DNA methylation: unifying framework for complex chronic conditions.
Complex chronic conditions represent a growing health burden that is poorly understood and inadequately managed within current health systems. This review focuses on the potential of epigenetic DNA methylation to provide a pathway for better understanding of four closely related conditions: myalgic…
Hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome: patient experiences, disability and implications for rehabilitation.
The diagnosis and management of hypermobility spectrum disorders and hypermobile Ehlers-Danlos syndrome (HSD/hEDS) are a healthcare challenge because of the wide array of symptoms, lack of diagnostic biomarkers, and evolving management guidelines. This study aimed to describe patient experiences, di…
The WNT/β-catenin Pathway and Matrix Metalloproteinase-9 in hypermobile Ehlers-Danlos Syndrome and Autism Spectrum Disorder: A Possible Connection.
Hypermobile Ehlers-Danlos Syndrome (hEDS), a connective tissue disorder also known as Ehlers-Danlos Syndrome Type III or Ehlers-Danlos Syndrome Hypermobility Type, and Autism Spectrum Disorder (ASD), a neurodevelopmental disorder, present notable symptom overlap and higher than expected level of com…
Gastrointestinal Manifestations of Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Mentored Review.
Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder that is often diagnosed after diagnostic delays due to reliance on heightened clinical suspicion. Hypermobility spectrum disorders (HSD) bridge the gap between asymptomatic joint hypermobility and hEDS. Due to overlapping feat…
Computable Phenotype for Identifying Undiagnosed Hypermobile Ehlers-Danlos Syndrome: Protocol for a Development and Validation Study.
Hypermobile Ehlers-Danlos syndrome (hEDS) is a multisystemic hereditary connective tissue disorder characterized by generalized joint hypermobility, chronic pain, and a complex spectrum of comorbidities. Diagnosis relies on complex clinical criteria, leading to poor recognition by clinicians and fra…
Gastrointestinal Manifestations and Nutrition Support in Hypermobile Ehlers-Danlos, Postural Orthostatic Tachycardia, and Mast Cell Activation Syndromes.
Gastrointestinal symptoms are common and often severe in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders (hEDS/HSD), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS). This review provides a structured, practical framework fo…
Excessive Hypocapnic Cerebral Vasoconstriction in Hypermobile Ehlers-Danlos Syndrome Assessed With Real-Time Magnetic Resonance Imaging During Lower-Body Negative Pressure.
Orthostatic intolerance is common in hypermobile Ehlers-Danlos syndrome (hEDS) with one third of patients fulfilling postural orthostatic tachycardia syndrome criteria. Our aim was to assess cerebral blood flow in patients with hEDS and postural orthostatic tachycardia syndrome during orthostasis, w…
Integrating Adverse Outcome Pathways with In Vitro-to-In Vivo Extrapolation for Risk Assessment: A Case Study of Cadmium-Induced Bone Toxicity.
Recent advances in regulatory science have promoted the development of next-generation risk assessment, with an increasing emphasis on chemical safety evaluation via new approach methodologies. Herein, an integrated approach combining adverse outcome pathways (AOPs) with in vitro-to-in vivo extrapol…