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    Academic Journal

    Πηγή: Pathologia; Vol. 18 No. 1 (2021): Pathologia; 50-57 ; Патология; Том 18 № 1 (2021): Патология; 50-57 ; Патологія; Том 18 № 1 (2021): Патологія; 50-57 ; 2310-1237 ; 2306-8027

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    Διαθεσιμότητα: http://pat.zsmu.edu.ua/article/view/220205

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    Academic Journal

    Πηγή: Acta Biomedica Scientifica; Том 6, № 6-1 (2021); 19-30 ; 2587-9596 ; 2541-9420

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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006; 91(8): 2843-2850. doi:10.1210/jc.2005-2611; Derbinski J, Schulte A, Kyewski B, Klein L. Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self. Nat Immunol. 2001; 2(11): 1032-1039. doi:10.1038/ni723; Kyewski B, Derbinski J, Gotter J, Klein L. Promiscuous gene expression and central T-cell tolerance: More than meets the eye. Trends Immunol. 2002; 23(7): 364-371. doi:10.1016/s1471-4906(02)02248-2; Kyewski B, Derbinski J. Self-representation in the thymus: An extended view. Nat Rev Immunol. 2004; 4(9): 688-698. doi:10.1038/nri1436; Kyewski B, Klein L. A central role for central tolerance. Annu Rev Immunol. 2006; 24: 571-606. doi:10.1146/annurev.immunol.23.021704.115601; Ramsey C, Winqvist O, Puhakka L, Halonen M, Moro A, Kämpe O, et al. Aire defi cient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet. 2002; 11(4): 397-409. doi:10.1093/hmg/11.4.397; Anderson MS, Venanzi ES, Klein L, Chen Z, Berzins SP, Turley SJ, et al. Projection of an immunological self shadow within the thymus by the Aire protein. Science. 2002; 298(5597): 1395-1401. doi:10.1126/science.1075958; Liston A, Lesage S, Wilson J, Peltonen L, Goodnow CC. Aire regulates negative selection of organ-specific T cells. Nat Immunol. 2003; 4(4): 350-354. doi:10.1038/ni906; Kuroda N, Mitani T, Takeda N, Ishimaru N, Arakaki R, Hayashi Y, et al. Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Airedeficient mice. J Immunol. 2005; 174(4): 1862-1870. doi:10.4049/jimmunol.174.4.1862; Anderson MS, Venanzi ES, Chen Z, Berzins SP, Benoist C, Mathis D. The cellular mechanism of Aire control of T cell tolerance. Immunity. 2005; 23(2): 227-239. doi:10.1016/j.immuni.2005.07.005; Malchow S, Leventhal DS, Nishi S, Fischer BI, Shen L, Paner GP, et al. Aire-dependent thymic development of tumorassociated regulatory T cells. Science. 2013; 339(6124): 1219-1224. doi:10.1126/science.1233913; Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: Known and novel aspects of the syndrome. Ann N Y Acad Sci. 2011; 1246: 77-91. doi:10.1111/j.1749-6632.2011.06308.x; Sato K, Nakajima K, Imamura H, Deguchi T, Horinouchi S, Yamazaki K, et al. A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: Case report and review of the literature in Japan. Endocr J. 2002; 49(6): 625-633. doi:10.1507/endocrj.49.625; Yan Z, Gang X, Xie X, Gao Y, Li Z, Wang G. A case report and literature review: Identification of a novel AIRE gene mutation associated with Autoimmune Polyendocrine Syndrome Type 1 in East Asians. Medicine (Baltimore). 2020; 99(18): e20000. doi:10.1097/MD.0000000000020000; Constantine GM, Lionakis MS. Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Immunol Rev. 2019; 287(1): 103-120. doi:10.1111/imr.12714; Bruserud Ø, Oftedal BE, Wolff AB, Husebye ES. AIREmutations and autoimmune disease. Curr Opin Immunol. 2016; 43: 8-15. doi:10.1016/j.coi.2016.07.003; Orlova EM, Sozaeva LS, Kareva MA, Oftedal BE, Wolff AB, Breivik L, et al. Expanding the phenotypic and genotypic landscape of autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab. 2017; 102(9): 3546-3556. doi:10.1210/jc.2017-00139; Garelli S, Dalla Costa M, Sabbadin C, Barollo S, Rubin B, Scarpa R, et al. Autoimmune polyendocrine syndrome type 1: An Italian survey on 158 patients. J Endocrinol Invest. 2021; 44(1): 2493-2510. doi:10.1007/s40618-021-01585-6; Cervato S, Mariniello B, Lazzarotto F, Morlin L, Zanchetta R, Radetti G, et al. Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmunepolyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. Clin Endocrinol (Oxf). 2009; 70(3): 421-428. doi:10.1111/j.1365-2265.2008.03318.x; Larosa MDP, Mackenzie R, Burne P, Garelli S, Barollo S, Masiero S, et al. Assessment of autoantibodies to interferon-ω in patients with autoimmune polyendocrine syndrome type 1: Using a new immunoprecipitation assay. Clin Chem Lab Med. 2017; 55(7): 1003-1012. doi:10.1515/cclm-2016-0615; Meager A, Visvalingam K, Peterson P, Möll K, Murumägi A, Krohn K, et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med. 2006; 3(7): 1152-1164. doi:10.1371/journal.pmed.0030289; Oftedal BE, Bøe Wolff AS, Bratland E, Kämpe O, Perheentupa J, Myhre AG, et al. Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. Clin Immunol. 2008; 129(1): 163-169. doi:10.1016/j.clim.2008.07.002; Meloni A, Furcas M, Cetani F, Marcocci C, Falorni A, Perniola R, et al. Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab. 2008; 93(11): 4389-4397. doi:10.1210/jc.2008-0935; Mazza C, Buzi F, Ortolani F, Vitali A, Natarangelo LD, Weber G, et al. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Clin Immunol. 2011; 139(1): 6-11. doi:10.1016/j.clim.2010.12.021; Ferre EMN, Rose SR, Rosenzweig SD, Burbelo PD, Romito KR, Niemela JE, et al. Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. JCI Insight. 2016; 1(13): e88782. doi:10.1172/jci.insight.88782; Betterle C, Greggio NA, Volpato M. Autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab. 1998; 83(4): 1049-1055. doi:10.1210/jcem.83.4.4682; Трошина В.В., Гребенникова Т.А., Белая Ж.Е. Клинический случай поздней манифестации первичной надпочечниковой недостаточности в рамках аутоиммунного полигландулярного синдрома 1-го типа. Альманах клинической медицины. 2019; 47(2): 175-179. doi:10.18786/2072- 0505-2019-47-017; Pazderska A, Pearce SH. Adrenal insufficiency – recognition and management. Clin Med (Lond). 2017; 17(3): 258-262. doi:10.7861/clinmedicine.17-3-258; Hellesen A, Bratland Е, Husebye ES. Autoimmune Addison’s disease – An update on pathogenesis. Ann Endocrinol (Paris). 2018; 79(3): 157-163. doi:10.1016/j.ando.2018.03.008; Matteson KJ, Picado-Leonard J, Chung BC, Mohandas TK, Miller WL. Assignment of the gene for adrenal P450c17 (steroid 17α-hydroxylase/17,20 lyase) to human chromosome 10. J Clin Endocrinol Metab. 