scholarly journals Organization of Medical Care and Drug Supply for Patients with Osteogenesis Imperfecta in the Republic of Bashkortostan

2016 ◽  
Vol 13 (5) ◽  
pp. 478-481
Author(s):  
A. A. Bakirov ◽  
N. I. Romanova ◽  
V. A. Malievskiy ◽  
O. A. Malievskiy ◽  
R. Z. Akhmetshin ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Medical Care ◽  
Drug Supply ◽  
Republic Of Bashkortostan ◽  
The Republic

scholarly journals Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 124
Author(s):  
Dina Nadyrshina ◽  
Aliya Zaripova ◽  
Anton Tyurin ◽  
Ildar Minniakhmetov ◽  
Ekaterina Zakharova ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bone Fragility ◽  
Molecular Architecture ◽  
Inherited Disease ◽  
Republic Of Bashkortostan ◽  
The Republic

Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2, and 1 mutation in P3H1 and IFIMT5 genes were found in isolated states; 11 of them were not previously reported in literature. We found mutations in CLCN7, ALOX12B, PLEKHM1, ERCC4, ARSB, PTH1R, and TGFB1 that were not associated with OI pathogenesis in patients with increased bone fragility. Additionally, we found combined mutations (c.2869C>T, p. Gln957* in COL1A1 and c.1197+5G>A in COL1A2; c.579delT, p. Gly194fs in COL1A1 and c.1197+5G>A in COL1A2; c.2971G>C, p. Gly991Arg in COL1A2 and с.212G>C, p.Ser71Thr in FGF23; c.-14C>T in IFITM5 and c.1903C>T, p. Arg635* in LAMB3) in 4 patients with typical OI clinic phenotypes.

scholarly journals Forms and Methods of Providing Prompt Medical Care

2020 ◽  
pp. 105-108
Author(s):  
Elvira Zinurovna Sakaeva
Keyword(s):  
Public Health ◽  
Medical Care ◽  
Chronic Diseases ◽  
Human Life ◽  
Organizational System ◽  
Republic Of Bashkortostan ◽  
The Republic

The author presents an organizational system of federal, regional, municipal and market services aimed at providing prompt medical care as a way to achieve the preservation of public health in case of sudden acute diseases, conditions, exacerbation of chronic diseases that pose a threat to human life or without obvious signs of a threat to human life. Methods of providing prompt medical care are analyzed on the example of the Republic of Bashkortostan.

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.

The identification of mutations in patients with osteogenesis imperfecta from the Republic of Bashkortostan.

Biomics ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 460-463
Author(s):  
A.R. Zaripova ◽  
R.I. Khusainova
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Frame Shift ◽  
Pathogenic Mutations ◽  
Republic Of Bashkortostan ◽  
The Republic

A molecular genetic study of osteogenesis imperfecta in 103 burdened families was carried out. 9 types of pathogenic mutations were identified in 12 patients in the COL1A1, COL1A2 and IFITM5 genes: 2 duplications, 1 deletion, 2 nonsense, 3 missense, 1 frame shift.

scholarly journals EXPERIENCЕ OF ORGANIZATION OF REHABILITATION TO COMBATANTS AT THE MEDICAL CARE UNIT OF THE MINISTRY OF INTERNAL AFFAIRS IN THE REPUBLIC OF BASHKORTOSTAN

2017 ◽  
Vol 10 (4) ◽  
pp. 47-52
Author(s):  
OLEG R. NAUSHIRVANOV ◽  
◽  
MARAT M. FAZLYEV ◽  
RUSTEM KH. NIGMATULLIN ◽  
ZEMFIR Z. KUTUEV ◽  
...  
Keyword(s):  
Medical Care ◽  
Republic Of Bashkortostan ◽  
Internal Affairs ◽  
The Republic

The dynamics of demographic indices in the Republic of Bashkortostan

2020 ◽  
Vol 28 (4) ◽  
Author(s):  
Victorov V. V. ◽  
◽  
Sharafutdinov M. A. ◽  
Mukhamadeeva O. R. ◽  
Pavlova M. Yu. ◽  
...  
Keyword(s):  
Republic Of Bashkortostan ◽  
Demographic Indices ◽  
The Republic
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