G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet. 1993r;52(3):551–6. PMID: 8447321","Мазунин И.О., Володько Н.В., Стариковская Е.Б., Сукерник Р.И. Митохондриальный геном и митохондриальные заболевания человека. Молекулярная биология. 2010;44(5):755–72.","Celentano V., Esposito E., Perrotta S., Giglio M.C., Tarquini R., Luglio G., et al. Madelung disease: report of a case and review of the literature. Acta Chir Belg. 2014;114(6):417–20. PMID: 26021689","Lemaitre M., Chevalier B., Jannin A., Bourry J., Espiard S., Vantyghem M.C. Multiple symmetric and multiple familial lipomatosis. Presse Med. 2021;50(3):104077. DOI: 10.1016/j.lpm.2021.104077","Вецмадян Е.А., Труфанов Г.Е., Рязанов В.В., Мостовая О.Т., Новиков К.В., Карайванов Н.С. Ультразвуковая диагностика липом мягких тканей с использованием методик цветного допплеровского картирования и эластографии. Вестник Российской Военно-медицинской академии. 2012;2(38):43–50.","Богов А.А., Андреев П.С., Филиппов В.Л., Топыркин В.Г. Оперативное лечение болезни Маделунга. Практическая медицина. 2018;16(7-1):90–3.","Уракова Е.В., Нестеров О.В., Ильина Р.Ю., Лексин Р.В. Хирургическая тактика при рецидивирующем липоматозе (болезни Маделунга). Клинический случай. Практическая медицина. 2022;20(6):131–3.","Егай А.А., Тентимишев А.Э., Норматов Р.М., Тян А.С. Хирургическое лечение множественного симметричного липоматоза (болезнь Маделунга), осложненного сдавлением яремных вен с обеих сторон. Преимущества липэктомии перед липосакцией. Научное обозрение. Медицинские науки. 2022;1:5– 10. DOI: 10.17513/srms.1225","Тимербулатов М.В., Шорнина А.С., Лихтер Р.А., Каипов А.Э. Оценка липосакции в структуре абдоминопластики и сочетанной герниоабдоминопластики. Креативная хирургия и онкология. 2023;13(4):278–83. DOI: 10.24060/2076-3093-2023-13-4-278-283","Dang Y., Du X., Ou X., Zheng Q., Xie F. Advances in diagnosis and treatment of Madelung’s deformity. Am J Transl Res. 2023;15(7):4416–24.","Leti Acciaro A, Garagnani L, Lando M, Lana D, Sartini S, Adani R. Modified dome osteotomy and anterior locking plate fixation for distal radius variant of Madelung deformity: a retrospective study. J Plast Surg Hand Surg. 2022;56(2):121–6. DOI: 10.1080/2000656X.2021.1934845","Liu Q., Lyu H., Xu B., Lee J.H. Madelung disease epidemiology and clinical characteristics: a systemic review. Aesthetic Plast Surg. 2021;45(3):977–86. DOI: 10.1007/s00266-020-02083-5","Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review. J Laryngol Otol. 2012;126(7):756–8. DOI: 10.1017/S0022215112000709","Kratz C., Lenard H.G., Ruzicka T., Gärtner J. Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation. Eur J Paediatr Neurol. 2000;4(2):63–7. DOI: 10.1053/ejpn.2000.0264","Nounla J., Rolle U., Gräfe G., Kräling K. Benign symmetric lipomatosis with myelomeningocele in an adolescent: An uncommon association-case report. J Pediatr Surg. 2001;36(7):E13. DOI: 10.1053/jpsu.2001.24776","Madelung O.W. Über den Fetthals (diffuses Lipom des Halses). Arch Klin Chir. 1888;37:106-30.","Lanois P.E., Bensaude R. De ladeno-lipomatosesymetrique. Bull Mem Soc Med Hosp. 1898;1:298.","El Ouahabi H., Doubi S., Lahlou K., Boujraf S., Ajdi F. Launois-bensaude syndrome: A benign symmetric lipomatosis without alcohol association. Ann Afr Med. 2017;16(1):33–4. DOI: 10.4103/1596-3519.202082","Chen C.Y., Fang Q.Q., Wang X.F., Zhang M.X., Zhao W.Y., Shi B.H., et al. Madelung’s disease: lipectomy or liposuction? Biomed Res Int. 2018;3975974. DOI: 10.1155/2018/3975974","Coker J.E., Bryan J.A. Endocrine and metabolic disorders: Causes and pathogenesis of obesity. J. Fam. Pract. 2008;4:21–6.","González-García R., Rodríguez-Campo F.J., Sastre-Pérez J., Muñoz-Guerra M.F. Benign symmetric lipomatosis (Madelung’s disease): case reports and current management. Aesthetic Plast Surg. 2004;28(2):108– 12; discussion 113. DOI: 10.1007/s00266-004-3123-5","Holme E., Larsson N.G., Oldfors A., Tulinius M., Sahlin P., Stenman G. Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet. 1993r;52(3):551–6. PMID: 8447321","Мазунин И.О., Володько Н.В., Стариковская Е.Б., Сукерник Р.И. Митохондриальный геном и митохондриальные заболевания человека. Молекулярная биология. 2010;44(5):755–72.","Celentano V., Esposito E., Perrotta S., Giglio M.C., Tarquini R., Luglio G., et al. Madelung disease: report of a case and review of the literature. Acta Chir Belg. 2014;114(6):417–20. PMID: 26021689","Lemaitre M., Chevalier B., Jannin A., Bourry J., Espiard S., Vantyghem M.C. Multiple symmetric and multiple familial lipomatosis. Presse Med. 2021;50(3):104077. DOI: 10.1016/j.lpm.2021.104077","Вецмадян Е.А., Труфанов Г.Е., Рязанов В.В., Мостовая О.Т., Новиков К.В., Карайванов Н.С. Ультразвуковая диагностика липом мягких тканей с использованием методик цветного допплеровского картирования и эластографии. Вестник Российской Военно-медицинской академии. 2012;2(38):43–50.","Богов А.А., Андреев П.С., Филиппов В.Л., Топыркин В.Г. Оперативное лечение болезни Маделунга. Практическая медицина. 2018;16(7-1):90–3.","Уракова Е.В., Нестеров О.В., Ильина Р.Ю., Лексин Р.В. Хирургическая тактика при рецидивирующем липоматозе (болезни Маделунга). Клинический случай. Практическая медицина. 2022;20(6):131–3.","Егай А.А., Тентимишев А.Э., Норматов Р.М., Тян А.С. Хирургическое лечение множественного симметричного липоматоза (болезнь Маделунга), осложненного сдавлением яремных вен с обеих сторон. Преимущества липэктомии перед липосакцией. Научное обозрение. Медицинские науки. 2022;1:5– 10. DOI: 10.17513/srms.1225","Тимербулатов М.В., Шорнина А.С., Лихтер Р.А., Каипов А.Э. Оценка липосакции в структуре абдоминопластики и сочетанной герниоабдоминопластики. Креативная хирургия и онкология. 