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alpha-1 antitrypsin

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https://www.readbyqxmd.com/read/28734272/glycosylation-patterns-of-selected-proteins-in-individual-serum-and-cerebrospinal-fluid-samples
#1
Isabella Karlsson, Lorena Ndreu, Alessandro Quaranta, Gunnar Thorsén
A method we previously developed has been applied to the determination of the glycosylation pattern of specific proteins in biological samples. Six proteins (alpha-1-antitrypsin, transferrin, haptoglobin, C1 inhibitor, alpha-1 acid glycoprotein, and immunoglobulin G) were studied in serum samples from five individuals and cerebrospinal fluid (CSF) samples from three individuals, to investigate the expected normal distribution of glycosylation patterns and to assess whether this methodology can be used to discriminate between samples from different individuals...
April 25, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28732839/exacerbations-and-duration-of-smoking-abstinence-are-associated-with-the-annual-loss-of-fev1-in-individuals-with-pizz-alpha-1-antitrypsin-deficiency
#2
Sebastian Fähndrich, Nikolas Bernhard, Philipp M Lepper, Claus Vogelmeier, Martina Seibert, Stefan Wagenpfeil, Robert Bals
BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that is associated with a higher risk of chronic obstructive pulmonary disease (COPD) and emphysema. The annual declines in lung function (FEV1) and transfer factor of the lung for carbon monoxide (TLCO) predict all-cause mortality. MATERIAL AND METHODS: We investigated the longitudinal follow-up data over 11 years (mean follow-up period of 4.89 years) from the German AATD registry and analyzed the relationship between annual loss of FEV1 and TLCO and sex, age, body mass index (BMI), nicotine consumption, occupational dust exposure, St...
August 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28715721/pushing-the-boundaries-in-liver-graft-utilisation-in-transplantation-case-report-of-a-donor-with-previous-bile-duct-injury-repair
#3
Asma Sultana, James J Powell, Gabriel C Oniscu
INTRODUCTION: Liver transplantation is a recognised treatment for extensive bile duct injuries with secondary biliary cirrhosis or recurring sepsis. However, there have been no reports of successful liver transplantation from a donor who sustained a previous bile duct injury. PRESENTATION OF CASE: Here we discuss the case of a liver transplant from a 51-year-old brain dead donor who had suffered a Strasberg E1 bile duct injury and had undergone a Roux-en-Y hepaticojejunostomy 24 years prior to donation...
June 29, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28712697/hepatic-steatosis-in-participants-in-a-program-of-low-dose-ct-screening-for-lung-cancer
#4
Xiangmeng Chen, Kunwei Li, Rowena Yip, Ponni Perumalswami, Andrea D Branch, Sara Lewis, David Del Bello, Betsy J Becker, David F Yankelevitz, Claudia I Henschke
OBJECTIVE: Determine the frequency of moderate-to-severe hepatic steatosis (HS) in asymptomatic participants in a low-dose CT (LDCT) screening program for lung cancer, to identify risk factors, and develop recommendations. METHODS: Baseline LDCT scans of the chest of 170 participants in an IRB-approved study between August 2011 and April 2016 were reviewed. Demographic variables, comorbidities, and liver function tests were documented. Hepatic and splenic attenuation values hounsfield unit (HU) were measured...
June 27, 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28705390/alpha-1-antitrypsin-deficiency-associated-with-null-alleles
#5
Juan Marco Figueira Gonçalves, Francisco Martínez Bugallo, Ignacio García-Talavera, Jesús Rodríguez González
No abstract text is available yet for this article.
July 10, 2017: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/28668972/a-new-serpina-1-missense-mutation-associated-with-alpha-1-antitrypsin-deficiency-and-bronchiectasis
#6
G E Carpagnano, R Santacroce, G A Palmiotti, A Leccese, E Giuffreda, M Margaglione, M P Foschino Barbaro, S Aliberti, D Lacedonia
Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum and predisposes to emphysema. Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states. We report a case of a 52-year-old woman with bronchiectasis without other potential causes other than an electrophoresis that showed a decrease of alpha-1 globin band and AAT levels below the normal value (78 mg/dl; v...
