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Growing Old Too Fast: A Rare Case of Werner Syndrome.衰老过快:一例罕见的沃纳综合征病例
Cureus. 2019 May 24;11(5):e4743. doi: 10.7759/cureus.4743.
2
Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.糖尿病合并早衰症:一例不典型沃纳综合征伴新型 LMNA 突变的病例报告及文献复习。
Endocr J. 2019 Nov 28;66(11):961-969. doi: 10.1507/endocrj.EJ19-0014. Epub 2019 Jul 4.
3
Severe metabolic disorders coexisting with Werner syndrome: a case report.伴有 Werner 综合征的严重代谢紊乱:病例报告。
Endocr J. 2021 Mar 28;68(3):261-267. doi: 10.1507/endocrj.EJ20-0448. Epub 2020 Oct 20.
4
A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome.一个患有沃纳综合征的家族中与下颌发育不全、耳聋、早老样特征和脂肪营养不良综合征相关的新发突变
J Investig Med High Impact Case Rep. 2018 Jul 12;6:2324709618786770. doi: 10.1177/2324709618786770. eCollection 2018 Jan-Dec.
5
Oxidative stress and antioxidant response in fibroblasts from Werner and atypical Werner syndromes.沃纳综合征和非典型沃纳综合征成纤维细胞中的氧化应激与抗氧化反应。
Aging (Albany NY). 2014 Mar;6(3):231-45. doi: 10.18632/aging.100649.
6
Mutations Involved in Premature-Ageing Syndromes.与早衰综合征相关的突变
Appl Clin Genet. 2021 Jun 2;14:279-295. doi: 10.2147/TACG.S273525. eCollection 2021.
7
Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.对导致经典型和非典型沃纳综合征的新型基因改变的研究与见解。
Gerontology. 2014;60(3):239-46. doi: 10.1159/000356030. Epub 2014 Jan 3.
8
[Atypical Werner syndrome: Atypical progeroid syndrome: A case report].
An Pediatr (Barc). 2010 Aug;73(2):94-7. doi: 10.1016/j.anpedi.2010.02.012. Epub 2010 May 10.
9
Speeding up the clock: The past, present and future of progeria.加速时钟:早衰症的过去、现在与未来
Dev Growth Differ. 2016 Jan;58(1):116-30. doi: 10.1111/dgd.12251. Epub 2015 Dec 21.
10
Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes.早老综合征中的动脉粥样硬化和心血管疾病。
J Atheroscler Thromb. 2022 Apr 1;29(4):439-447. doi: 10.5551/jat.RV17061. Epub 2021 Sep 11.

引用本文的文献

1
Renal dysfunction, malignant neoplasms, atherosclerotic cardiovascular diseases, and sarcopenia as key outcomes observed in a three-year follow-up study using the Werner Syndrome Registry.在一项为期三年的随访研究中,使用 Werner 综合征登记处观察到的肾功能障碍、恶性肿瘤、动脉粥样硬化性心血管疾病和肌肉减少症等主要结局。
Aging (Albany NY). 2023 May 1;15(9):3273-3294. doi: 10.18632/aging.204681.
2
Atherosclerosis and Cardiovascular Diseases in Progeroid Syndromes.早老综合征中的动脉粥样硬化和心血管疾病。
J Atheroscler Thromb. 2022 Apr 1;29(4):439-447. doi: 10.5551/jat.RV17061. Epub 2021 Sep 11.

