Yazar "Kilic, Mustafa" seçeneğine göre listele

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    First manifestation of citrullinemia type I as Sandifer syndrome
    (Turkish J Pediatrics, 2017) Kilic, Mustafa; Altinel-Acoglu, Esma; Zorlu, Pelin; Yuksel, Deniz; Bulbul, Selda; Haeberle, Johannes
    We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite the fact that many patients are already known in the literature, this is the first report of a Sandifer syndrome-like presentation of citrullinemia type I. This paper suggests that suspicion of Sandifer syndrome should also lead to inclusion of urea cycle disorders in the list of differential diagnoses.
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    Öğe
    Numerical Investigation of Cooling an Industrial Roller by Using Swirling Jets
    (TUBITAK, 2023) Kilic, Mustafa; Sahin, Mahir; Iqbal, Mehmood; Demircan, Tolga; Kilinc, Zülfikar; Ullah, Atta
    Effective cooling of industrial rollers has prime importance to prevent the quality degradation of the system and product. High temperature difference on the roller surface may result in thermal stresses and can cause deformations on roller surface and product. In order to prevent these deformations, cooling of an industrial roller by using swirling jets is investigated for different parameters numerically in this study. Effects of Reynolds number, surface heat flux and variation in inlet temperature of the fluid on the performance of an industrial roller are investigated in terms of temperature difference between inner and outer surface of the roller. ANSYS Fluent CFD program is used to simulate heat transfer and fluid flow in this numerical study. As a result, it is obtained that increasing Re number from 1000 to 1700 causes a decrease of 45.4% in the temperature difference between inner and outer surface of the roller. Increasing surface heat flux from 5000 to 12500 W/m2 has resulted in an increase of 149.4% in difference between inner and outer surface temperature. Increasing coolant fluid inlet temperature from 5 to 20°C has resulted in an increase of surface temperature but there is no significant change in heat transfer characteristics of the system. It is evaluated that the results of this study will contribute to design more effective cooled industrial roller. © 2023, TUBITAK. All rights reserved.
  • Küçük Resim
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    Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
    (Elsevier, 2014) Ozgul, Riza Koksal; Karaca, Mehmet; Kilic, Mustafa; Kucuk, Ozgul; Yucel-Yilmaz, Didem; Unal, Ozlem; Dursun, Ali
    We aim to investigate the genetic basis of isovaleryl-CoA dehydrogenase (IVD) gene mutations and genotype-phenotype correlations in Turkish patients. Accordingly, bi-directional sequencing was performed to screen 26 patients with isovaleric acidemia (IVA). Nine novels (c.145delC, c.234 + 3G > C, c.506_507insT, p.Glu85Gln, p.Met147Val, p.Ala268Val, p.Ile287Met, p.Gly346Asp and p.Arg382Trp) and six previously reported (c.456 + 2T > C, p.Arg21His, p.Arg21Pro, p.Arg363Cys, p.Arg363His p.Glu379Lys) pathogenic mutations were identified. Pathogenicity of the novel mutations was supported using computational programs. No clear genotype-phenotype correlation could be determined. One of the cases with the novel c.234 + 3G > C mutation has portoseptal liver fibrosis, the clinical condition that was first reported for IVA. This study is the first comprehensive report from Turkey related to IVA genetics that provides information about the high number of disease-causing novel mutations. (C) 2014 Elsevier Masson SAS. All rights reserved.