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Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal.简短通讯：COVID-19大流行后护理限制对马查多-约瑟夫病患者造成严重影响：葡萄牙亚速尔群岛的一项研究。
J Community Genet. 2022 Aug;13(4):459-461. doi: 10.1007/s12687-022-00602-2. Epub 2022 Jul 18.
2
Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal.
J Community Genet. 2022 Jul 18:1-3. doi: 10.1007/s12687-022-00602-2.
3
From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal.从污名化到社会接纳度提高？葡萄牙亚速尔群岛圣米格尔岛的马查多-约瑟夫病患者生活状况
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Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).一种突变的起源：亚速尔群岛（葡萄牙）马查多-约瑟夫病的群体遗传学
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Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.中国家系遗传性脊髓小脑共济失调患者中SCA1、SCA2、SCA3/MJD、SCA6、SCA7和DRPLA CAG三核苷酸重复扩增的频率
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Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD).3型脊髓小脑共济失调（SCA3）在基因上与马查多-约瑟夫病（MJD）相同。
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引用本文的文献

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From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal.从污名化到社会接纳度提高？葡萄牙亚速尔群岛圣米格尔岛的马查多-约瑟夫病患者生活状况
J Community Genet. 2024 Aug 31. doi: 10.1007/s12687-024-00731-w.

本文引用的文献

1
"It seems like COVID-19 now is the only disease present on Earth": living with a rare or undiagnosed disease during the COVID-19 pandemic.“似乎现在地球上只有 COVID-19 一种疾病”：在 COVID-19 大流行期间患有罕见或未确诊疾病的生活。
Genet Med. 2021 May;23(5):837-844. doi: 10.1038/s41436-020-01069-7. Epub 2021 Jan 8.
2
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.葡萄牙遗传性共济失调和痉挛性截瘫的患病率：一项基于人群的研究。
JAMA Neurol. 2013 Jun;70(6):746-55. doi: 10.1001/jamaneurol.2013.1707.
3
Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation.被确诊为马查多-约瑟夫病突变携带者五年后的心理健康状况和家庭满意度水平。
Genet Test Mol Biomarkers. 2012 Dec;16(12):1363-8. doi: 10.1089/gtmb.2011.0370.
4
Epidemiology and population genetics of degenerative ataxias.退行性共济失调的流行病学与群体遗传学
Handb Clin Neurol. 2012;103:227-51. doi: 10.1016/B978-0-444-51892-7.00014-0.
5
Living with Machado-Joseph disease in a small rural community of the Tagus valley.在塔霍河谷的一个乡村小社区中与马查多-约瑟夫病共存。
Community Genet. 1999;2(4):190-5. doi: 10.1159/000016211.

简短通讯：COVID-19大流行后护理限制对马查多-约瑟夫病患者造成严重影响：葡萄牙亚速尔群岛的一项研究。

Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal.

作者信息

Couto Daniela, Sousa Liliana, Sequeiros Jorge, Lima Manuela, Mendes Álvaro

机构信息

Department of Education and Psychology, CINTESIS@RISE, Univ. Aveiro, Aveiro, Portugal.

UnIGENe, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação E Inovação Em Saúde, Univ. Porto, Porto, Portugal.

出版信息

J Community Genet. 2022 Aug;13(4):459-461. doi: 10.1007/s12687-022-00602-2. Epub 2022 Jul 18.

DOI:10.1007/s12687-022-00602-2
PMID:35851653
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9294769/
Abstract

This qualitative study describes how the restrictions imposed by the COVID-19 pandemic impacted on Machado-Joseph disease (MJD) patients and their care, in the island of São Miguel (the Azores, Portugal). In-person semi-structured interviews were conducted with 11 participants, including patients, family members, healthcare professionals, and care providers. Main findings highlighted the key role played by the local association in psychosocial and healthcare for MJD patients and families, and the adverse effects on their care following the onset of the COVID-19 pandemic. In particular, hindered access to the day-care centre increased isolation and had a negative impact on mental health and disease progression. For persons with a progressive and severe neurological disease, there is no "back to normal." Future restrictive measures ensuing need to be accompanied by a careful definition of daily care routines for patients.

摘要

这项定性研究描述了在葡萄牙亚速尔群岛圣米格尔岛，2019年冠状病毒病（COVID-19）大流行所带来的限制对马查多-约瑟夫病（MJD）患者及其护理产生的影响。研究人员对11名参与者进行了面对面的半结构化访谈，这些参与者包括患者、家庭成员、医疗保健专业人员和护理人员。主要研究结果突出了当地协会在为MJD患者及其家庭提供心理社会支持和医疗保健方面所发挥的关键作用，以及COVID-19大流行爆发后对他们护理产生的不利影响。特别是，进入日托中心受阻增加了隔离感，并对心理健康和疾病进展产生了负面影响。对于患有进行性严重神经疾病的患者来说，不存在“恢复正常”的情况。未来随之而来的限制措施需要伴随着为患者精心定义日常护理流程。