Odyoloji Bölümü Makale Koleksiyonuhttps://hdl.handle.net/11655/4872024-03-28T09:29:57Z2024-03-28T09:29:57ZComprehensive Analysis Via Exome Sequencing Uncovers Genetic Etiology In Autosomal Recessive Non-Syndromic Deafness In A Large Multiethnic CohortBademci, GuneyFoster, JosephMahdieh, NejatBonyadi, MortazaDuman, DuyguCengiz, F.BasakMenendez, IbisHorta, Oscar DiazShirkavand, AtefehZeinali, SirousSubasioglu, AsliTokgoz-Yilmaz, SunaHernandez, Fabiola Huescade la Luz Arenas Sordo, MariaDominguez-Aburto, JuanHernandez-Zamora, EdgarMontenegro, PaolaParedes, RosarioMoreta, GermaniaVinueza, RodrigoVillegas, FranklinMendoza Benitez, SantiagoGuo, ShengruBozan, NazimTos, TulayIncesulu, ArmaganSennaroglu, GoncaBlanton, Susan H.Ozturkmen Akay, HaticeYildirim-Baylan, MuzeyyenTekin, Mustafahttps://hdl.handle.net/11655/209992020-03-09T08:35:13Z2016-01-01T00:00:00ZComprehensive Analysis Via Exome Sequencing Uncovers Genetic Etiology In Autosomal Recessive Non-Syndromic Deafness In A Large Multiethnic Cohort
Bademci, Guney; Foster, Joseph; Mahdieh, Nejat; Bonyadi, Mortaza; Duman, Duygu; Cengiz, F.Basak; Menendez, Ibis; Horta, Oscar Diaz; Shirkavand, Atefeh; Zeinali, Sirous; Subasioglu, Asli; Tokgoz-Yilmaz, Suna; Hernandez, Fabiola Huesca; de la Luz Arenas Sordo, Maria; Dominguez-Aburto, Juan; Hernandez-Zamora, Edgar; Montenegro, Paola; Paredes, Rosario; Moreta, Germania; Vinueza, Rodrigo; Villegas, Franklin; Mendoza Benitez, Santiago; Guo, Shengru; Bozan, Nazim; Tos, Tulay; Incesulu, Armagan; Sennaroglu, Gonca; Blanton, Susan H.; Ozturkmen Akay, Hatice; Yildirim-Baylan, Muzeyyen; Tekin, Mustafa
Purpose Autosomal recessive non-syndromic 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.
2016-01-01T00:00:00ZDetermination The Needs Of The Parents Having Children With Cochlear Implants During Transition To Pre-School InstitutionsBayguzina, SvetlanaYucel, Esra ErsoyAtas, Ahmethttps://hdl.handle.net/11655/210002020-04-19T12:48:31Z2012-01-01T00:00:00ZDetermination The Needs Of The Parents Having Children With Cochlear Implants During Transition To Pre-School Institutions
Bayguzina, Svetlana; Yucel, Esra Ersoy; Atas, Ahmet
Objective: Exploring the needs of the parents of children with cochlear implants during transition to pre-school institutions. The effects of variables such as the gender, chronological age of the child, duration of the using hearing aid before implantation, age of the implantation, duration of the using of cochlear implant, age at which child began attending rehabilitation center, age and educational state of the parents, socioeconomic level of the family, participation of the parents to the educational program, present of hearing impairment individuals in family are also considered. Materials and Methods: 130 parents who have children with cochlear implant with ages ranging from 3 to 6 participated in this study. "The Scale Parental Information Needs in Transition to Kindergarten" was used to determine the parents' needs. Results: It was found out that the families need all of the information related to transition to pre-school institutions. Except the educational state of the mother, the socioeconomic level of the family, the gender of the child and the participation of the child's father to the educational program, it was found out that the other demographic factors do not lead to any significant differences in the needs (p<0.05). Conclusion: These findings could be explained by the fact of inefficiency of parents' education in regard to solution of parent's needs. Preparing the children and families together and researching of the effectiveness of the services for resolving the needs of them during transition are equally important.
