未确诊的强直性肌营养不良:病例报告和文献综述。

Medicine international Pub Date : 2023-08-29 eCollection Date: 2023-09-01 DOI:10.3892/mi.2023.106
Tomonori Yamada, Natsumi Fukano, Kentaro Kai, Yoshihide Kuribayashi, Mika Jikumaru, Satoshi Eto, Yasushi Kawano
{"title":"未确诊的强直性肌营养不良:病例报告和文献综述。","authors":"Tomonori Yamada,&nbsp;Natsumi Fukano,&nbsp;Kentaro Kai,&nbsp;Yoshihide Kuribayashi,&nbsp;Mika Jikumaru,&nbsp;Satoshi Eto,&nbsp;Yasushi Kawano","doi":"10.3892/mi.2023.106","DOIUrl":null,"url":null,"abstract":"<p><p>Myotonic dystrophy (MD) is an autosomal dominant disorder primarily characterized by myotonia. The present study describes the case of a 42-year-old woman who was transferred to the authors' department with acute abdomen and restrictive respiratory failure. Computed tomography revealed a 15-cm right ovarian tumor and atelectasis. An abdominal right salpingo-oophorectomy was performed under general anesthesia. She was then extubated after surgery; however, shortly thereafter she was re-incubated due to poor oxygenation and was then moved to the intensive care unit (ICU) for a further analysis of weaning failure. During her stay in the ICU, weaning was attempted twice, but failed both times. The patient underwent a tracheotomy 7 days after surgery. Consultation with a neurologist suggested possible MD. Following genetic testing, type I MD with ~700-1,100 cytosine-thymine-guanine repeats in the dystrophia myotonia protein kinase gene was confirmed. The patient was then transferred to a specialty hospital at 2 months after surgery. On the whole, the case described herein suggests that clinicians need to become familiar with this disease as a differential diagnosis for post-operative weaning failure.</p>","PeriodicalId":74161,"journal":{"name":"Medicine international","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10514565/pdf/","citationCount":"0","resultStr":"{\"title\":\"Undiagnosed myotonic dystrophy: A case report and literature review.\",\"authors\":\"Tomonori Yamada,&nbsp;Natsumi Fukano,&nbsp;Kentaro Kai,&nbsp;Yoshihide Kuribayashi,&nbsp;Mika Jikumaru,&nbsp;Satoshi Eto,&nbsp;Yasushi Kawano\",\"doi\":\"10.3892/mi.2023.106\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Myotonic dystrophy (MD) is an autosomal dominant disorder primarily characterized by myotonia. The present study describes the case of a 42-year-old woman who was transferred to the authors' department with acute abdomen and restrictive respiratory failure. Computed tomography revealed a 15-cm right ovarian tumor and atelectasis. An abdominal right salpingo-oophorectomy was performed under general anesthesia. She was then extubated after surgery; however, shortly thereafter she was re-incubated due to poor oxygenation and was then moved to the intensive care unit (ICU) for a further analysis of weaning failure. During her stay in the ICU, weaning was attempted twice, but failed both times. The patient underwent a tracheotomy 7 days after surgery. Consultation with a neurologist suggested possible MD. Following genetic testing, type I MD with ~700-1,100 cytosine-thymine-guanine repeats in the dystrophia myotonia protein kinase gene was confirmed. The patient was then transferred to a specialty hospital at 2 months after surgery. On the whole, the case described herein suggests that clinicians need to become familiar with this disease as a differential diagnosis for post-operative weaning failure.</p>\",\"PeriodicalId\":74161,\"journal\":{\"name\":\"Medicine international\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-08-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10514565/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicine international\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3892/mi.2023.106\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/9/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine international","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3892/mi.2023.106","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/9/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

强直性肌营养不良(MD)是一种常染色体显性遗传疾病,主要以肌强直为特征。本研究描述了一名42岁女性的病例,她因急腹症和限制性呼吸衰竭被转移到作者的科室。计算机断层扫描显示右侧卵巢肿瘤15厘米,肺不张。在全身麻醉下进行腹部右侧输卵管卵巢切除术。手术后拔管;然而,不久之后,由于氧合不良,她被重新孵化,然后被转移到重症监护室(ICU),对断奶失败进行进一步分析。在她入住重症监护室期间,曾两次尝试断奶,但两次都失败了。患者在手术后7天接受了气管切开术。与神经科医生协商后提出了可能的MD。经过基因测试,在肌营养不良肌强直蛋白激酶基因中具有约700-1100个胞嘧啶-胸腺嘧啶-鸟嘌呤重复序列的I型MD被证实。手术后2个月,患者被转移到专科医院。总的来说,本文所述的病例表明,临床医生需要熟悉这种疾病,将其作为术后断奶失败的鉴别诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

摘要图片

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Undiagnosed myotonic dystrophy: A case report and literature review.

Myotonic dystrophy (MD) is an autosomal dominant disorder primarily characterized by myotonia. The present study describes the case of a 42-year-old woman who was transferred to the authors' department with acute abdomen and restrictive respiratory failure. Computed tomography revealed a 15-cm right ovarian tumor and atelectasis. An abdominal right salpingo-oophorectomy was performed under general anesthesia. She was then extubated after surgery; however, shortly thereafter she was re-incubated due to poor oxygenation and was then moved to the intensive care unit (ICU) for a further analysis of weaning failure. During her stay in the ICU, weaning was attempted twice, but failed both times. The patient underwent a tracheotomy 7 days after surgery. Consultation with a neurologist suggested possible MD. Following genetic testing, type I MD with ~700-1,100 cytosine-thymine-guanine repeats in the dystrophia myotonia protein kinase gene was confirmed. The patient was then transferred to a specialty hospital at 2 months after surgery. On the whole, the case described herein suggests that clinicians need to become familiar with this disease as a differential diagnosis for post-operative weaning failure.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Cardiovascular dysautonomia and cognitive impairment in Parkinson's disease (Review). Association of iron deficiency anaemia with the hospitalization and mortality rate of patients with COVID‑19. Multi‑label classification of biomedical data. Recent advances in the use of resveratrol against Staphylococcus aureus infections (Review). Exploring perinatal care and birth experiences in women with visual impairment: A retrospective study.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1