• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

一种用于评估FBN1基因突变及马凡氏综合征临床特征患者硬脊膜扩张的新定量方法的性能

Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome.

作者信息

Söylen Bahar, Hinz Kerstin, Prokein Jana, Becker Hartmut, Schmidtke Jörg, Arslan-Kirchner Mine

机构信息

Institute of Human Genetics, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany.

出版信息

Neuroradiology. 2009 Jun;51(6):397-400. doi: 10.1007/s00234-009-0508-9. Epub 2009 Feb 19.

DOI:10.1007/s00234-009-0508-9
PMID:19225772
Abstract

INTRODUCTION

This study presents a comparison of established methods for measuring dural ectasia with a new quantitative method of assessing this clinical feature.

METHODS

Seventeen patients with an identified mutation in FBN1 were examined for dural ectasia. The results were compared with 17 age- and sex-matched controls. Our images were also evaluated using the two methods of quantifying dural ectasia, namely those of Ahn et al. and of Oosterhof et al.

RESULTS

With our method, 80% MFS1 patients and 7% controls fulfilled the criterion for dural ectasia. Using the method of Oosterhof et al., dural ectasia was found in 88% patients with MFS1 and in 47% controls. Using the method of Ahn et al. 76% patients with Marfan syndrome and 29% controls showed dural ectasia.

CONCLUSION

We present a novel quantitative method of evaluating MRT images for dural ectasia, which, in our own patient cohort, performed better than those previously described.

摘要

引言

本研究对测量硬脊膜扩张的既定方法与评估这一临床特征的新定量方法进行了比较。

方法

对17名已确定FBN1基因突变的患者进行硬脊膜扩张检查。将结果与17名年龄和性别匹配的对照者进行比较。我们的图像还使用了两种量化硬脊膜扩张的方法进行评估,即安等人的方法和奥斯特霍夫等人的方法。

结果

采用我们的方法,80%的MFS1患者和7%的对照者符合硬脊膜扩张标准。使用奥斯特霍夫等人的方法,在88%的MFS1患者和47%的对照者中发现硬脊膜扩张。使用安等人的方法,76%的马凡综合征患者和29%的对照者显示有硬脊膜扩张。

结论

我们提出了一种评估磁共振成像(MRT)图像中硬脊膜扩张的新定量方法,在我们自己的患者队列中,该方法比先前描述的方法表现更好。

相似文献

1
Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome.一种用于评估FBN1基因突变及马凡氏综合征临床特征患者硬脊膜扩张的新定量方法的性能
Neuroradiology. 2009 Jun;51(6):397-400. doi: 10.1007/s00234-009-0508-9. Epub 2009 Feb 19.
2
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.63例具有1型马凡综合征和洛伊氏综合征特征的基因突变阳性患者硬脊膜扩张的患病率及22种新的FBN1基因突变报告
Clin Genet. 2009 Mar;75(3):265-70. doi: 10.1111/j.1399-0004.2008.01126.x. Epub 2009 Jan 20.
3
Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.40例马凡综合征及相关疾病患者的硬脊膜扩张和FBN1基因突变筛查:硬脊膜扩张在诊断中的作用
Eur J Med Genet. 2013 Jul;56(7):356-60. doi: 10.1016/j.ejmg.2013.04.006. Epub 2013 May 15.
4
Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2.具有马凡样特征但排除 FBN1、TGFBR1 和 TGFBR2 基因突变的个体中的硬脑膜扩张症。
Clin Genet. 2011 Jun;79(6):568-74. doi: 10.1111/j.1399-0004.2010.01494.x.
5
Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation.对150例由FBN1基因突变引起的患者的硬脊膜扩张症进行综合分析。
Clin Genet. 2014 Sep;86(3):238-45. doi: 10.1111/cge.12264. Epub 2013 Sep 23.
6
Evaluation of three different measurement methods for dural ectasia in Marfan syndrome.马凡综合征中硬脊膜扩张三种不同测量方法的评估
Clin Radiol. 2006 Nov;61(11):971-8. doi: 10.1016/j.crad.2006.05.015.
7
MR evaluation of dural ectasia in Marfan syndrome: reassessment of the established criteria in children, adolescents, and young adults.马凡综合征中硬脊膜扩张的磁共振成像评估:对儿童、青少年及年轻成人既定标准的重新评估
Radiology. 2005 Feb;234(2):535-41. doi: 10.1148/radiol.2342031497. Epub 2004 Dec 22.
8
A method for morphological characterization of dural ectasia in Marfan syndrome.一种用于马凡综合征中硬脊膜扩张形态学特征分析的方法。
Annu Int Conf IEEE Eng Med Biol Soc. 2009;2009:5764-7. doi: 10.1109/IEMBS.2009.5332525.
9
Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome.关于硬脊膜扩张的理解:马凡综合征小鼠模型的光学显微镜研究
Spine (Phila Pa 1976). 2005 Feb 1;30(3):291-3. doi: 10.1097/01.brs.0000152166.88174.1c.
10
Quantitative assessment of dural ectasia as a marker for Marfan syndrome.将硬脊膜扩张作为马凡综合征标志物的定量评估。
Radiology. 2001 Aug;220(2):514-8. doi: 10.1148/radiology.220.2.r01au08514.