2023;13(4):278–83. DOI: 10.24060/2076-3093-2023-13-4-278-283","Dang Y., Du X., Ou X., Zheng Q., Xie F. Advances in diagnosis and treatment of Madelung’s deformity. Am J Transl Res. 2023;15(7):4416–24.","Leti Acciaro A, Garagnani L, Lando M, Lana D, Sartini S, Adani R. Modified dome osteotomy and anterior locking plate fixation for distal radius variant of Madelung deformity: a retrospective study. J Plast Surg Hand Surg. 2022;56(2):121–6. DOI: 10.1080/2000656X.2021.1934845"],"dc.citation.ru":["Liu Q., Lyu H., Xu B., Lee J.H. Madelung disease epidemiology and clinical characteristics: a systemic review. Aesthetic Plast Surg. 2021;45(3):977–86. DOI: 10.1007/s00266-020-02083-5","Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review. J Laryngol Otol. 2012;126(7):756–8. DOI: 10.1017/S0022215112000709","Kratz C., Lenard H.G., Ruzicka T., Gärtner J. Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation. Eur J Paediatr Neurol. 2000;4(2):63–7. DOI: 10.1053/ejpn.2000.0264","Nounla J., Rolle U., Gräfe G., Kräling K. Benign symmetric lipomatosis with myelomeningocele in an adolescent: An uncommon association-case report. J Pediatr Surg. 2001;36(7):E13. DOI: 10.1053/jpsu.2001.24776","Madelung O.W. Über den Fetthals (diffuses Lipom des Halses). Arch Klin Chir. 1888;37:106-30.","Lanois P.E., Bensaude R. De ladeno-lipomatosesymetrique. Bull Mem Soc Med Hosp. 1898;1:298.","El Ouahabi H., Doubi S., Lahlou K., Boujraf S., Ajdi F. Launois-bensaude syndrome: A benign symmetric lipomatosis without alcohol association. Ann Afr Med. 2017;16(1):33–4. DOI: 10.4103/1596-3519.202082","Chen C.Y., Fang Q.Q., Wang X.F., Zhang M.X., Zhao W.Y., Shi B.H., et al. Madelung’s disease: lipectomy or liposuction? Biomed Res Int. 2018;3975974. DOI: 10.1155/2018/3975974","Coker J.E., Bryan J.A. Endocrine and metabolic disorders: Causes and pathogenesis of obesity. J. Fam. Pract. 2008;4:21–6.","González-García R., Rodríguez-Campo F.J., Sastre-Pérez J., Muñoz-Guerra M.F. Benign symmetric lipomatosis (Madelung’s disease): case reports and current management. Aesthetic Plast Surg. 2004;28(2):108– 12; discussion 113. DOI: 10.1007/s00266-004-3123-5","Holme E., Larsson N.G., Oldfors A., Tulinius M., Sahlin P., Stenman G. Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet. 1993r;52(3):551–6. PMID: 8447321","Мазунин И.О., Володько Н.В., Стариковская Е.Б., Сукерник Р.И. Митохондриальный геном и митохондриальные заболевания человека. Молекулярная биология. 2010;44(5):755–72.","Celentano V., Esposito E., Perrotta S., Giglio M.C., Tarquini R., Luglio G., et al. Madelung disease: report of a case and review of the literature. Acta Chir Belg. 2014;114(6):417–20. PMID: 26021689","Lemaitre M., Chevalier B., Jannin A., Bourry J., Espiard S., Vantyghem M.C. Multiple symmetric and multiple familial lipomatosis. Presse Med. 2021;50(3):104077. DOI: 10.1016/j.lpm.2021.104077","Вецмадян Е.А., Труфанов Г.Е., Рязанов В.В., Мостовая О.Т., Новиков К.В., Карайванов Н.С. Ультразвуковая диагностика липом мягких тканей с использованием методик цветного допплеровского картирования и эластографии. Вестник Российской Военно-медицинской академии. 2012;2(38):43–50.","Богов А.А., Андреев П.С., Филиппов В.Л., Топыркин В.Г. Оперативное лечение болезни Маделунга. Практическая медицина. 2018;16(7-1):90–3.","Уракова Е.В., Нестеров О.В., Ильина Р.Ю., Лексин Р.В. Хирургическая тактика при рецидивирующем липоматозе (болезни Маделунга). Клинический случай. Практическая медицина. 2022;20(6):131–3.","Егай А.А., Тентимишев А.Э., Норматов Р.М., Тян А.С. Хирургическое лечение множественного симметричного липоматоза (болезнь Маделунга), осложненного сдавлением яремных вен с обеих сторон. Преимущества липэктомии перед липосакцией. Научное обозрение. Медицинские науки. 2022;1:5– 10. DOI: 10.17513/srms.1225","Тимербулатов М.В., Шорнина А.С., Лихтер Р.А., Каипов А.Э. Оценка липосакции в структуре абдоминопластики и сочетанной герниоабдоминопластики. Креативная хирургия и онкология. 2023;13(4):278–83. DOI: 10.24060/2076-3093-2023-13-4-278-283","Dang Y., Du X., Ou X., Zheng Q., Xie F. Advances in diagnosis and treatment of Madelung’s deformity. Am J Transl Res. 2023;15(7):4416–24.","Leti Acciaro A, Garagnani L, Lando M, Lana D, Sartini S, Adani R. Modified dome osteotomy and anterior locking plate fixation for distal radius variant of Madelung deformity: a retrospective study. J Plast Surg Hand Surg. 2022;56(2):121–6. DOI: 10.1080/2000656X.2021.1934845"],"dc.citation.en":["Liu Q., Lyu H., Xu B., Lee J.H. Madelung disease epidemiology and clinical characteristics: a systemic review. Aesthetic Plast Surg. 2021;45(3):977–86. DOI: 10.1007/s00266-020-02083-5","Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review. J Laryngol Otol. 2012;126(7):756–8. DOI: 10.1017/S0022215112000709","Kratz C., Lenard H.G., Ruzicka T., Gärtner J. Multiple symmetric lipomatosis: an unusual cause of childhood obesity and mental retardation. Eur J Paediatr Neurol. 2000;4(2):63–7. DOI: 10.1053/ejpn.2000.0264","Nounla J., Rolle U., Gräfe G., Kräling K. Benign symmetric lipomatosis with myelomeningocele in an adolescent: An uncommon association-case report. J Pediatr Surg. 2001;36(7):E13. DOI: 10.1053/jpsu.2001.24776","Madelung O.W. Über den Fetthals (diffuses Lipom des Halses). Arch Klin Chir. 1888;37:106-30.","Lanois P.E., Bensaude R. De ladeno-lipomatosesymetrique. Bull Mem Soc Med Hosp. 1898;1:298.","El Ouahabi H., Doubi S., Lahlou K., Boujraf S., Ajdi F. Launois-bensaude syndrome: A benign symmetric lipomatosis without alcohol association. Ann Afr Med. 2017;16(1):33–4. DOI: 10.4103/1596-3519.202082","Chen C.Y., Fang Q.Q., Wang X.F., Zhang M.X., Zhao W.Y., Shi B.H., et al. Madelung’s disease: lipectomy or liposuction? Biomed Res Int. 2018;3975974. DOI: 10.1155/2018/3975974","Coker J.E., Bryan J.A. Endocrine and metabolic disorders: Causes and pathogenesis of obesity. J. Fam. Pract. 