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antitrypsin deficiency

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https://www.readbyqxmd.com/read/28732839/exacerbations-and-duration-of-smoking-abstinence-are-associated-with-the-annual-loss-of-fev1-in-individuals-with-pizz-alpha-1-antitrypsin-deficiency
#1
Sebastian Fähndrich, Nikolas Bernhard, Philipp M Lepper, Claus Vogelmeier, Martina Seibert, Stefan Wagenpfeil, Robert Bals
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that is associated with a higher risk of chronic obstructive pulmonary disease (COPD) and emphysema. The annual declines in lung function (FEV1) and transfer factor of the lung for carbon monoxide (TLCO) predict all-cause mortality. MATERIAL AND METHODS: We investigated the longitudinal follow-up data over 11 years (mean follow-up period of 4.89 years) from the German AATD registry and analyzed the relationship between annual loss of FEV1 and TLCO and sex, age, body mass index (BMI), nicotine consumption, occupational dust exposure, St...
August 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28721587/genetically-engineered-cell-lines-for-%C3%AE-1-antitrypsin-expression
#2
Qianqian Ji, Caiping Guo, Chen Xie, Yingdan Wu, Pei Zhang, Hui Li, Yongjun Lu
OBJECTIVES: To establish genetically modified cell lines that can produce functional α1-antitrypsin (AAT), by CRISPR/Cas9-assisted homologous recombination. RESULTS: α1-Antitrypsin deficiency (AATD) is a monogenic heritable disease that often results in lungs and liver damage. Current augmentation therapy is expensive and in short of supply. To develop a safer and more effective therapeutic strategy for AATD, we integrated the AAT gene (SERPINA1, NG_008290.1) into the AAVS1 locus of human cell line HEK293T and assessed the safety and efficacy of CRISPR/Cas9 on producing potential therapeutic cell lines...
July 18, 2017: Biotechnology Letters
https://www.readbyqxmd.com/read/28715721/pushing-the-boundaries-in-liver-graft-utilisation-in-transplantation-case-report-of-a-donor-with-previous-bile-duct-injury-repair
#3
Asma Sultana, James J Powell, Gabriel C Oniscu
INTRODUCTION: Liver transplantation is a recognised treatment for extensive bile duct injuries with secondary biliary cirrhosis or recurring sepsis. However, there have been no reports of successful liver transplantation from a donor who sustained a previous bile duct injury. PRESENTATION OF CASE: Here we discuss the case of a liver transplant from a 51-year-old brain dead donor who had suffered a Strasberg E1 bile duct injury and had undergone a Roux-en-Y hepaticojejunostomy 24 years prior to donation...
June 29, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28705390/alpha-1-antitrypsin-deficiency-associated-with-null-alleles
#4
Juan Marco Figueira Gonçalves, Francisco Martínez Bugallo, Ignacio García-Talavera, Jesús Rodríguez González
No abstract text is available yet for this article.
July 10, 2017: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/28668972/a-new-serpina-1-missense-mutation-associated-with-alpha-1-antitrypsin-deficiency-and-bronchiectasis
#5
G E Carpagnano, R Santacroce, G A Palmiotti, A Leccese, E Giuffreda, M Margaglione, M P Foschino Barbaro, S Aliberti, D Lacedonia
Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum and predisposes to emphysema. Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states. We report a case of a 52-year-old woman with bronchiectasis without other potential causes other than an electrophoresis that showed a decrease of alpha-1 globin band and AAT levels below the normal value (78 mg/dl; v...
July 1, 2017: Lung
https://www.readbyqxmd.com/read/28662542/quantitative-disease-progression-model-of-alpha-1-proteinase-inhibitor-therapy-on-ct-lung-density-in-patients-with-alpha-1-antitrypsin-deficiency
#6
M A Tortorici, J A Rogers, O Vit, M Bexon, R A Sandhaus, J Burdon, J Chorostowska-Wynimko, P Thompson, J Stocks, N G McElvaney, K R Chapman, J M Edelman
AIMS: Early-onset emphysema attributed to alpha-1 antitrypsin deficiency (AATD) is frequently overlooked and undertreated. RAPID-RCT/RAPID-OLE, the largest clinical trials of purified human alpha-1 proteinase inhibitor (A1 -PI; 60 mg/kg/wk) therapy completed to date, demonstrated for the first time that A1 -PI is clinically effective in slowing lung tissue loss in AATD. A post-hoc pharmacometric analysis was undertaken to further explore dose, exposure and response. METHODS: A disease progression model was constructed, utilizing observed A1 -PI exposure and lung density decline rates (measured by computed tomography) from RAPID-RCT/RAPID-OLE, to predict effects of population variability and higher doses on A1 -PI exposure and clinical response...
June 29, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28661868/challenge-of-%C3%AE-1-antitrypsin-deficiency-diagnosis-in-primary-care
#7
Qian Ye, Anthony D D'Urzo
No abstract text is available yet for this article.
