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Chew T.,University of Sydney | Haase B.,University of Sydney | Bathgate R.,University of Sydney | Willet C.E.,Hub Sydney | And 4 more authors.
G3: Genes, Genomes, Genetics | Year: 2017

Progressive retinal atrophy is a common cause of blindness in the dog and affects > 100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis pigmentosa, the canine disorder is clinically and genetically heterogeneous and the underlying cause remains unknown for many cases. We use a positional candidate gene approach to identify putative variants in the Hungarian Puli breed using genotyping data of 14 family-based samples (CanineHD BeadChip array, Illumina) and whole-genome sequencing data of two proband and two parental samples (Illumina HiSeq 2000). A single nonsense SNP in exon 2 of BBS4 (c.58A > T, p.Lys20*) was identified following filtering of high quality variants. This allele is highly associated (PCHISQ = 3.425e-14, n = 103) and segregates perfectly with progressive retinal atrophy in the Hungarian Puli. In humans, BBS4 is known to cause Bardet-Biedl syndrome which includes a retinitis pigmentosa phenotype. From the observed coding change we expect that no functional BBS4 can be produced in the affected dogs. We identified canine phenotypes comparable with Bbs4-null mice including obesity and spermatozoa flagella defects. Knockout mice fail to form spermatozoa flagella. In the affected Hungarian Puli spermatozoa flagella are present, however a large proportion of sperm are morphologically abnormal and < 5% are motile. This suggests that BBS4 contributes to flagella motility but not formation in the dog. Our results suggest a promising opportunity for studying Bardet-Biedl syndrome in a large animal model. © 2017 Chew et al.


Monaghan J.J.M.,Medical Research Council Institute of Hearing Research | Monaghan J.J.M.,Hub Sydney | Seeber B.U.,Medical Research Council Institute of Hearing Research | Seeber B.U.,TU Munich
Journal of the Acoustical Society of America | Year: 2016

The ability of normal-hearing (NH) listeners to exploit interaural time difference (ITD) cues conveyed in the modulated envelopes of high-frequency sounds is poor compared to ITD cues transmitted in the temporal fine structure at low frequencies. Sensitivity to envelope ITDs is further degraded when envelopes become less steep, when modulation depth is reduced, and when envelopes become less similar between the ears, common factors when listening in reverberant environments. The vulnerability of envelope ITDs is particularly problematic for cochlear implant (CI) users, as they rely on information conveyed by slowly varying amplitude envelopes. Here, an approach to improve access to envelope ITDs for CIs is described in which, rather than attempting to reduce reverberation, the perceptual saliency of cues relating to the source is increased by selectively sharpening peaks in the amplitude envelope judged to contain reliable ITDs. Performance of the algorithm with room reverberation was assessed through simulating listening with bilateral CIs in headphone experiments with NH listeners. Relative to simulated standard CI processing, stimuli processed with the algorithm generated lower ITD discrimination thresholds and increased extents of laterality. Depending on parameterization, intelligibility was unchanged or somewhat reduced. The algorithm has the potential to improve spatial listening with CIs. © 2016 Author(s).


Looi V.,Hub Sydney | Lee Z.Z.,National University of Singapore | Loo J.H.Y.,National University of Singapore
European Annals of Otorhinolaryngology, Head and Neck Diseases | Year: 2016

Objectives The Children Using Hearing Devices Quality of Life Questionnaire (CuHDQOL) is a new parent-administered hearing-specific questionnaire for children fitted with hearing devices. The aim of this study was to assess outcomes for hearing-impaired children in Singapore using this measure, as well as to examine its applicability for use in a clinical setting. Materials and methods The CuHDQOL has 26 items, uses a recall period of 1 month, and is divided into three sections: parental perspectives and expectations (eight items), impact on the family (eight items) and hearing-related quality of life (QOL) of the child (10 items). Responses are made on a 5-point Likert scale, and transformed to a score from 0–100. Twenty-two parents of children with hearing aids and 14 parents of children with cochlear implants completed the CuHDQOL. Results The mean total CuHDQOL scores was 62/100 for the children using hearing aids and 53/100 for children with cochlear implants. Scores for the children using hearing aids were higher across all subscales, with a linear regression showing this to be significant for the parental perspectives and expectations subscale (B = −10.58, P = 0.041). Analyses of Variance showed that both the ‘Parent Perspective and Expectations’ and the ‘Hearing-related QOL’ subscales were significantly higher than the ‘Impact on Family’ subscale for both groups (P ≤ 0.003). Conclusions The CuHDQOL was found to be a simple, efficient questionnaire that could easily be incorporated into clinical practice to provide a more holistic evaluation of a child's outcomes post intervention, and/or to monitor their progress over time. © 2016 Elsevier Masson SAS


