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Öğe Can the Gut Microbiota Serve as a Guide to the Diagnosis and Treatment of Childhood Epilepsy?(Elsevier Science Inc, 2023) Turay, Sevim; Cangur, Sengul; Kahraman, Gozde; Kayabasi, Eda; Cetiner, Omer Faruk; Aydin, Burak; Ozturk, Cihadiye ElifBackground: To investigate the activity of the gut-brain axis in the pathogenesis of childhood epilepsy and to define biomarkers capable of assisting with determining new strategies in that context. Methods: Twenty children with epilepsy of unknown etiology and seven healthy controls in the same age group were included in the study. The groups were compared using a questionnaire. Stool samples were stored in tubes containing DNA/RNA Shield (Zymo Research) with a sterile swab. Sequencing was carried out using the MiSeq System (Illumina). The 16S rRNA sequencing of samples using nextgeneration sequencing involved V4 variable region polymerase chain reaction amplification concluded by 2 x 250-bp paired-end sequencing of amplicons and at least 50,000 reads (>Q30) per sample. DNA sequences were classified at the genus level using the Kraken program. Bioinformatics and statistical analysis were then performed.Results: Individuals' gut microbiota relative abundance values differed between the groups at the genus, order, class, family, and phylum levels. Flavihumibacter, Niabella, Anoxybacillus, Brevundimonas, Devosia, and Delftia were seen only in the control group, whereas Megamonas and Coriobacterium were observed only in the epilepsy group. The linear discriminant analysis effect size method identified 33 taxa as important in differentiating the groups. Conclusions: We think that bacterial varieties (such as Megamonas and Coriobacterium) that differ be-tween the two groups can be employed as useful biomarkers in the diagnosis and follow-up of epileptic patients. We also predict that, in addition to epilepsy treatment protocols, the restoration of eubiotic microbiota may increase the success of treatment.& COPY; 2023 Elsevier Inc. All rights reserved.Öğe Effects of 12-month Antiepileptic Drug Use on Thyroid Functions in Children: A Retrospective Observational Study(Galenos Yayincilik, 2021) Hanci, Fatma; Turay, Sevim; Bala, Keziban Asli; Tunclar, Aslian; Dilek, Mustafa; Kabakus, NimetAim: The purpose of this study was to examine the effects of antiepileptics on thyroid function tests and to compare these effects among different antiepileptics. Materials and Methods: Two hundred and twenty patients (102 female and 118 male) aged 1-17 years indicated for antiepileptic drug (AED) therapy for epilepsy were enrolled in this study which was performed in a child neurology clinic between January 2014 and January 2018. Those patients using a single AED and with complete seizure control were included. In this study period, according to the local protocol, we measured free thyroxine (fT4) and thyroid-stimulating hormone (TSH) levels at the beginning of treatment and at the 12th month of AED therapy. Results: The mean age of the patients was 10.2 +/- 4.4 years. TSH elevation was observed in only eight patients. These eight patients' thyroid autoantibodies were negative and their thyroid ultrasonography were normal. Subclinical hypothyroidism (TSH: 5-10, fT4 normal) was present in three of these eight patients, and they were therefore not started on medication. The other five were started on L-thyroxine. Four of these were using valproic acid and one was using carbamazepine. We found no significant difference between TSH and fT4 levels measured before the start and at the 12th month of drug therapy, nor among the different AEDs used. Conclusion: AEDs have no marked effects on thyroid function, and may therefore be safely used from that perspective.