Zobrazeno 1 - 10
of 377
pro vyhledávání: '"vascular Ehlers–Danlos syndrome"'
Autor:
FU Yining, ZHOU Jingmin, LI Feng, HUANG Shangzhi, WANG Yining, HONG Xia, LYU Ke, LIU Yaping, LENG Ling, ZHENG Wenjie, QIU Zhengqing, ZHU Yicheng, ZHENG Yuehong, CHEN Yuexin
Publikováno v:
罕见病研究, Vol 3, Iss 2, Pp 224-231 (2024)
The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder. The prevalence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand. The vascular EDS(vEDS) are rare among the subtypes but are
Externí odkaz:
https://doaj.org/article/8939ad54fb1c4e8fb3d504d46637b607
Autor:
Amit Manhas, Dipti Tripathi, Chikage Noishiki, David Wu, Lu Liu, Karim Sallam, Jason T. Lee, Eri Fukaya, Nazish Sayed
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103485- (2024)
Vascular Ehlers-Danlos Syndrome (vEDS) is an inherited connective tissue disorder caused by COL3A1 gene, mutations that encodes type III collagen, a crucial component of blood vessels. vEDS can be life-threatening as these patients can have severe in
Externí odkaz:
https://doaj.org/article/04eafd02fa2043ed95a03dbd22e8e29f
Autor:
Moegi Yoshizaki, Yasuko Matsuo, Satoshi Yasuda, Shunsuke Doi, Takeshi Sakata, Minako Nagai, Kota Nakamura, Yuichiro Kohara, Shohei Toyoda, Toshihiro Tanaka, Masayuki Sho
Publikováno v:
Surgical Case Reports, Vol 10, Iss 1, Pp 1-6 (2024)
Abstract Background Ehlers–Danlos syndrome (EDS) is a genetic disorder that causes fragility of the systemic connective tissues. Of the 13 subtypes, vascular EDS (vEDS) is associated with abnormalities in collagen production, resulting in arterial
Externí odkaz:
https://doaj.org/article/921d0d0ca2534e5e871053a2141cacf8
Autor:
Giacomo Buso, Federica Corvini, Elena Maria Fusco, Massimiliano Messina, Fabio Cherubini, Nicola Laera, Anna Paini, Massimo Salvetti, Carolina De Ciuceis, Marco Ritelli, Marina Venturini, Nicola Chiarelli, Marina Colombi, Maria Lorenza Muiesan
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 14, p 4255 (2024)
Vascular Ehlers–Danlos syndrome (vEDS) is a rare autosomal dominant connective tissue disease resulting from pathogenic variants in the collagen type III alpha 1 chain (COL3A1) gene, encoding type III procollagen. Patients with vEDS present with se
Externí odkaz:
https://doaj.org/article/9d3791a92e7b4ae590d738ded286920c
Autor:
Valeria Valencia-Cifuentes, Stiven Ernesto Sinisterra-Díaz, Valentina Quintana-Peña, Edgar Folleco, José A. Nastasi-Catanese, Harry Pachajoa, Juan P. Fernández-Cubillos
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
IntroductionTo date, approximately 600 unique pathogenic variants have been reported in COL3A1 associated with vascular Ehlers–Danlos syndrome (vEDS). The objective of this study was to describe a patient with a novel variant in COL3A1 associated w
Externí odkaz:
https://doaj.org/article/772613985abc4152a3e0e7990f1d8fcd
Publikováno v:
Clinical Case Reports, Vol 12, Iss 2, Pp n/a-n/a (2024)
Key Clinical Message Patients with null variants may have milder vascular Ehlers‐Danlos syndrome, presenting with seemingly non‐specific complaints and subtle cutaneous features that may be missed. A high index of suspicion and early genetic test
Externí odkaz:
https://doaj.org/article/6edf705489d2489bb1faa286baf6f610
Case Report: Hybrid approach as a Rescue Treatment in a patient with vascular Ehlers–Danlos Syndrome
Publikováno v:
Frontiers in Surgery, Vol 10 (2023)
Vascular Ehlers-Danlos Syndrome (vEDS) is a rare connective tissue disorder associated with COL3A1 gene mutation encoding type III collagen. Given the possible fatal prognosis if not treated timely, it is important to suspect and diagnose as soon as
Externí odkaz:
https://doaj.org/article/64b6ebcb58044a538cf4eb397e37779e
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-32 (2023)
Abstract Introduction The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic disease (sHTAD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers Danlos syndrom
Externí odkaz:
https://doaj.org/article/b919658076d34b16a68a496cd111f14f
Autor:
Simon Fraser, DO, Peter J. Rossi, MD, Eric J. Hohenwalter, MD, Joseph P. Hart, MD, Michael J. Malinowski, MD
Publikováno v:
Journal of Vascular Surgery Cases and Innovative Techniques, Vol 9, Iss 4, Pp 101002- (2023)
A 28-year-old male with history of vascular Ehlers-Danlos syndrome (VEDS) presented with left lower extremity acute limb ischemia. Computed tomography angiography demonstrated spontaneous dissection of the left common iliac artery with occlusion and
Externí odkaz:
https://doaj.org/article/6380335296614eccbc4e1f0d90a9c68a
Autor:
Xianda Wei, Xu Zhou, BoBo Xie, Meizhen Shi, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Vascular Ehlers–Danlos syndrome (vEDS), the most severe type of Ehlers–Danlos syndrome, is caused by an autosomal-dominant defect in the COL3A1 gene. In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a
Externí odkaz:
https://doaj.org/article/e542adf0d157448faf90ba712b0fd8fe