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alpha-1 antitrypsin

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https://www.readbyqxmd.com/read/28332697/alpha-1-antitrypsin-inhibits-rankl-induced-osteoclast-formation-and-functions
#1
Mohammad Ahsanul Akbar, David Nardo, Mong-Jen Chen, Ahmed S Elshikha, Rubina Ahamed, Eslam M Elsayed, Claire Bigot, Lexie Shannon Holliday, Sihong Song
Osteoporosis is a global public health problem affecting more than 200 million people worldwide. We previously showed that treatment with alpha-1 antitrypsin (AAT), a multifunctional protein with anti-inflammatory properties, mitigated bone loss in an ovariectomized mouse model. However, the underlying mechanisms of the protective effect of AAT on bone tissue are largely unknown. In this study, we investigated the effect of AAT on osteoclast formation and function in vitro. Our results showed that AAT dose-dependently inhibited the formation of RANKL (receptor activator of nuclear factor κB ligand) induced osteoclasts derived from mouse bone marrow macrophages/monocyte (BMM) lineage cells and the murine macrophage cell line, RAW 264...
March 21, 2017: Molecular Medicine
https://www.readbyqxmd.com/read/28331304/does-urinary-peptide-content-differ-between-copd-patients-with-and-without-inherited-alpha-1-antitrypsin-deficiency
#2
Alfonso Carleo, Joanna Chorostowska-Wynimko, Thomas Koeck, Harald Mischak, Małgorzata Czajkowska-Malinowska, Adriana Rozy, Tobias Welte, Sabina Janciauskiene
Differentiating between chronic obstructive pulmonary disease (COPD) patients with normal (PiMM) or deficient (PiZZ) genetic variants of alpha-1 antitrypsin (A1AT) is important not only for understanding the pathobiology of disease progression but also for improving personalized therapies. This pilot study aimed to investigate whether urinary peptides reflect the A1AT-related phenotypes of COPD. Urine samples from 19 clinically stable COPD cases (7 PiMM and 12 PiZZ A1AT) were analyzed by capillary electrophoresis coupled to mass spectrometry...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28328804/liver-function-in-alpha-1-antitrypsin-deficient-individuals-at-37-to-40-years-of-age
#3
Behrouz Mostafavi, Sandra Diaz, Hanan A Tanash, Eeva Piitulainen
Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is a risk factor for liver disease, but the prevalence of liver cirrhosis and hepatocellular cancer in PiZZ adults is unknown. The risk of liver disease in adults with moderate AAT deficiency (PiSZ) is also unknown. A cohort of 127 PiZZ, 2 PiZnull, 54 PiSZ, and 1 PiSnull individuals were identified by the Swedish national neonatal AAT screening program between 1972 and 1974, when all 200,000 newborn infants in Sweden were screened for AAT deficiency. The cohort has been followed up since birth...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28326955/a-challenging-case-of-severe-infantile-cholestasis-in-alpha-1-antitrypsin-deficiency
#4
Zahida Khan, Veena L Venkat, Kyle A Soltys, Donna B Stolz, Sarangarajan Ranganathan
Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. Alpha-1 antitrypsin deficiency is the most common genetic cause of pediatric liver disease and transplantation, and it must be considered when evaluating cholestatic infants. Here, we present an unusual case of alpha-1 antitrypsin deficiency with severe infantile cholestasis and rapid decompensation in the first 4 months of life, where in-depth but timely diagnosis was crucial for the appropriate intervention to take place...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28319300/children-s-mouthing-of-soil-contaminated-objects-is-associated-with-environmental-enteropathy
#5
Tomohiko Morita, Jamie Perin, Lauren Oldja, Shwapon Biswas, R Bradley Sack, Shahnawaz Ahmed, Rashidul Haque, Nurul Amin Bhuiyan, Tahmina Parvin, Sazzadul Islam Bhuyian, Mahmuda Akter, Kaisar A Talukder, Shahnaij Mohammad, Abu G Faruque, Christine Marie George
OBJECTIVE: To investigate the relationship between children's mouthing behaviors, diarrhea, and environmental enteropathy. METHODS: Prospective cohort study of 216 children ≤ 30 months of age in rural Bangladesh. Mouthing contacts with soil and food and objects with visible soil was measured by five-hour structured observation. Stool was analyzed for four fecal markers of intestinal inflammation: alpha-1-antitrypsin, myeloperoxidase, neopterin, and calprotectin...
