103 resultados para Non-syndromic hearing loss

em Queensland University of Technology - ePrints Archive


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Objective: This paper asks whether Indigenous health policies might be improved if governments listened to Indigenous voices, both Australian and those who drafted the Declaration on the Rights of Indigenous Peoples, 2007. Methods: A fundamental tenet of the Declaration, which Australia endorsed in 2009, is respect for Indigenous knowledge and voice. The author analyses legal, cultural and historical sources for evidence of this respect. The metaphorical and empirical framework of the analysis is the epidemic of otitis media among Indigenous children. Results: A survey of Indigenous advice about health clearly demonstrates that access to their land and respect for the diversity of Indigenous cultures should inform health policies. Despite, however, claiming to consult Indigenous peoples, policy-makers have not been listening. In many Indigenous languages not listening, or ‘bad ears’, has connotations of disrespect. Conclusions: By turning a deaf ear to Indigenous knowledge governments are undermining any respect Indigenous peoples may have for them and their policies. A new approach is needed. Implications: The Declaration on the Rights of Indigenous Peoples can provide federal, state and territory governments with benchmarks against which health policy can be developed and implemented. Authentic consultation could restore Indigenous confidence in government policies.

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An on-road study was conducted to evaluate a complementary tactile navigation signal on driving behaviour and eye movements for drivers with hearing loss (HL) compared to drivers with normal hearing (NH). 32 participants (16 HL and 16 NH) performed two preprogrammed navigation tasks. In one, participants received only visual information, while the other also included a vibration in the seat to guide them in the correct direction. SMI glasses were used for eye tracking, recording the point of gaze within the scene. Analysis was performed on predefined regions. A questionnaire examined participant's experience of the navigation systems. Hearing loss was associated with lower speed, higher satisfaction with the tactile signal and more glances in the rear view mirror. Additionally, tactile support led to less time spent viewing the navigation display.

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Background Definitive cisplatin-based is increasingly delivered as the treatment of choice for patients with head and neck cancer. Sensorineural hearing loss is a significant long term side effect of cisplatin-based chemoradiation and is associated with potential major quality of life issues for patients. Purpose The purpose of this manuscript was to review the mechanism behind sensorineural hearing loss in patients treated with cisplatin-based chemoradiation, including incidence, the contributions of radiotherapy and cisplatin to sensorineural hearing loss and the impact of the toxicity on patient quality of life. Methods Database searches were conducted through PubMed (National Centre for Biotechnology Information) and OvidSP Medline via the Queensland University of Technology Library website. General article searches were conducted through the online search engine Google Scholar. Articles were excluded if the full-text was unavailable, they were not in English or if they were published prior to 1990. Keywords included hearing loss, ototoxicity, cancer, quality of life, cisplatin and radiotherapy. Results/Discussion The total number of journal articles accessed was 290. Due to exclusion criteria, 129 articles were deemed appropriated for review. Findings indicated that sensorineural hearing loss is a significant, long term complication for patients treated with cisplatin-based chemoradiation. Current literature recognises the ototoxic effects of cisplatin and cranial irradiation as separate entities, however the impact of combined modality therapy on sensorineural hearing loss is seldom reported. Multiple risk factors for hearing loss are described, however there are contradictory opinions on incidence and severity and the exact radiation dose threshold responsible for inducing hearing loss in patients receiving combined modality therapy. Sensorineural hearing loss creates a subset of complexities for patients with head and neck cancer and that these patients face significant quality of life impairment. Conclusion The literature review identified that sensorineural hearing loss is a major quality of life issue for patients treated with cisplatin-based chemoradiation for head and neck cancer. Further investigation evaluating the contribution of cisplatin-based chemoradiation to sensorineural hearing loss and the subsequent effect on patient quality of life is warranted.

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Adopting a social constructionist framework, the authors conducted a synthetic discourse analysis to explore how people living in Australia with deafness construct their experience of deafness. An online forum facilitated access and communication between the lead author and 24 widely dispersed and linguistically diverse forum contributors. The authors discuss the productive and restrictive effects of the emergent discourse of deafness as abnormal and the rhetorical strategies mobilized in people’s accounts: fitting in, acceptance as permission to be different, and the need to prove normality. Using these strategies was productive in that the forum respondents were enabled to reposition deafness as a positive, socially valued identity position. However, the need to manage deafness was reproduced as an individual concern, disallowing any exploration of how deafness could be reconstructed as socially valued. The article concludes with a discussion of the implications of the deafness as abnormal discourse.

