Εμφανίζονται 1 - 20 Αποτελέσματα από 35 για την αναζήτηση '"аутовоспалительные заболевания"', χρόνος αναζήτησης: 0,73δλ Περιορισμός αποτελεσμάτων
  1. 1
    Academic Journal

    Συνεισφορές: Исследование проводилось в рамках фундаментальной научной темы 1021051302580-4 РК 122040400034- 6 «Выявление клинических фенотипов и прогнозирование вариантов течения аутоиммунных и аутовоспалительных ревматических заболеваний детского возраста» в лаборатории ревматических заболеваний детского возраста ФГБНУ НИИР им. В.А. Насоновой.

    Πηγή: Rheumatology Science and Practice; Vol 62, No 2 (2024); 216-226 ; Научно-практическая ревматология; Vol 62, No 2 (2024); 216-226 ; 1995-4492 ; 1995-4484

    Περιγραφή αρχείου: application/pdf

    Relation: https://rsp.mediar-press.net/rsp/article/view/3552/2369; Федоров ЕС, Салугина СО, Кузьмина НН. Развитие учения об аутовоспалительных заболеваниях в XXI в. Научно-практическая ревматология. 2018;56(Прил 4):5-18. doi:10.14412/1995-4484-2018-5-18; Vaster SJ, Kuis W, Grom A. Systemic JIA. New developments in understanding of the pathophysiology and therapy. Best Pract Clin Rheumatol. 2009;23:655-664. doi:10.1016/j.berh.2009.09.003; Efthimiou P, Nandini Moorthy L, Mavragani CP, Skokos D, Fautrel B. Adult onset Still’s disease and autoinflammation. Intern J Inflammat. 2012;Article ID 964751. doi:10.1155/2012/964751; Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, et al. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol Suppl. 1987;66:57-68. doi:10.3109/03009748709102523; Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M. Type I interferonopathies in pediatric rheumatology. Pediatr Rheum. 2016;14:35. doi:10.1186/s12969-016-0094-4; Lo MS. Insights gained from the study of pediatric systemic lupus erythematosus. Front Immunol. 2018;9:1278. doi:10.3389/fimmu.2018.01; Лисицына ТА, Алекберова ЗС, Голоева РГ, Давыдова ГА. Болезнь Бехчета: клинические проявления, современные принципы диагностики и терапии. Научно-практическая ревматология. 2019;57(5):553-563. doi:10.14412/1995-4484-2019-553-563; Ohno S, Ohguchi M, Hirose S, Matsuda H, Wakisaka A, Aizawa M. Close association of HLA-Bw51 with Behçet’s disease. Arch Ophthalmol. 1982;100:1445-1458.; Алекберова ЗС. Болезнь Бехчета: этнос и семейная агрегация. Научно-практическая ревматология. 2016;54(3):244-246. doi:10.14412/1995-4484-2016-244-246; Алекберова ЗС, Измаилова ФИ, Гусева ИА, Денисов ЛН, Глухова СИ, Попкова ТВ. HLA-B5/51 генотип: связь с клиническими проявлениями болезни Бехчета. Научно-практическая ревматология. 2015;53(4):367-370. doi:10.14412/1995-4484-2015-367-370; Meguro A, Mizuki N, Gul A, Kitaichi N, Ohno S Behchet’s syndrome according to classical and population genetics. In: Behchet’s Syndrome. From Pathogenesis to Treatment. Springer;2014:25-37.; Алекберова ЗС, Крылов МЮ, Гусева ИА, Насонов ЕЛ. Антиген HLA-A26(10) не ассоциирован с болезнью Бехчета в смешанной мультиэтнической выборке больных. Медицинская генетика. 2012;11(6):35-38.; Gül A, Inanç M, Ocal L, Aral O, Koniçe M. Familial aggregation of Behçet’s disease in Turkey. Ann Rheum Dis. 2000;59:622-625. doi:10.1136/ard.59.8.622; Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016;48(1):67-73. doi:10.1038/ng.3459; Aksentijevich I, Zhou Q. NF-κB pathway in autoinflammatory diseases: Dysregulation of protein modifications by ubiquitin defines a new category of autoinflammatory diseases. Front Immunol. 