Results 11 to 20 of about 3,078 (199)

KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome [PDF]

iScience
Summary: Hypermobile Ehlers-Danlos syndrome (hEDS) is a debilitating multisystem condition characterized by joint hypermobility, chronic pain, and diverse comorbidities, yet its genetic basis remains undefined.
Cortney Gensemer, Taylor Petrucci, Tyler Beck, Victoria Daylor, Molly Griggs, Charlotte Griggs, Amy Weintraub, Kathryn Byerly, Lilong Guo, Jordan Morningstar, Isabelle Kornblau, Rachel Biggs, Kelsey Moore, Natalie Koren, Christina Hastings, Emily Oberlies, Ella R. Zientara, Elsie Devey, Sarah Dooley, Kristina Stayer, Roman Fenner, Katherine Singleton, Sofia Luzbetak, Deatra Bear, Rebecca Byrd, Julianna Weninger, Erika Bistran, Gyda Beeson, Joshua Kerns, Madalyn Osterhaus, Emily Fleck, Jillian Schnaudigel, Shaina Butler, Sydney Severance, Wiley Kendall, Joe R. Delaney, Daniel P. Judge, Peng Chen, Hai Yao, Jan Guz, Alexander Awgulewitsch, Steven A. Kautz, Rupak Mukherjee, Robert Price, Fraser Henderson, Sr., Steven Shapiro, Clair A. Francomano, Jason C. Kovacic, Mark Lavallee, Amy R. Kontorovich, Takiy-Eddine Berrandou, Susan A. Slaugenhaupt, David Milan, Anne Maitland, Sunil Patel, Nabila Bouatia-Naji, Russell A. Norris   +56 more
doaj   +6 more sources

The Impact of Hypermobile “Ehlers-Danlos Syndrome” and Hypermobile Spectrum Disorder on Interpersonal Interactions and Relationships

Frontiers in Rehabilitation Sciences, 2022
BackgroundPeople with Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders are hampered in their social participation, especially in the social relationships they have.ObjectiveThe aim of this study is to research the impact of hypermobile Ehlers-
Stijn De Baets, Marieke De Temmerman, Patrick Calders, Fransiska Malfait, Geert Van Hove, Guy Vanderstraeten, Inge De Wandele, Inge De Wandele, Dominique Van de Velde   +8 more
doaj   +6 more sources

Prevalence of Scoliosis in Hypermobile Ehlers-Danlos Syndrome [PDF]

European Medical Journal, 2021
Objective: The main purpose of this study was to evaluate the prevalence, form, and severity of scoliosis in a population of adults meeting the 2017 criteria for hypermobile Ehlers-Danlos syndrome (hEDS).
Fabrice Gillas, Ahmed Mekki, Malika Foy, Robert Carlier, Karelle Benistan   +4 more
doaj   +2 more sources

A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome [PDF]

Frontiers in Medicine
Ehlers-Danlos Syndrome (EDS) refers to a group of connective tissue disorders characterized by significant clinical and genetic variability, affecting multiple systems in the body. Classified as a rare disease, EDS includes 14 subtypes, all marked by joint hypermobility, skin extensibility, and tissue fragility. These subtypes present with a wide range
Liu Q, Zeng G, Xiong Y, Xu C.
exaly   +5 more sources

Cleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report

Radiology Case Reports, 2023
Cleidocranial dysplasia (CCD) is a rare genetic skeletal syndrome. The most common features are open fontanelles, hypertelorism, mid-face retrusion, hypoplasia, or aplasia of the clavicles leading to excessive shoulder mobility, dental abnormalities such
Rengin Ibrahim, MSc, Omar Hamadah, PhD, Mahmoud Abdul-Hak, PhD, Aladdin Alshawa, MSc, Mohamad Alhasan Alouda, MSc   +4 more
doaj   +3 more sources

Insomnia due to a dislocation storm in hypermobile Ehlers-Danlos syndrome with small fibre neuropathy and recurrent syncope [PDF]

European Journal of Translational Myology
Objective: To report on a patient with hypermobile Ehlers-Danlos syndrome (EDS) with SFN in whom frequent dislocations during sleep led to sleep deprivation. Case report: The patient is a 19-year-old female with hypermobile EDS manifested by frequent
Josef Finsterer
doaj   +2 more sources

Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome [PDF]

Case Reports in Surgery, 2017
Ehlers-Danlos Syndrome refers to a spectrum of connective tissue disorders that have a variety of clinical manifestations. In this case, we present a spontaneous diaphragmatic rupture in a patient with type III Ehlers-Danlos Syndrome.
Ruchi Amin, Brett H. Waibel
doaj   +3 more sources

Application of immunotherapy for neurological manifestations in hypermobile Ehlers–Danlos syndrome [PDF]

Therapeutic Advances in Neurological Disorders, 2018
Ehlers–Danlos syndrome (EDS) is a heterogeneous heritable connective tissue disorder with various neurological manifestations, including chronic pain.
Manabu Araki, Youwei Lin, Hirohiko Ono, Wakiro Sato, Takashi Yamamura   +4 more
doaj   +3 more sources

Social media use by patients with hypermobile Ehlers–Danlos syndrome

Molecular Genetics & Genomic Medicine
Background Patients with uncommon genetic conditions often face limited in‐person resources for social and informational support. Hypermobile Ehlers–Danlos syndrome (hEDS) is a rare or underdiagnosed hereditary disorder of the connective tissue, and like
Colin M. E. Halverson, Tom A. Doyle, Samantha Vershaw   +2 more
doaj   +3 more sources

Fascial thickness and stiffness in hypermobile Ehlers‐Danlos syndrome [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2021
AbstractThere is a high prevalence of myofascial pain in people with hypermobile Ehlers‐Danlos Syndrome (hEDS). The fascial origin of pain may correspond to changes in the extracellular matrix. The objective of this study was to investigate structural changes in fascia in hEDS.
Tina J. Wang, Antonio Stecco
openaire   +2 more sources