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1.
Optom Vis Sci ; 96(5): 345-353, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31046017

RESUMO

SIGNIFICANCE: The successful uptake, integration, and use of vision rehabilitation devices with speech output depend to a large part on their audibility. However, individuals with combined vision and hearing impairments are at a disadvantage when using devices that do not consider multiple impairments. PURPOSE: Sensory rehabilitation for individuals with combined vision and hearing impairment often relies on the use of assistive technology devices that use speech outputs (e.g., talking clock), but in individuals with dual impairment, their use is likely compromised by a concurrent hearing loss. The goal of this study was to evaluate the audibility of these devices in a population of individuals with acquired dual sensory impairment. METHODS: We measured the ability to correctly repeat speech output presented by three assistive technology devices (talking watch, calculator, scanner) and confidence levels in response accuracy in 24 participants with visual impairment only and in 22 individuals with dual sensory loss. Stimuli were presented at three volumes that were repeated one or four times. Participants were placed at a fixed distance of 74 cm from the sound source. RESULTS: The pattern of results was similar across the different devices, whereby an interaction of volume and repetition indicated that participants' accuracy to repeat a phrase and their confidence in their response improved with increasing volume, but more so at higher numbers of repetition (P < .05; ω, from 0.005 to 0.298). Participants with dual sensory loss generally had lower accuracy and confidence. CONCLUSIONS: Scores and confidence levels being very low across devices and users suggest that even participants with normal hearing for their age experienced a certain level of difficulty understanding speech output, confirming the need for better assistive technology device design.


Assuntos
Recursos Audiovisuais , Percepção Auditiva/fisiologia , Auxiliares de Audição , Perda Auditiva Neurossensorial/reabilitação , Pessoas com Deficiência Auditiva/reabilitação , Baixa Visão/reabilitação , Pessoas com Deficiência Visual/reabilitação , Idoso , Idoso de 80 Anos ou mais , Correção de Deficiência Auditiva/instrumentação , Feminino , Audição/fisiologia , Perda Auditiva Neurossensorial/fisiopatologia , Testes Auditivos , Humanos , Masculino , Tecnologia Assistiva , Baixa Visão/fisiopatologia
2.
Optom Vis Sci ; 95(9): 852-858, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30153238

RESUMO

SIGNIFICANCE: Systematic lighting assessments should be part of low vision evaluations. The LuxIQ has gained popularity as an assessment tool, but its reliability has not been examined independently and is necessary for evidence-based vision rehabilitation. PURPOSE: Besides magnification, improved lighting levels are a common intervention in reading rehabilitation for individuals with low vision. Determining the appropriate lighting can be a complex and time-consuming task. The LuxIQ is a portable lighting assessment tool that can be used to systematically measure lighting preferences; however, there is little independent evidence to support its reliability in low vision rehabilitation. METHODS: One hundred nine control subjects (age, 18 to 85 years) and 64 individuals with low vision (age, 27 to 99 years) adjusted both the luminance and color temperature parameters on the LuxIQ while viewing a sentence on the MNREAD at their preferred print size for continuous reading. After 30 minutes, they were asked to repeat the same measurements. RESULTS: Using Bland-Altman plots, test-retest variability was calculated using the limits of agreement (LOAs). For illuminance, the LOA width was 2806 lux for control subjects and 2657 lux for visually impaired participants. For color temperature, the LOA width was 2807 K for control subjects and 2364 K for those with a visual impairment. Difference scores were centered near zero, indicating overall accuracy. CONCLUSIONS: The measurement of lighting preference lacks the precision necessary for clinical utility, given that the LOA for luminance ranged more than 2600 lux, with normally sighted and low vision participants. Such variability translates into a range of approximately ±40 or 50 W in an incandescent light bulb, depending on the luminance level, making it clinically difficult to narrow down the options for evidence-based lighting recommendations. Next steps are to examine whether the reading behavior of low vision clients is positively affected by interventions that are based on LuxIQ recommendations.


