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 Open Access A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy(W B SAUNDERS CO LTD, 2019-03) TÜRKDOĞAN, DİLŞAD; Turkdogan, Dilsad; Turkyilmaz, Ayberk; Gormez, Zeliha; Sager, Gunes; Ekinci, GazanferPublication 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 Open Access Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy(W B SAUNDERS CO LTD, 2017-08) TÜRKDOĞAN, DİLŞAD; Turkdogan, Dilsad; Usluer, Sunay; Akalin, Figen; Agyuz, Umut; Aslan, Elif SibelPublication Open Access Polygenic burden in focal and generalized epilepsies(2019-11-01) TÜRKDOĞAN, DİLŞAD; Leu, Costin; Stevelink, Remi; Smith, Alexander W; Goleva, Slavina B; Kanai, Masahiro; Ferguson, Lisa; Campbell, Ciaran; Kamatani, Yoichiro; Okada, Yukinori; Sisodiya, Sanjay M; Cavalleri, Gianpiero L; Koeleman, Bobby P C; Lerche, Holger; Jehi, Lara; Davis, Lea K; Najm, Imad M; Palotie, Aarno; Daly, Mark J; Busch, Robyn M; Epi25 Consortium; Lal, DennisAbstract Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The phenotypic consequences of common genetic risk burden for epilepsies and their potential future clinical applications have not yet been determined. Using polygenic risk scores (PRS) from a European-ancestry genome-wide association study in generalized and focal epilepsy, we quantified common genetic burden in patients with generalized epilepsy (GE-PRS) or focal epilepsy (FE-PRS) from two independent non-Finnish European cohorts (Epi25 Consortium, n = 5705; Cleveland Clinic Epilepsy Center, n = 620; both compared to 20 435 controls). One Finnish-ancestry population isolate (Finnish-ancestry Epi25, n = 449; compared to 1559 controls), two European-ancestry biobanks (UK Biobank, n = 383 656; Vanderbilt biorepository, n = 49 494), and one Japanese-ancestry biobank (BioBank Japan, n = 168 680) were used for additional replications. Across 8386 patients with epilepsy and 622 212 population controls, we found and replicated significantly higher GE-PRS in patients with generalized epilepsy of European-ancestry compared to patients with focal epilepsy (Epi25: P = 1.64×10−15; Cleveland: P = 2.85×10−4; Finnish-ancestry Epi25: P = 1.80×10−4) or population controls (Epi25: P = 2.35×10−70; Cleveland: P = 1.43×10−7; Finnish-ancestry Epi25: P = 3.11×10−4; UK Biobank and Vanderbilt biorepository meta-analysis: P = 7.99×10−4). FE-PRS were significantly higher in patients with focal epilepsy compared to controls in the non-Finnish, non-biobank cohorts (Epi25: P = 5.74×10−19; Cleveland: P = 1.69×10−6). European ancestry-derived PRS did not predict generalized epilepsy or focal epilepsy in Japanese-ancestry individuals. Finally, we observed a significant 4.6-fold and a 4.5-fold enrichment of patients with generalized epilepsy compared to controls in the top 0.5% highest GE-PRS of the two non-Finnish European cohorts (Epi25: P = 2.60×10−15; Cleveland: P = 1.39×10−2). We conclude that common variant risk associated with epilepsy is significantly enriched in multiple cohorts of patients with epilepsy compared to controls—in particular for generalized epilepsy. As sample sizes and PRS accuracy continue to increase with further common variant discovery, PRS could complement established clinical biomarkers and augment genetic testing for patient classification, comorbidity research, and potentially targeted treatment.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 Open Access Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy(2013-02) TÜRKDOĞAN, DİLŞAD; Møller, Rikke S.; Weber, Yvonne G.; Klitten, Laura L.; Trucks, Holger; Muhle, Hiltrud; Kunz, Wolfram S.; Mefford, Heather C.; Franke, Andre; Kautza, Monika; Wolf, Peter; Dennig, Dieter; Schreiber, Stefan; Rückert, Ina-Maria; Wichmann, H.-Erich; Ernst, Jan P.; Schurmann, Claudia; Grabe, Hans J.; Tommerup, Niels; Stephani, Ulrich; Lerche, Holger; Hjalgrim, Helle; Helbig, Ingo; Sander, Thomas; EPICURE Consortium