نتایج جستجو برای: antitrypsin deficiency
تعداد نتایج: 139573 فیلتر نتایج به سال:
ROSENBAUM EM, CHAPATON-RIVARD E, OVERDORF C. Alpha 1 Antitrypsin Deficiency, Two Cases of Heterozygous S and Clayton Null Alleles. Spartan Med. Res. J. Vol. 2, No. 2, pp. 22-28, 2017. CONTEXT: Alpha-1 antitrypsin deficiency (AATD) is a disorder that can lead to early onset lung and liver disease and is considered to be underdiagnosed. The purpose of this paper is to demonstrate the importance o...
Polymerization of members of the serpin superfamily underlies diseases as diverse as cirrhosis, angioedema, thrombosis and dementia. The Drosophila serpin Necrotic controls the innate immune response and is homologous to human alpha(1)-antitrypsin. We show that necrotic mutations that are identical to the Z-deficiency variant of alpha(1)-antitrypsin form urea-stable polymers in vivo. These necr...
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 ...
BACKGROUND Chronic obstructive pulmonary disease (COPD) is characterized by fixed airflow obstruction and accelerated decline of forced expired volume in 1 second (FEV1). Alpha-1-antitrypsin deficiency is a genetic cause of COPD and associated with more rapid decline in lung function, even in some never smokers (NS) but the potential for individualized assessment to reveal differences when comp...
A review of the clinical manifestations of alpha(1)-antitrypsin (AAT) deficiency, including lung disease and liver disease, and risk factors affecting the rate of decline in lung function in AAT deficient patients.
In 1997, the World Health Organization recommended establishing an international registry of alpha1-antitrypsin deficiency. The objective of the present article is to describe the organisation of an international network of registries, the Alpha One International Registry (AIR), and the processes of enrolling and entering data. By the end of 2005, the registry included individuals from 21 count...
Degradation of extracellular matrix components is central to many pathological features of chronic destructive lung disorders. Desmosine and isodesmosine are elastin-derived cross-linked amino acids whose urine levels are considered representative of elastin breakdown. The aim of this study was to apply a novel methodology, based on high-performance capillary electrophoresis, to the quantificat...
BACKGROUND The overexpression of interferon (IFN)gamma or interleukin (IL)-13 in the adult murine lung induces the development of changes that mirror human lung emphysema. METHODS IL-13 and IFNgamma expression was determined in lung samples from five groups of PATIENTS severe emphysema without alpha(1)-antitrypsin deficiency (SE+, n = 10); severe emphysema with alpha(1)-antitrypsin deficien...
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