Výsledky vyhledávání - "joint hyperlaxity"

Akademický článek

Clinical and genetic aspects in the Ehlers Danlos syndrome

Autor: Elena Silvia Shelby, Madalina Cristina Leanca, Serban Hamei, Liliana Padure, Andrada Mirea

Publikováno v: Romanian Journal of Pediatrics, Vol 69, Iss 4, Pp 354-357 (2020)

Introduction. Ehlers Danlos syndrome is a group of hereditary diseases of the connective tissue with a combined prevalence of 1 in 5,000 cases which have in common articular hyperlaxity and skin abnormalities. In some types, rapid diagnosis can mean

Externí odkaz: https://doaj.org/article/2cbfeca9a8fe4f5daf31f17b854cf531

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Akademický článek

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Clinical and genetic aspects in the Ehlers Danlos syndrome

Autor: Madalina Cristina Leanca, Andrada Mirea, Serban Hamei, Elena Silvia Shelby, Pharmacy, Bucharest, Romania, Liliana Padure

Publikováno v: Romanian Journal of Pediatrics, Vol 69, Iss 4, Pp 354-357 (2020)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::105f4e9cc346a7471d9c4cf6e5ee985e
https://doi.org/10.37897/rjp.2020.4.17

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Association Between Keratoconus and Shoulder Dislocation: A Cross-Sectional Study

Autor: Hashem Al Hawamdeh, Khaled A Elubous, Aws Khanfar, Zuhair Sharif, Osama H. Ababneh, Muawyah D Al Bdour, Walid Sharif, Saif Aldeen AlRyalat, Mohammed A Abu-Rumaileh

Publikováno v: Cureus

Introduction Few studies have highlighted the correlation between shoulder dislocation and keratoconus (KC). This study aimed to examine the association between KC and shoulder dislocation using patients with KC and matched controls. Methods This cro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94d8c62a7965bbb86fa786cdddbe5629
https://doi.org/10.7759/cureus.19279

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Akademický článek

Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity Distrofia muscular congênita com hiperextensibilidade articular distal (Ullrich) e miopatia de Bethlem: heterogeneidade clínica e genética

Autor: Umbertina Conti Reed, Lucio Gobbo Ferreira, Enna Cristina Liu, Maria Bernadete Dutra Resende, Mary Souza Carvalho, Suely Kazue Marie, Milberto Scaff

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 63, Iss 3b, Pp 785-790 (2005)

Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally o

Externí odkaz: https://doaj.org/article/c5b9bf744cf548af8706b127358dcd85

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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Autor: Karine Duroure, Estelle Colin, Thomas Edouard, Ludovic Martin, Linda Grimaud, Lyndon Gallacher, George McGillivray, Guy Lenaers, Valérie Desquiret-Dumas, Clarisse Billon, Anne Breton, Mohammed Zarhrate, Emmanuel Mas, Dominique Bonneau, Lynn Pais, Daniel Henrion, Thomas Haaf, Reza Maroofian, Marianna Parlato, Frank M. Ruemmele, Anne-Laure Guihot, Anaïs Philippe, Ehsan Ghayoor Karimiani, Pauline E. Schneeberger, Stanislas Lyonnet, Bernadette Bègue, Bruno Moulin, Rémi Duclaux-Loras, Nicolas Cagnard, Michael Frank, Laurence Faivre, Ruben Attali, Yves Alembik, Filippo Del Bene, Kerstin Kutsche, Céline Revenu, Fabienne Charbit-Henrion, Katta M. Girisha, Aboulfazl Rad, Eyal Reinstein, Shalini S. Nayak, Barbara Vona, Nadine Cerf-Bensussan, Caroline Lekszas, Shay Tzur, Alban Ziegler, Susan M. White

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (6), pp.1126-1137. ⟨10.1016/j.ajhg.2021.04.020⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (6), pp.1126-1137. ⟨10.1016/j.ajhg.2021.04.020⟩

International audience; Dysregulated transforming growth factor TGF-beta signaling underlies the pathogenesis of genetic disorders affecting the connective tissue such as Loeys-Dietz syndrome. Here, we report 12 individuals with bi-allelic loss-of-fu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::015927cc0e12136fe519a9ab8ab24b2d
https://hal.inrae.fr/hal-03318994/document

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Hypermobile Disorders and Their Effects on the Hip Joint

Autor: Ian M. Clapp, Shane J. Nho, Edward C. Beck, Katlynn Paul

Publikováno v: Frontiers in Surgery
Frontiers in Surgery, Vol 8 (2021)

Hypermobility, or joint hyperlaxity, can result from inherited connective tissue disorders or from micro- or macrotrauma to a joint. The supraphysiologic motion of the hip joint results in capsuloligamentous damage, and these patients have a propensi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46508c2315b21ca88675fe90858072c
https://doi.org/10.3389/fsurg.2021.596971

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Ehlers-Danlos Syndrome (EDS) : A Common and often Disregarded Cause of Serious Gastrointestinal Complications in Children and Adults

Autor: Jacques Rottembourg, Jérémie H. Lefevre, Mickael Delarue, Jean-David Zeitoun, C. Hamonet

Publikováno v: Medical Research Archives. 9

Ehlers-Danlos is a hereditary disease of the whole connective tissue initially described by dermatologists (Tscherchnogobov Moscow 1892, Ehlers, Copenhagen, 1900, Danlos, Paris, 1908). They emphasized the joint hyperlaxity and stretchiness of the ski

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ea416e84cd29e05e54501508850d4282
https://doi.org/10.18103/mra.v9i8.2507

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