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antitrypsin deficiency

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https://www.readbyqxmd.com/read/27916480/long-term-efficacy-and-safety-of-%C3%AE-1-proteinase-inhibitor-treatment-for-emphysema-caused-by-severe-%C3%AE-1-antitrypsin-deficiency-an-open-label-extension-trial-rapid-ole
#1
Noel G McElvaney, Jonathan Burdon, Mark Holmes, Allan Glanville, Peter A B Wark, Philip J Thompson, Paul Hernandez, Jan Chlumsky, Helmut Teschler, Joachim H Ficker, Niels Seersholm, Alan Altraja, Riitta Mäkitaro, Joanna Chorostowska-Wynimko, Marek Sanak, Paul I Stoicescu, Eeva Piitulainen, Oliver Vit, Marion Wencker, Michael A Tortorici, Michael Fries, Jonathan M Edelman, Kenneth R Chapman
BACKGROUND: Purified α1 proteinase inhibitor (A1PI) slowed emphysema progression in patients with severe α1 antitrypsin deficiency in a randomised controlled trial (RAPID-RCT), which was followed by an open-label extension trial (RAPID-OLE). The aim was to investigate the prolonged treatment effect of A1PI on the progression of emphysema as assessed by the loss of lung density in relation to RAPID-RCT. METHODS: Patients who had received either A1PI treatment (Zemaira or Respreeza; early-start group) or placebo (delayed-start group) in the RAPID-RCT trial were included in this 2-year open-label extension trial (RAPID-OLE)...
December 1, 2016: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/27916479/compelling-evidence-for-the-efficacy-of-%C3%AE-1-antitrypsin-augmentation-treatment-for-%C3%AE-1-antitrypsin-deficiency
#2
Ronald G Crystal
No abstract text is available yet for this article.
December 1, 2016: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/27898561/alpha-1-antitrypsin-deficiency-pathophysiologic-features-and-the-importance-of-screening
#3
Kelly McCosh
Alpha-1 antitrypsin deficiency is an inherited disorder that may lead to early development of emphysema and also can cause serious hepatic disease. Because the condition is underrecognized, diagnosis may be delayed. This article aims to increase awareness about alpha-1 antitrypsin deficiency and screening guidelines that can help primary care providers identify patients early for better outcomes.
December 2016: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/27879179/-two-sisters-with-lung-emphysema
#4
I Piscaer, F M E Franssen, N H T Ten Hacken, E F M Wouters, R Janssen
BACKGROUND: α1-antitrypsin is an antiprotease that is mainly produced in the liver; it plays a crucial role in the protection of lung parenchyma against the destructive effects of proteases. Mutations in the α1-antitrypsin gene can cause α1-antitrypsin deficiency. Individuals homozygous for the Z-genotype have drastically lowered serum α1-antitrypsine concentrations and often develop lung emphysema at an early age. CASE DESCRIPTION: A 38-year-old woman and her 43-year-old sister both developed lung emphysema at an early age; this could be attributed to severe α1-antitrypsin deficiency...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27877030/application-of-a-diagnostic-algorithm-for-the-rare-deficient-variant-mmalton-of-alpha-1-antitrypsin-deficiency-a-new-approach
#5
Irene Belmonte, Miriam Barrecheguren, Rosa M López-Martínez, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles, Francisco Rodríguez-Frías
BACKGROUND AND OBJECTIVES: Alpha-1-antitrypsin deficiency (AATD) is associated with a high risk for the development of early-onset emphysema and liver disease. A large majority of subjects with severe AATD carry the ZZ genotype, which can be easily detected. Another rare pathologic variant, the Mmalton allele, causes a deficiency similar to that of the Z variant, but it is not easily recognizable and its detection seems to be underestimated. Therefore, we have included a rapid allele-specific genotyping assay for the detection of the Mmalton variant in the diagnostic algorithm of AATD used in our laboratory...