2008;4:21–6.","González-García R., Rodríguez-Campo F.J., Sastre-Pérez J., Muñoz-Guerra M.F. Benign symmetric lipomatosis (Madelung’s disease): case reports and current management. Aesthetic Plast Surg. 2004;28(2):108– 12; discussion 113. DOI: 10.1007/s00266-004-3123-5","Holme E., Larsson N.G., Oldfors A., Tulinius M., Sahlin P., Stenman G. Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet. 1993r;52(3):551–6. PMID: 8447321","Мазунин И.О., Володько Н.В., Стариковская Е.Б., Сукерник Р.И. Митохондриальный геном и митохондриальные заболевания человека. Молекулярная биология. 2010;44(5):755–72.","Celentano V., Esposito E., Perrotta S., Giglio M.C., Tarquini R., Luglio G., et al. Madelung disease: report of a case and review of the literature. Acta Chir Belg. 2014;114(6):417–20. PMID: 26021689","Lemaitre M., Chevalier B., Jannin A., Bourry J., Espiard S., Vantyghem M.C. Multiple symmetric and multiple familial lipomatosis. Presse Med. 2021;50(3):104077. DOI: 10.1016/j.lpm.2021.104077","Вецмадян Е.А., Труфанов Г.Е., Рязанов В.В., Мостовая О.Т., Новиков К.В., Карайванов Н.С. Ультразвуковая диагностика липом мягких тканей с использованием методик цветного допплеровского картирования и эластографии. Вестник Российской Военно-медицинской академии. 2012;2(38):43–50.","Богов А.А., Андреев П.С., Филиппов В.Л., Топыркин В.Г. Оперативное лечение болезни Маделунга. Практическая медицина. 2018;16(7-1):90–3.","Уракова Е.В., Нестеров О.В., Ильина Р.Ю., Лексин Р.В. Хирургическая тактика при рецидивирующем липоматозе (болезни Маделунга). Клинический случай. Практическая медицина. 2022;20(6):131–3.","Егай А.А., Тентимишев А.Э., Норматов Р.М., Тян А.С. Хирургическое лечение множественного симметричного липоматоза (болезнь Маделунга), осложненного сдавлением яремных вен с обеих сторон. Преимущества липэктомии перед липосакцией. Научное обозрение. Медицинские науки. 2022;1:5– 10. DOI: 10.17513/srms.1225","Тимербулатов М.В., Шорнина А.С., Лихтер Р.А., Каипов А.Э. Оценка липосакции в структуре абдоминопластики и сочетанной герниоабдоминопластики. Креативная хирургия и онкология. 2023;13(4):278–83. DOI: 10.24060/2076-3093-2023-13-4-278-283","Dang Y., Du X., Ou X., Zheng Q., Xie F. Advances in diagnosis and treatment of Madelung’s deformity. Am J Transl Res. 2023;15(7):4416–24.","Leti Acciaro A, Garagnani L, Lando M, Lana D, Sartini S, Adani R. Modified dome osteotomy and anterior locking plate fixation for distal radius variant of Madelung deformity: a retrospective study. J Plast Surg Hand Surg. 2022;56(2):121–6. DOI: 10.1080/2000656X.2021.1934845"],"dc.identifier.uri":["http://hdl.handle.net/123456789/8932"],"dc.date.accessioned_dt":"2025-07-09T13:59:02Z","dc.date.accessioned":["2025-07-09T13:59:02Z"],"dc.date.available":["2025-07-09T13:59:02Z"],"publication_grp":["123456789/8932"],"bi_4_dis_filter":["madelung’s disease\n|||\nMadelung’s disease","lipectomy\n|||\nlipectomy","диффузный симметричный липоматоз\n|||\nдиффузный симметричный липоматоз","шеи новообразования\n|||\nшеи новообразования","липэктомия\n|||\nлипэктомия","diffuse symmetric lipomatosis\n|||\ndiffuse symmetric lipomatosis","adipose tissue proliferation\n|||\nadipose tissue proliferation","жировой ткани разрастание\n|||\nжировой ткани разрастание","болезнь маделунга\n|||\nболезнь Маделунга","neck neoplasms\n|||\nneck neoplasms"],"bi_4_dis_partial":["липэктомия","Madelung’s disease","diffuse symmetric lipomatosis","neck neoplasms","болезнь Маделунга","adipose tissue proliferation","шеи новообразования","lipectomy","диффузный симметричный липоматоз","жировой ткани разрастание"],"bi_4_dis_value_filter":["липэктомия","Madelung’s disease","diffuse symmetric lipomatosis","neck neoplasms","болезнь Маделунга","adipose tissue proliferation","шеи новообразования","lipectomy","диффузный симметричный липоматоз","жировой ткани разрастание"],"bi_sort_1_sort":"systemic benign lipomatosis (madelung’s disease): experience of surgical treatment. clinical case","bi_sort_3_sort":"2025-07-09T13:59:02Z","read":["g0"],"_version_":1837178072511545344},{"SolrIndexer.lastIndexed":"2025-04-23T08:41:33.943Z","search.uniqueid":"2-7884","search.resourcetype":2,"search.resourceid":7884,"handle":"123456789/8774","location":["m229","l684"],"location.comm":["229"],"location.coll":["684"],"withdrawn":"false","discoverable":"true","author":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"author_keyword":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"author_ac":["mustafin, r.n.\n|||\nMustafin, R.N.","bermisheva, m.a.\n|||\nBermisheva, M.A.","karunas, a.s.\n|||\nKarunas, A.S.","akhmetshin, a.a.\n|||\nAkhmetshin, A.A.","monakhova, a.s.\n|||\nMonakhova, A.S.","khusnutdinova, e.k.\n|||\nKhusnutdinova, E.K."],"author_filter":["mustafin, r.n.\n|||\nMustafin, R.N.","bermisheva, m.a.\n|||\nBermisheva, M.A.","karunas, a.s.\n|||\nKarunas, A.S.","akhmetshin, a.a.\n|||\nAkhmetshin, A.A.","monakhova, a.s.\n|||\nMonakhova, A.S.","khusnutdinova, e.k.\n|||\nKhusnutdinova, E.K."],"dc.contributor.author_hl":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"dc.contributor.author_mlt":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"dc.contributor.author":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"dc.contributor.author_stored":["Mustafin, R.N.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Bermisheva, M.A.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Karunas, A.S.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Akhmetshin, A.A.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Monakhova, A.S.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Khusnutdinova, E.K.