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antitrypsin deficiency

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
https://www.readbyqxmd.com/read/29070580/copd-in-individuals-with-the-pimz-alpha-1-antitrypsin-genotype
#7
REVIEW
Haitham S Al Ashry, Charlie Strange
Since the discovery of severe alpha-1 antitrypsin deficiency as a genetic risk factor for emphysema, there has been ongoing debate over whether individuals with intermediate deficiency with one protease inhibitor Z allele (PiMZ, or MZ) are at some risk for emphysema. This is important, because MZ individuals comprise 2-5% of the general population. In this review we summarise the evidence about the risks of the MZ population to develop emphysema or asthma. We discuss the different study designs that have tried to answer this question...
December 31, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/29062067/alpha-1-antitrypsin-augmentation-therapy-decreases-mir-199a-5p-mir-598-and-mir-320a-expression-in-monocytes-via-inhibition-of-nf%C3%AE%C2%BAb
#8
Tidi Hassan, Chiara de Santi, Catherine Mooney, Noel G McElvaney, Catherine M Greene
Alpha-1 antitrypsin (AAT) augmentation therapy involves infusion of plasma-purified AAT to AAT deficient individuals. Whether treatment affects microRNA expression has not been investigated. This study's objectives were to evaluate the effect of AAT augmentation therapy on altered miRNA expression in monocytes and investigate the mechanism. Monocytes were isolated from non-AAT deficient (MM) and AAT deficient (ZZ) individuals, and ZZs receiving AAT. mRNA (qRT-PCR, microarray), miRNA (miRNA profiling, qRT-PCR), and protein (western blotting) analyses were performed...
October 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29055397/vitamin-k-deficit-and-elastolysis-theory-in-pulmonary-elasto-degenerative-diseases
#9
Rob Janssen, Cees Vermeer
Elastin is a unique protein providing deformability and resilience to dynamic tissues, such as arteries and lungs. It is an absolute basic requirement for circulation and respiration. Elastin can be degraded by elastases and has a high calcium affinity. Elastin calcification and elastin degradation are two pathological processes that impair elastin's functioning. Furthermore, elastin degradation can be associated to elastin calcification. Matrix Gla Protein (MGP) is probably the most potent natural inhibitor of elastin calcification and requires vitamin K for its activation...
October 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29049242/the-prevalence-of-pi-s-and-pi-z-serpina1-alleles-in-healthy-individuals-and-copd-patients-in-saudi-arabia-a-case-control-study
#10
Noura Al-Jameil, Amina A Hassan, Rana Hassanato, Sree R Isac, Maram Al Otaiby, Fadwa Al-Shareef, Basmah Al-Maarik, Iman Al Ajeyan, Khloud Al-Bahloul, Samina Ghani, Dana Al-Torbak
Alpha-1 antitrypsin (AAT) is an acute phase protein produced in hepatocytes. Its deficiency affects the lungs and liver. A case-control study was carried out to determine the prevalence of 2 common deficiency alleles, PI*S and PI*Z, for alpha-1 antitrypsin deficiency (AATD) in both healthy and chronic obstructive pulmmonary disease (COPD)-affected Saudi populations and to clarify the importance of genetic tests in the screening of people at risk for COPD.One thousand blood samples from healthy individuals and 1000 from COPD-affected Saudi individuals were genotyped for the above-mentioned alleles, using real-time polymerase chain reaction (PCR), with the exclusion of any other nationalities...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29043847/smoking-related-interstitial-fibrosis-evidence-of-radiologic-regression-with-advancing-age-and-smoking-cessation
#11
Aurélie Fabre, Ann Treacy, Lisa P Lavelle, Maciek Narski, Nazia Faheem, David Healy, Jonathan D Dodd, Michael P Keane, James J Egan, Gilles Jebrak, Hervé Mal, Marcus W Butler
More data are needed regarding the radiology, co-morbidities and natural history of smoking-related interstitial fibrosis (SRIF), a common pathological finding, mainly described heretofore in association with lung cancer, where respiratory bronchiolitis (RB) usually co-exists. We prospectively acquired high resolution CT scan data (edge-enhancing lung reconstructions) to detect any radiologic interstitial lung abnormality (ILA) in individuals who ultimately underwent surgical lobectomy for lung cancer (n = 20), for radiologic/pathologic correlation...
