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Alpha 1 antitrypsin deficiency

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https://www.readbyqxmd.com/read/30286568/therapeutic-potential-of-alpha-1-antitrypsin-in-human-disease
#1
Minsun Kim, Qing Cai, Youngman Oh
Alpha-1 antitrypsin (AAT), an alpha globulin glycoprotein, is a member of the serine protease inhibitor (serpin) superfamily. The clinical significance of AAT is highlighted by AAT deficiency. Genetic deficiency of AAT can present as several neutrophilic diseases associated with emphysema, liver cirrhosis, panniculitis, and systemic vasculitis. Recently, animal and human studies have shown that AAT can control inflammatory, immunological, and tissue-protective responses. In addition, AAT treatment can prevent overt hyperglycemia, increase insulin secretion, and reduce cytokine-mediated apoptosis of pancreatic β-cells in diabetes...
September 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/30266160/cirrhosis-and-portal-hypertension-in-the-pediatric-population
#2
REVIEW
Catherine A Chapin, Lee M Bass
Cirrhosis is a complex process in which the architecture of the liver is replaced by structurally abnormal nodules due to cirrhosis. Cirrhosis frequently leads to the development of portal hypertension. In children, portal hypertension may be caused by a wide range of etiologies, including extrahepatic portal vein obstruction, biliary atresia, alpha 1 antitrypsin deficiency, and autoimmune hepatitis. Gastroesophageal varices and ascites are two of the complications of portal hypertension likely to cause morbidity and mortality...
November 2018: Clinics in Liver Disease
https://www.readbyqxmd.com/read/30266154/alpha-1-antitrypsin-deficiency-liver-disease
#3
REVIEW
Dhiren Patel, Jeffrey H Teckman
In homozygous ZZ alpha-1-antitrypsin (AAT) deficiency, the liver synthesizes large quantities of AAT mutant Z, which folds improperly during biogenesis and is retained within the hepatocytes and directed into intracellular proteolysis pathways. These intracellular polymers trigger an injury cascade, which can lead to liver injury. This is highly variable and not all patients develop liver disease. Although not fully described, there is likely a strong influence of genetic and environmental modifiers of the injury cascade and of the fibrotic response...
November 2018: Clinics in Liver Disease
https://www.readbyqxmd.com/read/30261992/genotype-is-associated-with-smoking-and-other-key-health-behaviors-among-individuals-with-alpha-1-antitrypsin-deficiency-associated-lung-disease
#4
Kristen E Holm, David M Mannino, Radmila Choate, Robert A Sandhaus
OBJECTIVE: To examine the association of genotype with smoking and other key health behaviors among individuals with alpha-1 antitrypsin deficiency (AATD) associated lung disease. METHODS: Self-reported data were analyzed from 3506 individuals with AATD-associated lung disease. All data were collected upon enrollment in a disease management program designed for individuals who have been prescribed augmentation therapy. Multivariate logistic regression was utilized to examine the extent to which genotype was associated with smoking and other key health behaviors (i...
October 2018: Respiratory Medicine
https://www.readbyqxmd.com/read/30210828/lung-volume-reduction-surgery-beyond-the-nett-selection-criteria
#5
REVIEW
Claudio Caviezel, Didier Schneiter, Isabelle Opitz, Walter Weder
Lung volume reduction surgery (LVRS) for symptomatic patients with advanced emphysema was proven to be successful in a large randomized multi-center trial (NETT) and in several smaller randomized single center trials. This evidence primarily concerns patients with heterogeneous, upper-lobe predominant emphysema and low exercise tolerance within certain selection criteria regarding lung function values. As the most important effect of LVRS is generated by reducing the hyperinflation, even patients with homogeneous emphysema morphology profit from the procedure...