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen"],"dc.contributor.author.en":["Mustafin, R.N.","Bermisheva, M.A.","Karunas, A.S.","Akhmetshin, A.A.","Monakhova, A.S.","Khusnutdinova, E.K."],"dc.date.accessioned_dt":"2025-04-23T07:52:22Z","dc.date.accessioned":["2025-04-23T07:52:22Z"],"dc.date.available":["2025-04-23T07:52:22Z"],"dateIssued":["2025-01-01"],"dateIssued_keyword":["2025-01-01","2025"],"dateIssued_ac":["2025-01-01\n|||\n2025-01-01","2025"],"dateIssued.year":[2025],"dateIssued.year_sort":"2025","dc.date.issued_dt":"2025-01-01T00:00:00Z","dc.date.issued":["2025-01-01"],"dc.date.issued_stored":["2025-01-01\n|||\nnull\n|||\nnull\n|||\nnull\n|||\n"],"dc.description.abstract_hl":["Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492. 3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492. 3:c. 5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic. © 2025, Lobachevsky State University of Nizhny Novgorod. All rights reserved."],"dc.description.abstract":["Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492. 3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492. 3:c. 5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic. © 2025, Lobachevsky State University of Nizhny Novgorod. All rights reserved."],"dc.description.abstract.en":["Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492. 3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492. 3:c. 5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic. © 2025, Lobachevsky State University of Nizhny Novgorod. All rights reserved."],"dc.description.sponsorship":["Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492. 3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492. 3:c. 5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic. © 2025, Lobachevsky State University of Nizhny Novgorod. All rights reserved."],"dc.description.sponsorship.en":["Relevance: neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome occurring with a frequency of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous and subcutaneous tumors, plexiform neurofibromas, skeletal abnormalities and cognitive disorders. The study of the genetic causes of NF1 can become the basis for prenatal diagnosis and the use of new methods of treating the disease. Materials and methods: clinical and epidemiological study of NF1 patients in the Republic of Bashkortostan, sequencing the NF1 gene in their DNA samples as well as whole genome sequencing using the WGS method. To search for the pathogenic variants we found in publications by other authors, we analyzed the Scopus, WoS, ClinVar, PubMed, and SNP databases. Results: the frequency of occurrence of NF1 in the republic is 1:7407. 23 nonsense pathogenic variants in 21 exons of the NF1 gene were identified in 39 NF1 patients from 26 families. Discussion and conclusion: the frequency of development of the main clinical manifestations of NF1 in patients from the republic corresponds to data from around the world, however, plexiform neurofibromas, optic nerve gliomas, short stature and decreased intelligence were detected significantly less frequently. Of the 23 nonsense pathogenic variants we identified, 16 pathogenic variants were previously described by researchers from various countries, and 7 pathogenic variants: NM_001042492.3:c.55G>T (NP_001035957.1:p.Glu19Ter), NM_001042492.3:c.2806A>T (NP_001035957.1:p.Lys936Ter), NM_001042492. 3:c.3284T>A ( NP_001035957.1:p.Leu1095Ter), NM_001042492. 3:c. 5014G>T ( NP_001035957.1:p.Gly1672Ter), NM_001042492.3:c.5242C>T (NP_001035957.1:p.Arg1748Ter), NM_001042492.3:c.7365T>G (NP_001035957.1:p.Tyr2455Ter) and NM_001042492.3:c.7482G>A (NP_001035957.1:p.Trp2494Ter) have been identified for the first time in the word. Patients with nonsense pathogenic variants have significantly higher rates of brain tumors and epilepsy compared to all NF1 patients in the republic. © 2025, Lobachevsky State University of Nizhny Novgorod. All rights reserved."],"dc.doi":["10.24412/2500-2295-2025-1-91-105"],"dc.doi.en":["10.24412/2500-2295-2025-1-91-105"],"dc.identifier.issn":["2500-2287"],"dc.identifier.uri":["http://hdl.handle.net/123456789/8774"],"dc.language.iso":["en"],"dc.language.iso.en":["en"],"dc.publisher":["Lobachevsky State University of Nizhny Novgorod"],"dc.publisher.en":["Lobachevsky State University of Nizhny Novgorod"],"dc.relation.ispartofseries":["Opera Medica et Physiologica;v. 12 № 1"],"dc.relation.ispartofseries.en":["Opera Medica et Physiologica;v. 12 № 1"],"subject":["genotype-phenotypic correlations","neurofibromatosis type 1","NF1 gene","nonsense pathogenic variants","treatment","Scopus"],"subject_keyword":["genotype-phenotypic correlations","genotype-phenotypic correlations","neurofibromatosis type 1","neurofibromatosis type 1","NF1 gene","NF1 gene","nonsense pathogenic variants","nonsense pathogenic variants","treatment","treatment","Scopus","Scopus"],"subject_ac":["genotype-phenotypic correlations\n|||\ngenotype-phenotypic correlations","neurofibromatosis type 1\n|||\nneurofibromatosis type 1","nf1 gene\n|||\nNF1 gene","nonsense pathogenic variants\n|||\nnonsense pathogenic variants","treatment\n|||\ntreatment","scopus\n|||\nScopus"],"subject_tax_0_filter":["genotype-phenotypic correlations\n|||\ngenotype-phenotypic correlations","neurofibromatosis type 1\n|||\nneurofibromatosis type 1","nf1 gene\n|||\nNF1 gene","nonsense pathogenic variants\n|||\nnonsense pathogenic variants","treatment\n|||\ntreatment","scopus\n|||\nScopus"],"subject_filter":["genotype-phenotypic correlations\n|||\ngenotype-phenotypic correlations","neurofibromatosis type 1\n|||\nneurofibromatosis type 1","nf1 gene\n|||\nNF1 gene","nonsense pathogenic variants\n|||\nnonsense pathogenic variants","treatment\n|||\ntreatment","scopus\n|||\nScopus"],"dc.subject_mlt":["genotype-phenotypic correlations","neurofibromatosis