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antitrypsin deficiency

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https://www.readbyqxmd.com/read/29776812/preservation-with-%C3%AE-1-antitrypsin-improves-primary-graft-function-of-murine-lung-transplants
#1
Jessica Götzfried, Natalia F Smirnova, Carmela Morrone, Brice Korkmaz, Ali Önder Yildirim, Oliver Eickelberg, Dieter E Jenne
BACKGROUND: Vascular damage and primary graft dysfunction increase with prolonged preservation times of transplanted donor lungs. Hence, storage and conservation of donated lungs in protein-free, dextran-containing electrolyte solutions, like Perfadex, is limited to about 6 hours. We hypothesized that transplanted lungs are protected against neutrophil-mediated proteolytic damage by adding α1 -anti-trypsin (AAT), a highly abundant human plasma proteinase inhibitor, to Perfadex. METHODS: A realistic clinically oriented murine model of lung transplantation was used to simulate the ischemia-reperfusion process...
March 30, 2018: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/29770228/acoustic-radiation-force-impulse-arfi-elastography-in-a-cohort-of-alpha-1-antitrypsin-deficient-individuals-and-healthy-volunteers
#2
Sandra Diaz, Behrouz Mostafavi, Hanan A Tanash, Eeva Piitulainen
Background: Acoustic radiation force impulse (ARFI) elastography has been used to assess liver stiffness non-invasively. However, its usefulness in alpha-1 antitripsin-deficient (AATD) individuals is unknown. Purpose: To assess if liver fibrosis is present in a cohort of AATD individuals using ARFI elastography. Material and Methods: Eighty-three participants aged 38-39 years, except for two who were aged 40 years, underwent ultrasound elastography of the liver with ARFI technique...
April 2018: Acta Radiologica Open
https://www.readbyqxmd.com/read/29769092/mineralization-of-alpha-1-antitrypsin-inclusion-bodies-in-mmalton-alpha-1-antitrypsin-deficiency
#3
Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio
BACKGROUND: Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease. The Z variant can be diagnosed on isoelectric focusing (IEF) while Mmalton and Siiyama may be missed or misdiagnosed with this technique. Therefore, molecular analysis is mandatory for their characterization. In particular, that holds true for the Mmalton variant as on IEF profile it resembles the wild M2 subtype. METHODS: This is a retrospective analysis involving review of medical records and of liver biopsy specimens from a series of Mmalton, Z and Siiyama Alpha-1-antitrypsin deficiency patients...
May 16, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29768056/presentation-and-prognosis-of-liver-disease-in-alpha-1-antitrypsin-deficiency
#4
Sarah Townsend, Philip Newsome, Alice M Turner
No abstract text is available yet for this article.
May 16, 2018: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29763589/%C3%AE-1-antitrypsin-polymerizes-in-alveolar-macrophages-of-smokers-with-and-without-%C3%AE-1-antitrypsin-deficiency
#5
Erica Bazzan, Mariaenrica Tinè, Davide Biondini, Riccardo Benetti, Simonetta Baraldo, Graziella Turato, Stefano Fagiuoli, Aurelio Sonzogni, Chiara Rigobello, Federico Rea, Fiorella Calabrese, Maria Pia Foschino-Barbaro, Elena Miranda, David A Lomas, Marina Saetta, Manuel G Cosio
BACKGROUND: The deficiency of α1 -antitrypsin (AAT) is secondary to misfolding and polymerization of the abnormal Z-AAT in liver cells and is associated with lung emphysema. Alveolar macrophages (AM) produce AAT, however it is not known if Z-AAT can polymerize in AM, further decreasing lung AAT and promoting lung inflammation. AIMS: To investigate if AAT polymerizes in human AM and to study the possible relation between polymerization and degree of lung inflammation...
