Results 41 to 50 of about 1,915,528 (208)

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

Vascular Ehlers-Danlos Syndrome

Journal of the American College of Cardiology, 2019
BACKGROUND Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder secondary to pathogenic variants within the COL3A1 gene, resulting in exceptional arterial and organ fragility and premature death. The only published clinical trial to date demonstrated the benefit of celiprolol on arterial morbimortality.
Frank, Michael, Adham, Salma, Seigle, Stéphanie, Legrand, Anne, Mirault, Tristan, Henneton, Pierrick, Albuisson, Juliette, Denarié, Nicolas, Mazzella, Jean-Michaël, Mousseaux, Elie, Messas, Emmanuel, Boutouyrie, Pierre, Jeunemaitre, Xavier   +12 more
openaire   +3 more sources

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

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

Iliac artery aneurysm endoleak management in a patient with vascular Ehlers-Danlos syndrome

Journal of Vascular Surgery Cases and Innovative Techniques
Endovascular repair has traditionally been avoided in patients with connective tissue disorders. We describe successful treatment of multiple endoleaks of an expanding common iliac artery aneurysm previously treated with an endograft in a patient with ...
Mitri K. Khoury, MD, Matthew J. Eagleton, MD   +1 more
doaj   +1 more source

Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

Journal of Medical Case Reports, 2011
Introduction Colonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include colonic strictures, extensive diverticulosis, and friable tissues.
Wolfe John, Lloyd Josephine, Purkayastha Sanjay, Aziz Omer, Rana Mariam, Ziprin Paul   +5 more
doaj   +1 more source