type 1","NF1 gene","nonsense pathogenic variants","treatment","Scopus"],"dc.subject":["genotype-phenotypic correlations","neurofibromatosis type 1","NF1 gene","nonsense pathogenic variants","treatment","Scopus"],"dc.subject.en":["genotype-phenotypic correlations","neurofibromatosis type 1","NF1 gene","nonsense pathogenic variants","treatment","Scopus"],"title":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"title_keyword":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"title_ac":["analysis of clinical manifestations of neurofibromatosis type 1 in patients with nonsense pathogenic variants in the nf1 gene from the republic of bashkortostan\n|||\nANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title_sort":"ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN","dc.title_hl":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title_mlt":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title_stored":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen"],"dc.title.en":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title.alternative":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.title.alternative.en":["ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN"],"dc.type":["Article"],"dc.type.en":["Article"],"publication_grp":["123456789/8774"],"bi_2_dis_filter":["mustafin, r.n.\n|||\nMustafin, R.N.","bermisheva, m.a.\n|||\nBermisheva, M.A.","akhmetshin, a.a.\n|||\nAkhmetshin, A.A.","khusnutdinova, e.k.\n|||\nKhusnutdinova, E.K.","karunas, a.s.\n|||\nKarunas, A.S.","monakhova, a.s.\n|||\nMonakhova, A.S."],"bi_2_dis_partial":["Karunas, A.S.","Khusnutdinova, E.K.","Akhmetshin, A.A.","Mustafin, R.N.","Monakhova, A.S.","Bermisheva, M.A."],"bi_2_dis_value_filter":["Karunas, A.S.","Khusnutdinova, E.K.","Akhmetshin, A.A.","Mustafin, R.N.","Monakhova, A.S.","Bermisheva, M.A."],"bi_4_dis_filter":["genotype-phenotypic correlations\n|||\ngenotype-phenotypic correlations","nf1 gene\n|||\nNF1 gene","nonsense pathogenic variants\n|||\nnonsense pathogenic variants","treatment\n|||\ntreatment","scopus\n|||\nScopus","neurofibromatosis type 1\n|||\nneurofibromatosis type 1"],"bi_4_dis_partial":["genotype-phenotypic correlations","treatment","Scopus","nonsense pathogenic variants","neurofibromatosis type 1","NF1 gene"],"bi_4_dis_value_filter":["genotype-phenotypic correlations","treatment","Scopus","nonsense pathogenic variants","neurofibromatosis type 1","NF1 gene"],"bi_sort_1_sort":"analysis of clinical manifestations of neurofibromatosis type 1 in patients with nonsense pathogenic variants in the nf1 gene from the republic of bashkortostan","bi_sort_2_sort":"2025","bi_sort_3_sort":"2025-04-23T07:52:22Z","read":["g0"],"_version_":1830182132343898112},{"SolrIndexer.lastIndexed":"2021-04-20T11:27:11.576Z","search.uniqueid":"2-4987","search.resourcetype":2,"search.resourceid":4987,"handle":"123456789/5900","location":["m229","l683"],"location.comm":["229"],"location.coll":["683"],"withdrawn":"false","discoverable":"true","author":["СМАГИНА, Г.И.","ТУЙГУНОВ, М. М.","АКБЕРОВА, Г. Г.","Smagina, G.I.","Tuigunov, M.M.","Akberova, G.G."],"author_keyword":["СМАГИНА, Г.И.","ТУЙГУНОВ, М. М.","АКБЕРОВА, Г. Г.","Smagina, G.I.","Tuigunov, M.M.","Akberova, G.G."],"author_ac":["смагина, г.и.\n|||\nСМАГИНА, Г.И.","туйгунов, м. м.\n|||\nТУЙГУНОВ, М. М.","акберова, г. г.\n|||\nАКБЕРОВА, Г. Г.","smagina, g.i.\n|||\nSmagina, G.I.","tuigunov, m.m.\n|||\nTuigunov, M.M.","akberova, g.g.\n|||\nAkberova, G.G."],"author_filter":["смагина, г.и.\n|||\nСМАГИНА, Г.И.","туйгунов, м. м.\n|||\nТУЙГУНОВ, М. М.","акберова, г. г.\n|||\nАКБЕРОВА, Г. Г.","smagina, g.i.\n|||\nSmagina, G.I.","tuigunov, m.m.\n|||\nTuigunov, M.M.","akberova, g.g.\n|||\nAkberova, G.G."],"dc.contributor.author_hl":["СМАГИНА, Г.И.","ТУЙГУНОВ, М. М.","АКБЕРОВА, Г. Г.","Smagina, G.I.","Tuigunov, M.M.","Akberova, G.G."],"dc.contributor.author_mlt":["СМАГИНА, Г.И.","ТУЙГУНОВ, М. М.","АКБЕРОВА, Г. Г.","Smagina, G.I.","Tuigunov, M.M.","Akberova, G.G."],"dc.contributor.author":["СМАГИНА, Г.И.","ТУЙГУНОВ, М. М.","АКБЕРОВА, Г. Г.","Smagina, G.I.","Tuigunov, M.M.","Akberova, G.G."],"dc.contributor.author_stored":["СМАГИНА, Г.И.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nru_RU","ТУЙГУНОВ, М. М.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nru_RU","АКБЕРОВА, Г. Г.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nru_RU","Smagina, G.I.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Tuigunov, M.M.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen","Akberova, G.G.\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen"],"dc.contributor.author.ru_RU":["СМАГИНА, Г.И.","ТУЙГУНОВ, М. М.","АКБЕРОВА, Г. Г."],"dc.contributor.author.en":["Smagina, G.I.","Tuigunov, M.M.","Akberova, G.G."],"dc.date.accessioned_dt":"2021-03-31T07:10:26Z","dc.date.accessioned":["2021-03-31T07:10:26Z"],"dc.date.available":["2021-03-31T07:10:26Z"],"dateIssued":["2021-01-01"],"dateIssued_keyword":["2021-01-01","2021"],"dateIssued_ac":["2021-01-01\n|||\n2021-01-01","2021"],"dateIssued.year":[2021],"dateIssued.year_sort":"2021","dc.date.issued_dt":"2021-01-01T00:00:00Z","dc.date.issued":["2021-01-01"],"dc.date.issued_stored":["2021-01-01\n|||\nnull\n|||\nnull\n|||\nnull\n|||\n"],"dc.identifier.other":["УДК: 579.61"],"dc.identifier.other.ru_RU":["УДК: 579.61"],"dc.identifier.uri":["http://hdl.handle.net/123456789/5900"],"dc.description.abstract_hl":["В процессе написания статьи мы провели теоретическое исследование проблемы распространения внутрибольничных стафилококковых инфекций, изучили специальную медицинскую литературу, свежие публикации по этой теме, истории болезни пациентов. В ходе исследования был поведен анализ свойств, морфологии, факторов патогенности, вирулентности и персистенции золотистого