Person: TÜRKDOĞAN, DİLŞAD
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TÜRKDOĞAN
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DİLŞAD
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Publication Metadata only Lipid peroxidation and antioxidative enzyme activities in childhood epilepsy(B C DECKER INC, 2002) TÜRKDOĞAN, DİLŞAD; Turkdogan, D; Toplan, S; Karakoc, YThis study aimed to investigate the relationship among lipid peroxidation, subsequent activation of scavenger enzymes (superoxide dismutase and glutathione peroxidase), and the presence of structural abnormality in 52 epileptic children receiving monotherapy (medically responsive) or polytherapy (medically intractable). Plasma lipid peroxidation in epileptic patients with abnormal magnetic resonance imaging (MRI) findings significantly increased as compared with that of 16 healthy children (P<.05), whereas antioxidant enzymes were not significantly affected. Both medically controlled and intractable children with normal MRI had higher activities of superoxide dismutase than those of controls (P<.05). The activity of superoxide dismutase in epileptic patients with structural abnormality did not significantly change as compared with controls. Activity of glutathione peroxidase in all of the epileptic children was not significantly different from controls. The activity of antioxidant enzymes or plasma malonyldialdehyde levels did not correlate with duration of epilepsy, frequency of seizures (> one seizure per month or not), and the presence or localization (focal, multifocal, or generalized) of electroencephalographic or MRI abnormalities. Increased plasma lipid peroxidation may be causally related to the presence of structural abnormality rather than ongoing epileptic activity or therapy status.Publication Metadata only How do presentation age and CSF opening pressure level affect long-term prognosis of pseudotumor cerebri syndrome in children? Experience of a single tertiary clinic(Springer Science and Business Media Deutschland GmbH, 2021) DAĞÇINAR, ADNAN; Ozturk G., Turkdogan D., Unver O., Dericioglu V., Aslan B., Dagcinar A.Background: Diagnosis and treatment of pseudotumor cerebri syndrome in children is still a challenge for clinicians. The aim of this study is to reveal the influence of presentation age and CSF opening pressure on long-term prognosis of pseudotumor cerebri and share our clinical data of the very young age (≤ 5-year) group. Method: This retrospective study includes the patients followed by the Marmara University Pediatric Neurology Clinic between years 2012 and 2020 diagnosed with definite, probable, or suggestive pseudotumor cerebri syndrome according to modified Friedman criteria. Patients were classified into three groups according to presentation age: group 1: ≤ 5 years old; group 2: 6–10 years; and group 3 > 10 years old. CSF opening pressure was also categorized into three groups as CSF < 20 cmH20; CSF 20–30 cmH20; and CSF > 30 cmH20. Results: One hundred three patients, 62.1% female (n = 64), were enrolled in the study. Group 1 consisted of 16 patients (60% male), group 2 consisted of 30 patients (63.3% female), and group 3 consisted of 57 patients (66.7% female). The mean CSF opening pressure did not differ between the three age groups in our study (p > 0.05). Treatment response was not correlated with CSF opening pressure. Papilledema presence and level of CSF opening pressure were independent of age (p > 0.05). Conclusions: Age at presentation and CSF opening pressure at diagnosis are not any predictive factors that influence long-term prognosis of pseudotumor cerebri syndrome in children. Evaluation and follow-up of children should be done in personalized approach. © 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Publication Metadata only Characteristic and overlapping features of migraine and tension-type headache(WILEY, 2006) TÜRKDOĞAN, DİLŞAD; Turkdogan, D; Cagirici, S; Soylemez, D; Sur, H; Bilge, C; Turk, UObjective.-This epidemiological survey was conducted to investigate comprehensive characteristic and overlapping features of migraine and tension-type headache (TTH) disorders classified based on International Classification of Headache Disorders-II. Methods.-The stratified cohort of this study was composed of 2504 schoolchildren aged 10 to 17 years. A 38-item questionnaire inquiring all characteristic features of primary headache syndromes mandatory for classification was applied to selected 483 children with recurrent headache in the last 6 months. Results.