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Öğe Depression and anxiety among parents of phenylketonuria children(Riyadh Armed Forces Hospital, 2015) Gunduz, Mehmet; Arslan, Nur; Unal, Ozlem; Cakar, Sevim; Kuyum, Pinar; Bulbul, Selda F.Objective: To investigate the existence of depression and/or anxiety with underlying risk factors among parents of children with classical phenylketonuria (PKU). Methods: This cross-sectional study was conducted in the Division of Pediatric Metabolism, Ankara Children's Hospital, Dokuz Eylul University, Kirikkale University, and Erzurum Local Research Hospital, Turkey, between January and July 2014. Parents of 61 patients and 36 healthy controls completed the self-report questionnaires. We used Beck Depression Inventory (BDI) to assess the parental depression and State-Trait Anxiety Inventory S-T (STAI S-T) to assess parental anxiety. Results: Depression and anxiety scores were significantly higher in the case group (BDI: 12.3 +/- 9.1; STAI-S: 38.2 +/- 9.6; STAI-T: 43.2 +/- 6.9) than controls (BDI: 5.4 +/- 4.1 p=0.000; STAI-S: 31.8 +/- 7.6 p=0.001; STAI-T: 37.0 +/- 7.2 p=0.000). Mothers of the patients had higher scores than the other parental groups (BDI: p=0.000, STAI-S: p=0.001 and STAI-T: p=0.000). Logistic regression analysis showed that low educational level of the parent was the only independent factor for depression (OR: 9.96, 95% CI: 1.89-52.35,p=0.007) and state anxiety (OR: 6.99, 95% CI: 1.22-40.48, p=0.030) in the case group. Conclusion: A subset of parents with PKU patients have an anxiety or depressive disorder. Supportive services dealing with the parents of chronically ill children such as PKU are needed in order to reduce the level of anxiety.Öğe Effect of heat treatment on the microstructures and mechanical properties of Al-5.5Zn-2.5Mg alloy(Elsevier Science Sa, 2016) Acer, Emine; Cadirli, Emin; Erol, Harun; Kirindi, Talip; Gunduz, MehmetThe Al-5.5 Zn-2.5 Mg (wt%) ternary alloy was prepared using a vacuum melting furnace and a casting furnace. Microstructural and mechanical properties of the alloy were investigated as-cast and under heat-treated conditions. To investigate the effect of heat treatment, numerous designed Al-5.5 Zn-2.5 Mg samples were homogenized under different conditions and then aged under different regimes. The effects of heat treatment on the microstructures were examined by OM, SEM, and TEM, and mechanical properties of the Al-Zn-Mg alloy were studied. A good combination of high microhardness and reasonable tensile strength were obtained by successive and suitable heat treatments. After aging for 24 h at 150 degrees C, the peak microhardnes and tensile strength values were achieved as 157 MPa and 188.8 MPa, respectively. The microscopic fracture surfaces of the aged samples under different homogenization and aging conditions were observed using scanning electron microscopy. Fractographic analysis of the tensile fracture surfaces shows that the type of fracture changed significantly from ductile to more ductile depending on the aging regime. (C) 2016 Elsevier B.V. All rights reserved.Öğe Effect of heat treatments on the microhardness and tensile strength of Al-0.25 wt.% Zr alloy(Elsevier Science Sa, 2015) Cadirli, Emin; Tecer, Hicran; Sahin, Mevlut; Yilmaz, Elif; Kirindi, Talip; Gunduz, MehmetIn the present work, the effect of heat treatments on the microhardness and tensile properties of the Al-0.25 Zr (wt.%) alloy have been investigated. The Al-0.25 Zr (wt.%) alloy was melted in a vacuum furnace, and the molten alloy was poured into crucibles held in a hot filing furnace. Then, the samples were directionally solidified from bottom to top and aged isothermally and isochronally in a muffle furnace. Aging was performed in two ways: using a wide range of temperatures (350-600 degrees C) with a constant aging time (100 h) and a wide range of aging times (3-240 h) with a constant temperature (400 degrees C). The dependence of the microhardness (HV) and ultimate tensile strength (sigma(UTS)) on the aging temperatures and aging times was determined. According to the experimental results, the HV and sigma(UTS) values of the aged samples increase at a certain aging temperature and aging time values, reaching peak values at specific temperatures and aging times. The microhardness and ultimate tensile strength decreased with further increase of aging temperatures and aging times. The microscopic fracture surfaces of the aged samples under different aging conditions were observed using scanning electron microscopy. Fractographic analysis of the tensile fracture surfaces shows that the type of fracture changed significantly from ductile to brittle depending on the aging times. Transmission electron microscopy was also used to characterize the precipitation processes in an Al-0.25 Zr (wt.%) alloy aged at 400 degrees C for 120 h. (C) 2015 Elsevier B. V. All rights reserved.