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Alpha-1antitrypsin deficiency

Ahmad Ghasemi, Mahnaz Mohtashami, Samaneh Sotoudeh Sheijani, Kamelya Aliakbari
Alpha-1antitrypsin (A1AT) deficiency, an inherited disorder, has been shown to be the cause of lung diseases such as emphysema and chronic obstructive pulmonary disease. One of the treatment strategies to provide appropriate and adequate concentrations of A1AT in the lungsis the application of nanoparticles (NPs) in pulmonary drug delivery. In the current study, biocompatible nanohydrogels were prepared using chemically cross-linked chitosan with ginepin, a natural cross linker reagent, and used as a carrier to deposit A1AT into the lung tissue...
November 2015: Research in Pharmaceutical Sciences
Amal F Gharib, Rehab A Karam, Heba F Pasha, Mohamed I Radwan, Wael H Elsawy
Hereditary hemochromatosis and alpha-1antitrypsin deficiency are genetic diseases characterized by endoplasmic reticulum (ER) stress with subsequent development of liver disease. Our aim was to estimate the frequency of hemochromatosis gene (HFE) mutant alleles (C282Y and H63D) and alpha-1 antitrypsin S/Z variants among Egyptian HCV cirrhotic patients and in hepatocellular carcinoma patients and to evaluate their effects on disease progression. HFE and alpha-1 antitrypsin polymorphisms were characterized in 200 Egyptian patients with HCV infection (100 patients complicated with cirrhosis, 100 patients with HCC) and 100 healthy subjects who had no history of any malignancy...
December 10, 2011: Gene
H G Benkmann, L Timar, I Szentesi, U Wimmer, E Lohmann, A Czeizel, H W Goedde
12 population groups of Hungary, 1514 individuals altogether, have been studied for polymorphisms of alpha 1antitrypsin, serum cholinesterase, paraoxonase and delta-aminolevulinic acid dehydrase, N-acetyltransferase variation and aldehyde dehydrogenase deficiency. A possible relationship between their allele frequencies and environmental factors in the context of ecogenetic and pharmacogenetic phenomena in Hungary is discussed.
December 1993: Gene Geography: a Computerized Bulletin on Human Gene Frequencies
C H Rieger, T Kawasaki, Y Yanase, U Pollack
Total hemolytic activity of serum (CH50), complement components C3 and C4, alpha 1antitrypsin (alpha 1AT), alpha 1antichymotrypsin (alpha 1X), antithrombin III (AT III), alpha 2 macroglobulin (alpha 2M), and inter-alpha-inhibitor (I-alpha-I) were measured in 23 Japanese and 19 European children with the Mucocutaneous Lymph node Syndrome (MCLS) during the acute phase of disease. Second sera, obtained after day 20 were available from 18 Japanese and 10 European children. In 28 out of 31 children with mild disease, as assessed by the coronary risk score of Asai and Kusakawa, complement was normal or elevated during the acute phase...
April 1983: European Journal of Pediatrics
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