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    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, Nur
    Classical 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.
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    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.
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    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, Nur
    Objectives: 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.
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    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, Nur
    Objectives: 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.
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    Knowledge of Primary Care Physicians on Lysosomal Storage Disorders
    (2019) Köse, Engin; Bülbül, Selda; Arslan, Nur
    Aim: Since patients with lysosomal storage disorders (LSDs) often apply to primary care physicians initially, these doctors play a crucial role in the early diagnosis of LSDs. In this study, we aimed to determine the knowledge and awareness of primary care physicians regarding LSDs. Materials and Methods: We conducted a survey between January 2016 and April 2016 among primary care physicians from various regions of Turkey. Invitation e-mail was randomly sent to the individual e-mail address of each physician for a web-based survey. The questionnaire globally consisted of three sections with a total of 30 questions. In the first part of the survey, demographic characteristics of physicians (age, gender, career information) were recorded. The second section consisted of questions on LSDs for the evaluation of knowledge among physicians. In the third section of survey, questions were about the reasons of insufficient knowledge on LSDs and possible solutions to raise awareness. Results: A total of 261 primary care physicians [109 females (41.8%), mean age 40.1±8.8 years] were enrolled in the study. The mean working time was 14.9±8.6 years. Among the participants, 75.8% and 88.8% stated that they had never encountered an LSD patient before and never considered LSDs as a differential diagnosis for any patient, respectively. Fifteen percent of physicians stated that they had no idea about the clinical findings and symptoms of LSD. Another 26.2% of the participants stated that LSD is screened during the neonatal screening program in Turkey. Mean “total knowledge score” of the physicians was 13.47±5.85 points [median=15.0 (10.5-18.0)] out of 25. Six (2.3%) primary care physicians had a total score of “0”. Only 1 of them scored “25” points. Conclusion: Knowledge of primary care physicians on LSDs is not satisfactory in Turkey. Undergraduate medical education and postgraduate educations play a key role to raise awareness.