Возможности диагностики и лечения больных ХОБЛ в рамках реальной клинической практики. Подходы к терапии пациентов с различными фенотипами по GOLD (2019): материалы Совета экспертов Сибирского федерального округа, Читы и Бурятии от 15.03.19

Chronic obstructive pulmonary disease (COPD) is a global problem in modern medicine. In recent years, the medical community’s understanding of COPD has changed significantly, which is primarily due to the emergence of a new classification and the identification of various phenotypes of the disease. These changes could not affect the tactics of COPD treatment. The article discusses not only the debatable issues of treating COPD; it provides an overview of changes in international (Global Initiative for Chronic Obstructive Lung Disease, 2018) and national (2019) recommendations, but also the significance and benefits of triple therapy in terms of evidence-based medicine as well as the benefits of extra-fine drugs in the treatment of bronchial obstructive syndrome.Хроническая обструктивная болезнь легких (ХОБЛ) представляет собой глобальную проблему современной медицины. За последние годы представление медицинского сообщества о ХОБЛ существенно изменилось, что связано в первую очередь с появлением новой классификации и выделением различных фенотипов заболевания. Эти изменения не могли не повлиять на тактику лечения ХОБЛ. В статье рассматриваются не только дискуссионные вопросы лечения ХОБЛ, представлен обзор изменений в международных (Гло - бальная инициатива по диагностике, лечению и профилактике ХОБЛ (Global Initiative for Chronic Obstructive Lung Disease, 2018)) и национальных (2019) рекомендациях, но и значение и преимущества тройной терапии с точки зрения доказательной медицины, а также преимущества экстрамелкодисперсных препаратов при лечении бронхообструктивного синдрома

Polymorphism of the adiponutrin gene (PNPLA3) in the indigenous inhabitants of the Republic of Sakha (Yakutia) with type 2 diabetes mellitus

Rationale: The association of rs738409 I148M polymorphism with type 2 diabetes mellitus (T2DM) and non-alcoholic fatty liver disease has been confirmed for several ethnic and territorial groups. Up to now, no such studies have been performed in the populations of Yakutia.Aim: To study allele frequency distribution and to identify associations of the PNPLA3 gene polymorphism (rs738409 C>G) with T2DM in the Yakuts.Materials and methods: DNA samples from 106 T2DM patients were used in the study; the control group included samples from 72 healthy volunteers. All study participants were ethnic Yakuts and were living in the territory of the Republic of Sakha (Yakutia), Russian Federation. rs738409 polymorphism of the PNPLA3 gene was studied by polymerase chain reaction and by restriction fragment length polymorphism.Results: There were no significant difference in the distribution of the allele frequencies and genotypes of the polymorphous variant of the PNPLA3 gene (rs738409) between the T2DM patients and the healthy control. Both groups showed prevailing allele G (р = 0.01) and homozygous genotype GG (96%).Conclusion: High frequency of the allele G (74.1%) with predominance of GG genotype (58.5%) was found in type 2 diabetic patients

Nuclear organisation of sperm remains remarkably unaffected in the presence of defective spermatogenesis

Organisation of chromosome territories in interphase nuclei has been studied in many systems and positional alterations have been associated with disease phenotypes (e.g. laminopathies, cancer) in somatic cells. Altered nuclear organisation is also reported in developmental processes such as mammalian spermatogenesis where a "chromocentre" model is proposed with the centromeres and sex chromosomes repositioning to the nuclear centre. The purpose of this study was to test the hypothesis that alterations in nuclear organisation of human spermatozoa are associated with defects upstream in spermatogenesis (as manifest in certain infertility phenotypes). The nuclear address of (peri-) centromeric loci for 18 chromosomes (1-4, 6-12, 15-18, 20, X and Y) was assayed in 20 males using established algorithms for 3D extrapolations of 2D data. The control group comprised 10 fertile sperm donors while the test group was 10 patients with severely compromised semen parameters including high sperm aneuploidy. All loci examined in the control group adopted defined, interior positions thus providing supporting evidence for the presence of a chromocentre and interior sex chromosome territories. In the test group however there were subtle alterations in the nuclear address for certain centromeres in individual patients and, when all patient results were pooled, some different nuclear addresses were observed for chromosomes 3, 6, 12 and 18. Considering the extensive impairment of spermatogenesis in the test group (evidenced by compromised semen parameters and increased chromosome abnormalities), the observed differences in nuclear organisation for centromeric loci compared to the controls were modest. A defined pattern of nuclear reorganisation of centromeric loci in sperm heads therefore appears to be a remarkably robust process, even if spermatogenesis is severely compromised