Too high and too loose: dysautonomia and the hypertensive paradox in hypermobility disorders.
Hypertension in hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) represents an increasingly recognized but poorly understood clinical phenomenon. This review addresses the unique pathophysiology, diagnostic considerations, and management challenges of hypertension…
Psychoactive medication use and cardiac electrophysiology in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder: a retrospective analysis.
Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorder (HSD) are connective tissue disorders associated with musculoskeletal manifestations and significant psychiatric comorbidities. Psychoactive medications commonly utilized in these populations raise concerns regarding potential cardiac…
Age-related symptom clustering in pediatric hypermobility spectrum disorders: a scoping review.
Pediatric generalized hypermobility spectrum disorders (pgHSD), are a group of multisystemic heritable connective tissue disorders frequently under-recognized in pediatric populations. The variable and often vague early symptomatology, coupled with the absence of definitive genetic markers, present…
Genetic Causes and Ankle Instability in Hypermobile Ehlers-Danlos Syndrome (hEDS): An Integrated Analysis Using Whole-Exome Sequencing and Stress Imaging.
Background: Hypermobile Ehlers-Danlos syndrome (hEDS), the most common EDS subtype, is characterized by chronic pain and joint laxity, yet no definitive causative genes or imaging-based diagnostic criteria have been established. This study investigated the genetic basis of hEDS using whole-exome seq…
Neuropathic involvement in wild-type transthyretin amyloidosis.
Wild-type transthyretin amyloidosis (ATTRwt amyloidosis) has traditionally been considered a purely cardiological condition. However, recent studies suggest that neurological involvement in ATTRwt amyloidosis is more significant than previously believed. We conducted a comprehensive neurological stu…
From survey to solutions: Tackling diversity and inclusion gaps through an inclusion task force.
As a company, Merck & Co., Inc., Rahway, NJ, USA (hereinafter "MSD"), strives to create an environment of mutual respect, inclusion, and accountability in all areas. However, an internal survey revealed that inclusion scores were notably low within the research unit called Health Economic and Decisi…
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…
Kinesiophobia, global health, pain, and bone mineral density in women with hypermobile Ehlers-Danlos syndrome: a prospective cohort study.
Hypermobile Ehlers-Danlos Syndrome (hEDS) is associated with joint hyperflexibility, pain, and connective tissue frailty. Patients are at high risk for fracture due to poor proprioception. This study reports on the mental and physical health, pain, physical activity, and kinesiophobia in patients wi…