Results 81 to 90 of about 1,259,928 (183)

The Ehlers-Danlos Syndrome in a Xhosa Male [PDF]

, 2018
A Xhosa male with the typical features of the Ehlers-Danlos syndrome is presented. This condition has not previously been described in an indigenous inhabitant of Southern Africa.S. Afr. Med.
Pamphlett, R
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Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Impacting Rare Diseases Healthcare by Case‐Based Telelearning: Description of the Dutch Pilot Metabolic Diseases ECHO

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are individually (ultra)rare but collectively relatively common. The Extension for Community Healthcare Outcomes (ECHO) model has been used worldwide since 2003 to disseminate knowledge and best practices in chronic diseases.
Tirza Boschma, Désirée Y. van Haaften‐Visser, Maaike C. de Vries, Roos Dijkstra, Amaya Zinck, Esmeralda Oussoren, Terry G. J. Derks, Andrea B. Haijer‐Schreuder   +7 more
wiley   +1 more source

The Ehlers-danlos syndrome in a xhosa male [PDF]

, 2019
A Xhosa male with the typical features of the Ehlers-Danlos syndrome is presented. This condition has not previously been described in an indigenous inhabitant of Southern Africa.S. Afr. Med. J., 48, 741 (1974)
Pamphlett, R., Nelson, Matilda M.
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Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

, 2016
Patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT) commonly suffer from pain. How this hereditary connective tissue disorder causes pain remains unclear although previous studies suggested it shares similar
A. Pepe, F. Camerota, G. Cruccu, LEONE, CATERINA, Celletti, C, Pepe, A, R. Baron, LA CESA, SILVIA, Baron, R, M. Di Franco, CRUCCU, Giorgio, A. Truini, DI STEFANO, GIULIA, Castori, M, M. Castori, S. La Cesa, G. Di Stefano, C. Celletti, DI FRANCO, Manuela, TRUINI, ANDREA, Camerota, F., C. Leone   +21 more
core   +1 more source

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

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
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

Ehlers-Danlos syndrome associated with acute pancreatitis [PDF]

, 1989
The Ehlers-Danlos syndrome is a polysystemic inherited connective tissue disease characterized by articular laxity, hyperelastic skin, a tendency to excessive bleeding in the presence of minimal trauma, and friability of different tissues.
Jimenez,, Sarra-Carbonell,
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Eosinophilic Gastroenteritis in a Patient with Ehlers-Danlos Syndrome - A Rare Combination

Canadian Journal of Gastroenterology, 1992
A case of eosinophilic gastroenteritis in a patient with Ehlers-Danlos syndrome who presented with abdominal pain, vomiting, diarrhea and profound weight loss is presented. Because of inability to tolerate glucocorticosteroids, symptoms were treated with
I Al-Traif, L Jewell, ABR Thomson
doaj   +1 more source

Carotid artery dissection linked to intermittent apnoeic swimming: A case–control study

Experimental Physiology, Volume 111, Issue 11, Page 4966-4978, 1 November 2026.
Abstract Internal carotid artery (ICA) dissection is a rare and potentially devastating cause of cerebral ischaemia, initiated by an intimal tear or rupture of the vasa vasorum, that can lead to an intraluminal thrombus, vascular stenosis, occlusion, or dissecting aneurysm formation.
Damian M. Bailey, Richard G. Davies, Brenig L. Gwilym, Benjamin S. Stacey, Danny Walmsley, Michael H. Lewis, Josip Butkovic, Ivan Mumlek, Brad Perry, Zvonomir Vrselja, Shigehiko Ogoh, James A. Pawelczyk, Mohamad Bashir, Richard D. White, Ian M. Williams   +14 more
wiley   +1 more source

Ehlers-Danlos Sendromu

, 2021
Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of inherited diseases with jointhypermobility, skin hyperextensibility and tissue fragility. There is no specific treatment for EDS.
Giray Bozkaya, Özlem
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