secreted proteins, proper protein folding is essential not only for biological function but also for secretion itself. Proteins with folding problems are trapped in the endoplasmic reticulum (ER) and are eventually degraded in the cytoplasm. In this study, we exploited co-expression of an artificial fusion protein, based on the sequence of a DnaJ protein, which could interact as co-chaperones in the Hsp70-based protein-folding system, with target recombinant secreted proteins to enhance their production and secretion...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814853/improving-adherence-to-alpha-1-antitrypsin-deficiency-screening-guidelines-using-the-pulmonary-function-laboratory
#13
Landy V Luna Diaz, Isabella Iupe, Bruno Zavala, Kira C Balestrini, Andrea Guerrero, Gregory Holt, Rafael Calderon-Candelario, Mehdi Mirsaeidi, Michael Campos
No abstract text is available yet for this article.
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28783388/supraclavicular-aneurysm-as-a-presentation-of-alpha-1-antitrypsin-deficiency
#14
Pablo Ruiz-Sada, Mikel Eskalante-Boleas, Iker Garay-Hidalgo, Lara Palacios-García
No abstract text is available yet for this article.
August 2, 2017: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/28769553/clinical-utility-of-alpha-1-proteinase-inhibitor-in-the-management-of-adult-patients-with-severe-alpha-1-antitrypsin-deficiency-a-review-of-the-current-literature
#15
REVIEW
David G Parr, Beatriz Lara
Alpha-1 antitrypsin (AAT) functions primarily to inhibit neutrophil elastase, and its deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD). The putative protective serum concentration is generally considered to be above a threshold of 11 μM/L, and therapeutic augmentation of AAT above this value is believed to retard the progression of emphysema. Several AAT preparations, all derived from human donor plasma, have been commercialized since approval by the US Food and Drug Administration (FDA) in 1987...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28753703/-a-rare-cause-of-a-spontaneous-pneumothorax
#16
M Lepiorz, C Großer, H-S Hofmann, M Pfeifer
A young patient presented himself to the emergency department with sudden-onset, breathing-dependent right-sided thoracic pain. The auscultation revealed diminished breath sounds on the right. The radiograph showed a pneumothorax which was immediately dealt with chest tube drainage. The CT scan of the thorax showed minuscule subpleural bullae. Video-assisted thoracoscopic surgery (VATS) was performed due to persistent fistulae formation through the drain. The subpleural, bullous and emphysematous changes were histologically confirmed...
September 2017: Pneumologie
https://www.readbyqxmd.com/read/28752467/therapeutics-gene-therapy-for-alpha-1-antitrypsin-deficiency
#17
Alisha M Gruntman, Terence R Flotte
This review seeks to give an overview of alpha-1 antitrypsin deficiency, including the different disease phenotypes that it encompasses. We then describe the different therapeutic endeavors that have been undertaken to address these different phenotypes. Lastly we discuss future potential therapeutics, such as genome editing, and how they may play a role in treating alpha-1 antitrypsin deficiency.
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28752466/therapeutic-options-in-alpha-1-antitrypsin-deficiency-liver-transplantation
#18
Nedim Hadzic
Alpha-1 antitrypsin deficiency is the commonest genetic condition leading to liver transplantation in childhood. It remains unclear why only a minority of individuals carrying homozygous PiZ phenotype has liver disease, but also why of those only about a quarter develops end stage liver disease, requiring liver transplantation. This intervention has now become routine worldwide with 1-year patient survival rates well above 90%. As for all autosomal recessive conditions liver donation from anonymous cadaveric sources is preferred to living related parental donors, due to their presumed heterozygous state...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28752465/therapeutics-alpha-1-antitrypsin-augmentation-therapy
#19
Michael Campos, Jorge Lascano
Subjects with alpha-1 antitrypsin deficiency who develop pulmonary disease are managed following general treatment guidelines, including disease management interventions. In addition, administration of intravenous infusions of alpha-1 proteinase inhibitor (augmentation therapy) at regular schedules is a specific therapy for individuals with AATD with pulmonary involvement.This chapter summarizes the manufacturing differences of commercially available formulations and the available evidence of the effects of augmentation therapy...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28752464/electrophoresis-and-fret-based-measures-of-serpin-polymerization
#20
Sarah V Faull, Anwen E Brown, Imran Haq, James A Irving
Many serpinopathies, including alpha-1 antitrypsin (A1AT) deficiency, are associated with the formation of unbranched polymer chains of mutant serpins. In vivo, this deficiency is the result of mutations that cause kinetic or thermodynamic destabilization of the molecule. However, polymerization can also be induced in vitro from mutant or wild-type serpins under destabilizing conditions. The characteristics of the resulting polymers are dependent upon induction conditions. Due to their relationship to disease, serpin polymers, mainly those formed from A1AT, have been widely studied...
2017: Methods in Molecular Biology
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