Browsing by Author "Tosun A."
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Item Miller Fisher syndrome: A case with pattern of pure sensory polyneuropathy concomitant with anti-GQ1B antibody(2007) Akinci G.; Polat M.; Tosun A.; Serdaroǧlu G.; Gökben S.; Tekgül H.Miller Fisher syndrome is characterized by the acute onset of ophthalmoplegia, ataxia, and areflexia. Anti-GQ1b antibodies are useful markers for the differential diagnosis of Miller Fisher syndrome. We describe the case of a seven-year-old male who presented with a four-day history of diplopia and ophthalmoplegia following a febrile flu-like illness with sore throat. On examination he was found to have ataxia, areflexia and ophthalmoplegia, and a diagnosis of Miller Fisher syndrome was made after the exclusion of other conditions and concomitant with electrophysiological findings on electromyography. Although this disorder has a rare incidence, it should still be considered in the differential diagnosis in our country.Item Ratios of nine risk factors in children with recurrent febrile seizures(2010) Tosun A.; Koturoglu G.; Serdaroglu G.; Polat M.; Kurugol Z.; Gokben S.; Tekgul H.Febrile seizures are the most common convulsive disorder of childhood, with a recurrence probability of 33%. The aim of the study was to determine the risk factors for recurrence of febrile seizures in children. In this descriptive, cross-sectional study, nine risk factors of recurrence of febrile seizures were investigated in 259 children with febrile seizures: (1) sex; (2) domicile; (3) income level; (4) family history of febrile seizures; (5) family history of epilepsy; (6) level of fever; (7) duration of fever; (8) type of seizure, simple vs complex; and (9) age at seizure onset. The risk factors were compared for 119 children with isolated febrile seizures (45.9% of the total) and 140 children with two or more febrile seizure recurrences (54.1%). Among the patients with and without recurrent febrile seizures, 32% and 18% were domiciled in nonurban areas, respectively (P = 0.012). There was a family history of febrile seizures in 57% and 44% of cases with and without recurrent febrile seizures, respectively (P = 0.031). According to the logistic regression analysis, a family history of febrile seizures was a risk factor that affected recurrence (P = 0.018; odds ratio OR = 1.933; 95% confidence interval CI = 1.121-3.333). We also found that domicile (P = 0.001) and income (P = 0.013) were risk factors for recurrence. A family history of epilepsy was not a significant risk factor (P = 0.129; OR = 2.110; 95% CI = 0.804-5.539). © 2010 by Elsevier Inc. All rights reserved.Item Neurocognitive evaluation in children with occipital lobe epilepsy(2012) Polat M.; Gokben S.; Tosun A.; Serdaroglu G.; Tekgul H.Purpose: This study aimed to explore cognitive functions in patients with childhood epilepsy with occipital paroxysms (CEOP) and to compare the performance of these patients with that of patients with symptomatic occipital epilepsy (SOE) and healthy control subjects. Method: Twenty-eight patients with epilepsy (17 CEOP, 11 SOE) were enrolled. The control group had similar demographical characteristics. Cognitive functions evaluated with Wechsler Intelligence Scale for Children-revised edition (WISC-R), The Visual Aural Digit Span (VADS) and Bender Visual Motor Gestalt Test (BVMG). Results: The WISC-R showed lower performance IQ with WISC-R