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Öğe Clinical and Electrophysiological Features Predicting Response to Antiseizure Medications in Juvenile Absence Epilepsy(Georg Thieme Verlag Kg, 2023) Karaoglu, Pakize; Tekin, Hande GazeteciBackground We aimed to evaluate the clinical findings and electroencephalographic (EEG) characteristics of patients with juvenile absence epilepsy (JAE) and to determine the factors that predict response to antiseizure medications (ASMs) in JAE. Methods We reviewed the medical records of 29 patients with JAE. The patients who were seizure-free during the last 12 months of their follow-up and who did not have generalized spike waves on their last EEG were considered as the treatment-responsive group, and the patients whose clinical seizures persisted during the last 12 months of their follow-up or who had generalized spike waves on their follow-up EEGs were considered as patients who did not respond to ASMs. Results There were 29 patients, 20 girls and nine boys, with a mean age of 13.34 +/- 2.17 years and a follow-up time of 32.1 +/- 11.9 months. Twenty-two cases (75.8%) were evaluated as responsive to treatment. Generalized tonic-clonic seizures (GTCS) were statistically more common in patients who did not respond to ASM. Epileptic seizures began at a younger age in the group that responded to medication. Occipital intermittent rhythmic delta activity (OIRDA) in EEG was significantly higher in the group that responded to the medication. Conclusion Our study shows that concomitant GTCS may predict poorer response to ASMs in JAE. Younger age at diagnosis and OIRDA on EEG may be associated with better response to treatment. Our findings need to be confirmed by further prospective and long-term studies.Öğe Clinical and electrophysiological prognostic factors of childhood absence epilepsy(Galenos Yayincilik, 2021) Tekin, Hande Gazeteci; Karaoğlu, Pakize; Edem, PınarAim: Childhood absence epilepsy is common idiopathic epilepsy in childhood. This epilepsy, which has been shown to impair cognition, needs to be treated promptly and correctly. Therefore, determining its prognostic factors before treatment can provide prediction on the duration of treatment, drug selection, and drug dosage. Materials and Methods: The electroencephalography (EEG) and clinical findings of patients diagnosed with childhood absence epilepsy who were monitored for at least 12 months in the pediatric neurology clinics of two university hospitals between 2016 and 2020 were reviewed retrospectively. The patients were divided into two groups as responsive and unresponsive, according to seizures, EEG findings, and recurrent seizures after treatment. The epidemiological and clinical features of the two groups were compared. Results: Sixty-three patients who were diagnosed with childhood absence epilepsy according to the Panayiotopoulos criteria participated in this study. Thirty-nine (62%) of the patients were responsive to treatment (group 1), the remaining 24 patients (38%) (group 2) were unresponsive to treatment. Fifteen patients were valproate resistant, and nine patients relapsed after drug treatment withdrawal in group 2. The mean age of the patients was 7.87 +/- 1.68. The mean follow-up period was 29.1 +/- 13.6 (13-72 months) months. The mean age was lower in the responsive group of patients. The time between the onset of seizures and treatment was significantly longer in group 2. The number of patients with occipital intermittent rhythmic delta activity (OIRDA) in the responsive group was higher. A significant difference was found in the number of spike-slow wave complex and the amplitude of discharges between the two groups. Conclusion: In this study, it was seen that young age was an advantage for treatment response. Early initiation of treatment and OIRDA were good prognostic factors, while high amplitude and numerous discharges were among the poor prognostic factors.Öğe Clinical and Electrophysiological Prognostic Factors of Childhood Absence Epilepsy(Galenos Yayincilik, 2021) Tekin, Hande Gazeteci; Karaoglu, Pakize; Edem, PinarAim: Childhood absence epilepsy is common idiopathic epilepsy in childhood. This epilepsy, which has been shown to impair cognition, needs to be treated promptly and correctly. Therefore, determining its prognostic factors before treatment can provide prediction on the duration of treatment, drug selection, and drug dosage. Materials and Methods: The electroencephalography (EEG) and clinical findings of patients diagnosed with childhood absence epilepsy who were monitored for at least 12 months in the pediatric neurology clinics of two university hospitals between 2016 and 2020 were reviewed retrospectively. The patients were divided into two groups as responsive and unresponsive, according to seizures, EEG findings, and recurrent seizures after treatment. The epidemiological and clinical features of the two groups were compared. Results: Sixty-three patients who were diagnosed with childhood absence epilepsy according to the Panayiotopoulos