July 1, 2017: Lung
https://www.readbyqxmd.com/read/28664384/a-case-of-protein-losing-enteropathy-caused-by-sclerosing-mesenteritis-diagnosed-with-capsule-endoscopy-and-double-balloon-endoscopy
#7
Yasushi Saito, Katsushi Hiramatsu, Takuto Nosaka, Yoshihiko Ozaki, Kazuto Takahashi, Tatsushi Naito, Kazuya Ofuji, Hidetaka Matsuda, Masahiro Ohtani, Tomoyuki Nemoto, Yoshiaki Imamura, Yasunari Nakamoto
A 75-year-old man presented with abdominal distension, hypoproteinemia, ascites and a 35-mm mass in the small bowel mesentery. Laparotomy was performed, and he was diagnosed with sclerosing mesenteritis. His clinical condition improved, with computed tomography (CT) showing tumor shrinkage and decreasing ascites after administration of prednisolone; however, on drug withdrawal, abdominal fullness recurred and CT revealed an enlarging tumor and increasing ascites. Capsule endoscopy (CE) and double-balloon enteroscopy (DBE) were performed to further investigate hypoalbuminemia, which revealed white villi, white nodules, white debris, and mucosal edema in the jejunum...
August 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28662542/quantitative-disease-progression-model-of-alpha-1-proteinase-inhibitor-therapy-on-ct-lung-density-in-patients-with-alpha-1-antitrypsin-deficiency
#8
M A Tortorici, J A Rogers, O Vit, M Bexon, R A Sandhaus, J Burdon, J Chorostowska-Wynimko, P Thompson, J Stocks, N G McElvaney, K R Chapman, J M Edelman
AIMS: Early-onset emphysema attributed to alpha-1 antitrypsin deficiency (AATD) is frequently overlooked and undertreated. RAPID-RCT/RAPID-OLE, the largest clinical trials of purified human alpha-1 proteinase inhibitor (A1 -PI; 60 mg/kg/wk) therapy completed to date, demonstrated for the first time that A1 -PI is clinically effective in slowing lung tissue loss in AATD. A post-hoc pharmacometric analysis was undertaken to further explore dose, exposure and response. METHODS: A disease progression model was constructed, utilizing observed A1 -PI exposure and lung density decline rates (measured by computed tomography) from RAPID-RCT/RAPID-OLE, to predict effects of population variability and higher doses on A1 -PI exposure and clinical response...
June 29, 2017: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28652721/alpha-1-antitrypsin-pi-sz-genotype-estimated-prevalence-and-number-of-sz-subjects-worldwide
#9
Ignacio Blanco, Patricia Bueno, Isidro Diego, Sergio Pérez-Holanda, Beatriz Lara, Francisco Casas-Maldonado, Cristina Esquinas, Marc Miravitlles
The alpha-1 antitrypsin (AAT) haplotype Pi*S, when inherited along with the Pi*Z haplotype to form a Pi*SZ genotype, can be associated with pulmonary emphysema in regular smokers, and less frequently with liver disease, panniculitis, and systemic vasculitis in a small percentage of people, but this connection is less well established. Since the detection of cases can allow the application of preventive measures in patients and relatives with this congenital disorder, the objective of this study was to update the prevalence of the SZ genotype to achieve accurate estimates of the number of Pi*SZ subjects worldwide, based on studies performed according to the following criteria: 1) samples representative of the general population, 2) AAT phenotyping characterized by adequate methods, and 3) selection of studies with reliable results assessed with a coefficient of variation calculated from the sample size and 95% confidence intervals...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28648594/alpha-1-antitrypsin-deficiency-associated-to-the-variant-pi-mpalermo-analysis-of-8-cases
#10
Juan Marco Figueira Gonçalves, Francisco Martínez Bugallo, Orlando Mesa Medina
No abstract text is available yet for this article.