Assuntos
Iluminação , Testes Visuais/normas , Baixa Visão/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Leitura , Reprodutibilidade dos Testes , Baixa Visão/reabilitação , Pessoas com Deficiência Visual/reabilitação , Adulto Jovem
3.
Optom Vis Sci ; 95(9): 704-710, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30153239

RESUMO

SIGNIFICANCE: There are no data available comparing the iPad as a portable magnification device with a portable video magnifier. Our study supports the use and integration of mainstream tablet computers into vision rehabilitation to overcome potential barriers to device uptake due to the stigma attached to traditional devices. PURPOSE: Portable personal tablet computers have taken on an important role as assistive devices for individuals with visual impairment; however, their use is rarely supported by independent data. Our study aims to contribute to evidence-based practice by comparing a tablet computer with a portable video magnifier in their use as spot-reading devices. METHODS: We compared the Optelec Compact 5 HD portable video magnifier (Optelec, Longueuil, Canada) and the Apple iPad Air tablet computer (Apple Inc, Cupertino, CA) using the SuperVision+ Magnifier app by asking 60 adults with low vision (age range, 19 to 97 years; mean visual acuity, 20/136) to spot read information on a bill, a medication box, and a food label. Their ability to complete each task was timed; they completed the Quebec User Evaluation of Satisfaction with assistive Technology questionnaire and indicated their preferred device. RESULTS: Performance speed indicated that easier tasks were completed faster; however, there were no statistically significant differences in performance between the two device conditions. The highest satisfaction scores for both devices were identical: dimensions, ease of use, and effectiveness. Preference between the two devices was split at 25 for iPad, 33 for the portable closed-circuit television, and 2 for undecided. CONCLUSIONS: The results indicate that performance speed on our spot-reading tasks was comparable across the two devices. In addition, subjective judgment of the device features and personal preferences lead us to conclude that both the iPad and the portable magnifier may have certain equivalence in their functionality, depending on the user and the task for which they are used.


Assuntos
Computadores de Mão , Leitura , Tecnologia Assistiva , Auxiliares Sensoriais , Baixa Visão/reabilitação , Idoso , Idoso de 80 Anos ou mais , Canadá , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Baixa Visão/fisiopatologia , Acuidade Visual/fisiologia
4.
Can J Occup Ther ; 82(5): 283-93, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26590228

RESUMO

BACKGROUND: The goal of occupational therapy education is to train generalists who can refine their knowledge after graduation according to the requirements of the professional environment. However, it is currently unclear to what extent sensory screening should be included in the educational curricula. PURPOSE: The purpose of this study was to examine the sensory screening education for and practice by occupational therapists working with older adults. METHOD: A cross-sectional survey was used to collect data from members of the Quebec Order of Occupational Therapists. Descriptive statistics were used in the analysis. FINDINGS: Data from 102 respondents indicated that training on sensory impairment-related topics was minimal and in stark contrast to the proportion who reported serving clients with a visual (92%), hearing (84%), or combined impairment (53%). IMPLICATIONS: Occupational therapy considers numerous aspects of physical, cognitive, and emotional well-being. The question remains as to what extent vision and hearing health should take their place among these priorities.


Assuntos
Competência Clínica , Terapia Ocupacional/educação , Transtornos de Sensação/diagnóstico , Transtornos de Sensação/reabilitação , Adulto , Estudos Transversais , Currículo , Feminino , Humanos , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Quebeque , Inquéritos e Questionários
5.
Hum Mutat ; 30(8): E797-812, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19459153

