Abstract:
OBJECTIVE:The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1)-related diseases and their consequences on hearing function. DESIGN:A literature search of peer-reviewed, published journal articles was conducted in online bibliographic databases. STUDY SAMPLE:Three databases for medical research were included in this review. RESULTS:Mutations in PRPS1 are associated with a spectrum of non-syndromic to syndromic hearing loss. Hearing loss in male patients with PRPS1 mutations is bilateral, moderate to profound, and can be prelingual or postlingual, progressive or non-progressive. Audiogram shapes associated with PRPS1 deafness are usually residual and flat. Female carriers can have unilateral or bilateral hearing impairment. Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic sensorineural deafness type 2 (DFN2), or in syndromic deafness including Arts syndrome and X-linked Charcot-Marie-Tooth disease-5 (CMTX5). CONCLUSIONS:Lower residual activity in PRS-I leads to a more severe clinical manifestation. Clinical and molecular findings suggest that the four PRPS1 disorders discovered to date belong to the same disease spectrum. Dietary supplementation with S-adenosylmethionine (SAM) appeared to alleviate the symptoms of Arts syndrome patients, suggesting that SAM could compensate for PRS-I deficiency.
journal_name
Int J Audioljournal_title
International journal of audiologyauthors
Liu XZ,Xie D,Yuan HJ,de Brouwer AP,Christodoulou J,Yan Ddoi
10.3109/14992027.2012.736032subject
Has Abstractpub_date
2013-01-01 00:00:00pages
23-8issue
1eissn
1499-2027issn
1708-8186journal_volume
52pub_type
杂志文章,评审abstract::Cochlear implantation is effective at restoring partial hearing to profoundly deaf adults, but not all patients receive equal benefit. The present study evaluated the effectiveness of a computer-based self-administered training package that was designed to improve speech perception among adults who had used cochlear i...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.3109/14992020903397838
更新日期:2010-05-01 00:00:00
abstract:OBJECTIVE:To describe, in terms of functional gain and word recognition, the audiological results of patients under 18 years of age implanted with the active bone conduction implant, Bonebridge™. DESIGN:Retrospective case studies conducted by reviewing the medical records of patients receiving implants between 2014 an...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992027.2017.1370137
更新日期:2018-01-01 00:00:00
abstract::This investigation examined how age and test condition affect one's ability to comprehend discourse passages, and determined whether age and test condition affect discourse comprehension and closed-set sentence recognition in a similar way. Young and older adults were tested with closed-set sentences from the newly-cr...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992020802301662
更新日期:2008-11-01 00:00:00
abstract::Children with listening difficulties, but normal audiometry, may be diagnosed with APD. The diagnosis is typically based on poor performance on tests of perception of both non-speech and speech stimuli. However, non-speech test results correlate only weakly with evaluations of speech-in-noise processing, cognitive ski...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.3109/14992027.2012.723143
更新日期:2013-01-01 00:00:00
abstract:OBJECTIVE:This study investigated differences in functional hearing quality between youth with cochlear implants (CIs) and normal hearing (NH) peers, as well as associations between functional hearing quality and audiological measures, speech perception, language and executive functioning (EF). DESIGN:Youth with CIs a...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992027.2020.1826586
更新日期:2020-10-01 00:00:00
abstract:OBJECTIVE:Current hearing aid prescription rules assume that spectral loudness summation decreases with hearing impairment and that binaural loudness summation is independent of hearing loss and signal bandwidth. Previous studies have shown that these assumptions might be incorrect. Spectral loudness summation was meas...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992027.2020.1832263
更新日期:2020-10-24 00:00:00
abstract:OBJECTIVE:We assessed the reliability of a hearing risk factor screening survey used by hearing conservation programmes for noise-exposed workers. DESIGN:We compared workers' answers from the screening survey to their answers to a confidential research questionnaire regarding hearing loss risk factors. We calculated k...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992027.2016.1226520
更新日期:2016-12-01 00:00:00
abstract:OBJECTIVE:The purpose of this scoping review was two-fold, (1) to provide information about the characteristics, type of service delivery, participant information and outcomes related to tele-audiology in clinical popluations, and (2) to describe documented facilitators and barriers to tele-audiology delivery from the ...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992027.2020.1817994
