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Alpha 1 antitrypsin

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https://www.readbyqxmd.com/read/28523968/gastrointestinal-system-involvement-in-systemic-lupus-erythematosus
#1
Z Li, D Xu, Z Wang, Y Wang, S Zhang, M Li, X Zeng
Systemic lupus erythematosus (SLE) is a multisystem disorder which can affect the gastrointestinal (GI) system. Although GI symptoms can manifest in 50% of patients with SLE, these have barely been reviewed due to difficulty in identifying different causes. This study aims to clarify clinical characteristics, diagnosis and treatment of the four major SLE-related GI system complications: protein-losing enteropathy (PLE), intestinal pseudo-obstruction (IPO), hepatic involvement and pancreatitis. It is a systematic review using MEDLINE and EMBASE databases and the major search terms were SLE, PLE, IPO, hepatitis and pancreatitis...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28512995/alpha-1-antitrypsin-deficiency-related-panniculitis-two-cases-with-diverse-clinical-courses
#2
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-non-classical-behaviour-during-polymerization
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28481733/tissue-proteome-analysis-of-different-grades-of-human-gliomas-provides-major-cues-for-glioma-pathogenesis
#6
Kishore Gollapalli, Saicharan Ghantasala, Apurva Atak, Srikanth Rapole, Aliasgar Moiyadi, Sridhar Epari, Sanjeeva Srivastava
Gliomas are heterogeneous and most commonly occurring brain tumors. Blood-brain barrier restricts the entry of brain tumor proteins into blood stream thus limiting the usage of serum or plasma for proteomic analysis. Our study aimed at understanding the molecular basis of aggressiveness of various grades of brain tumors using isobaric tagging for relative and absolute quantification (iTRAQ) based mass spectrometry. Tissue proteomic analysis of various grades of gliomas was performed using four-plex iTRAQ. We labeled five sets (each set consists of control, grade-II, III, and IV tumor samples) of individual glioma patients using iTRAQ reagents...
May 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28449136/-alpha-2-macroglobulin-serum-level-in-patients-with-alpha-1-antitrypsin-deficiency
#7
V Kotke, S Wiedmann, C Nell, C Vogelmeier, R Bals, T Greulich, A Klemmer
Background and objectives Alpha-2 Macroglobulin (A2M) is a plasma protein with proteolytic effects on many proteases. In patients with an inborn alpha-1 antitrypsin deficiency (AATD) the homeostasis between proteases and antiproteases is disturbed. The aim of this study was to compare the levels of AAT and A2 M in patients and controls. We hypothesized that in patients with AATD A2 M levels are elevated. Methods Patients with AATD (polymorphism Pi*ZZ, Pi*SZ, Pi*MZ and rare gene variants) as well as healthy volunteers (Pi*MM) were tested for A2 M and AAT levels...
April 27, 2017: Pneumologie
https://www.readbyqxmd.com/read/28448535/alpha-1-antitrypsin-supplementation-improves-alveolar-macrophages-efferocytosis-and-phagocytosis-following-cigarette-smoke-exposure
#8
Karina A Serban, Daniela N Petrusca, Andrew Mikosz, Christophe Poirier, Angelia D Lockett, Lauren Saint, Matthew J Justice, Homer L Twigg, Michael A Campos, Irina Petrache
Cigarette smoking (CS), the main risk factor for COPD (chronic obstructive pulmonary disease) in developed countries, decreases alveolar macrophages (AM) clearance of both apoptotic cells and bacterial pathogens. This global deficit of AM engulfment may explain why active smokers have worse outcomes of COPD exacerbations, episodes characterized by airway infection and inflammation that carry high morbidity and healthcare cost. When administered as intravenous supplementation, the acute phase-reactant alpha-1 antitrypsin (A1AT) reduces the severity of COPD exacerbations in A1AT deficient (AATD) individuals and of bacterial pneumonia in murine models, but the effect of A1AT on AM scavenging functions has not been reported...
2017: PloS One
https://www.readbyqxmd.com/read/28436665/intra-and-interskeletal-proteome-variations-in-fresh-and-buried-bones
#9
Noemi Procopio, Andrew T Chamberlain, Michael Buckley
Proteomic methods are acquiring greater importance in archaeology and palaeontology due to the longevity of proteins in skeletal remains. There are also developing interests in forensic applications, offering the potential to shed light on post-mortem intervals and age at death estimation. However, our understanding of intra- and interskeletal proteome variations is currently severely limited. Here, we evaluated the proteomes obtained from five distinct subsamples of different skeletal elements from buried pig carcasses to ascertain the extent of variation within and between individuals...