November 2016: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28651580/sex-specific-lung-functional-changes-in-adult-mice-exposed-only-to-second-hand-smoke-in-utero
#8
Alexandra Noël, Rui Xiao, Zakia Perveen, Hasan Zaman, Viviana Le Donne, Arthur Penn
BACKGROUND: An increasing number of epidemiological and experimental studies have associated exposure to second-hand smoke (SHS) during pregnancy with adverse outcomes in newborns. As we have previously shown in mice, in utero exposure to SHS at critical stages of fetal development, results in altered lung responses and increased disease susceptibility upon re-exposure to irritants (SHS or ovalbumin) in adulthood. In this study, we asked whether the in utero SHS exposure alone is sufficient to alter lung structure and function in adult mice...
June 27, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28648594/alpha-1-antitrypsin-deficiency-associated-to-the-variant-pi-mpalermo-analysis-of-8-cases
#9
Juan Marco Figueira Gonçalves, Francisco Martínez Bugallo, Orlando Mesa Medina
No abstract text is available yet for this article.
June 22, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28647590/differences-in-the-coronal-proteome-acquired-by-particles-depositing-in-the-lungs-of-asthmatic-versus-healthy-humans
#10
Abhinav Kumar, Elif Melis Bicer, Paul Pfeffer, Marco P Monopoli, Kenneth A Dawson, Jonny Eriksson, Katarina Edwards, Steven Lynham, Matthew Arno, Annelie F Behndig, Anders Blomberg, Graham Somers, Dave Hassall, Lea Ann Dailey, Ben Forbes, Ian Mudway
Most inhaled nanomedicines in development are for the treatment of lung disease, yet little is known about their interaction with the respiratory tract lining fluids (RTLFs). Here we combined the use of nano-silica, as a protein concentrator, with label-free snapshot proteomics (LC-MS/MS; key findings confirmed by ELISA) to generate a quantitative profile of the RTLF proteome and provided insight into the evolved corona; information that may be used in future to improve drug targeting to the lungs by inhaled medicines...
June 22, 2017: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/28645458/pulmonary-3-he-magnetic-resonance-imaging-biomarkers-of-regional-airspace-enlargement-in-alpha-1-antitrypsin-deficiency
#11
Eric Lessard, Heather M Young, Anurag Bhalla, Damien Pike, Khadija Sheikh, David G McCormack, Alexei Ouriadov, Grace Parraga
RATIONALE AND OBJECTIVES: Thoracic x-ray computed tomography (CT) and hyperpolarized (3)He magnetic resonance imaging (MRI) provide quantitative measurements of airspace enlargement in patients with emphysema. For patients with panlobular emphysema due to alpha-1 antitrypsin deficiency (AATD), sensitive biomarkers of disease progression and response to therapy have been difficult to develop and exploit, especially those biomarkers that correlate with outcomes like quality of life. Here, our objective was to generate and compare CT and diffusion-weighted inhaled-gas MRI measurements of emphysema including apparent diffusion coefficient (ADC) and MRI-derived mean linear intercept (Lm) in patients with AATD, chronic obstructive pulmonary disease (COPD) ex-smokers, and elderly never-smokers...
June 20, 2017: Academic Radiology
https://www.readbyqxmd.com/read/28617828/erad-defects-and-the-hfe-h63d-variant-are-associated-with-increased-risk-of-liver-damages-in-alpha-1-antitrypsin-deficiency
#12
Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh
BACKGROUND: The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in Z-1AT patients, it seems that liver disease progression is linked to still unknown genetic factors. METHODS: We used an innovative approach combining yeast genetic screens with next generation exome sequencing to identify and functionally characterize the genes involved in 1ATD associated liver disease...
2017: PloS One
https://www.readbyqxmd.com/read/28564723/emerging-concepts-and-human-trials-in-alpha-1-antitrypsin-deficiency-liver-disease
#13
Jeffrey H Teckman
No abstract text is available yet for this article.
May 2017: Seminars in Liver Disease
https://www.readbyqxmd.com/read/28559523/the-first-report-of-two-cases-of-fatal-liver-injury-due-to-anti-tuberculosis-drugs-in-the-presence-of-alpha-1-antitrypsin-deficiency
#14
Shahram Habibzadeh, Jafar Mohammad Shahi, Hassan Ghobadi, Nasrollah Maleki
Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation. Here, we report for the first time, two patients of fatal liver injury due to anti-TB drugs in the presence of alpha-1 antitrypsin deficiency. Based on the triad of rapid loss in hepatocyte function, the onset of hepatic encephalopathy, and absence of a prior history of liver disease, the diagnosis of acute liver failure was established...
