Results 51 to 60 of about 24,908 (251)

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

open access: yesCurrent 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   +2 more
doaj   +1 more source

A review of Ehlers-Danlos syndrome

open access: yesJAAPA, 2020
ABSTRACT Ehlers-Danlos syndrome (EDS) describes a group of heritable disorders of connective tissue comprising mutations in the genes involved in the structure and/or biosynthesis of collagen. Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders.
Erin, Miller, John M, Grosel
openaire   +3 more sources

Hypermobile Ehlers-Danlos Syndrome during Pregnancy, Birth and Beyond: A Review of Midwifery Care Considerations [PDF]

open access: yes, 2018
The Ehlers-Danlos Syndromes (EDS) are an underdiagnosed group of conditions with implications and risks associated with childbearing. Those with EDS suggest that healthcare professionals have a lack of awareness in this area, and consequently describe ...
Pearce, Gemma   +2 more
core   +2 more sources

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

open access: yesAnimal 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   +1 more
wiley   +1 more source

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

open access: yesEuropean 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   +3 more
doaj   +1 more source

Visceroptosis and the Ehlers-Danlos Syndrome [PDF]

open access: yesCureus, 2017
The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.
Kucera, Stephen, Sullivan, Stephen N
openaire   +2 more sources

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

open access: yesArthroscopy, 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   +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]

open access: yes, 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.   +9 more
core   +2 more sources

Arthroscopic Anterior and Posterior Glenohumeral Capsular Augmentation With Gracilis Allograft

open access: yesArthroscopy Techniques, EarlyView.
Abstract Multidirectional instability in patients with connective tissue disorders such as Ehlers‐Danlos syndrome (EDS) is difficult to treat due to poor tissue quality and frequent failure of standard repairs. We describe an arthroscopic technique using gracilis tendon allografts to perform an anterior and posterior capsular augmentation in the ...
Michael D. Maloney   +5 more
wiley   +1 more source

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]

open access: yes, 2018
Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia   +12 more
core   +1 more source

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