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CONCLUSION: Patients with EDS experienced increased sensation with lidocaine, suggesting shorter duration of effect of lidocaine local anesthetic. This evidence validates previous patient reports and small case studies suggesting this phenomenon. Healthcare providers should be aware of this reduced effectiveness experienced by patients with EDS, to adjust care accordingly.
CONCLUSION: HSD/hEDS were weaker at all measured fascicle lengths, despite similar muscle architecture (MT, PA) and quality (EI) suggesting that reduced neuromuscular activation may contribute to muscle weakness in this population. Rehabilitation interventions should consider addressing joint-angle specific strength deficits in HSD/hEDS.
Background/Objectives: Hypermobile Ehlers-Danlos syndrome (hEDS) remains genetically unexplained despite decades of clinical investigation, with the molecular basis undefined for the vast majority of cases. This study employs integrated machine learning approaches with rigorous subject-level statistical methods to decode the genetic architecture underlying hEDS. Methods: We analyzed 35,923 rare genetic variants (gnomAD MAF < 0.2) across 116 subjects from 43 families (86 hEDS patients diagnosed...
Arteriopathies in early childhood present significant diagnostic challenges due to phenotypic overlap between Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and hereditary cutis laxa. We report a 2-year-old male, born of consanguineous parentage, evaluated for persistent cough and hypertension. Clinical features included coarse facies, pectus excavatum, and mild hepatomegaly. Echocardiography revealed a massively dilated ascending aorta (56 mm), aortic annular dilatation,...
Background/Objective: It remains unknown whether patients with the more common forms of hypermobility carry an elevated risk for the development of intracranial/cervical artery abnormalities. The objective of this study was to determine the prevalence of unruptured intracranial aneurysms, spontaneous cervical artery dissections, and fibromuscular dysplasia in patients with hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorders (HSD) who presented to an academic headache...
We report the generation and characterization of a collagen III-mutant human iPSC line (JHUi007-A) and an isogenic gene-edited control (JHUi007-A-1). Reprogramming of dermal fibroblasts, obtained from a patient with vascular Ehlers-Danlos syndrome (vEDS) carrying the COL3A1 c.755G>T variant, was performed using integration-free Sendai virus. Isogenic controls were produced by CRISPR/Cas9 gene editing. Both lines displayed typical morphologies, expressed stemness factors, formed derivatives of...
CONCLUSION: This online Pilates program for people with symptomatic hypermobility improved BIoH, BARQ, and TSK, though changes were modest. The exercises did not improve IPAQ. Online exercise may provide a cost-effective way to encourage life-long activity in people with hypermobility. Limitations include the inability to monitor performance of the Pilates, high drop-out rates, and the inability to control for changes in other treatments patients may have received.
CONCLUSIONS: TikTok serves as a key platform for rare disease awareness and community engagement, although the quality and accuracy of health information vary widely. Although medical professionals produced higher-quality content, it tended to receive less visibility. Increasing the presence of health care professionals and improving visibility of evidence-based content could enhance patient education and safer health information sharing.
CONCLUSIONS: Autistic and non-autistic people may experience hEDS/HSD differently, which may impact the type of supports that are most beneficial to them.
The development of tendon hierarchical structure is dependent on collagen I assembly into fibrils and higher-order assemblies, a process regulated by interactions involving collagen V, a quantitatively minor yet essential component of the tendon extracellular matrix. Collagen V critically regulates fibrillogenesis and is expressed throughout tendon development and maturation. Clinically, deficiency of collagen V manifests as classic Ehlers-Danlos syndrome (cEDS), a disorder characterized by...
Ehlers Danlos and related hypermobility syndromes underly chronic, recurrent, and multiple-site pain in a small number of persons. By making the diagnosis, clinicians can better guide the treatment of the presenting problem. The diagnosis can help a patient make sense of their recurrent challenges as well. By inquiring about numerous associated conditions, ranging from postural orthostatic tachycardia syndrome to autism spectrum and attention deficit issues, the clinician may help the patient...
CONCLUSION: rTSA and GHA are viable options in treating end-stage RSI. rTSA resulted in better function and lower revision surgery rates, suggesting rTSA provides better shoulder mobility while maintaining stability.
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