October 18, 2017: COPD
https://www.readbyqxmd.com/read/29032169/survival-advantage-of-both-human-hepatocyte-xenografts-and-genome-edited-hepatocytes-for-treatment-of-%C3%AE-1-antitrypsin-deficiency
#12
Florie Borel, Qiushi Tang, Gwladys Gernoux, Cynthia Greer, Ziqiong Wang, Adi Barzel, Mark A Kay, Leonard D Shultz, Dale L Greiner, Terence R Flotte, Michael A Brehm, Christian Mueller
Hepatocytes represent an important target for gene therapy and editing of single-gene disorders. In α-1 antitrypsin (AAT) deficiency, one missense mutation results in impaired secretion of AAT. In most patients, lung damage occurs due to a lack of AAT-mediated protection of lung elastin from neutrophil elastase. In some patients, accumulation of misfolded PiZ mutant AAT protein triggers hepatocyte injury, leading to inflammation and cirrhosis. We hypothesized that correcting the Z mutant defect in hepatocytes would confer a selective advantage for repopulation of hepatocytes within an intact liver...
November 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28987255/genetic-testing-in-liver-disease-what-to-order-in-whom-and-when
#13
REVIEW
Emily A Schonfeld, Robert S Brown
Genetic causes of liver disease lead to a wide range of presentations, from mildly abnormal liver tests to acute liver failure. This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, lysosomal acid lipase deficiency, Gilbert syndrome, alpha-1 antitrypsin deficiency, and Wilson disease.
November 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28987047/-epidemiology-and-risk-factors-of-hepatocellular-carcinoma
#14
REVIEW
Agnieszka Budny, Piotr Kozłowski, Marzena Kamińska, Małgorzata Jankiewicz, Agnieszka Kolak, Bożena Budny, Witold Budny, Joanna Niemunis-Sawicka, Grzegorz Szczypiór, Bartosz Kurniawka, Franciszek Burdan
Primary liver neoplasms occurs relatively rarely in Poland. The most frequently occurring type of cancer is hepatocellular carcinoma (HCC), which globally constitutes 7% of all the occurrences of cancer. The incidence increases with age and is the highest in patients around the age of 70. It also varies significantly depending on the geographic location. The main factors that cause HCC are infection of HBV and HCV, whose genome integrates into the DNA of the host, causing mutations. The other factors include excessive alcohol consumption, contact or consumption of Aspergillus toxins as well as various metabolic disorders, such as α1-antitrypsin deficiency, hemochromatosis, tyrosinemia, porphyria, von Gierke disease and in person with gene mutation p...
September 29, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28985109/bioequivalence-of-a-liquid-formulation-of-alpha1-proteinase-inhibitor-compared-with-prolastin%C3%A2-c-lyophilized-alpha1-pi-in-alpha1-antitrypsin-deficiency
#15
Alan F Barker, Michael A Campos, Mark L Brantly, James M Stocks, Robert A Sandhaus, Douglas Lee, Kimberly Steinmann, Jiang Lin, Susan Sorrells
This study evaluated the bioequivalence, safety, and immunogenicity of a new liquid formulation of human plasma-derived alpha1-proteinase inhibitor, Liquid Alpha1-PI, compared with the Lyophilized Alpha1-PI formulation (Prolastin®-C), for augmentation therapy in patients with alpha1-antitrypsin deficiency (AATD). In this double-blind, randomized, 20-week crossover study, 32 subjects with AATD were randomized to receive 8 weekly infusions of 60 mg/kg of Liquid Alpha1-PI or Lyophilized Alpha1-PI. Serial blood samples were drawn for 7 days after the last dose followed by 8 weeks of the alternative treatment...