August 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/30194601/gene-delivery-of-alpha-1-antitrypsin-using-recombinant-adeno-associated-virus-raav
#6
Sihong Song, Yuanqing Lu
The challenge for alpha-1-antitrypsin (AAT also known as SERPINA1) gene therapy is to achieve long term and high levels of AAT production. Recombinant adeno-associated virus (rAAV) vector has several advantages for AAT gene delivery including no viral genes in the vector, no requirement of integration for long-term transgene expression, low immunogenicity, and wide tropism. AAV-mediated AAT gene therapy has been developed and tested in animal models for AAT deficiency, type 1 diabetes, rheumatoid arthritis, and osteoporosis...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/30194596/cellular-models-for-the-serpinopathies
#7
Annamaria Fra, Emanuela D'Acunto, Mattia Laffranchi, Elena Miranda
Our current knowledge about the cellular mechanisms underlying serpin-related disorders, the serpinopathies, is predominantly based on studies in cell culture models of disease, particularly for alpha-1 antitrypsin (AAT, SERPINA1) deficiency causing emphysema and the familial encephalopathy with neuroserpin (NS, SERPINI1) inclusion bodies (FENIB). FENIB, a neurodegenerative dementia, is caused by polymerization of NS (Miranda and Lomas, Cell Mol Life Sci 63:709-722, 2006; Roussel BD et al., Epileptic Disor 18:103-110, 2016), while AAT deficiency presents as a result of several divergent mutations in the AAT gene that cause lack of protein synthesis or complete intracellular degradation (null variants) or polymer formation (polymerogenic variants) (Lomas et al...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/30173411/alpha-1-antitrypsin-deficiency-in-a-french-general-hospital-fortuitous-detection-rather-than-efficient-screening
#8
Olivier Moquet, Hakim Kherouf, Geoffroy de Faverges, Pierre Dumont, Evelyne Bourgerette, Tu N'Guyen
INTRODUCTION: We studied the characteristics of the screening procedure for alpha-1 antitrypsin at Nevers Hospital (France), together with the performance of serum protein gel electrophoresis for the fortuitous detection of patients with deficiency. MATERIAL AND METHODS: We carried out a retrospective study of requests for alpha-1 antitrypsin determination referred to the laboratory during 3 years. We compared these requests with the numbers of patients seen at the hospital and requiring screening according to international recommendations...
September 2, 2018: Advances in Respiratory Medicine
https://www.readbyqxmd.com/read/30160349/hiv-infection-is-independently-associated-with-a-higher-concentration-of-alpha-1-antitrypsin
#9
R F Thudium, J Lundgren, T Benfield, B G Nordestgaard, Á H Borges, J Gerstoft, S D Nielsen, A Ronit
OBJECTIVES: Alpha-1 antitrypsin (AAT) deficiency is associated with an increased risk of chronic obstructive pulmonary disease and has been related to CD4 T-cell count decline in people living with HIV (PLWH). We determined whether HIV status is associated with AAT concentrations and assessed associations between AAT concentration, pulmonary function and immunological status. METHODS: Alpha-1 antitrypsin was measured and spirometry performed in 1011 PLWH from the Copenhagen Comorbidity in HIV Infection (COCOMO) study and in 11 962 age- and sex-matched uninfected controls...
August 30, 2018: HIV Medicine
https://www.readbyqxmd.com/read/30138687/clinical-and-histologic-features-of-adults-with-alpha-1-antitrypsin-deficiency-in-a-non-cirrhotic-cohort
#10
Virginia C Clark, George Marek, Chen Liu, Amy Collinsworth, Jonathan Shuster, Tracie Kurtz, Joanna Nolte, Mark Brantly
BACKGROUND & AIMS: Alpha-1 antitrypsin deficiency (AATD) is an uncommonly recognized cause of liver disease in adults, with descriptions of its natural history limited to case series and patient-reported data from disease registries. Liver pathology is limited to selected patients or unavailable. Therefore, we aimed to determine the prevalence and severity of liver fibrosis in an adult AATD population who were not known to have cirrhosis, while defining risk factors for fibrosis and testing non-invasive markers of disease...
August 21, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/30103740/real-world-evaluation-of-a-novel-lateral-flow-assay-alphakit%C3%A2-quickscreen-for-the-detection-of-alpha-1-antitrypsin-deficiency
#11
Timm Greulich, Francisco Rodríguez-Frias, Irene Belmonte, Andreas Klemmer, Claus F Vogelmeier, Marc Miravitlles
BACKGROUND: Alpha-1-Antitrypsin (AAT) deficiency (AATD) is a hereditary disorder that manifests primarily as pulmonary emphysema and liver cirrhosis. The clinically most relevant mutation causing AATD is a single nucleotide polymorphism Glu342Lys (Z-mutation). Despite the recommendation to test every COPD patient, the condition remains severely underdiagnosed with a delay of several years between first symptoms and diagnosis. The Grifols' AlphaKit® QuickScreen is a novel qualitative point-of-care (POC) in vitro screening test developed for the detection of the Z AAT protein in capillary whole blood...