стафилококка, а также изучены клинические проявления, вызванных им заболеваний. Установлено, что способность золотистого стафилококка вызывать ВБИ связана с множественной устойчивостью этого возбудителя к защитным факторам иммунитета, высокой способности к генетической мутации с возникновением антибиотико-устойчивых штаммов."],"dc.description.abstract":["В процессе написания статьи мы провели теоретическое исследование проблемы распространения внутрибольничных стафилококковых инфекций, изучили специальную медицинскую литературу, свежие публикации по этой теме, истории болезни пациентов. В ходе исследования был поведен анализ свойств, морфологии, факторов патогенности, вирулентности и персистенции золотистого стафилококка, а также изучены клинические проявления, вызванных им заболеваний. Установлено, что способность золотистого стафилококка вызывать ВБИ связана с множественной устойчивостью этого возбудителя к защитным факторам иммунитета, высокой способности к генетической мутации с возникновением антибиотико-устойчивых штаммов."],"dc.description.abstract.ru_RU":["В процессе написания статьи мы провели теоретическое исследование проблемы распространения внутрибольничных стафилококковых инфекций, изучили специальную медицинскую литературу, свежие публикации по этой теме, истории болезни пациентов. В ходе исследования был поведен анализ свойств, морфологии, факторов патогенности, вирулентности и персистенции золотистого стафилококка, а также изучены клинические проявления, вызванных им заболеваний. Установлено, что способность золотистого стафилококка вызывать ВБИ связана с множественной устойчивостью этого возбудителя к защитным факторам иммунитета, высокой способности к генетической мутации с возникновением антибиотико-устойчивых штаммов."],"dc.publisher":["Международный центр научного партнерства «Новая Наука» (ИП Ивановская Ирина Игоревна) (Петрозаводск)"],"dc.publisher.ru_RU":["Международный центр научного партнерства «Новая Наука» (ИП Ивановская Ирина Игоревна) (Петрозаводск)"],"dc.relation.ispartofseries":["PROSPECTIVE RESEARCH SOLUTIONS сборник статей III Международного научно-исследовательского конкурса. Петрозаводск, 2021;"],"dc.source":["PROSPECTIVE RESEARCH SOLUTIONS\nПетрозаводск, 18 января 2021 года"],"dc.source.en":["PROSPECTIVE RESEARCH SOLUTIONS\nПетрозаводск, 18 января 2021 года"],"subject":["ВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","ЗОЛОТИСТЫЙ СТАФИЛОКОКК","ПЕРСИСТЕНЦИЯ","ПАТОГЕННОСТЬ","ВИРУЛЕНТНОСТЬ","ИММУНИТЕТ","ГЕНЕТИЧЕСКИЕ МУТАЦИИ","АНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","NOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","STAPHYLOCOCCUS AUREUS","PERSISTENCE","PATHOGENICITY","VIRULENCE","IMMUNITY","GENETIC MUTATIONS","ANTIBIOTIC-RESISTANT STRAINS"],"subject_keyword":["ВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","ВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","ЗОЛОТИСТЫЙ СТАФИЛОКОКК","ЗОЛОТИСТЫЙ СТАФИЛОКОКК","ПЕРСИСТЕНЦИЯ","ПЕРСИСТЕНЦИЯ","ПАТОГЕННОСТЬ","ПАТОГЕННОСТЬ","ВИРУЛЕНТНОСТЬ","ВИРУЛЕНТНОСТЬ","ИММУНИТЕТ","ИММУНИТЕТ","ГЕНЕТИЧЕСКИЕ МУТАЦИИ","ГЕНЕТИЧЕСКИЕ МУТАЦИИ","АНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","АНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","NOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","NOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","STAPHYLOCOCCUS AUREUS","STAPHYLOCOCCUS AUREUS","PERSISTENCE","PERSISTENCE","PATHOGENICITY","PATHOGENICITY","VIRULENCE","VIRULENCE","IMMUNITY","IMMUNITY","GENETIC MUTATIONS","GENETIC MUTATIONS","ANTIBIOTIC-RESISTANT STRAINS","ANTIBIOTIC-RESISTANT STRAINS"],"subject_ac":["внутрибольничные инфекции (вби)\n|||\nВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","золотистый стафилококк\n|||\nЗОЛОТИСТЫЙ СТАФИЛОКОКК","персистенция\n|||\nПЕРСИСТЕНЦИЯ","патогенность\n|||\nПАТОГЕННОСТЬ","вирулентность\n|||\nВИРУЛЕНТНОСТЬ","иммунитет\n|||\nИММУНИТЕТ","генетические мутации\n|||\nГЕНЕТИЧЕСКИЕ МУТАЦИИ","антибиотико-устойчивые штаммы\n|||\nАНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","nosocomial infections (nosocomial infections)\n|||\nNOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","staphylococcus aureus\n|||\nSTAPHYLOCOCCUS AUREUS","persistence\n|||\nPERSISTENCE","pathogenicity\n|||\nPATHOGENICITY","virulence\n|||\nVIRULENCE","immunity\n|||\nIMMUNITY","genetic mutations\n|||\nGENETIC MUTATIONS","antibiotic-resistant strains\n|||\nANTIBIOTIC-RESISTANT STRAINS"],"subject_tax_0_filter":["внутрибольничные инфекции (вби)\n|||\nВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","золотистый стафилококк\n|||\nЗОЛОТИСТЫЙ СТАФИЛОКОКК","персистенция\n|||\nПЕРСИСТЕНЦИЯ","патогенность\n|||\nПАТОГЕННОСТЬ","вирулентность\n|||\nВИРУЛЕНТНОСТЬ","иммунитет\n|||\nИММУНИТЕТ","генетические мутации\n|||\nГЕНЕТИЧЕСКИЕ МУТАЦИИ","антибиотико-устойчивые штаммы\n|||\nАНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","nosocomial infections (nosocomial infections)\n|||\nNOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","staphylococcus aureus\n|||\nSTAPHYLOCOCCUS AUREUS","persistence\n|||\nPERSISTENCE","pathogenicity\n|||\nPATHOGENICITY","virulence\n|||\nVIRULENCE","immunity\n|||\nIMMUNITY","genetic mutations\n|||\nGENETIC MUTATIONS","antibiotic-resistant strains\n|||\nANTIBIOTIC-RESISTANT STRAINS"],"subject_filter":["внутрибольничные инфекции (вби)\n|||\nВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","золотистый стафилококк\n|||\nЗОЛОТИСТЫЙ СТАФИЛОКОКК","персистенция\n|||\nПЕРСИСТЕНЦИЯ","патогенность\n|||\nПАТОГЕННОСТЬ","вирулентность\n|||\nВИРУЛЕНТНОСТЬ","иммунитет\n|||\nИММУНИТЕТ","генетические мутации\n|||\nГЕНЕТИЧЕСКИЕ МУТАЦИИ","антибиотико-устойчивые штаммы\n|||\nАНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","nosocomial infections (nosocomial