Results 31 to 40 of about 1,170,712 (223)

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

Molecular Defects in the Ehlers-Danlos Syndrome [PDF]

, 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

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

Vascular Ehlers-Danlos syndrome with distinct histopathologic features

, 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, Hee Sang Hwang, Se Jin Jang, Hwang, Hee Sang, Song, Jin Woo, Jin Woo Song   +5 more
core   +1 more source

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

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

Visceroptosis and the Ehlers-Danlos Syndrome [PDF]

Cureus, 2017
The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.
Kucera, Stephen, Sullivan, Stephen N
openaire   +2 more sources

Medial Quadriceps Tendon‐Femoral Ligament Reconstruction Offers Favorable Clinical Outcomes and Low Complication Rates for Recurrent Patellar Instability: A Systematic Review

Arthroscopy, EarlyView.
Abstract Purpose To evaluate the surgical methods, clinical outcomes, and complication profile of patients undergoing medial quadriceps tendon‐femoral ligament reconstruction (MQTFLR), either isolated or as medial patellofemoral complex reconstruction (MPFCR), for recurrent patellar instability.
Harjind Kahlon, Benjamin Blackman, Prushoth Vivekanantha, Anika Ranadive, Marc Daniel Bouchard, Darren de SA, Jeffrey Kay   +6 more
wiley   +1 more source