Öğe Electroencephalogram Abnormalities and Epilepsy in Autism Spectrum Disorders: Clinical and Electroencephalogram Findings(Georg Thieme Verlag Kg, 2021) Hanci, Fatma; Turay, Sevim; Ozturk, Yusuf; Kabakus, NimetIt has been known for several decades that epilepsy and autism spectrum disorders (ASD) are related to each other. Epilepsy frequently accompanies ASD. The purpose of this study was to investigate relationship between clinical and electroencephalogram (EEG) findings in ASD patients and to identify EEG characteristics that may create a disposition to epilepsy in ASD by examining differences in clinical and EEG findings between patients diagnosed with ASD without epilepsy and ASD with epilepsy. A total of 102 patients aged 2 to 18 years and diagnosed with ASD based on Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) diagnostic criteria between January 2017 and June 2019 were included in the study. Patients were assigned into two groups: (1) ASD with epilepsy and (2) ASD without epilepsy. Clinical findings were retrieved from patients' files, and EEG findings from first EEG records in the EEG laboratory at the time of diagnosis. EEG findings were defined as central, parietal, frontal, temporal, or generalized, depending on the location of rhythmic discharges. The incidence of epilepsy in our ASD patients was 33.7% and that of febrile convulsion was 4%. Generalized motor seizures were the most common seizure type. Epileptic discharges most commonly derived from the central and frontal regions. These abnormalities, especially frontal and central rhythmic discharges, may represent a precursor for the development of epilepsy in ASD patients.Öğe Epilepsy and drug-resistant epilepsy in children with cerebral palsy: A retrospective observational study(Academic Press Inc Elsevier Science, 2020) Hanci, Fatma; Turay, Sevim; Dilek, Mustafa; Kabakus, NimetPurpose: The objective of this study was to determine risk factors for epilepsy and drug-resistant epilepsy (DRE) development in children with cerebral palsy. Method: Two hundred twenty-nine patients presenting to the pediatric neurology clinic and diagnosed as having cerebral palsy between November 2016 and November 2019 were included in the study. Medical histories and clinical, laboratory, and radiological findings were examined retrospectively from patient records in the hospital data system. Results: Girls represented 103 patients (45%) and boys 126 (55%). The patients' mean age was 8.39 +/- 4.54 years. Epileptic seizures were present in 120 (52.4%) patients and drug-resistant seizures in 64 (27.9%). The risk of epilepsy was significantly higher in patients with motor or speech impairment, with hearing impairment, or undergoing first seizure in the neonatal period. We also observed a higher risk of epilepsy in patients with psychiatric comorbidity, particularly autism spectrum disorder. The risk of epilepsy was also higher in patients with microcephaly or quadriplegic cerebral palsy and in patients with focal and generalized epileptiform abnormality on electroencephalograms (EEGs). However, no significant difference was identified when all these factors were evaluated in terms of the risk of developing DRE. Conclusion: Patients with cerebral palsy have high comorbid epilepsy rates. We think that the risk of epilepsy may be higher in patients undergoing first seizure in the neonatal period, with microcephaly, with quadriplegic type cerebral palsy, and with additional psychiatric comorbidity. The rate of DRE development was very low in patients with normal EEG findings or with only background rhythm abnormalities on first EEGs during neonatal seizures. This may be regarded as a good prognostic factor for nondevelopment of DRE. (C) 2020 Elsevier Inc. All rights reserved.Öğe Heightened Serum Mitochondrial Biomarkers; FGF21 and NOS in Pediatric Anemia and a Negative Correlation between GDF15 and Serum Ferritin(Mdpi, 2024) Cakmak, Hatice Mine; Alpay, Merve; Mahdizadeh, Cansu; Ozalp, Seray Cevikel; Turay, Sevim; Ozde, Sukriye; Kocabay, KenanObjective: Mitochondrial dysfunction is closely linked to chronic disorders. This study aims to explore the correlation between pediatric anemia and mitochondrial markers, specifically fibroblast growth factor 21 (FGF21), growth/differentiation factor 15 (GDF-15), and nitric oxide synthase (eNOS). Method: This study included 66 children, with 34 diagnosed with anemia and 32 in the healthy control group. Statistically significant biomarkers were determined through cutoff levels. Results: Among the participants, 34 children were classified as anemic, while 32 were categorized as healthy. The study revealed that FGF21 levels >= 0.745 pg/mL and eNOS levels >= 1.265 mu g/mL predicted anemia. Hemoglobin levels exhibited a negative correlation with FGF21 (r = -0.381; p = 0.002) and eNOS levels (r = -0.462; p < 0.001). Furthermore, a significant negative correlation was observed between GDF-15 and ferritin (r = -0.311; p = 0.019), while eNOS levels correlated positively with folate (r = 0.313; p = 0.019). Conclusions: Anemia induced elevated mitochondrial biomarkers; FGF21 and eNOS levels. The findings suggest that the long-term ramifications of anemia in childhood may be associated with mitochondrial dysfunction.