Academic Journal
MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac
| العنوان: | MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac |
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| المؤلفون: | Zou, Jing, Zhao, Zikai, Zhang, Guoping, Zhang, Qing, Pyykkö, Ilmari |
| المساهمون: | Tampere University, Computing Sciences, Clinical Medicine |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | 3125 Otorhinolaryngology, ophthalmology, 113 Computer and information sciences |
| الوصف: | The etiology and underlying mechanism of Meniere's disease (MD) development are still unknown, although inflammation and autoimmunity have been implicated as underlying mechanisms. The human endolymphatic sac (ES) has been reported to have innate and adaptive immune capacity in local immune reactions. In vivo demonstration of inflammation of the ES in patients with MD is missing in the literature. We report the case of a 47-year-old female patient diagnosed with unilateral MD with genetic variants and cytokine markers indicating inflammation and vascular congestion of the ES. Endolymphatic hydrops in the right cochlea (grade 2) and vestibulum (grade 3) were detected using MRI. She carried heterozygous variants in MEFV (c.442G > C), IRF8 (c.1157G > T), ADA (c.445C > T), PEPD (c.151G > A), NBAS (c.4049T > C), CSF2RB (c.2222C > T), HPS6 (c.277G > T), IL2RB (c.1109C > T), IL12RB1 (c.1384G > T), IL17RC (c.260_271del GCAAGAGC TGGG), LIG1 (c.746G > A), RAG1 (c.650C > A), and SLX4 (c.1258G > C, c.5072A > G). In the serum, the levels of granulocyte colony-stimulating factor (G-CSF), macrophage inflammatory protein 1α, and IL7 were significantly elevated, and the level of IL2Rα was reduced. Intratympanic administration of dexamethasone temporarily alleviated her hearing loss. Her vertigo was significantly relieved but remained slight after ES administration of corticosteroids. ; Peer reviewed |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | fulltext |
| اللغة: | English |
| Relation: | https://doi.org/10.1016/j.joto.2022.03.001; 17; https://trepo.tuni.fi/handle/10024/141386 |
| DOI: | 10.1016/j.joto.2022.03.001 |
| الاتاحة: | https://trepo.tuni.fi/handle/10024/141386 https://doi.org/10.1016/j.joto.2022.03.001 |
| Rights: | cc by-nc-nd 4.0 ; openAccess |
| رقم الانضمام: | edsbas.AC0AB99D |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.joto.2022.03.001 |
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