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Öğe Biotinidase deficiency in a four-week-old infant with infantile spasms(2006) Şenses, Dursun Ali; Şimşe, Enver; Yar, Neşe Ersöz; Keskin, Mahmut; Kocabay, KenanProfound biotinidase deficiency was diagnosed in a 28-day old infant with seizures-like infantile spasms, alopecia and erythematous rash. Clinical signs improved dramatically with biotine treatment. Clinical features of biotinidase deficiency are discussed.Öğe Is there a relationship between cord blood pregnancy-associated plasma protein-A and birth weight and length?(Elsevier Ireland Ltd, 2007) Şenses, Dursun Ali; Coşkun, Abdurrahman; Kiseli, Mine; Berberoğlu, Murat; Kandemir, Ömer; Duran, SadıkBackground: Infants whose mothers had low serum pregnancy-associated plasma protein-A (PAPP-A) in the first trimester were observed to have intrauterine growth retardation. Aim: Suggesting that PAPP-A plays an important role in the availability and activity of insulin-like growth factors (IGFs), which affect growth, we aimed to investigate cord blood PAPP-A levels of infants with different birth lengths and weights. Study design and outcome measures: The study included 97 full-term, live-birth neonates. After birth, their lengths and weights were measured. Cord blood PAPP-A Levels were measured with an ultra sensitive enzyme-linked immunosorbent assay (ELISA). Results: There was a significant negative correlation between cord blood PAPP-A levels and birth weight (r=-0.23; P=0.023) and length (r=-0.24; P=0.016). Using the classification made according to their length, it was found that newborns with short Lengths had significantly higher mean PAPP-A levels than neonates with normal and tong lengths (P=0.022; P=0.002, respectively), whereas the difference between infants with normal lengths and infants with Long lengths was not found to be statistically significant (P > 0.05). On the other hand, there was a difference between the mean PAPP-A levels of the neonate groups classified according to weight; however, these differences were not statistically significant (P > 0.05). Conclusion: We concluded that increased cord blood PAPP-A levels were associated with birth length and weight decreases; however, PAPP-A levels affected birth length more than birth weight. (c) 2006 Elsevier Ireland Ltd. All rights reserved.Öğe Vitamin D-resistant rickets, primary hypothyroidism, and diabetes insipidus associated with infantile cystinosis(Karger, 2006) Şimşek, Enver; Şenses, Dursun Ali; Mindanlı, Gültekin; Kocabay, KenanAim: To take into consideration of the diagnosis of infantile cystinosis in a patient who has multiple endocrine gland dysfunctions. Material and Methods: An 8-month-old boy presented with polyuria and polydipsia. Past-medical history revealed that his complaining had been for 6 months and he was not gaining weight enough, stunted growth, and photophobia for 3 months.Öğe Yenidoğanlarda pnömotoraks deneyimlerimiz(2006) Ağartan, Canan Aldırmaz; Uzun, Hakan; Mindan, Gültekin; Şenses, Dursun Ali; Kocabay, KenanAmaç: Yenidoğan döneminde solunum sıkıntısı yapan nedenlerden biri de pnömotoraks olup, mekanik ventilasyon tedavisi, mekonyum aspirasyonu sendromu, solunum güçlüğü sendromu ve perinatal asfiksi nedeniyle canlandırma işlemi uygulanan olgularda gelişme riski yüksektir. Hastanemiz yenidoğan bakım ünitesinde semptomatik pnömotoraks saptanarak tedavi edilen olgular geriye dönük olarak incelenmiştir. Gereç ve yöntem: Ocak 2003-Ocak 2006 tarihleri arasındaki 7 pnömotorakslı olguda gestasyonel yaş, ağırlık, aminon sıvısının mekonyumla boyalı olup olmadığı, primer akciğer patolojisi varlığı ve pnömotoraksın tarafı değerlendirildi. Tanıda akciğer grafisi ve bazı olgularda konjenital anomali varlığını araştırmak için bilgisayarlı tomografi yapıldı. Toraks drenaj işlemi için 10 F tüp kullanıldı. Bulgular: 7 olgunun değerlendirilmesinde; pnömotoraks insidansı %1,2 (7/570), erkek kız oranı 1,3, başvuru zamanı 10 saat ile 6 gün idi. 5 hasta (%71,4) prematürdü. Pnömotoraks sağda 3 (%42,9), bilateral 4 (%57,1) vakada mevcuttu. Serimizde mortalite % 57,1 olarak bulunmuştur. Vefat eden olguların büyük bir kısmı (%75) prematüre, solunum güçlüğü sendromlu ve iki taraflı pnömotoraksı olan olgulardı. Sonuç: Yenidoğan pnömotoraks olgularında mortalitenin prematürite, SGS ve iki taraflı pnömotoraks varlığında yüksek olması literatür ile uyumlu bulundu.