August 13, 2018: Respiratory Research
https://www.readbyqxmd.com/read/30096037/alpha-1-antitrypsin-deficiency-as-a-candidate-for-gene-editing
#12
Terence R Flotte
No abstract text is available yet for this article.
August 2018: Human Gene Therapy
https://www.readbyqxmd.com/read/30089330/-longterm-homecare-augmentation-program-in-alpha-1-antitrypsin-deficient-patients
#13
A Wilke, H Semper, C Gross, C Grohé
BACKGROUND: Augmentation with human alpha-1 proteinase inhibitor is the only specific treatment for Alpha-1-Antitrypsin Deficiency (AATD), a rare genetic disease with symptoms of progressive COPD. OBJECTIVES: A prospective long-term exploration of outcomes during the "Alpha-1-Mobile" home care AAT augmentation program in seven advanced-stage patients. METHODS: Patients received weekly i. v. AAT augmentation and COPD therapy. Symptoms, lung function, health status, quality-of-life aspects, and safety were documented continuously...
August 2018: Pneumologie
https://www.readbyqxmd.com/read/30078886/cutaneous-manifestation-of-alpha-1-antitrypsin-deficiency-a-case-of-panniculitis
#14
Sofia Lopes, Carla Damas, Filomena Azevedo, Alberto Mota
No abstract text is available yet for this article.
July 2018: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/30067827/norudca-promotes-degradation-of-%C3%AE-1-antitrypsin-mutant-z-protein-by-inducing-autophagy-through-ampk-ulk1-pathway
#15
Youcai Tang, Keith S Blomenkamp, Peter Fickert, Michael Trauner, Jeffrey H Teckman
Alpha-1 Antitrypsin (α1AT) Deficiency is a genetic disease in which accumulation of α1AT mutant Z (α1ATZ) protein in the ER of hepatocytes causes chronic liver injury, liver fibrosis, and hepatocellular carcinoma. No effective medical therapy is currently available for the disease. We previously found that norUDCA improves the α1AT deficiency associated liver disease by promoting autophagic degradation of α1ATZ protein in liver in a mouse model of the disease. The current study unravels the novel underlying cellular mechanism by which norUDCA modulates autophagy...
2018: PloS One
https://www.readbyqxmd.com/read/30066494/hepatopulmonary-syndrome-in-children-a-20-year-review-of-presenting-symptoms-clinical-progression-and-transplant-outcome
#16
Suz Warner, Patrick J McKiernan, Jane Hartley, Evelyn Ong, Indra D van Mourik, Girish Gupte, Mona Abdel-Hady, Paolo Muiesan, Thamera Perera, Darius Mirza, Khalid Sharif, Deirdre A Kelly, Susan V Beath
Hepatopulmonary syndrome (HPS) in stable patients with cirrhosis can easily be overlooked. We report on the presenting symptoms, disease progression, and outcomes after liver transplantation (LT) in children with HPS. Twenty patients were diagnosed with HPS between 1996 and 2016. The etiologies were as follows: biliary atresia (n = 9); alpha-1-antitrypsin deficiency (n = 2); cryptogenic liver disease (n = 3); and others (n = 6). HPS presentations were as follows; dyspnea (n = 17) and pneumonia (n = 3). For diagnostic confirmation, the following techniques were used: technetium-99m-labeled macroaggregated albumin lung perfusion scan (n = 13) or contrast echocardiogram (n = 7)...