2016: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/27857848/the-effect-of-%C3%AE-1-antitrypsin-deficiency-combined-with-increased-bacterial-loads-on-chronic-obstructive-pulmonary-disease-pharmacotherapy-a-prospective-parallel-controlled-pilot-study
#6
Marwa G Hennawy, Noha M Elhosseiny, Hussein Sultan, Wael Abdelfattah, Yousry Akl, Nirmeen A Sabry, Ahmed S Attia
Chronic obstructive pulmonary disease (COPD) is caused by α1-antitrypsin deficiency (AATD) genetic susceptibility and exacerbated by infection. The current pilot study aimed at studying the combined effect of AATD and bacterial loads on the efficacy of COPD conventional pharmacotherapy. Fifty-nine subjects (29 controls and 30 COPD patients) were tested for genetic AATD and respiratory function. The bacterial loads were determined to the patients' group who were then given a long acting beta-agonist and corticosteroid inhaler for 6 months...
November 2016: Journal of Advanced Research
https://www.readbyqxmd.com/read/27855621/alpha-1-antitrypsin-deficiency-current-perspective-from-genetics-to-diagnosis-and-therapeutic-approaches
#7
Simona Santangelo, Simone Scarlata, Luana M Poeta, Adam J Bialas, Gregorino Paone, Raffaele Antonelli Incalzi
Alpha-1 antitrypsin (A1AT) is a 52-kDa, acute phase glycoprotein encoded by the protease inhibitor (PI) locus, located on the long arm of chromosome 14 (14q31-32.3). Its structure is composed of a total of 7 exons, 4 coding (II, III, IV, and V) and 3 non-coding (Ia, Ib, and Ic). A1AT is produced primarily by hepatocytes and acts as a serine protease inhibitor with anti-protease and immunoregulatory activities. The main target of A1AT is neutrophil elastase (NE), an enzyme released during a neutrophil-mediated inflammatory process...
November 18, 2016: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/27855487/transfer-of-therapeutic-genes-into-fetal-rhesus-monkeys-using-recombinant-adeno-associated-type-i-viral-vectors
#8
Thomas J Conlon, Cathryn S Mah, Christina A R Pacak, Mary B Rucker Henninger, Kirsten E Erger, Marda L Jorgensen, Charles C Lee, Alice F Tarantal, Barry J Byrne
Neuromuscular disorders such as Pompe disease (glycogen storage disease, type II), result in early and potentially irreversible cellular damage with a very limited opportunity for intervention in the newborn period. Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle. Previous studies have shown that fetal delivery of recombinant adeno-associated virus (rAAV) encoding GAA to the peritoneal cavity of Gaa-/- mice resulted in high-level transduction of the diaphragm...
November 17, 2016: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/27827549/advances-in-identifying-urine-serum-biomarkers-in-alpha-1-antitrypsin-deficiency-for-more-personalized-future-treatment-strategies
#9
Ilaria Ferrarotti, Angelo Guido Corsico, Jan Stolk, Stefania Ottaviani, Marco Fumagalli, Sabina Janciauskiene, Paolo Iadarola
Alpha1-antitrypsin deficiency (AATD) is a genetic disorder characterized by reduced serum levels of alpha1-antitrypsin (AAT) and increased risk for developing both early-onset lung emphysema and chronic liver disease. Laboratory diagnosis of AATD is not just a matter of degree, although the AAT serum level is the most important determinant for risk of lung damage. While being a single-gene disease, the clinical phenotype of AATD is heterogeneous. The current standard of care for patients affected by AATD-associated pulmonary emphysema is replacement therapy with weekly i...
November 9, 2016: COPD
https://www.readbyqxmd.com/read/27824593/the-prevalence-of-diagnosed-%C3%AE-1-antitrypsin-deficiency-and-its-comorbidities-results-from-a-large-population-based-database
#10
Timm Greulich, Christoph Nell, David Hohmann, Marco Grebe, Sabina Janciauskiene, Andreas Rembert Koczulla, Claus Franz Vogelmeier
α1-Antitrypsin deficiency (AATD) is a genetically determined disorder that is associated with different clinical manifestations. We aimed to assess the prevalence of diagnosed AATD and its comorbidities using a large healthcare database.In this retrospective longitudinal observational study, we analysed data from 4 million insurants. Using International Classification of Diseases revision 10 (ICD-10) codes, we assessed the prevalence, comorbidities and healthcare utilisation of AATD patients (E88.0 repeatedly coded) relative to non-AATD patients with chronic obstructive pulmonary disease (COPD), emphysema or asthma...
