نتایج جستجو برای: antitrypsin deficiency
تعداد نتایج: 139573 فیلتر نتایج به سال:
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...
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 ...
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 ...
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 ...
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...
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 ...
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...
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...
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...
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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