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Understanding perception of wellness in older adults is a question to be understood against the backdrop of concerns about whether global ageing and the ‘bulge’ of ageing baby boomers will increase health care cost beyond what modern economies can deal with. Older adults who age in a healthy way and who take responsibility for their own health offer a positive alternative and change the perception that older adults are a burden on their society’s health system. The concept of successful ageing introduced by Rowe and Kahn (1987; 1997) suggested that older adults age successfully if they avoid disease and disability, maintain high cognitive and physical functioning and remain actively engaged with life. This concept, however, did not reflect older adults’ own perceptions of what constitutes successful ageing or how perceptions of wellness or health-related quality of life influenced the older adult’s understanding of his or her own health and ageing. A research project was designed to examine older adults’ perceptions of wellness in order to gain an understanding of the factors that influence perception of their own wellness. Specifically, the research wanted to explore two aspects: whether belonging to a unique organisation, in this instance a Returned Services Club, influenced perceptions of wellness; and whether there are significant gender differences for the perception of wellness. A mixed method project with two consecutive studies was designed to answer these questions: a quantitative survey of members of a Returned Services Club and of the surrounding community in Queensland, Australia, and a qualitative study conducting focus groups to explore findings of the survey. The results of the survey were used to determine the composition of the focus groups. The participants for the first study, (N=257), community living adults 65 years and older, were chosen from the membership role of a Returned Services Club or recruited by personal approach from the community surrounding the Services Club. Participants completed a survey that consisted of a perception of wellness instrument, a health-related quality of life instrument, and questions on morbidities, modifiable life style factors and demographics. Data analysis found that a number of individual factors influenced perception of wellness and health-related quality of life. Positive influences were independent mobility, exercise and gambling at non-hazardous levels, and negative influences were hearing loss, memory problems, chronic disease and being single. Membership of the Services Club did not contribute to perception of wellness beyond being a member of a social group. While there may have been an expectation that members of an organisation that is traditionally associated with high alcohol use and problematic gambling may have lower perceptions of wellness, this study suggested that the negative influences may have been counteracted by the positive effects of social interaction, thus having neither negative nor positive influences on perception of wellness. There were significant differences in perception of wellness and in health-related quality of life for women and men. The most significant difference was for women aged 85-90 who had significantly lower scores for perception of wellness than men or than any other age group. This result was the impetus for conducting focus groups with adults aged 85-90 years of age. Focus groups were conducted with 24 women and four men aged 85-90 to explore the survey findings for this age group. Results from the focus groups indicated that for older adults perception of wellness was a multidimensional construct of more complexity than indicated by the survey instrument. Elite older women (women over 85 years of age) related their perception of wellness to their ability to do what they wanted to do, and what they wanted to do significantly more than anything else, was to stay connected to family, friends and the community to which they belonged. From the focus group results it appeared that elite older women identified with the three elements of successful ageing – low incidence of disability and disease, high physical and cognitive functioning, and active engagement with life – but not in a flat structure. It appears that for elite older women good physical and mental health function to enable social connectedness. It is the elements of health that impact on the ability to do what they wanted to do that were identified as key factors: independent mobility, hearing and memory - factors that impact on the ability to interact socially. These elements were only identified when they impacted on the person’s ability to do what they wanted to do, for example mobility problems that were managed were not considered a problem. The study also revealed that older women use selection, optimisation and compensation to meet their goal of staying socially connected. The shopping centre was a key factor in this goal and older women used shopping centres to stay connected to the community and for exercise as well as shopping. Personal and public safety and other environmental concerns were viewed in the same context of enabling or disabling social connectedness. This suggested that for elite older women the model of successful ageing was hierarchical rather than flat, with social connectedness at the top, supported by cognitive functioning and good physical and mental health. In conclusion, this research revealed that perception of wellness in older adults is a complex, multidimensional construct. For older adults good health is related to social connectedness and is not a goal in itself. Health professionals and the community at large have a responsibility to take into account the ability of the older adult to stay socially connected to their community and to enable this, if the goal is to keep older adults healthy for as long as possible. Maintaining or improving perception of wellness in older adults will require a broad biopsychosocial approach that utilises findings such as older adults’ use of shopping centres for non-shopping purposes, concerns about personal and environmental safety and supporting older adults to maintain or improve their social connectedness to their communities.

