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1Academic Journal
Authors: Yu. A. Lutokhina, O. V. Blagova, P. O. Savina, E. V. Zaklyazminskaya, Ю. А. Лутохина, О. В. Благова, П. О. Савина, Е. В. Заклязьминская
Source: Rational Pharmacotherapy in Cardiology; Vol 19, No 2 (2023); 179-185 ; Рациональная Фармакотерапия в Кардиологии; Vol 19, No 2 (2023); 179-185 ; 2225-3653 ; 1819-6446
Subject Terms: хроническая сердечная недостаточность, hereditary hemorrhagic telangiectasia, pulmonary hypertension, congestive heart failure, наследственная геморрагическая телеангиэктазия, легочная гипертензия
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Relation: https://www.rpcardio.com/jour/article/view/2652/2415; https://www.rpcardio.com/jour/article/downloadSuppFile/2652/582; https://www.rpcardio.com/jour/article/downloadSuppFile/2652/583; https://www.rpcardio.com/jour/article/downloadSuppFile/2652/584; https://www.rpcardio.com/jour/article/downloadSuppFile/2652/585; https://www.rpcardio.com/jour/article/downloadSuppFile/2652/586; Kühnel T, Wirsching K, Wohlgemuth W, et al. Hereditary Hemorrhagic Telangiectasia. Otolaryngol Clin North Am. 2018;51(1):237-54. DOI:10.1016/j.otc.2017.09.017.; Robert F, Desroches-Castan A, Bailly S, et al. Future treatments for hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2020;15(1):1-10. DOI:10.1186/S13023-019-1281-4.; Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009;17(7):860-71. DOI:10.1038/EJHG.2009.35.; David L, Mallet C, Mazerbourg S, et al. Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells. Blood. 2007;109(5):1953-61. DOI:10.1182/BLOOD-2006-07-034124.; Dupuis-Girod S, Bailly S, Plauchu H. Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. J Thromb Haemost. 2010;8(7):1447-56. DOI:10.1111/J.1538-7836.2010.03860.X.; Galiè N, Humbert M, Vachiery JL, et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT). Eur Heart J. 2016;37(1):67-119. DOI:10.1093/EURHEARTJ/EHV317.; Soubrier F, Chung WK, Machado R, et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol. 2013;62(25 Suppl):D13-21. DOI:10.1016/J.JACC.2013.10.035.; Tillet E, Bailly S. Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia. Front Genet. 2015;5:456. DOI:10.3389/fgene.2014.00456.; Vorselaars VMM, Hosman AE, Westermann CJJ, et al. Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia. Int J Mol Sci. 2018;19(10):3203. DOI:10.3390/IJMS19103203.; Ishiwata T, Terada J, Tanabe N, et al. Pulmonary arterial hypertension as the first manifestation in a patient with hereditary hemorrhagic telangiectasia. Intern Med. 2014;53(20):2359-63. DOI:10.2169/internalmedicine.53.2850.; Yokokawa T, Sugimoto K, Kimishima Y, et al. Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation. Intern Med. 2020;59(2):221-7. DOI:10.2169/INTERNALMEDICINE.3625-19.; Jain D, Viswanathan S, Ramasamy C. Hereditary Hemorrhagic Telangiectasia with Unusual Associations. Cureus. 2015;7(6):1-4. DOI:10.7759/CUREUS.278.; Avecilla V. Effect of Transcriptional Regulator ID3 on Pulmonary Arterial Hypertension and Hereditary Hemorrhagic Telangiectasia. Int J Vasc Med. 2019;2019:2123906. DOI:10.1155/2019/2123906.; Kim JH, Peacock MR, George SC, et al. BMP9 induces EphrinB2 expression in endothelial cells through an Alk1-BMPRII/ActRII-ID1/ID3-dependent pathway: implications for hereditary hemorrhagic telangiectasia type II. Angiogenesis. 2012;15(3):497-509. DOI:10.1007/S10456-012-9277-X.; https://www.rpcardio.com/jour/article/view/2652
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2Academic Journal
Authors: A. V. Belopasova, P. S. Shlapakova, L. A. Dobrynina, A. S. Kadykov, А. В. Белопасова, П. С. Шлапакова, Л. А. Добрынина, А. С. Кадыков
Contributors: The investigation has not been sponsored, Исследование не имело спонсорской поддержки
