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The Hearing Loss Association of America (HLAA) announced the launch of the 2018 Walk4Hearing program, with events scheduled in 18 cities across the country this spring and fall to raise awareness of hearing loss and the importance of good hearing health.
The Hearing Loss Association of America (HLAA) announced the launch of the 2018 Walk4Hearing program, with events scheduled in 18 cities across the country this spring and fall to raise awareness of hearing loss and the importance of good hearing health.
The Hearing Loss Association of America (HLAA) announced the launch of the 2018 Walk4Hearing program, with events scheduled in 18 cities across the country this spring and fall to raise awareness of hearing loss and the importance of good hearing health.Related Articles |
CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.
Ophthalmic Genet. 2018 May 02;:1-8
Authors: Kubota D, Gocho K, Kikuchi S, Akeo K, Miura M, Yamaki K, Takahashi H, Kameya S
Abstract
BACKGROUND: CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins. Mutations of CEP250 cause atypical Usher syndrome which is characterized by early-onset sensorineural hearing loss (SNHL) and a relatively mild retinitis pigmentosa. This study tested the hypothesis that the mild cone-rod dystrophy (CRD) and SNHL in a non-consanguineous Japanese family was caused by CEP250 mutations.
METHODS: Detailed ophthalmic and auditory examinations were performed on the proband and her family members. Whole exome sequencing (WES) was used on the DNA obtained from the proband.
RESULTS: Electrophysiological analysis revealed a mild CRD in two family members. Adaptive optics (AO) imaging showed reduced cone density around the fovea. Auditory examinations showed a slight SNHL in both patients. WES of the proband identified compound heterozygous variants c.361C>T, p.R121*, and c.562C>T, p.R188* in CEP250. The variants were found to co-segregate with the disease in five members of the family.
CONCLUSIONS: The variants of CEP250 are both null variants and according to American College of Medical Genetics and Genomics (ACMG) standards and guideline, these variants are classified into the very strong category (PVS1). The criteria for both alleles will be pathogenic. Our data indicate that mutations of CEP250 can cause mild CRD and SNHL in Japanese patients. Because the ophthalmological phenotypes were very mild, high-resolution retinal imaging analysis, such as AO, will be helpful in diagnosing CEP250-associated disease.
PMID: 29718797 [PubMed - as supplied by publisher]
Related Articles |
The clinical characteristics of patients with mitochondrial tRNA Leu(UUR)m.3243A > G mutation: Compared with type 1 diabetes and early onset type 2 diabetes.
J Diabetes Complications. 2017 Aug;31(8):1354-1359
Authors: Zhu J, Yang P, Liu X, Yan L, Rampersad S, Li F, Li H, Sheng C, Cheng X, Zhang M, Qu S
Abstract
OBJECTIVE: This study presents nine patients with mitochondrial tRNA Leu (UUR) m.3243A>G mutation and compares the clinical characteristics and diabetes complications with type 1 diabetes (T1DM) or early onset type 2 diabetes (T2DM).
METHODS: The study covers 9 patients with MIDD, 33 patients with T1DM and 86 patients (age of onset ≤35years) with early onset T2DM, matched for sex, age at onset of diabetes, duration of diabetes. All patients with MIDD were confirmed as carrying the m.3243A>G mitochondrial DNA mutation. Serum HbA1c, beta-cell function, retinal and renal complications of diabetes, bone metabolic markers, lumbar spine and femoral neck BMD bone mineral density were compared to characterize the clinical features of all patients.
RESULTS: Nine patients were from five unrelated families, and the mean (SD) onset age of those patients was 31.2±7.2year. Two patients required insulin at presentation, and six patients progressed to insulin requirement after a mean of 7.2years. β-Cell function in the MIDD group was intermediate between T1DM and early-onset T2DM. In MIDD, four patients were diagnosed as diabetic retinopathy (4/9) and five patients (5/9) had macroalbuminuria. The number of patients with diabetic retinopathy and macroalbuminuria in the MIDD group was comparable to T1DM or early-onset T2DM. The rate of osteoporosis (BMD T-score<-2.5 SD) in the patient with MIDD was higher than the T1DM or early-onset T2DM group.
CONCLUSION: Our study indicates that of the nine subjects with MIDD, three patients (1-II-1, 1-II-3, 1-II-4) who came from the same family had a history of acute pancreatitis. Compared with T1DM or early-onset T2DM matched for sex, age, duration of diabetes, MIDD patients had the highest rate of osteoporosis.
PMID: 28599824 [PubMed - indexed for MEDLINE]
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Development of a multimedia educational programme for first-time hearing aid users: a participatory design.
Int J Audiol. 2018 May 02;:1-10
Authors: Ferguson M, Leighton P, Brandreth M, Wharrad H
Abstract
OBJECTIVE: To develop content for a series of interactive video tutorials (or reusable learning objects, RLOs) for first-time adult hearing aid users, to enhance knowledge of hearing aids and communication.
DESIGN: RLO content was based on an electronically-delivered Delphi review, workshops, and iterative peer-review and feedback using a mixed-methods participatory approach.
