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Relevant bibliographies by topics / Alpha 1-antitrypsin deficiency. Lungs alpha 1-Antitrypsin Deficiency. Lung Diseases

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Academic literature on the topic 'Alpha 1-antitrypsin deficiency. Lungs alpha 1-Antitrypsin Deficiency. Lung Diseases'

Author: Grafiati

Published: 4 June 2021

Last updated: 8 February 2022

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Journal articles on the topic "Alpha 1-antitrypsin deficiency. Lungs alpha 1-Antitrypsin Deficiency. Lung Diseases"

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MELNIK, S. I., M. V. PINEVSKAYA, E. A. ORLOVA, S. V. STAREVSKAYA, I. Y. MELNIKOVA, and V. I. LARIONOVA. "ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN." Medical Council, no. 9 (July 18, 2017): 166–70. http://dx.doi.org/10.21518/2079-701x-2017-9-166-170.

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Hereditary deficiency of the alpha-1-antitrypsin occupies a leading position among the causes of chronic nonspecific lung diseases with emphysema formation. Deficiency of alpha-1-antitrypsin is a potentially fatal hereditary disease, under-diagnosed by physicians of various specialities. The authors familiarize pediatricians with this hereditary disease, difficulties of its diagnosis and treatment. There are presented own author`s data on the diagnosis and the experience of the enzyme replacement therapy of alpha-1-antitrypsin deficiency with the drug INN «Alpha-1 antitrypsin human» (Respikam)

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Summ, O., N. Gregor, M. Marziniak, I. Gralow, IW Husstedt, and S. Evers. "Cluster Headache and Alpha 1-antitrypsin Deficiency." Cephalalgia 30, no. 1 (2009): 113–17. http://dx.doi.org/10.1111/j.1468-2982.2009.01897.x.

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Little is known about the pathophysiology of cluster headache (CH), one of the most debilitating primary headaches. Interestingly, associations of lung affecting diseases or lifestyle habits such as smoking and sleep apnoea syndrome and CH have been described. Certain genotypes for alpha 1-antitrypsin (α1-AT) are considered risk factors for emphysema. Our aim was to investigate possible associations between common genotypes of the SERPINA1 gene and CH. Our study included 55 CH patients and 55 controls. α1-AT levels in serum and the genotype were analysed. Patients CH characteristics were docum

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Topic, Aleksandra, Marija Stankovic, Aleksandra Divac-Rankov, et al. "Alpha-1-Antitrypsin Deficiency in Serbian Adults with Lung Diseases." Genetic Testing and Molecular Biomarkers 16, no. 11 (2012): 1282–86. http://dx.doi.org/10.1089/gtmb.2012.0152.

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Volynets, G. V., and A. V. Nikitin. "Pathophysiological aspects of liver damage in children with alpha-1-antitrypsin deficiency." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, no. 1 (2020): 11–21. http://dx.doi.org/10.21508/1027-4065-2020-65-1-11-21.

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Alpha-1-antitrypsin deficiency is an autosomal recessive disease characterized by both liver damage and lung disease in children and adults because of a decrease in the serum protein content due to the mutations in the PI (proteinase inhibitor) gene. The majority of liver diseases are associated with a homozygous mutation of the Z allele. There are many variations of clinical manifestations of the liver disease in children with the PI*ZZ genotype. In the neonatal period, liver disease is usually cholestatic; and it is accompanied by a prolonged cholestatic jaundice, skin itching, which can be

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Hersh, Craig P. "Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine." F1000Research 6 (November 27, 2017): 2049. http://dx.doi.org/10.12688/f1000research.12399.1.

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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 o

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Tejwani, Vickram, and James K. Stoller. "The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency." Therapeutic Advances in Chronic Disease 12_suppl (January 2021): 204062232199569. http://dx.doi.org/10.1177/2040622321995691.