May 5, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28432659/current-role-of-blood-and-urine-biomarkers-in-the-clinical-care-of-adults-with-congenital-heart-disease
#10
REVIEW
Saurabh Rajpal, Laith Alshawabkeh, Alexander R Opotowsky
PURPOSE OF REVIEW: There is an increasing number of adult patients with congenital heart disease (CHD). While several biomarkers have been validated and integrated into general cardiology clinical practice, these tests are often applied to adults with CHD in the absence of disease-specific validation. Although these patients are often grouped into a single population, there is heterogeneous pathophysiology, variable disease chronicity, extensive multisystem involvement, and a low event rate relative to acquired heart disease...
June 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28425234/alpha-1-antitrypsin-levels-and-polymorphisms-in-interstitial-lung-diseases
#11
Nalan Demir, Özlem Erçen Diken, Halil Gürhan Karabulut, Demet Karnak, Oya Kayacan
BACKGROUND/AIM: Alpha-1 antitrypsin deficiency may be a potential predisposing factor for interstitial lung fibrosis. We investigated alpha-1 antitrypsin levels and its polymorphisms in patients with interstitial lung disease. MATERIALS AND METHODS: A total of 103 interstitial lung disease patients were compared. RESULTS: The mean alpha-1 antitrypsin level in idiopathic interstitial pneumonia patients was 1.67 ± 0.33 g/L, and it was 1.54 ± 0...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28419579/erdj3-has-an-essential-role-for-z-variant-alpha-1-antitrypsin-degradation
#12
Nazli Khodayari, George Marek, Yuanqing Lu, Karina Krotova, Rejean Liqun Wang, Mark Brantly
Alpha-1-antitrypsin deficiency (AATD) is an inherited disease characterized by emphysema and liver disease. AATD is most often caused by a single amino acid substitution at amino acid 342 in the mature protein, resulting in the Z mutation of the alpha-1-antitrypsin gene (ZAAT). This substitution is associated with misfolding and accumulation of ZAAT in the endoplasmic reticulum (ER) of hepatocytes and monocytes, causing a toxic gain of function. Retained ZAAT is eliminated by ER-associated degradation and autophagy...
April 17, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28416015/costs-and-health-related-quality-of-life-in-alpha-1-antitrypsin-deficient-copd-patients
#13
Florian M Karl, Rolf Holle, Robert Bals, Timm Greulich, Rudolf A Jörres, Annika Karch, Armin Koch, Stefan Karrasch, Reiner Leidl, Holger Schulz, Claus Vogelmeier, Margarethe E Wacker
BACKGROUND: Alpha-1-Antitrypsin Deficiency (AATD) is an economically unexplored genetic disease. METHODS: Direct and indirect costs (based on self-reported information on healthcare utilization) and health-related quality of life (HRQL, as assessed by SGRQ, CAT, and EQ-5D-3 L) were compared between 131 AATD patients (106 with, 25 without augmentation therapy (AT)) and 2,049 COPD patients without AATD participating in the COSYCONET COPD cohort. The medication costs of AT were excluded from all analyses to reveal differences associated with morbidity profiles...
April 17, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28413783/two-single-nucleotide-polymorphisms-sites-in-%C3%AE-1-at-gene-and-their-association-with-somatic-cell-score-in-chinese-holstein-cows
#14
Xiao-Fei Guo, Wen-Ping Hu, Xian-Zheng Lang, Qiu-Ling Li, Xiang-Yu Wang, Ran Di, Qiu-Yue Liu, Xiao-Lin Liu, Yong-Fu An, Ming-Xing Chu
BACKGROUND: Alpha 1-antitrypsin (α1-AT) may affect the susceptibility of mastitis in dairy cattle for its possible role in the protection of lactoferrin from proteolytic degradation in the mammary. Milk somatic cell score (SCS) is a logarithmic transformation of the milk somatic cell count widely used as an index to evaluate mastitis. To study the relationships of α1-AT gene and SCS in Chinese Holstein cows, methods of PCR-SSCP, DNA sequencing, PCR-RFLP, and CRS-PCR technologies were used to detect single nucleotide polymorphisms sites in α1-AT gene...
December 2017: Journal of Biological Research
https://www.readbyqxmd.com/read/28409899/genetic-variation-of-the-alpha-1-antitrypsin-gene-is-associated-with-increased-autoantibody-production-in-rheumatoid-arthritis
#15
Cormac McCarthy, Carl Orr, Laura Fee, Danielle M Dunlea, David J L Hunt, Eimear Dunne, Tomás P Carroll, Paul O'Connell, Geraldine McCarthy, Dermot Kenny, Ursula Fearon, Douglas J Veale, Emer P Reeves, Noel G McElvaney
OBJECTIVE: To examine the prevalence of alpha-1 antitrypsin (AAT) deficiency (AATD) in rheumatoid arthritis (RA), and to determine if AATD is associated with higher levels of rheumatoid factor (RF), antinuclear antibodies (ANA) and anti-citrullinated peptide auto-antibodies (ACPA). METHODS: RF, ANA and ACPA were measured by standard immunoturbidimetry, immunofluorescence and ELISA, respectively. Characterisation of AAT phenotypes was performed by isoelectric focussing and immunofixation...
