Results 31 to 40 of about 1,172,427 (185)

Síndroma de Ehlers-Danlos – Uma causa rara de pneumotórax espontâneo

Revista Portuguesa de Pneumologia, 2006
Resumo: A síndroma de Ehlers-Danlos (cutis hyperelastica), constitui uma patologia do tecido conjuntivo caracterizada por alterações da pele, ligamentos e órgãos internos.Apresenta transmissão hereditária, em geral autossómica dominante.
Carlos Lopes, Alda Manique, Renato Sotto-Mayor, Jorge Cruz, Margarida Mendes de Almeida, João Cravino, A Bugalho de Almeida   +6 more
doaj   +1 more source

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

Medial Quadriceps Tendon‐Femoral Ligament Reconstruction Offers Favorable Clinical Outcomes and Low Complication Rates for Recurrent Patellar Instability: A Systematic Review

Arthroscopy, EarlyView.
Abstract Purpose To evaluate the surgical methods, clinical outcomes, and complication profile of patients undergoing medial quadriceps tendon‐femoral ligament reconstruction (MQTFLR), either isolated or as medial patellofemoral complex reconstruction (MPFCR), for recurrent patellar instability.
Harjind Kahlon, Benjamin Blackman, Prushoth Vivekanantha, Anika Ranadive, Marc Daniel Bouchard, Darren de SA, Jeffrey Kay   +6 more
wiley   +1 more source

Ehlers-Danlos syndrome with soft-tissue contractures

, 1992
We report four patients with a form of Ehlers-Danlos syndrome associated with soft-tissue contractures from birth and skin hyperalgesia. In early infancy, these cases were thought to be forms of arthrogryposis multiplex congenita, Larsen's syndrome or ...
S Oshita, S Hamada, K Hiroshima, K Ono, T Doi   +4 more
core   +1 more source

Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic

Orphanet Journal of Rare Diseases
Past research has indicated that individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobililty Spectrum Disorder (G-HSD) report psychological and psychiatric symptoms, particularly anxiety disorders and depressive symptoms, at much ...
P. Maxwell Slepian, Kristina Axenova, Molly McCarthy, Rachel Siegal, Keisha Gobin, Aliza Weinrib, Stephanie Buryk-Iggers, Daniel Santa Mina, Laura McGillis, Nimish Mittal, Joel Katz, Hance Clarke   +11 more
doaj   +1 more source

Mitochondrial Dysfunction and Its Potential Molecular Interplay in Hypermobile Ehlers–Danlos Syndrome: A Scoping Review Bridging Cellular Energetics and Genetic Pathways

Current Issues in Molecular Biology
Hypermobile Ehlers–Danlos Syndrome (hEDS) is a hereditary connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and systemic manifestations such as chronic fatigue, gastrointestinal dysfunction, and neurological ...
Purusha Shirvani, Arash Shirvani, Michael F. Holick   +2 more
doaj   +1 more source

Aortic dissection in a patient with novel frameshift COL5A1 variant of classical Ehlers-Danlos syndrome

European Journal of Case Reports in Internal Medicine, 2023
Classical Ehlers-Danlos syndrome (cEDS) is one of the 13 subtypes of Ehlers-Danlos syndrome, which has the major clinical criteria of hyperextensibility skin, atrophic scars, and generalised joint hypermobility.
Lídia Caley, Ana Campar, Teresa Mendonça, Fátima Farinha   +3 more
doaj   +1 more source

Chiari I Malformation: Review and Update of Current Treatment Options

Clinical Anatomy, EarlyView.
ABSTRACT The pathophysiology of Chiari malformation type I (CM‐I) is complex, involving structural abnormalities at the craniovertebral junction that result in herniation of the cerebellar tonsils through the foramen magnum. In this study, we aim to present and evaluate current treatment options for CM‐I, with a focus on evidence‐based clinical ...
Jordan J. Lo, Shuhei Shiino, Stephen Z. Shapiro, Brianna L. Hines, Noritaka Komune, Carmine Antonio Donofrio, Filippo Badaloni, Antonio Fioravanti, Joseph Lockwood, C. J. Bui, Aaron S. Dumont, R. Shane Tubbs   +11 more
wiley   +1 more source

Hypermobile Ehlers–Danlos syndrome and pregnancy

, 2018
Ehlers–Danlos syndromes are a clinically and genetically heterogeneous group of rare inherited connective tissue disorders. Hypermobile Ehlers–Danlos syndrome is one of the common types and not infrequently encountered in pregnancy.
Akilandeswari Karthikeyan, Narayanaswamy Venkat-Raman   +1 more
core   +1 more source

Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos Syndrome [PDF]

, 1998
We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury.
Rossi, Peter I., Friedman, Steven G., Scher, Larry A., Boxer, Robert A., Bialer, Martin G., Hall, Michae H.   +5 more
core   +1 more source