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    Evidence for genotype-phenotype correlation for OTOF mutations
    (Elsevier Ireland Ltd, 2014) Yildirim-Baylan, Muzeyyen; Bademci, Guney; Duman, Duygu; Ozturkmen-Akay, Hatice; Tokgoz-Yilmaz, Suna; Tekin, Mustafa
    Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests. Results: Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family. Conclusions: The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
  • Küçük Resim
    Öğe
    Göz içi basınç ölçüm yöntemlerinin karşılaştırılması
    (2016) Tekin, Mustafa; Ünlü, Kaan
    AMAÇ: Bu çalışmada NKT, GAT ve SCH tonometresi ile yapılan GİB ölçümleri karşılaştırılarak, NKT 'nin güvenilirliğmin araştınlması amaçlanmıştır. GEREÇ VE YÖNTEM:Çalışmaya GİB'ı 10 mmHg'mn altında 50 olgu(hipotansif grup), GİB'ı 10-20 mmHg arasında 50 olgu(normotansif grup) ve GİB'ı 21 mmHg ve üzerinde 50 olgu (hipertansif grup) dahil edildi. Bütün olgularda NKT, GAT ve Schiötz tonometresi ile GİB 'lan ölçülerek karşılaştırmalı değerlendirme yapıldı. BULGULAR: Hipotansif grupta NKT ile ortalama GİB, sağ ve sol gözde sırasıyla; 10.12 ± 1.68 mmHg ve 10.09 ± 1.64 mmHg ; GAT üe 8.80 ± 1.19 mmHg ve 8.64 ± 1.17 mmHg ; SCH ile 9.08 + 1.73 ve 9.15 ± 2.03 mmHg olarak bulunmuştur. NKT'nin SCH ile ilişkisi her iki gözde istatistiksel olarak anlamsız bulunmuştur. GAT ile ilişkisi sağ gözde istatistiksel olarak anlamlı, sol gözde ise anlamsız olarak bulunmuştur. GAT ile SCH ilişkisi her iki gözde istatistiksel olarak anlamlı bulunmuştur. Normotansif grupta NKT ile ortalama GİB, sağ ve sol gözde sırasıyla; 15.77 ± 2.82 mmHg ve 15.64 ± 2.69 mmHg; GAT ile 13.76 ± 2.75 mmHg ve 13.54 ± 2.99 mmHg; SCH ile 13,23 ± 2,98 ve 13.63 ± 2.99 mm Hg olarak bulunmuştur. NKT'nin her iki gözde GAT ve SCH ile ilişkisi istatistiksel olarak anlamlı bulunmuştur. Hipertansif grupta NKT ile ortalama GİB, sağ ve sol gözde sırasıyla; 28.51 ± 10.55 mmHg ve 23.28 ± 8.27 mmHg, GAT ile 26.12 ± 9.64 mmHg ve 21.12 ± 7.38 mmHg ; SCH ile 24.56 ±9.55 mmHg ve 20.60 ± 7.36 mmHg olarak bulunmuştur. NKT'nin her iki gözde GAT ve SCH iie ilişkisi istatistiksel olarak anlamlı bulunmuştur. SONUÇ: Glokomlu hastaların takibinde GAT ile ölçüm tercih edilmelidir.
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    Öğe
    INTELLECTUAL WOMEN’S UNDERSTANDING OF RELIGION IN TURKEY
    (Yediveren Kitap, 2004) Tekin, Mustafa
    Relation between intellectual and religion is very interesting. Specially intellectual women’s understanding of religion is more important in Turkey. In this article, we studied intellectual women in three categories. These are modernist, traditional and Islamist intellectual women. We know that there are different understandings of religion. The sources of these differences are social, cultural conditions, sexuality and external effects. Modernist intellectuals’ understanding of religion base on reduction. According to them, religion must change. Religion must take into consideration modern idea. In this context, the key words of modernist intellectuals are positivism and sociological truth. Synthesis is the most important quality in the traditional intellectuals. They always emphasize traditional understanding of religion. They appreciate social values and forms the process of modernization in Turkey. As far Islamist intellectuals, they comprehend religion as codes of meaning of societies. Islamist intellectuals oppose reduction and synthesis. The whole intellectuals do not appropriate understending of formalistic religion.