Pathomorphological analysis of skin biopsy specimens from patients with Fabry disease showed edema and mucoid swelling of vascular walls in the skin, pronounced telangiectasias, endotheliocyte degeneration and death, compensatory proliferation of pericytes, and mast cell hyperplasia. Ultrastructural study revealed transformation of vascular cells (endotheliocytes and pericytes) into depocytes accumulating large specific polymorphic granules of varying electron density with fine regular striation, which is pathognomonic for Fabry disease. The complex of these structural changes is interpreted as manifestation of systemic vasculopathy.
Классическим аутовоспалительным синдромом (АВС) является TRAPS (TNF-receptor-associated periodic syndrome). Представлено на-блюдение повторных случаев TRAPS в русской семье. При молекулярно-генетическом обследовании ребенка 9 лет, его матери и ба-
Tumor necrosis factor (TNF) receptor-1-associated periodic syndrome (TRAPS) is a classical autoinflammatory syndrome (AIS). The paper describes repeated cases of TRAPS in an ethnic Russian family. Molecular genetic examination of a 9-year-old boy, his mother and his grandmother has revealed the heterozygous mutation of c151C
A high level of polyunsaturated fatty acids in erythrocyte membranes and an increased concentration of LPO products in the plasma and erythrocytes are observed in children with severe and moderate iron deficiency, whereas the values do not differ from the control in children with mild and latent iron deficiency. It is assumed that the excess of polyunsaturated fatty acids in erythrocyte membranes may lead to a shortening of the erythrocyte life span in severe and moderate iron deficiency. Key Words: fatty acids; erythrocyte membranes; iron deficiency; lipid peroxidationThe development of iron deficiency anemia (IDA) is attended by an acceleration of imperfect hemopoiesis and by the appearance of erythrocytes with abnormal shape and reduced life span in the peripheral blood [6]. An important role in the genesis of these disturbances is allocated to impaired synthesis of the lipid component of erythrocyte membranes [14] and insufficient activity of erythrocyte enzymes (catalase, aconitase, cytochrome oxidase) and SH groups [4,13], which facilitate the susceptibility of erythrocyte membranes for oxidation [5]. In vitro studies of physicocliemical properties of erythrocytes in adults have revealed that one of the causes of their reduced life span is a high sensitivity to glucose deficit and a low capability for deformation due to excessive rigidity [12] due not only to an altered lipid component but also to impaired functioning of mem- tibility for oxidation [2]. Despite the great number of investigations of physicochemical properties of erythrocytes in iron deficiency, the composition of erythrocyte membranes and the intensity of lipid peroxidation (LPO) in this disorder remain poorly understood.The aim of the present investigation was to study the composition of FA of the lipid fraction of erythrocyte membranes and the intensity of LPO in children with iron deficiency of varying severity. MATERIALS AND METHODSFA of the lipid fraction of erythrocyte membranes and the intensity of LPO were studied in 46 children with different degrees of iron deficiency. Of these, 11 children had latent iron deficiency (LID) and 35 IDA of different severity. The children were aged from 9 to 24 months. LID and IDA were diagnosed as recommended earlier [111. Parameters of the fatty acid composition of lipids from erythrocyte membranes and the activity of LPO in healthy children of the same age served as the control. The total lipid fraction was ex-
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