1986; 63(3): 789-791. doi:10.1210/jcem-63-3-789; Uibo R, Aavik E, Peterson P, Perheentupa J, Aranko S, Pelkonen R, et al. Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison’s disease. J Clin Endocrinol Metab. 1994; 78(2): 323-328. doi:10.1210/jcem.78.2.8106620; Bornstein SR, Allolio B, Arlt W, Barthel A, Don-Wauchope A, Hammer GD, et al. Diagnosis and treatment of primary adrenal insufficiency: An endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2016; 101(2): 364-389. doi:10.1210/jc.2015-1710; Reznik Y, Barat P, Bertherat J, Bouvattier C, Castinetti F, Chabre O, et al. SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook. Ann Endocrinol (Paris). 2018; 79(1): 1-22. doi:10.1016/j.ando.2017.12.001; Еремкина А.К., Ковалева Е.В. Гипопаратиреоз: этиология, клиническая картина, современные методы диагностики и лечения. Альманах клинической медицины. 2016; 44(4): 477-492. doi:10.18786/2072-0505-2016-44-4-477-492; Bollerslev J, Rejnmark L, Marcocci C, Shoback DM, SitgesSerra A, van Biesen W, et al. European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults. Eur J Endocrinol. 2015; 173(2): G1-G20. doi:10.1530/EJE-15-0628; Bilezikian JP. Hypoparathyroidism. J Clin Endocrinol Metab. 2020; 105(6): 1722-1736. doi:10.1210/clinem/dgaa113; Rubin MR. Recent advances in understanding and managing hypoparathyroidism. F1000Res. 2020; 9: F1000 Faculty Rev-766. doi:10.12688/f1000research.22717.1; Bilezikian JP, Khan A, Potts JT Jr, Brandi ML, Clarke BL, Shoback D, et al. Hypoparathyroidism in the adult: Epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res. 2011; 26(10): 2317-2337. doi:10.1002/jbmr.483; Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. New Engl J Med. 1990; 322(26): 1829-1836. doi:10.1056/NEJM199006283222601; Chascsa DM, Ferré EMN, Hadjiyannis Y, Alao H, Natarajan M, Quinones M, et al. APECED-associated hepatitis: clinical, biochemical, histological and treatment data from a large, predominantly American cohort. Hepatology. 2021; 73(3): 1088-1104. doi:10.1002/hep.31421; Borchers J, Pukkala E, Mäkitie O, Laakso S. Patients with APECED have increased early mortality due to endocrine causes, malignancies and infections. J Clin Endocrinol Metab. 2020; 105(6): e2207-e2213. doi:10.1210/clinem/dgaa140; Merenmies L, Tarkkanen A. Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis-ectodermal dystrophy (APECED). A long-term follow-up and visual prognosis. Acta Ophthalmol Scand. 2000; 78(5): 532-535. doi:10.1034/j.1600-0420.2000.078005532.x; Shah M, Holland E, Chan CC. Resolution of autoimmune polyglandular syndrome-associated keratopathy with keratolimbal stem cell transplantation: Case report and historical literature review. Cornea. 2007; 26(5): 632-635. doi:10.1097/ICO.0b013e3180415d1a; Thorpe E, Handley H. Сhronic tetany and chronic mycelial stomatitis in a child aged four and one-half years. Am J Dis Child. 1929; 38(2): 328-338. doi:10.1001/archpedi.1929.01930080104011; Gass JD. The syndrome of keratoconjunctivitis, superfi cial moniliasis, idiopathic hypoparathyroidism and Addison’s disease. Am J Ophthalmol. 1962; 54(4): 660-674. doi:10.1016/0002-9394(62)92198-0; Wagman RD, Kazdan JJ, Kooh SW, Fraser D. Keratitis associated with the multiple endocrine deficiency, autoimmune disease, and candidiasis syndrome. Am J Ophthalmol. 