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antitrypsin deficiency

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https://www.readbyqxmd.com/read/28107169/genetic-diagnosis-of-%C3%AE-1-antitrypsin-deficiency-using-dna-from-buccal-swab-and-serum-samples
#1
Irene Belmonte, Miriam Barrecheguren, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles, Francisco Rodríguez-Frías
BACKGROUND: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are usual. The aim of this study was to validate the use of buccal swab samples and serum circulating DNA for the complete laboratory study of AATD. METHODS: Sixteen buccal swab samples from previously characterized AATD patients were analyzed using an allele-specific genotyping assay and sequencing method...
January 20, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28073160/activation-of-jnk-pathway-aggravates-proteotoxicity-of-hepatic-mutant-z-alpha1-antitrypsin
#2
Nunzia Pastore, Sergio Attanasio, Barbara Granese, Jeffrey Teckman, Andrew A Wilson, Andrea Ballabio, And Nicola Brunetti-Pierri
Alpha1-antitrypsin deficiency is a genetic disease that can affect both the lung and the liver. The vast majority of patients harbor a mutation in the SERPINA1 gene resulting in a single amino acid substitution that results in an unfolded protein that is prone to polymerization. Therefore, the liver disease is caused by a gain of function mechanism due to accumulation of the mutant Z alpha1-antitrypsin (ATZ) and is a key example of an important disease mechanism induced by protein toxicity. Intracellular retention of ATZ triggers a complex injury cascade including apoptosis and other mechanisms, although several aspects of the disease pathogenesis are still unclear...
January 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28069642/alpha-1-antitrypsin-enhances-islet-engraftment-by-suppression-of-instant-blood-mediated-inflammatory-reaction
#3
Jingjing Wang, Zhen Sun, Wenyu Gou, David B Adams, Wanxing Cui, Katherine A Morgan, Charlie Strange, Hongjun Wang
Islet cell transplantation has limited effectiveness because of an instant blood-mediated inflammatory reaction (IBMIR) that occurs immediately after cell infusion and leads to dramatic β cell death. In intraportal islet transplantation models using mouse and human islets, we demonstrated that alpha-1 antitrypsin (AAT, Prolastin-C), a serine protease inhibitor used for the treatment of AAT deficiency, inhibits IBMIR and cytokine-induced inflammation in islets. In mice, more diabetic recipients reached normoglycemia after intraportal islet transplantation when they were treated with AAT compared to mice treated with saline...
January 9, 2017: Diabetes
https://www.readbyqxmd.com/read/28059573/spirituality-illness-unpredictability-and-math-anxiety-effects-on-negative-affect-and-affect-management-coping-for-individuals-diagnosed-with-alpha-1-antitrypsin-deficiency
#4
Amber K Worthington, Roxanne L Parrott, Rachel A Smith
A growing number of genetic tests are included in diagnostic protocols associated with many common conditions. A positive diagnosis associated with the presence of some gene versions in many instances predicts a range of possible outcomes, and the uncertainty linked to such results contributes to the need to understand varied responses and plan strategic communication. Uncertainty in illness theory (UIT; Mishel, 1988, 1990) guided the investigation of efforts to feel in control and hopeful regarding genetic testing and diagnosis for alpha-1 antitrypsin deficiency (AATD)...
January 6, 2017: Health Communication
https://www.readbyqxmd.com/read/28058497/-a-rare-cause-of-severe-panniculitis
#5
C Fiehn
A 58-year-old patient presented with a severe, episodic panniculitis of the upper legs. Necrosis of the fatty tissue and a suspected superinfection led to amputation of one leg. The panniculitis was caused by a hereditary deficiency of alpha-1 antitrypsin (AAT) due to a ZZ mutation of the AAT gene. Neutrophilic panniculitis is found in 0.1% of patients with the ZZ mutation and therefore is the rarest clinical manifestation of AAT deficiency. With the exception of mild COPD, the patient had no other typical clinical symptoms of AAT deficiency...
January 5, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28056498/bone-marrow-stem-cell-therapy-partially-ameliorates-pathological-consequences-in-livers-of-mice-expressing-mutant-human-%C3%AE-1-antitrypsin
#6
Prakash Baligar, Veena Kochat, Shailendra K Arindkar, Zaffar Equbal, Snehashish Mukherjee, Swati Patel, Perumal Nagarajan, Sujata Mohanty, Jeffrey H Teckman, Asok Mukhopadhyay
: Alpha1-antitrypsin deficiency (AATD) is a genetic disease, caused by mutation of the AAT gene. Accumulation of mutated AAT protein aggregates in hepatocytes leads to endoplasmic reticulum (ER) stress resulting in impairment of liver functions and in some cases hepatocellular carcinoma, whereas decline of AAT levels in sera is responsible for pulmonary emphysema. In critical cases of liver ailments, the only option for treatment is liver transplantation, whereas AAT replacement therapy is followed in case of emphysema...