May 12, 2018: Chest
https://www.readbyqxmd.com/read/29742402/all-atom-simulations-reveal-how-single-point-mutations-promote-serpin-misfolding
#6
Fang Wang, Simone Orioli, Alan Ianeselli, Giovanni Spagnolli, Silvio A Beccara, Anne Gershenson, Pietro Faccioli, Patrick L Wintrode
Protein misfolding is implicated in many diseases, including serpinopathies. For the canonical inhibitory serpin α1 -antitrypsin, mutations can result in protein deficiencies leading to lung disease, and misfolded mutants can accumulate in hepatocytes, leading to liver disease. Using all-atom simulations based on the recently developed bias functional algorithm, we elucidate how wild-type α1 -antitrypsin folds and how the disease-associated S (Glu264Val) and Z (Glu342Lys) mutations lead to misfolding. The deleterious Z mutation disrupts folding at an early stage, whereas the relatively benign S mutant shows late-stage minor misfolding...
May 8, 2018: Biophysical Journal
https://www.readbyqxmd.com/read/29735583/analysis-of-mcfd2-and-lman1-deficient-mice-demonstrates-distinct-functions-in-vivo
#7
Min Zhu, Chunlei Zheng, Wei Wei, Lesley Everett, David Ginsburg, Bin Zhang
The LMAN1-MCFD2 complex serves as a cargo receptor for efficient transport of factor V (FV) and FVIII from the endoplasmic reticulum (ER) to the Golgi. Genetic deficiency of LMAN1 or MCFD2 in humans results in the moderate bleeding disorder combined FV and FVIII deficiency, with a similar phenotype previously observed in LMAN1-deficient mice. We now report that MCFD2-deficient mice generated by gene targeting also demonstrate reduced plasma FV and FVIII, with levels lower than those in LMAN1-deficient mice, similar to previous observations in LMAN1- and MCDF2-deficient humans...
May 8, 2018: Blood Advances
https://www.readbyqxmd.com/read/29709680/liver-master-and-servant-of-serum-proteome
#8
REVIEW
Deniz Kuscuoglu, Sabina Janciauskiene, Karim Hamesch, Johannes Haybaeck, Christian Trautwein, Pavel Strnad
In the endoplasmic reticulum (ER), hepatocytes synthesize the majority of serum proteins and this production is adjusted by complex local and systemic regulatory mechanisms. Accordingly, serum levels of hepatocyte-made proteins constitute important biomarkers that reflect both systemic processes and the status of the liver. For example, C-reactive protein is an established marker of inflammatory reaction, whereas transferrin emerges as a liver stress marker and an attractive mortality predictor. The high protein flow through the ER poses a continuous challenge that is handled by a complex proteostatic network consisting of ER folding machinery, ER stress response, ER-associated degradation and autophagy...
April 27, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29707779/alpha-1-antitrypsin-deficiency-panniculitis-clinical-and-pathologic-characteristics-of-10-cases
#9
Emma F Johnson, Stanislav N Tolkachjov, Lawrence E Gibson
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) may be associated with liver and lung disease and rarely causes panniculitis. OBJECTIVE: We evaluated the clinicopathologic and laboratory findings of AATD panniculitis in 10 patients. METHODS: We conducted a retrospective review of all cases of AATD panniculitis at Mayo Clinic, Rochester, MN, from 1989 to 2016. RESULTS: Ten patients with AATD panniculitis were included...
April 29, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29698472/comparison-of-non-invasive-assessment-of-liver-fibrosis-in-patients-with-alpha1-antitrypsin-deficiency-using-magnetic-resonance-elastography-mre-acoustic-radiation-force-impulse-arfi-quantification-and-2d-shear-wave-elastography-2d-swe
#10
Rolf Reiter, Martin Wetzel, Karim Hamesch, Pavel Strnad, Patrick Asbach, Matthias Haas, Britta Siegmund, Christian Trautwein, Bernd Hamm, Dieter Klatt, Jürgen Braun, Ingolf Sack, Heiko Tzschätzsch
PURPOSE: Although it has been known for decades that patients with alpha1-antitrypsin deficiency (AATD) have an increased risk of cirrhosis and hepatocellular carcinoma, limited data exist on non-invasive imaging-based methods for assessing liver fibrosis such as magnetic resonance elastography (MRE) and acoustic radiation force impulse (ARFI) quantification, and no data exist on 2D-shear wave elastography (2D-SWE). Therefore, the purpose of this study is to evaluate and compare the applicability of different elastography methods for the assessment of AATD-related liver fibrosis...