1987; 103(4): 569-575. doi:10.1016/s0002-9394(14)74281-3; Solomon A, Ellies P, Anderson DF, Touhami A, Grueterich M, Espana EM, et al. Long-term outcome of keratolimbal allograft with or without penetrating keratoplasty for total limbal stem cell defi ciency. Ophthalmology. 2002; 109(6): 1159-1166. doi:10.1016/s0161-6420(02)00960-0; Dua HS, Gomes JA, Singh A. Corneal epithelial wound healing. Br J Ophthalmol. 1994; 78(5): 401-408. doi:10.1136/bjo.78.5.401; Deng SX, Borderie V, Chan CC, Dana R, Figueiredo FC, Gomes JAP, et al. Global consensus on definition, classification, diagnosis, and staging of limbal stem cell deficiency. Cornea. 2019; 38(3): 364-375. doi:10.1097/ICO.0000000000001820; Wu PY, Chang HW, Chen WL. Neurotrophic keratitis in autoimmune polyglandular syndrome type 1: A case report. BMC Ophthalmol. 2021; 21(1): 17. doi:10.1186/s12886-020-01770-w; Müller LJ, Marfurt CF, Kruse F, Tervo TM. Corneal nerves: structure, contents and function. Exp Eye Res. 2003; 76(5): 521-542. doi:10.1016/s0014-4835(03)00050-2; Chen FY, Lee A, Ge S, Nathan S, Knox SM, McNamara NA. Aire-deficient mice provide a model of corneal and lacrimal gland neuropathy in Sjögren’s syndrome. PLoS One. 2017; 12(9): e0184916. doi:10.1371/journal.pone.0184916; Baril C, Vincent A, Héon E, Ali A, MacDonald I, Lueder GT, et al. Retinal degeneration in autoimmune polyglandular syndrome type 1: A case series. Br J Ophthalmol. 2015; 99(11): 1536-1542. doi:10.1136/bjophthalmol-2014-305897; Sakaguchi H, Mizuochi T, Haruta M, Takase R, Yoshida S, Yamashita Y, et al. AIRE gene mutation presenting at age 2 years with autoimmune retinopathy and steroid-responsive acute liver failure: A case report and literature review. Front Immunol. 2021; 12: 687280. doi:10.3389/fimmu.2021.687280; Couturier A, Brézin AP. Ocular manifestations of autoimmune polyendocrinopathy syndrome type 1. Curr Opin Ophthalmol. 2016; 27(6): 505-513. doi:10.1097/ICU.0000000000000306; O’brien CS. The cataract of post-operative tetany with report of three cases. Trans Am Ophthalmol Soc. 1931; 29: 100-139.; Mannstadt M, Bilezikian JP, Thakker RV, Hannan FM, Clarke BL, Rejnmark L, et al. Hypoparathyroidism. Nat Rev Dis Primers. 2017; 3: 17055. doi:10.1038/nrdp.2017.55; Underbjerg L, Sikjaer T, Mosekilde L, Rejnmark L. The epidemiology of nonsurgical hypoparathyroidism in Denmark: A nationwide case finding study. J Bone Miner Res. 2015; 30(9): 1738-1744. doi:10.1002/jbmr.2501; Kim SH, Rhee Y, Kim YM, Won YJ, Noh J, Moon H, et al. Prevalence and complications of nonsurgical hypoparathyroidism in Korea: A nationwide cohort study. PLoS One. 2020; 15(5): e0232842. doi:10.1371/journal.pone.0232842; Мальчугина А.А., Атарщиков Д.С., Липатов Д.В., Мельниченко Г.А. Гипопаратиреоз и катаракта. Клиническая и экспериментальная тиреоидология. 2009; 5(4): 9-14. doi:10.14341/ket2009549-14; Shoback DM, Bilezikian JP, Costa AG, Dempster D, Dralle H, Khan AA, et al. Presentation of hypoparathyroidism: Etiologies; and clinical features. J Clin Endocrinol Metab. 2016; 101(6): 2300-2312. doi:10.1210/jc.2015-3909; https://www.actabiomedica.ru/jour/article/view/3107

