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antitrypsin deficiency

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https://www.readbyqxmd.com/read/29289686/the-therapeutic-potential-of-hyaluronan-in-copd
#1
Gerard M Turino, Shuren Ma, Yong Y Lin, Jerome O Cantor
Insights into the clinical course in COPD indicate the need for new therapies in COPD. The discovery of alpha-1 antitrypsin deficiency (AATD) led to the protease-antiprotease imbalance hypothesis which was applied to COPD related and not related to AATD. The discovery of AATD brought recognition to the importance of elastin fibers in maintaining lung matrix structure. Two cross-linking amino acids are unique to mature elastin, desmosine and isodesmosine (DI), which can serve as biomarkers of the degradation of elastin...
December 28, 2017: Chest
https://www.readbyqxmd.com/read/29259521/nuclease-mediated-gene-therapies-for-inherited-metabolic-diseases-of-the-liver%C3%A2-%C3%A2
#2
REVIEW
Taylor E Bryson, Caitlin M Anglin, P Hudson Bridges, Renee N Cottle
Inherited metabolic diseases (IMDs) of the liver represent a vast and diverse group of rare genetic diseases characterized by the loss or dysfunction of enzymes or proteins essential for metabolic pathways in the liver. Conventional gene therapy involving adeno-associated virus (AAV) serotype 8 vectors provide therapeutically high levels of hepatic transgene expression facilitating the correction of the disease phenotype in pre-clinical studies and are currently being evaluated in clinical trials for multiple IMDs...
December 2017: Yale Journal of Biology and Medicine
https://www.readbyqxmd.com/read/29238183/gene-and-mirna-expression-profiles-in-pbmcs-from-patients-with-severe-and-mild-emphysema-and-pizz-alpha1-antitrypsin-deficiency
#3
Cristina Esquinas, Sabina Janciauskiene, Ricardo Gonzalo, Gemma Mas de Xaxars, Beata Olejnicka, Irene Belmonte, Miriam Barrecheguren, Esther Rodriguez, Alexa Nuñez, Francisco Rodriguez-Frias, Marc Miravitlles
Introduction: COPD has complex etiologies involving both genetic and environmental determinants. Among genetic determinants, the most recognized is a severe PiZZ (Glu342Lys) inherited alpha1-antitrypsin deficiency (AATD). Nonetheless, AATD patients present a heterogeneous clinical evolution, which has not been completely explained by sociodemographic or clinical factors. Here we performed the gene expression profiling of blood cells collected from mild and severe COPD patients with PiZZ AATD...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29233247/pelvic-organ-prolapse-in-a-fighter-pilot-with-alpha-1-antitrypsin-deficiency
#4
Kerry Buckley, Jami Gann, Heather Barbier, Joy Greer
BACKGROUND: Few researchers have studied symptomatic younger to middle-aged women with pelvic organ prolapse. The association between highly strenuous activity and prolapse symptoms is largely theoretical. It is also known that a genetic component likely contributes to early-onset pelvic organ prolapse, but prevention and treatment with respect to this has not been explored. Service restrictions differ for active duty women who are diagnosed with symptomatic pelvic organ prolapse. CASE REPORT: We present a case of a 33-yr-old Gravida 1 Para 1 fighter pilot who developed symptomatic pelvic organ prolapse after a vaginal delivery...
January 1, 2018: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/29232161/characterization-of-novel-missense-variants-of-serpina1-gene-causing-alpha-1-antitrypsin-deficiency
#5
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/29225784/diagnosing-alpha-1-antitrypsin-deficiency-the-first-step-in-precision-medicine
#6
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/29221318/lung-densitometry-why-how-and-when
#7
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/29214586/epidemiology-of-rare-lung-diseases-the-challenges-and-opportunities-to-improve-research-and-knowledge
#8
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/29206641/comparison-of-exercise-training-responses-in-copd-patients-with-and-without-alpha-1-antitrypsin-deficiency
#9
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
#10
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/29191952/european-respiratory-society-statement-diagnosis-and-treatment-of-pulmonary-disease-in-%C3%AE-1-antitrypsin-deficiency
#11
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
#12
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
#13
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/29158672/lung-transplantation-and-survival-outcomes-in-patients-with-oxygen-dependent-copd-with-regard-to-their-alpha-1-antitrypsin-deficiency-status
#14
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/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
#15
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
https://www.readbyqxmd.com/read/29109288/an-rna-structure-mediated-posttranscriptional-model-of-human-%C3%AE-1-antitrypsin-expression
#16
Meredith Corley, Amanda Solem, Gabriela Phillips, Lela Lackey, Benjamin Ziehr, Heather A Vincent, Anthony M Mustoe, Silvia B V Ramos, Kevin M Weeks, Nathaniel J Moorman, Alain Laederach
Chronic obstructive pulmonary disease (COPD) affects over 65 million individuals worldwide, where α-1-antitrypsin deficiency is a major genetic cause of the disease. The α-1-antitrypsin gene, SERPINA1, expresses an exceptional number of mRNA isoforms generated entirely by alternative splicing in the 5'-untranslated region (5'-UTR). Although all SERPINA1 mRNAs encode exactly the same protein, expression levels of the individual mRNAs vary substantially in different human tissues. We hypothesize that these transcripts behave unequally due to a posttranscriptional regulatory program governed by their distinct 5'-UTRs and that this regulation ultimately determines α-1-antitrypsin expression...