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The Queensland Coal Industry Employees Health Scheme was implemented in 1993 to provide health surveillance for all Queensland coal industry workers. Tt1e government, mining employers and mining unions agreed that the scheme should operate for seven years. At the expiry of the scheme, an assessment of the contribution of health surveillance to meet coal industry needs would be an essential part of determining a future health surveillance program. This research project has analysed the data made available between 1993 and 1998. All current coal industry employees have had at least one health assessment. The project examined how the centralised nature of the Health Scheme benefits industry by identi~)jng key health issues and exploring their dimensions on a scale not possible by corporate based health surveillance programs. There is a body of evidence that indicates that health awareness - on the scale of the individual, the work group and the industry is not a part of the mining industry culture. There is also growing evidence that there is a need for this culture to change and that some change is in progress. One element of this changing culture is a growth in the interest by the individual and the community in information on health status and benchmarks that are reasonably attainable. This interest opens the way for health education which contains personal, community and occupational elements. An important element of such education is the data on mine site health status. This project examined the role of health surveillance in the coal mining industry as a tool for generating the necessary information to promote an interest in health awareness. The Health Scheme Database provides the material for the bulk of the analysis of this project. After a preliminary scan of the data set, more detailed analysis was undertaken on key health and related safety issues that include respiratory disorders, hearing loss and high blood pressure. The data set facilitates control for confounding factors such as age and smoking status. Mines can be benchmarked to identify those mines with effective health management and those with particular challenges. While the study has confirmed the very low prevalence of restrictive airway disease such as pneu"moconiosis, it has demonstrated a need to examine in detail the emergence of obstructive airway disease such as bronchitis and emphysema which may be a consequence of the increasing use of high dust longwall technology. The power of the Health Database's electronic data management is demonstrated by linking the health data to other data sets such as injury data that is collected by the Department of l\1mes and Energy. The analysis examines serious strain -sprain injuries and has identified a marked difference between the underground and open cut sectors of the industry. The analysis also considers productivity and OHS data to examine the extent to which there is correlation between any pairs ofJpese and previously analysed health parameters. This project has demonstrated that the current structure of the Coal Industry Employees Health Scheme has largely delivered to mines and effective health screening process. At the same time, the centralised nature of data collection and analysis has provided to the mines, the unions and the government substantial statistical cross-sectional data upon which strategies to more effectively manage health and relates safety issues can be based.

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Cisplatin and carboplatin are active in previously untreated patients with metastatic breast cancer (MBC) with mean response rates (RRs) of 50 and 32%, respectively. In pretreated patients the RR to cisplatin/carboplatin monotherapy declines markedly to <10%. Cisplatin and carboplatin have been combined with many other cytotoxics. In first-line setting high activity has been observed in combination with taxanes or vinorelbine (RRs consistently ∼60%). It appears that these newer combinations are superior to older regimens with etoposide (RRs 30 to 50%) or 5-fluorouracil (RRs 40 to 60%). Cisplatin-/carboplatin-based regimens with infusional 5-FU and epirubicin/paclitaxel/vinorelbine achieve high RRs of around 60 to 80%. However these regimens are difficult to administer in all patients because they require central venous access for continuous 5-FU infusion. In pretreated MBC the combinations of cisplatin-taxane/vinorelbine/gemcitabine or carboplatin-docetaxel/vinorelbine yield RRs of 40 to 50%, which are higher than those achieved with platinum-etoposide/5-FU. In locally advanced disease cisplatin-based regimens achieve very high RRs (>80%). This would suggest that in chemotherapy-naïve patients platinum-based therapy might have an important role to play. Additionally the synergy demonstrated between platinum compounds, taxanes and herceptin, in preclinical and clinical studies is of immense importance and the results of the two ongoing Breast Cancer International Research Group randomized phase III studies are eagerly awaited. These studies may help clarify the role of platinum compounds in the treatment of metastatic and possibly early breast cancer. © 2003 Elsevier Ltd. All rights reserved.