2017;8:399. doi:10.3389/fimmu.2017.00399; Vereecke L, Beyaert R, van Loo G. Genetic relationships between A20/TNFAIP3, chronic inflammation and autoimmune disease. Biochem Soc Trans. 2011;39:1086-1091. doi:10.1042/BST0391086; Aeschlimann FA, Batu ED, Canna SW, Go E, Gül A, Hoffmann P, et al. A20 haploinsufficiency (HA20): Clinical phenotypes and disease course of patients with a newly recognised NF-kBmediated autoinflammatory disease. Ann Rheum Dis. 2018;77(5):728-735. doi:10.1136/annrheumdis-2017-212403; Gans MD, Wang H, Moura NS, Aksentijevich I, Rubinstein A. A20 haploinsufficiency presenting with a combined immunodeficiency. J Clin Immunol. 2020;40:1041-1044. doi:10.1007/s10875-020-00823-5; Steiner A, Harapas CR, Masters SL, Davidson S. An update on autoinflammatory diseases: Relopathies. Curr Rheumatol Rep. 2018;20:39. doi:10.1007/s11926-018-0749-x; Rood JE, Behrens EM. Inherited Autoinflammatory syndromes. Ann Rev Pathol. 2022;17:227-249. doi:10.1146/annurev-pathmechdis-030121-041528; Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, et al. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci U S A. 2016;113(36):10127-10132. doi:10.1073/pnas.1612594113; Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, et al. The deubiquitinase OTULIN is an essential negative regulator of inflammation and autoimmunity. Cell. 2016;166(5):1215-1230.e20. doi:10.1016/j.cell.2016.07.019; Yildiz M, Haslak F, Adrovic A, Sahin S, Koker O, Barut K, et al. Pediatric Behçet’s disease. Front Med (Lausanne). 2021;8:627192. doi:10.3389/fmed.2021.627192; Kadowaki T, Kadowaki S, Ohnishi H A20 haploinsufficiency in East Asia. Front Immunol. 2021;12:780689. doi:10.3389/fimmu.2021.780689; Yu M-P, Xu X-S, Zhou Q, Deuitch N, Lu M-P. Haploinsufficiency of A20 (HA20): Updates on the genetics, phenotype, pathogenesis and treatment. World J Pediatr. 2020;16:575-584. doi:10.1007/s12519-019-00288-6; Потрохова ЕА, Балева ЛС, Якушева ЕН, Сафонова МП. Бехчета-подобный семейный аутовоспалительный синдром у ребенка, постоянно проживающего на территории, загрязненной радионуклидами. Российский вестник перинатологии и педиатрии. 2018;63(4):218.; Потрохова ЕА, Балева ЛС, Сипягина АЕ, Якушева ЕН, Сафонова МН. Бехчета-подобный семейный аутовоспалительный синдром. Российский вестник перинатологии и педиатрии. 2021;66(2):110-115. doi:10.21508/1027-4065-2021-66-2-110-115; Matkava V, Salugina S, Nikishina I, Shapovalenko A, Fedorov E, Kolkhidova Z. A case report of haploinsufficiency of A20 in a Russian patient with Behҫet-like disease in pediatric rheumatogist practice. Pediatric Rheumatology. 2021;19(Suppl 1):73-74. doi:10.1186/s12969-021-00632-z; Berteau F, Rouviere B, Delluc A, Nau A, Le Berre R, Sarrabay G, et al. Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature. Autoimmun Rev. 2018;17(8):809-815. doi:10.1016/j.autrev.2018.02.012; Li GM, Liu HM, Guan WZ, Xu H, Wu BB, Sun L. Expanding the spectrum of A20 haploinsufficiency in two Chinese families: Cases report. BMC Med Genet. 2019;20(1):124. doi:10.1186/s12881-019-0856-1; Голоева РГ, Алекберова ЗС, Лисицына ТА, Степанова ЕА, Орлова ЛП. Поражение кишечника при болезни Бехчета. Терапевтический архив. 2019;91(5):111-119. doi:10.26442/00403660.2019.05.000247; Кузьмина НН, Федоров ЕС, Салугина СО, Алекберова ЗС. Болезнь Бехчета у детей (российский опыт). Научно-практическая ревматология. 2015;53(3):312-318. doi:10.14412/1995-4484-2015-312-318

