scholarly journals ORGANIZATION OF AID IN CYSTIC FIBROSIS PATIENTS IN THE NORTH-CAUCASIAN FEDERAL REGION

2019 ◽  
Vol 20 (2) ◽  
pp. 84-89
Author(s):  
E. V. Vodovozova ◽  
L. N. Ledeneva ◽  
N. I. Kapranov ◽  
T. A. Ponomareva ◽  
I. V. Polyakova ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Short Duration ◽  
Russian Federation ◽  
Social Problem ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
The North ◽  
Regional Center ◽  
Therapeutic Measures ◽  
The Russian Federation

Cistic fibrosis (CF) is the hereditary disease, presenting the important medical social problem, related with timely diagnostics, the early disablement of patients, short duration of their life, need for a constant performing therapeutic measures and active clinic observation. In 2008 in the North-Caucasian Federal Region (NCFR), there was introduced the register of СF patients, in 2015 the data about patients residing in the Stavropol territory were sent for the introduction into the register of CF cases of the Russian Federation. The executed analysis showed the register of СF cases of the Russian Federation to be is insufficiently used in all NCFR regions, which makes impossible the processing of data about the special features of the course, the clinical manifestations, epidemiology, genetic inspection, microbiological monitoring and treatment of the disease in the region. The implemented analysis of the management of СF patients in NCFR, determines the need of creating the united regional center for the improvement of the centralized aid for considered patients.

scholarly journals Clinical and genetic features of cystic fibrosis patients with novel pathogenic variant CFTR c.1083G> A (p.Trp361*) and functional assessment of the activity of the chloride channel

2019 ◽  
pp. 9-18
Author(s):  
Е.И. Кондратьева ◽  
Ю.Л. Мельяновская ◽  
А.С. Ефремова ◽  
Н.В. Булатенко ◽  
Т.Б. Бухарова ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Russian Federation ◽  
Genetic Variant ◽  
Clinical Manifestations ◽  
Pathogenic Variant ◽  
Cftr Gene ◽  
Genetic Characteristics ◽  
Intestinal Organoids ◽  
The Russian Federation ◽  
First Time

В статье впервые представляется клинико-генетическая характеристика мутации c.1083G>A (p.Trp361*) в гене CFTR. Патогенный генетический вариант c.1083G>A (p.Trp361*) гена CFTR относится к нонсенс-мутациям (I класс) и впервые был внесён в базу данных CFTR1 (http://www.genet.sickkids.on.ca) в середине 2019 г. без описания клинической картины муковисцидоза. Методы. Проведен анализ амбулаторных карт и историй болезни двух пациентов из неродственных семей с редким генетическим вариантом c.1083G>A (p.Trp361*). Для определения разности кишечных потенциалов (ОРКП) и проведения форсколинового теста на кишечных органоидах использовали биопсийный материал слизистой прямой кишки пациентов. ДНК для секвенирования выделяли из лейкоцитов венозной крови пациентов. Результаты. Анализ клинических проявлений заболевания у детей 6 и 9 лет показал наличие хронической панкреатической недостаточности, более выраженной у одного ребенка с синдромом дистальной интестинальной обструкции кишечника в анамнезе. Клиническая картина второго пациента характеризовалась развитием в раннем возрасте транзиторной гипербилирубинемии, синдрома псевдо-Барттера, а в дальнейшем - повторными эпизодами бронхиальной обструкции и развитием полипозного риносинусита. ОРКП и форсколиновый тест на кишечных органоидах показали, что генетический вариант c.1083G>A (p.Trp361*) относится к вариантам гена CFTR с отсутствием функции хлорного канала. Выводы. Впервые представлены описание клинической картины муковисцидоза у двух пациентов из неродственных семей с патогенным вариантом c.1083G>A (p.Trp361*) в компаунде с вариантом c.1521_1523delCTT (p.Phe508del) (ранее называемом F508del) и результаты оценки функции белка CFTR методом ОРКП и форсколиновым тестом на кишечных органоидах. In this article we continue to describe the pathogenic variants of the CFTR gene identified among Russian cystic fibrosis (CF) patients. For the first time the clinical and genetic characteristics of the mutation c.1083G> A (p.Trp361 *) are presented. The pathogenic genetic variant c.1083G> A (p.Trp361 *) of the CFTR gene belongs to the nonsense mutations (class I) and was listed for the first time in the CFTR1 database (http://www.genet.sickkids.on.ca) by Professor Milan Macek et al. in mid-2019 without any description of clinical manifestations of cystic fibrosis. Methods. The data of the National Register of Patients with Cystic Fibrosis of the Russian Federation 2017 were analyzed. Outpatient records and case histories of two patients from unrelated families carrying a rare genetic variant c.1083G> A (p.Trp361 *) were analyzed. To determine the Intestinal current measurement (ICM) and Forskolin-induced swelling (FIS) in intestinal organoids, rectal biopsy material of CF patients was used. DNA for sequencing was isolated from leukocytes of venous blood of the patients. Results. Variant c.1083G> A (p.Trp361 *) was found in two patients from unrelated families from different regions of the Russian Federation, according to the Register of Cystic Fibrosis Patients in the Russian Federation 2017. Analysis of clinical manifestations of the disease in children 6 and 9 years old showed the presence of chronic pancreatic insufficiency, more expressed in one child with a history of distal intestinal obstruction syndrome. The clinical manifestation of the second patient was characterized by the development of transient hyperbilirubinemia, Pseudo-Bartter’s syndrome at an early age, and subsequently repeated episodes of bronchial obstruction and the development of polypoid rhinosinusitis. The ICM method and the FIS in intestinal organoids showed that the genetic variant c.1083G> A (p.Trp361 *) refers to the variants of the CFTR gene with the absence of chlorine channel function. Conclusion. The clinical picture of cystic fibrosis in two patients from unrelated families with the pathogenic variant c.1083G> A (p.Trp361 *) in the compound with variant c.1521_1523delCTT (p.Phe508del) (variant legacy name F508del) and results of the evaluation of the CFTR protein functions, obtained by the method of ICM and using the FIS assay in intestinal organoids, are presented for the first time. Patients continue to be under the control in Russian CF centers.