June 22, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28645458/pulmonary-3-he-magnetic-resonance-imaging-biomarkers-of-regional-airspace-enlargement-in-alpha-1-antitrypsin-deficiency
#11
Eric Lessard, Heather M Young, Anurag Bhalla, Damien Pike, Khadija Sheikh, David G McCormack, Alexei Ouriadov, Grace Parraga
RATIONALE AND OBJECTIVES: Thoracic x-ray computed tomography (CT) and hyperpolarized (3)He magnetic resonance imaging (MRI) provide quantitative measurements of airspace enlargement in patients with emphysema. For patients with panlobular emphysema due to alpha-1 antitrypsin deficiency (AATD), sensitive biomarkers of disease progression and response to therapy have been difficult to develop and exploit, especially those biomarkers that correlate with outcomes like quality of life. Here, our objective was to generate and compare CT and diffusion-weighted inhaled-gas MRI measurements of emphysema including apparent diffusion coefficient (ADC) and MRI-derived mean linear intercept (Lm) in patients with AATD, chronic obstructive pulmonary disease (COPD) ex-smokers, and elderly never-smokers...
June 20, 2017: Academic Radiology
https://www.readbyqxmd.com/read/28627459/peripheral-blood-gene-expression-of-acute-phase-proteins-in-people-with-first-episode-psychosis
#12
Jie Yin Yee, Milawaty Nurjono, Wai Yee Ng, Stephanie Ruth Teo, Tih-Shih Lee, Jimmy Lee
BACKGROUND: There is a growing interest in the association between schizophrenia and the activation of inflammatory system with signs of acute phase (AP) response. Majority of such studies had focused on C-reactive protein (CRP). The aims of the present study were (i) to examine the gene expression profiles of other acute phase proteins (APP), namely haptoglobin (HP), alpha-1 antitrypsin (A1T), and alpha-2 macroglobulin (A2M) in patients with first episode psychosis (FEP) over a period of three months and (ii) to explore the association between APP levels and severity of symptoms...
June 13, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28625042/selenium-status-and-fungi-in-the-protein-losing-enteropathy-of-persistent-diarrhea
#13
Pramita G Dwipoerwantoro, Widjaja Lukito, Diana Aulia, Josiane Arnaud, Anne-Marie Roussel
BACKGROUND AND OBJECTIVES: A vicious cycle of infection, malabsorption, and malnutrition has been implicated in the perpetuation of diarrheal disease. This study examined whether persistent diarrhea is associated with changes in selenium status and stool alpha-1 antitrypsin (AAT) concentration. METHODS AND STUDY DESIGN: This cross-sectional study included 30 children aged 1-12 years with persistent diarrhea who were hospitalized in Cipto Mangunkusumo Hospital and Fatmawati Hospital, Jakarta, and 30 apparently healthy children who were matched by age and sex and lived in a rural area of Jakarta...
June 2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28618946/a-comparative-proteomic-analysis-of-bile-for-biomarkers-of-cholangiocarcinoma
#14
Marut Laohaviroj, Jeremy Potriquet, Xinying Jia, Sutas Suttiprapa, Yaovalux Chamgramol, Chawalit Pairojkul, Paiboon Sithithaworn, Jason Mulvenna, Banchob Sripa
Cholangiocarcinoma is a primary malignant tumor of the bile duct epithelium. Cholangiocarcinoma is usually detected at an advanced stage when successful treatment is no longer possible. As the tumor originates from the bile duct epithelium, bile is an ideal source of tumor biomarkers for cholangiocarcinoma. In this study, we used a quantitative proteomics approach to identify potential tumor-associated proteins in the bile fluid of six cholangiocarcinoma patients. Three different gross-appearance tumor types were used in the analysis: mass-forming type ( n = 2), periductal infiltrating type ( n = 2), and intraductal growth type ( n = 2)...
June 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28617828/erad-defects-and-the-hfe-h63d-variant-are-associated-with-increased-risk-of-liver-damages-in-alpha-1-antitrypsin-deficiency
#15
Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh
BACKGROUND: The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in Z-1AT patients, it seems that liver disease progression is linked to still unknown genetic factors. METHODS: We used an innovative approach combining yeast genetic screens with next generation exome sequencing to identify and functionally characterize the genes involved in 1ATD associated liver disease...