September 2018: Liver Transplantation
https://www.readbyqxmd.com/read/30063078/bone-density-in-children-with-chronic-liver-disease-correlates-with-growth-and-cholestasis
#17
Kathleen M Loomes, Cathie Spino, Nathan P Goodrich, Thomas N Hangartner, Amanda E Marker, James E Heubi, Binita M Kamath, Benjamin L Shneider, Philip Rosenthal, Paula M Hertel, Saul J Karpen, Jean P Molleston, Karen F Murray, Kathleen B Schwarz, Robert H Squires, Jeffrey Teckman, Yumirle P Turmelle, Estella M Alonso, Averell H Sherker, John C Magee, Ronald J Sokol
Osteopenia and bone fractures (fx) are significant causes of morbidity in children with cholestatic liver disease. Dual-energy X-ray absorptiometry (DXA) analysis was performed in children with intrahepatic cholestatic diseases who were enrolled in the Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC) in the Childhood Liver Disease Research Network (ChiLDReN). DXA was performed on participants age > 5 years (with native liver) diagnosed with bile acid synthetic disorder (BASD), alpha-1 antitrypsin deficiency (A1AT), chronic intrahepatic cholestasis (CIC), and Alagille syndrome (ALGS)...
July 31, 2018: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/30060175/whole-exome-sequencing-analysis-in-severe-chronic-obstructive-pulmonary-disease
#18
Dandi Qiao, Asher Ameli, Dmitry Prokopenko, Han Chen, Alvin T Kho, Margaret M Parker, Jarrett Morrow, Brian D Hobbs, Yanhong Liu, Terri H Beaty, James D Crapo, Kathleen C Barnes, Deborah A Nickerson, Michael Bamshad, Craig P Hersh, David A Lomas, Alvar Agusti, Barry J Make, Peter M A Calverley, Claudio F Donner, Emiel F Wouters, Jørgen Vestbo, Peter D Paré, Robert D Levy, Stephen I Rennard, Ruth Tal-Singer, Margaret R Spitz, Amitabh Sharma, Ingo Ruczinski, Christoph Lange, Edwin K Silverman, Michael H Cho
Chronic obstructive pulmonary disease (COPD), one of the leading causes of death worldwide, is substantially influenced by genetic factors. Alpha-1 antitrypsin deficiency demonstrates that rare coding variants of large effect can influence COPD susceptibility. To identify additional rare coding variants in patients with severe COPD, we conducted whole exome sequencing analysis in 2,543 subjects from two family-based studies (Boston Early-Onset COPD Study and International COPD Genetics Network) and one case-control study (COPDGene)...
July 27, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30030503/nutrient-intake-and-environmental-enteric-dysfunction-among-nepalese-children-9-24-months-old-the-mal-ed-birth-cohort-study
#19
Marianne S Morseth, Tor A Strand, Liv Elin Torheim, Ram K Chandyo, Manjeswori Ulak, Sanjaya K Shrestha, Binob Shrestha, Sigrun Henjum
BACKGROUND: Nutrient deficiencies limit the growth and turnover of intestinal mucosa, but studies assessing whether specific nutrients protect against or improve environmental enteric dysfunction (EED) are scarce. We aimed to investigate associations between nutrient intake and EED assessed by lactulose:mannitol (L:M) ratio, anti-1-antitrypsin, myeloperoxidase (MPO), and neopterin (NEO) among children 9-24 months in Bhaktapur, Nepal. METHODS: Among 231 included children, nutrient intake was assessed monthly by 24 h recalls, and 3-month usual intake was estimated using Multiple Source Method...
July 20, 2018: Pediatric Research
https://www.readbyqxmd.com/read/30029692/health-status-decline-in-%C3%AE-1-antitrypsin-deficiency-a-feasible-outcome-for-disease-modifying-therapies
#20
Robert A Stockley, Ross G Edgar, Sian Starkey, Alice M Turner
BACKGROUND: Trials of disease modifying therapies in Chronic Obstructive Pulmonary Disease (COPD) provide challenges for detecting physiological and patient centred outcomes. The purpose of the current study was to monitor decline in health status in Alpha-1 antitrypsin deficiency (AATD) and determine its' relationship to conventional physiology. METHODS: Patients recruited to the UK-AATD database with a median follow up of 7 years (IQR 5-10) were studied to determine annual change in St George's Respiratory Questionnaire (SGRQ), FEV1 , gas transfer and their feasibility of use in future trials...
July 20, 2018: Respiratory Research
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