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Öğe Evaluation of deaf children in a large series in Turkey(Elsevier Ireland Ltd, 2005) Öztürk, Özcan; Sılan, Fatma; Oğhan, Fatih; Egeli, Erol; Belli, Şeyda; Tokmak, Abdurrahman; Harputluoğlu, Uğur; Önder, Halil İbrahim; Zafer, CansuObjective: Evaluation of the deafness etiology, ear examination findings and hearing levels of deaf children in a large series. Patients and methods: We studied 840 deaf primary school children (486 mate, 354 female, mean age 12.69 +/- 3.52, range 5-22). A questionaire investigating the prenatal, perinatal and postnatal etiological causes was prepared and pedigree analysis was performed. After ENT examination, odyologic tests were performed. Results: The etiological features of deafness were found for genetic causes as 429 cases (51.1%), 127 children (15.1%) for acquired group and 284 children (33.8%) for unknown group. We confirmed 136 (15.5%) syndromic deaf children and 19 of them (13.9%) were autosomal recessive (AR), 105 of them (77.2%) were autosomal dominant (AD), six (4.4%) of them were X-linked. Two hundred and ninety-three deaf (33.4%) children were in the familial nonsyndromic group. In this group, the inheritance of 255 (87%) were AR, 23 (7.8%) were AD and 15 (5.2%) were X-linked recessive. Febrile convulsion was identified as the most common etiology in 36 (4.3%) cases in the acquired group. Three hundred and twenty-two (67.7%) children had profound HL (above 91 dB), 111 (23.3%) had severe HL and 43 (9%) had moderately severe HL. Sensorineural. HL was found in 439 (92.2%) and mixed type hearing loss was seen 37 (7.8%) of 476 cases. We found many major and minor abnormalities and ocular, ear and dental pathologies. The prevalence of ear diseases was found in 203 (24.2%) of children. Impacted wax was found in 80 (9.5%) of 840 children with otoscopic examination and was the most common pathology, retraction in 70 (8.3%) and perforation in 15 (1.8%) followed it. Conclusion: Preventable ear disease are important health problems among school children for the deaf because these diseases can affect the real level and type of deafness, so determining early diagnostic criteria, ear diseases and minor abnormalities is important for early rehabilitation. Syndromes can be prevented in pregnancy, infections can be prevented in prenatal or postnatal period but unknown group cannot be prevented although the unknown etiology can be reduced by multidiciplinary approach.Öğe Koroner arter hastalarında faktör V leiden mutasyonunun tespiti(Bolu Abant İzzet Baysal Üniversitesi, 2005) Zafer, Cansu; Sılan, Fatma7. TÜRKÇE ÖZET Özet Faktör V Leiden mutasyonu (G 1691 A) kalıtsal bir pıhtılaşma bozukluğudur. Protein C'nin aktivitesine direnç gösterir. Mutasyon 506. aminoasit pozisyonundaki tek bir nükleik asitin yerdeğiştirmesi (G-»A) sonucu oluşur. Faktör V Leiden mutasyonu teombofilinin en sık görülen genetik nedenlerinden biridir. Bu mutasyona Avrupada %7- 10 sıklıkta rastlanmaktadır. Böyle bir mutasyon için homozigot bireylerde heterozigot bireylerden daha yüksek tromboz riski mevcuttur. Özellikle cerrahi girişim sonrasında, kadınlarda oral kontraseptif kullanımı sırasında ve postpartum dönemde derin ven trombozu görülme riskinin arttığı saptanmıştır. Yapılan çalışmalarda Faktör V Leiden mutasyonunun artelyal tromboz ve Mıyokard Marktüsü (MI) insidansım arttırıp arttırmadığı konusunda çelişkili sonuçlar bildirilsede özellikle sigara içen genç bayanlarda Faktör V Leiden mutasyonu varlığında başka risk faktörü olmasa bile kalp krizi riskinin 30 kata kadar arttığı bildirilmiştir. Ayrıca bu mutasyonu taşıyan bireylerde venöz tromboz, periferal vasküler hastalıklar, felç, tekrarlayan düşük, pulmoner embolizm ve kalp krizi görülme riski arttırdığı düşünülmekte ve bu konularda çalışmalar devam etmektedir. Bu nedenle trombofili için yüksek risk grubunu oluşturan bireylerin taranması oldukça önemlidir. Çalışmamızda yaşlan 40-80 arasında değişen MI geçirmiş 30 hastadan 7'sinde (%23.3'ünde), Kontrol grubunda ise yaşlan 22-64 arasında değişen 30 bireyden 3 'ünde (%10'nunda) FVL mutasyonu saptanmıştır. FVL mutasyonunun MI için önemli bir risk faktörü olduğu sonucuna vanlmıştır. Anahtar Kelimeler: Faktör V Leiden, Koroner Arter Hastalığı (KAH), Miyokard infarktüsü (MI), tromboz 59Öğe Waardenburg syndrome(2005) Sılan, Fatma; Zafer, CansuWaardenburg Syndrome (WS) is an autosomal dominant syndrome characterized with hearing loss and pigmentation disorders. Its frequency has been reported to be 1/20.000-40.000. Among its clinical features dystopia canthorum, high broad nasal root, synorphrys, heterochromia iridium or isochromic blue irides of both eyes, white forelock, pigmentary disorders and congenital sensorineural hearing loss can be enumerated. This syndrome is clinically and genetically heterogenous and classified into four types, WS type 1 and 3 are differentiated from type 2 and 4 by the presence of dystopia canthorum. WS type 3 also has also similar characteristics in addition to extremity abnormalities. WS type 4 is also associated with Hirschsprung Syndrome. WS type 4 also discriminates from the other 3 types by its autosomal recessive characteristics.Öğe Waardenburg syndrome in the Turkish deaf population(Medecine Et Hygiene, 2006) Sılan, Fatma; Zafer, Cansu; Önder, İbrahimWaardenburg syndrome in the Turkish deaf population: Waardenburg Syndrome (WS) is an autosomal, dominantly inherited disorder that accounts for more than 2% cases of congenital deafness. The aim of this study is to determine the WS incidence among deaf pupils. Dysmorphological examination was performed on 720 children who were attending 7 special schools in Turkey and who had hearing disabilities. All subjects in the study were examined for WS diagnostic criteria. We detected 49 patients (6.8%) with WS among the 720 children examined. Six patients had WS type 1 (12.2%) and 43 had type 2 (87.8%). We observed 2 to 5 major diagnostic criteria for WS. Out of all the subjects in the study, only two patients have deaf first degree relatives. All subjects had been previously examined by physicians for deafness but none of them had been then diagnosed to have Waardenburg Syndrome. Instead, they were all misdiagnosed as to have nonsyndromic deafness. Awareness of WS diagnostic criteria by the physicans will provide accurate diagnosis for many deaf pupils and their first degree relatives who are able-to-hear WS patients and whose children are at risk for deafness.