April 13, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28408179/5-year-expression-and-neutrophil-defect-repair-after-gene-therapy-in-alpha-1-antitrypsin-deficiency
#16
Christian Mueller, Gwladys Gernoux, Alisha M Gruntman, Florie Borel, Emer P Reeves, Roberto Calcedo, Farshid N Rouhani, Anthony Yachnis, Margaret Humphries, Martha Campbell-Thompson, Louis Messina, Jeffrey D Chulay, Bruce Trapnell, James M Wilson, Noel G McElvaney, Terence R Flotte
Alpha-1 antitrypsin deficiency is a monogenic disorder resulting in emphysema due principally to the unopposed effects of neutrophil elastase. We previously reported achieving plasma wild-type alpha-1 antitrypsin concentrations at 2.5%-3.8% of the purported therapeutic level at 1 year after a single intramuscular administration of recombinant adeno-associated virus serotype 1 alpha-1 antitrypsin vector in alpha-1 antitrypsin deficient patients. We analyzed blood and muscle for alpha-1 antitrypsin expression and immune cell response...
April 10, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28406696/proteomics-approach-for-identification-of-iga-nephropathy-related-biomarkers-in-urine
#17
P Prikryl, L Vojtova, D Maixnerova, M Vokurka, M Neprasova, T Zima, V Tesar
Proteinuria is often used as a surrogate marker in monitoring and predicting outcome in patients with chronic kidney diseases, but it is non-specific. IgAN belongs to the most common primary glomerulonephritis worldwide with serious prognosis. The main aim of this work was to assess differences in urine proteins in patients with IgA nephropathy and to identify abnormal proteins as potential biomarkers of IgA nephropathy or the renal disease. In our pilot project, we selected 20 patients and compared them with 20 healthy volunteers...
April 12, 2017: Physiological Research
https://www.readbyqxmd.com/read/28396264/causal-pathways-from-enteropathogens-to-environmental-enteropathy-findings-from-the-mal-ed-birth-cohort-study
#18
Margaret N Kosek
BACKGROUND: Environmental enteropathy (EE), the adverse impact of frequent and numerous enteric infections on the gut resulting in a state of persistent immune activation and altered permeability, has been proposed as a key determinant of growth failure in children in low- and middle-income populations. A theory-driven systems model to critically evaluate pathways through which enteropathogens, gut permeability, and intestinal and systemic inflammation affect child growth was conducted within the framework of the Etiology, Risk Factors and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development (MAL-ED) birth cohort study that included children from eight countries...
April 2017: EBioMedicine
https://www.readbyqxmd.com/read/28380308/alpha-1-antitrypsin-pi-mz-genotype-is-associated-with-copd-in-two-racial-groups
#19
Marilyn G Foreman, Carla Wilson, Dawn L DeMeo, Craig P Hersh, Terri H Beaty, Michael H Cho, John Ziniti, Douglas Curran-Everett, Gerard Criner, John E Hokanson, Mark Brantly, Farshid N Rouhani, Robert A Sandhaus, James D Crapo, Edwin K Silverman
RATIONALE: Alpha-1 antitrypsin deficiency, primarily caused by homozygosity for the Z allele of the SERPINA1 gene, is a well-established genetic cause of chronic obstructive pulmonary disease (COPD). Whether the heterozygous PI MZ genotype for alpha-1 antitrypsin confers increased risk for COPD has been debated. OBJECTIVES: We analyzed 8271 subjects in the COPDGene Study, hypothesizing that PI MZ would independently associate with COPD and COPD-related phenotypes...
April 5, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28375782/the-potential-hazardous-effect-of-exposure-to-iron-dust-in-egyptian-smoking-and-non-smoking-welders
#20
Naglaa Abd El Khalik Gobba, Abdel-Maksoud A Hussien, Dalia E El Sharawy, Mohammed Abdalla Hussein
Exposure to iron dust and welding fumes is widespread and may increase the risk of lung inflammation. The aim of this study was to identify associations between exposure to iron/ welding fumes and the levels of inflammatory parameters and allergic mediators among 120 Egyptian males. Forty non-smoking and 40 smoking Egyptian welders as well as 40 healthy volunteers who were never exposed to welding fumes and non-smoking were enrolled in the study. Peak expiratory flow rates (PEFR) that were assessed at the shift of work in the working days revealed an impairment in lung function with the smoking workers showing the worse results, followed by the non-smoking ones as compared to the healthy volunteers...
April 4, 2017: Archives of Environmental & Occupational Health
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