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Aims: After failure of anthracycline- and taxane-based chemotherapy in metastatic breast cancer, treatment options until recently were limited. Until the introduction of capecitabine and vinorelbine, no standard regimen was available. We conducted a retrospective study to determine the efficacy and toxicity of platinum-based chemotherapy in metastatic breast cancer. Materials and methods: Forty-two women with metastatic breast cancer previously treated with anthracyclines (93%) and/or taxanes (36%) received mitomycin-vinblastine-cisplatin (MVP) (n = 23), or cisplatin-etoposide (PE) (n = 19), as first-, second- and third-line treatment at a tertiary referral centre between 1997 and 2002. Chemotherapy was given every 3 weeks as follows: mitomycin-C (8 mg/m 2) (cycles 1, 2, 4, 6), vinblastine (6 mg/m 2), and cisplatin (50 mg/m 2) all on day 1; and cisplatin (75 mg/m 2) and etoposide (100 mg/m 2) on day 1 and (100 mg/m 2) orally twice a day on days 2-3. Results: The response rate for 40 evaluable patients (MVP: n = 23; PE: n = 17) was 18% (95% confidence interval [CI]: 9-32%). The response rate to MVP was 13% (95% CI: 5-32%, one complete and two partial responses) and to PE 24% (10-47%, four partial responses). Disease stabilised in 43% (26-63%) and 47% (26-69%) of women treated with MVP and PE, respectively. After a median follow-up of 18 months, 37 women (MVP: n = 19; PE: n = 18) died from their disease. Median (range) progression-free survival and overall survival were 6 months (0.4-18.7) and 9.9 months (1.3-40.8), respectively. Median progression-free survival for the MVP and PE groups was 5.5 and 6.2 months (Log-rank, P = 0.82), and median overall survival was 10.2 and 9.4 months (Log-rank, P = 0.46), respectively. The main toxicity was myelosuppression. Grades 3-4 neutropenia was more common in women treated with PE than in women treated with MVP (74% vs 30%; P = 0.012), but the incidence of neutropenic sepsis, relative to the number of chemotherapy cycles, was low (7% overall). The toxicity-related hospitalisation rate was 1.2 admissions per six cycles of chemotherapy. No treatment-related deaths occurred. MVP and PE chemotherapy have modest activity and are safe in women with metastatic breast cancer. © 2005 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

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Scrub typhus is a vector-borne disease carried by the chigger mite. The aetiological agent is the rickettsia Orientia tsutsugamushi, which is endemic to several countries in the Asia-Pacific region, including China [1]. It is also a travel-associated disease [2] and of great importance among military personnel [3], [4]. During the Second World War, scrub typhus was associated with a higher case fatality ratio than any other infectious disease in the China-Burma-India theatre of operations 1,3. Clinical presentation in patients varies from asymptomatic to life-threatening disease [5], including acute hearing loss and multiple organ failure [6], [7]. To date, there is still no effective and reliable human vaccine against scrub typhus and no point-of-care diagnostics available [1].

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Otitis media (OM) (a middle ear infection) is a common childhood illness that can leave some children with permanent hearing loss. OM can arise following infection with a variety of different pathogens, including a coinfection with influenza A virus (IAV) and Streptococcus pneumoniae (the pneumococcus). We and others have demonstrated that coinfection with IAV facilitates the replication of pneumococci in the middle ear. Specifically, we used a mouse model of OM to show that IAV facilitates the outgrowth of S. pneumoniae in the middle ear by inducing middle ear inflammation. Here, we seek to understand how the host inflammatory response facilitates bacterial outgrowth in the middle ear. Using B cell-deficient infant mice, we show that antibodies play a crucial role in facilitating pneumococcal replication. We subsequently show that this is due to antibody-dependent neutrophil extracellular trap (NET) formation in the middle ear, which, instead of clearing the infection, allows the bacteria to replicate. We further demonstrate the importance of these NETs as a potential therapeutic target through the transtympanic administration of a DNase, which effectively reduces the bacterial load in the middle ear. Taken together, these data provide novel insight into how pneumococci are able to replicate in the middle ear cavity and induce disease.

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BACKGROUND: About 1-5% of cancer patients suffer from significant normal tissue reactions as a result of radiotherapy (RT). It is not possible at this time to predict how most patients' normal tissues will respond to RT. DNA repair dysfunction is implicated in sensitivity to RT particularly in genes that mediate the repair of DNA double-strand breaks (DSBs). Phosphorylation of histone H2AX (phosphorylated molecules are known as gammaH2AX) occurs rapidly in response to DNA DSBs, and, among its other roles, contributes to repair protein recruitment to these damaged sites. Mammalian cell lines have also been crucial in facilitating the successful cloning of many DNA DSB repair genes; yet, very few mutant cell lines exist for non-syndromic clinical radiosensitivity (RS). METHODS: Here, we survey DNA DSB induction and repair in whole cells from RS patients, as revealed by gammaH2AX foci assays, as potential predictive markers of clinical radiation response. RESULTS: With one exception, both DNA focus induction and repair in cell lines from RS patients were comparable with controls. Using gammaH2AX foci assays, we identified a RS cancer patient cell line with a novel ionising radiation-induced DNA DSB repair defect; these data were confirmed by an independent DNA DSB repair assay. CONCLUSION: gammaH2AX focus measurement has limited scope as a pre-RT predictive assay in lymphoblast cell lines from RT patients; however, the assay can successfully identify novel DNA DSB repair-defective patient cell lines, thus potentially facilitating the discovery of novel constitutional contributions to clinical RS.