Source: Neurology, Neuropsychiatry, Psychosomatics; Vol 15, No 6 (2023); 78-84 ; Неврология, нейропсихиатрия, психосоматика; Vol 15, No 6 (2023); 78-84 ; 2310-1342 ; 2074-2711 ; 10.14412/2074-2711-2023-6
Subject Terms: инсульт в молодом возрасте, hereditary hemorrhagic telangiectasia, Rendu–Osler–Weber disease, pulmonary arteriovenous malformation, paradoxical embolism, stroke at a young age, наследственная геморрагическая телеангиэктазия, болезнь Рандю–Ослера–Вебера, легочная артериовенозная мальформация, парадоксальная эмболия
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Relation: https://nnp.ima-press.net/nnp/article/view/2142/1609; Добрынина ЛА, Калашникова ЛА, Павлова ЛН. Ишемический инсульт в молодом возрасте. Журнал неврологии и психиатрии им. С.С. Корсакова. 2011;111(3):4-8.; Schöberl F, Ringleb PA, Wakili R, et al. Juvenile Stroke. Dtsch Arztebl Int. 2017 Aug 7;114(31-32):527-34. doi:10.3238/arztebl.2017.0527; Hart RG, Catanese L, Perera KS, et al. Embolic Stroke of Undetermined Source: A Systematic Review and Clinical Update. Stroke. 2017 Apr;48(4):867-72. doi:10.1161/STROKEAHA.116.016414. Epub 2017 Mar 6.; Кулеш АА, Демин ДА, Виноградов ОИ. Криптогенный инсульт. Часть 1: аорто-артериальная эмболия. Медицинский совет. 2021;(4):78-87. doi:10.21518/2079-701X-2021-4-78-87; Li L, Yiin GS, Geraghty OC, et al; Oxford Vascular Study. Incidence, outcome, risk factors, and long-term prognosis of cryptogenic transient ischaemic attack and ischaemic stroke: a population-based study. Lancet Neurol. 2015 Sep;14(9):903-13. doi:10.1016/S14744422(15)00132-5. Epub 2015 Jul 27.; Putaala J, Nieminen T, Haapaniemi E, et al. Undetermined stroke with an embolic pattern – a common phenotype with high early recurrence risk. Ann Med. 2015;47(5):406-13. doi:10.3109/07853890.2015.1057612. Epub 2015 Aug 4.; Faughnan ME, Mager JJ, Hetts SW, et al. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi:10.7326/M20-1443. Epub 2020 Sep 8.; Rendu M. Epistaxis repetes chez unsujet porteur de petits angiomies cutaneset muqueux. Bulletins et Memoires de la Societe Medicale des Hopitaux de Paris. 1886;13:731-3 (In French).; Osler W. On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes. Johns Hopkins Med J. 1901;12:333.; Weber FP. Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring haemorrhages. Lancet. 1907;170:160-2.; Hanes FM. Multiple hereditary telangiectases causing hemorrhages. Bull John Hopkins Hospital. 1909;20:63-73.; Macri A, Wilson AM, Shafaat O, Sharma S. Osler-Weber-Rendu disease (hereditary hemorrhagic telangiectasia, HHT). In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing LLC. 2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482361/; Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-OslerWeber syndrome). Am J Med Genet. 2000 Mar 6;91(1):66-7. doi:10.1002/(sici)10968628(20000306)91:13.0.co;2-p; Faughnan ME, Palda VA, Garcia-Tsao G, et al; HHT Foundation International – Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet. 2011 Feb;48(2):73-87. doi:10.1136/jmg.2009.069013. Epub 2009 Jun 23.; Pahl KS, Choudhury A, Wusik K, et al. Applicability of the CuraНao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population. J Pediatr. 2018 Jun;197:207-13. doi:10.1016/j.jpeds.2018.01.079. Epub 2018 Apr 11.; Morgan T, McDonald J, Anderson C, et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome). Pediatrics. 2002 Jan;109(1):E12. doi:10.1542/peds.109.1.e12; Schoonderwoerd MJA, Goumans MTH, Hawinkels LJAC. Endoglin: Beyond the Endothelium. Biomolecules. 2020 Feb 12;10(2):289. doi:10.3390/biom10020289; Berg J, Porteous M, Reinhardt D, et al. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J Med Genet. 2003 Aug;40(8):585-90. doi:10.1136/jmg.40.8.585; Bayrak-Toydemir P, McDonald J, Markewitz B, et al. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A. 2006 Mar 1;140(5):463-70. doi:10.1002/ajmg.a.31101; McDonald J, Wooderchak-Donahue W, VanSant Webb C, et al. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 2015 Jan 26;6:1. doi:10.3389/fgene.2015.00001; Halpern M, Turner AF, Citron BP. Hereditary hemorrhagic telangiectasia. An angiographic study of abdominal visceral angiodysplasias associated with gastrointestinal hemorrhage. Radiology. 1968 Jun;90(6):1143-9. doi:10.1148/90.6.1143; Dupuis-Girod S, Cottin V, Shovlin CL. The Lung in Hereditary Hemorrhagic Telangiectasia. Respiration. 2017;94(4):315-30. doi:10.1159/000479632. Epub 2017 Aug 30.; White RI Jr, Lynch-Nyhan A, Terry P, et al. Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology. 1988 Dec;169(3):663-9. doi:10.1148/radiology.169.3.3186989; Белопасова АВ, Добрынина ЛА, Калашникова ЛА и др. Легочный артериовенозный шунт – редкая причина рецидивирующих нарушений мозгового кровообращения по механизму парадоксальной эмболии. Журнал неврологии и психиатрии им. С.С. Корсакова. 2020;120(9):107-13. doi:10.17116/jnevro2020120091107; Байдарова МД, Тупикин КА, Андрейцева ОИ. Наследственная геморагическая телеангиэктазия: современные проблемы диагностики и тактики хирургического лечения. Доказательная гастроэнтерология. 2016;(4):36-43. doi:10.17116/dokgastro20165436-43; Кулеш АА, Демин ДА, Белопасова АВ и др. Криптогенный инсульт. Часть 2: парадоксальная эмболия. Медицинский совет. 2021;(19):16-33. doi:10.21518/2079701X-2021-19-16-33; Shovlin CL, Jackson JE, Bamford KB, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. 2008 Mar;63(3):259-66. doi:10.1136/thx.2007.087452. Epub 2007 Nov 2.; Jauss M, Zanette E. Detection of right-toleft shunt with ultrasound contrast agent and transcranial Doppler sonography. Cerebrovasc Dis. 2000 Nov-Dec;10(6):490-6. doi:10.1159/000016119; Silvestry FE, Cohen MS, Armsby LB, et al; American Society of Echocardiography; Society for Cardiac Angiography and Interventions. Guidelines for the Echocardiographic Assessment of Atrial Septal Defect and Patent Foramen Ovale: From the American Society of Echocardiography and Society for Cardiac Angiography and Interventions. J Am Soc Echocardiogr. 2015 Aug;28(8):910-58. doi:10.1016/j.echo.2015.05.015; Чечеткин АО, Каршиева АР, Кравченко МА и др. Легочный артерио-венозный шунт как причина парадоксальной церебральной эмболии: возможности ультразвуковой диагностики. Известия Российской Военно-медицинской академии. 2019;38(3):162-4. doi:10.17816/rmmar26170
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3
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4Academic Journal
Authors: ЩЕГЛОВ Д.В., НОСЕНКО Н.Н., КОНОТОПЧИК С.В., ЧЕБАНЮК С.В.
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5Academic Journal
Source: Эндоваскулярная нейрорентгенохирургия.
Subject Terms: АРТЕРИОВЕНОЗНЫЕ МАЛЬФОРМАЦИИ,НАСЛЕДСТВЕННАЯ ГЕМОРРАГИЧЕСКАЯ ТЕЛЕАНГИЭКТАЗИЯ,БОЛЕЗНЬ ОСЛЕРА-РЕНДЮ-ВЕБЕРА,ДИАГНОСТИКА,АРТЕРіОВЕНОЗНі МАЛЬФОРМАЦії,СПАДКОВА ГЕМОРАГіЧНА ТЕЛЕАНГіЕКТАЗіЯ,ХВОРОБА ОСЛЕРА-РЕНДЮ-ВЕБЕРА,ДіАГНОСТИКА,ARTERIOVENOUS MALFORMATIONS,HEREDITARY HEMORRHAGIC TELANGIECTASIA,OSLER-RENDU-WEBER DISEASE,DIAGNOSIS, 3. Good health
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6Academic Journal
Authors: Белопасова А.В., Добрынина Л.А., Калашникова Л.А., Чечеткин А.О., Каршиева А.Р., Абугов С.А., Марданян Г.В., Пурецкий М.В., Штеклейн А.В.
Source: Zhurnal Nevrologii i Psihiatrii imeni S.S. Korsakova
Subject Terms: young stroke, pulmonary arteriovenous malformations, pulmonary shunt, pulmonary fistula, paradoxical embolism, Hereditary hemorrhagic telangiectasia, Rendu-Osler-Weber disease, инсульт в молодом возрасте, Легочные артериовенозные мальформации, легочный шунт, легочная фистула, парадоксальная эмболия, наследственная геморрагическая телеангиэктазия, болезнь Рандю-Ослера-Вебера
Availability: https://repository.rudn.ru/records/article/record/67529/