January 5, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28053854/identification-of-a-novel-alpha1-antitrypsin-variant
#7
Camille de Seynes, C Ged, H de Verneuil, N Chollet, M Balduyck, C Raherison
Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity in the serum and predisposes to emphysema and/or to liver disease due to accumulation of the abnormal protein in the hepatic cells. In most cases the clinical manifestations of A1ATD are associated with PIZZ (p.Glu366Lys; p.Glu366Lys (p.Glu342Lys; p.Glu342Lys)) or PISZ (p.Glu288Val; p.Glu366Lys (p.Glu264Val; p.Glu342Lys)) genotype, less frequently, deficient or null alleles may be present in compound heterozygous or homozygous A1AT deficient patients...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28053338/autophagy-in-the-liver-functions-in-health-and-disease
#8
REVIEW
Takashi Ueno, Masaaki Komatsu
The concept of macroautophagy was established in 1963, soon after the discovery of lysosomes in rat liver. Over the 50 years since, studies of liver autophagy have produced many important findings. The liver is rich in lysosomes and possesses high levels of metabolic-stress-induced autophagy, which is precisely regulated by concentrations of hormones and amino acids. Liver autophagy provides starved cells with amino acids, glucose and free fatty acids for use in energy production and synthesis of new macromolecules, and also controls the quality and quantity of organelles such as mitochondria...
January 5, 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28052960/%C3%AE-1-antitrypsin-deficiency-count-me-in-please
#9
EDITORIAL
Joan B Soriano, Ravi Mahadeva
No abstract text is available yet for this article.
January 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28045767/autophagy-in-hepatocytes-in-infants-with-alpha-1-atd-and-different-liver-disease-outcomes-a-retrospective-analysis
#10
Elżbieta Czarnowska, Agnieszka Bakuła, Joanna B Bierła, Justyna Niderla-Bielińska, Agnieszka Sowińska, Joanna Cielecka-Kuszyk, Piotr Socha
OBJECTIVES: It is unclear whether a distinct activity of pathways removing the AT protein in Alpha-1-Antitrypsin Deficiency (α1ATD) are associated with an unfavorable predisposition toliver disease in the future. The aim of this study was to determine whether liverspecific activity of AT protein disposal occurs at infancy in α1ATD with PiZZ phenotype (ATZ). METHODS: Liver samples of 17 infants with unfavorable ATZ outcome (Group I, n = 8, median age  = 0...
December 30, 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28018813/lung-transplantation-in-a-multidrug-resistant-gram-negative-acinetobacter-baumannii-colonized-patient-a-case-report
#11
Katharina Huenges, Alexander Reinecke, Burkhard Bewig, Assad Haneya, Jochen Cremer
Colonization or infection with various pathogens is frequently found in patients listed for lung transplantation. We describe a case of a 50-year-old woman with α-1-antitrypsin deficiency, which was listed for double-lung transplantation, with multidrug-resistant gram-negative Acinetobacter baumannii (MRGN4-Ab) skin colonization. Transplantation was successfully performed. Colistin (Polymyxine E) was administered intravenously and through inhalation in the first month. MRGN4-Ab was still detectable in skin swabs without evidence of infection...
December 2016: Thoracic and Cardiovascular Surgeon Reports
https://www.readbyqxmd.com/read/28005428/telomerase-and-the-genetics-of-emphysema-susceptibility-implications-for-pathogenesis-paradigms-and-patient-care
#12
Susan E Stanley, Samantha J Merck, Mary Armanios
In the past five decades, alpha-1 antitrypsin deficiency has been the only known genetic cause of emphysema, yet it explains the genetics in only 1-2% of severe cases. Recently, mutations in telomerase genes were found to induce susceptibility to young-onset, severe, and familial emphysema at a frequency comparable to that of alpha-1 antitrypsin deficiency. Telomerase mutation carriers with emphysema report a family history of idiopathic pulmonary fibrosis, and both lung phenotypes show autosomal dominant inheritance within families...
December 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27995906/acg-clinical-guideline-evaluation-of-abnormal-liver-chemistries
#13
Paul Y Kwo, Stanley M Cohen, Joseph K Lim
Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests should be termed liver chemistries or liver tests. Hepatocellular injury is defined as disproportionate elevation of AST and ALT levels compared with alkaline phosphatase levels. Cholestatic injury is defined as disproportionate elevation of alkaline phosphatase level as compared with AST and ALT levels...
