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X连锁进行性混合性聋伴镫骨手术时外淋巴瘘

X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.

作者信息

Cremers C W, Hombergen G C, Scaf J J, Huygen P L, Volkers W S, Pinckers A J

出版信息

Arch Otolaryngol. 1985 Apr;111(4):249-54. doi: 10.1001/archotol.1985.00800060073010.

DOI:10.1001/archotol.1985.00800060073010
PMID:3977755
Abstract

Stapes gusher is a rare and usually unexpected complication of stapes surgery. This complication will inevitably be encountered during stapes surgery in all affected males with the X-linked, progressive mixed deafness syndrome. The opportunity of studying eight affected males in a large Dutch family with audiometry, vestibulometry, and polytomography was used to identify specific features. Awareness of these features will assist the otologist in recognizing new cases preoperatively.

摘要

镫骨井喷是镫骨手术中一种罕见且通常出乎意料的并发症。在所有患有X连锁进行性混合性耳聋综合征的男性患者进行镫骨手术时,必然会遇到这种并发症。利用一个荷兰大家族中八名受影响男性的听力测定、前庭功能测定和多层体层摄影术来研究特定特征。了解这些特征将有助于耳科医生在术前识别新病例。

相似文献

1
X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.X连锁进行性混合性聋伴镫骨手术时外淋巴瘘
Arch Otolaryngol. 1985 Apr;111(4):249-54. doi: 10.1001/archotol.1985.00800060073010.
2
Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes gusher.镫骨手术时伴有外淋巴瘘的X连锁进行性混合性聋综合征的听力学特征。
Am J Otol. 1985 May;6(3):243-6.
3
Perilymphatic gusher and stapes surgery. A predictable complication?外淋巴瘘与镫骨手术。一种可预测的并发症?
Clin Otolaryngol Allied Sci. 1983 Aug;8(4):235-40. doi: 10.1111/j.1365-2273.1983.tb01434.x.
4
Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery).
Int J Pediatr Otorhinolaryngol. 1983 Nov;6(2):179-85. doi: 10.1016/s0165-5876(83)80118-9.
5
X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.伴有镫骨足板先天性固定和外淋巴瘘的X连锁混合性耳聋。
Birth Defects Orig Artic Ser. 1971 Mar;07(4):64-9.
6
X-linked deafness, stapes gushers and a distinctive defect of the inner ear.X连锁遗传性耳聋、镫骨涌血与内耳的一种独特缺陷
Neuroradiology. 1991;33(4):326-30. doi: 10.1007/BF00587816.
7
[Familial mixed hearing loss associated with X chromosome and stapedial gusher].[与X染色体及镫骨井喷相关的家族性混合性听力损失]
Acta Otorrinolaringol Esp. 1998 Aug-Sep;49(6):427-30.
8
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.与镫骨手术中出现外淋巴瘘的X连锁进行性混合性耳聋(DFN3)相关的基因与磷酸甘油酸激酶基因(PGK)有关。
Hum Genet. 1988 Dec;80(4):337-40. doi: 10.1007/BF00273647.
9
The unilateral stapes gusher.单侧镫骨井喷
Wien Klin Wochenschr. 2004;116 Suppl 2:90-2.
10
How to prevent a stapes gusher.
Adv Otorhinolaryngol. 2007;65:278-284. doi: 10.1159/000098843.

引用本文的文献

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Considering gene therapy to protect from X-linked deafness DFNX2 and associated neurodevelopmental disorders.考虑采用基因疗法预防X连锁耳聋DFNX2及相关神经发育障碍。
Ibrain. 2022 Sep 27;8(4):431-441. doi: 10.1002/ibra.12068. eCollection 2022 Winter.
2
Gusher in stapes surgery: a systematic review.镫骨手术中的喷涌现象:系统综述。
Eur Arch Otorhinolaryngol. 2019 Sep;276(9):2363-2376. doi: 10.1007/s00405-019-05538-x. Epub 2019 Jul 4.
3
Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse.
Pou3f4介导的ephrin-b2调控控制小鼠颞骨发育。
PLoS One. 2014 Oct 9;9(10):e109043. doi: 10.1371/journal.pone.0109043. eCollection 2014.
4
Audiological and surgical evidence for the presence of a third window effect for the conductive hearing loss in DFNX2 deafness irrespective of types of mutations.听力学和手术证据表明,DFNX2 耳聋患者的传导性听力损失存在第三窗口效应,与突变类型无关。
Eur Arch Otorhinolaryngol. 2013 Nov;270(12):3057-62. doi: 10.1007/s00405-013-2386-3. Epub 2013 Feb 12.
5
Surgery for congenital anomalies of the middle ear with mobile stapes.镫骨活动的中耳先天性异常的手术治疗。
Eur Arch Otorhinolaryngol. 1993;250(6):327-31. doi: 10.1007/BF00188380.
6
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.对雄性存活缺失和重复进行分子分析,可对Xq近端的52个DNA探针进行排序。
Am J Hum Genet. 1988 Oct;43(4):452-61.
7
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.与镫骨手术中出现外淋巴瘘的X连锁进行性混合性耳聋(DFN3)相关的基因与磷酸甘油酸激酶基因(PGK)有关。
Hum Genet. 1988 Dec;80(4):337-40. doi: 10.1007/BF00273647.
8
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.伴有镫骨固定的脉络膜视网膜萎缩症和耳聋:一种Xq21区域的相邻基因缺失综合征
Am J Hum Genet. 1989 Oct;45(4):530-40.
9
X-linked deafness, stapes gushers and a distinctive defect of the inner ear.X连锁遗传性耳聋、镫骨涌血与内耳的一种独特缺陷
Neuroradiology. 1991;33(4):326-30. doi: 10.1007/BF00587816.
10
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).与井喷相关的X连锁混合性耳聋(DFN3)患者的微缺失。
Am J Hum Genet. 1992 Jul;51(1):38-44.