Öğe Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises(Elsevier France-Editions Scientifiques Medicales Elsevier, 2021) Kisa, Pelin Teke; Uzun, Ozlem Unal; Gunduz, Mehmet; Bulbul, Fatma Selda; Kose, Engin; Arslan, NurObjectives: This study aimed to investigate the frequency and status of depression and anxiety among mothers of children with inborn errors of metabolism (IEM) who were on a restricted diet and previously experienced metabolic crises. Methods: This cross-sectional multicenter descriptive study included 93 children with IEM who were on restricted diet. The patients were divided into two groups: those who had experienced metabolic crises (n=44, urea cycle defect, organic acidemia, maple syrup urine disease, hereditary fructose intolerance) and those who had not experienced previous metabolic crises (n=49; phenylketonuria, galactosemia, and nonketotic hyperglycinemia). The control group comprised 37 healthy children. The mothers of the patients and control participants answered a questionnaire about their and their children's demographic and clinical characteristics and completed the Beck Depression Inventory (BDI) and the State-Trait Anxiety Inventory (STAI-S and STAI-T). Results: The maternal BDI, STAI-S, and STAI-T scores were 6.3 +/- 5.2, 36.1 +/- 11.2, and 39.9 +/- 8.8, respectively, in the control group. The maternal BDI, STAI-S, and STAI-T scores of the children who had experienced (19.2 +/- 9.7; 44.0 +/- 12.4; 47.9 +/- 10.6) and those who had not experienced (13.9 +/- 9.1; 40.7 +/- 8.6; 45.3 +/- 8.3) a crisis were significantly higher than for the controls. The BDI score was significantly higher for the mothers of children who had experienced a crisis (p=0.011), whereas no significant difference was determined between the two patient groups regarding STAI-S and STAI-T scores. The mothers of four children who had experienced metabolic crises were on antidepressant therapy. Conclusion: Although their children were on a similar restricted diet, the mothers of children who previously experienced or who had the risk of experiencing metabolic crises had higher depression scores as compared with the mothers of children who did not experience a previous crisis. Early supportive therapy may be required for the families of these patients to lower the burden of stress. (C) 2021 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.Öğe Identification of three novel mutations in fourteen patients with citrullinemia type 1(Pergamon-Elsevier Science Ltd, 2017) Kose, Engin; Unal, Ozlem; Bulbul, Selda; Gunduz, Mehmet; Haeberle, Johannes; Arslan, NurObjectives: Citrullinemia type 1 (CTLN1) is an autosomal recessive genetic disorder caused by mutations in the argininosuccinate synthetase 1 (ASST) gene, which encodes for the argininosuccinate synthetase enzyme. Here, we report genetic and clinical characterizations of 14 patients with citrullinemia type 1. Design & methods: The study group consisted of 14 patients (4 females, 10 males) diagnosed with citrullinemia type 1 from three centers in Turkey. Age of onset, clinical presentation, initial citrulline and ammonia levels, family history and molecular genetic analysis were retrospectively evaluated. Results: The mean age of the cohort and the mean age at the time of diagnosis were 483 +/- 36.5 months (min: 12 days, max: 10 years) and 11.6 +/- 26.2 months (min: 3 days, max: 8 years), respectively. In four patients, a homozygous p.Gly390Arg pathogenic variant was detected. All patients homozygous for p.Gly390Arg were diagnosed during the newborn period with the clinical presentation of classical citrullinemia. In each two patients, homozygous p.Arg86His, c.773 + 49C>T and p.Gly362Val pathogenic variants were detected. Clinical presentation was compatible with the mild form of the disease in patients homozygous for c.773 + 49C>T and for Gly362Val. Novel compound heterozygous genotypes (p.A1a164Pro/p.Gly390Arg; p.Leu290Pro/p.Gly390Arg; p.Thr389Pro/p.Gly390Arg) were identified in five patients. Of these, three siblings with CTLN1 were diagnosed with the compound heterozygous genotype p.A1a164Pro/p.Gly390Arg at the age of 4 days, 5 days and 2 years, respectively. The other two patients with novel compound heterozygous genotypes (p.Leu290Pro/p.Gly390Arg; p.Thr389Pro/p.Gly390Arg) were identified in the first month of life as neonatal onset form and were born to non-consanguineous parents. Conclusion: In our study, consistent with the literature, a correlation was found between homozygous p.Gly390Arg mutation and the classic neonatal onset form. Mild citrullinemia was detected in patients with c.773 + 49C>T or p.Gly362Val pathogenic variants. This study adds to our understanding of the molecular genetic background of patients with CTLN1, and allows to infer on the correlation between the genotype and phenotype of the disease. (C) 2017 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
