[ { "key": "3A35D4TF", "version": 44, "library": { "type": "group", "id": 458066, "name": "Ehlers Danlos Capstone", "links": { "alternate": { "href": "https://www.zotero.org/groups/ehlers_danlos_capstone", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/458066/items/3A35D4TF", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/ehlers_danlos_capstone/items/3A35D4TF", "type": "text/html" } }, "meta": { "createdByUser": { "id": 2649022, "username": "cranlevi", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/cranlevi", "type": "text/html" } } }, "lastModifiedByUser": { "id": 2667434, "username": "grifetha", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/grifetha", "type": "text/html" } } }, "creatorSummary": "Levy", "parsedDate": "1993", "numChildren": 2 }, "data": { "key": "3A35D4TF", "version": 44, "itemType": "bookSection", "title": "(2) Ehlers-Danlos Syndrome, Hypermobility Type", "creators": [ { "creatorType": "author", "firstName": "Howard P.", "lastName": "Levy" }, { "creatorType": "editor", "firstName": "Roberta A.", "lastName": "Pagon" }, { "creatorType": "editor", "firstName": "Margaret P.", "lastName": "Adam" }, { "creatorType": "editor", "firstName": "Holly H.", "lastName": "Ardinger" }, { "creatorType": "editor", "firstName": "Stephanie E.", "lastName": "Wallace" }, { "creatorType": "editor", "firstName": "Anne", "lastName": "Amemiya" }, { "creatorType": "editor", "firstName": "Lora JH", "lastName": "Bean" }, { "creatorType": "editor", "firstName": "Thomas D.", "lastName": "Bird" }, { "creatorType": "editor", "firstName": "Chin-To", "lastName": "Fong" }, { "creatorType": "editor", "firstName": "Heather C.", "lastName": "Mefford" }, { "creatorType": "editor", "firstName": "Richard JH", "lastName": "Smith" }, { "creatorType": "editor", "firstName": "Karen", "lastName": "Stephens" } ], "abstractNote": "Ehlers-Danlos syndrome (EDS), hypermobility type is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft or velvety and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising is common. Functional bowel disorders are likely underrecognized. Autonomic dysfunction, such as orthostatic intolerance, may also be seen. Aortic root dilation is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. Psychological dysfunction, psychosocial impairment, and emotional problems are common., The diagnosis of EDS, hypermobility type is based entirely on clinical evaluation and family history. In most individuals with EDS, hypermobility type, the gene in which mutation is causative is unknown and unmapped. Haploinsufficiency of tenascin-X (encoded by TNXB) has been associated with EDS, hypermobility type in a small subset of affected individuals., Treatment of manifestations: Physical therapy tailored to the individual; assistive devices (braces to improve joint stability; wheelchair or scooter to offload stress on lower-extremity joints; suitable mattress to improve sleep quality); pain medication tailored to symptoms; appropriate therapy for gastritis/reflux /delayed gastric emptying/irritable bowel syndrome; possible beta-blockade for progressive aortic enlargement; psychological and/or pain-oriented counseling. Prevention of primary manifestations: Low-resistance exercise to increase both core and extremity muscle tone for improved joint stability; appropriate writing utensils to reduce finger and hand strain. Prevention of secondary complications: Calcium, vitamin D, low-impact weight-bearing exercise to maximize bone density. Surveillance: DEXA every other year if bone loss is confirmed. Pregnancy management: Labor and delivery may progress very rapidly, even in primigravid women. There is no clear advantage to vaginal vs cesarean delivery. Pregnant women with known aortic root dilation should have an echocardiogram in each trimester. Agents/circumstances to avoid: Joint hyperextension; resistance/isometric exercise can exacerbate joint instability and pain; high-impact activity increases the risk of acute subluxation/dislocation, chronic pain, and osteoarthritis; crutches, canes, and walkers, which put increased stress on the upper extremities, should be used with caution., EDS, hypermobility type is inherited in an autosomal dominant manner. Most individuals diagnosed with the syndrome have an affected parent. The proportion of cases caused by de novo mutation is unknown. Each child of an individual with EDS, hypermobility type has a 50% chance of inheriting the disorder. If the pathogenic variant in TNXB has been identified in an affected family member, prenatal testing for at-risk pregnancies is possible.", "bookTitle": "GeneReviews(®)", "series": "", "seriesNumber": "", "volume": "", "numberOfVolumes": "", "edition": "", "date": "1993", "publisher": "University of Washington, Seattle", "place": "Seattle (WA)", "originalDate": "", "originalPublisher": "", "originalPlace": "", "format": "", "pages": "", "ISBN": "", "DOI": "", "citationKey": "", "url": "http://www.ncbi.nlm.nih.gov/books/NBK1279/", "accessDate": "2016-02-14T03:19:41Z", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "", "language": "eng", "libraryCatalog": "PubMed", "callNumber": "NBK1279", "rights": "Copyright © 1993-2016, University of Washington, Seattle. All rights reserved.", "extra": "PMID: 20301456", "tags": [], "collections": [], "relations": {}, "dateAdded": "2016-02-14T03:19:41Z", "dateModified": "2016-03-11T17:52:46Z" } }, { "key": "92TCG7R2", "version": 43, "library": { "type": "group", "id": 458066, "name": "Ehlers Danlos Capstone", "links": { "alternate": { "href": "https://www.zotero.org/groups/ehlers_danlos_capstone", "type": "text/html" } } }, "links": { "self": { "href": "https://api.zotero.org/groups/458066/items/92TCG7R2", "type": "application/json" }, "alternate": { "href": "https://www.zotero.org/groups/ehlers_danlos_capstone/items/92TCG7R2", "type": "text/html" } }, "meta": { "createdByUser": { "id": 2649022, "username": "cranlevi", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/cranlevi", "type": "text/html" } } }, "lastModifiedByUser": { "id": 2667434, "username": "grifetha", "name": "", "links": { "alternate": { "href": "https://www.zotero.org/grifetha", "type": "text/html" } } }, "creatorSummary": "Castori", "parsedDate": "2012-01", "numChildren": 1 }, "data": { "key": "92TCG7R2", "version": 43, "itemType": "journalArticle", "title": "(1) Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations", "creators": [ { "creatorType": "author", "firstName": "Marco", "lastName": "Castori" } ], "abstractNote": "Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint hypermobility syndrome (JHS/EDS-HT), is likely the most common, though the least recognized, heritable connective tissue disorder. Known for decades as a hereditary condition with predominant rheumatologic manifestations, it is now emerging as a multisystemic disorder with widespread manifestations. Nevertheless, the practitioners' awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis. Among the various sites of disease manifestations, skin and mucosae represent a neglected organ where the dermatologist can easily spot diagnostic clues, which consistently integrate joint hypermobility and other orthopedic/neurologic manifestations at physical examination. In this paper, actual knowledge on JHS/EDS-HT is summarized in various sections. Particular attention has been posed on overlooked manifestations, including cutaneous, mucosal, and oropharyngeal features, and early diagnosis techniques, as a major point of interest for the practicing dermatologist. Actual research progresses on JH/EDS-HT envisage an unexpected link between heritable dysfunctions of the connective tissue and a wide range of functional somatic syndromes, most of them commonly diagnosed in the office of various specialists, comprising dermatologists.", "publicationTitle": "ISRN Dermatology", "publisher": "", "place": "", "date": "January 2012", "volume": "", "issue": "", "section": "", "partNumber": "", "partTitle": "", "pages": "1-22", "series": "", "seriesTitle": "", "seriesText": "", "journalAbbreviation": "ISRN Dermatology", "DOI": "10.5402/2012/751768", "citationKey": "", "url": "http://libpublic3.library.isu.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&db=a9h&AN=86882645&site=eds-live", "accessDate": "2016-02-06T23:29:22Z", "PMID": "", "PMCID": "", "ISSN": "20904592", "archive": "", "archiveLocation": "", "shortTitle": "Ehlers-Danlos Syndrome, Hypermobility Type", "language": "", "libraryCatalog": "EBSCOhost", "callNumber": "", "rights": 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"parsedDate": "2003", "numChildren": 1 }, "data": { "key": "SQ8WXU8H", "version": 41, "itemType": "book", "title": "Hypermobility syndrome: recognition and management for physiotherapists", "creators": [ { "creatorType": "author", "firstName": "R.", "lastName": "Keer" }, { "creatorType": "author", "firstName": "R.", "lastName": "Grahame" } ], "abstractNote": "Presents detailed information on the diagnosis, treatment and management of hypermobility syndrome (HMS), an inherited connective tissue disorder affecting collagen.", "series": "", "seriesNumber": "", "volume": "", "numberOfVolumes": "", "edition": "", "date": "2003", "publisher": "Butterworth Heinemann", "place": "Edinburgh;", "originalDate": "", "originalPublisher": "", "originalPlace": "", "format": "", "numPages": "", "ISBN": "978-0-7506-5390-9", "DOI": "", "citationKey": "", "url": "", "accessDate": "", "ISSN": "", "archive": "", "archiveLocation": "", "shortTitle": "Hypermobility syndrome", "language": "", "libraryCatalog": 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