Functional activity of the endothelium and immune status in atherosclerotic lesions of the aorto-iliac segment and revascularization

Objective. The aim of the study is the evaluation of endothelial functional activity and immune status in systemic and local blood flow in atherosclerotic lesions of the aorto-iliac segment after open and endovascular interventions and establishing the relationship with the lesion class. Materials and methods. The study included 190 patients with lesions of the aorto-iliac segment. Depending on the type of surgical intervention, patients were divided into two groups: group I (n=97) - patients who underwent aorto-femoral bypass surgery, group II (n=93) - patients who underwent TRANS-balloon angioplasty with stenting of the iliac arteries. Results. Violations of the functional state of the endothelium and the immune status in the systemic and local blood flow, which do not correlate with the TASC II lesion class (TransAtlantic Inter-Society Consensus II), were revealed. There were differences in the factors of endothelial damage (in patients of group II before surgery, the level of homocysteine in the systemic blood flow, oxidized low-density lipoproteins in the systemic and local blood flow), hemostatic form of endothelial dysfunction (in group I, inhibitor of tissue plasminogen activator type I (PAI-1) in the systemic and tissue plasminogen activator (t-PA) in the local blood flow) and apoptosis (higher in group I in the systemic and local blood flow). During revascularization of the aorto-iliac segment, there were violations of the hemostatic form of endothelial dysfunction in group II with an increase in PAI-1 by 14.8% (p<0.001) in the systemic blood flow and by 1.9 times (p<0.001) in the revascularized arterial segment compared to group I. In group II after revascularization was significantly higher the immunoglobulins (Ig) class A in system and the circulating immune complexes, interleukins 1 (IL-1) in local blood flow and lower levels of IgM, interleukins 6 (IL-6), IL-1 in system and IgA, IgM, IL-6 in local blood flow compared with I group. Conclusion. The study of the features of the functional state of the endothelium and the immune status will optimize the management strategies of patients after various types of revascularization interventions on the aorto-iliac segment.

Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed.