scholarly journals Clinical genetic analysis of myotonia dystrophica in the republic of bashkortostan

1997 ◽  
Vol XXIX (1-2) ◽  
pp. 78-80
Author(s):  
R. V. Magzhanov ◽  
L. R. Akhmadeeva ◽  
Е. К. Khusnutdinova ◽  
V. F. Tunik ◽  
R. I. Fatkhlislamova ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Data Bank ◽  
Genetic Characteristic ◽  
Clinical Genetic ◽  
Computer Data ◽  
Republic Of Bashkortostan ◽  
The Republic ◽  
Myotonia Dystrophica ◽  
First Time

In the Republic of Bashkortostan computer data bank on myotonia dystrophica (MD) was created where information on all diagnosed patients and members of their families was entered. For the first time in the republic qualitative molecular genetic RNA-diagnosis of MD started, with the help of which one phenotypically healthy mutation carrier is revealed. Clinical genetic characteristic of MD in Bashkortostan and main subpopulation of the republic is presented. Besides neuromuscular symptoms cerebral and extraneural symptoms are analyzed.

Clinical and molecular genetic analysis of a case of familial multiple sclerosis in the Republic of Bashkortostan

2017 ◽  
Vol 117 (2. Vyp. 2) ◽  
pp. 31 ◽  
Author(s):  
O. V. Zaplakhova ◽  
Ya. R. Timasheva ◽  
K. Z. Bakhtiyarova ◽  
I. A. Tuktarova ◽  
O. E. Mustafina
Keyword(s):  
Multiple Sclerosis ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Republic Of Bashkortostan ◽  
The Republic

scholarly journals The degree analysis of hydrobionts response to the content of chemicals in the water of the upper and middle reaches of the Belaya River (Republic of Bashkortostan)

2018 ◽  
Vol 7 (4) ◽  
pp. 144-152
Author(s):  
Boris Yuryevich Chaus
Keyword(s):  
Natural Waters ◽  
Anthropogenic Pollution ◽  
Hydrochemical Parameters ◽  
Republic Of Bashkortostan ◽  
Invertebrate Animals ◽  
State Water ◽  
The Republic ◽  
First Time ◽  
Reliable Correlation ◽  
Water Vegetation

The paper deals with the analysis of bioindicator opportunities of hydrobionts of various systematic categories that helps to assess and forecast anthropogenic pollution of the Belaya River (the top and average currents) during environmental monitoring of natural waters of the Republic of Bashkortostan. Hydrobionts were collected and the occurrence analysis (in unit shares) of 30 species of invertebrate animals from groups Pyramidelloida, Littorinimorpha, Pulmonata, Plecoptera, Ephemeroptera, Trichoptera and 12 species of the highest water vegetation was carried out from 2005 to 2017 in regions of 10 state water posts on the Belaya River. The data from annual State reports on the average annual content of compounds of manganese, nickel and iron, oil products, phenols, nitrogen ammoniyny, copper and zincum were used as hydrochemical parameters during the research. The reliable correlation between some water organisms with chemicals and their connections was defined in the water of the Belaya River. The author also constructs for the first time an indicator range of hydrobionts on decrease extent in their response to the chemicals content in the studied water. Similar approach can be used for recommendations development about the use of biological analyses while identifying the chemicals influencing water fauna and flora.

scholarly journals Genetic architecture of osteogenesis imperfecta in the Republic of Bashkortostan

2020 ◽  
pp. 57-58
Author(s):  
А.Р. Зарипова ◽  
И.Р. Минниахметов ◽  
Р.И. Хусаинова ◽  
А.В. Тюрин ◽  
Н.А. Скрябин ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Genetic Architecture ◽  
Genetic Correlations ◽  
Hereditary Disease ◽  
Clinical Form ◽  
Clinical Genetic ◽  
Genetic Changes ◽  
Republic Of Bashkortostan ◽  
The Republic

Несовершенный остеогенез (НО) (МКБ-10: Q78.0, несовершенный остеогенез) - клинически и генетически гетерогенное наследственное заболевание соединительной ткани, в основе которого лежат генетические изменения, приводящие к нарушению структуры костной ткани. Идентифицирован 21 ген, вовлеченный в патогенез НО, но пока не выяснена степень генетической гетерогенности заболевания. Целью исследования являются поиск молекулярной причины НО и определение типа наследования и клинической формы заболевания на основе анализа клинико-генетических корреляций. Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous hereditary disease of the connective tissue, which is based on genetic changes leading to a violation of the structure of bone tissue. 21 genes are involved in the pathogenesis of OI have been identified, but the degree of genetic heterogeneity of the disease has not yet been clarified. The aim of the study is to search for the molecular cause of OI and determine the type of inheritance and the clinical form of the disease based on the analysis of clinical genetic correlations.

BLV early diagnosis - key to successful farm recovery

2020 ◽  
pp. 8-12
Author(s):  
Anatoliy M. Kovalenko ◽  
◽  
Nazar V. Yavnikov ◽  
Maksim V. Petropavlovskiy ◽  
Albina G. Isaeva ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Infectious Diseases ◽  
Leukemia Virus ◽  
Molecular Genetic ◽  
Polymerase Chain Reaction Method ◽  
Agricultural Enterprises ◽  
Republic Of Bashkortostan ◽  
Serological Studies ◽  
Monitoring And Forecasting ◽  
The Republic

The aim of the research is to use the early diagnosis of cattle leukemia virus-infected animals using serological and molecular genetic methods, as well as to determine the significance of PCR in detecting BLV infected calves. The studies were carried out in the leukemia laboratory of the department for monitoring and forecasting of infectious diseases of the Ural Federal Agrarian Research Center, at the department of infectious and invasive pathology of the Belgorod State Agrarian University named after V.Ya. Gorin, as well as in 20 livestock agricultural enterprises of the Tyumen, Chelyabinsk, Kurgan, Belgorod regions and the Republic of Bashkortostan. The studies were carried out in the framework of the 160th direction of the FNI Program of State Academies of Sciences for 20132020 on the topic «Development of theoretical foundations for the creation and implementation of a monitoring, diagnostic, treatment and wellness program for the protection of animals from epizootically significant infectious diseases» The system of anti-leukemic health measures using complex serological and hematological testing helps to reduce the number of RID+ animals and hematologically sick individuals for a 6-month period by 32.0% and 6.28%, respectively. The use of the polymerase chain reaction method contributes to the detection of an additional 18 to 39% of calves from 15 days of age, infected with the virus of bovine leukemia, in dysfunctional leukemia livestock enterprises. In a PCR study of cows, 29% to 54% of individuals infected with BLV can be detected. This indicates the need for consistent use of serological studies and the importance of molecular genetic tests for the detection of BLV infected calves.

scholarly journals Molecular-genetic characterization of the human non-hypervariable GC-rich minisatellite UPS29 of gene CENTB5

2007 ◽  
Vol 5 (3) ◽  
pp. 35-45 ◽  
Author(s):  
Irina O Suchkova ◽  
Daria M Shubina ◽  
Ludmila K Sasina ◽  
Natalia O Slominska ◽  
Vadim B Vasilyev ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
In Silico ◽  
Genetic Characterization ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
First Time ◽  
Molecular Genetic Characterization

Human minisatellite UPS29 localized in one of CENTB5 introns was studied in silico and using molecular genetic analysis. For the first time there were revealed seven UPS29 alleles which contained 6-24 repeated units. Allele consisting of 17 repeats was prevailed (91,5 %). Frequency of other alleles varied from 0,29 % to 4,39 %. UPS29 heterozygosity was 12,3 %. Minisatellite UPS29 was classified as low polymorphic and non hypervariable.

COVID-19 as a reason for changing the structure of occupational pathology in the Republic of Bashkortostan

2021 ◽  
pp. 33-39
Author(s):  
Elvira Timeryanovna Valeeva ◽  
Elmira Radikovna Shaikhlislamova ◽  
Akhat Barievich Bakirov ◽  
Venera Talgatovna Akhmetshina
Keyword(s):  
Social Services ◽  
Biological Factor ◽  
Sharp Change ◽  
Health And Social Services ◽  
Republic Of Bashkortostan ◽  
Leading Position ◽  
Coronavirus Infection ◽  
The Republic ◽  
First Time ◽  
Statistical Indicators

COVID-19 coronavirus infection as a new disease of the professional etiology of medical workers has led to a sharp change in the statistical indicators and the structure of occupational morbidity. Materials and methods. The etiological and nosological structure of occupational morbidity in the Republic of Bashkortostan for 2020 was studied. Results. In the studied year, section Q «Health and social services» accounted for the highest proportion of primary occupational diseases registered in the republic — 54.8 %. For the first time in all the years of observation, there was a change in the structure of occupational pathology due to the appearance of a new occupational disease — a new coronavirus infection, which brought the group of diseases from the influence of the industrial biological factor to a leading position. The complex epidemiological situation caused a sharp decline in the diagnosis of other forms of occupational pathology.

scholarly journals The Involvement of Heavy Metals in the Main Trophic Chains in Agrophytocenoses of the Sterlitamak Region of the Republic of Bashkortostan

2018 ◽  
Vol 7 (4.38) ◽  
pp. 755
Author(s):  
V. M. Zubkova ◽  
A. V. Gaponenko ◽  
N. Yu. Belozubova ◽  
V. V. Reutskaya ◽  
E. R. Khanipova
Keyword(s):  
Heavy Metals ◽  
Ecological Assessment ◽  
Agricultural Products ◽  
Background Concentrations ◽  
Annual Average ◽  
Synergistic Interactions ◽  
Republic Of Bashkortostan ◽  
Trophic Chains ◽  
The Republic ◽  
First Time

The work was aimed at evaluating the involvement of heavy metals in the biogeochemical cycle in the soil-plant system in the setting of agrophytocenoses. The elemental composition of soil and plants was determined by atomic absorption. The sanitary-hygienic and ecological assessment of the condition of soils and plants in the region by heavy metals content has been provided for the first time; for individual items, the health risk of soil contamination and used agricultural products has been assessed.For the first time, background concentrations of priority pollutants in the soil and plants have been found at different sites from contamination sources; the annual average volumes of removal of Cd, Pb, Zn, Cu, Ni, Cr, and Mn from the soil have been established; the antagonistic-synergistic interactions have been revealed at the introduction of macro- and microelements into plants.  

scholarly journals Application of geoinformation technologies and remote sensing of the Earth to assess the impact of aridity of the territory on the water quality of small rivers

2021 ◽  
Vol 100 (10) ◽  
pp. 1052-1059
Author(s):  
Anton V. Kosarev ◽  
Dmitriy E. Ivanov ◽  
Anatoliy N. Mikerov ◽  
Kseniya A. Savina ◽  
Timur K. Valeev ◽  
...  
Keyword(s):  
Remote Sensing ◽  
Drinking Water ◽  
Arid Regions ◽  
Small Rivers ◽  
Saratov Region ◽  
The Earth ◽  
Republic Of Bashkortostan ◽  
The Republic ◽  
The Impact ◽  
First Time

Introduction. The relevance of the work for preventive medicine is due to the need to assess the impact of climate aridity on the hygienic safety of drinking water. The aim of the work is to determine the influence of the degree of aridity of the arid regions of Russia on the hygienic safety of drinking water prepared from surface water sources. Materials and methods. The objects of the study are the water of small rivers located in the arid regions of the Saratov Region and the Republic of Bashkortostan. The content of pollutants in water was determined by atomic absorption spectrometry, spectrophotometry, and potentiometry. Satellite images for the implementation of remote sensing of the Earth are obtained in the geoinformation catalogue earthexplorer.usgs.gov. Image processing and mapping of the studied territories was carried out using the QGIS program, version 3.12.3. Results. Using the method of remote sensing of the Earth, it was revealed for the first time that the low-arid regions of the Republic of Bashkortostan correspond to positive NDMI values. In contrast, the areas of the Saratov region are characterized by negative NDMI values. For the first time, a statistically significant correlation has been established between the hygienic hazard caused by polluting chemicals in water, typical for arid territories and the change in the aridity index NDMI. Biogenic nitrogen, iron, and manganese make the most significant contribution to the formation of the non-carcinogenic danger of small river waters in the conditions of climate warming. Conclusion. We have shown for the first time using the remote sensing method of the Earth that low-arid regions of the Republic of Bashkortostan correspond to low positive values of the aridity index NDMI than for the areas of the Saratov region characterized by negative NDMI values. For the first time, a correlation was established between an increase in the degree of aridity of arid areas of Russia and an increase in non-carcinogenic health risk due to the use of drinking water prepared from surface water sources.

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