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    DHCR24-related desmosterolosis in the first reported Turkish patient: Expanding the genotypic and phenotypic spectrum
    (Elsevier Ltd, 2026) Kose, Canan Ceylan; Erdem, Fehime; Akcan, Mehmet Berkay; Yazıcı, Havva; Cokyaman, Turgay; Canda, Ebru Erbaş; Silan, Fatma
    BACKGROUND Desmosterolosis is a ultra-rare autosomal recessive disorder caused by biallelic variants in the DHCR24 gene, which encodes 3-beta-hydroxysterol delta-24-reductase—an enzyme involved in the final step of cholesterol biosynthesis. Here, we report a 3.5-year-old female with previously unreported compound heterozygous DHCR24 variants: c.1412A>G (p.Tyr471Cys), and c.275C>T (p.Thr92Met). CASE PRESENTATION The patient presented with agenesis of the corpus callosum, hypotonia, developmental delay, and dysmorphic facial features. METHOD AND RESULTS Trio-clinical exome sequencing confirmed the trans configuration of the variants. Plasma desmosterol levels were elevated >50-fold (134 ng/L; reference ?2.5 ng/L), supporting the diagnosis. In silico 3D protein modeling demonstrated structural alterations associated with both variants. CONCLUSION A review of reported cases revealed consistent findings of corpus callosum agenesis, developmental delay, and ocular abnormalities. Our case contributes to the limited body of literature on DHCR24 -related desmosterolosis and expands the variant spectrum, emphasizing the importance of integrating clinical, biochemical, and computational approaches in diagnosing rare metabolic disorders. © © 2025. Published by Elsevier Inc.
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    Infants' non-nutritive sucking habits and childhood obesity
    (OrtadogŸu Reklam Tanitim Yayincilik Turizm Egitim Insaat Sanayi ve Ticaret A.S., 2016) Kaymaz, Nazan; Yildirim, Şule; Cevizci, Sibel; Erdem, Fehime; Topalo?lu, Naci; Tekin, Mustafa; Binneto?lu, Fatih Köksal
    Objective:Habits formed in early childhood can affect future life. The aim of this study is to investigate whether prolonged non-nutritive sucking habits (pacifiers and finger sucking) during infancy increases the probability of childhood exogenous obesity causing a habit of high frequency of feeding. Material and Methods: A case-control study was conducted including children with exogenous obesity diagnosis and healthy controls. The study was performed with questionnaires completed by parents. Body mass index above the 95th percentile were evaluated as obese. Cases with endocrine, metabolic, or genetic causes of obesity, children with chronic illness other than obesity and children with obese family members were excluded. Results: 108 children (46 boys, 62 girls) with a mean age of 9.97 years and who met the criteria were assigned to the case group and 116 healthy children (55 boys, 61 girls) with a mean age of 10.02 years were assigned to the control group. In both case and control groups there was no statistically significant difference in mean body mass index levels on both duration of pacifier usage (Independent samples t test, p=0.496 and p=0.368, respectively) and finger sucking habit (Independent samples t test, p=0.319 and p=0.377, respectively). However, the number of the children finger sucking in the case group (n=50) was higher than in the control group (n=33) (46.3% vs. 28.4%, p=0.006). Conclusion: There was no association between pacifier usage in infancy with exogenous obesity in childhood but children who suck fingers are more likely to be obese in later life. © Copyright 2016 by Türkiye Klinikleri.
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    ISCHEMIA-MODIFIED ALBUMIN AS AN OXIDATIVE STRESS BIOMARKER IN OBESE CHILDREN
    (Nobel Ilac, 2015) Topaloglu, Naci; Yildirim, Sule; Tekin, Mustafa; Binnetoglu, Fatih Koksal; Cakir, Dilek Ulker; Erdem, Fehime; Cevizci, Sibel
    Objective: Ischemia modified albumin (IMA) is a marker that is considered as an oxidative stress biomarker. In this study we investigated the IMA levels, an oxidative stress marker, in obesity that leads to free radical formation, in children. Material and Method: Fifty obese and fifty normal weighted children as a control were included in the study. Blood samples were collected for biochemical parameters and serum IMA values. Results: Serum IMA levels were significantly higher in obese group than non-obese group (p<0.001). Median and minimum-maximum IMA values of obese and control groups were 930 (min: 673-max 1332) and 864 (min: 496-max: 1068) respectively. Conclusion: IMA may be used as an important marker to show oxidative stress in childhood obesity.