Browsing by Author "Sangun, Ozlem"

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Case Report First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature
(2021) Orgun, Leman Tekin; Besen, Seyda; Sangun, Ozlem; Bisgin, Atil; Alkan, Ozlem; Erol, Ilknur
Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case has been reported until now. Herein, we review the clinical and radiological features of all AR- PFBC patients with biallelic variants in the MYORG gene who were reported until now, and we report the youngest patient who has a novel homozygous variant. Since the first identification of the MYORG gene in 2018, 74cases of MYORG variants related to AR-PFBC were evaluated. The ages of symptom onset of the patients ranged between 7.5 and 87 years. The most frequent clinical courses were speech impairment, movement disorder and cerebellar signs. All patients showed basal ganglia calcification usually bilaterally with different severities. Conclusion; herein, we reported the first pediatric patient in the literature who had a novel homozygous variant in the MYORG gene with mild clinic findings. (c) 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
The Effects of Electromagnetic Field on the Endocrine System in Children and Adolescents
(2015) Sangun, Ozlem; Dundar, Bumin; Comlekci, Selcuk; Buyukgebiz, Attila; 0000-0002-9079-4574; 26841641; C-3882-2008
Children are exposed to various kind of non-ionizan radiation in their daily life involuntarily. The potential sensitivity of developing organism to the effects of radiofrequency (RF) signals, the higher estimated specific absorption rate (SAR) values of children and greater lifetime cumulative risk raised the scientific interest for children's vulnerability to electromagnetic fields (EMFs). In modern societies, children are being exposed to EMFs in very early ages. There are many researches in scientific literature investigating the alterations of biological parameters in living organisms after EMFs. Although the international guidelines did not report definite, convincing data about the causality, there are unignorable amount of studies indicating the increased risk of cancer, hematologic effects and cognitive impairment. Although they are less in amount; growing number of studies reveal the impacts on metabolism and endocrine function. Reproductive system and growth look like the most challenging fields. However there are also some concerns on detrimental effects of EMFs on thyroid functions, adrenal hormones, glucose homeostasis and melatonin levels. It is not easy to conduct a study investigating the effects of EMFs on a fetus or child due to ethical issues. Hence, the studies are usually performed on virtual models or animals. Although the results are conflicting and cannot be totally matched with humans; there is growing evidence to distress us about the threats of EMF On children.
The Effects of Six-Month L-Thyroxine Treatment on Cognitive Functions and Event-Related Brain Potentials in Children with Subclinical Hypothyroidism
(2015) Sangun, Ozlem; Demirci, Serpil; Dundar, Nihal; Pirgon, Ozgur; Koca, Tugba; Dogan, Melike; Dundar, Bumin; 26316431
Objective: The aim of this study was to investigate the cognitive status of children with subclinical hypothyroidism (SH) before and after L-thyroxine (L-T4) treatment using event-related potentials (ERPs) and neuropsychological tests. Methods: This prospective study was conducted on a series of 20 children with mild SH (free T4 normal and thyroid-stimulating hormone level within 5-10 mu IU/L) who underwent clinical and cognitive assessment before L-T4 treatment and 6 months afterwards. The recordings of ERPs were done at the time of diagnosis and after 6 months of euthyroid state. Neuropsychiatric tests for attention, perception, close and remote memory were performed on all patients and on the control group which consisted of 20 healthy children of normal intelligence. Results: While pretreatment verbal memory (VM) and verbal recall (VR) scores of the SH group were significantly lower than those of the control group (p=0.004 and 0.012, respectively), no significant differences between the post-treatment and control groups were found in these scores after 6 months of L-T4 treatment. Post-treatment VM and VR scores were significantly higher than the pretreatment scores in the SH group (p=0.008 and p=0.0001). There were no significant differences between the pre- and post-treatment values of electrophysiological evaluation in N1, P2, P3 latencies or P3 amplitude (p>0.05), although there was a significant decrease in N2 latency in the post-treatment group (p=0.03). Conclusion: SH affects cognition in children and L-T4 replacement therapy leads to normalization of cognitive functions. Neuropsychological tests can be used as complementary measures in the evaluation of children with SH. Determining the association between ERPs and SH would contribute to the comprehensive evaluation of these children.
Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study
(2019) Akinci, Aysehan; Turkkahraman, Doga; Tekedereli, Ibrahim; Ozer, Leyla; Evren, Bahri; Sahin, Ibrahim; Kalkan, Tarkan; Curek, Yusuf; Camtosun, Emine; Doger, Esra; Bideci, Aysun; Guven, Ayla; Eren, Erdal; Sangun, Ozlem; Cayir, Atilla; Bilir, Pelin; Ergur, Ayca Torel; Ercan, Oya; 30991789
Objective: Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with nonsyndromic early onset severe obesity. Methods: Children with severe (body mass index-standard deviation score >3) and early onset (<7 years) obesity were screened by next-generation sequencing based, targeted DNA custom panel for 41 known-obesity-related genes and the results were confirmed by Sanger technique. Results: Six novel variants were identified in five candidate genes in seven out of 105 children with severe obesity; two in SIM1 (p.W306C and p.Q36X), one in POMC (p.Y160H), one in PCSK1 (p.W130G fs Ter8), two in MC4R (p.D126E) and one in LEPR (p.Q4H). Additionally, two previously known variations in MC4R were identified in four patients (p.R165W in three, and p.V166I in one). Conclusion: We identified six novel and four previously described variants in six obesity-related genes in 11 out of 105 childrens with early onset severe obesity. The prevalence of monogenic obesity was 10.4% in our cohort.
Two Patients with Resistance to Thyroid Hormones
(2016) Cakir, Esra Deniz Papatya; Gorukmez, Orhan; Ucakturk, Seyit Ahmet; Kibar, Ayse Esin; Sangun, Ozlem; Erdem, Sevcan; Ozen, Samim