PubMed | Hub Sydney and National University of Singapore
Type: | Journal: European annals of otorhinolaryngology, head and neck diseases | Year: 2016

The Children Using Hearing Devices Quality of Life Questionnaire (CuHDQOL) is a new parent-administered hearing-specific questionnaire for children fitted with hearing devices. The aim of this study was to assess outcomes for hearing-impaired children in Singapore using this measure, as well as to examine its applicability for use in a clinical setting.The CuHDQOL has 26 items, uses a recall period of 1 month, and is divided into three sections: parental perspectives and expectations (eight items), impact on the family (eight items) and hearing-related quality of life (QOL) of the child (10 items). Responses are made on a 5-point Likert scale, and transformed to a score from 0-100. Twenty-two parents of children with hearing aids and 14 parents of children with cochlear implants completed the CuHDQOL.The mean total CuHDQOL scores was 62/100 for the children using hearing aids and 53/100 for children with cochlear implants. Scores for the children using hearing aids were higher across all subscales, with a linear regression showing this to be significant for the parental perspectives and expectations subscale (B=-10.58, P=0.041). Analyses of Variance showed that both the Parent Perspective and Expectations and the Hearing-related QOL subscales were significantly higher than the Impact on Family subscale for both groups (P0.003).The CuHDQOL was found to be a simple, efficient questionnaire that could easily be incorporated into clinical practice to provide a more holistic evaluation of a childs outcomes post intervention, and/or to monitor their progress over time.


Liu L.,La Trobe University | Field J.,University of Sydney | Fullagar R.,Hub Sydney | Fullagar R.,University of Wollongong | And 3 more authors.
Antiquity | Year: 2010

Grinding stones have provided a convenientproxy for the arrival of agriculture in Neolithic China. Not any more. Thanks to highprecision analyses of use-wear and starch residue, the authors show that early Neolithic people were mainly using these stones to process acorns. This defines a new stage in the long transition of food production from huntergatherer to farmer.


Mealings K.T.,Macquarie University | Demuth K.,Macquarie University | Buchholz J.M.,Macquarie University | Buchholz J.M.,Hub Sydney | Dillon H.,Hub Sydney
Acoustics 2015 Hunter Valley | Year: 2015

Open plan classrooms, where several class bases share the same space, have recently re-emerged in Australian primary schools. This paper compiled the results of three recent studies to compare both the acoustic parameters and speech perception test results in four different Kindergarten classrooms (an enclosed classroom with 25 students, a double classroom with 44 students, an untreated linear fully open plan triple classroom with 91 students, and a purpose-built semi-open plan K-6 classroom with 205 students) with the children's ratings about how well they could hear their teacher. Compiling these results allowed a regression analyses to be undertaken to establish the acoustic limits needed for children to rate they could hear their teacher 'well' (here defined as the 'hear well' criteria). Ambient noise levels, intrusive noise levels, and teacher's speech levels were recorded during different activities and room impulse responses were recorded for different teaching scenarios. From these recordings average noise levels, signal-to-noise ratios, speech transmission index scores, and reverberation times were calculated. These parameters were compared to the current Australian/New Zealand acoustic standards for classrooms (AS/NZS2107:2000), the acoustic recommendations in the literature for classrooms with 5-6-year-old children, and the derived 'hear well' criteria. The results revealed much higher intrusive noise levels in the two largest open plan classrooms (especially the untreated triple classroom), resulting in signal-to-noise ratios and speech transmission index scores to be well below the 'hear well' criteria. Results from the speech perception task also revealed poorer scores and slower response times in the triple open plan classroom compared to the other classrooms. Additionally, children's speech perception abilities decreased the further away they were seated from the teacher in the classrooms with higher noise levels resulting in scores outside the 'hear well' criteria. These results suggest students may have difficulty listening and learning in open plan classrooms and teachers are likely to strain their voice from needing to speak above a comfortable level to be heard. Additionally, the regression analysis results from the children's questionnaires confirmed that the acoustic recommendations suggested in the literature need to be met in order for the children to be able to hear their teacher 'well'. These results suggest that it may be beneficial for Australia to implement acoustic standards for unoccupied and occupied classrooms and have enforced criteria for classroom designs to ensure they meet these standards so children are comfortable and able to learn effectively in every educational setting.