STUDY SAMPLE: An expert panel of 33 hearing healthcare professionals, and workshops involving 32 hearing aid users and 11 audiologists. This ensured that social, emotional and practical experiences of the end-user alongside clinical validity were captured.
RESULTS: Content for evidence-based, self-contained RLOs based on pedagogical principles was developed for delivery via DVD for television, PC or internet. Content was developed based on Delphi review statements about essential information that reached consensus (≥90%), visual representations of relevant concepts relating to hearing aids and communication, and iterative peer-review and feedback of content.
CONCLUSIONS: This participatory approach recognises and involves key stakeholders in the design process to create content for a user-friendly multimedia educational intervention, to supplement the clinical management of first-time hearing aid users. We propose participatory methodologies are used in the development of content for e-learning interventions in hearing-related research and clinical practice.
PMID: 29718733 [PubMed - as supplied by publisher]
Related Articles |
Development of a multimedia educational programme for first-time hearing aid users: a participatory design.
Int J Audiol. 2018 May 02;:1-10
Authors: Ferguson M, Leighton P, Brandreth M, Wharrad H
Abstract
OBJECTIVE: To develop content for a series of interactive video tutorials (or reusable learning objects, RLOs) for first-time adult hearing aid users, to enhance knowledge of hearing aids and communication.
DESIGN: RLO content was based on an electronically-delivered Delphi review, workshops, and iterative peer-review and feedback using a mixed-methods participatory approach.
STUDY SAMPLE: An expert panel of 33 hearing healthcare professionals, and workshops involving 32 hearing aid users and 11 audiologists. This ensured that social, emotional and practical experiences of the end-user alongside clinical validity were captured.
RESULTS: Content for evidence-based, self-contained RLOs based on pedagogical principles was developed for delivery via DVD for television, PC or internet. Content was developed based on Delphi review statements about essential information that reached consensus (≥90%), visual representations of relevant concepts relating to hearing aids and communication, and iterative peer-review and feedback of content.
CONCLUSIONS: This participatory approach recognises and involves key stakeholders in the design process to create content for a user-friendly multimedia educational intervention, to supplement the clinical management of first-time hearing aid users. We propose participatory methodologies are used in the development of content for e-learning interventions in hearing-related research and clinical practice.
PMID: 29718733 [PubMed - as supplied by publisher]
Related Articles |
Development of a multimedia educational programme for first-time hearing aid users: a participatory design.
Int J Audiol. 2018 May 02;:1-10
Authors: Ferguson M, Leighton P, Brandreth M, Wharrad H
Abstract
OBJECTIVE: To develop content for a series of interactive video tutorials (or reusable learning objects, RLOs) for first-time adult hearing aid users, to enhance knowledge of hearing aids and communication.
DESIGN: RLO content was based on an electronically-delivered Delphi review, workshops, and iterative peer-review and feedback using a mixed-methods participatory approach.
STUDY SAMPLE: An expert panel of 33 hearing healthcare professionals, and workshops involving 32 hearing aid users and 11 audiologists. This ensured that social, emotional and practical experiences of the end-user alongside clinical validity were captured.
RESULTS: Content for evidence-based, self-contained RLOs based on pedagogical principles was developed for delivery via DVD for television, PC or internet. Content was developed based on Delphi review statements about essential information that reached consensus (≥90%), visual representations of relevant concepts relating to hearing aids and communication, and iterative peer-review and feedback of content.
CONCLUSIONS: This participatory approach recognises and involves key stakeholders in the design process to create content for a user-friendly multimedia educational intervention, to supplement the clinical management of first-time hearing aid users. We propose participatory methodologies are used in the development of content for e-learning interventions in hearing-related research and clinical practice.
PMID: 29718733 [PubMed - as supplied by publisher]
Related Articles |
Development of a multimedia educational programme for first-time hearing aid users: a participatory design.
Int J Audiol. 2018 May 02;:1-10
Authors: Ferguson M, Leighton P, Brandreth M, Wharrad H
Abstract
OBJECTIVE: To develop content for a series of interactive video tutorials (or reusable learning objects, RLOs) for first-time adult hearing aid users, to enhance knowledge of hearing aids and communication.
DESIGN: RLO content was based on an electronically-delivered Delphi review, workshops, and iterative peer-review and feedback using a mixed-methods participatory approach.
STUDY SAMPLE: An expert panel of 33 hearing healthcare professionals, and workshops involving 32 hearing aid users and 11 audiologists. This ensured that social, emotional and practical experiences of the end-user alongside clinical validity were captured.
RESULTS: Content for evidence-based, self-contained RLOs based on pedagogical principles was developed for delivery via DVD for television, PC or internet. Content was developed based on Delphi review statements about essential information that reached consensus (≥90%), visual representations of relevant concepts relating to hearing aids and communication, and iterative peer-review and feedback of content.
CONCLUSIONS: This participatory approach recognises and involves key stakeholders in the design process to create content for a user-friendly multimedia educational intervention, to supplement the clinical management of first-time hearing aid users. We propose participatory methodologies are used in the development of content for e-learning interventions in hearing-related research and clinical practice.
PMID: 29718733 [PubMed - as supplied by publisher]