Bayarmagnai, Uranchimeg
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Bayarmagnai, Uranchimeg
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Bayarmagnai Uranchimeg
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Bayarmagnai Uranchimeg
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Item type:Publication, Quality of Life and Its Associated Factors among Caregivers of Down Syndrome Children(Mongolian National University of Medical Sciences, 2018-09-25); ; ; Objectives: According to the definition by WHO, the quality of life (QoL) is determined by self-evaluation in the community depending on the people’s goal, expectation and standards and the QoL is a result with positive and negative assessments to be measured by the individual aspects. QoL among caregivers of Down syndrome children is not well studied in many developing countries including Mongolia. The aim the study was to evaluate quality of life and its associated factors among caregivers of Down syndrome children. Methods: A community based, cross-sectional study was conducted among 70 caregivers of children with Down syndrome in Ulaanbaatar, Mongolia. Data on QoL was assessed by WHOQOL-BREF questionnaire. Results: About 40% of caregivers considered their QoL good and 54.3% of them considered their health as satisfactory. The mean value of four domains of QoL were slightly different but not statistically (p>0.05). Conclusion: Out of socio-economic indicators, caregivers’ gender, educational level, family income, marital status, number of family members and chronic illnesses of parents and children’s ages have a huge impact on QoL of caregivers. Additionally, environmental self-assessment was directly correlated with assessment of physical health, mental health, and social relation. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, GATA1 Gene Polymorphisms in Down Syndrome Patients(Mongolian National University of Medical Sciences, 2017-06-25); ; ; Objectives: Down syndrome (DS) patients have a 500 fold higher possibility of developing acute megakaryoblastic leukemia (AMKL), compared with the general population. GATA1 mutations, acquired in the early prenatal stages, contributes to leukemogenesis in AMKL and has been the explanation for the cause of early hematopoietic disorders. The aim of this study was to investigate the influence of GATA1 gene polymorphisms in patients with DS. Methods: Thirty-nine DS patients, aged ≤ 4 years, were recruited into the study. GATA1 gene polymorphisms were identified by unidirectional deep sequencing. Results: GATA1 gene polymorphisms were identified in four patients: proband-11 had GATA1 gene polymorphism, NP_002040.1:p.His71Arg (rs374300356); proband-17 had NP_002040.1:p. Tyr69Cys; proband-19 had NP_002040.1:p.Lys100Arg; and proband-20 had NP_002040.1:p. Tyr69Cys. Analyzing these GATA1 gene polymorphisms with 14 different software programs to evaluate its pathogenicity showed that NP_002040.1:p.His71Arg had damaging effects on GATA1 gene function. Conclusion: We identified four GATA1 gene polymorphisms in this cohort of 39 patients. The polymorphism identified in proband-11 (NP_002040.1:p.His71Arg) has possible damaging effects on gene regulation, and thus, we recommend routine clinical examination in this patient. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, KIMURA’S DISEASE: Presenting as unilateral parotid mass(Mongolian National University of Medical Sciences, 2023-09-30); ; ; Objectives: Kimura’s disease (KD), or eosinophilic lymphogranuloma, is a rare chronic inflammatory condition with unclear etiology. We aim to present our experience with this condition and review the available literature. Methods: This report depicts a pathologically proven case of KD in a 44-year-old man with gradually increased swelling in his left parotid region for the past year, which was painless, and pruritus. Results: This report depicts a pathologically proven case of KD in a 44-year-old man with gradually increased swelling in his left parotid region for the past year, which was painless, and pruritus. Conclusion: This report depicts a pathologically proven case of KD in a 44-year-old man with gradually increased swelling in his left parotid region for the past year, which was painless, and pruritus.