RESUMO

Lynch syndrome is one of the most common autosomal dominantly inherited cancer syndromes. Mutations in MLH1, MSH2, MSH6, and PMS2 account for greater than 98% of reported mutations in Lynch syndrome families. It has been reported that large genomic deletions in MLH1 and MSH2 are a frequent cause of Lynch syndrome in certain populations. Using a multimodal approach, we have identified mutations in MLH1, MSH2, and MSH6 in French Canadian families fulfilling the Amsterdam criteria for Lynch syndrome and who displayed abnormal staining for at least one of the Lynch syndrome proteins. Mutations were identified in 28 of our 29 French Canadian probands (97%). A total of 18 distinct mutations (nine in MLH1, seven in MSH2, two in MSH6) were identified, of which six (33%) were genomic exon deletions. Another four (22%) resulted in exon deletions in cDNA alone. Three (17%) are novel mutations. Five of these 18 mutations were detected in more than one distinct family (four in MLH1, one in MSH2) and haplotype analysis suggests the possibility of founder effects. Fifteen of the 29 (52%) families carried one of these five putative founder mutations. These findings may simplify genetic testing for Lynch syndrome in French Canadians.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Éxons , Efeito Fundador , Sequência de Bases , Southern Blotting , Primers do DNA , DNA Complementar , Haplótipos , Humanos , Imuno-Histoquímica , Quebeque
6.
BMJ Open ; 9(9): e027803, 2019 09 08.
Artigo em Inglês | MEDLINE | ID: mdl-31501102

RESUMO

OBJECTIVE: Based on two scoping reviews and two environmental scans, this study aimed at reaching consensus on the most suitable sensory screening tools for use by nurses working in long-term care homes, for the purpose of developing and validating a toolkit. SETTING: A mixed-methods consensus study was conducted through two rounds of virtual electronic suitability rankings, followed by one online discussion group to resolve remaining disagreements. PARTICIPANTS: A 12-member convenience panel of specialists from three countries with expertise in sensory and cognitive ageing provided the ranking data, of whom four participated in the online discussion. OUTCOME MEASURES: As part of a larger mixed-methods project, the consensus was used to rank 22 vision and 20 hearing screening tests for suitability, based on 10 categories from the Quebec User Evaluation of Satisfaction with Assistive Technology questionnaire. Panellists were asked to score each test by category, and their responses were converted to z-scores, pooled and ranked. Outliers in assessment distribution were then returned to the individual team members to adjust scoring towards consensus. RESULTS: In order of ranking, the top 4 vision screening tests were hand motion, counting fingers, confrontation visual fields and the HOT-V chart, whereas the top 4 hearing screening tests were the Hearing Handicap Inventory for the Elderly, the Whisper Test, the Measure of Severity of Hearing Loss and the Hyperacusis Questionnaire, respectively. CONCLUSIONS: The final selection of vision screening tests relied on observable visual behaviours, such as visibility of tasks within the central or peripheral visual field, whereas three of the four hearing tests relied on subjective report. Next, feasibility will be tested by nurses using these tools in a long-term care setting with persons with various levels of cognitive impairment.


Assuntos
Envelhecimento Cognitivo/fisiologia , Disfunção Cognitiva/enfermagem , Testes Auditivos/instrumentação , Testes Visuais/instrumentação , Idoso , Consenso , Feminino , Testes Auditivos/enfermagem , Humanos , Assistência de Longa Duração/métodos , Masculino , Pesquisa Qualitativa , Testes Visuais/enfermagem
7.
BMJ Open ; 8(1): e019451, 2018 01 26.
Artigo em Inglês | MEDLINE | ID: mdl-29374673

RESUMO

OBJECTIVES: This study aimed to identify screening tools, technologies and strategies that vision and hearing care specialists recommend to front-line healthcare professionals for the screening of older adults in long-term care homes who have dementia. SETTING: An environmental scan of healthcare professionals took place via telephone interviews between December 2015 and March 2016. All interviews were audio recorded, transcribed, proofed for accuracy, and their contents thematically analysed by two members of the research team. PARTICIPANTS: A convenience sample of 11 professionals from across Canada specialising in the fields of vision and hearing healthcare and technology for older adults with cognitive impairment were included in the study. OUTCOME MEASURES: As part of a larger mixed-methods project, this qualitative study used semistructured interviews and their subsequent content analysis. RESULTS: Following a two-step content analysis of interview data, coded citations were grouped into three main categories: (1) barriers, (2) facilitators and (3) tools and strategies that do or do not work for sensory screening of older adults with dementia. We report on the information offered by participants within each of these themes, along with a summary of tools and strategies that work for screening older adults with dementia. CONCLUSIONS: Recommendations from sensory specialists to nurses working in long-term care included the need for improved interprofessional communication and collaboration, as well as flexibility, additional time and strategic use of clinical intuition and ingenuity. These suggestions at times contradicted the realities of service provision or the need for standardised and validated measures.


