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https://www.readbyqxmd.com/read/29232161/characterization-of-novel-missense-variants-of-serpina1-gene-causing-alpha-1-antitrypsin-deficiency
#1
Nerea Matamala, Beatriz Lara, Gema Gomez-Mariano, Selene Martínez, Diana Retana, Taiomara Fernandez, Ramona Angeles Silvestre, Irene Belmonte, Francisco Rodriguez-Frias, Marçal Vilar, Raquel Sáez, Igor Iturbe, Silvia Castillo, María Molina-Molina, Anna Texido, Gema Tirado-Conde, Jose Luis Lopez-Campos, Manuel Posada, Ignacio Blanco, Sabina Janciauskiene, Beatriz Martinez-Delgado
SERPINA1 gene is highly polymorphic, with more than one hundred variants described in databases. The SERPINA1 encodes alpha-1 antitrypsin (AAT) protein, and the severe deficiency of AAT is a major contributor to pulmonary emphysema and liver diseases. We report seven new variants in Spanish patients with AAT deficiency. All variants involved amino acid substitutions in different exons: PiSDonosti (S+Ser14Phe), PiTijarafe (Ile50Asn), PiSevilla (Ala58Asp), PiCadiz (Glu151Lys), PiTarragona (Phe227Cys), PiPuerto Real (Thr249Ala) and PiValencia (Lys328Glu)...
December 12, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/29227673/crystal-structure-of-cleaved-serp-1-a-myxomavirus-derived-immune-modulating-serpin-structural-design-of-serpin-reactive-center-loop-rcl-peptides-with-improved-therapeutic-function
#2
Brian P Mahon, Sriram Ambadapadi, Jordan R Yaron, Carrie L Lomelino, Melissa A Pinard, Shahar Keinan, Igor Kurnikov, Colin Macaulay, Liqiang Zhang, Westley Reeves, Grant McFadden, Scott Tibbetts, Robert McKenna, Alexandra Lucas
The Myxomavirus-derived protein Serp-1 has potent anti-inflammatory activity in models of vasculitis, lupus, viral sepsis, and transplant. Serp-1 has also been tested successfully in a Phase IIa clinical trial in unstable angina, representing a 'first-in-class' therapeutic. Recently, peptides derived from the reactive center loop (RCL) have been developed as stand-alone therapeutics for reducing vasculitis and improving survival in MHV68-infected mice. However, both Serp-1 and the RCL peptides lose activity in MHV68-infected mice after antibiotic suppression of intestinal microbiota...
December 11, 2017: Biochemistry
https://www.readbyqxmd.com/read/29225784/diagnosing-alpha-1-antitrypsin-deficiency-the-first-step-in-precision-medicine
#3
REVIEW
Craig P Hersh
Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease. Other manifestations include bronchiectasis, necrotizing panniculitis and granulomatosis with polyangiitis. Despite the frequency and potential severity, AAT deficiency remains under-recognized, and there is often a delay in diagnosis. This review will focus on three recent updates that should serve to encourage testing and diagnosis of AAT deficiency: first, the publication of a randomized clinical trial demonstrating the efficacy of intravenous augmentation therapy in slowing the progression of emphysema in AAT deficiency; second, the mounting evidence showing an increased risk of lung disease in heterozygous PI MZ genotype carriers; last, the recent publication of a clinical practice guideline, outlining diagnosis and management...
2017: F1000Research
https://www.readbyqxmd.com/read/29224322/-%C3%AE-1-antitrypsin-pittsburg-mutations-report-of-two-cases-in-the-same-family
#4
L J Cao, X Bai, Z Q Yu, W Zhang, J Su, Z Y Wang, C G Ruan
Objective: To analyze the clinical and laboratory abnormalities of two patients with α1-antitrypsin (α1-AT) Pittsburgh in a family and review the literatures. Methods: Both plasma clotting time and factor activities were performed using clotting or substrate methods. Platelet aggregation was evaluated using an optical aggregometer. The serum protein electrophoresis was performed on Sebia HYDRASYS by using Agarose gel. The exons of α1-AT were amplified by using polymerase chain reaction (PCR) and then sequenced and compared with NCBI GenBank records...
