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霍尔特-奥勒姆综合征:麻醉挑战与安全结局

Holt-Oram syndrome: Anesthetic challenges and safe outcome.

作者信息

Rana Meenal, Solanki Sohan Lal, Agarwal Vandana, Divatia Jigeeshu V

机构信息

Department of Anesthesiology, Critical Care and Pain, Tata Memorial Hospital, Mumbai, Maharashtra, India.

出版信息

Ann Card Anaesth. 2017 Jan-Mar;20(1):110-111. doi: 10.4103/0971-9784.197849.

DOI:10.4103/0971-9784.197849
PMID:28074809
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5290681/
Abstract

Holt-Oram syndrome (HOS) is an autosomal dominant disease with skeletal and cardiac manifestations. We here are presenting a 31-year-old man and a diagnosed case of HOS, with an ulceroproliferative lesion on lateral border of the tongue, was posted for wide excision of lesion with primary closure and left side radical neck dissection.

摘要

霍尔特-奥拉姆综合征(HOS)是一种具有骨骼和心脏表现的常染色体显性疾病。我们在此介绍一名31岁男性,他被诊断为霍尔特-奥拉姆综合征,舌外侧缘有一个溃疡增殖性病变,计划进行病变广泛切除并一期缝合,同时行左侧根治性颈清扫术。

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本文引用的文献

1
Malignant hyperthermia-like manifestations in a two-month-old child with Holt-Oram syndrome undergoing cardiac surgery.一名患有霍尔特-奥拉姆综合征的两个月大儿童在心脏手术期间出现恶性高热样表现。
J Cardiothorac Vasc Anesth. 2014 Oct;28(5):1326-7. doi: 10.1053/j.jvca.2013.03.017. Epub 2013 Sep 5.
2
Anesthetic implications in Holt-Oram Syndrome.Holt-Oram综合征的麻醉要点
Ann Card Anaesth. 2013 Apr-Jun;16(2):157-8. doi: 10.4103/0971-9784.109780.
3
Anaesthetic management of emergency cesarean section in a patient with holt oram syndrome.一名患有 Holt-Oram 综合征患者急诊剖宫产的麻醉管理
J Anaesthesiol Clin Pharmacol. 2010 Oct;26(4):541-3.
4
Tbx5-mediated expression of Ca(2+)/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis.Tbx5介导的钙/钙调蛋白依赖性蛋白激酶II的表达对于斑马鱼心脏和胸鳍形态发生是必需的。
Dev Biol. 2009 Jun 1;330(1):175-84. doi: 10.1016/j.ydbio.2009.03.024. Epub 2009 Apr 1.
5
Anesthesia for cesarean section in a patient with Holt-Oram syndrome.一名患有 Holt-Oram 综合征患者的剖宫产麻醉
Int J Obstet Anesth. 2007 Jan;16(1):86-8. doi: 10.1016/j.ijoa.2006.08.010. Epub 2006 Nov 27.
6
Familial heart disease with skeletal malformations.伴有骨骼畸形的家族性心脏病。
Br Heart J. 1960 Apr;22(2):236-42. doi: 10.1136/hrt.22.2.236.
7
Current advances in Holt-Oram syndrome.Holt-Oram综合征的当前进展
Curr Opin Pediatr. 2002 Dec;14(6):691-5. doi: 10.1097/00008480-200212000-00008.
8
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.Holt-Oram综合征由TBX5基因突变引起,TBX5是短尾(T)基因家族的成员之一。
Nat Genet. 1997 Jan;15(1):21-9. doi: 10.1038/ng0197-21.
9
Holt-Oram syndrome: a clinical genetic study.霍尔特-奥拉姆综合征:一项临床遗传学研究。
J Med Genet. 1996 Apr;33(4):300-7. doi: 10.1136/jmg.33.4.300.
10
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome).霍尔特-奥拉姆综合征(心手综合征)的临床及遗传谱系
N Engl J Med. 1994 Mar 31;330(13):885-91. doi: 10.1056/NEJM199403313301302.