keyword
MENU ▼
Read by QxMD icon Read
search

Alpha 1 antitrypsin

keyword
https://www.readbyqxmd.com/read/27898561/alpha-1-antitrypsin-deficiency-pathophysiologic-features-and-the-importance-of-screening
#1
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/27877030/application-of-a-diagnostic-algorithm-for-the-rare-deficient-variant-mmalton-of-alpha-1-antitrypsin-deficiency-a-new-approach
#2
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/27855621/alpha-1-antitrypsin-deficiency-current-perspective-from-genetics-to-diagnosis-and-therapeutic-approaches
#3
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/27827549/advances-in-identifying-urine-serum-biomarkers-in-alpha-1-antitrypsin-deficiency-for-more-personalized-future-treatment-strategies
#4
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/27819491/alpha1-antitrypsin-deficiency-increased-knowledge-and-diagnostic-testing-after-viewing-short-instructional-video
#5
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/27818805/hepatocellular-carcinoma-with-prominent-intracytoplasmic-inclusions-a-report-of-two-cases
#6
Adeline R Chelliah, Jasim M Radhi
Hepatocellular carcinoma (HCC) is the commonest primary malignant neoplasm of the liver in most countries with a notoriously poor prognosis. Variation in global incidence is well-recognized and the occurrence of HCC is linked to several established environmental, dietary, and lifestyle factors. HCC demonstrates morphological heterogeneity both within the same tumor and from patient to patient. Differing architectural patterns and cytological variants may be seen. Inclusion bodies are believed to represent organized structures of proteins which contribute to their pathogenesis and share several constituents like chaperones, p62, ubiquitin, and Valosin containing protein...
2016: Case Reports in Hepatology
https://www.readbyqxmd.com/read/27814508/host-and-environmental-factors-influencing-individual-human-cytokine-responses
#7
Rob Ter Horst, Martin Jaeger, Sanne P Smeekens, Marije Oosting, Morris A Swertz, Yang Li, Vinod Kumar, Dimitri A Diavatopoulos, Anne F M Jansen, Heidi Lemmers, Helga Toenhake-Dijkstra, Antonius E van Herwaarden, Matthijs Janssen, Renate G van der Molen, Irma Joosten, Fred C G J Sweep, Johannes W Smit, Romana T Netea-Maier, Mieke M J F Koenders, Ramnik J Xavier, Jos W M van der Meer, Charles A Dinarello, Norman Pavelka, Cisca Wijmenga, Richard A Notebaart, Leo A B Joosten, Mihai G Netea
Differences in susceptibility to immune-mediated diseases are determined by variability in immune responses. In three studies within the Human Functional Genomics Project, we assessed the effect of environmental and non-genetic host factors of the genetic make-up of the host and of the intestinal microbiome on the cytokine responses in humans. We analyzed the association of these factors with circulating mediators and with six cytokines after stimulation with 19 bacterial, fungal, viral, and non-microbial metabolic stimuli in 534 healthy subjects...
November 3, 2016: Cell
https://www.readbyqxmd.com/read/27812629/prevalence-of-alpha-1-antitrypsin-deficiency-and-allele-frequency-in-patients-with-copd-in-brazil
#8
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
#9
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/27803313/optimizing-human-hepatocyte-models-for-metabolic-phenotype-and-function-effects-of-treatment-with-dimethyl-sulfoxide-dmso
#10
Nikolaos Nikolaou, Charlotte J Green, Pippa J Gunn, Leanne Hodson, Jeremy W Tomlinson
Primary human hepatocytes are considered to be the "gold standard" cellular model for studying hepatic fatty acid and glucose metabolism; however, they come with limitations. Although the HepG2 cell line retains many of the primary hepatocyte metabolic functions they have a malignant origin and low rates of triglyceride secretion. The aim of this study was to investigate whether dimethyl sulfoxide supplementation in the media of HepG2 cells would enhance metabolic functionality leading to the development of an improved in vitro cell model that closely recapitulates primary human hepatocyte metabolism...
November 2016: Physiological Reports
https://www.readbyqxmd.com/read/27802778/transplantation-of-adipose-tissue-derived-mesenchymal-stem-cell-atmsc-expressing-alpha-1-antitrypsin-reduces-bone-loss-in-ovariectomized-osteoporosis-mice
#11
Mohammad Ahsanul Akbar, Yuanqing Lu, Ahmed S Elshikha, Mong-Jen Chen, Yuan Ye, Elizabeth M Whitley, Lexie Shannon Holliday, Chang Lung-Ji, Sihong Song
Osteoporosis is a common health problem severely affecting the life quality of many people, especially women. Current treatment options for osteoporosis are limited due to their association with several side-effects and moderate efficacy. Therefore, novel therapies for osteoporosis are needed. In this study, we tested the feasibility of adipose tissue-derived mesenchymal stem cell (ATMSC) based human AAT (hAAT) gene therapy for the prevention of bone loss in an ovariectomized (OVX) mouse model. Eight-week-old female C57BL6 mice underwent ovariectomy and treated with hAAT (protein therapy), ATMSC (stem cell therapy), ATMSC+hAAT (combination of ATMSC and hAAT therapy), ATMSCs infected with lentiviral vectors expressing hAAT (ATMSC based hAAT gene therapy)...
