Ehlers-Danlos Syndrome Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

The use and effectiveness of exercise for managing postural orthostatic tachycardia syndrome in young adults with joint hypermobility and related conditions: A scoping review
CONCLUSION: The findings highlight a paucity of higher-level studies documenting exercise for POTS management in people with joint hypermobility and related conditions. Results from the wider POTS population demonstrate exercise is safe and effective. Large, well-designed clinical studies exploring exercise for POTS management adapting to meet the complex musculoskeletal and non-musculoskeletal features of symptomatic joint hypermobility are needed.PMID:38401460 | DOI:10.1016/j.autneu.2024.103156 (Source: Autonomic Neuroscience)
Source: Autonomic Neuroscience - February 24, 2024 Category: Neuroscience Authors: Karen C Peebles Charl Jacobs Logan Makaroff Verity Pacey Source Type: research

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
Conclusions We demonstrate the clinical utility of large panel-based sequencing and WES for patients with complex EDS in distinguishing rare EDS subtypes, LDS and related syndromes. Although many of the P and LP variants reported in this cohort would be identified with current panel testing, they were not at the time of this study, highlighting the use of extended panels and WES as a clinical tool for complex EDS. Our results are consistent with the complex genetic architecture of EDS and suggest a number of novel hEDS and HTAD candidate genes and pathways. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - February 21, 2024 Category: Genetics & Stem Cells Authors: Vandersteen, A. M., Weerakkody, R. A., Parry, D. A., Kanonidou, C., Toddie-Moore, D. J., Vandrovcova, J., Darlay, R., Santoyo-Lopez, J., Meynert, A., NIHR BioResource, Kazkaz, H., Grahame, R., Cummings, C., Bartlett, M., Ghali, N., Brady, A. F., Pope, F. Tags: Open access Genotype-phenotype correlations Source Type: research

Assessment of gait mechanics and muscle strength in hypermobile Ehlers Danlos Syndrome
Patients with hypermobile Ehlers Danlos Syndrome ambulated with altered hip extensor moments and exhibit hip extensor weakness. Future work should investigate the underlying mechanisms of hip extensor weakness and corresponding effects on joint health in people with hypermobile Ehlers Danlos Syndrome. (Source: Clinical Biomechanics)
Source: Clinical Biomechanics - February 17, 2024 Category: Orthopaedics Authors: Lindsey N. Ball, Mariana V. Jacobs, Christopher J. McLouth, Jody Clasey, Clair Francomano, Mary B. Sheppard, Michael A. Samaan Source Type: research

Small fibre neuropathy is responsible for POTS in SARS-CoV-2 vaccinees
We read with interest Teodorescu et al ’s article on a prospective, observational, single-centre study of the characteristics of 10 patients with new-onset or exacerbated postural tachycardia syndrome (POTS) after receiving an mRNA anti-SARS-CoV-2 vaccine [1]. All 10 patients had pre-existing illnesses that predisposed to POTS, such as Ehlers-Danlos syndrome, mast cell activation syndrome, or autoimmune, neurological or cardiac conditions [1]. The mean skin sympathetic nerve activity (SKNA) amplitude was reduced in POTS patients [1]. (Source: Heart Rhythm)
Source: Heart Rhythm - February 13, 2024 Category: Cardiology Authors: Josef Finsterer Source Type: research

To the Editor —Small Fiber Neuropathy Is Responsible for POTS in SARS-CoV-2 Vaccines
I read with interest the article by Teodorescu et al1 on a prospective, observational, single-center study of the characteristics of 10 patients with new-onset or exacerbated postural tachycardia syndrome (POTS) after receiving an mRNA anti–severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine. All 10 patients had preexisting ill nesses that predisposed to POTS, such as Ehlers-Danlos syndrome, mast cell activation syndrome, or an autoimmune, neurological, or cardiac condition. The mean skin sympathetic nerve activity (SKNA) amplitude was reduced in POTS patients. (Source: Heart Rhythm)
Source: Heart Rhythm - February 13, 2024 Category: Cardiology Authors: Josef Finsterer Tags: Letters to the Editor Source Type: research

The use and effectiveness of exercise for managing postural orthostatic tachycardia syndrome in young adults with joint hypermobility and related conditions: A scoping review
Postural Orthostatic Tachycardia Syndrome (POTS) is a form of dysautonomia. It may occur in isolation, but frequently co-exists in individuals with hypermobile variants of Ehlers-Danlos Syndrome (EDS) and related conditions (chronic fatigue syndrome [CFS] and fibromyalgia). Exercise is recommended for non-pharmacological POTS management but needs to be individualised. This scoping review explores the current literature on use and effectiveness of exercise-based management for POTS, with specific focus on individuals with joint hypermobility and related conditions who experience hypermobility, and/or pain, and/or fatigue. (...
Source: Autonomic Neuroscience: Basic and Clinical - February 12, 2024 Category: Neuroscience Authors: Karen C. Peebles, Charl Jacobs, Logan Makaroff, Verity Pacey Tags: Review Article Source Type: research

Dysfunctional Latent Transforming Growth Factor β Activation After Corneal Injury in a Classical Ehlers-Danlos Model
Matrix Biol. 2024 Feb 8:S0945-053X(24)00023-4. doi: 10.1016/j.matbio.2024.02.004. Online ahead of print.ABSTRACTPatients with classical Ehlers Danlos syndrome (cEDS) suffer impaired wound healing and from scars formed after injuries that are atrophic and difficult to close surgically. Haploinsufficiency in COL5A1 creates systemic morphological and functional alterations in the entire body. We investigated mechanisms that impair wound healing from corneal lacerations (full thickness injuries) in a mouse model of cEDS (Col5a1+/-). We found that collagen V reexpression in this model is upregulated during corneal tissue repair...
Source: Matrix Biology - February 10, 2024 Category: Molecular Biology Authors: Mei Sun Ana Carolina Acosta Victoria Emerick Sheila Adams Marcel Y Avila Curtis E Margo Edgar M Espana Source Type: research