November 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29221318/lung-densitometry-why-how-and-when
#5
REVIEW
Mario Mascalchi, Gianna Camiciottoli, Stefano Diciotti
Lung densitometry assesses with computed tomography (CT) the X-ray attenuation of the pulmonary tissue which reflects both the degree of inflation and the structural lung abnormalities implying decreased attenuation, as in emphysema and cystic diseases, or increased attenuation, as in fibrosis. Five reasons justify replacement with lung densitometry of semi-quantitative visual scales used to measure extent and severity of diffuse lung diseases: (I) improved reproducibility; (II) complete vs. discrete assessment of the lung tissue; (III) shorter computation times; (IV) better correlation with pathology quantification of pulmonary emphysema; (V) better or equal correlation with pulmonary function tests (PFT)...
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29217818/proteomic-analysis-of-perfusate-from-machine-cold-perfusion-of-transplant-kidneys-insights-into-protection-from-injury
#6
Michael A J Moser, Katherine Sawicka, Steven Arcand, Preston O'Brien, Patrick Luke, Gavin Beck, Jolanta Sawicka, Alejandro Cohen, Grzegorz Sawicki
BACKGROUND Machine cold perfusion is beneficial to the preservation of kidneys for transplantation. At the end of preservation, the perfusion solution contains many proteins. Using a proteomics approach, we searched for useful biomarkers and potential therapeutic targets in the perfusate. Our program is unique in that all transplant kidneys (even living donor kidneys, LKD) are placed on machine cold perfusion prior to transplantation. MATERIAL AND METHODS Perfusates from donation after neurological and circulatory determination of death (DNDD and DCDD respectively) and LKD were collected (n=41) and analyzed for LDH, neutrophil gelatinase-associated lipocalin (NGAL), and matrix metalloproteinase-2 (MMP-2) as markers of injury...
December 8, 2017: Annals of Transplantation: Quarterly of the Polish Transplantation Society
https://www.readbyqxmd.com/read/29214586/epidemiology-of-rare-lung-diseases-the-challenges-and-opportunities-to-improve-research-and-knowledge
#7
Cormac McCarthy, Beatriz Lara Gallego, Bruce C Trapnell, Francis X McCormack
Rare lung diseases encompass a broad spectrum of conditions and affect an estimated 1.2-2.5 million people in North America and 1.5-3 million people in Europe. While individual rare lung diseases affect less than 1 in 2000 individuals, collectively they have a significant impact upon the population at large. Hence it is vital to understand firstly the epidemiology and subsequently the pathogenesis and clinical course of these disorders. Through a greater understanding of these aspects of disease, progress can be made in reducing symptoms, containing healthcare costs and utilizing resources efficiently...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29212317/targeted-measurements-of-o-and-n-glycopeptides-show-that-proteins-in-hdl-particles-are-enriched-with-specific-glycosylation-compared-to-plasma
#8
Muchena J Kailemia, Wanghui Wei, Khoa Nguyen, Elizabeth Beals, Lisa Sawrey-Kubicek, Christopher Rhodes, Chenghao Zhu, Romina Sacchi, Angela M Zivkovic, Carlito B Lebrilla
High density lipoprotein (HDL) particles are believed to be protective due to their inverse correlation with the prevalence of cardiovascular diseases. However, recent studies show that in some conditions such as heart disease and diabetes, HDL particles can become dysfunctional. Great attention has been directed toward HDL particle composition because the relative abundances of HDL constituents determine HDL's functional properties. A key factor to consider when studying the structure and composition of plasma particles is the protein glycosylation...
December 7, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/29207246/multiple-reaction-monitoring-for-the-quantitation-of-serum-protein-glycosylation-profiles-application-to-ovarian-cancer
#9
Suzanne Miyamoto, Carol D Stroble, Sandra Taylor, Qiuting Hong, Carlito B Lebrilla, Gary S Leiserowitz, Kyoungmi Kim, L Renee Ruhaak
Protein glycosylation fingerprints are widely recognized as potential markers for disease states and indeed differential glycosylation has been identified in multiple types of autoimmune diseases and several types of cancer. However, releasing the glycans leave the glycoproteins unknown, therefore there exists a need for high-throughput methods that allow quantification of site- and protein- specific glycosylation patterns from complex biological mixtures. In this study, a targeted multiple reaction monitoring (MRM)-based method for the protein- and site- specific quantitation involving serum proteins immunoglobulins A, G and M, alpha-1-antitrypsin, transferrin, alpha-2-macroglobulin, haptoglobin, alpha-1-acid glycoprotein and complement C3 was developed...