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Alpha-1 antitrypsin (AAT) deficiency (AATD) is an autosomal co-dominant condition that predisposes to the development of lung disease, primarily emphysema. Emphysema results from the breakdown of lung matrix elastin by proteases, including neutrophil elastase, a protease normally inhibited by AAT. AATD also predisposes to liver (cirrhosis) and skin (panniculitis) disease, and to vasculitis. The prevalence of AATD is estimated to be approximately 1 in 3,500 individuals in the United States. However, lack of awareness of AATD among some physicians, misperceptions regarding the absence of effecti

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Pervakova, M. Y., V. L. Emanuel, O. N. Titova, et al. "The Diagnostic Value of Alpha-1-Antitrypsin Phenotype in Patients with Granulomatosis with Polyangiitis." International Journal of Rheumatology 2016 (2016): 1–5. http://dx.doi.org/10.1155/2016/7831410.

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The deficiency of alpha-1 protease inhibitor, or alpha-1-antitrypsin (A1AT), predisposes to chronic lung diseases and extrapulmonary pathology. Besides classical manifestations, such as pulmonary emphysema and liver disease, alpha-1-antitrypsin deficiency (A1ATD) is also known to be associated with granulomatosis with polyangiitis (GPA or Wegener’s granulomatosis). The aim of our study was to evaluate the frequency of allelic isoforms of A1AT and their clinical significance among GPA patients. Detailed clinical information, including Birmingham Vasculitis Activity Score (BVAS), incidence of lu

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Karatas, Esra, and Marion Bouchecareilh. "Alpha 1-Antitrypsin Deficiency: A Disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways." International Journal of Molecular Sciences 21, no. 4 (2020): 1493. http://dx.doi.org/10.3390/ijms21041493.

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Human cells express large amounts of different proteins continuously that must fold into well-defined structures that need to remain correctly folded and assemble in order to ensure their cellular and biological functions. The integrity of this protein balance/homeostasis, also named proteostasis, is maintained by the proteostasis network (PN). This integrated biological system, which comprises about 2000 proteins (chaperones, folding enzymes, degradation components), control and coordinate protein synthesis folding and localization, conformational maintenance, and degradation. This network is

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Bari, Ferrarotti, Di Silvestre, et al. "Adipose Mesenchymal Extracellular Vesicles as Alpha-1-Antitrypsin Physiological Delivery Systems for Lung Regeneration." Cells 8, no. 9 (2019): 965. http://dx.doi.org/10.3390/cells8090965.

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Accumulating evidence shows that Mesenchymal Stem/Stromal Cells (MSCs) exert their therapeutic effects by the release of secretome, made of both soluble proteins and nano/microstructured extracellular vesicles (EVs). In this work, for the first time, we proved by a proteomic investigation that adipose-derived (AD)-MSC-secretome contains alpha-1-antitrypsin (AAT), the main elastase inhibitor in the lung, 72 other proteins involved in protease/antiprotease balance, and 46 proteins involved in the response to bacteria. By secretome fractionation, we proved that AAT is present both in the soluble

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Chorostowska-Wynimko, Joanna. "Targeted screening programmes in COPD: how to identify individuals with α1-antitrypsin deficiency". European Respiratory Review 24, № 135 (2015): 40–45. http://dx.doi.org/10.1183/09059180.00010614.

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α1-antitrypsin deficiency (AATD) is a significantly under-recognised autosomal genetic disorder with <10% of affected individuals being clinically diagnosed. Moreover, rigorous genetic epidemiological data regarding AATD are lacking. The majority of findings come from the USA and Western Europe, and no information is available for many countries. To address this concern, an α1-antitrypsin (AAT) laboratory was set up in 2009 at the National Institute of Tuberculosis and Lung Diseases (Warsaw, Poland). In 2010, an AATD screening programme targeting patients with respiratory disorders was init

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Dissertations / Theses on the topic "Alpha 1-antitrypsin deficiency. Lungs alpha 1-Antitrypsin Deficiency. Lung Diseases"

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Piitulainen, Eeva. "Lung function in alpha1-antitrypsin deficiency register-based studies of its natural course and risk factors /." Malmö : Malmö University Hospital : Lund : Lund University, 1998. http://books.google.com/books?id=ZPprAAAAMAAJ.

