Results 31 to 40 of about 1,915,478 (171)

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

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

Journal of Medical Case Reports, 2013
Introduction Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen.
Kashizaki Fumihiro, Hatamochi Atsushi, Kamiya Kazunori, Yoshizu Akira, Okamoto Hiroaki   +4 more
doaj   +1 more source

Obstructive sleep apnea in a case of ehlers-danlos syndrome

Respiratory Medicine Case Reports, 2022
Ehlers-Danlos Syndrome (EDS) is a group of rare connective tissue disorders characterized by genetic defects in collagen and connective tissue synthesis and structure, with manifestations ranging from asymptomatic or mild skin and joint hyperlaxity to ...
Stephanie J. Mitri, Alain M. Sabri, Marie-Louise M. Coussa-Koniski   +2 more
doaj   +1 more source

Cervicoplastia na flacidez cutânea por síndrome de Ehlers-Danlos: relato de caso Cervicoplasty in cutaneous laxity from Ehlers-Danlos syndrome: a case report

Revista Brasileira de Cirurgia Plástica, 2010
INTRODUÇÃO: A síndrome de Ehlers-Danlos é um distúrbio raro, caracterizado por anormalidades diversas na estrutura, síntese e secreção do colágeno, resultando em um quadro clínico variado, com alterações cutâneas, articulares e vasculares.
Márcio Rocha Crisóstomo, Victor José Timbó Gondim, André Nunes Benevides, Mara Rocha Crisóstomo, Salustiano Gomes de Pinho Pessoa   +4 more
doaj   +1 more source

Vascular Complications From Anterior Spine Surgery in Three Patients With Ehlers-Danlos Syndrome

, 2009
Study Design. A case report of vascular complications arising from anterior spine surgery in 3 patients with Ehlers-Danlos syndrome (EDS)
Sponseller, Paul D., Yang, Justin S., Johnston, Charles E., Muharrem Yazici, Charles E. Johnston, Justin S. Yang, YAZICI, MUHARREM, Paul D. Sponseller   +7 more
core   +1 more source

An acquired or heritable connective tissue disorder? a review of hypermobile Ehlers Danlos Syndrome [PDF]

, 2019
Hypermobile Ehlers Danlos Syndrome (hEDS) is a multifaceted disorder that is difficult to diagnose and manage primarily due to the unknown causes. Research on hEDS continues to evolve but tangible progress will be realized when the growing body of ...
Martin, A.
core   +1 more source

Inducible Laryngeal Obstruction in Hypermobile Patients

The Laryngoscope, EarlyView.
Patients with hypermobile Ehlers‐Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD) who screened positive for inducible laryngeal obstruction (ILO) reported significantly greater voice, cough, swallowing, gastrointestinal, and mast cell‐related symptoms than those without ILO. Chronic cough, dysphagia, and elevated mast cell symptom score
Stacey M. Menton, DeLisa Fairweather, Frances C. Wilson, Derek J. Zangerle, Emma F. Murphy, Ashley A. Darakjian, Chandler C. Thompson, Shilpa N. Gajarawala, Dacre R. T. Knight, Katelyn A. Bruno, Amy L. Rutt   +10 more
wiley   +1 more source

Incretin‐Based Therapies: A Testable Hypothesis Linking Incretin Signaling, Mitochondrial Redox, and OXPHOS Efficiency

Obesity, EarlyView.
ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee, Caroline M. Apovian, Nawfal Istfan   +2 more
wiley   +1 more source

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

Frontiers in Genetics, 2023
Vascular Ehlers–Danlos syndrome (vEDS), the most severe type of Ehlers–Danlos syndrome, is caused by an autosomal-dominant defect in the COL3A1 gene. In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a man who
Xianda Wei, Xianda Wei, Xu Zhou, BoBo Xie, BoBo Xie, Meizhen Shi, Meizhen Shi, Chunrong Gui, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui, Baoheng Gui   +15 more
doaj   +1 more source

MYLK c.4079G>A, p.(Gly1360Asp) Variant Associated With Hereditary Thoracic Aortic Diseases and Early Onset Aortic Dissection

Annals of Human Genetics, EarlyView.
ABSTRACT Aims Thoracic aortic aneurysms and dissections are major causes of sudden cardiovascular death. We aimed to evaluate the clinical significance of the MYLK c.4079G>A, p.(Gly1360Asp) variant in Finnish families with heritable thoracic aortic disease (HTAD) and to assess evidence for a potential founder effect.
Minja Virtanen, Sini Keskinen, Rikhard Björn, Minna Paavola, Pia Pohjola, Marja Hietala, Maria K. Haanpää, Markus Malmberg, Elisa Rahikkala   +8 more
wiley   +1 more source