Cochlear Implant: the complexity involved in the decision making process by the family

El objetivo de esta investigación es comprender los significados atribuidos por la familia a las etapas del proceso de la toma de decisiones para el implante coclear en el hijo

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Purpose:Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).Methods:After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes.Results:We detected ARNSD-causing variants in 90 (56) families, 54 of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13), MYO7A (11), SLC26A4 (10), TMPRSS3 (9), TMC1 (8), ILDR1 (6), and CDH23 (4). Nine mutations were detected in multiple families with shared haplotypes, suggesting founder effects.Conclusion:We report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56 of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.Genet Med 18 4, 364-371. © American College of Medical Genetics and Genomics

comparative study

Purpose To gather information on perception of male otolaryngologists (MORLs) about gender discrimination towards female otolaryngologists (FORLs). Methods MORLs were invited to participate to an online survey. Minimum participation requirement was completion of at least their first year of residency. The responses were analyzed and compared vis-a-vis with the previously conducted similar survey among FORLs. Results Statistically significant responses on the Likert scale are classified in four main groups. MORLs and FORLs share the same views about financial factors, benefits and opportunities, housework as burden, establishing work-life balance and physical strength requirements. They have opposing views about FORLs being meticulous, exposed to more negative attitude of the opposite gender and men's dominance in decision-making. FORLs don't have consensus, but MORLs disagree about MORLs being favored in pursuing academic careers. On the other hand, MORLs don't have consensus, but FORLs agree about patients having more confidence in MORLs. Conclusion MORLs don't usually have any confrontation with FORLs in regards to the roles of women in the society such as their motherhood role. On the other hand, MORLs show rather a contradiction on their perception towards the gender discrimination mainly in achieving career goals by FORLs such as growing in the profession and holding managing roles. When the views of the both gender group are compared, MORLs don't seem to fully acknowledge FORLs' gender discrimination experience.C1 [Haberal Can, Ilknur] Yozgat Bozok Univ, Otolaryngol Head & Neck Surg, Med Fac, Yozgat, Turkey.[Incesulu, Armagan] Eskisehir Osmangazi Univ, Otolaryngol Head & Neck Surg, Med Fac, Eskisehir, Turkey.[Eyigor, Hulya] Saglik Bilimleri Univ, Otolaryngol Head & Neck Surg, Antalya Training & Res Hosp, Antalya, Turkey.[Senol, Yesim] Antalya Univ, Dept Med Educ, Med Fac, Antalya, Turkey.[Kara, Cuneyt Orhan] Denizli Pamukkale Univ, Otolaryngol Head & Neck Surg, Med Fac, Denizli, Turkey

Perception of male otolaryngologists on gender discrimination: a comparative study

Purpose: To gather information on perception of male otolaryngologists (MORLs) about gender discrimination towards female otolaryngologists (FORLs). Methods: MORLs were invited to participate to an online survey. Minimum participation requirement was completion of at least their first year of residency. The responses were analyzed and compared vis-a-vis with the previously conducted similar survey among FORLs. Results: Statistically significant responses on the Likert scale are classified in four main groups. MORLs and FORLs share the same views about financial factors, benefits and opportunities, housework as burden, establishing work–life balance and physical strength requirements. They have opposing views about FORLs being meticulous, exposed to more negative attitude of the opposite gender and men’s dominance in decision-making. FORLs don’t have consensus, but MORLs disagree about MORLs being favored in pursuing academic careers. On the other hand, MORLs don’t have consensus, but FORLs agree about patients having more confidence in MORLs. Conclusion: MORLs don’t usually have any confrontation with FORLs in regards to the roles of women in the society such as their motherhood role. On the other hand, MORLs show rather a contradiction on their perception towards the gender discrimination mainly in achieving career goals by FORLs such as growing in the profession and holding managing roles. When the views of the both gender group are compared, MORLs don’t seem to fully acknowledge FORLs’ gender discrimination experience. © 2020, Springer-Verlag GmbH Germany, part of Springer Nature

Musical perception and appreciation in cochlear implant users

Introduction: Musical perception and appreciation are different among cochlear implant users. The aim of the our study is to evaluate musical perception and appreciation of adults with cochlear implant. Methods: 34 cochlear implant users who have postlingual hearing loss and no additional problems were included our study. We used Personal Information Form and Cochlear Implant Music Performance Profile for users as data collection tools. Personal Information Form consist of questions about demographic characteristics of the participants. Cochlear Implant Music Performance Profile for users was translated to Turkish and adapted from 'Music Training and Background Questionaire' and 'Listening To Music With A Cochlear Implant Questionaire' were developed by V.Looi. Our study approved by the ethics committee of Hacettepe University and Informed Consent Form was used for all the participants. Results: When the results were examined, the mean scores of cochlear implant users in perception of percussion instruments such as drum/snare observed to be higher than other instruments. Also, users were more successful in perception of male singer voice than female singer. However, users who have duration of cochlear implant use more than 5 years perceived voice female singer more better quality and natural. There was found statistically significant difference between users who have duration of cochlear implant use more than 5 years and less regarding recognition of orchestral/ choir music and pursue the melody (p <0.05)Conclusions: Age of cochlear implantation, duration of cochlear implant use, music style and sound features of instruments are very important factors for musical perception and appreciation of users.Der Erstautor gibt keinen Interessenkonflikt an

The effectiveness of medical prophylactic treatment on vestibular migraine and its effect on the quality of life

OBJECTIVES: The aim of the present study was to determine the efficacy of propranolol treatment in patients with vestibular migraine by the Visual Analog Scale, Dizziness Handicap Inventory (DHI), Vertigo Symptom Scale, and Vestibular Disorders Activities of Daily Living Scale (VADL) and its effect on the quality of life. MATERIALS and METHODS: The study population consisted of 38 patients with vertigo/dizziness who underwent routine evaluation and ves-tibular examinations, were diagnosed with definitive vestibular migraine, and received the same medical treatment protocol (propranolol). The questionnaires and scales that were applied to the patients before and after treatment were evaluated. The results were evaluated with 95% confidence interval, and p<0.05 was accepted as statistically significant. RESULTS: The mean age of the patients was 47.55 (18-75) years, and 27 (71%) patients were female, and 11 (29%) were male. The mean total scores of the DHI before and after treatment were 50.21±22.39 (range: 8-92) and 9.31±9.86 (range: 0-58), respectively (p<0.001). The degree of disability after treatment was low in all patients (p<0.001). The total scores of the VADL before and after treatment were 186.63±79.65 (range: 32-280) and 55.52±51.89 (range: 28-273), respectively (p<0.001). There was no correlation between these two scales (p=0.235). CONCLUSION: To our knowledge, this is the first study to evaluate both the efficacy of propranolol treatment and its effects on the quality of life in vestibular migraine. The severity, frequency, and number of attacks and disability scores were reduced, and the quality of life was improved in patients with vestibular migraine with propranolol treatment. © 2020, AVES. All rights reserved