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Ward, Helen Marie. "Discordant lung function in alpha-1-antitrypsin deficiency." Thesis, University of Birmingham, 2015. http://etheses.bham.ac.uk//id/eprint/5878/.

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Differing emphysema distribution in alpha-1-antitrypsin deficiency (A1AD) relates to specific lung function abnormalities. This thesis explores which factors need to be taken into account when defining A1AD phenotypes. Miller’s lung function prediction equations were the most appropriate for our A1AD population as judged from predicting their survival. A1AD phenotypes were defined by Kco and FEV\(_1\)/FVC using these equations. Those with normal lung function and those with isolated Kco abnormality had the least smoking history, least emphysema and best health status whereas those with both in

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Elzouki, Abdul-Nasser. "Alpha₁-Antitrypsin deficiency (PiZ) clinical studies with special regard to hepatic and vasculitic disorders /." Malmö : Dept. of Medicine, University of Lund, University Hospital, 1998. http://catalog.hathitrust.org/api/volumes/oclc/39219467.html.

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Mela, Marianna. "A pathogenic role for alpha-1-antitrypsin polymers in liver injury." Thesis, University of Cambridge, 2016. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.709473.

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Gildea, Thomas R. "An Analysis of Post Lung Transplant FEV1 Change in Alpha-1 Antitrypsin Deficiency." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1247086953.

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Choate, Radmila. "ESTIMATING DISEASE SEVERITY, SYMPTOM BURDEN AND HEALTH-RELATED BEHAVIORS IN PATIENTS WITH CHRONIC PULMONARY DISEASES." UKnowledge, 2019. https://uknowledge.uky.edu/epb_etds/22.

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Chronic pulmonary diseases include a wide range of illnesses that differ in etiology, prevalence, symptomatology and available therapy. A common link among these illnesses is their impact on patients’ vital function of breathing, high symptom burden and significantly impaired quality of life. This dissertation research evaluates disease severity, symptom burden and health behaviors of patients with three different chronic pulmonary conditions. First, alpha-1 antitrypsin deficiency (AATD) is an inherited condition that typically is associated with an increased risk of early onset pulmonary emph

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Silva, Deolinda Isabel Fernandes da. "Alpha-1-Antitrypsin deficiency, exploring the role of SERPINA1 rare variants and searching for genetic modifiers of associated diseases (Granulomatosis with Polyangiitis)." Dissertação, 2014. https://repositorio-aberto.up.pt/handle/10216/77090.

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Silva, Deolinda Isabel Fernandes da. "Alpha-1-Antitrypsin deficiency, exploring the role of SERPINA1 rare variants and searching for genetic modifiers of associated diseases (Granulomatosis with Polyangiitis)." Master's thesis, 2014. https://repositorio-aberto.up.pt/handle/10216/77090.

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Asseiro, Mariana Serra de Pires. "Avaliação do enfisema no défice de alfa 1-antitripsina: estudo funcional respiratório vs densitometria por tc." Master's thesis, 2017. http://hdl.handle.net/10316/81822.

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Trabalho de Projeto do Mestrado Integrado em Medicina apresentado à Faculdade de Medicina<br>Background: Alpha 1-antitrypsin deficiency (A1ATD) is a genetic disease associated with the presence of pulmonary emphysema. Currently, computed tomography (CT) scan densitometry is recognized as the most sensitive method for detecting and quantifying emphysema. However, it has some limitations that preclude its use in the follow-up of patients.Aims:The aim of this study was to evaluate whether the extension of the emphysema determined by CT scan densitometry could be evaluated by the lung function tes

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Saraiva, Ana Raquel Mota Barbosa Prata. "Caracterização das Alterações Pulmonares nos Doentes com Défice Intermédio de Alfa1-Antitripsina." Master's thesis, 2017. http://hdl.handle.net/10316/82612.

