Results 51 to 60 of about 1,170,712 (223)

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

Beyond Joint Hypermobility: Investigating Bladder Dysfunction in Hypermobile Ehlers‐Danlos Syndrome

Neurourology and Urodynamics, EarlyView.
ABSTRACT Introduction and Objectives Hypermobile Ehlers‐Danlos Syndrome (hEDS) is the most common subtype of Ehlers‐Danlos Syndrome, a group of connective tissue disorders caused by collagen abnormalities. While musculoskeletal features of hEDS are well characterized, its impact on visceral organs, including the bladder, remains underexplored.
Marium Ansari, Mallory Pine, Viktoriya Sapkalova, Emily Chan Brodowsky, Charles R. Powell, Ramzy T. Burns   +5 more
wiley   +1 more source

The Ehlers–Danlos syndromes, rare types [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017
The Ehlers–Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis ...
Brady, Angela F, Demirdas, Serwet, Fournel-Gigleux, Sylvie, Ghali, Neeti, Giunta, Cecilia, Kapferer-Seebacher, Ines, Kosho, Tomoki, Mendoza-Londono, Roberto, Pope, Michael F, Rohrbach, Marianne, Van Damme, Tim, Vandersteen, Anthony, van Mourik, Caroline, Voermans, Nicol, Zschocke, Johannes, Malfait, Fransiska   +15 more
openaire   +4 more sources

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Late conversion after endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome

Journal of Vascular Surgery Cases and Innovative Techniques, 2019
Vascular Ehlers-Danlos syndrome is associated with life-threatening events. The management of the disease is challenging because of the emergency presentation of symptoms and the tissue friability of the aorta.
Georgios Karaolanis, MD, MSc, PhD, Özgun Sensebat, MD, Giovanni Torsello, MD, Theodosios Bisdas, MD, Konstantinos P. Donas, MD   +4 more
doaj   +1 more source

Management of shoulder instability in hypermobility-type Ehlers-Danlos syndrome

JSES Reviews, Reports, and Techniques, 2021
Shoulder instability in hypermobile Ehlers-Danlos syndrome can result in lifelong pain and functional disability. Treatment in this population is complicated by the severe degree of instability as well as the underlying abnormalities of the joint ...
Samuel E. Broida, BS, Aidan P. Sweeney, MS, Michael B. Gottschalk, MD, Eric R. Wagner, MD, MS   +3 more
doaj   +1 more source

Comparative diagnostic challenges in two horses with skin fragility disorders

Equine Veterinary Education, EarlyView.
Summary Hereditary equine regional dermal asthenia (HERDA) is an autosomal recessive connective tissue disorder of horses caused by a missense mutation (c.115G>A) in the peptidyl‐prolyl cis–trans isomerase B (PPIB) gene, resulting in defective collagen organisation.
M. Biolchi, F. A. Saiki, T. G. Cristo, M. C. Silva, R. J. Souza, A. F. Souza, R. A. Casagrande, J. H. Fonteque, C. I. G. Vogel   +8 more
wiley   +1 more source

Surgical and medical treatment of ocular disease in a dog with Ehlers–Danlos syndrome

Clinical Case Reports, 2017
Key Clinical Message Correctional surgery was performed on a 3‐year‐old intact male shih tzu presenting with Ehlers–Danlos syndrome, ocular disease, and skin fold dermatitis.
Søren N. Rasch
doaj   +1 more source

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments

Haemophilia, EarlyView.
ABSTRACT Rare bleeding disorders (RBDs) represent a diverse group of inherited conditions involving coagulation factors or platelets. These conditions, such as Glanzmann thrombasthenia (GT) or severe coagulation factor deficiencies, are uncommon. In contrast, bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion without an identifiable ...
Alessandro Casini, Robert Klamroth, Bauke Haisma, Dino Mehic, Saskia E. M. Schols   +4 more
wiley   +1 more source

Suspected Mitochondrial Dysfunction and Complex Pathophysiology in Fatal Hypermobile Ehlers–Danlos Syndrome: Insights from a Case Report and Post-Mortem Findings

Biomedicines
Background/Objectives: Hypermobile Ehlers–Danlos Syndrome (hEDS) is a complex connective tissue disorder with multi-systemic manifestations that significantly impact quality of life.
Arash Shirvani, Purusha Shirvani, Ugochukwu Jonah, Brian E. Moore, Michael F. Holick   +4 more
doaj   +1 more source