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2A型Usher综合征中的稳定和进行性听力损失。

Stable and progressive hearing loss in type 2A Usher's syndrome.

作者信息

van Aarem A, Pinckers A J, Kimberling W J, Huygen P L, Bleeker-Wagemakers E M, Cremers C W

机构信息

Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands.

出版信息

Ann Otol Rhinol Laryngol. 1996 Dec;105(12):962-7. doi: 10.1177/000348949610501206.

Abstract

Audiograms were traced or additionally performed on 23 Usher's syndrome patients in 10 Dutch multi-affected families, all linked to chromosome 1q (USH2A locus). Serial audiograms, available in 13 patients, were used for a regression analysis of binaural pure tone average on age (follow-up, 9 to 32 years) to test for "significant progression," ie, a significant regression coefficient, here called the "annual threshold increase" (ATI, expressed in decibels per year). A significant ATI (> 1 dB/y) was observed in 3 patients. Analysis of variance of ATI demonstrated significant heterogeneity; hearing loss was either stable or progressive. This implies a significant clinical heterogeneity. A similar analysis performed on our progressive USH2A cases and "type III" cases previously reported by others (ATI of 1 to 5 dB/y), some of which were recently linked to chromosome 3q (USH3 locus), failed to show any significant heterogeneity in the progression of hearing loss.

摘要

对来自10个荷兰多患者家庭的23名患有Usher综合征的患者进行了听力图追踪或额外检测,所有患者均与1号染色体(USH2A位点)相关。13名患者有连续听力图,用于对双耳纯音平均听阈与年龄(随访9至32年)进行回归分析,以检验“显著进展”,即显著的回归系数,此处称为“年阈值增加”(ATI,以每年分贝数表示)。3名患者观察到显著的ATI(>1 dB/y)。对ATI的方差分析显示出显著的异质性;听力损失要么稳定要么进展。这意味着显著的临床异质性。对我们的进行性USH2A病例和其他人先前报告的“III型”病例(ATI为1至5 dB/y)进行的类似分析,其中一些最近与3号染色体(USH3位点)相关,未显示出听力损失进展方面的任何显著异质性。

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