This report draws attention to the alpha 1 antitrypsin deficiency in newborns presented as a cholestatic syndrome. Its sub-diagnosis constitutes a major constraint for recognition and appropriate treatment. Good outcomes occur in approximately 50% of patients. It is associated in most cases, to extra and intra-hepatic involvement and the absence of clinical signs that indicate its diagnosis. Th...

The S variant of the human alpha 1-antitrypsin with E-264----V, is responsible for a mild alpha 1-antitrypsin deficiency quite common in the European population. S protein specifically cleaved at the susceptible peptide bond was crystallized and its crystal structure determined and refined to 3.1 A resolution. The S variant crystallizes isomorphous to the normal M variant. The difference Fourie...

Dawn L DeMeo, Robert A Sandhaus, Alan F Barker, Mark L Brantly, Edward Eden, N Gerard McElvaney, Stephen Rennard, Esteban Burchard, James M Stocks, James K Stoller, Charlie Strange, Gerard M Turino, Edward J Campbell, Edwin K Silverman . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....

The proteinase inhibitory ability of alpha 1 antitrypsin was measured in 23 samples of rheumatoid arthritis synovial fluid, eight osteoarthritic synovial fluids and nine normal control serum samples. For each sample a detailed kinetic analysis was performed with porcine pancreatic elastase as the target proteinase. Samples were stored for less than 24 hours at 4 degrees C before analysis, which...

An attempt was made to quantify mast cells using toluidine blue and macrophages, with alpha-1-antitrypsin as a marker, from adjacent sections in the mucosa of two groups of gall bladders showing either minimal inflammatory change or established chronic cholecystitis. The results were expressed as cells/mm2 of mucosa. Alpha-1-antitrypsin showed both macrophages and mast cells, and therefore an e...

alpha-1-Antitrypsin is found in hepatocytes as a high-mannose glycoprotein (Mr 49 000), extracellularly as a complex-type glycoprotein (Mr 54 000). Deglycosylation of both forms with peptide: N-glycosidase led to proteins of identical app. Mr (41 000). The sequence of 26 N-terminal amino acids of rat alpha 1-antitrypsin was determined. A high content of polar amino acids was found. The partiall...

Alpha-1 antitrypsin deficiency is a recently identified genetic disease that occurs almost as frequently as cystic fibrosis. It is caused by various mutations in the SERPINA1 gene, and has numerous clinical implications. Alpha-1 antitrypsin is mainly produced in the liver and acts as an antiprotease. Its principal function is to inactivate neutrophil elastase, preventing tissue damage. The muta...

Ectopic livers are infrequently reported in the literature. The reported size for ectopic livers range from a few millimeters up to several centimeters. They are often clinically silent and incidentally discovered during imaging of the hepatobiliary tract, regional surgical procedures or autopsy. They are predestined for benign liver diseases otherwise observed in normal livers like fatty chang...