March 20, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28306356/an-epidemiological-overview-of-chronic-obstructive-pulmonary-disease-what-can-real-life-data-tell-us-about-disease-management
#6
Joan B Soriano
Chronic obstructive pulmonary disease (COPD) is a common condition, associated with increasing age and smoking exposure. COPD is a leading cause of morbidity, mortality and health care expenditure worldwide; yet, only 10-15% of all cases are identified medically. Alpha-1-antitrypsin deficiency (AATD) is responsible for about 1% of COPD cases but is also largely under-recognised, leading to diagnostic delay and missed treatment opportunities in patients who remain undetected. New evidence has recently highlighted the extent of overlap between COPD and bronchiectasis and the implications of comorbidity on clinical course and mortality...
March 15, 2017: COPD
https://www.readbyqxmd.com/read/28306355/alpha-1-antitrypsin-deficiency-disease-management-and-learning-from-studies
#7
Timm Greulich
Alpha-1-antitrypsin deficiency (AATD) is one of the most frequent genetic causes of liver and lung diseases. Despite its known association with chronic obstructive pulmonary disease (COPD), AATD is largely unrecognised and underdiagnosed. Cases of AATD exist within every COPD or spirometry population but must be actively investigated. AATD is a laboratory diagnosis that must be confirmed by a blood test. A number of clinical 'clues' can raise suspicion of AATD, potentially facilitating earlier diagnosis and initiation of appropriate treatment...
March 15, 2017: COPD
https://www.readbyqxmd.com/read/28301499/svip-regulates-z-variant-alpha-1-antitrypsin-retro-translocation-by-inhibiting-ubiquitin-ligase-gp78
#8
Nazli Khodayari, Rejean Liqun Wang, George Marek, Karina Krotova, Mariana Kirst, Chen Liu, Farshid Rouhani, Mark Brantly
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder characterized by early-onset emphysema and liver disease. The most common disease-causing mutation is a single amino acid substitution (Glu/Lys) at amino acid 342 of the mature protein, resulting in disruption of the 290-342 salt bridge (an electrophoretic abnormality defining the mutation [Z allele, or ZAAT]), protein misfolding, polymerization, and accumulation in the endoplasmic reticulum of hepatocytes and monocytes. The Z allele causes a toxic gain of function, and the E3 ubiquitin ligase gp78 promotes degradation and increased solubility of endogenous ZAAT...
2017: PloS One
https://www.readbyqxmd.com/read/28291659/identification-of-carbamylated-alpha-1-anti-trypsin-a1at-as-an-antigenic-target-of-anti-carp-antibodies-in-patients-with-rheumatoid-arthritis
#9
Marije K Verheul, Alvin Yee, Andrea Seaman, George M Janssen, Peter A van Veelen, Jan W Drijfhout, Rene E M Toes, Michael Mahler, Leendert A Trouw
In 2011 a novel autoantibody system, anti-carbamylated protein (anti-CarP) antibodies, was described in rheumatoid arthritis (RA) patients. Anti-CarP antibody positivity associates with a more severe disease course, is observed years before disease onset, and may predict the development of RA in arthralgia patients. Although many clinical observations have been carried out, information on the antigenic targets of anti-CarP antibodies is limited. Most studies on anti-CarP antibodies utilize an ELISA-based assay with carbamylated fetal calf serum (Ca-FCS) as antigen, a complex mixture of proteins...
March 10, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28284783/the-allergist-s-role-in-detection-of-severe-alpha-1-antitrypsin-deficiency
#10
Theodore Kelbel, Darren Morris, Deirdre Walker, Maria Paula Henao, Timothy Craig
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) frequently presents as difficult to manage asthma or asthma with fixed obstruction and is well documented as being underdiagnosed in the population. OBJECTIVE: This study aimed to better describe allergists'/immunologists' involvement in the care of patients with AATD and whether they currently contribute to the underdiagnosis by lack of screening for the condition. METHODS: Using the Research Electronic Data Capture tool, we submitted a questionnaire to 500 patients with severe AATD (ZZ, SZ, ZNull, and FZ) through the Alpha-1 Foundation Research Registry to collect information about patient diagnosis and treatment patterns...