infections)\n|||\nNOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","staphylococcus aureus\n|||\nSTAPHYLOCOCCUS AUREUS","persistence\n|||\nPERSISTENCE","pathogenicity\n|||\nPATHOGENICITY","virulence\n|||\nVIRULENCE","immunity\n|||\nIMMUNITY","genetic mutations\n|||\nGENETIC MUTATIONS","antibiotic-resistant strains\n|||\nANTIBIOTIC-RESISTANT STRAINS"],"dc.subject_mlt":["ВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","ЗОЛОТИСТЫЙ СТАФИЛОКОКК","ПЕРСИСТЕНЦИЯ","ПАТОГЕННОСТЬ","ВИРУЛЕНТНОСТЬ","ИММУНИТЕТ","ГЕНЕТИЧЕСКИЕ МУТАЦИИ","АНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","NOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","STAPHYLOCOCCUS AUREUS","PERSISTENCE","PATHOGENICITY","VIRULENCE","IMMUNITY","GENETIC MUTATIONS","ANTIBIOTIC-RESISTANT STRAINS"],"dc.subject":["ВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","ЗОЛОТИСТЫЙ СТАФИЛОКОКК","ПЕРСИСТЕНЦИЯ","ПАТОГЕННОСТЬ","ВИРУЛЕНТНОСТЬ","ИММУНИТЕТ","ГЕНЕТИЧЕСКИЕ МУТАЦИИ","АНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","NOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","STAPHYLOCOCCUS AUREUS","PERSISTENCE","PATHOGENICITY","VIRULENCE","IMMUNITY","GENETIC MUTATIONS","ANTIBIOTIC-RESISTANT STRAINS"],"dc.subject.ru_RU":["ВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","ЗОЛОТИСТЫЙ СТАФИЛОКОКК","ПЕРСИСТЕНЦИЯ","ПАТОГЕННОСТЬ","ВИРУЛЕНТНОСТЬ","ИММУНИТЕТ","ГЕНЕТИЧЕСКИЕ МУТАЦИИ","АНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ"],"dc.subject.en":["NOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","STAPHYLOCOCCUS AUREUS","PERSISTENCE","PATHOGENICITY","VIRULENCE","IMMUNITY","GENETIC MUTATIONS","ANTIBIOTIC-RESISTANT STRAINS"],"title":["ИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ","STUDYING THE ROLE OF STAPHYLOCOCCUS AUREUS IN THE DISTRIBUTION OF INTROSCOPIC INFECTIONS"],"title_keyword":["ИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ","STUDYING THE ROLE OF STAPHYLOCOCCUS AUREUS IN THE DISTRIBUTION OF INTROSCOPIC INFECTIONS"],"title_ac":["изучение роли staphylococcus aureus в распространении внутрибольничных инфекций\n|||\nИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ","studying the role of staphylococcus aureus in the distribution of introscopic infections\n|||\nSTUDYING THE ROLE OF STAPHYLOCOCCUS AUREUS IN THE DISTRIBUTION OF INTROSCOPIC INFECTIONS"],"dc.title_sort":"ИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ","dc.title_hl":["ИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ","STUDYING THE ROLE OF STAPHYLOCOCCUS AUREUS IN THE DISTRIBUTION OF INTROSCOPIC INFECTIONS"],"dc.title_mlt":["ИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ","STUDYING THE ROLE OF STAPHYLOCOCCUS AUREUS IN THE DISTRIBUTION OF INTROSCOPIC INFECTIONS"],"dc.title":["ИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ","STUDYING THE ROLE OF STAPHYLOCOCCUS AUREUS IN THE DISTRIBUTION OF INTROSCOPIC INFECTIONS"],"dc.title_stored":["ИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nru_RU","STUDYING THE ROLE OF STAPHYLOCOCCUS AUREUS IN THE DISTRIBUTION OF INTROSCOPIC INFECTIONS\n|||\nnull\n|||\nnull\n|||\nnull\n|||\nen"],"dc.title.ru_RU":["ИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ"],"dc.title.en":["STUDYING THE ROLE OF STAPHYLOCOCCUS AUREUS IN THE DISTRIBUTION OF INTROSCOPIC INFECTIONS"],"dc.title.alternative":["STUDYING THE ROLE OF STAPHYLOCOCCUS AUREUS IN THE DISTRIBUTION OF INTROSCOPIC INFECTIONS","ИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ"],"dc.title.alternative.en":["STUDYING THE ROLE OF STAPHYLOCOCCUS AUREUS IN THE DISTRIBUTION OF INTROSCOPIC INFECTIONS"],"dc.title.alternative.ru_RU":["ИЗУЧЕНИЕ РОЛИ STAPHYLOCOCCUS AUREUS В РАСПРОСТРАНЕНИИ ВНУТРИБОЛЬНИЧНЫХ ИНФЕКЦИЙ"],"dc.type":["Article"],"dc.type.ru_RU":["Article"],"dc.abstract":["In the process of writing this article, we carried out a theoretical study of the problem of the spread of nosocomial staphylococcal infections, studied special medical literature, recent publications on this topic, patient histories. In the course of the study, the analysis of the properties, morphology, factors of pathogenicity, virulence and persistence of Staphylococcus aureus was carried out, as well as the clinical manifestations of the diseases caused by it were studied. It has been established that the ability of Staphylococcus aureus to cause nosocomial infections is associated with multiple resistance of this pathogen to protective factors of immunity, a high ability to genetic mutation with the emergence of antibiotic-resistant strains."],"dc.abstract.en":["In the process of writing this article, we carried out a theoretical study of the problem of the spread of nosocomial staphylococcal infections, studied special medical literature, recent publications on this topic, patient histories. In the course of the study, the analysis of the properties, morphology, factors of pathogenicity, virulence and persistence of Staphylococcus aureus was carried out, as well as the clinical manifestations of the diseases caused by it were studied. It has been established that the ability of Staphylococcus aureus to cause nosocomial infections is associated with multiple resistance of this pathogen to protective factors of immunity, a high ability to genetic mutation with the emergence of antibiotic-resistant strains."],"publication_grp":["123456789/5900"],"bi_2_dis_filter":["туйгунов, м. м.\n|||\nТУЙГУНОВ, М. М.","акберова, г. г.\n|||\nАКБЕРОВА, Г. Г.","smagina, g.i.\n|||\nSmagina, G.I.","смагина, г.и.\n|||\nСМАГИНА, Г.И.","akberova, g.g.\n|||\nAkberova, G.G.","tuigunov, m.m.\n|||\nTuigunov, M.M."],"bi_2_dis_partial":["АКБЕРОВА, Г. Г.","Smagina, G.I.","Akberova, G.G.","ТУЙГУНОВ, М. М.","Tuigunov, M.M.","СМАГИНА, Г.И."],"bi_2_dis_value_filter":["АКБЕРОВА, Г. Г.","Smagina, G.I.","Akberova, G.G.","ТУЙГУНОВ, М. М.","Tuigunov, M.M.","СМАГИНА, Г.