November 1, 2016: Human Gene Therapy
https://www.readbyqxmd.com/read/27780343/gene-editing-and-genetic-lung-disease-basic-research-meets-therapeutic-application
#12
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/27773174/rationalising-alpha-1-antitrypsin-testing
#13
Kay Weng Choy, James C G Doery, Nilika Wijeratne
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27771979/recent-advances-in-understanding-and-treating-copd-related-to-%C3%AE-1-antitrypsin-deficiency
#14
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
https://www.readbyqxmd.com/read/27743359/the-use-of-multiple-reaction-monitoring-on-qqq-ms-for-the-analysis-of-protein-and-site-specific-glycosylation-patterns-in-serum
#15
L Renee Ruhaak
In recent years, high-throughput glycomics approaches have been developed and applied to either complete biofluids, cell lysates or tissues, or proteins isolated thereof. However, during such analyses the N-glycan are released from the protein backbone and therefore site- and protein-specific information is lost. There exists a need for high-throughput methods that allow quantification of site- and protein-specific glycosylation patterns from complex biological mixtures. We here describe the use of a multiple reaction monitoring mass spectrometry based method for the generation of glycopeptide profiles of the nine high abundance glycoproteins IgG, IgA, IgM, haptoglobin, alpha-1-antitrypsin, alpha-2-macroglobulin, alpha-1-acid glycoprotein, transferrin, and complement C3...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27738828/intermittent-hypoxia-contributes-to-the-lung-damage-by-increased-oxidative-stress-inflammation-and-disbalance-in-protease-antiprotease-system
#16
I Tuleta, F Stöckigt, U R Juergens, C Pizarro, J W Schrickel, G Kristiansen, G Nickenig, D Skowasch
INTRODUCTION: Intermittent hypoxia as a surrogate of obstructive sleep apnea is associated with different cardiovascular complications. However, the effects of intermittent hypoxia on the lung tissue are less known. Therefore, the aim of our present study was to investigate if intermittent hypoxia may influence oxidative stress, inflammation, and protease/antiprotease system in the lung. Additionally, potential protective properties of anti-inflammatory and anti-oxidative drugs have been evaluated...
October 13, 2016: Lung
https://www.readbyqxmd.com/read/27728630/a-case-of-alpha-1-antitrypsin-deficiency
#17
Kumar Kanishka, Anand Yogeshman, Jha Kumar Rajendra, Kachhap Sushil
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27718394/particle-based-n-linked-glycan-analysis-of-selected-proteins-from-biological-samples-using-nonglycosylated-binders
#18
Anna Sroka-Bartnicka, Isabella Karlsson, Lorena Ndreu, Alessandro Quaranta, Matthijs Pijnappel, Gunnar Thorsén
Glycosylation is one of the most common and important post-translational modifications, influencing both the chemical and the biological properties of proteins. Studying the glycosylation of the entire protein population of a sample can be challenging because variations in the concentrations of certain proteins can enhance or obscure changes in glycosylation. Furthermore, alterations in the glycosylation pattern of individual proteins, exhibiting larger variability in disease states, have been suggested as biomarkers for different types of cancer, as well as inflammatory and neurodegenerative diseases...
October 3, 2016: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/27711049/clozapine-modulates-glucosylceramide-clears-aggregated-proteins-and-enhances-atg8-lc3-in-caenorhabditis-elegans
#19
Limin Hao, Oshrit Ben-David, Suzann M Babb, Anthony H Futerman, Bruce M Cohen, Edgar A Buttner
Defining the mechanisms of action of the antipsychotic drug (APD), clozapine, is of great importance, as clozapine is more effective and has therapeutic benefits in a broader range of psychiatric disorders compared with other APDs. Its range of actions have not been fully characterized. Exposure to APDs early in development causes dose-dependent developmental delay and lethality in Caenorhabditis elegans. A previous genome-wide RNAi screen for suppressors of clozapine-induced developmental delay and lethality revealed 40 candidate genes, including sms-1, which encodes a sphingomyelin synthase...
October 26, 2016: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/27701692/-alpha-1-antitrypsin-deficiency-an-update
#20
Nikolas Bernhard, Robert Bals, Sebastian Fähndrich
Alpha-1-antitrypsin deficiency is a genetic risk factor for the development of chronic obstructive airway disease (COPD) and liver cirrhosis. The disease is widely underdiagnosed. The hallmarks of therapy are smoking cessation, prevention from environmental dust exposure and augmentation therapy. Findings from the recently published prospective, placebo-controlled and randomized RAPID trial proved effectiveness of AAT augmentation therapy for slowing progression of emphysema, measured by CT lung density. CT lung density may be more sensitive than forced exspiratory volume in one second (FEV1) or monoxid diffusion capacity (DLCO)...
September 2016: Deutsche Medizinische Wochenschrift
keyword
keyword
11294
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"