March 8, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28279129/association-of-enteric-parasitic-infections-with-intestinal-inflammation-and-permeability-in-asymptomatic-infants-of-s%C3%A3-o-tom%C3%A3-island
#11
Marisol Garzón, Luis Pereira-da-Silva, Jorge Seixas, Ana Luísa Papoila, Marta Alves, Filipa Ferreira, Ana Reis
The cumulative effect of repeated asymptomatic enteric infections on intestinal barrier is not fully understood in infants. We aimed to evaluate the association between previous enteric parasitic infections and intestinal inflammation and permeability at 24-months of age, in asymptomatic infants of São Tomé Island. A subset of infants from a birth cohort, with intestinal parasite evaluations in at least four points of assessment, was eligible. Intestinal inflammatory response and permeability were assessed using fecal S100A12 and alpha-1-antitrypsin (A1AT), respectively...
March 10, 2017: Pathogens and Global Health
https://www.readbyqxmd.com/read/28265093/common-coding-variant-in-serpina1-increases-the-risk-for-large-artery-stroke
#12
Rainer Malik, Therese Dau, Maria Gonik, Anirudh Sivakumar, Daniel J Deredge, Evgeniia V Edeleva, Jessica Götzfried, Sander W van der Laan, Gerard Pasterkamp, Nathalie Beaufort, Susana Seixas, Steve Bevan, Lisa F Lincz, Elizabeth G Holliday, Annette I Burgess, Kristiina Rannikmäe, Jens Minnerup, Jennifer Kriebel, Melanie Waldenberger, Martina Müller-Nurasyid, Peter Lichtner, Danish Saleheen, Peter M Rothwell, Christopher Levi, John Attia, Cathie L M Sudlow, Dieter Braun, Hugh S Markus, Patrick L Wintrode, Klaus Berger, Dieter E Jenne, Martin Dichgans
Large artery atherosclerotic stroke (LAS) shows substantial heritability not explained by previous genome-wide association studies. Here, we explore the role of coding variation in LAS by analyzing variants on the HumanExome BeadChip in a total of 3,127 cases and 9,778 controls from Europe, Australia, and South Asia. We report on a nonsynonymous single-nucleotide variant in serpin family A member 1 (SERPINA1) encoding alpha-1 antitrypsin [AAT; p.V213A; P = 5.99E-9, odds ratio (OR) = 1.22] and confirm histone deacetylase 9 (HDAC9) as a major risk gene for LAS with an association in the 3'-UTR (rs2023938; P = 7...
March 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28263087/protein-losing-enteropathy-in-an-infant-with-rotavirus-infection
#13
Adriana Parisi, Alessandro Cafarotti, Roberta Salvatore, Piernicola Pelliccia, Luciana Breda, Francesco Chiarelli
Protein-losing enteropathy (PLE) is a rare gastro-intestinal complication characterised by intestinal loss of proteins with consequent hypoproteinaemia and generalised oedema. Rotavirus infection associated with PLE in children has rarely been reported. A 6-month-old girl presented with diarrhoea, fever and generalised oedema. Total serum proteins were 34 g/L (61-79) and plasma albumin 16.8 g/L (40-50), serum sodium was 126 mmol/L and there was mild metabolic alkalosis (pH 7.46). Stool for alpha-1 antitrypsin was >1...
March 6, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28260452/unusual-indications-for-a-liver-transplant-a-single-center-experience
#14
Aydincan Akdur, Mahir Kirnap, Ebru H Ayvazoglu Soy, Figen Ozcay, Gokhan Moray, Gulnaz Arslan, Mehmet Haberal
OBJECTIVES: This study sought to evaluate the efficacy of liver transplant for unusual liver diseases. MATERIALS AND METHODS: The results of 476 patients who underwent liver transplant from 1988 to January 2015 were retrospectively analyzed. Two hundred forty-five of them were adult patients and 231 of them were pediatric. Thirty-one patients had unusual liver disease. RESULTS: Of the 31 patients with unusual liver disease, 9 (29%) were adult and 22 (71%) were pediatric patients...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28243076/alpha-1-antitrypsin-pi-z-gene-frequency-and-pi-zz-genotype-numbers-worldwide-an-update
#15
Ignacio Blanco, Patricia Bueno, Isidro Diego, Sergio Pérez-Holanda, Francisco Casas-Maldonado, Cristina Esquinas, Marc Miravitlles
In alpha-1 antitrypsin deficiency (AATD), the Z allele is present in 98% of cases with severe disease, and knowledge of the frequency of this allele is essential from a public health perspective. However, there is a remarkable lack of epidemiological data on AATD worldwide, and many of the data currently used are outdated. Therefore, the objective of this study was to update the knowledge of the frequency of the Z allele to achieve accurate estimates of the prevalence and number of Pi*ZZ genotypes 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) measurements performed using 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/28222616/plasma-biomarkers-for-the-identification-of-women-at-risk-for-early-onset-preeclampsia
#16
Aggeliki Kolialexi, George Th Tsangaris, Stavros Sifakis, Dimitris Gourgiotis, Aggeliki Katsafadou, Alexandra Lykoudi, Antonios Marmarinos, Danai Mavreli, Vassilis Pergialiotis, Dimitra Fexi, Ariadni Mavrou, George K Papaioanou, Nikolas Papantoniou
BACKGROUND: To identify potential biomarkers in the 1st trimester of pregnancy for the identification of women destined to develop early onset preeclampsia (EOPE). METHODS: Blood samples were obtained from pregnant women at 11-13 weeks of gestation. Women were followed up until delivery. Five samples from EOPE complicated pregnancies and 5 from unaffected ones were analysed using 2-DE and MALDI-TOF-TOF MS/MS. The altered expression of selected proteins was verified by ELISA in an extended sample cohort...