October 20, 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27821710/exploration-of-%C3%AE-1-antitrypsin-treatment-protocol-for-islet-transplantation-dosing-plan-and-route-of-administration
#11
Boris M Baranovski, Eyal Ozeri, Galit Shahaf, David E Ochayon, Ronen Schuster, Nofar Bahar, Noa Kalay, Pablo Cal, Mark I Mizrahi, Omer Nisim, Pnina Strauss, Eran Schenker, Eli C Lewis
Life-long weekly infusions of human α1-antitrypsin (hAAT) are currently administered as augmentation therapy for patients with genetic AAT deficiency (AATD). Several recent clinical trials attempt to extend hAAT therapy to conditions outside AATD, including type 1 diabetes. Since the endpoint for AATD is primarily the reduction of risk for pulmonary emphysema, the present study explores hAAT dose protocols and routes of administration in attempt to optimize hAAT therapy for islet-related injury. Islet-grafted mice were treated with hAAT (Glassia™; i...
November 7, 2016: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/27819491/alpha1-antitrypsin-deficiency-increased-knowledge-and-diagnostic-testing-after-viewing-short-instructional-video
#12
Joanna L Nolte, Ali Ataya, Hunter Merrill, Mikala Childs, Mark Brantly
Many individuals with Alpha-1 Antitrypsin Deficiency (AATD) are unaware of their diagnosis. In the absence of an AATD diagnosis, irreversible damage continues, and incorrect care is provided. Research demonstrates low levels of knowledge about AATD among health care providers. To address this ongoing issue, a short educational video was developed for health care providers with the goal of increasing knowledge and testing for AATD. A five-question test on the video material was developed. Invitations to participate in the study were sent via email to providers at both public teaching hospitals and private practices across the country...
November 7, 2016: COPD
https://www.readbyqxmd.com/read/27812629/prevalence-of-alpha-1-antitrypsin-deficiency-and-allele-frequency-in-patients-with-copd-in-brazil
#13
Rodrigo Russo, Laura Russo Zillmer, Oliver Augusto Nascimento, Beatriz Manzano, Ivan Teruaki Ivanaga, Leandro Fritscher, Fernando Lundgren, Marc Miravitlles, Heicilainy Del Carlos Gondim, Gildo Santos, Marcela Amorim Alves, Maria Vera Oliveira, Altay Alves Lino de Souza, Maria Penha Uchoa Sales, José Roberto Jardim
Objective: To determine the prevalence of alpha 1-antitrypsin (AAT) deficiency (AATD), as well as allele frequency, in COPD patients in Brazil. Methods: This was a cross-sectional study involving 926 COPD patients 40 years of age or older, from five Brazilian states. All patients underwent determination of AAT levels in dried blood spot (DBS) samples by nephelometry. Those with DBS AAT levels ≤ 2.64 mg/dL underwent determination of serum AAT levels. Those with serum AAT levels of < 113 mg/dL underwent genotyping...
September 2016: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/27812626/diagnosing-alpha-1-antitrypsin-deficiency-does-it-prevent-or-improve-the-course-of-copd
#14
EDITORIAL
Irma Godoy
No abstract text is available yet for this article.
September 2016: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/27799660/toward-noninvasive-diagnosis-of-iga-nephropathy-a-pilot-urinary-metabolomic-and-proteomic-study
#15
Michaela Neprasova, Dita Maixnerova, Jan Novak, Colin Reily, Bruce A Julian, Jan Boron, Petr Novotny, Miloslav Suchanek, Vladimir Tesar, Petr Kacer
IgA nephropathy is diagnosed by renal biopsy, an invasive procedure with a risk of significant complications. Noninvasive approaches are needed for possible diagnostic purposes and especially for monitoring disease activity or responses to treatment. In this pilot project, we assessed the utility of urine samples as source of biomarkers of IgA nephropathy. We used spot urine specimens from 19 healthy controls, 11 patients with IgA nephropathy, and 8 renal-disease controls collected on day of renal biopsy. Urine samples were analyzed using untargeted metabolomic and targeted proteomic analyses by several experimental techniques: liquid chromatography coupled with mass spectrometry, immunomagnetic isolation of target proteins coupled with quantitation by mass spectrometry, and protein arrays...