Öğe Mitochondrial metabolism related markers GDF-15, FGF-21, and HIF-1a are elevated in pediatric migraine attacks(Wiley, 2023) Kilinc, Yasemin Baranoglu; Kilinc, Erkan; Danis, Aysegul; Hanci, Fatma; Turay, Sevim; Ozge, Aynur; Bolay, HayrunnisaObjective: The purpose of this study was to investigate the serum levels of mitochon-drial metabolism/reactive oxygen species (ROS)- related peptides (hypoxia induc-ible factor- 1a [HIF- 1a], fibroblast growth factor -21 [FGF- 21], growth differentiation factor -15 [GDF- 15]) and key migraine- related neuropeptides (calcitonin gene- related peptide [CGRP], pituitary adenylate cyclase- activating peptide -38 [PACAP- 38], sub-stance P [SP], and vasoactive intestinal peptide [VIP]) during migraine attacks and to evaluate their diagnostic value in pediatric migraine.Background: There is increasing evidence for the important role of impairment in oxidative mitochondrial metabolism in the pathophysiology of migraine. Potential biomarkers that may reflect the relationship between migraine and mitochondrial dysfunction are unclear.Methods: A total of 68 female pediatric migraine patients without aura and 20 fe -male healthy controls aged 8- 18 years, admitted to the hospital, were enrolled in this cross- sectional study. Serum concentrations of these molecules were determined by enzyme- linked immunosorbent assays, and clinical features and their possible diag-nostic value were analyzed.Results: Serum levels of HIF- 1a (252.4 +/- 51.9 [mean +/- standard deviation]) pg/mL), GDF- 15 (233.7 +/- 24.7 pg/mL), FGF- 21 (96.1 +/- 13.1 pg/mL), CGRP (44.5 +/- 11.3), and PACAP- 38 (504.7 +/- 128.9) were significantly higher in migraine patients compared to healthy controls (199.8 +/- 26.8, 192.8 +/- 20.7, 79.3 +/- 4.1, 34.1 +/- 3.5 and 361.2 +/- 86.3 pg/ mL, respectively). The serum levels of these peptides were also higher in patients with chronic migraine than in patients with episodic migraine, and higher in the ictal period than in the interictal period. A positive correlation was found between attack frequency and both HIF- 1a and FGF- 21 levels in migraine patients. Serum levels of VIP and SP were not different between the migraine patients and healthy controls.Conclusion: Migraine attacks are accompanied by elevated HIF- 1a, FGF- 21, GDF- 15, CGRP, and PACAP- 38 in medication -naive pediatric patients with migraine. Elevated circulating mitochondrial metabolism/ROS-related peptides suggest a mitochondrial stress in pediatric migraine attacks and may have potential diagnostic value in monitoring disease progression and treatment response in children. Novel approaches intervening with mitochondrial metabolism need to be investigated.Öğe Myoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21.32 Chromosomal Regions(Coll Physicians & Surgeons Pakistan, 2022) Turay, Sevim; Eröz, Recep; Karagün, EbruCopy number variants have been increasing due to a rise in the availability of array comparative genomic hybridisation, which occupies an important place in diagnosis, especially in patients with epilepsy, dysmorphic findings, and intellectual disability. We detected 2q13 chromosomal duplication and 6p21.32 chromosomal deletion in a patient under follow-up due to epilepsy, developmental retardation, dysmorphic findings, and asymmetric overgrowth in our clinic since the age of six months. The parents had only 2q13 mutations. Copy number variation in 2q13 is associated with dysmorphic findings, psychiatric disorders, and developmental delays. However, the exact pathogenicity is not yet known. We think that 6p21.32 chromosomal deletion caused resistant epilepsy and lipodystrophy in this patient. We anticipate that this case will contribute to the literature by linking disorders caused by the current chromosomal abnormality to clinical findings.Öğe A novel pathogenic variant in the 3MODIFIER LETTER PRIME end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?