THE MOST MODERN DIAGNOSTIC TESTS AND TREATMENTS FOR CHARGE SYNDROME
Keywords:
Hall-Hittner syndrome, A-choan atresia, R-growth retardation, G-urogenital abnormalities.Abstract
CHARGE syndrome is a rare congenital disorder characterized by a pronounced clinical polymorphism. The cause of development is a genetic mutation CHD7. The name of the disease is an English abbreviation and reflects the main clinical symptoms: C-coloboma of the choroid, H-abnormalities of the heart and blood vessels, A-choan atresia, R-growth retardation, G-urogenital abnormalities, E-abnormalities of the hearing organ. The diagnosis is made based on the presence of clinical criteria and the detection of a mutation. Treatment consists of surgical correction of existing abnormalities and hormone replacement therapy.
References
1.Abdukodirova, S., Muradova, R., & Mamarizaev, I. (2024). PECULIARITIES OF USING POLYOXIDONIUM DRUG IN CHILDREN WITH CHRONIC OBSTRUCTIVE BRONCHITIS. Science and innovation, 3(D5), 213-219.
2.Xoliyorova, S., Tilyabov, M., & Pardayev, U. (2024). EXPLAINING THE BASIC CONCEPTS OF CHEMISTRY TO 7TH GRADE STUDENTS IN GENERAL SCHOOLS BASED ON STEAM. Modern Science and Research, 3(2), 362-365.
3.Шарипов, Р. Х., Расулова, Н. А., & Бурханова, Д. С. (2022). ЛЕЧЕНИЕ БРОНХООБСТРУКТИВНОГО СИНДРОМА У ДЕТЕЙ. ЖУРНАЛ ГЕПАТО-ГАСТРОЭНТЕРОЛОГИЧЕСКИХ ИССЛЕДОВАНИЙ, (SI-3).
4.Xayrullo o'g, P. U. B., & Rajabboyovna, K. X. (2024). Incorporating Real-World Applications into Chemistry Curriculum: Enhancing Relevance and Student Engagement. FAN VA TA'LIM INTEGRATSIYASI (INTEGRATION OF SCIENCE AND EDUCATION), 1(3), 44-49.
5.Xayrullo o'g, P. U. B., Jasur o‘g‘li, X. H., & Umurzokovich, T. M. (2024). The importance of improving chemistry education based on the STEAM approach. FAN VA TA'LIM INTEGRATSIYASI (INTEGRATION OF SCIENCE AND EDUCATION), 1(3), 56-62.
6.Xayrullo o'g, P. U. B., & Umurzokovich, T. M. (2024). Inquiry-Based Learning in Chemistry Education: Exploring its Effectiveness and Implementation Strategies. FAN VA TA'LIM INTEGRATSIYASI (INTEGRATION OF SCIENCE AND EDUCATION), 1(3), 74-79.
7.Ахмедова, М., Расулова, Н., & Абдуллаев, Х. (2016). Изучение парциальных функций почек у детей раннего возраста с нефропатией обменного генеза. Журнал проблемы биологии и медицины, (2 (87)), 37-40.
8.Jumabaevna, K. A., & Kurbanbaevna, B. E. (2022, November). INTERDISCIPLINARITY OF CHEMISTRY AT SCHOOL THE IMPORTANCE OF TEACHING THROUGH. In Proceedings of International Conference on Modern Science and Scientific Studies (Vol. 1, No. 2, pp. 166-169).
9.Расулова, Н. А. (2010). Многофакторная оценка нарушений фосфорно-кальциевого обмена в прогнозировании и предупреждении последствий рахита. Автореферат дисс…. канд мед. наук. Ташкент, 19.
10.Kurbanbaeva, А. D. (2023). THE EDUCATIONAL VALUE OF TRADITIONS OF TEACHING YOUNG PEOPLE TO MAINTAIN HEALTH IN KARAKALPAK FOLK PEDAGOGY. Евразийский журнал социальных наук, философии и культуры, 3(3), 122-125.
11.Расулова, Н. А. (2009). Клиническая значимость факторов риска развития рахита у детей. Врач-аспирант, 34(7), 567-571.
12.Kurbanbayeva, A. Z., Elmuradov, B. Z., Bozorov, K. A., Berdambetova, G. E., & Shakhidoyatov, K. M. (2011). Improvement of a method of synthesis 2Н-5, 6-dimethylthieno [2, 3-d] pyrimidin-4-one, in book “Materials VII-Republican conference of young chemists. Problems of bioorganic chemistry», Namangan, Uzbekistan, 6.
13.Ахмедова, М. М., Шарипов, Р. Х., & Расулова, Н. А. (2015). Дизметаболическая нефропатия. Учебно-методическая рекомендация. Самарканд, 26.
14.Khaitovich, S. R., & Alisherovna, R. N. (2022). JUSTIFICATION OF THE NEED FOR CORRECTION OF NEUROLOGICAL DISORDERS IN THE TREATMENT OF RESPIRATORY DISEASES IN CHILDREN. British View, 7(1).
15.Kurbanbayeva, A. J. (2023). The educational value of surgical methods in maintaining health formed in the experiences of the Karakalpak people. Journal of Survey in Fisheries Sciences, 10(2S), 3670-3676.
16.Fedorovna, I. M., Kamildzhanovna, K. S., & Alisherovna, R. N. (2022). Modern ideas about recurrent bronchitis in children (literature review). Eurasian Research Bulletin, 6, 18-21.
