نتایج جستجو برای: danlos syndrome

تعداد نتایج: 622031  

2014
Maria Francesca Bedeschi Francesca Bonarrigo Francesca Manzoni Donatella Milani Maria Rosaria Piemontese Sophie Guez Susanna Esposito

Dear Sir, The early identification of hereditary syndromes is essential for planning medical and surgical interventions for reducing the risk of complications [1]. Unfortunately, clinical phenotypes of hereditary syndromes in the first years of life and in mild cases are often poorly characterized. Some disease symptoms are also common to several different genetic conditions. Cleidocranial dysp...

Journal: :American journal of medical genetics. Part C, Seminars in medical genetics 2017
Brad Tinkle Marco Castori Britta Berglund Helen Cohen Rodney Grahame Hanadi Kazkaz Howard Levy

The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferen...

Journal: :American Journal of Occupational Therapy 2022

Abstract Date Presented 04/01/2022 An estimated 85% of patients with hypermobile Ehlers-Danlos syndrome (hEDS) experience shoulder pain and impaired function. Kinesiology taping (KT) may be used by OT practitioners as an intervention to decrease improve upper extremity function in individuals hEDS. The purpose this study was investigate the short-term effects (0–48 hr) KT on hEDS pain. Primary ...

2016
Yael Gazit Giris Jacob Rodney Grahame

Ehlers-Danlos syndrome (EDS)-hypermobility type (HT) is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pai...

Journal: :Polskie Archiwum Medycyny Wewnetrznej 1997
T Nowakowski B Dembińska D Ryś J Musiał

We described a 30-year old man with Ehlers-Danlos syndrome type VI, manifested by marked kyphoscoliosis and severe myopia, who was admitted to our department because of chest pain. Abnormalities of stature and joint system along with eye changes, occurred starting from the birth and they aggravated gradually. Signs of increased fragility of the skin blood vessels appeared during childhood. At t...

Journal: :Annals of the rheumatic diseases 1963
P K CARTER R L WALFORD

Prior studies from this laboratory of the elastinelastase-serum elastase inhibitor system disclosed, among other findings, a consistent 2to 3-fold increase in the inhibitor in late pregnancy (Schneider, Walford, and Dignam, 1960). Other disease states, including arteriosclerosis, lupus erythematosus, dermatomyositis, severe liver disease, and nephrotic syndrome, showed mild but inconstant chang...

Journal: :Neurology 2014
Stéphanie Debette Barbara Goeggel Simonetti Sabrina Schilling Juan José Martin Manja Kloss Hakan Sarikaya Ingrid Hausser Stefan Engelter Tiina M Metso Alessandro Pezzini Vincent Thijs Emmanuel Touzé Stefano Paolucci Paolo Costa Maria Sessa Yves Samson Yannick Béjot Ayse Altintas Antti J Metso Dominique Hervé Christoph Lichy Simon Jung Urs Fischer Chantal Lamy Armin Grau Hugues Chabriat Valeria Caso Philippe A Lyrer Christian Stapf Turgut Tatlisumak Tobias Brandt Elisabeth Tournier-Lasserve Dominique P Germain Michael Frank Ralf W Baumgartner Caspar Grond-Ginsbach Marie-Germaine Bousser Didier Leys Jean Dallongeville Anna Bersano Marcel Arnold

OBJECTIVE In a large series of patients with cervical artery dissection (CeAD), a major cause of ischemic stroke in young and middle-aged adults, we aimed to examine frequencies and correlates of family history of CeAD and of inherited connective tissue disorders. METHODS We combined data from 2 large international multicenter cohorts of consecutive patients with CeAD in 23 neurologic departm...

Journal: :Circulation 1965
M G CRISCITIELLO J A RONAN E M BESTERMAN W SCHOEHWETTER

THE GROUP of diseases characterized by McKusick as generalized "heritable disorders of connective tissue" includes the Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, the Hurler syndrome, and pseudoxanthoma elasticum. With the exception of osteogenesis imperfecta, all of these have been known to involve significant cardiovascular abnormalities.' The Marfan syndrome is freq...

Journal: :Children's Health Care 2021

Hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are underdiagnosed hereditary connective tissue requiring health care across specialties. Using mixed methods, we explored how parents have experienced children’s for hEDS/HSD. Surveyed (N = 297) reported varying experiences, though professional understanding was negatively appraised by most parents. Themes ide...

Journal: :The Journal of clinical investigation 2001
J R Mao J Bristow

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