Author Archives: Patricia Inacio PhD

Analysis Pinpoints Molecular Pathways Underlying Two Types of kEDS

Despite similar clinical symptoms among kyphoscoliotic Ehlers-Danlos syndrome (kEDS) patients carrying mutations in the PLOD1 or FKBP14 genes, the molecular pathways underlying the disease may be different in each case, according to a new study. The study, “Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1-…

Molecular Analysis Pinpoints Pathways Underlying Defects in cEDS

Gene expression analysis of skin cells identified several molecular pathways deregulated in classical Ehlers-Danlos syndrome (cEDS) patients, which may open new avenues for therapeutics, according to a new study. The study, “Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts,” was…

Molecular Analysis Pinpoints Potentially Important Pathways for Classical EDS

A gene expression analysis identified several deregulated pathways in fibroblasts from classical Ehlers-Danlos syndrome (EDS) patients, offering new insights for future studies investigating the disease mechanisms and potential therapies, a study reports. The study, “Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of…

Obstructive Sleep Apnea Is Common Among Children and Adolescents with Ehlers-Danlos Syndrome, Study Finds

Approximately two in five children and adolescents with Ehlers-Danlos syndrome experience impaired breathing during sleep, a condition called obstructive sleep apnea (OSA), a study reports. The condition increases daytime sleepiness and sleep-related breathing disorders, which reduce the quality of life. The study, “Obstructive Sleep Apnoea in Children and Adolescents…

Gastrointestinal Injuries Prevalent in Vascular Ehlers‐Danlos Patients, 17‐year Study Shows

Nearly half of patients with vascular Ehlers-Danlos syndrome experience gastrointestinal injuries, but men seem to carry an increased risk and severity than women, a 17-year retrospective study shows. The study, “Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: a 17-year retrospective review,” was published in the Journal…