October 6, 2017: COPD
https://www.readbyqxmd.com/read/28975833/the-role-of-diagnosis-and-treatment-of-underlying-liver-disease-for-the-prognosis-of-primary-liver-cancer
#16
Ashok Shiani, Shreya Narayanan, Luis Pena, Mark Friedman
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths worldwide. Underlying chronic liver disease has been associated with an increased risk of developing HCC. This study is a review of the current literature regarding the diagnosis, prognostic significance, and role of treating underlying liver disease in patients who are at risk of primary liver cancer. Relevant peer review of the English literature between 1980 and 2017 within PubMed and the Cochrane library was conducted for scientific content on current advances in managing chronic liver diseases and the development of hepatocellular carcinoma...
July 2017: Cancer Control: Journal of the Moffitt Cancer Center
https://www.readbyqxmd.com/read/28947017/identification-of-a-new-defective-serpina1-allele-pi-zla-palma-encoding-an-alpha-1-antitrypsin-with-altered-glycosylation-pattern
#17
José M Hernández-Pérez, Ruth Ramos-Díaz, José A Pérez
BACKGROUND: Alpha-1-antitrypsin (AAT) deficiency is a genetic condition that arises from mutations in the SERPINA1 gene and predisposes to develop pulmonary emphysema and, less frequently, liver disease. Occasionally, new defective SERPINA1 alleles are detected as an outcome of targeted-screening programs or case-findings. METHODS: This study began with a female patient showing bronchial hyperreactivity. Serum level and phenotype for AAT was analysed by immunonephelometry and isoelectric focusing electrophoresis...
October 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28943279/lobar-emphysema-distribution-is-associated-with-5-year-radiological-disease-progression
#18
Adel Boueiz, Yale Chang, Michael H Cho, George R Washko, Raul San José Estépar, Russell P Bowler, James D Crapo, Dawn L DeMeo, Jennifer G Dy, Edwin K Silverman, Peter J Castaldi
BACKGROUND: Emphysema has considerable variability in its regional distribution. Craniocaudal emphysema distribution is an important predictor of the response to lung volume reduction. However, there is little consensus regarding how to define upper lobe-predominant and lower lobe-predominant emphysema subtypes. Consequently, the clinical and genetic associations with these subtypes are poorly characterized. METHODS: We sought to identify subgroups characterized by upper-lobe or lower-lobe emphysema predominance and comparable amounts of total emphysema by analyzing data from 9,210 smokers with without alpha-1-antitrypsin deficiency in the Genetic Epidemiology of COPD (COPDGene) cohort...
September 21, 2017: Chest
https://www.readbyqxmd.com/read/28929906/the-important-role-of-primary-care-providers-in-the-detection-of-alpha-1-antitrypsin-deficiency
#19
Jorge E Lascano, Michael A Campos
OBJECTIVE: Alpha-1 antitrypsin deficiency (AATD) is an underrecognized genetic disorder that can cause chronic obstructive pulmonary disease (COPD) and liver cirrhosis, two clinical conditions commonly seen by primary care physicians. AATD is estimated to affect 1/4000-1/5000 people in the United States and 1-2% of all COPD cases. METHODS: PubMed was searched for relevant articles using AAT/AATD-related terms. RESULTS: Unfortunately, <10% of symptomatic individuals have been properly diagnosed primarily due to the underdiagnosis of COPD and the lack of awareness of AATD as a possible underlying cause...
October 5, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28927525/alpha-1-antitrypsin-deficiency-genetic-variations-clinical-manifestations-and-therapeutic-interventions
#20
REVIEW
Younis Mohammad Hazari, Arif Bashir, Mudasir Habib, Samirul Bashir, Huma Habib, M Abul Qasim, Naveed Nazir Shah, Ehtishamul Haq, Jeffrey Teckman, Khalid Majid Fazili
Alpha-1-antitrypsin (AAT) is an acute phase secretory glycoprotein that inhibits neutrophil proteases like elastase and is considered as the archetype of a family of structurally related serine-protease inhibitors termed serpins. Serum AAT predominantly originates from liver and increases three to five fold during host response to tissue injury and inflammation. The AAT deficiency is unique among the protein-misfolding diseases in that it causes target organ injury by both loss-of-function and gain-of-toxic function mechanisms...
July 2017: Mutation Research
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