2016
DOI: 10.17116/terarkh20168812120-125
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Hereditary afibrinogenemia: A literature review and clinical observations

Abstract: Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L. The clinical manifestations of the disease can be both bleeding and thromboses of different localizations, which is determined by the multifunctional role of fibrinogen in hemostasis. The described cases demonstrate different clinical phenotypes of the disease. In both cases the diagnosis was confirmed by genetic examinations that revealed homozygous mut… Show more

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Cited by 4 publications
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“…In the nematode Caenorhabditis elegans, the intestinal lipid metabolic sensors SBP-1 and MDT-15 respond to simulated microgravity, with RNAi knockdown of sbp-1 and mdt-15 reducing lipid toxicity 12 . Spaceflight metabolic studies from the Bion space program (Kosmos 605, 690, 782, 936 and 1887 (1973-87)) [13][14][15] characterised rats as hyperlipidemic, with spaceflight inducing elevated serum or hepatic fatty acids, and substantial increases in cholesterol (67%). Similar lipid dysregulation, suggestive of non-alcoholic fatty liver disease (NFALD), has been a consistently observed mammalian response to spaceflight alongside aligned disruption of insulin metabolism and glucose homeostasis [16][17][18][19][20] .…”
Section: Introductionmentioning
confidence: 99%
“…In the nematode Caenorhabditis elegans, the intestinal lipid metabolic sensors SBP-1 and MDT-15 respond to simulated microgravity, with RNAi knockdown of sbp-1 and mdt-15 reducing lipid toxicity 12 . Spaceflight metabolic studies from the Bion space program (Kosmos 605, 690, 782, 936 and 1887 (1973-87)) [13][14][15] characterised rats as hyperlipidemic, with spaceflight inducing elevated serum or hepatic fatty acids, and substantial increases in cholesterol (67%). Similar lipid dysregulation, suggestive of non-alcoholic fatty liver disease (NFALD), has been a consistently observed mammalian response to spaceflight alongside aligned disruption of insulin metabolism and glucose homeostasis [16][17][18][19][20] .…”
Section: Introductionmentioning
confidence: 99%