Assuntos
Demência/complicações , Transtornos de Sensação/diagnóstico , Idoso , Canadá , Feminino , Pessoal de Saúde , Humanos , Entrevistas como Assunto , Assistência de Longa Duração , Masculino , Programas de Rastreamento , Pesquisa Qualitativa
8.
BMJ Open ; 6(7): e011945, 2016 07 26.
Artigo em Inglês | MEDLINE | ID: mdl-27466242

RESUMO

INTRODUCTION: Hearing and vision loss among long-term care (LTC) residents with dementia frequently goes unnoticed and untreated. Despite negative consequences for these residents, there is little information available about their sensory abilities and care assessments and practices seldom take these abilities or accessibility needs into account. Without adequate knowledge regarding such sensory loss, it is difficult for LTC staff to determine the level of an individual's residual basic competence for communication and independent functioning. We will conduct a scoping review to identify the screening measures used in research and clinical contexts that test hearing and vision in adults aged over 65 years with dementia, aiming to: (1) provide an overview of hearing and vision screening in older adults with dementia; and (2) evaluate the sensibility of the screening tools. METHODS AND ANALYSIS: This scoping review will be conducted using the framework by Arksey and O'Malley and furthered by methodological enhancements from cited researchers. We will conduct electronic database searches in CENTRAL, CINAHL, EMBASE, MEDLINE and PsycINFO. We will also carry out a 'grey literature' search for studies or materials not formally published, both online and through interview discussions with healthcare professionals and research clinicians working in the field. Our aim is to find new and existing hearing and vision screening measures used in research and by clinical professionals of optometry and audiology. Abstracts will be independently reviewed twice for acceptance by a multidisciplinary team of researchers and research clinicians. ETHICS AND DISSEMINATION: This review will inform health professionals working with this growing population. With the review findings, we aim to develop a toolkit and an algorithmic process to select the most appropriate hearing and vision screening assessments for LTC residents with dementia that will facilitate accurate testing and can inform care planning, thereby improving residents' quality of life.


Assuntos
Demência/complicações , Avaliação da Deficiência , Avaliação Geriátrica/métodos , Perda Auditiva/diagnóstico , Assistência de Longa Duração , Programas de Rastreamento , Baixa Visão/diagnóstico , Idoso , Audição , Humanos , Projetos de Pesquisa , Visão Ocular
9.
J Invest Dermatol ; 132(5): 1462-70, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22318386

RESUMO

Activated leukocyte cell adhesion molecule (ALCAM/CD166) is a progression marker of a variety of cancers, including melanoma, and is a marker for mesenchymal stem cells. ALCAM expression triggers matrix metalloproteinase activity and correlates with the transition between superficial melanoma growth and deep dermal invasion in vivo. We previously showed that manipulating ALCAM functionality could both decrease and increase melanoma invasion, depending on the manner by which ALCAM function was altered. How ALCAM exerts these opposing invasive phenotypes remained elusive. In the present study, we analyzed differences in melanoma cell gene expression in two- and three-dimensional cultures as function of ALCAM-mediated adhesion. We identified a cluster of genes highly responsive to ALCAM functionality and relevant for melanoma invasion. This cluster is characterized by known invasion-related genes similar to L1 neuronal cell adhesion molecule and showed a remarkable induction of several innate immune genes. Unexpectedly, we identified major variations in the expression of genes related to an immunological response when modulating ALCAM function, including complement factors C1r and C1s. The expression and function of these proteinases were confirmed in protein assays and in vivo. Together, our results demonstrate a link between ALCAM functionality and the immune transcriptome, and support the assumption that ALCAM-ALCAM interactions could function as a cell signaling complex to promote melanoma tumor invasion.