  2. 2
    Academic Journal

    Πηγή: Meditsinskiy sovet = Medical Council; № 1 (2024); 276–280 ; Медицинский Совет; № 1 (2024); 276–280 ; 2658-5790 ; 2079-701X

    Περιγραφή αρχείου: application/pdf

    Relation: https://www.med-sovet.pro/jour/article/view/8106/7164; Захарова ИН, Османов ИМ, Творогова ТМ, Горяйнова АН, Дмитриева ЮА, Воробьева АС, Короид НВ. Длительная лихорадка у ребенка: в чем причина, как обследовать, лечить или не лечить? Медицинский совет. 2020;(10):151–162. https://doi.org/10.21518/2079-701X-2020-10-151-162.; Сомова ТМ. Аутовоспалительное заболевание – синдром гипериммуноглобулинемии D. Медицинский вестник Юга России. 2022;13(2):141–145. https://doi.org/10.21886/2219-8075-2022-13-2-141-145; Салугина СО, Федоров ЕС, Агафонова ЕМ. Моногенные аутовоспалительные заболевания у детей и взрослых: что необходимо знать ревматологу. Научно-практическая ревматология. 2019;57(2):125–132. https://doi.org/10.14412/1995-4484-2019-125-132.; Гатторно М. Аутовоспалительные заболевания у детей. Вопросы современной педиатрии. 2014;13(2):55–64. https://doi.org/10.14412/1995-4484-2019-125-132.; Крутихина СБ, Горелов АВ, Яблокова ЕА, Тюрина ЕН, Мелешкина АВ, Чебышева СН, Савватеева ОА. Семейная средиземноморская лихорадка у детей: современные методы диагностики и подходы к терапии болевого абдоминального синдрома. Вопросы детской диетологии. 2021;19(2):76–82. https://doi.org/10.20953/1727-5784-2021-2-76-82.; Lancieri M, Bustaffa M, Palmeri S, Prigione I, Penco F, Papa R et al. An Update on Familial Mediterranean Fever. Int J Mol Sci. 2023;24(11):9584. https://doi.org/10.3390/ijms24119584.; Diaz A, Hu C, Kastner DL, Schaner P, Reginato AM, Richards N, Gumucio DL. Lipopolysaccharide-Induced Expression of Multiple Alternatively Spliced MEFV Transcripts in Human Synovial Fibroblasts: A Prominent Splice Isoform Lacks the C-Terminal Domain That Is Highly Mutated in Familial Mediterranean Fever. Arthritis Rheum. 2004;50(11):3679–3689. https://doi.org/10.1002/art.20600.; Zadeh N, Getzug T, Grody WW. Diagnosis and Management of Familial Mediterranean Fever: Integrating Medical Genetics in a Dedicated Interdisciplinary Clinic. Genet Med. 2011;13(3):263–269. https://doi.org/10.1097/GIM.0b013e31820e27b1.; Di Donato G, d’Angelo DM, Breda L, Chiarelli F. Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives. Int J Mol Sci. 2021;22(12):6360. https://doi.org/10.3390/ijms22126360.; Zhang S. Natural history of mevalonate kinase deficiency: a literature review. Pediatr Rheumatol Online J. 2016;14(1):30. https://doi.org/10.1186/s12969-016-0091-7.; Федоров ЕС, Салугина СО, Соболева МК. Семейный случай TRAPS-синдрома в российской популяции. Современная ревматология. 