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Training for bodybuilding competition is clearly a serious business that inflicts serious demands on the competitor. Not only did Francis commit time and money to compete, but he also arguably put winning before his physical well-being—enduring pain and suffering from his injury. Bodybuilding may seem like an extreme example, but it is not the only activity in which people suffer in pursuit of their goals. Boxers fight each other in the ring; soccer players risk knee and ankle injuries, sometimes playing despite being hurt; and mountaineers risk their lives in dangerous climbs. In the arts there are many examples of people suffering to achieve their goals: Beethoven kept composing, conducting, and performing despite his hearing loss; van Gogh grappled with depression but kept painting, finding fame only posthumously; and Mozart lived the final years of his life impoverished but still composing. These examples show that many great achievements come at a price: severe suffering...

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We employed a Hidden-Markov-Model (HMM) algorithm in loss of heterozygosity (LOH) analysis of high-density single nucleotide polymorphism (SNP) array data from Non-Hodgkin’s lymphoma (NHL) entities, follicular lymphoma (FL), and diffuse large B-cell lymphoma (DLBCL). This revealed a high frequency of LOH over the chromosomal region 11p11.2, containing the gene encoding the protein tyrosine phosphatase receptor type J (PTPRJ). Although PTPRJ regulates components of key survival pathways in B-cells (i.e., BCR, MAPK, and PI3K signaling), its role in B-cell development is poorly understood. LOH of PTPRJ has been described in several types of cancer but not in any hematological malignancy. Interestingly, FL cases with LOH exhibited down-regulation of PTPRJ, in contrast no significant variation of expression was shown in DLBCLs. In addition, sequence screening in Exons 5 and 13 of PTPRJ identified the G973A (rs2270993), T1054C (rs2270992), A1182C (rs1566734), and G2971C (rs4752904) coding SNPs (cSNPs). The A1182 allele was significantly more frequent in FLs and in NHLs with LOH. Significant over-representation of the C1054 (rs2270992) and the C2971 (rs4752904) alleles were also observed in LOH cases. A haplotype analysis also revealed a significant lower frequency of haplotype GTCG in NHL cases, but it was only detected in cases with retention. Conversely, haplotype GCAC was over-representated in cases with LOH. Altogether, these results indicate that the inactivation of PTPRJ may be a common lymphomagenic mechanism in these NHL subtypes and that haplotypes in PTPRJ gene may play a role in susceptibility to NHL, by affecting activation of PTPRJ in these B-cell lymphomas.

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Background The analysis of cellular networks and pathways involved in oncogenesis has increased our knowledge about the pathogenic mechanisms that underlie tumour biology and has unmasked new molecular targets that may lead to the design of better anti-cancer therapies. Recently, using a high resolution loss of heterozygosity (LOH) analysis, we identified a number of potential tumour suppressor genes (TSGs) within common LOH regions across cases suffering from two of the most common forms of Non-Hodgkin’s lymphoma (NHL), Follicular Lymphoma (FL) and Diffuse Large B-cell Lymphoma (DLBCL). From these studies LOH of the protein tyrosine phosphatase receptor type J (PTPRJ) gene was identified as a common event in the lymphomagenesis of these B-cell lymphomas. The present study aimed to determine the cellular pathways affected by the inactivation of these TSGs including PTPRJ in FL and DLBCL tumourigenesis. Results Pathway analytical approaches identified that candidate TSGs located within common LOH regions participate within cellular pathways, which may play a crucial role in FL and DLBCL lymphomagenesis (i.e., metabolic pathways). These analyses also identified genes within the interactome of PTPRJ (i.e. PTPN11 and B2M) that when inactivated in NHL may play an important role in tumourigenesis. We also detected genes that are differentially expressed in cases with and without LOH of PTPRJ, such as NFATC3 (nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3). Moreover, upregulation of the VEGF, MAPK and ERBB signalling pathways was also observed in NHL cases with LOH of PTPRJ, indicating that LOH-driving events causing inactivation of PTPRJ, apart from possibly inducing a constitutive activation of these pathways by reduction or abrogation of its dephosphorylation activity, may also induce upregulation of these pathways when inactivated. This finding implicates these pathways in the lymphomagenesis and progression of FL and DLBCL. Conclusions The evidence obtained in this research supports findings suggesting that FL and DLBCL share common pathogenic mechanisms. Also, it indicates that PTPRJ can play a crucial role in the pathogenesis of these B-cell tumours and suggests that activation of PTPRJ might be an interesting novel chemotherapeutic target for the treatment of these B-cell tumours.