-Migraine was diagnosed in 227 (47.0%) of 483 children and TTH in 154 (31.9%). Out of 125 children with definite migraine, 73 (58.4%) reported tension-type symptoms and 94 (68.1%) of 138 children with definite TTH reported migraine-type symptoms. Pressing pain (21%) and lack of aggravation of pain by physical activity (34%) were the major tension-type features in patients with migraine. Throbbing quality (43%) and aggravation by physical activity (30%) determined the main migraine-type features in patients with TTH. Conclusion.-The frequent co-occurrence of migraine and TTH symptoms suggests the presence of a common pathogenesis.Publication Metadata only Normative data of sympathetic skin response and RR interval variation in Turkish children(1999) TÜRKDOĞAN, DİLŞAD; Akyüz, G.; Türkdoğan-Sözüer, D.; Turan, B.; Canbolat, N.; Yilmaz, I.; Us, O.; Kayhan, O.Sympathetic skin response (SSR) and RR interval variation (RRIV) are used commonly for the assessment of sympathetic and parasympathetic nervous system function, respectively. We determined the normal values of SSR and RRIV in 23 (14 females, nine males) Turkish children aged 5 to 14 (mean 9.86, SD 2.48) years. SSR was recorded on the hands and feet during the electrical stimulation of both median and posterior tibial nerves, respectively. Similar response was elicited on both feet during the stimulation of the right median nerve. RRIV testing was performed during rest on the supine position and deep inspiration at a frequency of 6 times/min. The SSR was elicited in all children. The mean SSR latencies recorded on the feet during the stimulation of median or posterior tibial nerve were significantly more prolonged than those recorded at the hands (P < 0.001). There was no significant difference between the mean latencies of SSR recorded at the ipsilateral and contralateral palms or soles. The mean latencies recorded at the sole during stimulation of the median nerve were not significantly different compared to those that recorded at the sole during the posterior tibial nerve (P > 0.05). The SSR amplitudes were not assessed because of great variability and rapid habituation. The mean RRIV (46.54+/-11.29%) during deep breathing was significantly increased as compared to that (35.90+/-10.63%) during rest (P < 0.003). As a result, SSR and RRIV are preferred non-invasive tests for evaluation of autonomic nervous system in children. The SSR is useful and reliable if it is obtained in the optimum technical conditions. Further research is necessary to establish strict criteria for abnormality.Publication Metadata only Glial fibrillary acidic protein (GFAP)-antibody in children with focal seizures of undetermined cause(SPRINGER HEIDELBERG, 2021) TÜRKDOĞAN, DİLŞAD; Savas, Merve; Tzartos, John; Kucukali, Cem Ismail; Dursun, Erdinc; Karagiorgou, Katerina; Gezen-Ak, Duygu; Turkdogan, Dilsad; Papaconstantinou, Aliki; Basoglu, Sezin; Hacihafizoglu, Nilufer; Kutlubay, Busra; Tzartos, Socrates; Tuzun, ErdemAnti-neuronal antibodies that are related with autoimmune encephalitis syndromes may also be found in children with new onset seizures or chronic epilepsy. To unravel the significance of autoimmune astrocytopathy in epilepsy, we investigated serum antibody to glial fibrillary acidic protein (GFAP), another autoantigen described in autoimmune encephalitis with seizures, in 38 children with focal seizures of undetermined cause. GFAP antibody was screened with cell based assay and indirect immunohistochemistry and was found in two boys with normal brain MRI and unrevealing medical history prior to seizures. The 2-year-old boy had chronic treatment-resistant frontal lobe epilepsy. The 2.5-year-old boy had a single episode of focal seizures and remained seizure free thereafter in a follow-up period of 4 years. Nevertheless, he showed severe cognitive and language impairment. These results suggest that autoimmune astrocytopathy may be present in some epilepsy patients. Whether this immune response is a bystander effect generated by seizure-induced astrocytosis or directly involved in epileptogenesis needs to be further studied.Publication Metadata only The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study(PERGAMON-ELSEVIER SCIENCE LTD, 2016) TÜRKDOĞAN, DİLŞAD; Unver, Olcay; Hacifazlioglu, Nilufer Eldes; Karatoprak, Elif; Gunes, Ayfer