December 5, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/29206641/comparison-of-exercise-training-responses-in-copd-patients-with-and-without-alpha-1-antitrypsin-deficiency
#10
Inga Jarosch, Wolfgang Hitzl, Andreas Rembert Koczulla, Marion Wencker, Tobias Welte, Rainer Gloeckl, Sabina Janciauskiene, Klaus Kenn
BACKGROUND: The benefits of pulmonary rehabilitation (PR) on fatigue-resistant skeletal muscle fibre type I have been found to be smaller in COPD patients with alpha-1 antitrypsin deficiency (AATD) than in those without AATD. Alpha-1 antitrypsin (AAT) augmentation therapy was suggested as a potential factor of influence. Whether this finding mirrors different improvements in 6-min walk distance (6MWD) between both groups remains unknown. METHODS: 140 patients with AATD-related COPD (phenotype PiZZ, FEV1: 31 ± 8%pred...
September 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/29206626/intensive-smoking-diminishes-the-differences-in-quality-of-life-and-exacerbation-frequency-between-the-alpha-1-antitrypsin-deficiency-genotypes-pizz-and-pisz
#11
Nikolas Bernhard, Philipp M Lepper, Claus Vogelmeier, Martina Seibert, Stefan Wagenpfeil, Robert Bals, Sebastian Fähndrich
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder that is associated with low levels of circulating alpha-1-antitrypsin in serum. In comparison to the genotype PiZZ, PiSZ usually leads to lower risk of emphysema, better lung function and better survival. The aim of this study was to analyze the relationship between cigarette smoking (packyears) and the AATD genotypes (PiZZ and PiSZ) concerning quality of life (SGRQ), transfer factor of the lung for carbon monoxide (TLCO), forced expiratory volume in one second (FEV1) and exacerbation rate...
September 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/29192290/direct-conversion-of-human-fibroblasts-into-hepatocyte-like-cells-by-atf5-prox1-foxa2-foxa3-and-hnf4a-transduction
#12
Daiki Nakamori, Hiroki Akamine, Kazuo Takayama, Fuminori Sakurai, Hiroyuki Mizuguchi
Recently, it has been reported that human hepatocyte-like cells can be generated from fibroblasts by direct reprogramming technology. However, the conversion efficiency of human induced hepatocyte-like cells (hiHeps) is not high enough. In addition, comparative analysis with the existing models of hepatocytes, such as human iPS cell-derived hepatocyte-like cells and primary human hepatocytes, has not been sufficiently carried out. In this study, we screened hepatic transcription factors for efficient direct hepatic reprogramming and compared hepatic functions between hiHeps and other existing hepatocyte models...
November 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29191952/european-respiratory-society-statement-diagnosis-and-treatment-of-pulmonary-disease-in-%C3%AE-1-antitrypsin-deficiency
#13
Marc Miravitlles, Asger Dirksen, Ilaria Ferrarotti, Vladimir Koblizek, Peter Lange, Ravi Mahadeva, Noel G McElvaney, David Parr, Eeva Piitulainen, Nicolas Roche, Jan Stolk, Gabriel Thabut, Alice Turner, Claus Vogelmeier, Robert A Stockley
α1-antitrypsin deficiency (AATD) is the most common hereditary disorder in adults. It is associated with an increased risk of developing pulmonary emphysema and liver disease. The pulmonary emphysema in AATD is strongly linked to smoking, but even a proportion of never-smokers develop progressive lung disease. A large proportion of individuals affected remain undiagnosed and therefore without access to appropriate care and treatment.The most recent international statement on AATD was published by the American Thoracic Society and the European Respiratory Society in 2003...
November 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29182883/clinical-experience-with-serpina1-dna-sequencing-to-detect-alpha-1-antitrypsin-deficiency
#14
François Maltais, Nathalie Gaudreault, Christine Racine, Sébastien Thériault, Yohan Bossé
No abstract text is available yet for this article.