November 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29093978/should-serum-protein-electrophoresis-be-a-surrogate-for-liver-biopsy-in-some-cases-of-alpha1-antitrypsin-deficiency
#17
Newton Key Hokama, Marcelo Padovani de Toledo Moraes, Paula de Oliveira Montandon Hokama, Fernando Gomes Romeiro
Most patients with alpha1 antitrypsin deficiency do not receive this diagnosis until developing severe complications, in particular when respiratory symptoms are absent. This is a reason for making alpha1 antitrypsin deficiency a possible diagnosis among patients with cryptogenic cirrhosis or other conditions of liver disease without a clear etiology. In this report, a case of cryptogenic cirrhosis is presented, showing the role of serum protein electrophoresis in the diagnosis, which was made before liver biopsy...
2017: Case Reports in Hepatology
https://www.readbyqxmd.com/read/29090095/case-finding-for-alpha1-antitrypsin-deficiency-in-kazakh-patients-with-copd
#18
Ardak Zhumagaliyeva, Stefania Ottaviani, Timm Greulich, Marina Gorrini, Claus Vogelmeier, Ludmila Karazhanova, Gulmira Nurgazina, Annalisa DeSilvestri, Victor Kotke, Valentina Barzon, Michele Zorzetto, Angelo Corsico, Ilaria Ferrarotti
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens. METHODS: The alpha1-antitrypsin (AAT) concentration was determined by nephelometry, PCR was used to detect PiS and PiZ alleles; and isoelectric focusing was used to confirm questionable genotype results and detect rare AAT variants...
2017: Multidisciplinary Respiratory Medicine
https://www.readbyqxmd.com/read/29075339/berberine-ameliorates-non-alcoholic-steatohepatitis-in-apoe-mice
#19
Jin Yang, Xiao-Jie Ma, Ling Li, Lei Wang, Ying-Gi Chen, Jing Liu, Yan Luo, Zhen-Jie Zhuang, Wen-Jun Yang, Shu-Fei Zang, Jun-Ping Shi
The aim of the present study was to explore the protective effects of Berberine (BBR) against non-alcoholic steatohepatitis (NASH). Male 4-week-old C57BL/6J Apolipoprotein E-deficient (ApoE(-/-)) mice were divided into the following three groups, which were given different diets: Normal chow diet (SC group); high-fat high-cholesterol diet (HFHC group); and HFHC diet supplemented with BBR (BBR group). Serum biochemical indicators of hepatic function and histological liver tissue changes were evaluated. The expression of neutrophil elastase (NE) and genes involved in the inflammatory response was measured...
November 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29072333/large-scale-purification-of-high-purity-%C3%AE-1-antitrypsin-from-cohn-fraction-iv-with-virus-inactivation-by-solvent-detergent-and-dry-heat-treatment
#20
Chaoji Huangfu, Jinchao Zhang, Yuyuan Ma, Junting Jia, Jingxuan Li, Maomin Lv, Xiaowei Ma, Xiong Zhao, Jingang Zhang
α1-antitrypsin (AAT) is widely used to treat patients with congenital AAT deficiency. Cohn Fraction IV (Cohn F IV) is normally discarded during the manufacturing process of albumin but contains approximately 33% of plasma AAT. We established a new process for large-scale purification of AAT from it. LC-ESI-MS/MS and HPLC were applied for qualitative identification and composition analysis, respectively. Stabilizers were optimized for AAT activity protection during lyophilization and dry-heat. Virus inactivation by dry-heat and solvent/detergent (S/D) was validated on a range of viruses...
October 26, 2017: Biotechnology and Applied Biochemistry
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