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    Academic Journal

    Πηγή: CHILDREN INFECTIONS; Том 15, № 3 (2016); 57-62 ; ДЕТСКИЕ ИНФЕКЦИИ; Том 15, № 3 (2016); 57-62 ; 2618-8139 ; 2072-8107 ; 10.22627/2072-8107-2016-15-3

    Περιγραφή αρχείου: application/pdf

    Relation: https://detinf.elpub.ru/jour/article/view/248/244; Шамшева О.В., Молочкова О.В. Спектр применения отечественного противовирусного препарата в педиатрии // Детские инфекции, 2015;14(4):26—30. Shamsheva O.V., Molochkova O.V. [The Range of Application of Domestic Antiviral Medication in Pediatrics] // Children Infections, 2015;14(4):26—30. (In Russ.); Астахов Ю.С., Соколов В.О., Морозова Н.В. Исследование переносимости и клинической эффективности препарата «Окомистин» в комбинации с препаратом «Офтальмоферон» при лечении аденовирусных заболеваний глаз // Офтальмологические ведомости. 2013;VI(4):51—55. Astakhov Yu.S., Sokolov V.O., Morozova N.V. [The tolerability and clinical efficacy of Okomistin in combination with Ophtalmoferon in the treatment of adenoviral eye diseases]. // Ophthalmology Journal (Ophthalmologic Vedomosti) 2013;VI(4):51—55. (In Russ.); Нероев В.В., Майчук Ю.Ф. Заболевания конъюнктивы. В кн. «Краткое издание национального руководства по офтальмологии». — М., 2014. Гл. 8. С. 367—407. Neroev V.V., Maychuk Yu.F. [The diseases of conjunctiva. Short edition of the National Manual of Ophthalmology]. — Moscow, 2014; Ch8:367—407. (In Russ.); Астахов Ю.С., Рикс И.А. Современные методы диагностики и лечения конъюнктивитов: Методич. руководство. — СПБ., 2007. С. 12—14. Astakhov Yu.S., Riks I.A. [Modern methods of diagnosis and treatment of conjunctivitis: Methodological Guide]. — St. Petersburg, 2007;12—14. (In Russ.); Педиатрия. Национальное руководство. Краткое издание под редакцией А. А. Баранова. Глава 54. Конъюнктивиты и кератиты у детей. — М., 2013. С. 735—749. [Pediatrics. National Manual]. Short Edition, edited by Baranov A.A., — Moscow, 2013;Ch.54: Conjunctivitis and keratitis in children:735—749. (In Russ.); Бржеский В.В., Калинина И.В. Основные направления медикаментозной терапии больных с роговично-конъюнктивальным ксерозом // Медицинский совет. 2015, 11, С.120—125. Brzheskiy V.V., Kalinin I.V. [Key areas of medication-based therapy in patients with corneoconjunctival xerosis] // Meditsinsky Sovet (Medical Council) 2015;(11):120—125. (In Russ.); Азнабаев М.Т., Мальханов В.Б. Аденовирусные и хламидийные заболевания глаз. — Уфа, 1995. 110 с. Aznabaev M.T., Malkhanov V.B. [Adenoviral and chlamydial eye diseases]. — Ufa, 1995;110. (In Russ.); Kaneko H., Suzutani T., Aoki K. et al. Epidemiological and virological features of epidemic keratoconjunctivitis due to new human adenovirus type 54 in Japan // Br J Ophthalmol. 2011. № 95(1). P. 32—36.; Keenlyside R.A., Hierholzer J.C., D'Angelo L.J. Keratoconjunctivitis associated with adenovirus type 37: an extended outbreak in an ophthalmologist's office // J Infect Dis. 1983. № 147(2). P. 191—198.; Маркова Е.Ю. Особенности лечения воспалительных заболеваний глаз у детей // Эффективная фармакотерапия. Педиатрия. №4, 2010, С. 22—25. Markova E.Yu. [Clinical features and treatment of inflammatory eye diseases in children] // Effective Рharmacotherapy. Pediatrics. 2010;(4):22—25. (In Russ.); Murrah W.F. Epidemic keratoconjunctivitis // Ann Ophthalmol. 1988. № 20(1). P. 36—38.; Ozcan A.A., Ersoz T.R., Dulger E. Management of severe allergic conjunctivitis with topical cyclosporin a 0,05% eyedrops // Cornea. 2007. № 26. P. 1035—1038.; Darougar S., Hunter P.A., Viswalingam M., Gibson J.A., Jones B.R. Acute follicular conjunctivitis and keratoconjunctivitis in London // Br J Ophthalmol. 1978. № 62 (12). P. 843—849.; Doan S., Gabison E., Abitbol O. et al. Efficacy of topical 2% cyclosporine A as a steroid-sparing agent in steroid-dependent vernal keratoconjunctivitis // J Fr Ophtalmol. 2007. № 30. P. 697—701.; Reinhard T., Godehardt E., Pfahl H.G., Sundmacher R. 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    Academic Journal

    Πηγή: Ophthalmology in Russia; Том 12, № 2 (2015); 4-12 ; Офтальмология; Том 12, № 2 (2015); 4-12 ; 2500-0845 ; 1816-5095 ; 10.18008/1816-5095-2015-2

    Περιγραφή αρχείου: application/pdf

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