scholarly journals Influence of Climatic and Geographical Factors of the Yamalo-Nenets Autonomous Okrug on the Health of Its Population (Review)

2021 ◽  
pp. 77-88
Author(s):  
Vladimir I. Korchin ◽  
◽  
Tatʼyana Ya. Korchina ◽  
Elena M. Ternikova ◽  
Lyudmila N. Bikbulatova ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Russian Federation ◽  
Human Body ◽  
Clinical Manifestations ◽  
The Arctic ◽  
The North ◽  
Stress Syndrome ◽  
Geographical Factors ◽  
The Russian Federation ◽  
Nenets Autonomous

The Yamalo-Nenets Autonomous Okrug (YNAO), located in the north of the Tyumen Region, is part of the Arctic zone of the Russian Federation. The severe climatic conditions impose a heavy strain on the human body, affect its functional systems and can lead to an early onset of health problems. Most researchers recognize the northern regions as an extreme habitat, where humans are exposed to a set of negative climatic factors, the proximity of the Arctic Ocean being of particular importance. All metabolic processes in the human body are closely linked with trace elements, and the elemental status of the population depends on the geochemical characteristics of the area of residence. It has been proven that the natural waters of the Tyumen Region are ultra-fresh with a low content of Ca and Mg, which may be a predictor of the development of many, primarily cardiovascular, diseases. Adaptive changes are manifested in “northern” metabolism – a new level of functioning of the bodyʼs key systems with hormonal and metabolic rearrangements – both in the indigenous population and in newcomers. What distinguishes the human body in the North is the formation of polar stress syndrome, which determines rapid restructuring of physiological parameters. This syndrome serves as the leading mechanism of the onset and development of diseases in the North. The negative effects of climatic and geographical factors on the human body act as a resolving factor that potentiates the clinical manifestations of pathological reactions. This is confirmed by the consistently higher rates of incidence and overall morbidity in the regions of the Far North, including YNAO, over many years compared with the figures for the Russian Federation. The basic component of polar stress syndrome is oxidative stress, which develops when the antioxidant stores are depleted during the bodyʼs adaptation to the extreme environmental conditions. It is oxidative stress that underlies the pathogenesis of more than 200 diseases, primarily cardiovascular, developing early and progressing rapidly.

Экологическое испытание гибрида огурца F1 Энеж 21 в открытом грунте

2018 ◽  
Author(s):  
L.A. Chistyakova ◽  
O.V. Baklanova ◽  
E.L. Makarova ◽  
Yu.V. Bortsova
Keyword(s):  
Russian Federation ◽  
High Potential ◽  
Moscow Region ◽  
North West ◽  
The North ◽  
Pickling Cucumber ◽  
West Central ◽  
Open Ground ◽  
Chuvash Republic ◽  
The Russian Federation

Приведены результаты испытания нового перспективного партенокарпического гибрида огурца корнишонного типа F1 Энеж 21, созданного селекционерами агрохолдинга «Поиск», в условиях открытого грунта в Северо-Западном, Центральном и Волго-Вятском регионах Российской Федерации: Костромская, Ярославская, Московская, Рязанская, Тульская область и Чувашская Республика. Высокие потенциальные возможности и адаптационные свойства гибрида F1 Энеж 21 наиболее значимо проявляются в Московской области (63,8 т/га), Чувашской Республике (39,4 т/га) и Рязанской области (31,2 т/га).The article presents the results of testing a new promising parthenocarpic pickling cucumber hybrid F1 Enezh 21, selected by the breedrs of the Agricultural holding «Poisk» in conditions of open ground in the North-West, Central and Volga-Vyatka regions of the Russian Federation: Kostroma, Yaroslavl, Moscow, Ryazan, Tula regions and the Chuvash Republic. The high potential and adaptation characteristic of the F1 Enezh 21 hybrid are most significantly presented in condition of the Moscow region (63.8 t / ha), the Chuvash Republic (39.4 t / ha) and the Ryazan region (31.2 t / ha).