2018: PloS One
https://www.readbyqxmd.com/read/29696962/alpha1-antitrypsin-deficiency-what-s-new-after-european-respiratory-society-statement
#11
Filippo Patrucco, Ludovica Venezia, Francesco Gavelli, Rinaldo Pellicano, Paolo Solidoro
Alpha-1 antitrypsin deficiency (AATD) is a clinically under-recognized inherited disorder affecting the lungs and the liver. The most common manifestations are pulmonary emphysema, bronchiectasis and liver disease. The recent publication of the European Respiratory Society statement on diagnosis and treatment of pulmonary diseases has replaced the 2003 American Thoracic Society and European Respiratory Society one. New outcome parameters have been introduced and validated by observational and randomized clinical trials, and new information about efficacy and safety of augmentation therapy have been published...
April 24, 2018: Panminerva Medica
https://www.readbyqxmd.com/read/29693942/intraoperative-aortic-dissection-during-lung-transplantation-in-a-patient-with-alpha-1-antitrypsin-deficiency
#12
Kenichiro Tatsumi, Yusuke Hamai, Toshiyuki Mizota, Kazuhiko Fukuda
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder affecting the lung, liver, and rarely skin. The most frequent features of AATD consist of chronic lung disorders related to protease-antiprotease imbalance in the respiratory system, to which lung transplantation is frequently indicated. We describe a case of aortic dissection in a 55-year-old male who underwent left single lung transplantation for respiratory failure due to AATD-related emphysema. Extracorporeal membrane oxygenation (ECMO) was indicated during the procedure, and an arterial cannula was placed into the descending aorta and a venous cannula was placed into the right femoral vein...
May 2017: Masui. the Japanese Journal of Anesthesiology
https://www.readbyqxmd.com/read/29625713/are-there-differences-between-the-available-treatments-for-emphysema-associated-with-alpha-1-antitrypsin-deficiency
#13
Cristina Esquinas, Marc Miravitlles
No abstract text is available yet for this article.
April 3, 2018: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/29618937/the-impact-of-alpha-1-antitrypsin-augmentation-therapy-on-neutrophil-driven-respiratory-disease-in-deficient-individuals
#14
REVIEW
Danielle M Dunlea, Laura T Fee, Thomas McEnery, Noel G McElvaney, Emer P Reeves
Alpha-1 antitrypsin (AAT) is the most abundant serine protease inhibitor circulating in the blood. AAT deficiency (AATD) is an autosomal codominant condition affecting an estimated 3.4 million individuals worldwide. The clinical disease associated with AATD can present in a number of ways including COPD, liver disease, panniculitis and antineutrophil cytoplasmic antibody vasculitis. AATD is the only proven genetic risk factor for the development of COPD, and deficient individuals who smoke are disposed to more aggressive disease...
2018: Journal of Inflammation Research
https://www.readbyqxmd.com/read/29616482/impact-of-a-health-management-program-on-healthcare-outcomes-among-patients-on-augmentation-therapy-for-alpha-1-antitrypsin-deficiency-an-insurance-claims-analysis
#15
Michael A Campos, Michael C Runken, Angela M Davis, Michael P Johnson, Glenda A Stone, Ami R Buikema
INTRODUCTION: Alpha 1-antitrypsin deficiency (AATD) is a genetic disorder which reduces serum alpha 1-antitrypsin (AAT or alpha1-proteinase inhibitor, A1PI) and increases the risk of chronic obstructive pulmonary disease (COPD). Management strategies include intravenous A1PI augmentation, and, in some cases, a health management program (Prolastin Direct® ; PD). OBJECTIVES: This study compared clinical and economic outcomes between patients with and without PD program participation...
