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alpha-1 antitrypsin

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https://www.readbyqxmd.com/read/28108341/molecular-cloning-genomic-structure-polymorphism-analysis-and-recombinant-expression-of-a-%C3%AE-1-antitrypsin-like-gene-from-swamp-eel-monopterus-albus
#1
Wei Li, Quanhe Wang, Shaobin Li, Ao Jiang, Wenxiu Sun
Alpha-1-antitrypsin (AAT) is a highly polymorphic glycoprotein antiprotease, involved in the regulation of human immune response. Beyond some genomic characterization and a few protein characterizations, the function of teleost AAT remains uncertain. In this study we cloned an AAT-like gene from a swamp eel liver identifying four exons and three introns, and the full-length cDNA. The elucidated swamp eel AAT amino acid sequence showed high homology with known AATs from other teleosts. The swamp eel AAT was examined both in ten healthy tissues and in four bacterially-stimulated tissues resulting in up-regulation of swamp eel AAT at different times...
January 17, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28069642/alpha-1-antitrypsin-enhances-islet-engraftment-by-suppression-of-instant-blood-mediated-inflammatory-reaction
#2
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
#3
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
#4
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/28053854/identification-of-a-novel-alpha1-antitrypsin-variant
#5
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/28045767/autophagy-in-hepatocytes-in-infants-with-alpha-1-atd-and-different-liver-disease-outcomes-a-retrospective-analysis
#6
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/28005428/telomerase-and-the-genetics-of-emphysema-susceptibility-implications-for-pathogenesis-paradigms-and-patient-care
#7
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/28004973/beta-2-glycoprotein-1-and-alpha-1-antitrypsin-as-urinary-markers-of-renal-cancer-in-von-hippel-lindau-patients
#8
Giorgia Mandili, Agata Notarpietro, Amina Khadjavi, Marco Allasia, Antonino Battaglia, Barbara Lucatello, Bruno Frea, Francesco Turrini, Francesco Novelli, Giuliana Giribaldi, Paolo Destefanis
CONTEXT: Von Hippel-Lindau disease (VHLD) is a rare inherited neoplastic syndrome. Among all the VHLD-associated tumors, clear cell renal cell carcinoma (ccRCC) is the major cause of death. OBJECTIVE: The aim of this paper is the discovery of new non-invasive biomarker for the monitoring of VHLD patients. MATERIALS AND METHODS: We compared the urinary proteome of VHLD patients, ccRCC patients and healthy volunteers. RESULTS: Among all differentially expressed proteins, alpha-1-antitrypsin (A1AT) and APOH (beta-2-glycoprotein-1) are strongly over-abundant only in the urine of VHLD patients with a history of ccRCC...
December 22, 2016: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/27995906/acg-clinical-guideline-evaluation-of-abnormal-liver-chemistries
#9
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/27977553/the-association-between-fecal-biomarkers-of-environmental-enteropathy-and-rotavirus-vaccine-response-in-nicaraguan-infants
#10
Sylvia Becker-Dreps, Samuel Vilchez, Filemon Bucardo, Erica Twitchell, Wan Suk Choi, Michael G Hudgens, Johan Perez, Lijuan Yuan
BACKGROUND: Environmental enteropathy (EE) is a common intestinal condition among children living in low and middle income countries and is associated with diminished enteric immunity to gastrointestinal pathogens, and possibly, to oral vaccine antigens. The goal of this study was to examine associations between biomarkers of EE and immunogenicity to the pentavalent rotavirus vaccine (RV5). METHODS: Infants were recruited one day before their first RV5 immunization in León, Nicaragua, from public health rosters...
December 12, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27941389/factors-modulating-the-inflammatory-response-in-acute-gouty-arthritis
#11
Maartje C Cleophas, Tania O Crişan, Leo A B Joosten
PURPOSE OF REVIEW: Gout is a common debilitating form of arthritis and despite our extensive knowledge on the pathogenesis its prevalence is still rising quickly. In the current review, we provide a concise overview of recent discoveries in factors tuning the inflammatory response to soluble uric acid and monosodium urate crystals. RECENT FINDINGS: It appears that soluble uric acid has a much larger role to play than just being a risk factor for gout. It may have widespread consequences for systemic inflammation and the development of metabolic syndrome...
December 9, 2016: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27938510/bile-duct-ligation-induces-atz-globule-clearance-in-a-mouse-model-of-alpha-1-antitrypsin-deficiency
#12
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/27929717/patterns-of-chronic-inflammation-in-extensively-treated-patients-with-arachnoiditis-and-chronic-intractable-pain
#13
John A Bilello, Forest S Tennant
OBJECTIVE: To use biomarkers to gain insight into and gauge the residual (post-treatment) level of inflammation in two groups of intensively treated patients with severe chronic pain. METHODS: Three study groups were analyzed, and included: (i) patients (n = 90) with chronic intractable pain (CIP), (ii) patients (n = 26) with chronic pain and MRI-documented arachnoiditis (ARC) and (iii) normal subjects without a diagnosis of chronic pain (n = 86). We determined and compared the serum concentrations of Alpha-1 Antitrypsin (A1AT), Myeloperoxidase (MPO) and soluble Tumor Necrosis Factor receptor type 2 (sTNFR2) in each of the patient populations studied...
December 17, 2016: Postgraduate Medicine
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
#14
https://www.readbyqxmd.com/read/27898561/alpha-1-antitrypsin-deficiency-pathophysiologic-features-and-the-importance-of-screening
#15
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
#16
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
#17
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
#18
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...
February 2017: COPD
https://www.readbyqxmd.com/read/27819491/alpha1-antitrypsin-deficiency-increased-knowledge-and-diagnostic-testing-after-viewing-short-instructional-video
#19
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...
February 2017: COPD
https://www.readbyqxmd.com/read/27818805/hepatocellular-carcinoma-with-prominent-intracytoplasmic-inclusions-a-report-of-two-cases
#20
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
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