2017: PloS One
https://www.readbyqxmd.com/read/28594820/serum-proteins-mediate-depression-s-association-with-dementia
#16
Donald R Royall, Safa Al-Rubaye, Ram Bishnoi, Raymond F Palmer
The latent variable "δ" (for "dementia") uniquely explains dementia severity. Depressive symptoms are independent predictors of δ. We explored 115 serum proteins as potential causal mediators of the effect of depressive symptoms on δ in a large, ethnically diverse, longitudinal cohort. All models were adjusted for age, apolipoprotein E, education, ethnicity, gender, hemoglobin A1c, and homocysteine, and replicated in randomly selected 50% subsets. Alpha1-antitrypsin (A1AT), FAS, Heparin-binding EGF-like Growth Factor (HB-EGF), Insulin-like Growth Factor-1 (IGF-1), Luteinizing Hormone (LH), Macrophage Inflammatory Protein type 1 alpha (MIP-1α), Resitin, S100b, Tissue Inhibitor of Metalloproteinase type 1 (TIMP-1), and Vascular Cell Adhesion Molecule type 1 (VCAM-1) each were partial mediators of depression's association with δ...
2017: PloS One
https://www.readbyqxmd.com/read/28592917/persistent-unresolved-inflammation-in-the-mecp2-308-female-mutated-mouse-model-of-rett-syndrome
#17
Alessio Cortelazzo, Claudio De Felice, Bianca De Filippis, Laura Ricceri, Giovanni Laviola, Silvia Leoncini, Cinzia Signorini, Monica Pescaglini, Roberto Guerranti, Anna Maria Timperio, Lello Zolla, Lucia Ciccoli, Joussef Hayek
Rett syndrome (RTT) is a rare neurodevelopmental disorder usually caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). Several Mecp2 mutant mouse lines have been developed recapitulating part of the clinical features. In particular, Mecp2-308 female heterozygous mice, bearing a truncating mutation, are a validated model of the disease. While recent data suggest a role for inflammation in RTT, little information on the inflammatory status in murine models of the disease is available...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28564723/emerging-concepts-and-human-trials-in-alpha-1-antitrypsin-deficiency-liver-disease
#18
Jeffrey H Teckman
No abstract text is available yet for this article.
May 2017: Seminars in Liver Disease
https://www.readbyqxmd.com/read/28559523/the-first-report-of-two-cases-of-fatal-liver-injury-due-to-anti-tuberculosis-drugs-in-the-presence-of-alpha-1-antitrypsin-deficiency
#19
Shahram Habibzadeh, Jafar Mohammad Shahi, Hassan Ghobadi, Nasrollah Maleki
Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation. Here, we report for the first time, two patients of fatal liver injury due to anti-TB drugs in the presence of alpha-1 antitrypsin deficiency. Based on the triad of rapid loss in hepatocyte function, the onset of hepatic encephalopathy, and absence of a prior history of liver disease, the diagnosis of acute liver failure was established...
April 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28558837/long-term-clinical-outcomes-following-treatment-with-alpha-1-proteinase-inhibitor-for-copd-associated-with-alpha-1-antitrypsin-deficiency-a-look-at-the-evidence
#20
REVIEW
Franck F Rahaghi, Marc Miravitlles
Alpha-1 antitrypsin deficiency (AATD) is a common hereditary disorder caused by mutations in the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT; also known as alpha 1-proteinase inhibitor, A1-PI). An important function of A1-PI in the lung is to inhibit neutrophil elastase, one of various proteolytic enzymes released by activated neutrophils during inflammation. Absence or deficiency of A1-PI leads to an imbalance between elastase and anti-elastase activity, which results in progressive, irreversible destruction of lung tissue, and ultimately the development of chronic obstructive pulmonary disease with early-onset emphysema...
May 30, 2017: Respiratory Research
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