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International Journal of Rare Diseases & Disorders最新文献

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Att. to Kabuki Syndrome (ORPHA: 2322) 歌舞伎综合症(ORPHA: 2322)
International Journal of Rare Diseases & Disorders Pub Date : 1900-01-01 DOI: 10.23937/2643-4571/1710047
Mascher Hermann Josef
{"title":"Att. to Kabuki Syndrome (ORPHA: 2322)","authors":"Mascher Hermann Josef","doi":"10.23937/2643-4571/1710047","DOIUrl":"https://doi.org/10.23937/2643-4571/1710047","url":null,"abstract":"• Page 1 of 1 • Mascher. Int J Rare Dis Disord 2022, 5:047 Citation: Mascher HJ (2022) Att. to Kabuki Syndrome (ORPHA: 2322). Int J Rare Dis Disord 5:047. doi. org/10.23937/2643-4571/1710047 Accepted: July 22, 2022; Published: July 24, 2022 Copyright: © 2022 Mascher HJ. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ISSN: 2643-4571","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"77 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134593423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of Raising Children with Rare Diseases on Parental Quality of Life and Family Functioning 罕见病儿童的抚养对父母生活质量和家庭功能的影响
International Journal of Rare Diseases & Disorders Pub Date : 1900-01-01 DOI: 10.23937/2643-4571/1710053
Lim Yoonjeong
{"title":"Impact of Raising Children with Rare Diseases on Parental Quality of Life and Family Functioning","authors":"Lim Yoonjeong","doi":"10.23937/2643-4571/1710053","DOIUrl":"https://doi.org/10.23937/2643-4571/1710053","url":null,"abstract":"","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121756408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Kikuchi-Fujimoto Disease, A Case Report from Australia 澳大利亚菊池-藤本病1例报告
International Journal of Rare Diseases & Disorders Pub Date : 1900-01-01 DOI: 10.23937/2643-4571/1710046
Guerrero Cecilia, Gu Sherman
{"title":"Kikuchi-Fujimoto Disease, A Case Report from Australia","authors":"Guerrero Cecilia, Gu Sherman","doi":"10.23937/2643-4571/1710046","DOIUrl":"https://doi.org/10.23937/2643-4571/1710046","url":null,"abstract":"Kikuchi-Fujimoto disease (KFD), also known as Kikuchi’s disease or histiocytic necrotising lymphadenitis, is a rare and benign medical condition of unknown aetiology. It is often misdiagnosed as lymphoma or systemic lupus erythematosus (SLE), leading to inappropriate investigations and delayed treatment. It is thus important for clinicians to be cognizant of this condition when assessing patients with cervical lymphadenopathy. This case report outlines the clinical course and treatment of a 52-year-old Chinese woman who presented to her general practitioner (GP) and later the emergency department with cervical lymphadenopathy and general malaise. A lymph node biopsy revealed a diagnosis of KFD, and she was treated with prednisolone and hydroxychloroquine with full remission of symptoms after two months. Clinicians should hold a high degree of suspicion of KFD for young women who have cervical lymphadenopathy, especially those of oriental origin.","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"65 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133764418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Collagenous Sprue, a Rare Intestinal Pathology with Dismal Outcome 胶原性口疮，一种罕见的肠道病理，预后不佳
International Journal of Rare Diseases & Disorders Pub Date : 1900-01-01 DOI: 10.23937/2643-4571/1710055
Wang Nan Fang, Kang Nam Gu
{"title":"Collagenous Sprue, a Rare Intestinal Pathology with Dismal Outcome","authors":"Wang Nan Fang, Kang Nam Gu","doi":"10.23937/2643-4571/1710055","DOIUrl":"https://doi.org/10.23937/2643-4571/1710055","url":null,"abstract":"","PeriodicalId":227434,"journal":{"name":"International Journal of Rare Diseases & Disorders","volume":"46 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121994324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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