2015;9(1):60–65. https://doi.org/10.14412/1996-7012-2015-1-60-65.; Shu Z, Zhang Y, Han T, Li Y, Piao Y, Sun F et al. The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China. Front Immunol. 2023;14:1267933. https://doi.org/10.3389/fimmu.2023.1267933.; Ter Haar N, Lachmann H, Ozen S, Woo P, Uziel Y, Modesto C et al. Treatment of autoinflammatory diseases: results from the eurofever registry and a literature review. Ann Rheum Dis. 2013;72(5):678–685. https://doi.org/10.1136/annrheumdis-2011-201268.; Ozen S, Demirkaya E, Erer B, Livneh A, Ben-Chetrit E, Giancane G et al. EULAR recommendations for the management of familial mediterranean fever. Ann Rheum Dis. 2016;75(4):644–651. https://doi.org/10.1136/annrheumdis-2015-208690.; Stahl S, Graslund T, Eriksson Karlstrom A, Frejd FY, Nygren PA, Lofblom J. Affibody molecules in biotechnological and medical applications. Trends Biotechnol. 2017;35(8):691–712. https://doi.org/10.1016/j.tibtech.2017.04.007.; Kullenberg T, Lofqvist M, Leinonen M, Goldbach-Mansky R, Olivecrona H. Long-term safety profile of anakinra in patients with severe cryopyrinassociated periodic syndromes. Rheumatology (Oxford). 2016;55(8):1499–1506. https://doi.org/10.1093/rheumatology/kew208.; Ozen S, Kuemmerle-Deschner JB, Cimaz R, Livneh A, Quartier P, Kone-Paut I et al. International retrospective chart review of treatment patterns in severe FMF, TRAPS and MKD/HIDS. Arthritis Care Res (Hoboken). 2017;69(4):578–586. https://doi.org/10.1002/acr.23120.; Nedjai B, Quillinan N, Coughlan RJ, Church L, McDermott MF, Hitman GA et al. Lessons from anti-TNF biologics: infliximab failure in a TRAPS family with the T50M mutation in TNFRSF1A. Adv Exp Med Biol. 2011;691:409–419. https://doi.org/10.1007/978-1-4419-6612-4_43.; Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y et al. JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. J Clin Invest. 2018;128(7):3041–3052. https://doi.org/10.1172/JCI98814.; Shendi HM, Devlin LA, Edgar JD. Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome. J Clin Rheumatol. 2014;20(2):103–105. https://doi.org/10.1097/01.RHU.0000442576.41537.de.; Kaplan E, Mukamel M, Barash J, Brik R, Padeh S, Berkun Y et al. Protracted febrile myalgia in children and young adults with familial mediterranean fever: analysis of 15 patients and suggested criteria for working diagnosis. Clin Exp Rheumatol. 2007;25(4):114–117. Available at: https://pubmed.ncbi.nlm.nih.gov/17949564.; Морозова ТЕ, Андрущишина ТБ, Антипова ЕК. Ибупрофен: безопасность и эффективность применения в широкой клинической практике. Терапевтический архив. 2013;85(3):118–124. Режим доступа: https://www.mediasphera.ru/issues/terapevticheskij-arkhiv/2013/3/030040-36602013322.