本文引用的文献

1
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.沃纳综合征:临床特征、发病机制及潜在治疗干预措施。
Ageing Res Rev. 2017 Jan;33:105-114. doi: 10.1016/j.arr.2016.03.002. Epub 2016 Mar 15.
2
WRN protein as a novel erythroblast immunohistochemical marker with applications for the diagnosis of Werner syndrome.WRN蛋白作为一种新型的成红细胞免疫组化标志物,在沃纳综合征诊断中的应用。
Virchows Arch. 2015 Mar;466(3):343-50. doi: 10.1007/s00428-014-1703-6. Epub 2014 Dec 12.
3
Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry.南亚沃纳综合征患者中特定种族的WRN突变:印度或巴基斯坦血统患者中可能存在的奠基者效应。
Mol Genet Genomic Med. 2013 May 1;1(1):7-14. doi: 10.1002/mgg3.1.
4
Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey.基于日本全国流行病学调查的 Werner 综合征诊断标准。
Geriatr Gerontol Int. 2013 Apr;13(2):475-81. doi: 10.1111/j.1447-0594.2012.00913.x. Epub 2012 Jul 23.
5
Case report of a long-surviving Werner syndrome patient with severe aortic valve stenosis.一名患有严重主动脉瓣狭窄的长期存活的沃纳综合征患者的病例报告。
Geriatr Gerontol Int. 2012 Jan;12(1):174-5. doi: 10.1111/j.1447-0594.2011.00748.x.
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Werner syndrome in an Iranian family.一个伊朗家庭中的沃纳综合征
Skinmed. 2010 May-Jun;8(3):184-6.
7
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.WRN 突变在 Werner 综合征患者中的研究:基因组重排、异常内含子突变和种族特异性改变。
Hum Genet. 2010 Jul;128(1):103-11. doi: 10.1007/s00439-010-0832-5. Epub 2010 May 5.
8
The spectrum of WRN mutations in Werner syndrome patients.沃纳综合征患者中WRN基因突变谱。
Hum Mutat. 2006 Jun;27(6):558-67. doi: 10.1002/humu.20337.
9
Positional cloning of the Werner's syndrome gene.沃纳综合征基因的定位克隆
Science. 1996 Apr 12;272(5259):258-62. doi: 10.1126/science.272.5259.258.
10
On cataract in conjunction with scleroderma. Otto Werner, doctoral dissertation, 1904, Royal Ophthalmology Clinic, Royal Christian Albrecht University of Kiel.论白内障与硬皮病。奥托·维尔纳,博士论文,1904年,基尔皇家克里斯蒂安·阿尔布雷希特大学皇家眼科诊所。
Adv Exp Med Biol. 1985;190:1-14.

衰老过快:一例罕见的沃纳综合征病例

Growing Old Too Fast: A Rare Case of Werner Syndrome.

作者信息

Kaur Anahat, Grover Punita, Albawaliz Anas, Chauhan Mahak, Barthel Brandon

机构信息

Internal Medicine, University of Missouri-Kansas City School of Medicine, Kansas City, USA.

Hematology and Oncology, University of Cincinnati, Cincinnati, USA.

出版信息

Cureus. 2019 May 24;11(5):e4743. doi: 10.7759/cureus.4743.

DOI:10.7759/cureus.4743
PMID:31363425
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6663278/
Abstract

Werner syndrome (WS) is rare adult-onset progeria characterized by premature aging and early death. Patients develop normally until adolescence and usually present in early adulthood. Our case highlights a common presentation of this uncommon disease, wherein a 29-year-old non-obese male with no known risk factors developed uncontrolled diabetes, hypertriglyceridemia, and rapidly progressive atherosclerotic vascular disease. Careful observation with attention to the presence of characteristic physical features and subsequent genetic testing helped diagnose the patient with this uncommon progeroid syndrome. Our case adds to the literature about this rare disease especially in patients of middle-eastern descent and also highlights the importance of having a high index of suspicion for WS when the initial clinical presentation is atypical.

摘要

沃纳综合征(WS)是一种罕见的成人早老症,其特征为早衰和早亡。患者在青春期前发育正常,通常在成年早期发病。我们的病例突出了这种罕见疾病的常见表现,即一名29岁无已知危险因素的非肥胖男性患上了难以控制的糖尿病、高甘油三酯血症和快速进展的动脉粥样硬化性血管疾病。通过仔细观察并留意特征性体征的存在,以及随后的基因检测,帮助诊断该患者患有这种罕见的早老样综合征。我们的病例补充了关于这种罕见疾病的文献,特别是在中东血统患者中,并且还强调了当初始临床表现不典型时,对沃纳综合征保持高度怀疑指数的重要性。