更新日期:2020-09-10 00:00:00
abstract:OBJECTIVE:The aim was to investigate whether frequency compression (FC) hearing aids provide additional benefit to that conferred by conventional amplification. DESIGN:Participants wore the same hearing aid with FC enabled and disabled for six weeks (ABA design) in each condition. Speech recognition tests (in both qui...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.3109/14992027.2014.948217
更新日期:2015-01-01 00:00:00
abstract::This paper reports on an evaluation of a structured group therapy intervention for adult cochlear implant (CI) recipients designed to improve overall communication and coping skills. 33 adult CI recipients (14 males, 19 females; mean age 61; 1-14 years since Cl) participated in a 2-day structured group therapy interve...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992020500060404
更新日期:2005-05-01 00:00:00
abstract::A research program was undertaken to evaluate the efficacy of an audiovisual-FM system as a speechreading aid. The present study investigated the effects of the distance between the talker and the speechreader on a visual-speech perception task. Sentences were recorded simultaneously with a conventional Hi8 mm video c...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992020500485718
更新日期:2006-05-01 00:00:00
abstract::The primary aim of this study was to examine the effects of frequency-modulated (FM) settings on speech-recognition performance in noise of listeners using two different cochlear implant speech processors. Participants included eight users of ESPrit 3G speech processors and nine users of Auria speech processors. A mod...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992020802572635
更新日期:2009-04-01 00:00:00
abstract:OBJECTIVE:To design a test battery and conduct a proof-of-concept experiment of a test method that can be used to measure the detection performance afforded by military advanced hearing protection devices (HPDs) and tactical communication and protective systems (TCAPS). DESIGN:The detection test was conducted with eac...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992027.2016.1256505
更新日期:2017-01-01 00:00:00
abstract:OBJECTIVE:Hearing loss (HL) affects the everyday functioning of millions of people worldwide. The Brief International Classification of Functioning Disability and Health (ICF) core sets for HL was developed to meet the complex health care needs of adults with HL. Because the brief core set for HL has not yet been valid...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992027.2020.1846088
更新日期:2020-11-18 00:00:00
abstract:OBJECTIVES:To introduce the Italian adaptation of the STARR test based on a roving-level adaptive method to mimic challenging real-life listening conditions for use in people with auditory prostheses. DESIGN:Normative data were collected and interlist-variability, as well as learning effects, were investigated using a...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.3109/14992027.2015.1124296
更新日期:2016-01-01 00:00:00
abstract::This study analyses results from the first Swedish UNHS program. It includes over 33 000 measurement files from 14 287 children at two maternity wards. The screening program uses a two-stage TEOAE test procedure. A database was created in MedLog after data transformation in Word and Excel. The coverage rate was 99.1%....
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992020701459868
更新日期:2007-11-01 00:00:00
abstract:OBJECTIVE:Specific computer-based auditory training may be a useful completion in the rehabilitation process for cochlear implant (CI) listeners to achieve sufficient speech intelligibility. This study evaluated the effectiveness of a computerized, phoneme-discrimination training programme. DESIGN:The study employed a...
journal_title:International journal of audiology
pub_type: 杂志文章,随机对照试验
doi:10.3109/14992027.2014.969409
更新日期:2015-03-01 00:00:00
abstract::The purpose of this study was to evaluate cisplatin-induced ototoxicity and the protective effects of tiopronin. Twenty-four adult Wistar rats served as subjects and were divided into three groups. Eight rats receiving only saline (group A) were used as controls. Eight rats received cisplatin (2 mg/kg) injections (gro...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992020400050059
更新日期:2004-09-01 00:00:00
abstract:OBJECTIVES:Previous studies show that intracochlear electrical stimulation independent of environmental sounds appears to suppress tinnitus, even long-term. In order to assess the viability of this potential treatment option it is essential to study the effects of this tinnitus specific electrical stimulation on speech...