ОЦЕНКА ПЕРСПЕКТИВ ПОЛИТИЧЕСКОГО БУДУЩЕГО РОССИЙСКОЙ МОЛОДЕЖЬЮ

2020 ◽  
Vol 14 (4) ◽  
pp. 28
Author(s):  
O. V. Lagutin ◽  
E. O. Negrov
Keyword(s):  
Russian Federation ◽  
Political Process ◽  
The Political ◽  
Youth Organizations ◽  
Significant Group ◽  
North West ◽  
Youth Leaders ◽  
The North ◽  
Rfbr Grant ◽  
The Russian Federation

The article deals with the assessment of the prospects of the political future by representatives of Russian youth. The text of the article has been prepared within the framework of the project “Potential of Youth Political Leadership in The Course of Political Socialization and Circulation of Elites in the Russia Regions in the 2010s (using the example of South-Western Siberia and the North-West of the Russian Federation), RFBR grant No. 18-011-01184. The relevance of the research is in combining a fundamental review of the main directions of research of the role of youth participation in the social and political process and the involvement of a specific empirical study conducted in the spring of 2019, which allows highlighting various aspects of the situation. The empirical part of the study is based on the study “Ideas of Youth about Possibilities of Youth Leaders and Youth Organizations in Russia”, which was conducted in spring 2019 in four constituent entities of the Russian Federation — Altai Territory, Leningrad and Novosibirsk Regions and St. Petersburg. The method of research was a personal standardized interview, the sample size was 1000 respondents (250 in each of the regions), representatives of young people aged 14 to 30 permanently reside in the territory of the studied subjects of the federation. Based on factor and cluster analyzes, the main models of expectations of the political future are presented. The article should be of interest to researchers, both professionally involved, and simply interested in the topic of the influence of the real political process on such a significant group of the population as youth.

WS02.3 Liver cirrhosis and transplantation in cystic fibrosis in the Russian Federation

2021 ◽  
Vol 20 ◽  
pp. S4
Author(s):  
E. Zhekaite ◽  
E. Kondratyeva ◽  
A. Voronkova ◽  
V. Sherman ◽  
T. Dzhanbekov ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Liver Cirrhosis ◽  
Russian Federation ◽  
The Russian Federation

Molecular Epidemiological Monitoring of Circulation of Coxsackievirus A10

2021 ◽  
pp. 43-49
Author(s):  
LN Golitsyna ◽  
VV Zverev ◽  
NV Ponomareva ◽  
NI Romanenkova ◽  
Thao Thanh Thi Nguyen ◽  
...  
Keyword(s):  
Russian Federation ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Foot And Mouth Disease ◽  
Sewage Water ◽  
Epidemiological Surveillance ◽  
Molecular Monitoring ◽  
South Vietnam ◽  
Epidemiological Monitoring ◽  
The Russian Federation

Background: Coxsackievirus A10 (CV-A10) is currently one of the most common etiological agents of enterovirus infection (EVI). Over the past decade, severe and fatal cases of CV-A10 infection have become more frequent while clinical manifestations of the disease are similar to those of Enterovirus A71 infection. The objective of our study was to characterize circulation of Coxsackievirus A10 in the Russian Federation in 2008–2019 and to study the phylogenetic relationships of strains isolated in Russia and Vietnam. Materials and methods: In 2008–2019, 220 CV-A10 strains were isolated from patients with various clinical manifestations of EVI and from sewage water samples taken in the Russian Federation and then studied using molecular genetic methods. In addition to that, we analyzed 26 CV-A10 strains isolated from patients with hand, foot, and mouth disease (HFMD) and acute flaccid paralysis in South Vietnam in 2018–2019. Results: We established a two-year periodicity of CV-A10 active circulation in Russia. In the structure of clinical forms of CV-A10 infection, herpetic angina prevailed (30.8 %), followed by minor illness (25.25 %), respiratory diseases (15.66 %), exanthema (14.65 %), gastrointestinal disorders (8.08 %), and asymptomatic infections (2.02 %). Symptoms of CNS damage (meningitis, meningoencephalitis) were observed in 3.53 % of cases. Most CV-A10 strains from Vietnam were isolated from patients with CNS affection of varying degrees of severity. During the study period, CV-A10 strains of genotypes C, E, and F3 circulated in the territory of the Russian Federation whereas the strains from South Vietnam were represented by genotypes F3 and F1. The studied strains showed a genetic relationship with those of CV-A10 circulating in different countries. Vietnamese and some Russian strains of the F3 genotype were genetically close to the strains isolated from severe cases. Conclusions: Molecular monitoring of CV-A10 circulation is an important component of the global epidemiological surveillance of EVI.

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