keyword
MENU ▼
Read by QxMD icon Read
search

antitrypsin deficiency

keyword
https://www.readbyqxmd.com/read/28328804/liver-function-in-alpha-1-antitrypsin-deficient-individuals-at-37-to-40-years-of-age
#1
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
#2
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/28306356/an-epidemiological-overview-of-chronic-obstructive-pulmonary-disease-what-can-real-life-data-tell-us-about-disease-management
#3
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
#4
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
#5
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/28295475/downregulation-of-hnf-4%C3%AE-and-defective-zonation-in-livers-expressing-mutant-z-%C3%AE-1-antitrypsin
#6
Pasquale Piccolo, Patrizia Annunziata, Leandro R Soria, Sergio Attanasio, Anna Barbato, Raffaele Castello, Annamaria Carissimo, Luca Quagliata, Luigi M Terracciano, Nicola Brunetti-Pierri
α1 -antitrypsin (AAT) deficiency is one of the most common genetic disorders and the liver disease due to the Z mutant of α1 -antitrypsin (ATZ) is a prototype of conformational disorder due to misfolding of protein with consequent aberrant intermolecular protein aggregation. In the present study, we found that livers of PiZ transgenic mice expressing the human ATZ have altered expression of a network of hepatocyte transcriptional factors including HNF4-α, that is early downregulated and induces a transcriptional repression of ATZ expression...
March 15, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28289587/polymorphisms-of-%C3%AE-1-antitrypsin-and-interleukin-6-genes-and-the-progression-of-hepatic-cirrhosis-in-patients-with-a-hepatitis-c-virus-infection
#7
T Motawi, O G Shaker, R M Hussein, M Houssen
Hepatitis C virus (HCV) infection represents a serious health problem. The -174 G/C mutation in the pro inflammatory cytokine interleukin-6 (IL-6) is associated with developing liver diseases. Likewise, the S and Z mutations in the serine protease inhibitor α1-antitrypsin (A1AT) are associated with pulmonary emphysema and/or liver cirrhosis. We explored the distribution of the single nucleotide polymorphisms (SNPs) of IL-6 and A1AT genes in chronic HCV-infected patients and evaluated their impact on the progression of liver cirrhosis...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28284783/the-allergist-s-role-in-detection-of-severe-alpha-1-antitrypsin-deficiency
#8
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/28270697/liver-taking-out-the-junk-to-treat-%C3%AE-1-antitrypsin-deficiency
#9
S Tamir Rashid, David A Lomas
No abstract text is available yet for this article.
March 8, 2017: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28260452/unusual-indications-for-a-liver-transplant-a-single-center-experience
#10
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/28257315/personalized-medicine-and-chronic-obstructive-pulmonary-disease
#11
E F M Wouters, B B R A F Wouters, I M L Augustin, F M E Franssen
PURPOSE OF REVIEW: The current review summarizes ongoing developments in personalized medicine and precision medicine in chronic obstructive pulmonary disease (COPD). Our current approach is far away of personalized management algorithms as current recommendations for COPD are largely based on a reductionist disease description, operationally defined by results of spirometry. RECENT FINDINGS: Besides precision medicine developments, a personalized medicine approach in COPD is described based on a holistic approach of the patient and considering illness as the consequence of dynamic interactions within and between multiple interacting and self-adjusting systems...
March 9, 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/28243076/alpha-1-antitrypsin-pi-z-gene-frequency-and-pi-zz-genotype-numbers-worldwide-an-update
#12
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/28217691/%C3%AE-1-antitrypsin-deficiency-a-misfolded-secretory-protein-variant-with-unique-effects-on-the-endoplasmic-reticulum
#13
David H Perlmutter
In the classical form of α1-antitrypsin deficiency (ATD) a point mutation leads to accumulation of a misfolded secretory glycoprotein in the endoplasmic reticulum (ER) of liver cells and so ATD has come to be considered a prototypical ER storage disease. It is associated with two major types of clinical disorders, chronic obstructive pulmonary disease (COPD) by loss-of-function mechanisms and hepatic cirrhosis and carcinogenesis by gain-of-function mechanisms. The lung disease predominantly results from proteolytic damage to the pulmonary connective tissue matrix because of reduced levels of protease inhibitor activity of α1-anitrypsin (AT) in the circulating blood and body fluids...
September 2016: Endoplasmic Reticulum Stress in Diseases
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
#14
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
#15
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/28183045/new-process-for-purifying-high-purity-%C3%AE-1-antitrypsin-from-cohn-fraction-iv-by-chromatography-a-promising-method-for-the-better-utilization-of-plasma
#16
Chaoji Huangfu, Jinchao Zhang, Yuyuan Ma, Junting Jia, Maomin Lv, Xiong Zhao, Jingang Zhang
α1-antitrypsin (AAT) is a 52kDa serine protease inhibitor that is abundant in plasma. It is synthesized mainly by hepatic cells, and widely used to treat patients with emphysema due to congenital deficiency of AAT. A new isolation method for the purification of AAT from Cohn Fraction IV (Cohn F IV) is described. Cohn F IV is usually discarded as a byproduct from Cohn process. Using Cohn F IV as starting material does not interfere with the production of other plasma proteins and the cost of purification could be reduced greatly...
February 1, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28182151/patterns-and-characterization-of-copd-exacerbations-using-real-time-data-collection
#17
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
#18
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/28137880/class-i-restricted-t-cell-responses-to-a-polymorphic-peptide-in-a-gene-therapy-clinical-trial-for-%C3%AE-1-antitrypsin-deficiency
#19
Roberto Calcedo, Suryanarayan Somanathan, Qiuyue Qin, Michael R Betts, Andrew J Rech, Robert H Vonderheide, Christian Mueller, Terence R Flotte, James M Wilson
Adeno-associated virus (AAV)-mediated gene therapy is currently being pursued as a treatment for the monogenic disorder α-1-antitrypsin (AAT) deficiency. Results from phase I and II studies have shown relatively stable and dose-dependent increases in transgene-derived wild-type AAT after local intramuscular vector administration. In this report we describe the appearance of transgene-specific T-cell responses in two subjects that were part of the phase II trial. The patient with the more robust T-cell response, which was associated with a reduction in transgene expression, was characterized more thoroughly in this study...
February 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28129926/panniculitis-a-summary
#20
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
keyword
keyword
96912
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"