April 2018: Advances in Therapy
https://www.readbyqxmd.com/read/29615836/long-term-evolution-of-lung-function-in-individuals-with-alpha-1-antitrypsin-deficiency-from-the-spanish-registry-redaat
#16
Cristina Esquinas, Sonia Serreri, Miriam Barrecheguren, Esther Rodriguez, Alexa Nuñez, Francisco Casas-Maldonado, Ignacio Blanco, Pietro Pirina, Beatriz Lara, Marc Miravitlles
Background: The clinical course of alpha-1 antitrypsin deficiency (AATD) is very heterogeneous. It is estimated that 60% of individuals with severe AATD (Pi*ZZ) develop emphysema. The main objective of this study was to describe the outcomes of long-term lung function in individuals with AATD-associated emphysema after at least 8 years of follow-up. Materials and methods: We performed a retrospective analysis of longitudinal follow-up data of AATD PiZZ patients from the Spanish registry (AATD Spanish Registry [REDAAT])...
2018: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29607607/alpha-1-antitrypsin-in-cell-and-organ-transplantation
#17
Mel Berger, Mingyao Liu, Marc E Uknis, Maria Koulmanda
Limited availability of donor organs and risk of ischemia-reperfusion injury (IRI) seriously restrict organ transplantation. Therapeutics that can prevent or reduce IRI could potentially increase the number of transplants by increasing use of borderline organs and decreasing discards. Alpha-1 antitrypsin (AAT) is an acute phase reactant and serine protease inhibitor which limits inflammatory tissue damage. Purified plasma-derived AAT has been well-tolerated in more than 30 years of use to prevent emphysema in AAT deficient individuals...
April 1, 2018: American Journal of Transplantation
https://www.readbyqxmd.com/read/29597895/in-vivo-genome-editing-partially-restores-alpha1-antitrypsin-in-a-murine-model-of-aat-deficiency
#18
Chun-Qing Song, Dan Wang, Tingting Jiang, Kevin O'Connor, Qiushi Tang, Lingling Cai, Xiangrui Li, Zhiping Weng, Hao Yin, Guangping Gao, Christian Mueller, Terence R Flotte, Wen Xue
CRISPR genome editing holds promise in the treatment of genetic diseases that currently lack effective long-term therapies. Patients with Alpha-1 Antitrypsin (AAT) deficiency develop progressive lung disease due to the loss of AAT's antiprotease function and liver disease due to a toxic gain of function of the common mutant allele. However, it remains unknown whether CRISPR-mediated AAT correction in the liver, where AAT is primarily expressed, can correct either or both defects. Here we show that AAV delivery of CRISPR can effectively correct Z-AAT mutation in the liver of a transgenic mouse model...
March 29, 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/29596184/chapter-6-3-studies-on-hepatic-metabolic-disorders-driven-by-espghan-members-the-case-of-alpha1-antitrypsin-deficiency-cystic-fibrosis-and-urea-cycle-defects
#19
Giulia Paolella, Giovanna Alfano, Pietro Vajro
No abstract text is available yet for this article.
April 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29592975/fulminant-hepatic-failure-in-the-setting-of-progressive-anca-associated-vasculitis-associated-with-a-rare-alpha-1-antitrypsin-phenotype-piee
#20
Ronald Reilkoff, Laurel Stephenson
Abnormalities in alpha-1 antitrypsin (AAT) proteins are risk factors for human disease. While the most common is AAT deficiency, a genetic disorder associated with chronic obstructive pulmonary disease, additional disorders associated with AAT abnormalities are increasingly recognised. We describe a middle-aged woman who presented with fulminant hepatic and multiorgan failure. Evaluation revealed the patient to have a rare AAT phenotype PiEE. Her clinical presentation was consistent with antineutrophilic cytoplasmic antibody-associated vasculitis, and her history suggested features of panniculitis...
March 28, 2018: BMJ Case Reports
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