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Trabalho de Projeto do Mestrado Integrado em Medicina apresentado à Faculdade de Medicina<br>Introdução: O défice intermédio de Alfa1-antitripsina (AAT) caracteriza-se por níveis séricos de AAT>50mg/dL em doentes com genótipos SZ, MZ, SS e MS (ou outras mutações mais raras). Apesar dos vários estudos publicados, o risco de doença pulmonar nestes doentes não se encontra bem esclarecido. Objetivos: Com este estudo retrospetivo, pretende-se avaliar a existência de alterações pulmonares e as suas características em doentes com défice intermédio de AAT, bem como a sua relação com o nível sérico de

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Books on the topic "Alpha 1-antitrypsin deficiency. Lungs alpha 1-Antitrypsin Deficiency. Lung Diseases"

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An Alpha-1 COPD love story. Small Batch Books, 2011.

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Panniculitis. Saunders, 2008.

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National Institutes of Health (U.S.). Clinical Center, ed. Understanding alpha-1 antitrypsin deficiency. National Institutes of Health, Clinical Center, 1994.

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Crystal. Alpha 1 - Antitrypsin Deficiency (Lung Biology in Health and Disease). Informa Healthcare, 1995.

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G, Crystal Ronald, ed. Alpha 1-antitrypsin deficiency: Biology, pathogenesis, clinical manifestations, therapy. Marcel Dekker, 1996.

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Nasimudeen, Abdul. Screening for respiratory disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0352.

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Routine screening for respiratory diseases is currently not available to the general healthy population, with the exception of screening for cystic fibrosis. This chapter discusses the screening strategies in place for cystic fibrosis, TB, and other conditions, such as COPD, lung cancer, alpha-1 antitrypsin deficiency, pulmonary hypertension, pulmonary arteriovenous malformation, and obstructive sleep apnoea, for which screening can be applied. While screening has the potential to improve quality of life through early diagnosis and management, it is not an easy process and cannot offer a guara

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Blanco, Ignacio. Blanco's Overview of Alpha-1 Antitrypsin Deficiency: History, Biology, Pathophysiology, Related Diseases, Diagnosis and Treatment. Elsevier Science & Technology Books, 2017.

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Jolly, Elaine, Andrew Fry, and Afzal Chaudhry, eds. Gastroenterology and hepatology. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199230457.003.0009.

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Chapter 9 covers the basic science and clinical topics relating to gastroenterology and hepatology which trainees are required to learn as part of their basic training and demonstrate in the MRCP. It covers basic science, gastrointestinal investigation, malabsorption and malnutrition, inflammatory bowel disease, acute upper gastrointestinal haemorrhage, lower gastrointestinal bleeding and related disorders, gastrointestinal infections, gastrointestinal cancer, miscellaneous gastrointestinal problems, normal liver and biliary function, variceal disease, hepatic tumours, acute (fulminant) liver

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Book chapters on the topic "Alpha 1-antitrypsin deficiency. Lungs alpha 1-Antitrypsin Deficiency. Lung Diseases"

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Sandhaus, Robert A. "Lung Disease of Alpha-1 Antitrypsin Deficiency." In Alpha-1 Antitrypsin. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-23449-6_6.

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Lomas, David A., and David H. Perlmutter. "Alpha-1-Antitrypsin Deficiency." In Protein Misfolding Diseases. John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470572702.ch18.

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Feist, D. J. F. "Alpha-1-Antitrypsin Deficiency." In Inborn Metabolic Diseases. Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-03147-6_33.

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Feist, D. "Alpha-1-Antitrypsin Deficiency." In Inborn Metabolic Diseases. Springer Berlin Heidelberg, 1990. http://dx.doi.org/10.1007/978-3-662-02613-7_41.

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Perlmutter, David H. "Alpha-1 Antitrypsin Deficiency." In Schiff's Diseases of the Liver. Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781119950509.ch31.

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Perlmutter, David H. "Alpha-1 Antitrypsin Deficiency." In Schiff's Diseases of the Liver. John Wiley & Sons, Ltd, 2017. http://dx.doi.org/10.1002/9781119251316.ch31.