Sakarya; Sager, Gunes; Kutlubay, Busra; Sozen, Gulhan; Saltik, Sema; Yilmaz, Kutluhan; Kara, Bulent; Turkdogan, DilsadThe aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid alpha-glucosidase (GAA) activity Was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis. The overall frequency of late-onset Pompe disease in the study population was 4.2%. The c.1784C>T mutation found in one patient is a new mutation whereas the c.1655T>C mutation detected in the other two patients is not novel. In conclusion, Pompe disease should be suspected in patients with limb-girdle muscle weakness and nonspecific hyperCKemia. The DBS test is a safe and reliable method of diagnosis but must be confirmed by genetic analysis. In patients with a positive DBS test and negative genetic analysis, tissue assay of GAA should be considered. (C) 2016 Published by Elsevier B.V.Publication Metadata only A prevalence study of restless legs syndrome in Turkish children and adolescents(ELSEVIER, 2011) TÜRKDOĞAN, DİLŞAD; Turkdogan, Dilsad; Bekiroglu, Nural; Zaimoglu, SennurObjective: To determine the prevalence of restless legs syndrome (RLS) in Turkish school children and adolescents during the past 12 months. Methods: A cross-sectional population study conducted in three primary and four high schools was randomly selected in the Umraniye district of Istanbul. In the first step, a 7-item questionnaire including pediatric diagnostic criteria of RLS proposed by the International Restless Legs Study Group was given to 4346 students aged from 10 to 19 years in the classroom. Candidates for definite RLS or probable RLS were selected by a face-to-face interview done by an expert. In the second step, a 58-item questionnaire was administered to the families of the selected subjects. The questionnaire aimed to survey family history, parent's awareness, and their behaviors for seeking treatment, as well as the differential diagnosis and comorbid disorders of RLS. Results: Definite RLS was diagnosed in 119 (2.74%) of the subjects and was more prevalent in females (3.42%) compared to males (2.04%) (p = 0.007). A family history of RLS was positive in 15.8% of the first-degree relatives of those 119 subjects. Less than half of the parents (45%) were aware of their children's symptoms and only 10.9% of these parents consulted medical centers. The most prevalent symptoms of sleep disturbances were restless sleep (28.6%) and daytime sleepiness (21%). Growing pains were reported in 54.5% of the 119 subjects with definite RLS. Symptoms of Attention-Deficit/Hyperactivity Disorder were found in 15.3% of the 119 subjects. Conclusions: RLS is prevalent in Turkish children and adolescents although family awareness of RLS is relatively low. (C) 2011 Elsevier B.V. All rights reserved.Publication Metadata only Auditory neuropathy in hyperbilirubinemia: Is there a correlation between serum bilirubin, neuron-specific enolase levels and auditory neuropathy?(TAYLOR & FRANCIS LTD, 2004) TÜRKDOĞAN, DİLŞAD; Akman, I; Ozek, E; Kulekci, S; Turkdogan, D; Cebeci, D; Akdas, FThis study evaluated whether a correlation exists between increased serum bilirubin and neuron-specific enolase (NSE) assays (a biochemical index of neuronal damage) and auditory neuropathy. Nineteen term neonates without hemolysis whose serum bilirubin levels were above 20 mg/dl and 27 healthy term newborns with bilirubin levels <13 mg/dl were included in the study. Auditory brainstem responses (ABRs) and transient evoked otoacoustic emissions (TEOAEs) of patients with hyperbilirubinemia were obtained before discharge. This preliminary study did not show any correlation between the serum NSE and bilirubin values. However, infants who had auditory neuropathy had significantly higher NSE levels, and thus these patients, being in the high-risk group, need close follow-up.Publication Metadata only Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies(WILEY, 2012) TÜRKDOĞAN, DİLŞAD; Leu, Costin; de Kovel, Carolien G. F.; Zara, Federico; Striano, Pasquale; Pezzella, Marianna; Robbiano, Angela; Bianchi, Amedeo; Bisulli, Francesca; Coppola, Antonietta; Giallonardo, Anna Teresa; Beccaria, Francesca; Trenite, Dorothee Kasteleijn-Nolst; Lindhout, Dick; Gaus, Verena; Schmitz, Bettina; Janz, Dieter; Weber, Yvonne G.; Becker, Felicitas; Lerche, Holger; Kleefuss-Lie, Ailing A.; Hallman, Kerstin; Kunz, Wolfram S.; Elger, Christian E.; Muhle, Hiltrud; Stephani, Ulrich; Moller, Rikke S.; Hjalgrim, Helle; Mullen, Saul; Scheffer, Ingrid E.; Berkovic, Samuel