  3. 3
    Academic Journal

    Πηγή: Сборник статей

    Περιγραφή αρχείου: application/pdf

    Relation: Актуальные вопросы современной медицинской науки и здравоохранения: материалы VII Международной научно-практической конференции молодых учёных и студентов, Екатеринбург, 17-18 мая 2022 г.; http://elib.usma.ru/handle/usma/10010

    Διαθεσιμότητα: http://elib.usma.ru/handle/usma/10010

  4. 4
    Academic Journal

    Συγγραφείς: T. M. Somova, Т. М. Сомова

    Πηγή: Medical Herald of the South of Russia; Том 13, № 2 (2022); 141-145 ; Медицинский вестник Юга России; Том 13, № 2 (2022); 141-145 ; 2618-7876 ; 2219-8075 ; 10.21886/2219-8075-2022-13-2

    Περιγραφή αρχείου: application/pdf

    Relation: https://www.medicalherald.ru/jour/article/view/1529/894; Hansmann S, Lainka E, Horneff G, Holzinger D, Rieber N, et al. Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative. Pediatr Rheumatol Online J. 2020;18(1):17. DOI:10.1186/s12969-020-0409-3.; Krainer j, Siebenhandl S, weinhäusel A. Systemic autoinflammatory diseases. J Autoimmun. 2020;109:102421. DOI:10.1016/j.jaut.2020.102421.; Барабанова О.В., Коноплeва Е.А., Продеус А.П., щербина А.Ю. Периодические синдромы. Трудный пациент. 2007;5(2): 21-24. eLIBRARY ID: 16861557; Салугина С.О., Каменец Е.А., Федоров Е.С., Захарова Е.Ю., Каледа М.И. Результаты молекулярно-генетического скрининга мутаций генов NLRP3, TNFRSF1A, MVK у пациентов с аутовоспалительными заболеваниями и системным ювенильным артритом. Современная ревматология. 2017;11(3):33-43. DOI:10.14412/1996-7012-2017-3-33-43; Barron K., Athreya B., Kastner D. Periodic fever syndromes and other inherited autoinflammatory diseases in: Cassidy jT, editor. Textbook of pediatric rheumatology. 7th ed. Elsevier Saunders; 2015.; Гатторно М. Аутовоспалительные заболевания у детей. Вопросы современной педиатрии. 2014;13(2):55-64. eLIBRARY ID: 21467355; Di Donato G, d'Angelo DM, Breda L, Chiarelli F. Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives. Int J Mol Sci. 2021;22(12):6360. DOI:10.3390/ijms22126360.; Дубко М.Ф., Раупов Р.К., Канева М.А., Суспицын Е.Н., Костик М.М. Синдром дефицита мевалонаткиназы у ребенка раннего возраста: ключевые аспекты диагностики и лечения. Педиатрия. Журнал им. Г.Н. Сперанского. 2021;100(2):276-283. DOI:10.24110/0031-403x-2021-100-2-276-283; Румянцев А.Г., Демина О.М. Аутовоспалительные заболевания: современная концепция патогенеза, клиники и диагностики. Педиатрия. Журнал им. Г.Н. Сперанского. 2020;99(3):211-219. DOI:10.24110/0031-403x-2020-99-3-211-219; Favier LA, Schulert GS. Mevalonate kinase deficiency: current perspectives. Appl Clin Genet. 2016;9:101-10. DOI:10.2147/TACG.S93933.; Munoz MA, jurczyluk j, Simon A, Hissaria P, Arts Rjw, et al. Defective Protein Prenylation in a Spectrum of Patients with Mevalonate Kinase Deficiency. Front Immunol. 2019;10:1900. DOI:10.3389/fimmu.2019.01900.; Rodrigues F, Philit jB, Giurgea I, Anglicheau D, Roux jj, et al. AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature. Semin Arthritis Rheum. 2020;50(6):1370- 1373. DOI:10.1016/j.semarthrit.2020.03.005.; Ozen S, Kuemmerle-DeschnerjB, Cimaz R, Livneh A, Quartier P, et al. International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome. Arthritis Care Res (Hoboken). 2017;69(4):578- 586. DOI:10.1002/acr.23120.; Козлова А.Л., Варламова Т.В., Зимин С.Б., Новичкова Г.А., щербина А.Ю. Опыт ведения больных с гипep-IGD-синдромом (синдромом дефицита мевалонаткиназы). Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016;15(1):46–53. DOI:10.20953/1726-1708-2016-1-46-53; Патрушева Ю.С., Бакрадзе М.Д. Синдром периодической лихорадки с дефицитом мевалонаткиназы (синдром гипериммуноглобулинемии D) у детей. Вопросы современной педиатрии. 2012;11(2):140-145. eLIBRARY ID: 17705237; Gattorno M, Sormani MP, D'Osualdo A, Pelagatti MA, Caroli F, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008;58(6):1823-32. DOI:10.1002/art.23474.; https://www.medicalherald.ru/jour/article/view/1529

  5. 5
    Academic Journal

    Συνεισφορές: The article has been funded by Novartis. Company employees did not participate in planning, conducting and discussing of the results of this study., Статья опубликована при поддержке компании «Новартис». Сотрудники компании не участвовали в планировании, проведении и обсуждении результатов настоящего исследования.

    Πηγή: Current Pediatrics; Том 19, № 3 (2020); 200-206 ; Вопросы современной педиатрии; Том 19, № 3 (2020); 200-206 ; 1682-5535 ; 1682-5527

    Περιγραφή αρχείου: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

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    Academic Journal

    Πηγή: Rheumatology Science and Practice; Vol 58, No 2 (2020); 183-190 ; Научно-практическая ревматология; Vol 58, No 2 (2020); 183-190 ; 1995-4492 ; 1995-4484

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    Πηγή: Rheumatology Science and Practice; Vol 54, No 1 (2016); 60-77 ; Научно-практическая ревматология; Vol 54, No 1 (2016); 60-77 ; 1995-4492 ; 1995-4484 ; 10.14412/rsp20161

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    Πηγή: Rheumatology Science and Practice; Vol 53, No 3 (2015); 312-318 ; Научно-практическая ревматология; Vol 53, No 3 (2015); 312-318 ; 1995-4492 ; 1995-4484 ; 10.14412/rsp20153

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