journal_title:International journal of audiology
pub_type: 杂志文章,随机对照试验
doi:10.1080/14992027.2017.1408964
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:Sudden sensorineural hearing loss (SSHL) is characterized by a rapid loss of hearing, most often of cochlear origin. Very little attention has been paid in the literature to quality of life (QoL), psychosocial consequences and audiological rehabilitation after SSHL. DESIGN:We studied how level of hearing los...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.3109/14992027.2010.533705
更新日期:2011-02-01 00:00:00
abstract:OBJECTIVE:For a noise-exposed group of workers, group-averaged and individual changes were compared for pure-tone audiometry, transient-evoked otoacoustic emissions (TEOAEs), and distortion product otoacoustic emissions (DPOAEs) in order to see if they exhibit the same pattern in time. DESIGN:Baseline and 17-months fo...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.3109/14992027.2011.653447
更新日期:2012-05-01 00:00:00
abstract:OBJECTIVE:This research assessed the reduction of peak levels, equivalent energy and sound power of firearm suppressors. DESIGN:The first study evaluated the effect of three suppressors at four microphone positions around four firearms. The second study assessed the suppressor-related reduction of sound power with a 3...
journal_title:International journal of audiology
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更新日期:2018-02-01 00:00:00
abstract::The purpose of this research was to investigate the congruent/incongruent perceptions of hearing-loss related quality of life between members of couples and to determine how incongruence was affected by individual psychosocial characteristics, specifically measures of mood (negative affect and positive affect), stress...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.3109/14992020903311396
更新日期:2010-04-01 00:00:00
abstract::Hearing-aid use in the elderly population is problematic since not all people who would benefit from hearing aids actually obtain one. In this study, the relationship between pre-fitting expectations and willingness to use hearing aids is addressed. One hundred adult hearing aid candidates (mean age 68.6 years) were r...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992020701843111
更新日期:2008-04-01 00:00:00
abstract::Tympanometry using 226 Hz, 678 Hz, and 1000 Hz probe tones was undertaken on two groups of babies, age 2 to 21 weeks. A group of 104 babies with normal ABR thresholds or TEOAEs were compared with a second group of 107 babies who had evidence of temporary conductive hearing loss based on the findings of a test battery,...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.1080/14992020600690951
更新日期:2006-07-01 00:00:00
abstract::We evaluated the benefits of fast-acting WDRC, slow-acting AVC, and linear reference fittings for speech intelligibility and reported disability, in a within-subject within-device masked crossover design on 50 listeners with SNHL. Five hearing aid fittings were implemented having two compression channels and seven fre...
journal_title:International journal of audiology
pub_type: 杂志文章,随机对照试验
doi:10.1080/14992020500429518
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to evaluate the feasibility of conducting a randomized controlled trial (RCT) on the effect of motivational interviewing (MI) on hearing-aid use. DESIGN:This was a pilot single-blind, randomized parallel-group study conducted in the UK. STUDY SAMPLE:Thirty-seven adult patients who...
journal_title:International journal of audiology
pub_type: 杂志文章,随机对照试验
doi:10.3109/14992027.2015.1074733
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVE:To describe the audiological journey of a group of infants with auditory neuropathy spectrum disorder (ANSD) following the fitting of hearing aids, and to investigate the potential benefits of including cortical auditory-evoked potentials (CAEPs) and a measure of functional auditory behaviour during early aud...
journal_title:International journal of audiology
pub_type: 杂志文章
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更新日期:2015-08-01 00:00:00
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journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.3109/14992027.2010.533200
更新日期:2011-04-01 00:00:00
abstract:OBJECTIVE:To investigate word recognition in noise in subjects treated in childhood with chemotherapy, study benefits of open-fitting hearing-aids for word recognition, and investigate whether self-reported hearing-handicap corresponded to subjects' word recognition ability. DESIGN:Subjects diagnosed with cancer and t...
journal_title:International journal of audiology
pub_type: 杂志文章
doi:10.3109/14992027.2011.585667
更新日期:2011-10-01 00:00:00