Results 21 to 30 of about 1,172,427 (185)

Investigation into the Ehlers-Danlos syndrome [PDF]

open access: yes, 1954
Since the 17th century there has been a certain confusion in diagnosis of what is now called the Ehlers-Danlos syndrome. In 1682 Meekrin described the case of a Spaniard who could make his skin stretch to an enormous extent, and appears to have confused ...
Mories, Alexander
core   +3 more sources

Ruptured ulnar artery aneurysm in vascular Ehlers-Danlos syndrome

open access: yesJournal of Vascular Surgery Cases and Innovative Techniques, 2020
Vascular Ehlers-Danlos syndrome (vEDS), also known as type IV Ehlers-Danlos syndrome, is a rare inherited connective tissue disease that affects 1 in 50,000 to 250,000 individuals.
Ryan Howard, MD, Nicholas Osborne, MD
doaj   +1 more source

Psychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a scoping review

open access: yesOrphanet Journal of Rare Diseases, 2023
Purpose To identify the nature and extent of the evidence on psychological interventions among individuals with Ehlers-Danlos Syndrome (EDS) and Hypermobility Spectrum Disorder (HSD).
Jessica Z. Song   +9 more
doaj   +1 more source

Operative repair of right intrathoracic subclavian artery aneurysms in patients with genetic arteriopathy

open access: yesJournal of Vascular Surgery Cases and Innovative Techniques, 2023
True intrathoracic subclavian artery aneurysms (SCAAs) are rare and have various etiologies. Right intrathoracic SCAAs pose specific anatomic challenges to repair.
Bryce L. French, MD   +4 more
doaj   +1 more source

Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene

open access: yesSurgical Case Reports, 2023
Background Ehlers-Danlos syndrome is an inherited connective-tissue disorder characterized by skin hyperextensibility, joint hypermobility, and tissue fragility.
Taichi Horino   +9 more
doaj   +1 more source

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of life satisfaction

open access: yesJournal of Rehabilitation Medicine, 2021
Objective: To explore life satisfaction among adults with Loeys-Dietz and those with vascular Ehlers-Danlos syndrome. Design: Postal survey in 2018. Participants and methods: Persons with molecularly verified Loeys-Dietz syndrome or vascular Ehlers ...
Heidi Johansen   +3 more
doaj   +1 more source

Molecular Defects in the Ehlers-Danlos Syndrome [PDF]

open access: yes, 1982
Several abnormalities in collagen biosynthesis have been described in patients with Ehlers-Danlos syndrome. Examples of collagen structural mutations as well as post-translational enzymatic defects have been detected.
Pinnell, Sheldon R.
core   +1 more source

Spontaneous Coronary Artery Dissection as Presenting Feature of Vascular Ehlers-Danlos Syndrome

open access: yesCardiogenetics, 2021
A spontaneous coronary artery dissection as the sole presenting feature of vascular Ehlers-Danlos syndrome is an uncommon finding. We present a 33-year-old woman with sudden onset chest pain caused by a spontaneous coronary artery dissection.
J. Bos   +5 more
doaj   +1 more source

Vascular Ehlers-Danlos syndrome with distinct histopathologic features

open access: yes, 2021
Ehlers-Danlos syndrome is a connective tissue disorders that presents with heterogeneous manifestations depending on the involved genes. Vascular Ehlers-Danlos syndrome (vEDS), also known as Ehlers-Danlos syndrome type IV, is caused by a heterozygous ...
Jang, Se Jin   +5 more
core   +1 more source

Clinical and genetic aspects in the Ehlers Danlos syndrome [PDF]

open access: yesRomanian Journal of Pediatrics, 2020
Introduction. Ehlers Danlos syndrome is a group of hereditary diseases of the connective tissue with a combined prevalence of 1 in 5,000 cases which have in common articular hyperlaxity and skin abnormalities.
Elena Silvia Shelby   +4 more
doaj   +1 more source

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