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 Osteogenesis imperfecta: a case report

2014 ◽  
Vol 43 (1) ◽  
pp. 30-32
Author(s):  
Ratu Rumana Binte Rahman ◽  
Shamasunnahar Begum
Keyword(s):  
Osteogenesis Imperfecta ◽  
Pulmonary Hypoplasia ◽  
Bone Fragility ◽  
Lower Limbs ◽  
Inherited Disease ◽  
Multiple Fractures ◽  
X Ray ◽  
Medical College ◽  
Minimal Trauma ◽  
Hallmark Feature

Osteogenesis Imperfecta is a inherited disease of connective tissue. Its hallmark feature is bone fragility with a tendency to fracture from minimal trauma or from the work of bearing weight against gravity. The disorder may occur in one out of 20,000 to one out of 60,000 live births, affecting both male and female of all races. We present a 38 year lady who gave birth to baby with osteogenesis imperfecta in Sir Salimullah Medical College & Mitford Hospital, Dhaka. Both lower limbs appeared shortened with thick musculo-cutaneous folds. Both the femoral shafts were shortened, deformed and fragmented. Both the humeral and fibular shafts were deformed and the presentation was breech. Her sclerae was blue. X-ray showed multiple fractures in humerus, femur and ribs and also right sided pulmonary hypoplasia. DOI: http://dx.doi.org/10.3329/bmj.v43i1.21376 Bangladesh Med J. 2014 January; 43 (1): 30-32

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 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

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

Irrigation regime and water consumption of potatoes in the Republic of Bashkortostan, depending on the reclamation condition of lands

2020 ◽  
Vol 0 (6) ◽  
pp. 13-19
Author(s):  
Guzel Gumerova ◽  
Georgiy Gulyuk ◽  
Dmitry Kucher ◽  
Anatoly Shuravilin ◽  
Elena Piven
Keyword(s):  
Water Consumption ◽  
Weather Conditions ◽  
Growing Season ◽  
Vegetation Period ◽  
Forest Steppe ◽  
Total Water ◽  
Total Water Consumption ◽  
Republic Of Bashkortostan ◽  
Irrigated Lands ◽  
The Republic

Data of long-term researches (2015–2018) in southern forest-steppe zone of the Republic of Bashkortostan, is justified theoretically and experimentally the mode of irrigation of potatoes on leached chernozems of unsatisfactory, satisfactory and good ameliorative condition of irrigated lands. For the growing periods of potatoes with different heat and moisture supply, the number of watering, the timing of their implementation, irrigation and irrigation norms are established. On lands with unsatisfactory meliorative state the number of irrigation depending on weather conditions of potato vegetation period varied from 0 to 3 (1.5 on average) with average irrigation norm – 990 m3/ha. With satisfactory meliorative state of lands the number of irrigation on average increased from 0 to 4 (2.3 on average) with irrigation norm – 1305 m3/ha. On lands with good meliorative state the number of irrigation was the highest – from 1 to 5 (3 on average) with average irrigation irrigation norm is 1653 m3/ha. It was noted that in the dry periods of potato vegetation the greatest number of watering was carried out (3–5 watering), and in the wet periods (2017) watering was not carried out except for the area with a good reclamation state, where only one irrigation was carried out by the norm of 550 m3/ha. Water consumption of potato was studied in dynamics as a whole during the growing season and the months of the growing season depending on weather conditions of vegetation period and land reclamation condition of irrigated lands, as well as in the control (without irrigation). The lowest total water consumption was in the area without irrigation and averaged 226.8 mm. In irrigated areas, its values increased to 319-353.4 mm. The average daily water consumption varied from 2.12 to 3.3 mm. The highest rates of potato water consumption were observed in June and July, and the lowest – in May and August. In the total water consumption of potatoes on the site without irrigation, the largest share was occupied by atmospheric precipitation and in addition to them the arrival of moisture from the soil. Irrigation water was used in irrigated areas along with precipitation, the share of which was 30.2–46.1 %.

Hygienic assessment of learning environment conditions (by the example of higher educational institutions of the city of Ufa)

2020 ◽  
Vol 99 (4) ◽  
pp. 405-411
Author(s):  
Elena Ju. Gorbatkova
Keyword(s):  
Ionizing Radiation ◽  
Educational Institutions ◽  
Higher Educational Institutions ◽  
Factors Affecting ◽  
Republic Of Bashkortostan ◽  
Average Relative Humidity ◽  
Higher Educational ◽  
The Republic ◽  
And Performance ◽  
The City

Introduction. The important factors affecting health and performance of young people are the conditions of education, in particular, a comfortable microclimate in the classrooms of higher educational institutions. Materials and methods. In view of the urgency of this problem, an analysis was made of the microclimate parameters of educational organizations of different profiles (Ufa city, the Republic of Bashkortostan). 294 classrooms were studied in 22 buildings of 4 leading universities in Ufa. A total of 3,822 measurements were taken to determine the parameters of the microclimate. The analysis of ionizing radiation in the aerial environment of classrooms. There was performed determination of radon and its affiliated products content. In order to assess the conditions and lifestyle of students of 4 higher educational institutions of the city of Ufa, we conducted an anonymous survey of 1,820 students of I and IV years of education. Results. The average temperature in the classrooms of all universities studied was 23.9±0.09 C. The average relative humidity in all classrooms was 34.2 ± 0.42%. Analysis of ionizing radiation (radon and its daughter products decay) in the aerial environment of the classrooms and sports halls located in the basement determined that the average annual equivalent equilibrium volumetric activity of the radon daughter products (EROA ± Δ222Rn) ranged from 28 ± 14 to 69 ± 34.5 meter, which meets the requirements established by SanPiN. Conclusion. The hygienic assessment of the microclimate parameters of educational institutions of various profile revealed a number of deviations from the regulated norms. The results indicate the need to control the parameters of the microclimate, both from the administration of universities, and from the professors. According to the results of the study, recommendations were prepared for the management of higher educational institutions in Ufa.

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