Results 31 to 40 of about 1,012,341 (230)

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

Surgical Case Reports, 2023
Background Ehlers-Danlos syndrome is an inherited connective-tissue disorder characterized by skin hyperextensibility, joint hypermobility, and tissue fragility.
Taichi Horino, Yuji Miyamoto, Mayuko Ohuchi, Katsuhiro Ogawa, Naoya Yoshida, Takatoshi Ishiko, Chieko Kukinaka, Rumi Sasaki, Takashi Ohba, Hideo Baba   +9 more
doaj   +1 more source

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

Journal 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, Gry Velvin, Kerstin Fugl-Meyer, Ingeborg Beate Lidal   +3 more
doaj   +1 more source

Understanding the psychosocial impact of Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility Type: A qualitative interview study [PDF]

, 2019
Purpose: Little attention has been paid to psychosocial factors in Joint Hypermobility Syndrome and Ehlers–Danlos Syndrome (hypermobility type). This study sought to identify the psychosocial impact by examining participants’ lived experiences; and ...
Palmer, Shea, Moss, Timothy, Bennett, Sarah E., Bennett, Sarah, Walsh, Nicola   +4 more
core   +1 more source

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

Cardiogenetics, 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, E. Overwater, M.T. Dirksen, S. Simsek, S. Demirdas, A.C. Houweling   +5 more
doaj   +1 more source

A review of Ehlers-Danlos syndrome

JAAPA, 2020
ABSTRACT Ehlers-Danlos syndrome (EDS) describes a group of heritable disorders of connective tissue comprising mutations in the genes involved in the structure and/or biosynthesis of collagen. Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders.
Erin, Miller, John M, Grosel
openaire   +3 more sources

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

Romanian 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, Madalina Cristina Leanca, Serban Hamei, Liliana Padure, Andrada Mirea   +4 more
doaj   +1 more source

Síndroma de Ehlers-Danlos – Uma causa rara de pneumotórax espontâneo

Revista Portuguesa de Pneumologia, 2006
Resumo: A síndroma de Ehlers-Danlos (cutis hyperelastica), constitui uma patologia do tecido conjuntivo caracterizada por alterações da pele, ligamentos e órgãos internos.Apresenta transmissão hereditária, em geral autossómica dominante.
Carlos Lopes, Alda Manique, Renato Sotto-Mayor, Jorge Cruz, Margarida Mendes de Almeida, João Cravino, A Bugalho de Almeida   +6 more
doaj   +1 more source

Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos Syndrome [PDF]

, 1998
We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury.
Rossi, Peter I., Friedman, Steven G., Scher, Larry A., Boxer, Robert A., Bialer, Martin G., Hall, Michae H.   +5 more
core   +1 more source

A unique collaborative model providing supportive and self-advocacy tools to the rare disease community

Rare
The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS.
Juliette M. Harris, Jacqui Fish, Jared Griffin, Gemma Hasnaoui, Clare Stacey, Neeti Ghali, Fleur S. van Dijk   +6 more
doaj   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source