[THE LABORATORY MARKERS OF DETECTION OF BETA-THALASSEMIA CARRIAGE].

The article presents the results of examination of 110 patients (57 males and 53 females aged from 2 to 58 years) with microcytic hypochromic anemia. The kit of laboratory markers comprised hematological parameters (MCV, Metzer Index), biochemical (serum iron, ferritin), electrophoresis data (Hb, A2, Hb F) and molecular genetic analysis data (mutations of beta-globin gene). The application of this kit permitted to detected and to prove carriage of thalassemia шт 70 out of 110 patients with microcytic anemia. The proposed markers' kit can be applied in screening programs and in differential diagnostic of agents of beta-thalassemia and patients with iron-deficiency anemia.

[Aberrant methylation of the promoter regions of the SOX7 and p15INK4b genes and Wnt signaling pathway antagonists in patients with acute myeloid leukemias]. / Aberrantnoe metilirovanie promotornykh oblastei genov SOX7, p15INK4b i antagonistov signal'nogo puti Wnt u bol'nykh ostrymi mieloidnymi leikozami.

AIM: to investigate the methylation status of the SOX7 and p15NK4b genes and Wnt signaling pathway antagonists in patients with acute myeloid leukemia (AML) in order to assess the association of the rate of aberrant methylation (AM) with the morphological variant and pattern of chromosomal aberrations, as well as the impact of the methylation status on survival. SUBJECTS AND METHODS: The data of 57 AML patients aged 20 to 79 years were analyzed. The methylation status of the genes was studied by methylation-specific polymerase chain reaction. RESULTS: The signs of the AM of ≥1 gene were detected in 52 (91.2%) of the 57 patients. The most common finding was AM of simultaneously 2 or 3 genes: in 29.8 and 21.1% of the patients, respectively. Concurrent methylation of 3-5 genes proved to be a more frequent finding in AML patients with myelodysplasia: in 7 (70%) of 10 patients. The proportion of patients with methylation of 5 genes was considerably higher in a group of patients with a complex karyotype: 50% versus 8.3% among other patients (odds ratio: 11.0; 95% confidence interval 2.0 to 61.6; p=0.01). There were no differences in the median overall and relapse-free survival rates in patients with a normal karyotype and without FLT3 and NPM mutations, who received induction therapy, in relation to the number of genes with AM. CONCLUSION: AM of the p15NK4b and SOX7 genes and Wnt signaling pathway antagonists is detected in the majority of patients with AML, which allows hypomethylating agents to be recommended for the treatment of patients who cannot use intensive cytostatic therapy for different reasons. The detection of a large number of genes with the aberrant methylation status in most AML patients with myelodysplasia or a complex karyotype serves as the basis for initiating trials to evaluate the efficiency of a combination of 5-azacytidine and cytostatics.

Renal insufficiency in multiple myeloma: basic mechanisms in its development and methods for treatment.

Baseline renal function and the renal reserve capacity were examined in 60 patients with multiple myeloma (MM). The factors leading to the development of chronic renal insufficiency (CRI) were explored through a series of conventional studies which included renal ultrasonography. In these patients, the main cause of CRI was hyper(para)proteinemia and paraproteinuria. Ultrasonography was important in determining kidney size, in evaluating the size of the renal parenchyma and calyces, and in detecting abnormalities in the urodynamics of the upper urinary tract. Plasmapheresis was shown to be an effective method for the treatment of established CRI. In addition, plasmapheresis was employed as the prophylactic therapy when abnormalities were seen on renal ultrasonography even in the absence of overt functional impairment. Plasmapheresis may be an efficient measure to protect against tubular injury and to improve the glomerular filtration rate.