March 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28203073/health-status-and-lung-function-in-the-swedish-alpha-1-antitrypsin-deficient-cohort-identified-by-neonatal-screening-at-the-age-of-37-40-years
#17
Eeva Piitulainen, Behrouz Mostafavi, Hanan A Tanash
BACKGROUND: Severe alpha 1-antitrypsin (AAT) deficiency (genotype PiZZ) is a well-known risk factor for COPD. A cohort of PiZZ and PiSZ individuals was identified by the Swedish national neonatal AAT screening program in 1972-1974 and followed up regularly since birth. Our aim was to study the lung function, respiratory symptoms and health status at the age of 38 years in comparison with a random sample of control subjects selected from the population registry. METHODS: The study group included 120 PiZZ, 46 PiSZ and 164 control subjects (PiMM), who answered a questionnaire on smoking habits and symptoms and the Saint George Respiratory Questionnaire (SGRQ) on quality of life...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28198571/pulmonary-mri-morphometry-modeling-of-airspace-enlargement-in-chronic-obstructive-pulmonary-disease-and-alpha-1-antitrypsin-deficiency
#18
Alexei Ouriadov, Eric Lessard, Khadija Sheikh, Grace Parraga
PURPOSE: We generated lung morphometry measurements using single-breath diffusion-weighted MRI and three different acinar duct models in healthy participants and patients with emphysema stemming from chronic obstructive lung disease (COPD) and alpha-1 antitrypsin deficiency (AATD). METHODS: Single-breath-inhaled (3) He MRI with five diffusion sensitizations (b-value = 0, 1.6, 3.2, 4.8, and 6.4 s/cm(2) ) was used, and signal intensities were fit using a cylindrical and single-compartment acinar-duct model to estimate MRI-derived mean linear intercept (Lm ) and surface-to-volume ratio (S/V)...
February 15, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28191362/the-anti-inflammatory-effect-of-alpha-1-antitrypsin-in-rhinovirus-infected-human-airway-epithelial-cells
#19
Di Jiang, Reena Berman, Qun Wu, Connor Stevenson, Hong Wei Chu
OBJECTIVE: Excessive airway inflammation is seen in chronic obstructive pulmonary disease (COPD) patients experiencing acute exacerbations, which are often associated with human rhinovirus (HRV) infection. Alpha-1 antitrypsin (A1AT) has anti-inflammatory function in endothelial cells and monocytes, but its anti-inflammatory effect has not been investigated in COPD airway epithelial cells. We determined A1AT's anti-inflammatory function in COPD airway epithelial cells and the underlying mechanisms such as the role of caspase-1...
December 2016: Journal of Clinical & Cellular Immunology
https://www.readbyqxmd.com/read/28182151/patterns-and-characterization-of-copd-exacerbations-using-real-time-data-collection
#20
Stanley I Ejiofor, Jan Stolk, Pablo Fernandez, Robert A Stockley
INTRODUCTION: Patients with chronic obstructive pulmonary disease often experience exacerbations. These events are important as they are a major cause of morbidity and mortality. Recently, it has been increasingly recognized that patients may experience symptoms suggestive of an exacerbation but do not seek treatment, which are referred to as unreported or untreated exacerbations. Symptom diaries used in clinical trials have the benefit of identifying both treated and untreated exacerbation events...
2017: International Journal of Chronic Obstructive Pulmonary Disease
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