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Herrine, Steven K., and Mark A. Zern. "Alpha-1-Antitrypsin Deficiency." In Diseases of the Liver and Bile Ducts. Humana Press, 1998. http://dx.doi.org/10.1007/978-1-4612-1808-1_20.

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Stockley, Robert. "AATD and Lung Disease." In Alpha-1-antitrypsin Deficiency. Elsevier, 2017. http://dx.doi.org/10.1016/b978-0-12-803942-7.00007-6.

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Stolk, Jan. "Establishing European Registries for AATD and Clinical Trials for Lung Disease." In Alpha-1-antitrypsin Deficiency. Elsevier, 2017. http://dx.doi.org/10.1016/b978-0-12-803942-7.00012-x.

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Blanco, Ignacio. "Clinical Management and Treatment of Lung Disease." In Blanco's Overview of Alpha-1 Antitrypsin Deficiency. Elsevier, 2017. http://dx.doi.org/10.1016/b978-0-12-809530-0.00013-1.

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Conference papers on the topic "Alpha 1-antitrypsin deficiency. Lungs alpha 1-Antitrypsin Deficiency. Lung Diseases"

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Vu, HT, NN Zein, SC Murthy, et al. "Liver Disease after Lung Transplant in Alpha-1 Antitrypsin Deficiency." In American Thoracic Society 2009 International Conference, May 15-20, 2009 • San Diego, California. American Thoracic Society, 2009. http://dx.doi.org/10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a3517.

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Mendez, K., I. V. Lamboy-Hernandez, L. M. Villarrubia Ocasio, and J. R. Aleman-Ortiz. "An Unusual Association Between Alpha-1 Antitrypsin Deficiency and Interstitial Lung Disease: Case Report." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a6443.

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Ellis, Paul, Kristen Holm, Radmila Choate, et al. "Comparison of outcomes in augmentation naïve and augmented patients with alpha-1 antitrypsin deficiency related lung disease." In ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.pa3383.

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Cortes, R. Y., S. Weigt, and I. Barjaktarevic. "Progressive Obstructive Lung Disease After Liver Transplantation in Relapsed Smoker with Alpha-1 Antitrypsin Deficiency Requiring Bilateral Lung Transplantation." In American Thoracic Society 2021 International Conference, May 14-19, 2021 - San Diego, CA. American Thoracic Society, 2021. http://dx.doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a2384.

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Barrecheguren Fernandez, Miriam, Mónica Pons, María Torres, et al. "Screening of chronic liver disease by transient elastography in patients with lung disease associated with alpha-1 antitrypsin deficiency." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa569.

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Robins, Daniel C., Sonia Vishin, Rupesh Dave, et al. "Pneumonia, BOS, And Survival Rates Following Lung Transplantation For Alpha-1 Antitrypsin Deficiency: Comparison With Chronic Obstructive Pulmonary Disease." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a4653.

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MARA PEREIRA BEZERRA, CYNTHIA, and CARMEN SILVIA BERTUZZO. "As the deficiency of alpha-1 antitrypsin glycoprotein affects the severity of lung disease among patients with Cystic Fibrosis." In XXIV Congresso de Iniciação Científica da UNICAMP - 2016. Galoa, 2016. http://dx.doi.org/10.19146/pibic-2016-51997.

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Gupta, N., N. Gaudreault, S. Thériault, et al. "Alpha-1 Antitrypsin Deficiency and Chronic Obstructive Pulmonary Disease (COPD) Phenotypes in a Canadian Population: From the Canadian Obstructive Lung Disease (CanCOLD) Cohort Study." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a4568.

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Stone, Helen, Ross Edgar, Richard Thompson, and Rob Stockley. "Lung transplantation in alpha 1 antitrypsin deficiency." In Annual Congress 2015. European Respiratory Society, 2015. http://dx.doi.org/10.1183/13993003.congress-2015.pa4548.

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Ward, Helen, and Rob Stockley. "Discordant Lung Function Groups In Alpha-1-antitrypsin Deficiency (A1AD)." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a1536.

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