Registry of Ehlers-Danlos Syndrome
Condition: Ehlers-Danlos Syndrome Intervention: Sponsor: Luca Sangiorgi Enrolling by invitation
DiscussionCette étude a permis de mettre à jour une altération de la capacité de ces patients à utiliser les afférences proprioceptives tant pour le contrôle de l’orientation que de la stabilisation posturale.
No abstract available
This article is protected by copyright. All rights reserved. PMID: 31794058 [PubMed - as supplied by publisher]
We present the case of a 9-year-old boy with abdominal pain and retching. An abdominal computed tomography revealed free air under the diaphragm, and surgical exploration showed perforation of the sigmoid colon. Ultimately, he was diagnosed with vEDS. We review the literature and discuss the clinical presentation, diagnosis, and life-threatening crises associated with vEDS.
Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is a monogenetic disease caused by a mutation in procollagen 3A1. Clinical manifestations are arterial ruptures and dissections, as well as spontaneous ruptures of the colon, oesophagus and uterus. Expected survival is short, in historical cohorts approximately 50 years. In 2010 a French-Belgian randomized controlled trial (RCT), including 53 patients, reported a hazard ratio of only 0.36 of arterial events if patients were treated with the betablocker celiprolol , combining β1-adrenoceptor antagonist and β2-adrenoceptor agonist actions.
This study refines the phenotype recently delineated in association with biallelic null alleles in TNXB, and adds three novel variants to its mutational repertoire. Unusual digital anomalies seem confirmed as possibly peculiar of TNXB-clEDS, while vascular fragility could be more than a chance association also in this Ehlers-Danlos syndrome type.
Conclusions There are only four reports of V-EDS causing splenic rupture in the literature to date. These patients were all adults and only one had not previously been diagnosed with V-EDS. All underwent splenectomy. While V-EDS presenting with abdominal visceral rupture in children has been reported, this is the first report of a child with V-EDS presenting with splenic rupture. It is the only case of splenic rupture secondary to V-EDS that has been managed minimally invasively by embolization. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | &nb...
AbstractA unique case of a patient with Ehlers ‐Danlos type IV syndrome was referred with aortic root aneurysm and previous cosmetic primary repair of pectus excavatum (PE) through a solid silicone onlay prosthesis. The patient underwent successful removal of the silicone prosthesis and one‐stage ascending aortic root replacement with concom itant Nuss procedure for repair of the PE.
We report extensive functional studies of 16 C1R variants associated with pEDS by in-vitro overexpression studies in HEK293T cells followed by western blot, size exclusion chromatography and surface plasmon resonance analyses. Patient-derived skin fibroblasts were analyzed by western blot and Enzyme-linked Immunosorbent Assay (ELISA). Overexpression of C1R variants in HEK293T cells revealed that none of the pEDS variants was integrated into the C1 complex but cause extracellular presence of catalytic C1r/C1s activities. Variants showed domain-specific abnormalities of intracellular processing and secretion with preservatio...