in patients with occipital epilepsy than in healthy controls. The VADS test only showed lower scores in children with symptomatic occipital epilepsy. Mean BVMG test scores were significantly abnormal in both subgroups of childhood epilepsy with occipital paroxysms (early-onset CEOP/late-onset CEOP) and the group with SOE. Conclusion: Patients with CEOP, especially the late-onset form, have significant problems in the domains of visuomotor coordination, memory and attention. The academic performance of these patients should be monitored carefully in follow-up and appropriate educational support should be given as necessary. © 2012 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.Item Changing views of cerebral palsy over 35 years: The experience of a center(2013) Tosun A.; Gökben S.; Serdaroǧlu G.; Polat M.; Tekgül H.In this study, it was aimed to evaluate the demographic and clinical characteristics of cerebral palsy (CP) cases over a 35-year period. Findings of 442 patients with CP followed from 1995 to 2006 (Group 2) were compared with 208 patients with CP followed between 1972 and 1994 (Group 1) in the same pediatric neurology division. Ratios of both prematurity (38% vs. 17.7%) and very low birth weight (VLBW) infants (13.8% vs. 1.5%) significantly increased in Group 2. There was also a four-fold increase in cesarean delivery in Group 2 (42.3% vs. 9.6%). A significant increase in the rate of early diagnosis during the first year was also found in this group (56.9% vs. 39.4%). The rate of spastic diparesis cases has significantly increased (33.7% vs. 7.7%), while the rate of spastic tetraparesis cases has significantly decreased (63.5% vs. 37.3%). It was seen that preventable risk factors continue today.Item A Qualitative Research on Sport and Education for The Disabled from The Perspective of Sports Managers and Trainers; [Badanie jakościowe sportu i edukacji dla osób niepełnosprawnych z punktu widzenia managerów sportu i trenerów](Stanislaw Podobinski Publishing House of the Jan Dlugosz University, 2021) Sönmezoğlu U.; Tosun A.; Yildiz K.The purpose of this research is the analysis of sports activities for the disabled from the perspective of sports managers and trainers. In this study, a phenomenology pattern was used with a qualitative research method. An interview method was used in data collection. The research group consisted of 10 (female, male) volunteer participants. For the validity and reliability of the study, the findings of two independent researchers were compared and confirmed. For the reliability of the research, the researchers defined the method and stages of the research clearly and in detail. A content analysis method was used to analyse the data. In the study, it was noticed that the participants chose sport for the disabled for such reasons as socializing of the disabled, providing the disabled with self-confidence, contributing to their development. The participants pointed out that the disabled are open to change and improvement and at the same time they are sensitive. Moreover, the participants underlined that sport increases the quality of life, socialization, and self-confidence of the disabled. However, it can be stated that the disabled face problems such as lack of facilities and transportation, employment, attitude of family and community, etc. Finally, the research revealed that studies discussing cooperation with universities, inclusion