November 28, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29175361/the-role-of-computed-tomography-for-the-evaluation-of-lung-disease-in-alpha-1-antitrypsin-deficiency
#15
REVIEW
Michael A Campos, Alejandro A Diaz
Alpha-1 antitrypsin deficiency (AATD) is characterized by low serum levels of or dysfunctional alpha-1 proteinase inhibitor (A1-PI). In the lung parenchyma, this results in a loss of protection against the activity of serine proteases, particularly neutrophil elastase. The resultant imbalance in protease and anti-protease activity leads to an increased risk for the development of early-onset emphysema and chronic obstructive pulmonary disease (COPD). As in traditional smoke-related COPD, the assessment of the severity and disease progression of lung disease in AATD is conventionally based on lung function; however, pulmonary function tests are unable to discriminate between emphysema and airway disease, the two hallmark pathologic features of COPD...
November 23, 2017: Chest
https://www.readbyqxmd.com/read/29163550/evaluation-of-alpha-1-antitrypsin-levels-and-serpina1-gene-polymorphisms-in-sickle-cell-disease
#16
Magda Oliveira Seixas Carvalho, André Luís Carvalho Santos Souza, Mauricio Batista Carvalho, Ana Paula Almeida Souza Pacheco, Larissa Carneiro Rocha, Valma Maria Lopes do Nascimento, Camylla Vilas Boas Figueiredo, Caroline Conceição Guarda, Rayra Pereira Santiago, Adekunle Adekile, Marilda de Souza Goncalves
Alpha-1 antitrypsin (AAT) is an inhibitor of neutrophil elastase and a member of the serine proteinase inhibitor (serpin) superfamily, and little is known about its activity in sickle cell disease (SCD). We hypothesize that AAT may undergo changes in SCD because of the high oxidative stress and inflammation associated with the disease. We have found high AAT levels in SCD patients compared to controls, while mutant genotypes of SERPINA1 gene had decreased AAT levels, in both groups. AAT showed negative correlation with red blood cells, hemoglobin (Hb), hematocrit, high-density lipoprotein cholesterol, urea, creatinine, and albumin and was positively correlated with mean corpuscular Hb concentration, white blood cells, neutrophils, Hb S, bilirubin, lactate dehydrogenase, ferritin, and C-reactive protein...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29158881/serum-proteomic-profiling-of-obsessive-compulsive-disorder-washing-subtype-a-preliminary-study
#17
Mona Zamanian-Azodi, Mostafa Rezaei-Tavirani, Naser Nejadi, Afsaneh Arefi Oskouie, Faird Zayeri, Mostafa Hamdieh, Akram Safaei, Majid Rezaei-Tavirani, Alireza Ahmadzadeh, Alireza Amouzandeh-Nobaveh, Farshad Okhovatian
Introduction: Obsessive-Compulsive Disorder (OCD) is a disabling mental condition that its proteomic profiling is not yet investigated. Proteomics is a valuable tool to discover biomarker approaches. It can be helpful to detect protein expression changes in complex disorders such as OCD. Methods: Here, by the application of 2D gel electrophoresis (2DE), a pilot study of serum proteome profile of females with washing subtype of OCD was performed. Serum samples were obtained from females with washing subtype of OCD...
July 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/29158672/lung-transplantation-and-survival-outcomes-in-patients-with-oxygen-dependent-copd-with-regard-to-their-alpha-1-antitrypsin-deficiency-status
#18
Magnus Ekström, Hanan Tanash
Background: Individuals with severe alpha-1 antitrypsin deficiency (AATD) have an increased risk of developing COPD. However, outcomes during long-term oxygen therapy (LTOT) in patients with severe AATD and hypoxemia are unknown. Patients and methods: This was a prospective, population-based, consecutive cohort study of patients on LTOT due to COPD in the period from January 1, 1987, to June 30, 2015, in the Swedish National Registry for Respiratory Failure (Swedevox)...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29144158/glycosylation-repurposes-alpha-1-antitrypsin-for-resolution-of-community-acquired-pneumonia
#19
Cormac McCarthy, Danielle M Dunlea, Radka Saldova, Michael Henry, Paula Meleady, Oliver J McElvaney, Brian Marsh, Pauline M Rudd, Emer P Reeves, Noel G McElvaney
No abstract text is available yet for this article.
November 16, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29122334/alpha-1-antitrypsin-deficiency-associated-with-the-pi-q0our%C3%A3-m-allele-in-a-2-year-old-girl-and-family-study-an-unusual-case
#20
Ramón Antonio Tubío-Pérez, Milagros Blanco-Pérez, Cristina Ramos-Hernández, María Torres-Durán
No abstract text is available yet for this article.
November 6, 2017: Archivos de Bronconeumología
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