CONCLUSION: Human fibroblasts will self-assemble a 3D ring-shaped tissue and synthesize a fibrous network of ECM proteins whose tensile properties can be measured. The fibrotic environment can be mimicked by addition of TGF-β1, which increases levels of collagen as well as the strength and stiffness of the rings. Treatment with two drugs, incyclinide and PAT 1251 that were developed as potential treatments for diseases of the ECM, altered the strength and stiffness of the rings, thereby...
CONCLUSIONS: The present findings seem to confirm the association between affect regulation, pain, and linguistic measures, sustaining an elaborative process. Specifically, the experience of chronic pain associated with the discovery of the rare disease becomes a meaningful experience in one's life condition and supports the ability to cope with the experience of chronicity.
Increasing research suggests a link between autism spectrum disorders and joint hypermobility, hypermobility spectrum disorders, and Ehlers-Danlos syndromes. However, no study systematically examined the available literature about the relationship between these conditions. A systematic literature search was conducted to identify studies (a) examining the link between autism, joint hypermobility, hypermobility spectrum disorders or Ehlers-Danlos syndrome, and (b) reporting the frequency of autism...
CONCLUSION: Surgical siting of JT demonstrates significantly reduced dislodgement rates, and requirement for re-intervention in the long-term as compared to endoscopic JT placement.
Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common connective tissue disorder. However, few studies exist on psychiatric and sleep disorders in pediatric patients with hEDS. This study aims to describe psychiatric and sleep disorders and evaluate their impact on health-related quality of life (HRQoL) in pediatric patients with hEDS. As part of a longitudinal study, a convenience sample of 123 pediatric patients with hEDS, were recruited at a hEDS multidisciplinary clinic in sequential...
To describe the management of post-traumatic Descemet's membrane detachment and intraoperative corneal rupture in a known case of Ehlers-Danlos Syndrome (EDS). A 7-year-old child, a known case of EDS, presented with Descemet's membrane tear in the right eye for which intracameral sulfur hexafluoride (SF(6)) and descemetopexy were done. Intraoperative spontaneous rupture of the cornea was noted during descemetopexy which was managed using cyanoacrylate glue and bandage contact lens. We...
Inherited aortopathies, including Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome, are genetic disorders characterized by structural abnormalities of the aorta that predispose individuals to life-threatening complications like aneurysms and dissections. These conditions result from mutations in genes essential for maintaining aortic wall integrity, such as FBN1, TGFBR1, and COL3A1, affecting extracellular matrix components and the transforming growth factor-beta (TGF-β)...
CONCLUSIONS: No pregnancy-related deaths, arterial dissections or uterine ruptures occurred in our cohort. Since no life-threatening events occurred during pregnancy and delivery, discouragement of pregnancy in all women with vEDS in current guidelines might be too strict. Based on these data, we propose a shared decision-making process.
Loss of ZIP13 causes Ehlers-Danlos syndrome spondylodysplastic type 3 involving connective tissue dysplasias associated with a reduction in muscular strength. However, ZIP13 role in skeletal muscle homeostasis, particularly for the regulation of muscle satellite cells (MuSCs), remains poorly understood. In this study, we investigated Zip13-knockout (KO) mice and found a reduction in MuSCs of Zip13-KO mice, in which the quiescent and activated phase balances were disrupted. To clarify the...
CONCLUSION: This study highlights significant balance and proprioception deficits in HMS individuals, with substantial mediation effects of psychological and physical factors. These findings emphasize the need for an integrated approach in HMS management, combining physical therapy with psychological interventions.
Dermatosparaxis is a subtype of Ehlers-Danlos syndrome (dEDS) that typically results in euthanasia of dogs in the first several months of life because of complications mostly related to extreme skin fragility. The goal of this report was to describe ultrastructural features of collagen fibrils from a dog with a milder form of dEDS. A skin biopsy sample was procured from a nearly 10-year-old Catahoula Leopard dog with dEDS associated with a previously published homozygous missense variant in...
CONCLUSION: An association was identified between patients with HSD/hEDS with chronic pain and improvements in pain-specific and general health-related quality of life following the commencement of CBMPs. CBMPs were also well tolerated at 18 months. These findings must be interpreted within the context of the limitations of study design but add further weight to calls for randomized controlled trials.
Connective tissue disorders are known to cause cardiac and vascular complications. We present the case of a 37-year-old female patient with a rare Ehlers Danlos/Osteogenesis Imperfecta Overlap Syndrome, referred to cardiac surgery with aortic valve regurgitation, who underwent a successful Biological Surgical Aortic Valve Replacement (SAVR). A multidisciplinary, patient-centered, heart-team approach is essential in managing patients with rare genetic disorders to optimize postoperative outcomes....
Bone strength has been assumed to be relatively similar in young infants born at term. While prematurity has long been known as a risk factor for temporary bone fragility, few other factors have been appreciated that might predispose to young infant bone fragility. Moreover, young infants who present with unexplained fractures are often diagnosed as victims of child abuse based on alleged pathognomonic X-ray findings. However, review of cases of young infants with unexplained fractures often...
Duchenne and Becker Muscular Dystrophy are dystrophinopathies with a prevalence of 1:5000-6000 males, caused by pathogenic variants in DMD. These conditions are often accompanied by neurodevelopmental disorders (NDDs) like autism (ASD; ~20%) and intellectual disability (ID; ~30%). However, their low penetrance in dystrophinopathies suggests additional contributing factors. In our study, 83 individuals with dystrophinopathies were clinically evaluated and categorized based on ASD (36...
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