Assuntos
Molécula de Adesão de Leucócito Ativado/metabolismo , Imunidade Inata/genética , Melanoma/genética , Invasividade Neoplásica/genética , Metástase Neoplásica/genética , Neoplasias Cutâneas/genética , Molécula de Adesão de Leucócito Ativado/genética , Adesão Celular , Contagem de Células , Complemento C1r/metabolismo , Complemento C1s/metabolismo , Perfilação da Expressão Gênica , Humanos , Melanoma/imunologia , Melanoma/metabolismo , Análise em Microsséries , Fenótipo , RNA Mensageiro/metabolismo , Neoplasias Cutâneas/imunologia , Neoplasias Cutâneas/metabolismo , Células Tumorais Cultivadas , Regulação para Cima
10.
Fam Cancer ; 10(4): 659-65, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21779980

RESUMO

This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 families affected with familial adenomatous polyposis. Of these unique mutations, 60% are short indels, 28% are point mutations, and 6% are whole exon deletions. The absence of founder mutations and the variety of mutations encountered reinforce the value of RNA-based testing and the need for gene dosage techniques such as multiplex ligation-dependent probe amplification.


Assuntos
Polipose Adenomatosa do Colo/genética , Análise Mutacional de DNA , Genes APC , Mutação em Linhagem Germinativa , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Éxons , Feminino , Testes Genéticos/métodos , Humanos , Lactente , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutagênese Insercional , Mutação Puntual , Quebeque , Análise de Sequência de DNA , Deleção de Sequência
11.
Cancer ; 107(12): 2858-65, 2006 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-17096434

RESUMO

BACKGROUND: Somatic mutations of the epidermal growth factor receptor (EGFR) gene in nonsmall-cell lung cancer (NSCLC) may predict responsiveness to tyrosine kinase inhibitors. These mutations are commonly identified using DNA sequencing methods. Although considered the gold standard, this approach is time-consuming. In addition, this approach requires large diagnostic specimens and a high ratio of tumor-to-normal-tissue DNA for optimal results. The use of denaturing high-performance liquid chromatography (dHPLC) as a method to screen for the 2 predominant EGFR mutations is reported. METHODS: Clinical specimens from 104 NSCLC patients were analyzed for EGFR mutations in exons 19 and 21. After DNA extraction and polymerase chain reaction (PCR), both direct sequencing and dHPLC were performed and the results were compared. RESULTS: Sequencing revealed a total of 7 mutations: 3 deletion mutations in exon 19 and 4 missense mutations in exon 21. dHPLC showed the presence of genomic alterations in 23 samples, including the 7 identified by sequencing plus 16 additional samples (10 in exon 19 and 1 in exon 21). dHPLC fractions were isolated, reamplified, and sequenced to confirm the results. In serial dilution studies, dHPLC was able to detect mutations in samples containing as little as 1.6% to 6.25% mutated DNA, whereas direct sequencing required at least 30%. CONCLUSIONS: dHPLC is an efficient and more sensitive method for screening for genomic alterations in exons 19 and 21 of the EGFR gene compared with direct sequence analysis. These data suggest that dHPLC should be implemented as a screening tool for detection of EGFR mutations.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/genética , Cromatografia Líquida de Alta Pressão/métodos , Análise Mutacional de DNA/métodos , Receptores ErbB/genética , Neoplasias Pulmonares/genética , Arginina/química , Arginina/genética , Humanos , Leucina/química , Leucina/genética , Mutação , Desnaturação de Ácido Nucleico , Sensibilidade e Especificidade
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