2012-01-01T00:00:00ZCan Global Field Power Be An Objective Tool To Assess Cortical Responses To Acoustic Change? A Study with Cochlear Implant UsersTurkyılmaz, Meral DidemYaralı, MehmetYagcioglu, SuhaCınar, Betul CicekTokgoz-Yılmaz, SunaÖzcebe, EsraSennaroglu, Goncahttps://hdl.handle.net/11655/209982020-04-30T12:59:25Z2013-01-01T00:00:00ZCan Global Field Power Be An Objective Tool To Assess Cortical Responses To Acoustic Change? A Study with Cochlear Implant Users
Turkyılmaz, Meral Didem; Yaralı, Mehmet; Yagcioglu, Suha; Cınar, Betul Cicek; Tokgoz-Yılmaz, Suna; Özcebe, Esra; Sennaroglu, Gonca
Introduction: The aim of the present study was to record and analyse acoustic change complex (ACC) response with Global Field Power (GFP) in cochlear implant users. Materials and Methods: Event-related potentials were recorded from 12 CI users. Study participants were tested in sound-treated electrically shielded test booth in the Auditory Electrophysiology Laboratory at the Hacettepe University. For acoustic change complex recording/ui/stimulus was used. The magnitude of the acoustic change complex was expressed as the ratio of GFP amplitude of ACC response to GFP amplitude of onset response and GFP measures. Results: Recordings from each participant's 20 electrodes were plotted as butterfly plots and GFPs were computed. The GFP waveform of each subject was analyzed in terms of the peaks corresponding to suspected latency ranges of onset, ACC and off-set responses. Moreover ratio of GFP amplitude of ACC response to GFP amplitude of onset response was computed for each subject. Discussions: In this study a new tool for adding objectivity to ACC response identification was applied, which was GFP measures. In addition, ratio of GFP peak amplitude corresponding to suspected ACC and onset response was computed, in order to find a cut-off score that differentiates a clear ACC response from a questionable one.
2013-01-01T00:00:00ZCan Automated Auditory Brainstem Response Be Used As An Initial Stage Screening Test in Newborn Hearing Screening Programs?Konukseven, OzlemGenc, AydanMuderris, TogayKayıkcı, Mavis KulakTurkyılmaz, DidemOztürk, BurakGündüz, Bülenthttps://hdl.handle.net/11655/209972020-04-30T12:30:37Z2010-01-01T00:00:00ZCan Automated Auditory Brainstem Response Be Used As An Initial Stage Screening Test in Newborn Hearing Screening Programs?
Konukseven, Ozlem; Genc, Aydan; Muderris, Togay; Kayıkcı, Mavis Kulak; Turkyılmaz, Didem; Oztürk, Burak; Gündüz, Bülent
Objectives: Generally, newborns have been tested according to the method recommended by the Joint Committee on Infant Hearing all around the world: a two-stage automated transient evoked oto-acoustic emissions (ATEOAE) program, completed by an automated auditory brainstem response (AABR) for the positive diagnosis of hearing impairment. However, there are still some controversies on this two-stage method. In this study, we used ATEOAE and AABR in combination as an initial stage screening protocol to investigate if we could reduce the disadvantages of routinely performed screening procedure. Materials and Methods: A total of 1,978 neonates were screened for hearing impairment during the study period prospectively. 1,917 of them were tested with both ATEOAE and AABR in the first day of their life. If newborns did not meet pass criteria for any of the tests, both tests were repeated in 10-day period. Results: Out of 1,917 neonates, 202 (10.53%) were failed the initial ATEOAE, and 37 (1.97%) failed the initial AABR. 158 of the 202 neonates that failed the ATEOAE and all neonates that failed AABR was subjected to the second test. Four (2.5%) neonates failed second ATEOAE, and three (1,89%) failed second AABR. All four neonates were referred for further audiologic evaluation, and three of them, whose AABR were negative, were diagnosed as having congenital hearing loss. Conclusion: As a first stage screening method AABR has the lowest false positive rate, referral rate and high specificity. Therefore, we recommend that all universal newborn hearing screening programs should consider revising their protocols to decrease expenses in terms of time and money.
2010-01-01T00:00:00Z