Browsing by Author "Ocak, Emre"

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    A Noteworthy Pathology in Children with Learning Disabilities: Late Latency Response Failure in Central Auditory Processing
    (2018) Ocak, Emre; Tıp Fakültesi
    Objectives: This study investigates the cortical auditory pathways in children with and without learning disability (LD). Materials and methods: A prospective, controlled clinical study was conducted on patients diagnosed with LD and was followed-up for a minimum period of 6 months in the Department of Child and Adolescent Psychiatry were included as study group. The control group comprised of age- and gender-matched healthy individuals. After otolaryngological and psychiatric examination, all participants were tested using pure-tone audiometry, tympanometry, acoustic reflex, and cortical auditory evoked potentials. Test results were evaluated and compared for each group. Results: The study included a total of 60 children (30 children with LD as study group and 30 healthy children as control group) who met the inclusion criteria. When event-related potentials were taken into consideration, P2 and P300 mean amplitudes for right ears and N1 and P300 mean amplitudes for left ears were significantly lower in study group than those in the control group. Likewise, P2 and P300 mean latency in right ears and P1, N1, and P300 mean latency in left ears were prolonged in study group (p<0.05). Conclusion: Patients with LD may have disorders of the cortical auditory processing even if they have normal hearing screening tests. Pathologies in late-latency evoked potentials may have a role in the etiology of these patients.
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    Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies
    (2019) Ocak, Emre; Tıp Fakültesi
    Inner ear anomalies diagnosed using a radiological study are detected in almost 30% of cases with congenital or prelingual-onset sensorineural hearing loss. Inner ear anomalies can be isolated or occur along with a part of a syndrome involving other systems. Although astonishing progress has been made in research aimed at revealing the genetic causes of hearing loss in the past few decades, only a few genes have been linked to inner ear anomalies. The aim of this review is to discuss the known genetic causes of inner ear anomalies. Identifying the genetic causes of inner ear anomalies is important for guiding clinical care that includes empowered reproductive decisions provided to the affected individuals. Furthermore, understanding the molecular underpinnings of the development of the inner ear in humans is important to develop novel treatment strategies for people with hearing loss.
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    MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
    (2018) Ocak, Emre; Tıp Fakültesi
    While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.