Results 41 to 50 of about 24,774 (202)

Surgical treatment of aortic aneurysms in a patient with Ehlers-Danlos syndrome [PDF]

, 2010
Ehlers-Danlos syndrome IS a rare inherited disorder of the connective tissue that has been divided Into 10 types according to the clinical course and Inheritance In type IV Ehlers-Danlos syndrome extreme fragility of the arteries Is associated with ...
Anguseva, Tanja, Belostotsky, Vladimir, Hristov, Nikola, Mitrev, Zan   +3 more
core  

Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. [PDF]

, 2013
Classic Ehlers-Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility.
Calzavara Pinton P., Chiarelli N., Colombi M., Dordoni C., Garavelli L., Manfredini E., Quinzani S., Ritelli M., Traversa M., Vascellaro A., Venturini M., Wischmeijer A., Zoppi N.   +12 more
core   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings [PDF]

, 2016
Background: To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome. Methods: Nationwide population-based matched cohort study. EDS, hypermobility syndrome and psychiatric disorders were identified through
Almqvist, C., Cederlof, M., Larsson, H., Lichtenstein, P., Ludvigsson, J.F., Serlachius, E.   +5 more
core   +8 more sources

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

Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type [PDF]

, 2016
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications ...
Carini, Giulia, Castori, Marco, Chiarelli, Nicola, Colombi, Marina, Dordoni, Chiara, Ritelli, Marco, Venturini, Marina, Zoppi, Nicoletta   +7 more
core   +4 more sources

Beighton Scoring System Use in Generalized Joint Hypermobility Studies Has Greater Scientific Rigor Than Joint‐Specific or Arthroscopy Joint Hypermobility Studies

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To compare the scientific rigor of Beighton Scoring System (BSS) use in generalized joint hypermobility (JH) studies (healthy subject injury risk/rate, physiological or kinesiological function determination) and joint‐specific or arthroscopy JH studies; to identify the most commonly used BSS score thresholds; and to describe ways to improve BSS
John Nyland, Essa Gul, Jonathon Lewis, Justin Givens, Ryan Krupp, Jarod Richards   +5 more
wiley   +1 more source

Live Imaging of Type I Collagen Assembly Dynamics in Osteoblasts Stably Expressing GFP and mCherry-Tagged Collagen Constructs [PDF]

, 2018
Type I collagen is the most abundant extracellular matrix protein in bone and other connective tissues and plays key roles in normal and pathological bone formation as well as in connective tissue disorders and fibrosis.
Bonewald, Lynda F., Dallas, Sarah L., Dusevich, Vladimir, Grillo, Michael A., Kamel-El Sayed, Suzan A., Lu, Yongbo, Phillips, Charlotte L., Tiede-Lewis, LeAnn M., Veno, Patricia A., Wang, Kun   +9 more
core   +2 more sources