Results 1 to 10 of about 2,306,494 (185)

Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders [PDF]

HGG Advances, 2022
Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase ≥8 ng/mL, caused by increased α-tryptase-encoding TPSAB1 copy number.
Maribel Vazquez, Jack Chovanec, Jiwon Kim, Thomas DiMaggio, Joshua D. Milner, Clair A. Francomano, Christina A. Gurnett, Marco Ritelli, Marina Colombi, Jonathan J. Lyons   +9 more
doaj   +2 more sources

THE DIFFERENTIAL DIAGNOSIS OF CHILDREN WITH JOINT HYPERMOBILITY: A REVIEW OF THE LITERATURE [PDF]

Romanian Journal of Pediatrics, 2009
Background. In this study we aimed to identify and review publications relating to the diagnosis of joint hypermobility and instability and develop an evidence based approach to the diagnosis of children presenting with joint hypermobility and related ...
Louise J. Tofts, J. Elliott, Craig Munns, Verity Pacey, David O Sillence   +4 more
doaj   +5 more sources

Prevalence and management of mental health comorbidities in a German cohort of patients with Ehlers-Danlos syndromes and a generalized hypermobility spectrum disorder [PDF]

Orphanet Journal of Rare Diseases
Objective The objective of this study was to examine mental health comorbidities and their management in individuals living in Germany with generalized symptomatic hypermobility, including Ehlers-Danlos Syndromes (EDS) and generalized hypermobility ...
Michaela Henning, Marie Hock, Arim Shukri, Vanessa Löw, Nikolaus Kernich, Jonas Rauterberg, Henning Klapproth, Iliana Tantcheva-Poór   +7 more
doaj   +2 more sources

Exploring physical activity patterns in adolescents with hypermobility spectrum disorder or hypermobile Ehlers-Danlos Syndrome [PDF]

Pediatric Rheumatology Online Journal
Background Pain and fatigue are cardinal symptoms in adolescents with Hypermobility Spectrum Disorder (HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS).
Elke Schubert-Hjalmarsson, Jonatan Fridolfsson, Daniel Arvidsson, Mats Börjesson, Mari Lundberg   +4 more
doaj   +2 more sources

Health care supply in patients with Ehlers-Danlos syndromes and generalized hypermobility spectrum disorder: a German perspective [PDF]

Orphanet Journal of Rare Diseases
Background Diagnosing Ehlers-Danlos syndromes (EDS) and EDS-related “hypermobility spectrum disorder” (HSD) is challenging and cutaneous manifestations often serve as indicators of these rare connective tissue disorders.
Jonas Rauterberg, Marie Hock, Nikolaus Kernich, Arim Shukri, Henning Klapproth, Vanessa Löw, Michaela Henning, Iliana Tantcheva-Poór   +7 more
doaj   +2 more sources

Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region [PDF]

Orphanet Journal of Rare Diseases
Background The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility.
Wendy Wagner, Tom A. Doyle, Clair A. Francomano, Dacre R. T. Knight, Colin M. E. Halverson   +4 more
doaj   +2 more sources

Hospital Stay Considerations in Hypermobile Ehlers-Danlos Syndrome: An Exemplary Case With Insights for Coexisting Symptoms

Annals of Internal Medicine: Clinical Cases, 2022
Ehlers-Danlos syndrome, hypermobility type, is a complex medical condition understood to be a genetic disorder resulting in abnormal collagen synthesis.
Jamie E. Clarke, Julio Santana, Efren C. Manjarrez   +2 more
doaj   +1 more source

Symptomatic generalised joint hypermobility and autism spectrum disorder are associated in adults

European Psychiatry, 2022
Introduction Intriguingly, autism spectrum disorders (ASD) and symptomatic generalised joint hypermobility (S-GJH) (e.g. hypermobility spectrum disorders and Ehlers Danlos Syndrome) share several clinical manifestations including motor difficulties ...
M. Glans, S. Bejerot, M. Elwin, M. Humble   +3 more
doaj   +1 more source

Surgical management of glenohumeral instability in patients with Ehlers-Danlos syndrome/hypermobility spectrum disorder and their risk of reoperation. [PDF]

JSES Rev Rep Tech
Winschel JM, Albright JA, Testa EJ, Kent VF, Byrne RA, He EW, Daniels AH, Owens BD.   +7 more
europepmc   +2 more sources

Rationale and Feasibility of Resistance Training in hEDS/HSD: A Narrative Review

Journal of Functional Morphology and Kinesiology, 2022
Hypermobile Ehlers–Danlos Syndrome (hEDS) and hypermobility spectrum disorder (HSD) are genetic conditions characterized by increased joint hypermobility, often in the presence of other signs or symptoms if syndromic.
Hannah A. Zabriskie
doaj   +1 more source