Клинический разбор в общей медицине

1. McGillis L, Mittal N, Santa Mina D et al. Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review. Am j med genetics. Part A. 2020;182(3):1552-4833.

2. Loeys BL, Dietz HC, Braverman AC et al. The revised ghent nosology for the marfan syndrome. J Med Genetics 2010;47:476-85.

3. Арсентьев В.Г., Кадурина Т.И., Аббакумова Л.Н. Новые принципы диагностики и классификации синдрома Элерса–Данло. Педиатр. 2018;9(1):118–25. Arsentev VG, Kadurina TI, Abbakumova LN. New principles of diagnosis and classification of the Ehlers-Danlos syndrome. Pediatrician (St. Petersburg). 2018;9(1):118-25 (in Russian).

4. Яковлев В.М. Иммунопатологические синдромы при наследственной дисплазии соединительной ткани. Ставроп. гос. мед. акад., Ом. гос. мед. акад. Ставрополь: [б. и.], 2005. Yakovlev V.M. Immunopathological syndromes in hereditary connective tissue dysplasia. Stavropol State Medical University. akad., Om. state. med. acad. Stavropol: [B. I.], 2005 (in Russian).

5. Нечаева Г.И. Дисплазия соединительной ткани: основные гастроэнтерологические проявления. Эксперим. и клин. гастроэнтерол. 2010;(6):66-9. Nechaeva G.I., Lialiukova E.A., Rozhkova M.Iu. Connective tissue dysplasia: the main gastrointestinal manifestations. Eksp Klin Gastroenterol. 2010;(6):66-9 (in Russian).

6. Barbaro MR, Cremon C, Fuschi D et al. Pathophysiology of Diverticular Disease: From Diverticula Formation to Symptom Generation. Int J Mol Sci 2022;23:6698.

7. Beighton PH, Murdoch JL, Votteler T. Gastrointestinal complications of the Ehlers-Danlos syndrome. Gut 1969;10:1004-8. DOI: 10.1136/gut. 10.12.1004

8. Stagi S, Lapi E, Chiarelli F, de Martino M. Incidence of diverticular disease and complicated diverticular disease in young patients with Williams syndrome. Pediatric Surg Int 2010;26:943-44. DOI: 10.1007/s00383-010-2666-6

9. Tursi A. Current and Evolving Concepts on the Pathogenesis of Diverticular Disease. J Gastrointestin Liver Dis 2019; 28:225-3. DOI: 10.15403/JGLD-184

10. Reichert MC, Kupcinskas J, Krawczyk M et al. Variant of COL3A1 (rs3134646) Is associated with risk of developing diverticulosis in white men. Dis Colon Rectum 2018;61:604-11. DOI: 10.1097/DCR. 0000000000001001

11. Connelly TM, Berg AS, Hegarty JP et al. The TNFSF15 gene single nucleotide polymorphism rs7848647 is associated with surgical diverticulitis. Ann Surg 2014;259:1132–7. DOI: 10.1097/SLA.0000000000000232

12. Sigurdsson S, Alexandersson KF, Sulem P et al. Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis. Nat Commun 2017;8:15789. DOI: 10.1038/ncomms15789

13. Coble JL, Sheldon KE, Yue F. et al. Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing. Hum Mol Genet 2017;26:3212-20.

14. Lindor NM, Bristow J. Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. Am J Med Genet A 2005 May 15;135(1):75-80. DOI: 10.1002/ajmg.a.30671

15. Николаева Е.А., Семячкина А.Н. Гено-фенотипическая характеристика синдрома Элерса–Данло: трудности идентификации типов заболевания и подходы к патогенетическому лечению. Рос. вестн. перинатол. и педиатр. 2021;66:(1):22-30. DOI: 10.21508/1027–4065–2021–66–1–22–30. Nikolaeva E.А., Semyachkina А.N. Geno-phenotypic characteristics of Ehlers-Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatment. Ros Vestn Perinatol i Pediatr 2021;66:(1):22-30 DOI: 10.21508/1027–4065–2021–66–1–22–30 (in Russian).