Results 81 to 90 of about 1,247,077 (145)

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, Volume 8, Issue 2, April 2026.
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

Could the Phenotypic Outcomes of Genetic Variability in Cells Operating in Mechanically Dynamic Environments be Influenced by a Disrupted “Cell‐ECM” Relationship? Using Cystic Fibrosis and Marfan Syndrome as an Example

open access: yesBioEssays, Volume 48, Issue 4, April 2026.
The “Cell‐Extracellular Matrix Unit” in a mechanically active environment (Centre). Mutations in ECM molecules such as fibrillin‐1 can lead to Marfan Syndrome (A), while mutations in the cellular CFTR can lead to Cystic Fibrosis (B). A combination of such mutations without a clinical phenotype alone could also lead to disease (C). ABSTRACT Diseases due
David A. Hart
wiley   +1 more source

The Extracellular Matrix Across States: From Homeostasis to Dysfunction in Rare Connective Tissue Disorders

open access: yesProteoglycan Research, Volume 4, Issue 2, April 2026.
ABSTRACT The extracellular matrix (ECM) provides a dynamic environment in which the fine balance between biosynthesis, degradation and/or maturation of matrix components critically governs its structure and function. It is well established that the ECM plays a central role not only in the physiological functions of tissues, but also in the pathogenesis
Roméo M. Diana   +2 more
wiley   +1 more source

Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobile Spectrum Disorders (HSD) in Scotland: A Scrapbook of Lived Experiences

open access: yes
This scrapbook was created by participants of the ‘Translating Research Into Change’ event at the Institute of Genetics and Cancer, University of Edinburgh, and offers the reader a look into the real lived experiences of people who live with a diagnosis ...
Corr, Nathan   +24 more
core   +1 more source

Association Between Changes in Shoulder Strength and Self‐Reported Shoulder Symptoms in Patients With Hypermobility Following 16‐Weeks of High‐Load or Low‐Load Exercise: A Secondary Analysis of an RCT

open access: yesPhysiotherapy Research International, Volume 31, Issue 2, April 2026.
ABSTRACT Background and Purpose Hypermobility Spectrum Disorder (HSD) is a common musculoskeletal condition that impairs function and quality of life. While exercise therapy has shown to improve outcomes, treatment standardisation is lacking and the relationship between strength and symptoms remains unclear.
Thomas Christensen   +6 more
wiley   +1 more source

Insomnia due to a dislocation storm in hypermobile Ehlers-Danlos syndrome with small fibre neuropathy and recurrent syncope

open access: yesEuropean Journal of Translational Myology
Objective: To report on a patient with hypermobile Ehlers-Danlos syndrome (EDS) with SFN in whom frequent dislocations during sleep led to sleep deprivation. Case report: The patient is a 19-year-old female with hypermobile EDS manifested by frequent
Josef Finsterer
doaj   +1 more source

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 ...
Reinhold, Emma   +5 more
core   +1 more source

Longitudinal echocardiography in pediatric patients with hypermobile Ehlers‐Danlos syndrome

open access: yesAmerican Journal of Medical Genetics Part A
AbstractVascular Ehlers‐Danlos, Marfan and Loeys‐Dietz syndromes have increased risk of aortic dilation and dissection. Previous early studies showed hypermobile Ehlers‐Danlos syndrome (hEDS) may also have increased risk, with echocardiography screening recommended; subsequent studies have not confirmed the risk or recommended echocardiography.
Hannah, Lahey   +3 more
openaire   +2 more sources

Síndroma de Ehlers-Danlos: Uma causa rara de pneumotórax espontâneo Ehlers-Danlos syndrome: A rare cause of spontaneous pneumothorax

open access: yesRevista Portuguesa de Pneumologia, 2006
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   +6 more
doaj  

Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome

open access: yes
Abstract Hypermobile Ehlers-Danlos syndrome (hEDS) is a common heritable connective tissue disorder that lacks a known genetic etiology. To identify genetic contributions to hEDS, whole exome sequencing was performed on families and a cohort of sporadic hEDS patients. A missense variant in Kallikrein-15 (KLK15 p.
Gensemer, Cortney   +55 more
openaire   +3 more sources

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