F.; Everett, Kate V.; Gardiner, Mark R.; Marini, Carla; Guerrini, Renzo; Lehesjoki, Anna-Elina; Siren, Auli; Nabbout, Rima; Baulac, Stephanie; Leguern, Eric; Serratosa, Jose M.; Rosenow, Felix; Feucht, Martha; Unterberger, Iris; Covanis, Athanasios; Suls, Arvid; Weckhuysen, Sarah; Kaneva, Radka; Caglayan, Hande; Turkdogan, Dilsad; Baykan, Betul; Bebek, Nerses; Ozbek, Ugur; Hempelmann, Anne; Schulz, Herbert; Rueschendorf, Franz; Trucks, Holger; Nuernberg, Peter; Avanzini, Giuliano; Koeleman, Bobby P. C.; Sander, ThomasPurpose: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure typerelated genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively. Methods: Meta-analysis of three genome-wide linkage datasets was carried out in 379 GGE-multiplex families of European ancestry including 982 relatives with GGEs. To dissect out seizure type-related susceptibility genes, two family subgroups were stratified comprising 235 families with predominantly genetic absence epilepsies (GAEs) and 118 families with an aggregation of juvenile myoclonic epilepsy (JME). To map shared and seizure type-related susceptibility loci, both nonparametric loci (NPL) and parametric linkage analyses were performed for a broad trait model (GGEs) in the entire set of GGE-multiplex families and a narrow trait model (typical absence or myoclonic seizures) in the subgroups of JME and GAE families. Key Findings: For the entire set of 379 GGE-multiplex families, linkage analysis revealed six loci achieving suggestive evidence for linkage at 1p36.22, 3p14.2, 5q34, 13q12.12, 13q31.3, and 19q13.42. The linkage finding at 5q34 was consistently supported by both NPL and parametric linkage results across all three family groups. A genome-wide significant nonparametric logarithm of odds score of 3.43 was obtained at 2q34 in 118 JME families. Significant parametric linkage to 13q31.3 was found in 235 GAE families assuming recessive inheritance (heterogeneity logarithm of odds = 5.02). Significance: Our linkage results support an oligogenic predisposition of familial GGE syndromes. The genetic risk factor at 5q34 confers risk to a broad spectrum of familial GGE syndromes, whereas susceptibility loci at 2q34 and 13q31.3 preferentially predispose to myoclonic seizures or absence seizures, respectively. Phenotype-genotype strategies applying narrow trait definitions in phenotypic homogeneous subgroups of families improve the prospects of disentangling the genetic basis of common familial GGE syndromes.Publication Metadata only Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population(TAYLOR & FRANCIS LTD) TÜRKDOĞAN, DİLŞAD; Turkdogan, Dilsad; Turkyilmaz, Ayberk; Sager, Gunes; Ozturk, Gulten; Unver, Olcay; Say, MerveAim To identify genetic causes for early infantile epileptic encephalopathies (EIEE) in Turkish children with mostly consanguineous parents. Methods In a selected EIEE group (N = 59) based on results of nongenetic and initial genetic testing with unexplained etiology, 49 patients underwent array-based comparative genomic hybridization (aCGH) and 49 patients underwent whole exome sequencing (WES) including 39 with negative aCGH results and 10 with WES-only. Results Diagnostic yield of aCGH and WES for pathogenic or likely pathogenic variants was 14.3% and 38.8%, respectively. Including de novo variants of uncertain significance linked to compatible phenotypes, increased the diagnostic yield of WES to 61.2%. Out of 38 positive variants, 18 (47.4%) were novel and 16 (42.1%) were de novo. Twenty-one (56.8%) patients had recessive variants inherited from mostly consanguineous healthy parents (85.7%). Fourteen (37.8%) of patients with diagnostic results had positive variants in established EIEE genes. Seizures started during neonatal period in 32.4% patients. Posture or movement disorders were comorbid with EIEE in 40.5% of diagnosed patients. We identified treatable metabolic disorders in 8.1% of patients and pathogenic variants in genes which support using targeted medicine in 19% of patients. Conclusions Detailed electro-clinical phenotyping led to expansion of some of the known phenotypes with non-neurological and neurological findings in addition to seizures, as well as suggestion of candidate genes (SEC24B, SLC16A2 and PRICKLE2) and a copy number variant (microduplication of Xp21.1p11.4). The high ratio of recessive inheritance could be important for family counseling.
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