January 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27938510/bile-duct-ligation-induces-atz-globule-clearance-in-a-mouse-model-of-alpha-1-antitrypsin-deficiency
#14
Zahida Khan, Shinichiro Yokota, Yoshihiro Ono, Aaron Bell, Michael Oertel, Donna Stolz, George Michalopoulos
<p>Background: Alpha-1 antitrypsin deficiency (A1ATD) can progress to cirrhosis and hepatocellular carcinoma; however, not all patients are susceptible to severe liver disease. In A1ATD, a toxic gain-of-function mutation generates insoluble ATZ "globules" in hepatocytes, overwhelming protein clearance mechanisms. The relationship between bile acids and hepatocytic autophagy is less clear, but may involve altered gene expression pathways. Based on previous findings that bile duct ligation (BDL) induces autophagy, we hypothesized that retained bile acids may have hepatoprotective effects in PiZZ transgenic mice, which model A1ATD...
18, 2016: Gene Expression
https://www.readbyqxmd.com/read/27931577/liver-transplantation-in-polish-children-with-%C3%AE-1-antitrypsin-deficiency-a-single-center-experience
#15
A Bakula, J Pawlowska, O Niewiadomska, I Jankowska, M Teisseyre, P Kaliciński, P Socha
BACKGROUND: α1-Antitrypsin deficiency (ATD) is the most common genetic cause of liver injury in young children. Asymptomatic hepatitis is observed in most patients. However, the course of liver disease due to ATD is unpredictable, and some children develop liver cirrhosis. Liver transplantation (Ltx) dramatically improves their outcome and in some cases is required in the first years of life. The aim of the study was to evaluate the course of the disease in children with ATD treated with Ltx in a single center...
December 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27931086/liver-involvement-in-patients-with-pizz-emphysema-candidates-for-lung-transplantation
#16
Lise Morer, Laurence Choudat, Gaelle Dauriat, Francois Durand, Dominique Cazals-Hatem, Gabriel Thabut, Olivier Brugière, Yves Castier, Hervé Mal
Information about the prevalence and nature of liver disorders in adults with alpha1-antitrypsin deficiency is scarce. At our center, systematic liver biopsy screening is part of the evaluation before lung transplantation (LT) in the emphysema patients with the PiZZ phenotype. Our aim was to report our experience with this prospective screening. Clinical, liver function and imaging parameters as well as liver histology data were analyzed for 23 consecutive adult patients with PiZZ severe emphysema referred to our center for consideration of LT from 2006 to 2014...
December 8, 2016: American Journal of Transplantation
https://www.readbyqxmd.com/read/27927014/genetic-modification-of-the-lung-directed-toward-treatment-of-human-disease
#17
Dolan Sondhi, Katie M Stiles, Bishnu P De, Ronald G Crystal
Genetic modification therapy is a promising therapeutic strategy for many diseases of the lung intractable to other treatments. Lung gene therapy has been the subject of numerous preclinical animal experiments and human clinical trials, for targets including genetic diseases such as cystic fibrosis and α1-antitrypsin deficiency, complex disorders such as asthma, allergy, and lung cancer, infections such as respiratory syncytial virus (RSV) and Pseudomonas, as well as pulmonary arterial hypertension, transplant rejection, and lung injury...
January 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/27926963/-how-carl-bertil-laurell-and-sten-eriksson-detected-the-alpha-1-antitrypsin-deficiency-50-years-ago-and-what-then-came-a-somewhat-headstrong-and-personal-retrospection
#18
https://www.readbyqxmd.com/read/27916480/long-term-efficacy-and-safety-of-%C3%AE-1-proteinase-inhibitor-treatment-for-emphysema-caused-by-severe-%C3%AE-1-antitrypsin-deficiency-an-open-label-extension-trial-rapid-ole
#19
Noel G McElvaney, Jonathan Burdon, Mark Holmes, Allan Glanville, Peter A B Wark, Philip J Thompson, Paul Hernandez, Jan Chlumsky, Helmut Teschler, Joachim H Ficker, Niels Seersholm, Alan Altraja, Riitta Mäkitaro, Joanna Chorostowska-Wynimko, Marek Sanak, Paul I Stoicescu, Eeva Piitulainen, Oliver Vit, Marion Wencker, Michael A Tortorici, Michael Fries, Jonathan M Edelman, Kenneth R Chapman
BACKGROUND: Purified α1 proteinase inhibitor (A1PI) slowed emphysema progression in patients with severe α1 antitrypsin deficiency in a randomised controlled trial (RAPID-RCT), which was followed by an open-label extension trial (RAPID-OLE). The aim was to investigate the prolonged treatment effect of A1PI on the progression of emphysema as assessed by the loss of lung density in relation to RAPID-RCT. METHODS: Patients who had received either A1PI treatment (Zemaira or Respreeza; early-start group) or placebo (delayed-start group) in the RAPID-RCT trial were included in this 2-year open-label extension trial (RAPID-OLE)...
January 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/27916479/compelling-evidence-for-the-efficacy-of-%C3%AE-1-antitrypsin-augmentation-treatment-for-%C3%AE-1-antitrypsin-deficiency
#20
Ronald G Crystal
No abstract text is available yet for this article.
January 2017: Lancet Respiratory Medicine
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