نتایج جستجو برای: antitrypsin deficiency

تعداد نتایج: 139573  

ژورنال: :iranian red crescent medical journal 0
bita geramizadeh department of pathology, transplant research center, shiraz university of medical sciences, shiraz, ir iran; transplant research center, shiraz university of medical sciences, shiraz, ir iran; department of pathology, transplant research center, shiraz university of medical sciences, shiraz, ir iran. tel: +98-7116474331, fax: +98-7116474331 zahra jowkar department of pathology, transplant research center, shiraz university of medical sciences, shiraz, ir iran leila karami department of pathology, transplant research center, shiraz university of medical sciences, shiraz, ir iran masoum masoumpour department of internal medicine, shiraz university of medical sciences, shiraz, ir iran samrad mehrabi department of internal medicine, shiraz university of medical sciences, shiraz, ir iran mohammad-ali ghayoumi department of internal medicine, shiraz university of medical sciences, shiraz, ir iran

background alpha-1 antitrypsin deficiency is a genetic disease which affects both lung and liver. this disease is a recognized factor for chronic obstructive pulmonary disease (copd). however its importance as the cause of copd in a country such as iran is unclear. objectives this study was conducted to find out the role of α-1 antitrypsin deficiency as a cause of copd in iranian patients. mate...

ژورنال: :hepatitis monthly 0
ignacio blanco the principality of asturias biomedical research office (oib-ficyt), oviedo, spain and alpha1-antitrypsin deficiency spanish registry, spain +34-985252481, [email protected]; uluhqsmoo}yu~yt{iofdew}w{mosyb{mom{ka~ewmsus{ch office (oib-ficyt), oviedo, spain and alpha1-antitrypsin deficiency spanish registry, spain +34-985252481, [email protected]; the principality of asturias biomedical research office (oib-ficyt), oviedo, spain and alpha1-antitrypsin deficiency spanish registry, spain +34-985252481, [email protected] frederick j. de serres national institute of environmental health sciences, research triangle park, nc, usa, usa victoriano cárcaba department of internal medicine, ‘valle del nalón hospital, principado de asturias, spain, spain beatríz lara hospital universitario arnau de vilanova, avda, institut de recerca biomédica de lleida (irb), ciberes instituto salud carlos iii, pneumology service, institut de recerca hospital universitari vall d’hebron, spain enrique fernández-bustillo biostatistics unit, central university hospital of asturias, spain

background currently, there is a remarkable lack of genetic epidemiological studies on alpha 1-antitrypsin (aat) deficiency in about half of the 193 countries of the world. this fact impedes the establishment of a true prevalence pattern of this deleterious hereditary disorder in extensive regions of human population. objectives the aim of the present study was to generate detailed maps of the ...

Journal: :archives of razi institute 2016
b.gh. ghoudarzi a. lotfi a. mesbah a. zare mirakabadi r. bagherian

53 persons suspected to alpha1-antitrypsin deficiency detection (aatd) were investigated for zz, mz, zs, ss, and ms alleles analysis by serum protein electrophoresis (spe), measurement of trypsin inhibiting capacity (tic), isoelectric focusing (ief), polymerase chain reaction (pcr), and ief/pcr-rflp techniques. the result clearly shows by using spe and tic techniques only 35.85 % and 50.08% of ...

Journal: :iranian journal of allergy, asthma and immunology 0
mohammad r. fazlollahi asghar aghamohammadi reza farid abbas s. lotfi alireza khoshdel abolhassan farhoudi

primary antibody deficiencies are the most frequent primary immunodeficiency disorders. bronchiectasis as a feature of these disorders may be developed due to some factors such α-1-antitrypsin deficiency. in order to determine the prevalence of two common α-1-antitrypsin deficiency alleles (pi*z and pi*s) in iranian patients with antibody deficiency, this study was performed. the prevalence of ...

2014
A. Dickens Dawn L. DeMeo Juan Perez S. Tamir Rashid James Day Adriana Ordoñez J. Marciniak Imran Haq Alan F. Barker Edward J. Campbell Edward Eden Noel G. McElvaney Stephen I. Rennard Robert A. Sandhaus James M. Stocks James K. Stoller Charlie Strange Gerard Turino Farshid N. Rouhani Mark Brantly David A. Lomas

Most individuals carry two wild-type M alleles of the SERPINA1 gene which encodes a1-antitrypsin. 95% of severe deficiency of a1-antitrypsin is associated with the Z allele (Glu342Lys; denoted PiZZ in the homozygote), and with the retention and polymerisation of a1-antitrypsin within hepatocytes [1]. These polymers are contained within periodic acid–Schiff-positive, diastase-resistant inclusion...

Journal: :Respiratory care 2010
Rachel M Taliercio Robert L Chatburn James K Stoller

BACKGROUND Alpha-1 antitrypsin deficiency is a common genetic condition that predisposes to emphysema and liver disease. Alpha-1 antitrypsin deficiency is under-recognized, so affected individuals often experience long delays in diagnosis and visits to multiple physicians before correct diagnosis. Reasoning that inadequate knowledge about alpha-1 antitrypsin deficiency could contribute to this ...

Journal: :The European respiratory journal 2014
Lu Tan Jennifer A Dickens Dawn L Demeo Elena Miranda Juan Perez S Tamir Rashid James Day Adriana Ordoñez Stefan J Marciniak Imran Haq Alan F Barker Edward J Campbell Edward Eden Noel G McElvaney Stephen I Rennard Robert A Sandhaus James M Stocks James K Stoller Charlie Strange Gerard Turino Farshid N Rouhani Mark Brantly David A Lomas

Most individuals carry two wild-type M alleles of the SERPINA1 gene which encodes a1-antitrypsin. 95% of severe deficiency of a1-antitrypsin is associated with the Z allele (Glu342Lys; denoted PiZZ in the homozygote), and with the retention and polymerisation of a1-antitrypsin within hepatocytes [1]. These polymers are contained within periodic acid–Schiff-positive, diastase-resistant inclusion...

Journal: :Respiratory care 2014
James K Stoller Charlie Strange Laura Schwarz Thomas J Kallstrom Robert L Chatburn

BACKGROUND Alpha-1 antitrypsin deficiency is under-recognized. We hypothesized that respiratory therapists (RTs) could help improve the detection rate of individuals with alpha-1 antitrypsin deficiency. The American Association for Respiratory Care (AARC) and Alpha-1 Foundation recently collaborated to create an online alpha-1 antitrypsin deficiency training program for RTs. This study aimed to...

Journal: :Respiratory care 2003
James K Stoller

Alpha-1 antitrypsin deficiency is a common but under-recognized condition on which respiratory therapists can have a large impact. A key recent development is the issuance of an international evidence-based standards document regarding diagnosis and management of individuals with alpha-1 antitrypsin deficiency. This report summarizes that standards document, which recommends more widespread tes...

2011
James K Stoller Helen Hollingsworth

INTRODUCTION — Alpha-1 antitrypsin (AAT) deficiency is a clinically underrecognized inherited disorder affecting the lung, liver, and rarely skin. The characteristics of the pulmonary manifestations of this disorder will be reviewed here [1-4]. Extrapulmonary disease and therapy are discussed separately. (See "Extrapulmonary manifestations of alpha-1 antitrypsin deficiency" and "Treatment of al...

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