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Makhbal, Zaya

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Товч нэр
Makhbal, Zaya
Бүтэн нэр
Makhbal Zaya
Латин нэр
Makhbal Zaya
Албан тушаал
Судлаач
Харьяалал

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    Олон эмэнд тэсвэртэй сүрьеэг богино хугацааны горимоор эмчлүүлэгчдийн сонсголын бууралтыг судалсан дүн
    (2024-05-13)
    Л.Нямдулам
    ;
    М.Заяа
    ;
    Д.Доржмаа
    ;
    Д.Наранзул
    ;
    О.Баатархүү
    Үндэслэл: “Монгол улс дахь сүрьеэги н тархалт”-ын 2014-2015 оны судалгаагаар сүрьеэ өвчин 100’000 хүн амд 757 гэж мэдээлсэн байна. ДЭМБ нь 2016 оноос эхлэн ОЭТС-и н эмчилгээнд богино хугацааны горимыг хэрэглэхи г зөвлөсөн. Энэхүү горимд канамициныг тарилгаар хэрэглэхийг зөвлөсөн ба мана улсад 2017-2021 оны хооронд мөрдсөн. Аминогликозид (АГ) нь дотор чихний дунгийн гадна үслэг эси г гэмтээж сонсгол хордуулах нөлөө үзүүлдэг тул 2021 оноос ДЭМБ-аас зөвлөсний дагуу бедакулин эмийг уухаар хэрэглэж байна. Манай орны хувьд канамицин тариа ба бедакулин эмийг ОЭТС-ийн эмчилгээнд хэрэглэх явцад сонсгол буурах гаж нөлөөний талаар судалгаа хийгдээгүй байгаа нь энэхүү судалгааг хийх үндэслэл болсон. Зорилго: Олон эмэнд тэсвэртэ сүрьеэ өвчни г богино хугацааны горимоор эмчлүүлэгчди н сонсгол бууралтыг үнэлэхэд оршино. Арга, аргачлал: Бид дагах ба эргэмж когорт судалгааны аргаар 2020-2022 оны хооронд оношлогдсон олон эмэнд тэсвэртэй сүрьеэ өвчний эмчилгээнд канамицин тариулж, бедакулин уусан 2 бүлгийн эмчлүүлэгчдээс судалгаанд оруулах ба хасах шалгуурын дагуу сонгож, эмчилгээ эхлэхийн өмнө, 4 дэхь сард, эмчилгээний төгсгөлд сонсгол шалгах, цусны дэлгэрэнгүй шинжилгээ, биохимийн шинжилгээний зарим үзүүлэлтийг үзэж, SPSS IBM 23 программ ашиглан үр дүнг тооцов. Үр дүн: Судалгаанд хамрагдсан 23 эмчлүүлэгчдийн 17 нь канамицины бүлэгт (n-17), 6 нь бедакулины бүлэгт (n-6) байсан. Эмчилгээ эхлэхийн өмнө ба дараахь сонсголын босгын дундаж канамицины бүлэгт 16.29дБ байснаас 22.72дБ болж өссөн, бедакулины бүлэгт 17.14дБ байснаас 18.23дБ болж өссөн байна. Канамицины бүлгийн 10 (58.8%), бедакулины бүлгийн 4 (66.7%) эмчлүүлэгчид ототоксик нөлөө үүсэн ба хоёр бүлгийн харьцуулсан харьцааг (OR) тодорхойлоход канамицины бүлэг нь бедакулины бүлгээс 1.4 дахин их сонсгол бууруулах эрсдэлтэй байна (p=0.736). Нас (p утга=0.049) ба цусан дахь сахарын хэмжээ (p утга=0.002) нь сонсгол бууралтыг нэмэгдүүлэхэд нөлөөлж байна. Дүгнэлт: Канамицин ба бедакулин эм хоёулаа сонсгол бууралт үүсгэж байгаа ч канамицин нь илүү сонсгол бууралт үүсгэж байна. Нас ба цусан дахь сахарын хэмжээ сонсгол бууралтыг нэмэгдүүлэх хүчин зүйл болж байна.
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    Unnecessary magnetic resonance imaging is associated with diagnostic delay and financial burden in benign paroxysmal positional vertigo: a retrospective study in Mongolia
    (2026)
    Enkhtaivan, Delgerzaya
    ;
    Nam, Dong Woo
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    Erdenechuluun, Jargalkhuu
    ;
    Avirmed, Tovuudorj
    ;
    Makhbal, Zaya
    INTRODUCTION: This single-center, retrospective cohort study investigated the clinical characteristics, diagnostic pathways, and economic burden of benign paroxysmal positional vertigo (BPPV) at a national tertiary referral ENT hospital in Ulaanbaatar, Mongolia. METHODS: We analyzed 162 patients (mean age, 50.0 ± 11.7 years) with confirmed BPPV who completed follow-up between January 2019 and January 2021. Patients were treated with canalith repositioning procedures and instructed to perform self-maneuvers. The primary outcome was symptom resolution at 7, 14, and 28 days, and the secondary outcome was the change in Dizziness Handicap Inventory (DHI) scores. RESULTS: Results showed that 102 patients (62.5%) were referred from other hospitals, yet only 6 (3.7%) were correctly diagnosed prior to referral. Multivariate logistic regression identified no specific clinical symptoms predicting magnetic resonance imaging (MRI) usage, suggesting that neuroimaging was largely driven by patient-initiated demand in the private sector. The mean diagnostic delay was significantly longer in the MRI group (24.4 ± 19.5 days) compared to the non-MRI group (7.5 ± 5.9 days, p < 0.001). Cost analysis based on 2024 metrics revealed that a single potentially low-yield MRI consumes 72.0% of a minimum-wage worker's monthly income, creating a catastrophic financial burden. Treatment was highly effective, with resolution rates of 75.9, 93.8, and 99.4% at 7, 14, and 28 days, respectively. The mean DHI score improved significantly from 39.93 to 4.12 (p < 0.001). DISCUSSION: BPPV patients in Mongolia face significant diagnostic delays and high misdiagnosis rates. While standardized maneuvers are effective, the reliance on costly imaging highlights an urgent need for educational initiatives to improve awareness and primary care triage in developing countries.