April 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28558837/long-term-clinical-outcomes-following-treatment-with-alpha-1-proteinase-inhibitor-for-copd-associated-with-alpha-1-antitrypsin-deficiency-a-look-at-the-evidence
#15
REVIEW
Franck F Rahaghi, Marc Miravitlles
Alpha-1 antitrypsin deficiency (AATD) is a common hereditary disorder caused by mutations in the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT; also known as alpha 1-proteinase inhibitor, A1-PI). An important function of A1-PI in the lung is to inhibit neutrophil elastase, one of various proteolytic enzymes released by activated neutrophils during inflammation. Absence or deficiency of A1-PI leads to an imbalance between elastase and anti-elastase activity, which results in progressive, irreversible destruction of lung tissue, and ultimately the development of chronic obstructive pulmonary disease with early-onset emphysema...
May 30, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28553095/deterioration-of-quality-of-life-is-associated-with-the-exacerbation-frequency-in-individuals-with-alpha-1-antitrypsin-deficiency-analysis-from-the-german-registry
#16
Nikolas Bernhard, Philipp M Lepper, Claus Vogelmeier, Martina Seibert, Stefan Wagenpfeil, Robert Bals, Sebastian Fähndrich
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary disease that is associated with a higher risk to develop chronic obstructive pulmonary disease and liver cirrhosis. Previous cross-sectional studies on AATD individuals have shown a relationship between worse St George's Respiratory Questionnaire (SGRQ) scores and elevated exacerbation rate or high cigarette consumption. There is a lack of longitudinal data on the relationship between the exacerbation rate and worsening of SGRQ during disease...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28512995/alpha-1-antitrypsin-deficiency-related-panniculitis-two-cases-with-diverse-clinical-courses
#17
E R Storan, S M O' Gorman, P Hawkins, L Aalto, A Murphy, T Markham
Alpha-1-antitrypsin deficiency (AATD)-related panniculitis is an extremely rare and underdiagnosed entity, and there is a paucity of data on its treatment. We report two cases of AATD-related panniculitis. The first was a 24-year-old woman with known AATD who presented with painful leg ulcers refractory to treatment with corticosteroids and colchicine. She had a good response to α1-antitrypsin infusions but required dose adjustment due to flares in disease activity. The second case was a 38-year-old woman who presented with painful nodules on the legs refractory to corticosteroid therapy...
May 17, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28504839/the-pathological-trento-variant-of-alpha-1-antitrypsin-e75v-shows-nonclassical-behaviour-during-polymerization
#18
Elena Miranda, Ilaria Ferrarotti, Romina Berardelli, Mattia Laffranchi, Marta Cerea, Fabrizio Gangemi, Imran Haq, Stefania Ottaviani, David A Lomas, James A Irving, Annamaria Fra
Severe alpha-1-antitrypsin deficiency (AATD) is most frequently associated with the alpha-1-antitrypsin (AAT) Z variant (E342K). ZZ homozygotes exhibit accumulation of AAT as polymers in the endoplasmic reticulum of hepatocytes. This protein deposition can lead to liver disease, with the resulting low circulating levels of AAT predisposing to early-onset emphysema due to dysregulation of elastinolytic activity in the lungs. An increasing number of rare AAT alleles have been identified in patients with severe AATD, typically in combination with the Z allele...
May 15, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28496314/treatment-of-lung-disease-in-alpha-1-antitrypsin-deficiency-a-systematic-review
#19
REVIEW
Ross G Edgar, Mitesh Patel, Susan Bayliss, Diana Crossley, Elizabeth Sapey, Alice M Turner
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition predisposing individuals to chronic obstructive pulmonary disease (COPD). The treatment is generally extrapolated from COPD unrelated to AATD; however, most COPD trials exclude AATD patients; thus, this study sought to systematically review AATD-specific literature to assist evidence-based patient management. METHODS: Standard review methodology was used with meta-analysis and narrative synthesis (PROSPERO-CRD42015019354)...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28486562/exogenous-alpha-1-antitrypsin-down-regulates-serpina1-expression
#20
Ahmad Karadagi, Helene Johansson, Helen Zemack, Sandeep Salipalli, Lisa-Mari Mörk, Kristina Kannisto, Carl Jorns, Roberto Gramignoli, Stephen Strom, Knut Stokkeland, Bo-Göran Ericzon, Danny Jonigk, Sabina Janciauskiene, Greg Nowak, Ewa C S Ellis
The main goal of the therapy with purified human plasma alpha1-antitrypsin (A1AT) is to increase A1AT levels and to prevent lungs from elastolytic activity in patients with PiZZ (Glu342Lys) A1AT deficiency-related emphysema. Potential hepatic gains of this therapy are unknown. Herein, we investigated the effect of A1AT therapy on SERPINA1 (gene encoding A1AT) expression. The expression of SERPINA1 was determined in A1AT or A1AT plus Oncostatin M (OSM) treated primary human hepatocytes isolated from liver tissues from A1AT deficient patients and control liver tissues...
2017: PloS One
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