criteria participated in this study. Thirty-nine (62%) of the patients were responsive to treatment (group 1), the remaining 24 patients (38%) (group 2) were unresponsive to treatment. Fifteen patients were valproate resistant, and nine patients relapsed after drug treatment withdrawal in group 2. The mean age of the patients was 7.87 +/- 1.68. The mean follow-up period was 29.1 +/- 13.6 (13-72 months) months. The mean age was tower in the responsive group of patients. The time between the onset of seizures and treatment was significantly longer in group 2. The number of patients with occipital intermittent rhythmic delta activity (OIRDA) in the responsive group was higher. A significant difference was found in the number of spike-slow wave complex and the amplitude of discharges between the two groups. Conclusion: In this study, it was seen that young age was an advantage for treatment response. Early initiation of treatment and OIRDA were good prognostic factors, while high amplitude and numerous discharges were among the poor prognostic factors.Öğe Deprem sonrası göç eden ergenlerde gerilim tipi baş ağrısı: Kontrollü çalışma(2021) Gönüllü, Edip; Tekin, Hande GazeteciGiriş: Depremzedeler afetlerin akut travmatik etkilerinin yanı sıra aile bireylerini kaybetmek, ikamet ettikleri yeriterk etmek zorunda kalmak, okul değiştirmek gibi ciddi psikolojik stresli durumlarla da karşı karşıya kalmaktadırlar.Doğal afetler sonrası gelişen hastalıklar arasında gerilim tipi baş ağrısı travma sonrası stres bozukluğundan sonraen sık görülen ikinci durumdur.Gereç ve Yöntem: Bu çalışma gerilim tipi baş ağrısı açısından deprem sonrası yer değiştirmek zorunda kalan(Grup 1), deprem geçirip yer değiştirmeyen (Grup 2) ve yıkıma neden olacak bir deprem yaşamamış ergenlerde(Kontrol Grup) yürütüldü. Tüm hasta gruplarının epidemiyolojik ve demografik özellikleri kaydedildi. Baş ağrısıolan hastalar, baş ağrısı nedeniyle okula gelememe, okul ödevlerini yapamama, ev işlerine yardım etme gibigünlük aktiviteleri açısından sorgulandı ve kayıt altına alındı. Grupların karşılaştırılmasında Student's t testi ve kikare testi kullanıldı. P <0.05 değeri istatistiksel olarak anlamlı kabul edildi.Bulgular: 498 lise öğrencisinin yaş ortalaması 15.6 ± 0.67 olup, bu öğrencilerin 287'si erkek, 211'i kızdır. Afetsonrası yerinden olan ergenlerde gerilim tipi baş ağrısı oranı % 64, deprem sonrası göç etmeyen ve bulunduğuyerde kalanlarda ise bu oran % 40 idi. Gerilim tipi baş ağrısı olan Grup 1'deki hastaların% 38,6'sının baş ağrısışiddet skoru yüksek (4-5 puan) olmakla birlikte bu bulgu istatistiksel olarak anlamsızdı. Doksan gün okulagelmeme ve ev işlerine yardımda aksama bakımından karşılaştırıldığında üç grup arasında anlamlı fark bulundu.Sonuç: Depreme maruz kalan ve yerinden edilmiş ergenlerde baş ağrısı sıklığının ve şiddetinin diğer gruplaragöre daha yüksek olması, bu grubun deprem bölgesinden uzaklaşmalarına rağÖğe Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emery-dreifuss muscular dystrophy(2020) Tekin, Hande Gazeteci; Yılmaz, Sabire Sanem; Tekgül, Hasan; Gökben, Sarenur; Aktan, GülDropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C> A) heterozygote mutation by the gene sequencing in the Lamin A/C assocıated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy.Öğe Effects of sulthiame on seizure frequency and EEG in children with electrical status epilepticus during slow sleep(Academic Press Inc Elsevier Science, 2021) Topcu, Yasemin; Kılıç, Betül; Tekin, Hande Gazeteci; Aydın, Kürşad; Turanlı, GüzideObjective: It is argued that early and adequate treatment of electrical status epilepticus in sleep (ESES) is essential to preserve cognitive functions and possibly recovering lost skills. Although antiepileptic drugs (AEDs) are effective in ESES, there is not much experience in the use of sulthiame. In this study, we aimed to examine the efficiency and tolerability of sulthiame in ESES. Methods: The data of 39 patients diagnosed as ESES and who received sulthiame as an additional treatment between 2016 and 2020 were reviewed retrospectively. Electroencephalographic (EEG) findings and seizure rates were compared before and after the sulthiame treatment. Results: The mean age was 8.5 +/- 4.1 (1.5-16 years). Nine out of 39 patients had benign childhood focal epilepsies. Structural causes were identified in 13 patients. The mean duration of sulthiame use was 32.5 +/- 13.7 months. After sulthiame treatment, 25 patients (64.1%) were seizure free, and 8 (20.5%) had more than a 50% decrease in seizure frequency. The mean seizure-free time after the sulthiame treatment was 27.8 +/- 17.9 months. Nineteen patients (48.7%) had complete, and nine patients (23.1%) had partial EEG improvement. Complete seizure control was significantly higher in benign focal epilepsy of childhood (p = 0.01). Significant neurocognitive and behavioral recovery, improvement in school performance was observed following sulthiame treatment (p < 0.001). Conclusion: Sulthiame was found to be effective in seizure control and EEG improvement in ESES. We think that the use of sulthiame alone can be a good choice with high efficacy and tolerability in ESES. (C) 2021 Elsevier Inc. All rights reserved.