2016: Disease Markers
https://www.readbyqxmd.com/read/27789479/design-and-characterization-of-an-apc-specific-serpin-for-the-treatment-of-hemophilia
#16
Stéphanie G I Polderdijk, Ty E Adams, Lacramioara Ivanciu, Rodney M Camire, Trevor P Baglin, James A Huntington
Hemophilia is a bleeding disorder caused by deficiency in factors VIII or IX, the two components of the intrinsic Xase complex. Treatment with replacement factor can lead to the development of inhibitory antibodies, requiring the use of bypassing agents such as factor VIIa and factor concentrates. An alternative approach to bypass the Xase complex is to inhibit endogenous anticoagulant activities. Activated protein C (APC) breaks down the complex that produces thrombin by proteolytically inactivating factor Va...
October 27, 2016: Blood
https://www.readbyqxmd.com/read/27787351/utilization-of-positive-and-negative-controls-to-examine-comorbid-associations-in-observational-database-studies
#17
Jigar R Desai, Craig L Hyde, Shaum Kabadi, Matthew St Louis, Vinicius Bonato, A Katrina Loomis, Aaron Galaznik, Marc L Berger
BACKGROUND: Opportunities to leverage observational data for precision medicine research are hampered by underlying sources of bias and paucity of methods to handle resulting uncertainty. We outline an approach to account for bias in identifying comorbid associations between 2 rare genetic disorders and type 2 diabetes (T2D) by applying a positive and negative control disease paradigm. RESEARCH DESIGN: Association between 10 common and 2 rare genetic disorders [Hereditary Fructose Intolerance (HFI) and α-1 antitrypsin deficiency] and T2D was compared with the association between T2D and 7 negative control diseases with no established relationship with T2D in 4 observational databases...
October 26, 2016: Medical Care
https://www.readbyqxmd.com/read/27785139/selected-metabolic-aspects-of-elastin-and-collagen-fiber-proteolysis-in-diseases-of-the-respiratory-system-the-significance-of-%C3%AE-1-antitrypsin-deficiency
#18
Agata Dżeljilji, Wojciech Rokicki, Krzysztof Karuś
The process of elastin and collagen fiber destruction was presented based on the example of the changes taking place in the course of chronic obstructive pulmonary disease and primary spontaneous pneumothorax. In 1963, when analyzing patients with α1 antitrypsin deficiency, Dr Laurell and Dr Eriksson hypothesized that elastolysis plays a role in the pathogenesis of emphysema, which marked the beginning of studies aimed at analyzing this process. The present work concerns new scientific reports regarding the hypothesis...
September 2016: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/27780343/gene-editing-and-genetic-lung-disease-basic-research-meets-therapeutic-application
#19
Deepthi Alapati, Edward E Morrisey
While our understanding of the genetics and pathology of congenital lung diseases such as surfactant protein deficiency, cystic fibrosis and alpha 1 antitrypsin deficiency is extensive, treatment options are lacking. Since the lung is a barrier organ in direct communication with the external environment, targeted delivery of gene corrective technologies to the respiratory system via intra-tracheal or intranasal routes is an attractive option for therapy. CRISPR/Cas9 gene editing technology is a promising approach to repair or inactivate disease causing mutations...
October 25, 2016: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/27771979/recent-advances-in-understanding-and-treating-copd-related-to-%C3%AE-1-antitrypsin-deficiency
#20
Maria Paula Henao, Timothy J Craig
Alpha-1-antitrypsin deficiency (AATD) is an orphan disease that predisposes individuals to COPD and liver disease. The following is a comprehensive review of AATD from epidemiology to treatment for physicians who treat COPD or asthma. Areas covered: In this comprehensive review of alpha-1-antitrypsin deficiency, we describe the historical perspective, genetics, epidemiology, clinical presentation and symptoms, screening and diagnosis, and treatments of the condition. Expert commentary: The two most important directions for advancing the understanding of AATD involve improving detection of the condition, especially in asymptomatic patients, and advancing knowledge of treatments directed specifically at AATD-related conditions...
November 4, 2016: Expert Review of Respiratory Medicine
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