Summerhayes G.R.,University of Otago | Leavesley M.,University of Papua New Guinea | Fairbairn A.,University of Queensland | Mandui H.,National Museum and Art Gallery of Papua New Guinea | And 3 more authors.
Science | Year: 2010

After their emergence by 200,000 years before the present in Africa, modern humans colonized the globe, reaching Australia and New Guinea by 40,000 to 50,000 years ago. Understanding how humans lived and adapted to the range of environments in these areas has been difficult because well-preserved settlements are scarce. Data from the New Guinea Highlands (at an elevation of ∼2000 meters) demonstrate the exploitation of the endemic nut Pandanus and yams in archaeological sites dated to 49,000 to 36,000 years ago, which are among the oldest human sites in this region. The sites also contain stone tools thought to be used to remove trees, which suggests that the early inhabitants cleared forest patches to promote the growth of useful plants.


Qummouh R.,Hub Sydney | Rose V.,University of Liverpool | Hall P.,Liverpool Neighbourhood Connections
Health Promotion Journal of Australia | Year: 2012

Issue addressed: Safety is a health issue and a significant concern in disadvantaged communities. This paper describes an example of community-initiated action to address perceptions of fear and safety in a suburb in south-west Sydney which led to the development of a local, community-driven research project. Methods: As a first step in developing community capacity to take action on issues of safety, a joint resident-agency group implemented a community safety mapping project to identify the extent of safety issues in the community and their exact geographical location. Two aerial maps of the suburb, measuring one metre by two metres, were placed on display at different locations for four months. Residents used coloured stickers to identify specific issues and exact locations where crime and safety were a concern. Results: Residents identified 294 specific safety issues in the suburb, 41.9% (n≤123) associated with public infrastructure, such as poor lighting and pathways, and 31.9% (n≤94) associated with drug-related issues such as drug activity and discarded syringes. Conclusions: Good health promotion practice reflects community need. In a very practical sense, this project responded to community calls for action by mapping resident knowledge on specific safety issues and exact locations and presenting these maps to local decisionmakers for further action.


Orinos C.,Hub Sydney
Proceedings of Meetings on Acoustics | Year: 2013

The evaluation of hearing aids (HAs) inside realistic sound environments is of increasing interest. Higher-order Ambisonics (HOA) has been used for loudspeaker-based sound field resynthesis and HOA recording microphone arrays are available. Although HOA has been evaluated perceptually, it is unclear how far the results can be transferred to evaluating HA technologies (particularly multi-microphone enhancement algorithms). In order to determine the minimum HOA order required for HA testing, an HOA framework was developed, simulating the entire path from sound presented in a room, picked up by a microphone array, decoded and received at the ears of a HA-fitted dummy head. HA directivity patterns were compared between an ideal free-field and its HOA representation to evaluate the introduced error. In-room analysis was conducted to investigate the bandwidth and performance of a directional microphone in realistic situations. For a bandwidth B, the required order was found to be M≤B/600Hz for the anechoic (worst) case scenario. The presence of reverberation introduced natural room response variations across different source-receiver locations, suggesting that the acceptable HOA error can be increased. Hence, in reverberant environments the required HOA order is reduced and at least 2D HOA reproduction can be used for evaluation of HA technologies. © 2013 Acoustical Society of America.


Buchholz J.M.,Hub Sydney
Proceedings of Meetings on Acoustics | Year: 2013

The Listening in Spatialized Noise-Sentences (LiSN-S) test has been widely applied to diagnose spatial processing disorder in both normally hearing and hearing impaired listeners who are proficient in English. The overall goal of the present study is to develop a spatial listening test that assesses similar spatial auditory processes as the LiSN-S test but does not rely on speech input and thus, is language independent. Therefore a three-alternative forced choice (3AFC) stream segregation task was implemented using a series of continuously in- or decreasing tone-complexes as targets and random tone-complexes as distractors and foils. Similar to the LiSN-S test the signals were either spatially co-located or separated using non-individualized HRTFs and the difference in thresholds defined the spatial release from masking (SRM). In order to achieve similar large SRM effects (of up to 14 dB) as observed with the LiSN-S test in normal hearing listeners, temporal jitter had to be introduced. The effect of the amount of temporal jitter was investigated on the SRM as a function of tone-complex duration. The results revealed that a jitter of about 30ms in combination with a tone-complex duration of about 30ms is sufficient to elicit the desired SRM. © 2013 Acoustical Society of America.

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