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