of sports disciplines in federations, establishment of substructure, education for the disabled, etc. should be carried out for the development of sport for the disabled. © 2021, Stanislaw Podobinski Publishing House of the Jan Dlugosz University. All rights reserved.Item Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study(Georg Thieme Verlag, 2022) Günay Ç.; Aykol D.; Özsoy Ö.; Sönmezler E.; Hanci Y.S.; Kara B.; Akkoyunlu Sünnetçi D.; Cine N.; Deniz A.; Özer T.; Ölçülü C.B.; Yilmaz Ö.; Kanmaz S.; Yilmaz S.; Tekgül H.; Yildiz N.; Acar Arslan E.; Cansu A.; Olgaç Dündar N.; Kusgoz F.; Didinmez E.; Gençpinar P.; Aksu Uzunhan T.; Ertürk B.; Gezdirici A.; Ayaz A.; Ölmez A.; Ayanoǧlu M.; Tosun A.; Topçu Y.; Kiliç B.; Aydin K.; Çaǧlar E.; Ersoy Kosvali Ö.; Okuyaz Ç.; Besen Ş.; Tekin Orgun L.; Erol İ.; Yüksel D.; Sezer A.; Atasoy E.; Toprak Ü.; Güngör S.; Ozgor B.; Karadaǧ M.; Dilber C.; Şahinoǧlu B.; Uyur Yalçin E.; Eldes Hacifazlioglu N.; Yaramiś A.; Edem P.; Gezici Tekin H.; Yilmaz Ü.; Ünalp A.; Turay S.; Biçer D.; Gül Mert G.; Dokurel Çetin İ.; Kirik S.; Öztürk G.; Karal Y.; Sanri A.; Aksoy A.; Polat M.; Özgün N.; Soydemir D.; Sarikaya Uzan G.; Ülker Üstebay D.; Gök A.; Yeśilmen M.C.; Yiś U.; Karakülah G.; Bursali A.; Oktay Y.; Hiz Kurul S.Background Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. Methods In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. Results Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. Conclusion Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients. © 2022 Hippokrates Verlag GmbH. All rights reserved.Item Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes(W.B. Saunders Ltd, 2022) Yılmaz Ü.; Gücüyener K.; Yavuz M.; Öncel İ.; Canpolat M.; Saltık S.; Ünver O.; Çıtak Kurt A.N.; Tosun A.; Yılmaz S.; Özgör B.; Erol İ.; Öztoprak Ü.; Elitez D.A.; Direk M.Ç.; Bodur M.; Teber S.; Anlar B.; Aykol D.; Yıldız E.P.; Yarar C.; Kara B.; Haspolat; İncecik F.; Kutluk G.; Dilber C.; Dundar N.O.; Tan H.; Demir E.; Dursun B.D.; Dilek T.D.; Türkdoğan D.; Yalnızoğlu D.; Akbaş S.; Güleç A.; Yılmaz D.; Ayanoğlu M.; Kanmaz S.; Güngör S.; Öztürk G.; Besen; Haliloğlu G.; Karaca N.B.; Öztürk S.; Yüksel D.; Gürkaş E.; Oktay S.; Serin H.M.; Karadağ M.; Hakkı Akbeyaz İ.; Yiş U.; Polat B.G.; Okan M.S.; Bektaş Ö.; Orgun L.T.; Günbey C.; Per H.; Gültutan P.; Öztürk S.B.; Aksoy E.; Akyüz G.; Tekgül H.; Kürekçi F.; Kurul A.S.H.; Çarman K.B.; Alikılıç D.; Duman Ö.; Kömür M.; Yıldırım M.; Alıcı N.; Gümüş H.; Polat M.; Konuşkan B.; Güngör O.; Mert G.G.; Edizer S.; Mıhçı F.; Öztürk S.T.; Toker R.T.; Arslan M.; Şahin S.; Gencpinar P.; Yıldırım E.; Yüksel E.; Ekici A.; Deniz A.; Yayici Köken Ö.; Okuyaz Ç.; Süt N.Y.; Atasoy E.; Solmaz İ.; Yetkin M.F.; Bilgin N.; Atasever A.K.; Tekin H.G.; Dokurel İ.; Özçelik A.; Aksoy A.; Türköz A.N.; Cavusoglu D.; Özkan M.; Tekin E.; Şahin T.U.; Ünalp A.; Koç H.; Sarıgeçili E.; Sarıtaş S.; Ayça S.; Kayılıoğlu H.; Şenoğlu M.Ç.; Kamaşak T.; Asadova N.; Keskin F.; Karaoğlu P.; İpek R.; Acer H.Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Türkiye. Clinical and paraclinical features were compared between patients with disease onset before 12 years (earlier onset) and ≥12 years (later onset) as well as between our current (2015–2021) and previous (<2015) cohorts. Results: A total of 634 children (456 girls) were enrolled, 89 (14%) were of earlier onset. The earlier-onset group had lower female/male ratio, more frequent initial diagnosis of acute disseminated encephalomyelitis (ADEM), more frequent brainstem symptoms, longer interval between the first two attacks, less frequent spinal cord involvement on magnetic resonance imaging (MRI), and lower prevalence of cerebrospinal fluid (CSF)-restricted oligoclonal bands (OCBs). The earlier-onset group was less likely to respond to initial disease-modifying treatments. Compared to our previous cohort, the current series had fewer patients with onset <12 years, initial presentation with ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI. The female/male ratio, the frequency of sensorial symptoms, and CSF-restricted OCBs were higher than reported in our previous cohort. Conclusion: Pediatric MS starting before 12 years was less common than reported previously, likely due to exclusion of patients with antibody-mediated diseases. The results underline the importance of antibody testing and indicate pediatric MS may be a more homogeneous disorder and more similar to adult-onset MS than previously thought. © 2022 European Paediatric Neurology SocietyItem Therapeutic implications of etiology-specific diagnosis of early-onset developmental and epileptic encephalopathies (EO-DEEs): A nationwide Turkish cohort study(W.B. Saunders Ltd, 2024) Kanmaz S.; Tekgul H.; Kayilioglu H.; Atas Y.; Kart P.O.; Yildiz N.; Gumus H.; Aydin K.; Olculu C.B.; Dogan D.E.T.; Per H.; Canpolat M.; Gulec A.; Yildirim N.; Turk E.; Celik N.; Ozturk S.; Kumandas S.; Kilic B.; Topcu Y.; Ozpinar E.; Coskun A.; Arslan M.; Akkoyunlu D.S.; Cine N.; Uzan G.S.; Gunay C.; Akyol D.; Ersoy O.; Direk M.C.; Komur M.; Kirkgoz H.; Karaoğlu P.; Ibis I.B.P.; Cerci C.; Orak A.; Oktay S.; Ayanoglu M.; Yildirim M.; Bektas O.; Serdaroglu E.; Yilmaz S.B.; Cankurt I.; Hirfanoglu T.; Arhan E.; Gencpinar P.; Dundar N.O.; Teber S.; Serin H.M.; Yilmaz S.; Tosun A.; Polat M.; Yilmaz U.; Unalp A.; Kara B.; Okuyaz C.; Yis U.; Hiz S.; Aktan G.; Gokben S.; Unay B.; Serdaroglu A.; Cansu A.Objective: To evaluate the etiology-specific diagnosis of early-onset developmental epileptic encephalopathies (EO-DEEs) in a nationwide Turkish cohort to determine the implications for therapeutic management. Methods: The cohort comprised 1450 patients who underwent EO-DEE. The utility of genetic testing was assessed with respect to the initial phases of next generation sequencing (NGS) (2005–2013) and the current NGS era (2014–2022). A predefined four-stepwise diagnostic model was evaluated using cost-effectiveness analysis. The diagnostic and potential therapeutic yields of the genetic tests were subsequently determined. Results: Gene-related EO-DEEs were identified in 48.3 % (n = 701) of the cohort: non-structural genetic (62.6 %), metabolic genetic (15.1 %), and structural genetic (14.1 %). The most common nonstructural genetic variants were SCN1A (n = 132, 18.8 %), CDKL5 (n = 30, 4.2 %), STXBP1 (n = 21, 2.9 %), KCNQ2 (n = 21, 2.9 %), and PCDH19 (n = 17, 2.4 %). The rate of ultra-rare variants (< 0.5 %) was higher in the NGS era (52 %) than that in the initial phase (36 %). The potential therapeutic yields with precision therapy and antiseizure drug modification were defined in 34.5 % and 56.2 % in genetic-EO-DEEs, respectively. The diagnostic model provided an etiology-specific diagnosis at a rate of 78.7 %: structural (nongenetic) (31.4 %), genetic (38.5 %), metabolic (6.1 %), and immune-infectious (2.8 %). Based on a cost-effectiveness analysis, the presented diagnostic model indicated the early implementation of whole-exome sequencing for EO-DEEs. Significance: In the present cohort, the higher rate (48.3 %) of gene-related EO-DEE diagnoses in the NGS era provides a potential therapeutic management plan for more patients. © 2024 British Epilepsy AssociationItem Corrigendum to “Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes” [Europ. J. Paediatr. Neurol. 