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    Assessment of Prognostic Factors and Validity of Scoring Models in Childhood Autoimmune Encephalitis
    (AVES, 2023) Kanmaz, Seda; Yilmaz, Sanem; Toprak, Dilara Ece; Atas, Yavuz; Ince, Tugce; Simsek, Erdem; Dokurel, Ipek
    Objective: The aim of this study is to evaluate the prognostic factors in a single-center pediatric cohort with autoimmune encephalitis. Materials and Methods: The study group consisted of 23 pediatric autoimmune encephalitis patients (seropositive autoimmune encephalitis: 15, seronegative autoimmune encephalitis: 8). Five group prognostic parameters were evaluated: clinical manifestations, electroenc ephalography features, magnetic resonance imaging characteristics, biomarkers, and treatment modalities. Three scoring models were applied: the Antibody Prevalence in Epilepsy and Response to Immunotherapy in Epilepsy for predicting autoimmune-related epilepsy in the whole cohort and the anti-N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status score for overall outcome in patients with anti-N-methyl-d-aspartate receptor encephalitis. Results: The initial clinical spectrum of the disease was similar in the seronegative and seropositive groups. Almost half of the patients (48%) recovered without any complications with first-line immunotherapy. The patients with movement disorders in the acute phase of the disease needed more likely second-line immunotherapy (P =.039). The presence of status epilepticus at admission was significantly associated with adverse outcomes and the development of autoimmune-related epilepsy (P =.019). Autoimmune-related epilepsy was defined in an equal proportion of patients (91.5%) with 2 immune epilepsy scores (Antibody Prevalence in Epilepsy and Response to Immunotherapy in Epilepsy). The N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status score and the modified Rankin score assessed for the first-year prognosis were strongly correlated among the patients with anti-N-methyl-d-aspartate receptor encephalitis (P =.03, Spearmen's rho = 0.751). Conclusions: The presence of status epilepticus was the most important prognostic factor in the patients with the adverse outcome. The studied scoring models (Anti-N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status, Antibody Prevalence in Epilepsy, and Response to Immunotherapy in Epilepsy) have also been proven to be applicable to the pediatric age group for predicting overall outcome and autoimmune-related epilepsy.
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    The Prophylaxis of Febrile Convulsions in Childhood: Secular Trends in the Last Decade (2007-2008 versus 2017-2018)
    (Galenos Publ House, 2023) Kanmaz, Seda; Atas, Yavuz; Toprak, Dilara Ece; Hoscoskun, Elif; Olculu, Cemile Busra; Ince, Tugce; Yilmaz, Ozlem
    Aim: To analyze trends in the prophylaxis of febrile convulsions (FC) in childhood by comparing two cohorts from the previous two decades (2007-2008 versus 2017-2018).Materials and Methods: The cohort consisted of 272 children with FC who were followed up during the 2007-2008 (n=105) and 2017-2018 (n=167) periods in Ege University Faculty of Medicine Children's Hospital. The following clinical parameters were analyzed: demographic data, FC types, prophylaxis types, selected anti-seizure medications (ASM), recurrence risk factors, and electroencephalography (EEG) characteristics.Results: We defined two secular trends for the prophylaxis of FC in children in the last decade: (1) a reduced rate of FC prophylaxis (22.1%) in the period of 2017-2018 compared with a rate of 63.8% in 2007-2008, p<0.01, (2) no impact of recurrence risk factors for the initiation of prophylaxis for complex FC in the last decade (p=0.028). The mean number of previous seizures at the initiation of the ASM prophylaxis increased from 2.8 +/- 1.13 to 3.4 +/- 2.00 for simple FC and from 1.9 +/- 0.24 to 3.1 +/- 0.31 for complex FC (p<0.01) in the period of 2017-2018.Conclusion: Prophylaxis rates were determined to be lower in the last decade in children with FC. There was no impact of recurrence risk factors for the initiation of prophylaxis in children with simple or complex FC.
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    Therapeutic implications of etiology-specific diagnosis of early-onset developmental and epileptic encephalopathies (EO-DEEs): A nationwide Turkish cohort study
    (W B Saunders Co Ltd, 2024) Kanmaz, Seda; Tekgul, Hasan; Kayilioglu, Hulya; Atas, Yavuz; Kart, Pinar Ozkan; Yildiz, Nihal; Aydin, Kursad
    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.