Surgical aspects of DiGeorge syndrome

• Раздел: Хирургия
• Язык: English
• Отправляемый файл статьи (документ Word)*: Синдром Ди-Джорджи fyuk
• Имя: Айымгүл
• Отчество: Құсайнқызы
• Фамилия: Хамидулла
• Адрес (E-mail): khamidulla.aiymgul@gmail.com
• ORCID iD: 0009-0005-9575-2778
• URL: https://orcid.org/0009-0005-9575-2778
• Организация: Национальный научный центр хирургии им.А.Н.Сызганова
• Страна: Казахстан
• Дополнительные авторы: Исмаилова Г.Н., Якупова И.А., Омарқызы И., Темирханов А.Д.
• Ключевые слова: DiGeorge syndrome, thymic hypo/aplasia, tetralogy of Fallot, thymus transplantation.
• Литература:

  1. Nain E, Kiykim A, Ogulur I, et al. Immune system defects in DiGeorge syndrome and association with clinical course. Scand J Immunol. Nov 2019;90(5):e12809. doi:10.1111/sji.128092. McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). Jan 2011;90(1):1-18. doi:10.1097/MD.0b013e31820604693. Elizondo-Plazas A, Lopez-Uriarte GA, Gonzalez-Gonzalez JG, et al. Late-Onset 22q11.2 Deletion Syndrome With Mild Cardiac Phenotype: A Unique Adult Presentation Diagnosed at 45 Years of Age. Cureus. Dec 2023;15(12):e50367. doi:10.7759/cureus.503674. Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. Aug 2011;159(2):332-9.e1. doi:10.1016/j.jpeds.2011.02.0395. Davies EG, Cheung M, Gilmour K, et al. Thymus transplantation for complete DiGeorge syndrome: European experience. J Allergy Clin Immunol. Dec 2017;140(6):1660-1670.e16. doi:10.1016/j.jaci.2017.03.0206. Lee JH, Markert ML, Hornik CP, et al. Clinical course and outcome predictors of critically ill infants with complete DiGeorge anomaly following thymus transplantation. Pediatr Crit Care Med. Sep 2014;15(7):e321-6. doi:10.1097/PCC.00000000000002197. Bernstock JD, Totten AH, Elkahloun AG, et al. Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome. J Allergy Clin Immunol. Jan 2020;145(1):358-367.e2. doi:10.1016/j.jaci.2019.09.0208. Biggs SE, Gilchrist B, May KR. Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management. Curr Allergy Asthma Rep. Apr 2023;23(4):213-222. doi:10.1007/s11882-023-01071-49. Óskarsdóttir S, Boot E, Crowley TB, et al. Updated clinical practice recommendations for managing children with 22q11. 2 deletion syndrome. Genetics in Medicine. 2023:100338. 10. Crowley TB, McGinn DM, Sullivan KE, report IqCg. 22q11.2 Deletion and Duplication Syndromes and COVID-19. J Clin Immunol. May 2022;42(4):746-748. doi:10.1007/s10875-022-01246-0

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