(Springer, 2021) Turay, Sevim; Eroz, Recep; Basak, A. NazliChildhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a recently described form of the large group of infantile hereditary lower motor neuron diseases (Teoh et al. 2017), resulting from biallelic damaging variants in the AGTPBP1 gene, first described by Shashi et al. in EMBO J 37(23):e100540, 2018. AGTPBP-related neurodegeneration is a severe neurodevelopmental disorder that progresses with global developmental delay and intellectual disability, often accompanied with peripheral nerve damage and lower motor degeneration and a fatal course in the early years of life. The encoded protein is ATP/GTP-Binding Protein1, also known as cytosolic carboxypeptidase 1 (CCP1) or nervous system nuclear protein induced by axotomy (NNA1). Here we report a consanguineous family with four offspring, two of whom are affected. The index patient is a 21-month-old male with global developmental delay and hypotonia. The proband's 17-year-old sister, diagnosed with cerebral palsy, had severe hypotonia accompanied by motor and cognitive retardation. WES analysis revealed a novel homozygous c.3293G > A variant in the AGTPBP1 gene with high pathogenicity scores. Targeted Sanger sequencing confirmed the variant in both affected children and in heterozygous form in the parents. The affected siblings present with hypotonia and motor and cognitive retardation, in line with the studies previously reported. However, in our patients, no signs of cerebellar atrophy in cranial MRI were present, so the acronym CONDCA is not applicable; lower motor neuron findings were also absent. The matching and distinguishing aspects of our patients will add to the present literature and expand our understanding of this rare genetic neurodegenerative disease of early childhood.Öğe Reflex Epilepsy with Hot Water: Clinical and EEG Findings, Treatment, and Prognosis in Childhood(Georg Thieme Verlag Kg, 2020) Hanci, Fatma; Turay, Sevim; Balci, Pasa; Kabakus, NimetHot water epilepsy (HWE) is a subtype of reflex epilepsy in which seizures are triggered by the head being immersed in hot water. Hot water or bathing epilepsy is the type of reflex epilepsy most frequently encountered in our clinic. We describe our patients with HWE and also discuss the clinical features, therapeutic approaches, and prognosis. Eleven patients (10 boys, 1 girl), aged 12 months to 13 years, admitted to the pediatric neurology clinic between January 2018 and August 2019, and diagnosed with HWE or bathing epilepsy based on International League Against Epilepsy (ILAE)-2017, were followed up prospectively for similar to 18 months. Patients' clinical and electroencephalography (EEG) findings and treatment details were noted. All 11 patients' seizures were triggered by hot water. Age at first seizure was between 2 months and 12 years. Seizure types were generalized motor seizures, absence, and atonic. EEG was normal in two patients, but nine patients had epileptiform discharges. Magnetic resonance imaging of the brain was performed and reported as normal (except in one case). Histories of prematurity were present in two patients, unprovoked seizures in one, and low birth weight and depressed birth in the other. Patients with HWE have normal neuromuscular development and neurological examination results, together with prophylaxis or seizure control with a single antiepileptic drug, suggesting that it is a self-limited reflex epilepsy.Öğe Refugee and asylum-seeker children and health problems in the city of Duzce, Turkiye(Wiley, 2024) Cakmak, Hatice Mine; Kocabay, Kenan; Temizkan, Ramazan Cahit; Turay, Sevim; Ozde, Sukriye; Kurt, Fatih; Sav, Nadide MelikeIntroduction: This study examines the health problems and healthcare needs of refugee and asylum-seeker children and aims to develop strategies for improvement. Methods: Based on quantitative data from 448 refugee and asylum-seeker children and 222 non-refugee local children, this study was conducted at D & uuml;zce University, Department of Paediatrics, between 2010 and 2021. The refugee children originated from three countries: Iraq (n = 304), Syria (n = 101) and Afghanistan (n = 43). The data were analysed using the SPSS data analysis program. Ethical clearance was obtained from the Ethics Committee of