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Öğe Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey(Walter De Gruyter Gmbh, 2019) Kisa, Pelin Teke; Kose, Melis; Unal, Ozlem; Er, Esra; Hismi, Burcu Ozturk; Bulbul, Fatma Selda; Arslan, NurClassical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program. The median age at first symptom was 10 days (range 5-20), while the median age at diagnosis was 30 days (range 17-53). Nearly half of the patients (36 patients, 47.4%) were diagnosed later than age 1 month. Fifty-eight individuals were found to have 18 different pathogenic variants in their 116 mutant alleles. In our sample, Q188R variant has the highest frequency with 53%, the other half of the allele frequency of the patients showed 17 different genotypes. Despite presenting with typical clinical manifestations, classical galactosemia patients are diagnosed late in Turkey. Due to the geographical location of our country, different pathogenic GALT variants may be seen in Turkish patients. In the present study, a clear genotype-phenotype correlation could not be established in patients.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 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.Öğe 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, AliWe 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.Öğe Turkish Validation of the PICCOLO (Parenting Interactions with Children: Checklist of Observations Linked to Outcomes)(Wiley, 2013) Bayoglu, Birgul; Unal, Ozlem; Elibol, Fatma; Karabulut, Erdem; Innocenti, Mark S.Early positive parent-child interactions are important for child development. Intervention research focused on increasing positive parent-child interactions has demonstrated increases in desired parenting behaviors and improvements in child outcomes. Parent-child interaction research in Turkey has been limited because of the need for reliable and valid measures of parent-child interaction. The aim of this study was to explore the validity and reliability of a Turkish version of a psychometrically strong measure of parent-child interaction that was developed in the United States: the Parenting Interactions with Children: Checklist of Observations Linked to Outcomes (PICCOLO). Mother-child interactions during a free-play situation were scored using the Turkish translation of the PICCOLO. The Turkish PICCOLO demonstrated good reliability and validity; as good as that demonstrated in the original English-language PICCOLO psychometric study. The Turkish PICCOLO meets the criteria established for a tool that will facilitate parent-child interaction research in Turkeyand appears to be practical and functional in evaluating the quality of parent-child interaction.
