Browsing by Author "Yazici, Zeynep"

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    Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (aed): Neuroimaging findings
    (Sage Publications Ltd, 2020-01-30) Dusak, Abdurrahim; Hafizoglu, Demet; Kilic, Sara Sebnem; Yazici, Zeynep; 0000-0002-4363-5861; 0000-0001-8571-2581; AAH-1658-2021; AAI-2303-2021
    Background Anhidrotic ectodermal dysplasia (AED) is a rare, mostly X-linked recessive genodermatosis, characterized by congenital defects of ectodermal derivative structures as the central nervous system (CNS) is primarily ectodermal in origin. Purpose To evaluate CNS variations and abnormalities in AED. Material and Methods A retrospective analysis was made of the neurological and neuroimaging findings of 17 children (12 boys, 5 girls; median age = 8 years; age range = 2-14 years) diagnosed with AED in our pediatric clinics during 2008-2016. The pattern of CNS variation and abnormalities were evaluated by comparing of these findings with an age- and gender-matched healthy control group with no family history. Results Of the 17 AED cases identified on the basis of neuroimaging findings, 6 (35.3%) were seen to be normal. Associated CNS variation and abnormalities including cavum septum pellucidum (35.3%), callosal dysgenesis (11.8%), prominent Virchow-Robin spaces (64.7%), cortical sulcal dilation (41.1%), mega cisterna magna (35.3%), focal cortical dysplasia (11.8%), and delayed myelination (58.8%) were observed in 11 (64.7%) children with AED. Conclusion AED suggests a spectrum of CNS variation and abnormalities, presenting with neurological and neuroimaging findings, demonstrated in the embryonic surface- and neuro-ectoderm derived structures. The results of this study suggest that CNS variation and abnormalities might be associated with AED.
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    Publication
    Clinical clues
    (Aves Yayincilik, Ibrahim Kara, 2012-09-01) Gurpinar, Arif; GÜRPINAR, ARİF NURİ; Yazici, Zeynep; YAZICI, ZEYNEP; Celebi, Solmaz; ÇELEBİ, SOLMAZ; Hacimustafaoglu, Mustafa; HACIMUSTAFAOĞLU, MUSTAFA KEMAL; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Cerrahi Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Radyoloji Anabilim Dalı.; 0000-0003-4646-660X; AAI-2303-2021