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1دورية أكاديمية
المؤلفون: Alexandra Menni, Georgios Tzikos, Alexandros Sarafis, Athina Ververi, George Chatziantoniou, Vasileios Rafailidis, Stavros Panidis, Patroklos Goulas, Eleni Karlafti, Stylianos Apostolidis, Olga Giouleme, Antonios Michalopoulos, Daniel Paramythiotis
المصدر: Journal of Personalized Medicine, Vol 13, Iss 8, p 1247 (2023)
مصطلحات موضوعية: vascular Ehlers–Danlos Syndrome, bowel perforation, case report, collagen, gene mutations, Medicine
الوصف: Introduction: Ehlers–Danlos syndromes (EDS) comprise a rare variety of genetic disorders, affecting all types of collagen. Herein, we describe a case of the vascular type of EDS, with coexisting segmental absence of intestinal musculature, while simultaneously performing a narrative review of the existing literature. Case Presentation: A 23-year-old male patient with a history of multiple abdominal operations due to recurrent bowel perforations and the presence of a high-output enterocutaneous fistula was admitted to our surgical department for further evaluation and treatment. After detailed diagnostic testing, the diagnosis of vascular-type EDS (vEDS) was made and a conservative therapeutic approach was adopted. In addition, a comprehensive review of the international literature was carried out by applying the appropriate search terms. Results: The diagnosis of vEDS was molecularly confirmed by means of genetic testing. The patient was treated conservatively, with parenteral nutrition and supportive methods. Thirty-four cases of bowel perforation in vEDS have been reported so far. Interestingly, this case is the second one ever to report co-existence of vEDS with Segmental Absence of Intestinal Musculature. Conclusions: Establishing the diagnosis of vEDS promptly is of vital significance in order to ensure that patients receive appropriate treatment. Due to initial non-specific clinical presentation, EDS should always be included in the differential diagnoses of young patients with unexplained perforations of the gastrointestinal tract.
وصف الملف: electronic resource
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المؤلفون: George Stavrou, Persefoni Gionga, George Chatziantoniou, Georgios Tzikos, Alexandra Menni, Stavros Panidis, Anne Shrewsbury, Katerina Kotzampassi
المصدر: World Journal of Gastrointestinal Surgery. 15:940-952
مصطلحات موضوعية: General Earth and Planetary Sciences, General Environmental Science
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cad5c8983d96d453bbe3c52354ec8a29Test
https://doi.org/10.4240/wjgs.v15.i5.940Test -
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المؤلفون: Alexandra Menni, Georgios Tzikos, George Chatziantoniou, Persefoni Gionga, Theodosios S Papavramidis, Anne Shrewsbury, George Stavrou, Katerina Kotzampassi
المصدر: World Journal of Gastrointestinal Endoscopy. 15:44-55
مصطلحات موضوعية: Critical Care Nursing, Pediatrics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c882fc71fa5ba7433c28ec9de98f416eTest
https://doi.org/10.4253/wjge.v15.i2.44Test