Exploring pain mechanisms in hypermobile Ehlers‐Danlos syndrome: A case–control study
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DOI: 10.1002/ejp.1956
Abstract: The hypermobile type of Ehlers‐Danlos syndrome (hEDS) is a heritable connective tissue disorder, associated with joint hypermobility and prominent chronic pain. Because experimental pain testing in hEDS is scarce, the underlying mechanisms are still poorly… read more here.
Keywords: mechanisms hypermobile; danlos syndrome; pain mechanisms; pain ... See more keywords
Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24437
Abstract: Musculocontractural Ehlers–Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐DSE) is a rare connective tissue disorder. This is the first report describing the detailed and comprehensive clinical and pathophysiological features of mcEDS‐DSE. The patient, with… read more here.
Keywords: danlos syndrome; dermatan sulfate; ehlers danlos; mceds dse ... See more keywords
Hypermobile Ehlers‐Danlos Syndrome: A Prodromal Subtype of Functional Movement Disorders?
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DOI: 10.1002/mdc3.13545
Abstract: The phenotypic diversity of functional movement disorders (FMD) is considered a reflection of its many etiological subtypes. Ehlers‐Danlos syndrome (EDS), a joint hypermobility syndrome, also has variable phenotypes, which may include functional symptoms. read more here.
Keywords: movement disorders; movement; danlos syndrome; hypermobile ehlers ... See more keywords
Whole‐exome sequencing facilitates the differential diagnosis of Ehlers–Danlos syndrome (EDS)
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DOI: 10.1002/mgg3.1885
Abstract: Ehlers–Danlos syndromes (EDSs) are a group of rare monogenic conditions with strong heterogeneity and can be caused by 20 genes associating with the essence of the extracellular matrix (ECM). This study enrolled three cases with… read more here.
Keywords: ehlers danlos; whole exome; differential diagnosis; sequencing facilitates ... See more keywords
Quality improvement of clinic flow for complex genetic conditions: Using Ehlers–Danlos syndrome as a model
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.472
Abstract: Genetic providers face the challenge of having adequate time to conduct a comprehensive evaluation. Hypermobile Ehlers–Danlos (hEDS) syndrome has a complex array of symptoms. An initial visit can involve approximately 60–80 min and an additional… read more here.
Keywords: quality improvement; model; ehlers danlos; improvement clinic ... See more keywords
Connective Tissue Disorders in Domestic Animals.
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DOI: 10.1007/978-3-030-80614-9_15
Abstract: Though soft tissue disorders have been recognized and described to some detail in several types of domestic animals and small mammals for some years, they remain uncommon. Because of their low prevalence, not much progress… read more here.
Keywords: connective tissue; disorders domestic; domestic animals; ehlers danlos ... See more keywords
Ex vivo nonlinear microscopy imaging of Ehlers–Danlos syndrome-affected skin
Sign Up to like & getrecommendations! Published in 2018 at "Archives of Dermatological Research"
DOI: 10.1007/s00403-018-1835-7
Abstract: Ehlers–Danlos syndrome (EDS) is the name for a heterogenous group of rare genetic connective tissue disorders with an overall incidence of 1 in 5000. The histological characteristics of EDS have been previously described in detail… read more here.
Keywords: microscopy; danlos syndrome; skin; ehlers danlos ... See more keywords
Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Dermatological Research"
DOI: 10.1007/s00403-019-01894-0
Abstract: Ehlers–Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) defined by joint laxity, skin alterations, and joint hypermobility. The latest EDS classification recognized 13 subtypes in which the… read more here.
Keywords: understanding basis; danlos syndrome; ehlers danlos; next generation ... See more keywords
Comment on “Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review”
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Rheumatology"
DOI: 10.1007/s10067-020-05158-5
Abstract: Dear Sir, We read with interest the article by Palmer [1] (Palmer, S., Denner, E., Riglar, M., Scannell, H., Webb, S. and Young, G., 2020. Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome… read more here.
Keywords: hypermobility; systematic review; rheumatology; ehlers danlos ... See more keywords
Response to “Quantitative measures of tissue mechanics to detect hypermobile Ehlers Danlos syndrome and hypermobility syndrome disorders: a systematic review”
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Rheumatology"
DOI: 10.1007/s10067-020-05192-3
Abstract: Dear Sir Thank you to RodneyGrahame and colleagues for their letter [1], published in this edition, concerning our systematic review of tissue mechanics in hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility syndrome disorders (HSD) [2]. It… read more here.
Keywords: systematic review; ehlers danlos; hypermobile ehlers; mechanics ... See more keywords
Kyphoscolitic type of Ehlers-Danlos syndrome with prenatal stroke
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DOI: 10.1007/s13312-017-1054-x
Abstract: BackgroundThe kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia.Case characteristicsWe report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development… read more here.
Keywords: danlos syndrome; kyphoscolitic type; type ehlers; ehlers danlos ... See more keywords