Duzce University. Results: The results suggest that refugee and asylum-seeker children have significantly higher rates of acute illness or infection, malnutrition (p < 0.001) and anaemia (p < 0.001) than local children as a result of living in overcrowded families (p = 0.017) and unhealthy conditions. Adolescent pregnancy (p = 0.049) emerges as an important social problem as a result of child marriage among refugee children, mostly in the form of consanguineous marriages (p < 0.001). The rate of having at least two adolescent pregnancies (under 18) was highest among Syrian refugee girls (p = 0.01). Although refugee and asylum-seeker children have higher rates of health insurance (between 74% and 95%), they have lower rates of insurance compared to local children. This research also compares the data from three nationalities, including Syria, Afghanistan and Iraq children; Iraqi and Afghan children under the international protection (IP) system with limited social support and rights had worse health conditions compared to other groups. Although Iraqi children had the highest rates of health insurance on admission (p < 0.001), they also had higher rates of chronic diseases (p = 0.001), infections (p = 0.004), allergic rhinitis (p = 0.001) and malnutrition (p < 0.001). The youngest age of admission (p = 0.006) and the shortest length of stay (p = 0.004) were for Afghan children who also had higher rates of upper respiratory infections (p = 0.021). Conclusions: This study highlights the urgent need for improved screening programmes and the importance of collaborative efforts to address the specific health needs of these populations. Addressing the health status of child refugees is a complex and multifaceted task that requires the active participation of healthcare professionals, policymakers and researchers, each of whom has a crucial role to play.Öğe White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations(Springer Heidelberg, 2021) Turay, Sevim; Eroz, RecepThe purpose of this study is to reveal the effect on the clinical phenotype of variants detected at family examination of a case of combined pogo transposable element derived with zinc finger domain (POGZ) gene, tubulin folding cofactor E (TBCE) gene, and short stature homeobox (SHOX) gene variation. A Turkish non-consanguineous family consisting of five members was investigated. Whole exome sequence analysis and chromosomal microarray analysis (CMA) were performed for a 2-year-old male patient (the proband) with global developmental delay, hypotonia, dysmorphia, and hot water epilepsy. Targeted sequence and chromosomal microarray analyses were performed for each family member. A heterozygous c.3908_3911delTCTG/p.V1303fs*6 variant was detected in the POGZ gene and a heterozygous c.626 T > G(p.L209X) variant in the TBCE gene in the proband. In addition, a gain of 0.1 MB was detected in the Xp22.33(602488-733497) x 3/Yp11.32(552488-683497) x 3 region at CMA. The SHOX (312865) gene defined in Online Mendelian Inheritance in Man is located in this region. While the proband's father and brother had heterozygous variations only in the TBCE gene, neither TBCE nor POGZ mutations were detected in the mother or sister. A gain in Xp22.33(419224-883640) x 3 was detected in the mother at CMA. Except for short stature and Madelung deformity, no phenotypical findings were detected in the mother. Other family members were also phenotypically normal. The family screening confirmed that dysmorphic findings and global developmental delay in the proband resulted from the variation in the POGZ gene, while short stature was caused by the gain in the Xp22.33(602488-733497) x 3/Yp11.32(552488-683497) x 3 region. In addition, the pathogenic POGZ gene variation in our patient may be a possible cause of hot water epilepsy. Heterozygous variation in the TBCE gene was clinically insignificant. Hot water epilepsy has not previously been reported in the rare patients with POGZ gene mutation. Additionally, in contrast to the previous literature, the proband exhibited no features of autism. It should also be remembered that posterior fossa abnormalities are frequently seen in these patients. We think that this case and family review involving POGZ and SHOX gene mutations will make a useful contribution to the existing literature.
