{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T16:28:28Z","timestamp":1750350508010},"reference-count":18,"publisher":"Japanese Society of Internal Medicine","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2019,12,1]]},"DOI":"10.2169\/internalmedicine.2983-19","type":"journal-article","created":{"date-parts":[[2019,8,5]],"date-time":"2019-08-05T22:03:05Z","timestamp":1565042585000},"page":"3441-3447","source":"Crossref","is-referenced-by-count":12,"title":["Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in &lt;i&gt;COL3A1&lt;\/i&gt;: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation"],"prefix":"10.2169","volume":"58","author":[{"given":"Kosuke","family":"Sakai","sequence":"first","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"},{"name":"Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maiko","family":"Toda","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Kyoyama","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroaki","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akitoshi","family":"Kojima","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiki","family":"Kuwabara","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumiko","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"},{"name":"Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Kikuchi","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Hirata","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaku","family":"Moriyama","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wataru","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging, Saitama Medical Center, Saitama Medical University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koichi","family":"Akutsu","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Nippon Medical School, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maki","family":"Nakai","sequence":"additional","affiliation":[{"name":"Division of Personalized Genetic Medicine, Nippon Medical School Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Yamada","sequence":"additional","affiliation":[{"name":"Division of Personalized Genetic Medicine, Nippon Medical School Hospital, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiko","family":"Gemma","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazutsugu","family":"Uematsu","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Medicine, Saitama Medical Center, Saitama Medical University, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 342: 673-680, 2000.","DOI":"10.1056\/NEJM200003093421001"},{"key":"2","unstructured":"2. Abel MD, Carrasco LR. Ehlers-Danlos syndrome: classifications, oral manifestations, and dental considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 102: 582-590, 2006."},{"key":"3","unstructured":"3. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 175: 8-26, 2017."},{"key":"4","unstructured":"4. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77: 31-37, 1998."},{"key":"5","unstructured":"5. Matsushita A, Takayanagi N, Ishiguro T, et al. A case of Ehlers-Danlos syndrome suspected from pulmonary hematoma due to disruption of the lung. Nihon Kokyuki Gakkai Zasshi (J Jpn Respir Soc) 47: 704-710, 2009 (in Japanese, Abstract in English)."},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 175: 40-47, 2017.","DOI":"10.1002\/ajmg.c.31553"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis 2: 32, 2007.","DOI":"10.1186\/1750-1172-2-32"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet 82: 1-11, 2012.","DOI":"10.1111\/j.1399-0004.2012.01858.x"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Fukui T, Sumitomo S, Ishikawa M, et al. Intercostal artery rupture associated with vascular-type Ehlers-Danlos syndrome - Report of a case. Nihon Kokyuki Geka Gakkai Zasshi (J Jpn Assoc Chest Surg) 30: 80-86, 2016 (in Japanese, Abstract in English).","DOI":"10.2995\/jacsurg.30.80"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Shields LB, Rolf CM, Davis GJ, Hunsaker JC. Sudden and unexpected death in three cases of Ehlers-Danlos syndrome type IV. J Forensic Sci 55: 1641-1645, 2010.","DOI":"10.1111\/j.1556-4029.2010.01521.x"},{"key":"11","unstructured":"11. Asai K, Toyota S, Hayakawa K, et al. Cartoid cavernous fistula in a patient with Ehlers-Danlos syndrome type IV: a case report. No Kekkan-nai Chiryo (J Neuroendovasc Ther) 7: 94-100, 2013 (in Japanese, Abstract in English)."},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genet Med 16: 881-888, 2014.","DOI":"10.1038\/gim.2014.72"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Frank M, Albuisson J, Ranque B, et al. The type of variants at the <i>COL3A1<\/i> gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet 23: 1657-1664, 2015.","DOI":"10.1038\/ejhg.2015.32"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Eagleton MJ. Arterial complications of vascular Ehlers-Danlos syndrome. J Vasc Surg 64: 1869-1880, 2016.","DOI":"10.1016\/j.jvs.2016.06.120"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Plancke A, Holder-Espinasse M, Rigau V, Manouvrier S, Claustres M, Khau Van Kien P. Homozygosity for a null allele of <i>COL3A1<\/i> results in recessive Ehlers-Danlos syndrome. Eur J Hum Genet 17: 1411-1416, 2009.","DOI":"10.1038\/ejhg.2009.76"},{"key":"16","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1016\/S0140-6736(10)60960-9","volume":"376","author":"KT Ong","year":"2010","unstructured":"16. Ong KT, Perdu J, De Backer J, et al. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet 376: 1476-1484, 2010.","journal-title":"The Lancet","ISSN":"http:\/\/id.crossref.org\/issn\/0140-6736","issn-type":"print"},{"key":"17","unstructured":"17. Nawarskas JJ, Cheng-Lai A, Frishman WH. Celiprolol: a unique selective adrenoceptor modulator. Cardiol Rev 25: 247-253, 2017."},{"key":"18","unstructured":"18. Oderich GS, Panneton JM, Bower TC, et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 42: 98-106, 2005."}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/58\/23\/58_2983-19\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,7]],"date-time":"2019-12-07T03:46:30Z","timestamp":1575690390000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/58\/23\/58_2983-19\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,1]]},"references-count":18,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.2983-19","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,1]]}}}