GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods [0.03%]
德国非综合征性神经感觉听力损失患者的GJB2突变及基因型表型相关性:当前方法未能检测到的附加隐性突变的证据
O Bartsch,A Vatter,U Zechner et al.
O Bartsch et al.
We report on 335 patients (319 families) with mild-to-profound nonsyndromic sensorineural hearing loss. We identified 178 mutated GJB2 alleles representing 29 different sequence changes (including 3 novel mutations: Q7P, N14D, H100Q), and 2...
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy [0.03%]
OTOF基因突变导致的台湾听力神经病患者的耳聋
Yu-Hsun Chiu,Chen-Chi Wu,Ying-Chang Lu et al.
Yu-Hsun Chiu et al.
Mutations in the OTOF gene have been found to be common causes of auditory neuropathy (AN) in Caucasians. However, the prevalence and spectrum of OTOF mutations in other populations have been inadequately documented. To explore the genetic ...
Evidence of gadolinium distribution from the endolymphatic sac to the endolymphatic compartments of the human inner ear [0.03%]
人耳内耳内淋巴囊与内淋巴腔室钆分布的证据
Vittorio Colletti,Marco Mandalà,Marco Carner et al.
Vittorio Colletti et al.
To verify whether injection of substances into the endolymphatic sac (ES) diffuses into the endolymphatic compartments of the human inner ear and in particular to the endolymphatic space of the scala media (ESp-SM), as demonstrated in anima...
Jennifer L Krizman,Erika Skoe,Nina Kraus
Jennifer L Krizman
Many sounds in the environment, including speech, are temporally dynamic. The auditory brainstem is exquisitely sensitive to temporal features of the incoming acoustic stream, and by varying the speed of presentation of these auditory signa...
A new model for utricular function testing using a sinusoidal translation profile during unilateral centrifugation [0.03%]
一种新的前庭功能检测模型:在单侧离心力作用下使用正弦平移谱图进行检测
K I Buytaert,S A E Nooij,X Neyt et al.
K I Buytaert et al.
The utricle plays an important role in orientation with respect to gravity. The unilateral centrifugation test allows a side-by-side investigation of both utricles. During this test, the subject is rotated about an earth-vertical axis at hi...
Depth of electrode insertion and postoperative performance in humans with cochlear implants: a histopathologic study [0.03%]
人工耳蜗电极插入深度及术后表现的组织病理学研究
Joonhan Lee,Joseph B Nadol Jr,Donald K Eddington
Joonhan Lee
The depth of electrode insertion of a multichannel cochlear implant has been suggested as a clinical variable that may correlate with word recognition using the implant. The current study evaluates this relationship using the human temporal...
Jeffrey P Harris,Thomas H Alexander
Jeffrey P Harris
Previously reported prevalence rates of Ménière's syndrome (MS) have ranged from 3.5 per 100000 to 513 per 100000. Recent data regarding the prevalence in the United States are lacking. To further assess the current-day prevalence of MS i...
Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation [0.03%]
SLC26A4基因突变所致大 vestibularaqueduct的胚胎种植前遗传学诊断(胚胎植入前筛查)
Chen-Chi Wu,Shin-Yu Lin,Yi-Nin Su et al.
Chen-Chi Wu et al.
Preimplantation genetic diagnosis (PGD) is used to analyze embryos genetically before their transfer into the uterus. For families with genetic diseases, PGD offers a chance to have an unaffected child, without facing termination of pregnan...
Effects of age and working memory capacity on pitch pattern sequence test and dichotic listening [0.03%]
年龄和工作记忆容量对调高模式序列测试和双耳听觉测试的影响
Siti Z Mukari,C Umat,Nor I Othman
Siti Z Mukari
This study assessed the effects of age and working memory capacity on dichotic listening and temporal sequencing. Double Dichotic Digit Test (DDT), Pitch Pattern Sequence Test (PPST) and Digit Span Test were administered on 40 healthy adult...
Round window membrane implantation with an active middle ear implant: a study of the effects on the performance of round window exposure and transducer tip diameter in human cadaveric temporal bones [0.03%]
圆窗膜植入与主动中耳植入体效果的研究:人体颞骨标本圆窗暴露及换能器直径的作用
Stéphane Tringali,Kanthaiah Koka,Arnaud Deveze et al.
Stéphane Tringali et al.
Objectives: To assess the importance of 2 variables, transducer tip diameter and resection of the round window (RW) niche, affecting the optimization of the mechanical stimulation of the RW membrane with an active middle ...