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Alpha 1 antitrypsin

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https://www.readbyqxmd.com/read/28222616/plasma-biomarkers-for-the-identification-of-women-at-risk-for-early-onset-preeclampsia
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28178162/genotyping-diagnosis-of-alpha-1-antitrypsin-deficiency-in-saudi-adults-with-liver-cirrhosis
#6
Noura Al-Jameil, Amina A Hassan, Ahlam Buhairan, Rana Hassanato, Sree R Isac, Maram Al-Otaiby, Basmah Al-Maarik, Iman Al-Ajeyan
The acute phase protein alpha-1 antitrypsin (AAT) is mainly produced in liver cells. AAT deficiency affects the lungs and liver. We conducted a case-control study to define a valuable method for the proper diagnosis of alpha-1 antitrypsin deficiency (AATD), as well as the association of liver cirrhosis with AATD in Saudi adults.Blood samples from 300 liver cirrhosis patients and 400 controls were analyzed according to serum AAT concentration, phenotyping, and genotyping. Nephelometry was used for AAT quantification, isoelectric focusing electrophoresis was used for phenotyping detection, and real-time PCR was used for genotyping to determine the Z and S deficiency alleles...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28158993/comparative-differential-proteomic-analysis-of-minimal-change-disease-and-focal-segmental-glomerulosclerosis
#7
Vanessa Pérez, Dolores López, Ester Boixadera, Meritxell Ibernón, Anna Espinal, Josep Bonet, Ramón Romero
BACKGROUND: Minimal change disease (MCD) and primary focal segmental glomerulosclerosis (FSGS) are glomerular diseases characterized by nephrotic syndrome. Their diagnosis requires a renal biopsy, but it is an invasive procedure with potential complications. In a small biopsy sample, where only normal glomeruli are observed, FSGS cannot be differentiated from MCD. The correct diagnosis is crucial to an effective treatment, as MCD is normally responsive to steroid therapy, whereas FSGS is usually resistant...
February 3, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28129926/panniculitis-a-summary
#8
Mark R Wick
The diagnosis of panniculitis is felt to be a confusing topic by some pathologists. This summarical article presents inflammatory diseases of the subcutis in a systematic fashion, based on whether they are centered on fibrovascular septa or the adipose lobules, and whether morphologic vasculitis is present or not. Septocentric, non-vasculitis disorders include erythema nodosum, panniculitis that follows the use of "biological" therapeutic agents, lipodermatosclerosis, post-irradiation panniculitis, morphea profunda, and necrobiosis lipodica profunda...
December 27, 2016: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/28121484/ubiquitin-ligase-syvn1-hrd1-facilitates-degradation-of-the-serpina1-z-variant-alpha-1-antitrypsin-z-variant-via-sqstm1-p62-dependent-selective-autophagy
#9
Lijie Feng, Jin Zhang, Na Zhu, Qian Ding, Xiaojie Zhang, Jishuang Yu, Weimin Qiang, Zhetao Zhang, Yuyang Ma, Dake Huang, Yujun Shen, Shengyun Fang, Yifan Yu, Haiping Wang, Yuxian Shen
SERPINA1/AAT/alpha-1-antitrypsin (serpin family A member 1) deficiency (SERPINA1/ AAT-D) is an autosomal recessive disorder characterized by the retention of misfolded SERPINA1/AAT in the endoplasmic reticulum (ER) of hepatocytes and a significant reduction of serum SERPINA1/AAT level. The Z variant of SERPINA1/AAT, containing a Glu342Lys (E342K) mutation (SERPINA1(E342K)/ATZ), the most common form of SERPINA1/AAT-D, is prone to misfolding and polymerization, which retains it in the ER of hepatocytes and leads to liver injury...
January 25, 2017: Autophagy
https://www.readbyqxmd.com/read/28120746/state-of-the-art-testing-for-alpha-1-antitrypsin-deficiency
#10
F Kueppers, C Sanders
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a genetic condition characterized by low serum levels of the proteinalpha-1 antitrypsin. Because there are no unique clinical symptoms that point to a definitive diagnosis of AATD, laboratorytesting is crucial to differentiate this disease from others. OBJECTIVE: To summarize advances in laboratory techniques used to test for AATD. METHODS: Data were sourced from a nonsystematic literature review of MEDLINE and the author's personal literature collection, and by checking reference lists of sourced articles...
January 24, 2017: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/28117336/cd5-molecule-like-and-transthyretin-as-putative-biomarkers-of-chronic-myeloid-leukemia-an-insight-from-the-proteomic-analysis-of-human-plasma
#11
Iram Fatima, Saima Sadaf, Syed Ghulam Musharraf, Naghma Hashmi, Muhammad Waheed Akhtar
Better and sensitive biomarkers are needed to help understand the mechanism of disease onset, progression, prognosis and monitoring of the therapeutic response. Aim of this study was to identify the candidate circulating markers of chronic-phase chronic myeloid leukemia (CP-CML) manifestations, having potential to develop into predictive- or monitoring-biomarkers. A proteomic approach, two-dimensional gel electrophoresis in conjunction with mass spectrometry (2DE-MS), was employed for this purpose. Based on the spot intensity measurements, six proteins were found to be consistently dysregulated in CP-CML subjects compared to the healthy controls [false discovery rate (FDR) threshold ≤0...
January 24, 2017: Scientific Reports
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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