HSCT FOR CHRONIC MYELOPROLIFERATIVE DISEASES

THE BRAZILIAN SOCIETY FOR BLOOD AND MARROW TRANSPLANTATION (SBTMO) PRESENTS THE BRAZILIAN GUIDELINES ON HEMATOPOIETIC STEM CELL TRANSPLANTATION

Design of method for detecting single nucleotide polymorphisms of DNA non-coding region rs17185536: potential diagnostic value

A large-scale study of DNA sequencing databases (Jorgenson E., et al., 2018) to search for hereditary susceptibility to early erectile dysfunction revealed an association with the rs17185536-T polymorphism regulating the expression of topologically associating domain, among which is the SIM1 gene, which plays an important role in maintaining mass body and sexual function. The proximity of the rs17185536 locus to the CCNC (cyclin C), PRDM13 (histone methyltransferase) and USP45 (ubiquitin-specific peptidase 45) genes suggests the possible involvement of this polymorphism in the pathogenesis and other diseases associated with impairments of these genes.Materials and methods. The study included a total of 280 people: 81 of which were healthy donors, 116 pregnant women, 25 patients with polycythemia vera, 29 with essential thrombocythemia, and 29 with primary myelofibrosis.Results. Using the original method of determining the polymorphism rs17185536, the allele of specific PCR-RT showed that the prevalence of the T allele among all examined patients was 19 %, and variants of the genotypes: C/C with 73 %, C/T with 23 % and T/T with 4 %, which corresponds to Winkler e. a. data. The absence of statistically significant differences in the frequency of occurrence of this polymorphism in the pathology of pregnancy and in chronic myeloproliferative diseases indicates a low probability of involvement of rs17185536-T in the pathogenesis of these diseases. In the group of pregnant women, there is an association of the rs17185536-T allele with obesity, uterine fibroids and the development of preeclampsia.Conclusions. For the first time, using the original method of analysis, it was confirmed that the Russian population has a comparable prevalence of the gene of hereditary susceptibility to impotence. Despite the topographic proximity of the rs17185536 locus to the genes regulating the repair and functioning of DNA, its polymorphisms do not affect the risk of chronic myeloproliferative diseases developing. The association of the rs17185536-T allele with the risk of developing a pregnancy pathology requires further study.

HYPOXIC ERYTHROCYTOSIS

The article presents a brief review of literature which shows the characteristic of bronchopulmonary and cardiovascular diseases that most often cause secondary absolute hypoxic erythrocytosis. The information about pathogenesis of blood changes at this nosology is given. The principles of differential diagnosis between secondary absolute hypoxic erythrocytosis and chronic myeloproliferative diseases, i.e. polycythemia vera and idiopathic myelofibrosis in erythremia stage are set. As an example three clinical cases of personal experience of the authors are given: 1) the patient who developed hypoxic erythrocytosis against chronic pulmonary heart disease formed due to a combination of COPD and Pickwick syndrome and "sleep apnea"; 2) the patient admitted to hospital initially only in connection with changes in the blood (erythrocytosis) for differential diagnosis and who was revealed to have arteriovenous malformation of the lung vessels; 3) the case of primary pulmonary hypertension diagnosis in a young patient with multiple comorbidities.