Öğe Evaluation of MicroRNAs in Pediatric Epilepsy(Aves, 2023) Carman, Kursat Bora; Tekin, Hande Gazeteci; Cavusoglu, Dilek; Yarar, Coskun; Kaplan, Emre; Karademir, Cefa Nil; Arslantas, DidemObjective: The pathophysiology of epilepsy remains unknown. Recent research has shown that microRNA expression changes in epileptic adults. In the present work, we aimed to identify serum microRNA expression in drug-responsive and resistant children with idiopathic generalized epilepsy.Materials and Methods: The study included 43 (20 male and 23 female) epilepsy patients and 66 (43 male and 23 female) control subjects. The mean ages of the groups were 113.41 & PLUSMN; 61.83 and 105.46 & PLUSMN; 62.31 months, respectively. Twenty-eight epileptic patients were classified as drug resistant. Thirteen of the controls were the siblings of patients with epilepsy. The study only included children with idiopathic generalized epilepsy who had normal brain magnetic resonance imaging. The serum microRNA expressions (microRNA-181a, microRNA-155, microRNA-146, and microRNA-223) were investigated. Expressions of serum microRNA-181a, microRNA-155, microRNA-146, and microRNA-223 were previously investigated in epilepsy patients and children with febrile seizures. Therefore, these microRNAs were chosen. The expressions of serum levels of microRNAs were determined using quantitative real-time polymerase chain reaction.Results: The results indicated that the expressions of serum microRNA-155 and microRNA-223 were elevated in epileptic children (P < .05). The expression of the same microRNAs was also elevated in individuals with drug-resistant epilepsy compared to healthy controls (P < .05). microRNA-146a, microRNA-155, and microRNA-223 expressions were higher in drug-resistant patients than in drug-responsive children (P < .05). A logistic regression study determined that an increase of microRNA-155 was a risk for epilepsy, while a decrease of microRNA-146a risk for epilepsy.Conclusion: Few researchers have investigated the function of microRNAs in the development of childhood epilepsy. Our findings revealed that epilepsy patients have abnormal microRNAexpression.Öğe Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey(Springer-Verlag Italia Srl, 2021) Kose, Melis; Kose, Engin; Ünalp, Aycan; Yılmaz Unsal; Edizer, Selvinaz; Tekin, Hande Gazeteci; Yıldırım, Eser SozmenIntroduction and purpose Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL. Material and method This is a descriptive cross-sectional study which was conducted in 14 patients from 10 unrelated families who were diagnosed with different types of NCL based on clinical presentation, neuroimaging, biochemical measurements, and molecular analyses, at the department of pediatric metabolism between June 2015 and June 2020. Results A total of 14 patients were diagnosed with different types of NCL. Of those, 4 patients were diagnosed with NCL7 (4/14; 30%), 3/14 (23%) with NCL1, 3/14 (23%) with NCL2, 2/14 (14.2%) with NCL13, and 1/14 (7.1%) with NCL10. Eleven pathogenic variants were detected, 5 of which are novel (c.721G>T [p.Gly241Ter] and c.301G>C [p.Ala146Pro] in MFDS8 gene; c.316C>T [p.Gln106Ter] in PPT1 gene; c.341C>T [p.Ala114Val] in TPP1 gene; c.686A>T [p.Glu229Val] in CTSD gene) Conclusion This study is one of the pioneer comprehensive researches from Turkey that provides information about disease-causing variants and clinical presentation of different and rare types of NCLs. The identification of novel variants and phenotypic expansion is important for genetic counselling in Turkey and expected to improve understanding of NCLs.Öğe Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome(Elsevier, 2022) Tekin, Hande Gazeteci; Edem, Pinar; Ozyilmaz, BerkBackground: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predominant lower extremity involvement (SMA-LED), Charcot-Marie-Tooth 2O (CMT2O) disease, cortical migration anomalies, and autosomal dominant mental retardation13. SMA-LED phenotype-related mutation was found in the DYNC1H1 gene in the patient who applied with the complaint of gait disturbance.Methods: Pathogenic heterozygous c.1678G > A (p.Val560Met) mutation was detected in the DYNC1H1 gene by next generation targeted gene analysis in the patient who had no phenotypic findings except delayed motor milestones, lumbar lordosis, and lower extremity muscle weakness. The patient's creatinine phosphokinase enzyme level and brain magnetic resonance imaging (MRI) were normal. Electromyography (EMG) had pure motor findings.Conclusion: It should be kept in mind that DYNC1H1 mutation, which we are accustomed to seeing with accompanying findings such as orthopedic and ocular dysmorphic findings, sensorineural EMG findings, and intellectual disability, can also observe with pure motor findings such as muscular dystrophy examination findings. (c) 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