    Scopus© Citations 1
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    Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization
    (2025-06)
    Gombojav, Bayasgalan
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    Erdenechuluun, Jargalkhuu
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    Batsaikhan, Tserendulam
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    Danshiitsoodol, Narandalai
    ;
    Makhbal, Zaya
    Waardenburg syndrome (WS) is a rare genetic disorder that affects both hearing and pigmentation. The wide divergence of WS poses significant diagnostic and management challenges. This study investigated type 4 WS within an underrepresented Mongolian population. Whole-exome sequencing revealed that two unique heterozygous variants were identified in the SOX10 gene: c.393C>G (p.Asn131Lys) in a five-year-old female patient presenting with profound sensorineural hearing loss (SNHL), dystopia canthorum, and a white forelock; and c.535A>T (p.Lys179Ter) in a nine-year-old male patient presenting with profound SNHL, dystopia canthorum, and Hirschsprung's disease. Temporal bone imaging revealed abnormalities in the inner ear structure in both patients. The genotypic and phenotypic characteristics were meticulously delineated, incorporating the deleterious effects of these variants, as evaluated by multiple predictive tools and the American College of Medical Genetics and Genomics (ACMG) criteria. In addition, structural characterizations were also presented using AlphaFold. The findings of this study contribute valuable genetic data to the limited literature on type 4 WS within this ethnic group and highlight the importance of genetic testing and multidisciplinary care for this rare disorder in settings with limited resources.
    Scopus© Citations 2
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    A Unique SLC26A4 Mutation Spectrum in a Mongolian Enlarged Vestibular Aqueduct Cohort via Whole-Exome Sequencing: A Preliminary Study
    (2026-06)
    Erdenechuluun, Jargalkhuu
    ;
    Gombojav, Bayasgalan
    ;
    Batsaikhan, Tserendulam
    ;
    Lu, Yue-Sheng
    ;
    Danshiitsoodol, Narandalai
    Enlarged vestibular aqueduct (EVA) is a common inner ear malformation that causes sensorineural hearing loss. It is frequently associated with pathogenic variants in the SLC26A4 gene. This study aimed to investigate the genetic basis of hearing loss in Mongolian patients with EVA. Whole-exome sequencing was performed in 19 Mongolian patients from 15 unrelated families diagnosed with EVA with or without cochlear incomplete partition type II. All patients underwent high-resolution computed tomography of the temporal bone to confirm the diagnosis. Biallelic SLC26A4 pathogenic variants were identified in all 15 families, achieving a 100% diagnostic yield. The most frequent variant was c.919-2A>G (40%), followed by c.2027T>A (23.3%) and c.1318A>T (16.7%). The spectrum of variants includes population-specific variants found in East Asians (c.919-2A>G), North Asians (c.2027T>A), and Southwest Asians (c.716T>A), suggesting a unique mutation spectrum in this Mongolian cohort characterized by variants prevalent across various Eurasian populations, which remains to be confirmed in larger studies. Furthermore, correlation analyses on multi-ethnic allele frequencies of biallelic SLC26A4 genotypes demonstrated positive correlations with deaf cohorts of East Asian, North Asian, Northeast Asian, and Western Asian groups. Digenic inheritance (with pathogenic variants in FOXI1, KCNJ10, or EPHA2) was not observed, and there was no clear genotype-phenotype correlation between specific SLC26A4 genotypes and hearing levels or inner ear malformations. This study provides a comprehensive overview of the genetic landscape of EVA in the Mongolian population. The identification of biallelic SLC26A4 pathogenic variants in all families underscores the clinical role of this gene in EVA pathogenesis. The observed pan-ethnic mutation spectrum likely reflects the genetic diversity resulting from historical migrations of Mongolians.
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    Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study
    (2024-09)
    Gombojav, Bayasgalan
    ;
    Erdenechuluun, Jargalkhuu
    ;
    Makhbal, Zaya
    ;
    Danshiitsoodol, Narandalai
    ;
    Purevdorj, Erkhembulgan
    BACKGROUND/OBJECTIVE: The genetic landscape of sensorineural hearing impairment (SNHI) varies across populations. In Mongolia, previous studies have shown a lower prevalence of GJB2 mutations and a higher frequency of variants in other deafness-related genes. This study aimed to investigate the genetic variants associated with idiopathic SNHI in Mongolian patients. METHODS: We utilized the next-generation sequencing for investigating the causative mutations in 99 Mongolian patients with SNHI. RESULTS: We identified pathogenic variants in 53 of the 99 SNHI patients (54%), with SLC26A4 being the most frequently mutated gene. The c.919-2A>G variant in SLC26A4 was the most prevalent, accounting for 46.2% of the mutant alleles. In addition, we identified 19 other known and 21 novel mutations in a total of 21 SNHI genes in autosomal recessive or dominant inheritance patterns. CONCLUSIONS: Our findings expand the understanding of the genetic landscape of SNHI in Mongolia and highlight the importance of considering population-specific variations in genetic testing and counseling for SNHI.
    Scopus© Citations 2