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3. Assessment of Awareness and Opinions of Influenza Vaccination in Parents of Children Diagnosed with Chronic Kidney Disease

Author

SOYALTIN, Eren, primary, KARADAĞ ÖNCEL, Eda, additional, ARSLANSOYU ÇAMLAR, Seçil, additional, ERFİDAN, Gökçen, additional, ÖZDEMİR ŞİMŞEK, Özgür, additional, BAŞARAN, Cemaliye, additional, ALAYGUT, Demet, additional, MUTLUBAŞ, Fatma, additional, YILMAZ ÇİFTDOĞAN, Dilek, additional, and KASAP DEMİR, Belde, additional

Published
2022
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5. Obez Çocuk ve Ergenlerde Mesane Bağırsak Disfonksiyonu ve Yaşam Kalitesi

Author

Arslansoyu Çamlar, Seçil, primary, Baghırov, Abbasqulu, additional, Eliacik, Kayi, additional, Üzüm, Özlem, additional, Özyurt, Gonca, additional, Soyaltın, Eren, additional, Çatlı, Gönül, additional, Alaygut, Demet, additional, Mutlubaş, Fatma, additional, Dundar, Bumin N, additional, and Kasap-Demir, Belde, additional

Published
2021
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6. Chanarin-dorfman syndrome with multi-system involvement in two siblings.

Author

Arslansoyu Çamlar S, Gençpınar P, Makay B, Yüzbaşıoğlu A, Arslan N, Emre Dökmeci S, Anal O, and Köse G

Abstract

Unlabelled: Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan's anomaly) in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear., Conflict of Interest: None declared.

Published
2013
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