{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1390853257565377152.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.2490/prm.20210048"}},{"identifier":{"@type":"URI","@value":"https://www.jstage.jst.go.jp/article/prm/6/0/6_20210048/_pdf"}},{"identifier":{"@type":"PMID","@value":"34909512"}},{"identifier":{"@type":"NAID","@value":"130008125972"}},{"identifier":{"@type":"URI","@value":"https://search.jamas.or.jp/link/ui/2023054286"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@language":"en","@value":"Health-related Quality of Life in Adult Patients with Multiple Epiphyseal Dysplasia and Spondyloepiphyseal Dysplasia"}],"dc:language":"en","description":[{"type":"abstract","notation":[{"@language":"en","@value":"<p><b>Objectives: </b>Multiple epiphyseal dysplasia (MED) and spondyloepiphyseal dysplasia (SED) are skeletal dysplasias associated with premature osteoarthritis and short stature. Patients with SED often have spinal and ocular problems. Few reports have focused on the health-related quality of life (HRQoL) of patients with skeletal dysplasias associated with premature osteoarthritis. The purpose of this study was to evaluate the HRQoL of adult patients with MED and SED.</p><p><b>Methods: </b>Questionnaires covering demographics, medical history (cataract, retinal detachment, and osteoarthritis), surgical history (osteotomy and arthroplasty), and the Short Form-36 (SF-36) health survey were sent to all patients with MED and SED with medical records at the investigators’ institutions. Among the 27 patients who completed the questionnaire, patients aged 20 years or older were included in this cohort.</p><p><b>Results: </b>The subjects were 18 affected individuals. The physical component summary score (PCS) was significantly lower in the MED and SED groups than in the normal population and tended to deteriorate with age. Conversely, there was a positive correlation between the mental component summary score and age. The role/social component summary score was not correlated with age. MED patients with osteoarthritis had a low PCS. PCS was particularly low in two SED patients with a medical history of cataract, whereas there was no association with a history of retinal detachment or osteoarthritis.</p><p><b>Conclusions: </b>The physical domain of HRQoL in MED and SED patients significantly deteriorated at a young age. Appropriate medical management of these skeletal dysplasias is required not only for orthopedic functions but also for ocular problems.</p>"}],"abstractLicenseFlag":"disallow"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1420282801197553280","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"40646519"},{"@type":"NRID","@value":"1000040646519"},{"@type":"NRID","@value":"9000283727409"},{"@type":"NRID","@value":"9000414554476"},{"@type":"NRID","@value":"9000411115274"},{"@type":"NRID","@value":"9000366504935"},{"@type":"NRID","@value":"9000414835846"},{"@type":"RESEARCHMAP","@value":"https://researchmap.jp/7000016506"}],"foaf:name":[{"@language":"en","@value":"Mishima Kenichi"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1420282801210934656","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"60721115"},{"@type":"NRID","@value":"1000060721115"},{"@type":"NRID","@value":"9000283727416"},{"@type":"NRID","@value":"9000414554474"},{"@type":"NRID","@value":"9000411115273"},{"@type":"NRID","@value":"9000366504937"},{"@type":"NRID","@value":"9000414835845"},{"@type":"NRID","@value":"9000415345161"}],"foaf:name":[{"@language":"en","@value":"Matsushita Masaki"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1410853257565377154","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000414554477"}],"foaf:name":[{"@language":"en","@value":"Kamiya Yasunari"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1410853257565377152","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000414554478"}],"foaf:name":[{"@language":"en","@value":"Haga Nobuhiko"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Rehabilitation Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan"}]},{"@id":"https://cir.nii.ac.jp/crid/1410853257565377280","@type":"Researcher","personIdentifier":[{"@type":"NRID","@value":"9000414554479"}],"foaf:name":[{"@language":"en","@value":"Fujiwara Sayaka"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Rehabilitation Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, 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Hiroshi"}],"jpcoar:affiliationName":[{"@language":"en","@value":"Department of Orthopaedic Surgery, Aichi Children’s Health and Medical Center, Obu, Japan"},{"@language":"en","@value":"Department of Comprehensive Pediatric Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan"}]}],"publication":{"publicationIdentifier":[{"@type":"EISSN","@value":"24321354"},{"@type":"LISSN","@value":"24321354"}],"prism:publicationName":[{"@language":"ja","@value":"Progress in Rehabilitation Medicine"},{"@language":"en","@value":"Progress in Rehabilitation Medicine"},{"@language":"en","@value":"PRM"}],"dc:publisher":[{"@language":"en","@value":"The Japanese Association of Rehabilitation Medicine"},{"@language":"ja","@value":"公益社団法人 日本リハビリテーション医学会"}],"prism:publicationDate":"2021","prism:volume":"6","prism:number":"0","prism:startingPage":"n/a"},"reviewed":"false","url":[{"@id":"https://www.jstage.jst.go.jp/article/prm/6/0/6_20210048/_pdf"},{"@id":"https://search.jamas.or.jp/link/ui/2023054286"}],"availableAt":"2021","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=multiple%20epiphyseal%20dysplasia","dc:title":"multiple epiphyseal dysplasia"},{"@id":"https://cir.nii.ac.jp/all?q=quality%20of%20life","dc:title":"quality of life"},{"@id":"https://cir.nii.ac.jp/all?q=SF-36","dc:title":"SF-36"},{"@id":"https://cir.nii.ac.jp/all?q=spondyloepiphyseal%20dysplasia","dc:title":"spondyloepiphyseal 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