И."],"bi_4_dis_filter":["nosocomial infections (nosocomial infections)\n|||\nNOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","genetic mutations\n|||\nGENETIC MUTATIONS","золотистый стафилококк\n|||\nЗОЛОТИСТЫЙ СТАФИЛОКОКК","antibiotic-resistant strains\n|||\nANTIBIOTIC-RESISTANT STRAINS","генетические мутации\n|||\nГЕНЕТИЧЕСКИЕ МУТАЦИИ","патогенность\n|||\nПАТОГЕННОСТЬ","pathogenicity\n|||\nPATHOGENICITY","persistence\n|||\nPERSISTENCE","антибиотико-устойчивые штаммы\n|||\nАНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","персистенция\n|||\nПЕРСИСТЕНЦИЯ","внутрибольничные инфекции (вби)\n|||\nВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","вирулентность\n|||\nВИРУЛЕНТНОСТЬ","immunity\n|||\nIMMUNITY","staphylococcus aureus\n|||\nSTAPHYLOCOCCUS AUREUS","virulence\n|||\nVIRULENCE","иммунитет\n|||\nИММУНИТЕТ"],"bi_4_dis_partial":["АНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","IMMUNITY","PERSISTENCE","ЗОЛОТИСТЫЙ СТАФИЛОКОКК","VIRULENCE","ВИРУЛЕНТНОСТЬ","ПАТОГЕННОСТЬ","PATHOGENICITY","GENETIC MUTATIONS","ГЕНЕТИЧЕСКИЕ МУТАЦИИ","ВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","NOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","STAPHYLOCOCCUS AUREUS","ИММУНИТЕТ","ПЕРСИСТЕНЦИЯ","ANTIBIOTIC-RESISTANT STRAINS"],"bi_4_dis_value_filter":["АНТИБИОТИКО-УСТОЙЧИВЫЕ ШТАММЫ","IMMUNITY","PERSISTENCE","ЗОЛОТИСТЫЙ СТАФИЛОКОКК","VIRULENCE","ВИРУЛЕНТНОСТЬ","ПАТОГЕННОСТЬ","PATHOGENICITY","GENETIC MUTATIONS","ГЕНЕТИЧЕСКИЕ МУТАЦИИ","ВНУТРИБОЛЬНИЧНЫЕ ИНФЕКЦИИ (ВБИ)","NOSOCOMIAL INFECTIONS (NOSOCOMIAL INFECTIONS)","STAPHYLOCOCCUS AUREUS","ИММУНИТЕТ","ПЕРСИСТЕНЦИЯ","ANTIBIOTIC-RESISTANT STRAINS"],"bi_sort_1_sort":"изучение роли staphylococcus aureus в распространении внутрибольничных инфекций","bi_sort_2_sort":"2021","bi_sort_3_sort":"2021-03-31T07:10:26Z","read":["g0"],"_version_":1697558593887272960}]},"facet_counts":{"facet_queries":{},"facet_fields":{},"facet_dates":{},"facet_ranges":{},"facet_intervals":{}},"highlighting":{"2-6968":{"dc.description.abstract":[" factors, which included the severity of COVID-19, acute coronary syndrome, multiple organ failure"],"dc.description.abstract.en":[" factors, which included the severity of COVID-19, acute coronary syndrome, multiple organ failure"],"dc.description.abstract_hl":[" factors, which included the severity of COVID-19, acute coronary syndrome, multiple organ failure"]},"2-5407":{"dc.description.abstract":[" vessels, multiple fistulas without distal narrowing, distal portion of the fistula not accessible"],"dc.description.abstract.en":[" vessels, multiple fistulas without distal narrowing, distal portion of the fistula not accessible"],"dc.description.abstract_hl":[" vessels, multiple fistulas without distal narrowing, distal portion of the fistula not accessible"]},"2-6671":{"dc.description.abstract":[" modification and pointed out the need for data integration using mathematic\nmodelling of the multiple ceramic"],"dc.description.abstract.en":[" modification and pointed out the need for data integration using mathematic\nmodelling of the multiple ceramic"],"dc.description.abstract_hl":[" modification and pointed out the need for data integration using mathematic\nmodelling of the multiple ceramic"]},"2-7933":{"dc.description.abstract":[", the median level of the multiplicity of the tolerant load was significantly higher than that in the control"],"dc.description.abstract.en":[", the median level of the multiplicity of the tolerant load was significantly higher than that in the control"],"dc.description.abstract_hl":[", the median level of the multiplicity of the tolerant load was significantly higher than that in the control"]},"2-7992":{"dc.description.abstract":[" soil stressors considerably impede global agricultural productivity. Multiple research efforts have"],"dc.description.abstract.en":[" soil stressors considerably impede global agricultural productivity. Multiple research efforts have"],"dc.description.abstract_hl":[" soil stressors considerably impede global agricultural productivity. Multiple research efforts have"]},"2-2561":{"dc.description.abstract":[" on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from"],"dc.description.abstract.en":[" on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from"],"dc.description.abstract_hl":[" on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from"]},"2-3931":{"dc.description.abstract":[" conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were"],"dc.description.abstract.en":[" conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were"],"dc.description.abstract_hl":[" conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were"]},"2-8043":{"dc.citation.en":["Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review"],"dc.citation.ru":["Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review"],"dc.citation":["Sia K.J., Tang I.P., Tan T.Y. Multiple symmetrical lipomatosis: case report and literature review"]},"2-7884":{"dc.description.abstract":[" of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous"],"dc.description.sponsorship.en":[" of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous"],"dc.description.abstract.en":[" of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous"],"dc.description.abstract_hl":[" of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous"],"dc.description.sponsorship":[" of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous"]},"2-4987":{"dc.abstract.en":[" of Staphylococcus aureus to cause nosocomial infections is associated with multiple resistance of this pathogen"],"dc.abstract":[" of Staphylococcus aureus to cause nosocomial infections is associated with multiple resistance of this pathogen"]}}} -->