41 (2022) 8–18 doi.org/10.1016/j.ejpn.2022.08.006, (S1090379822001246), (10.1016/j.ejpn.2022.08.006)](W.B. Saunders Ltd, 2024) Yılmaz Ü.; Gücüyener K.; Yavuz M.; Ibrahim Oncel; Canpolat M.; Saltık S.; Ünver O.; Çıtak Kurt A.N.; Tosun A.; Yılmaz S.; Özgör B.; Ilknur Erol; Öztoprak Ü.; Elitez D.A.; Çobanoğulları Direk M.; Bodur M.; Teber S.; Anlar B.; Erol İ.; Aykol D.; Direk M.Ç.; Yıldız E.P.; Yarar C.; Kara B.; Haspolat; İncecik F.; Kutluk G.; Dilber C.; Dundar N.O.; Tan H.; Öncel İ.; Demir E.; Dursun B.D.; Dilek T.D.; Türkdoğan D.; Yalnızoğlu D.; Akbaş S.; Güleç A.; Yılmaz D.; Ayanoğlu M.; Kanmaz S.; Güngör S.; Öztürk G.; Besen; Haliloğlu G.; Karaca N.B.; Öztürk S.; Yüksel D.; Gürkaş E.; Oktay S.; Serin H.M.; Karadağ M.; Akbeyaz İ.H.; Yiş U.; Polat B.G.; Okan M.S.; Bektaş Ö.; Orgun L.T.; Günbey C.; Per H.; Gültutan P.; Öztürk S.B.; Aksoy E.; Akyüz G.; Tekgül H.; Kürekçi F.; Hız Kurul A.S.; Çarman K.B.; Alikılıç D.; Duman Ö.; Kömür M.; Yıldırım M.; Alıcı N.; Gümüş H.; Polat M.; Konuşkan B.; Güngör O.; Mert G.G.; Edizer S.; Mıhçı F.; Öztürk S.T.; Toker R.T.; Arslan M.; Şahin S.; Gencpinar P.; Yıldırım E.; Yüksel E.; Ekici A.; Deniz A.; Köken Ö.Y.; Okuyaz Ç.; Süt N.Y.; Atasoy E.; Solmaz İ.; Yetkin M.F.; Bilgin N.; Atasever A.K.; Tekin H.G.; Dokurel İ.; Özçelik A.; Aksoy A.; Türköz A.N.; Cavusoglu D.; Özkan M.; Tekin E.; Şahin T.U.; Ünalp A.; Koç H.; Sarıgeçili E.; Sarıtaş S.; Ayça S.; Kayılıoğlu H.; Şenoğlu M.Ç.; Kamaşak T.; Asadova N.; Keskin F.; Karaoğlu P.; İpek R.; Acer H.The authors would like to apologise for any inconvenience caused. © 2024 European Paediatric Neurology SocietyItem Optic neuritis in Turkish children and adolescents: A multicenter retrospective study(Elsevier B.V., 2024) Direk M.Ç.; Besen Ş.; Öncel İ.; Günbey C.; Özdoğan O.; Orgun L.T.; Sahin S.; Cansu A.; Yıldız N.; Kanmaz S.; Yılmaz S.; Tekgül H.; Türkdoğan D.; Ünver O.; Thomas G.Ö.; Başıbüyük S.; Yılmaz D.; Kurt A.N.; Gültutan P.; Özsoy Ö.; Yiş U.; Kurul S.H.; Güngör S.; Özgör B.; Karadağ M.; Dündar N.O.; Gençpınar P.; Bildik O.; Orak S.A.; Kabur Ç.Ç.; Kara B.; Karaca Ö.; Canpolat M.; Gümüş H.; Per H.; Yılmaz Ü.; Karaoğlu P.; Ersoy Ö.; Tosun A.; Öztürk S.B.; Yüksel D.; Atasoy E.; Gücüyener K.; Yıldırım M.; Bektaş Ö.; Çavuşoğlu D.; Yarar Ç.; Güngör O.; Mert G.G.; Sarıgeçili E.; Edizer S.; Çetin İ.D.; Aydın S.; Diler B.; Özdemir A.A.; Erol İ.; Okuyaz Ç.; Anlar B.Background: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge. Methods: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation. Results: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 ± 3.4 years, and mean follow-up, 2.1 years (range: 1–12.1 years). Patients <10 years old were grouped as "prepubertal" and those ≥10 years old as "others”. The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset ≥ 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis. Conclusion: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri‑ or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group. © 2023 Elsevier B.V.