引用本文的文献

1
MRI-Derived Dural Sac and Lumbar Vertebrae 3D Volumetry Has Potential for Detection of Marfan Syndrome.磁共振成像衍生的硬脊膜囊和腰椎三维容积测量法在检测马凡综合征方面具有潜力。
Diagnostics (Basel). 2024 Jun 19;14(12):1301. doi: 10.3390/diagnostics14121301.
2
The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.马凡综合征的肌肉骨骼表现:诊断、影响和管理。
Curr Rheumatol Rep. 2021 Nov 26;23(11):81. doi: 10.1007/s11926-021-01045-3.
3
Noninvasive diagnosis and management of spontaneous intracranial hypotension in patients with marfan syndrome: Case Report and Review of the Literature.

本文引用的文献

1
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.63例具有1型马凡综合征和洛伊氏综合征特征的基因突变阳性患者硬脊膜扩张的患病率及22种新的FBN1基因突变报告
Clin Genet. 2009 Mar;75(3):265-70. doi: 10.1111/j.1399-0004.2008.01126.x. Epub 2009 Jan 20.
2
Dural ectasia as presenting symptom of Marfan syndrome.硬脊膜扩张作为马凡综合征的首发症状。
Isr Med Assoc J. 2008 Mar;10(3):194-5.
3
Evaluation of three different measurement methods for dural ectasia in Marfan syndrome.
马凡综合征患者自发性颅内低压的无创诊断与管理:病例报告及文献综述
Surg Neurol Int. 2014 Jan 21;5:8. doi: 10.4103/2152-7806.125629. eCollection 2014.
4
Spinal imaging features in Japanese patients with Marfan syndrome: a case-control study.日本马凡综合征患者的脊柱影像学特征:一项病例对照研究。
Jpn J Radiol. 2014 Apr;32(4):205-10. doi: 10.1007/s11604-014-0285-1. Epub 2014 Jan 30.
5
Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls.Loeys-Dietz 综合征患者硬脑膜扩张症的患病率:与马凡综合征和正常对照者的比较。
PLoS One. 2013 Sep 25;8(9):e75264. doi: 10.1371/journal.pone.0075264. eCollection 2013.
6
Dural ectasia in adolescent idiopathic scoliosis: quantitative assessment on magnetic resonance imaging.青少年特发性脊柱侧凸的硬脑膜扩张症:磁共振成像的定量评估。
Eur Spine J. 2010 May;19(5):754-9. doi: 10.1007/s00586-010-1355-4. Epub 2010 Mar 9.
马凡综合征中硬脊膜扩张三种不同测量方法的评估
Clin Radiol. 2006 Nov;61(11):971-8. doi: 10.1016/j.crad.2006.05.015.
4
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.在76例马凡综合征患者中鉴定出29种新的和9种复发性原纤维蛋白-1(FBN1)突变以及基因型与表型的相关性。
Hum Mutat. 2005 Dec;26(6):529-39. doi: 10.1002/humu.20239.
5
Characterization of the symptoms associated with dural ectasia in the Marfan patient.马凡氏综合征患者硬脊膜扩张相关症状的特征分析。
Am J Med Genet A. 2005 Apr 1;134A(1):58-65. doi: 10.1002/ajmg.a.30525.
6
Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.对76名无亲缘关系的马凡综合征或类马凡综合征特征患者的原纤维蛋白-1(FBN1)基因进行突变筛查,发现了11个新突变和3个先前报道过的突变。
Hum Mutat. 2002 Nov;20(5):406-7. doi: 10.1002/humu.9075.
7
Case 47: dural ectasia associated with Marfan syndrome.病例47:与马方综合征相关的硬脊膜扩张症。
Radiology. 2002 Jun;223(3):767-71. doi: 10.1148/radiol.2233000971.
8
Quantitative assessment of dural ectasia as a marker for Marfan syndrome.将硬脊膜扩张作为马凡综合征标志物的定量评估。
Radiology. 2001 Aug;220(2):514-8. doi: 10.1148/radiology.220.2.r01au08514.
9
Dural ectasia in the Marfan syndrome: MR and CT findings and criteria.马方综合征中的硬脊膜扩张:磁共振成像(MR)和计算机断层扫描(CT)表现及标准
Genet Med. 2000 May-Jun;2(3):173-9. doi: 10.1097/00125817-200005000-00003.
10
Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT.马凡综合征中椎管增宽和硬脊膜扩张:CT评估
Neuroradiology. 1999 Nov;41(11):850-4. doi: 10.1007/s002340050856.