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    The Evaluation of the Genetic Variation Types of the Uridine Diphosphate Glucuronosyl Transferase 1A1 Gene by Next-Generation Sequencing and Their Effects on Bilirubin Levels in Obese Children
    (Mary Ann Liebert, Inc, 2024) Aslantas, Merve; Kilicaslan, Onder; Eroz, Recep; Kocabay, Kenan
    Background and Objectives: Obesity is a major nutritional problem with an increasing prevalence among children and adolescents. The uridine-diphosphate-glucuronosyl-transferase1A1 (UGT1A1) gene encodes the UDP-glucuronosyl transferase enzyme, converting the toxic form of bilirubin to a soluble, nontoxic form. There are yet to be studies on the evaluation of the UGT1A1 variant types detected by next-generation sequencing (NGS) and their effects on bilirubin levels in nonsyndromic obese children. Methods: Forty-five children with body mass index (BMI) >95 percentile (p) constituted the obesity group and fourteen healthy children with BMI <85p constituted the control group. Anthropometric, clinical features, and biochemical parameters were evaluated. Furthermore, the UGT1A1 gene was sequenced by NGS. Results: The obese patients had lower total, direct, and indirect bilirubin levels (p = 0.422, 0.026, and 0.568, respectively). In addition, obese patients had more genetic variations in the UGT1A1 gene compared with the control group (62.2% and 50%, respectively). We found that children with variations had higher total direct and indirect bilirubin levels compared with those without variation (p = 0.016, 0.028, and 0.015, respectively). Children diagnosed with obesity in the first two years of their life had fewer genetic variations and lower total bilirubin levels (p = 0.000 and 0.013, respectively). Conclusions: It is assumed that bilirubin can be protective against many chronic diseases. Although bilirubin levels are found to be lower in obese children compared with the control group, some variations in the UGT1A1 gene may be supported by raising bilirubin. We suggest that high bilirubin levels caused by those UGT1A1 variations may be protective against obesity and its many negative effects.
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    Foreign Body Aspiration in Children; Duzce University Five-Years Results
    (Duzce Univ, Fac Medicine, 2021) Sav, Nadide Melike; Kilicaslan, Onder; Karaca, Seda Erisen; Tamturk, Cansu; Kabaklioglu, Murat
    Objective: Foreign body aspiration is a preventable cause of mortality and morbidity especially in younger than three years old children. The aim of this study is to determine the risk factors, causes and prognosis in patients with foreign body aspiration. Methods: In this study, laboratory and examination findings of 35 patients who underwent bronchoscopy, because of suspected foreign body aspiration, were retrospectively analyzed. Results: Of the 35 patients included in the study, 19 were boys and 16 were girls. The mean age was 3,2. The most causes of application were cough, and wheezing. Foreign body was detected in the right main bronchus in 62,8%, in the left main bronchus in 25,7%, in the trachea in 5,7% and in both bronchi in 5,7% of the patients. Conclusions: Early diagnosis and intervention significantly reduce the mortality and morbidity in foreign body aspirations. Prevention of foreign body aspirations is possible with the education of babysitters and family members.
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    Re: Alpha-lipoic acid intoxication in an adolescent girl
    (Aves, 2021) Polat, Sinem; Kilicaslan, Onder; Sonmez, Feruza Turan
    [Abstract Not Available]
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    Thrombosis risk of Alport syndrome patients: evaluation of cardiological, clinical, biochemical, genetic and possible causes of inherited thrombophilia and identification of a novel COL4A3 variant
    (Lippincott Williams & Wilkins, 2020) Eroz, Recep; Damar, Brahim H.; Kilicaslan, Onder
    To evaluate cases with Alport syndrome for laboratory, radiological, ophthalmological, auditory tests, cardiological and inherited thrombophilia risk. Laboratory findings, abdominal and urinary ultrasonography, ophthalmological and auditory tests and cardiological examination of 21 Alport syndrome suspicious cases were performed. Also, collagen type IV alpha three chain (COL4A3) gene, four chain (COL4A4) gene and five chain (COL4A5) genes were sequenced by next-generation sequencing system. In addition, possible causes of inherited thrombophilia were evaluated. A novel (c.2806C> T/p.Gln936Ter) variation in COL4A3 gene was detected in three cases. Also c.221G>A/p.Arg74Gln variation in COL4A5 gene of two cases, c.4421C>T/p.Thr1474Met variation in COL4A4 gene of one case, c.665C>T/p.Pro222Leu variation in COL4A4 gene of one case and compound heterozygous c.4421C>T/(p.Thr1474Met) and c.665C>T/p.Pro222Leu variation in COL4A4 gene of one case were detected. Although 10 (47.6%) cases had microscopic hematuria, six (28.6%) cases had macroscopic hematuria, but there were not hematuria in five (23.8%) of cases. Three cases with variation carrier in COL4A genes and one case without variation carrier had vision problem. Also, one case with variation carrier in COL4A gene had hearing loss. All cases with variation carrier in COL4A genes exclude one had at least one cardiac problems. Also, all cases with variation carrier in COL4A genes had possible causes of inherited thrombophilia risk. In addition to developing risk of progressive kidney failure, sensorineural hearing loss and ocular abnormalities, Alport syndrome cases may have increasing cardiac problems and possible causes of inherited thrombophilia risk. Therefore, these cases should be regularly evaluated and followed for cardiac problems and inherited thrombophilia risk. Copyright (C) 2020 Wolters Kluwer Health, Inc. All rights reserved.