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The Ehlers–Danlos syndromes [PDF]

Nature Reviews Disease Primers, 2020
The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features including joint hypermobility, soft and hyperextensible skin, abnormal wound healing and easy bruising. Fourteen different types of EDS are recognized, of which the molecular cause is known for 13 types.
Malfait, Fransiska, Castori, Marco, Francomano, Clair A, Giunta, Cecilia, Kosho, Tomoki, Byers, Peter H   +5 more
openaire   +4 more sources

The GoodHope Exercise and Rehabilitation (GEAR) Program for People With Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders

Frontiers in Rehabilitation Sciences, 2021
Introduction: The Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobility Spectrum Disorders (G-HSD) comprise a heterogeneous group of genetic disorders of abnormal synthesis and/or maturation of collagen and other matricellular proteins.
Nimish Mittal, Nimish Mittal, Daniel Santa Mina, Daniel Santa Mina, Daniel Santa Mina, Stephanie Buryk-Iggers, Stephanie Buryk-Iggers, Laura Lopez-Hernandez, Laura Hussey, Alyssa Franzese, Joel Katz, Joel Katz, Joel Katz, Joel Katz, Camille Laflamme, Laura McGillis, Lianne McLean, Maxim Rachinsky, Dmitry Rozenberg, Dmitry Rozenberg, Maxwell Slepian, Aliza Weinrib, Hance Clarke, Hance Clarke, Hance Clarke   +24 more
doaj   +1 more source

Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

Frontiers in Genetics, 2023
Introduction:AEBP1-related classical-like EDS (clEDS type 2) is a rare type of Ehlers–Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical features with TNXB-related classical-like EDS (or clEDS type 1), including skin ...
Chloe Angwin, Chloe Angwin, Neeti Ghali, Neeti Ghali, Fleur Stephanie van Dijk, Fleur Stephanie van Dijk   +5 more
doaj   +1 more source

The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital

Orphanet Journal of Rare Diseases, 2021
Ehlers-Danlos Syndrome (EDS) are a heterogeneous group of genetic connective tissue disorders, and typically manifests as weak joints that subluxate/dislocate, stretchy and/or fragile skin, organ/systems dysfunction, and significant widespread pain ...
Nimish Mittal, Daniel Santa Mina, Laura McGillis, Aliza Weinrib, P. Maxwell Slepian, Maxim Rachinsky, Stephanie Buryk-Iggers, Camille Laflamme, Laura Lopez-Hernandez, Laura Hussey, Joel Katz, Lianne McLean, Dmitry Rozenberg, Louis Liu, Yvonne Tse, Colleen Parker, Arnon Adler, George Charames, Robert Bleakney, Christian Veillette, Christopher J. Nielson, Sandra Tavares, Stephanie Varriano, Juan Guzman, Hanna Faghfoury, Hance Clarke   +25 more
doaj   +1 more source

Exercise and Rehabilitation in People With Ehlers-Danlos Syndrome: A Systematic Review

Archives of Rehabilitation Research and Clinical Translation, 2022
Objective: To conduct a systematic review examining the effect of exercise and rehabilitation in people with Ehlers-Danlos syndrome (EDS). Data Sources: The following databases were systematically searched: MEDLINE, MEDLINE In-Process/ePubs, Embase ...
Stephanie Buryk-Iggers, MSc, Nimish Mittal, MD, MSc, Daniel Santa Mina, RKin, PhD, Scott C. Adams, RKin, PhD, Marina Englesakis, MLIS, Maxim Rachinsky, MD, Laura Lopez-Hernandez, MSc, PT, Laura Hussey, MSc, PT, Laura McGillis, MN, RN(EC), Lianne McLean, RN, MN, Camille Laflamme, MD, Dmitry Rozenberg, MD, PhD, Hance Clarke, MD, PhD   +12 more
doaj   +1 more source

Twin pregnancy with untyped Ehlers-Danlos syndrome requiring prompt genetic testing: A case report

Case Reports in Women's Health, 2022
Ehlers-Danlos syndrome is a rare genetic disorder that presents with a variety of pathologies depending on the disease type. Among them, vascular Ehlers-Danlos syndrome requires extremely careful management as there have been many reports of fatal ...
Shiori Ogawa, Tasuku Mariya, Yuya Fujibe, Marie Ogawa, Keiko Ikeda, Miyako Mizukami, Yoshika Kuno, Aki Ishikawa, Shinichi Ishioka, Akihiro Sakurai, Tsuyoshi Saito   +10 more
doaj   +1 more source

Diagnosis of a Von Willebrand type 2N disease in a patient with a connective tissue disorder close to Ehlers-Danlos syndrome [PDF]

Batna Journal of Medical Sciences, 2022
Ehlers Danlos syndrome is often associated with an increased bleeding tendency, this syndrome can be associated with hemostasis disorders which will worsen the patient's bleeding tendency.
Driss Benlaldj, Reda Messaoudi, Mohamed Amine Moueden, Fatima Seghier   +3 more
doaj   +1 more source

Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers–Danlos syndrome

Frontiers in Genetics, 2023
Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant inherited connective tissue condition, characterized by generalized tissue fragility with an increased risk of arterial dissection and hollow organ rupture. In women with vEDS,
Chloe Angwin, Chloe Angwin, Neeti Ghali, Neeti Ghali, Fleur Stephanie van Dijk, Fleur Stephanie van Dijk   +5 more
doaj   +1 more source

Gender dysphoria in adolescents with Ehlers–Danlos syndrome

SAGE Open Medicine, 2022
Objectives: Ehlers–Danlos Syndrome represents a family of heritable connective tissue disorders that include joint hypermobility, tissue fragility, and skin hyperextensibility.
Jordan T. Jones, William R. Black, Christine N. Moser, Eric T. Rush, Lindsey Malloy Walton   +4 more
doaj   +1 more source

Pediatric Innominate Artery Pseudoaneurysm Rupture in Vascular Ehlers-Danlos Syndrome: A Case Report

Clinical Practice and Cases in Emergency Medicine, 2021
Introduction: Ehlers-Danlos syndrome is a well classified connective tissue disorder recognized by its features of hyperextensibility of joints and hyperelasticity of the skin.
Aimee Vos, Katharine M. Burns
doaj   +1 more source