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[与X染色体及镫骨井喷相关的家族性混合性听力损失]

[Familial mixed hearing loss associated with X chromosome and stapedial gusher].

作者信息

Almodóvar Iñesta A, Viviente Rodríguez E, Sprekelsen Gassó C, Navarro Navarro M, Làfuente De Entrambasaguas J L, Capitán Guarnizo A, Argudo Marco F

机构信息

Servicio de ORL, Hospital General Universitario, Murcia.

出版信息

Acta Otorrinolaringol Esp. 1998 Aug-Sep;49(6):427-30.

PMID:9830215
Abstract

Perilymphatic and/or CSF loss through the oval window during stapedectomy is called a gusher. This rare disorder is associated with X-linked progressive mixed hearing loss. It is related with mutations in the POU3F4 gene at locus DFN3 on Xq21. Our study of the cases seen in our department yielded information and clinical and radiological findings that could be useful for the clinical management, early diagnosis, and prevention of erroneous therapeutic indications.

摘要

镫骨切除术中通过卵圆窗的外淋巴和/或脑脊液漏称为喷射征。这种罕见的疾病与X连锁进行性混合性听力损失有关。它与位于Xq21上DFN3位点的POU3F4基因突变有关。我们对本部门所见病例的研究得出了一些信息以及临床和影像学发现,这些信息和发现可能有助于临床管理、早期诊断以及预防错误的治疗指征。

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1
[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.
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
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.
4
Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher.对具有临床和影像学证据的X连锁混合性耳聋伴外淋巴瘘患者的POU3F4基因进行分子分析。
Ann Otol Rhinol Laryngol. 1997 Apr;106(4):320-5. doi: 10.1177/000348949710600411.
5
Computed tomographic diagnosis of X-linked congenital mixed deafness, fixation of the stapedial footplate, and perilymphatic gusher.X连锁先天性混合性耳聋、镫骨足板固定及外淋巴瘘的计算机断层扫描诊断
Am J Otol. 1994 Mar;15(2):177-82.
6
Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss.与重度感觉神经性听力损失相关的转录因子 POU3F4 同源盒结构域的新型突变。
Otol Neurotol. 2011 Jun;32(4):690-4. doi: 10.1097/MAO.0b013e318210b749.
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X-linked mixed deafness syndrome with congenital fixation of the stapedial footplate and perilymphatic gusher (DFN3).
Adv Otorhinolaryngol. 2002;61:161-7. doi: 10.1159/000066826.
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X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.X连锁进行性混合性耳聋:一种涉及Xq21更近端区域的新微缺失。
Am J Hum Genet. 1995 Jan;56(1):224-30.
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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.
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Preoperative computed tomography scan may fail to predict perilymphatic gusher.术前计算机断层扫描可能无法预测外淋巴瘘。
Ann Otol Rhinol Laryngol. 2013 Jun;122(6):374-7. doi: 10.1177/000348941312200605.