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Öğe A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype(Oxford Univ Press, 2022) Cokyaman, Turgay; Cetin, Huriye; Dogan, Durmus; Silan, FatmaNARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.Öğe A rare presentation of Susac syndrome: Report of three pediatric cases(Elsevier Sci Ltd, 2021) Yalcinkaya, Beyza Citci; Cetin, Ozdem Erturk; Kilic, Huseyin; Demirci, Onat; Cokyaman, Turgay; Uygunog, UgurSusac syndrome is a rare disorder that is clinically characterized by encephalopathy, retinopathy and hearing loss. Most of the reported cases in the literature are adult patients, pediatric presentation is extremely rare. Here we present three pediatric patients aged between 10-15; diagnosed as Susac syndrome. They all had thalamic involvement in addition to typical callosal lesions. All of the three patients had a monophasic course and good treatment response.Öğe Accompanying Infections in Hospitalized Children with Neurological Disease(Galenos Publ House, 2022) Cokyaman, Turgay; Kasap, Tolga; Celik, TaylanIntroduction: Infections in children with neurological disease often require hospitalization and are treated with antibiotics. In this study, it was aimed to determine the accompanying infections, antibiotics used and pathogenic microorganisms grown in cultures in hospitalized children with neurological disease. Materials and Methods: Digital medical files of patients between one month and 18 years old admitted to the pediatric neurology service were retrospectively analyzed. Diagnoses of neurological and infectious disease, antibiotics and antiepileptics used, and culture antibiogram results were recorded. Results: The most common infectious disease in children with neurological disease was lower respiratory tract infections (50%). Antibiotic use rate in children with neurological diseases was 51.9% (32.4% single and 19.4% combined). Lower respiratory tract infections (50%) were the leading antibiotic indications. Third generation cephalosporins (46%) were the most used in mono antibiotherapy, carbapenems (26.6%), gylicopeptides (26.6%) and broad-spectrum penicillins (10%) were used at higher rates in combined antibiotherapy. Pathogenic microorganisms such as Escherichia coli, Proteus mirabilis, Pseudomonas aeruginosa, Klebsiella pneumoniae, Morganella morganii and Enterococcus raffinosus were grown in urine cultures, Staphylococcus aureus and Enterococcus faecium in blood cultures. 59.3% of the children with neurological diseases were receiving antiepileptic treatment. Valproic acid 24.6%, levetiracetam 20.0%, phenobarbital and carbamazepine were used at 10.8% frequency. Conclusion: The most common infectious disease in hospitalized children with neurological disease is lower respiratory tract infections. Although cephalosporin is mostly preferred in mono-antibiotherapy, carbapenem and glycopeptides come to the fore in combined therapy. It is important to know the infections that may develop in the follow-up of this group of patients and the possible causative pathogens for rapid and effective treatment and to reduce health costs.Öğe Contribution of Neutrophil/Lymphocyte Ratio, RDW, RPR, MPV and MPR Indexes to Febrile Seizure Diagnosis(Bursa Uludag Univ, 2020) Cokyaman, Turgay; Kasap, TolgaINTRODUCTION: In this study, it was aimed to investigate in detail the contribution of hemogram indices such as neutrophil/lymphocyteratio (NLR), red blood cell distribution width (RDW), RPR, MPR, mean platelet volume (MPV), and platelet count (PLT) to the diagnosis of febrile seizure (FS). MATERIALS and METHODS: 91 FS, 116 febrile disease and 100 healthy control cases were included in the study. Significant hemogram indices in favor of FS were determined as a result of double and triple group comparisons with appropriate statistical analyzes, and diagnostic cut-off values, sensitivity and specificity were calculated for FS diagnosis according to receiever operating characteristic (ROC) curve analysis. RESULTS: NLR index was significantly higher in the FS group. The median was 2.6 in the FS group, 1.6 and 0.7 in the febrile disease and healthy control groups, respectively (p<0.001). In the ROC curve analysis, the cut-off values, sensitivity and specificities of the NLR index for FS diagnosis were determined. The 1/ RPR index was found to be statistically significantly lower in FS group. It was found to be 20.5 in the FS group, 23.3 and 23.2 in the febrile disease and healthy control groups, respectively (p=0.003). Similar to the NLR, cut-off values, sensitivity and specificities were calculated for FS diagnosis in the ROC curve analysis within the 1/RPR index. CONCLUSIONS: NLR and 1/RPR indexes are cheap and easily accessible hemogram parameters that can contribute to the diagnosis of FS. They can be used simply by practitioners and pediatricians in emergency rooms and out patient clinicsÖğe Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases(Taylor & Francis Inc, 2022) Cokyaman, Turgay; Silan, FatmaIntroduction: We evaluated the contribution of array comparative genomic hybridization (aCGH) to the final diagnosis in children with neurocognitive disturbances or dysmorphic findings, but lacked a specific diagnosis. Materials and methods: Medical files of pediatric patients with neurocognitive disturbances who underwent aCGH analysis were reviewed retrospectively. Results: Of 155 patients, 77 copy number variations were detected and 50% (39/77) were considered causative. The aCGH's final diagnostic rate was 25.1% (39/155). Conclusion: With aCGH analysis, the diagnosis rate for patients with undiagnosed neurocognitive disturbances or dysmorphic syndrome may increase by 25-30%. If the phenotypic findings of the widely known neurocognitive disturbances cannot be identified during the initial clinical assessment, aCGH analysis may be beneficial.Öğe Evaluation of Hemogram Indices of Children with Epilepsy Receiving Short-Term Levetiracetam Treatment(Aves, 2022) Cokyaman, Turgay; Kasap, TolgaObjective: The effects of levetiracetam on hemogram parameters are comparable with other antiepileptics. This study aimed to compare the effects of levetirace-tam monotherapy for at least 6 months on hemogram indices with valproic acid. Methods: Cases aged 6-18 years who received levetiracetam (n = 42) or valproic acid (n = 46) monotherapy for at least 6 months were randomly selected. The hemogram data closest to the study cutoff point of those who completed a minimum of 6 months of monotherapy were recorded. White blood cell count, neutrophil count, lymphocyte count, red blood cell distribution width, platelet, mean platelet volume, neutr ophil /lymp hocyt e ratio, red cell distribution width to platelet ratio, mean platelet volume to platelet ratio, platelet to lymphocyte ratio, and lymphopenic case rates were compared between levetiracetam and valproic acid groups. Results: The number of lymphopenic cases (absolute lymphocyte < 1500/mm3) was higher in the levetiracetam group (n = 8) compared to the valproic acid group (n = 3) (log-rank analysis, P = .002). The lymphocyte count was found to be lower in the levetiracetam group compared to the valproic acid group (mean 2274 +/- 964 vs. 2523 +/- 653, P = .153). The neutr ophil /lymp hocyt e ratio (mean 2.4 +/- 2.3 vs. 1.6 +/- 1.3, P = .042) and platelet to lymphocyte ratio indices (mean 141 +/- 63 vs. 105 +/- 40, P = .002) associated with lymphocyte count were significantly higher in the levetiracetam group. Conclusion: Levetiracetam has more lymphopenia side effects than valproic acid. Viral, fungal, and opportunistic infections that develop during levetiracetam treatment may be due to lymphopenia. In cases deemed necessary, absolute lymphocyte count, lymphocyte subgroup analysis, and serum immunoglobulin levels should be reviewed.Öğe Evaluation of the diagnostic value of clinical characteristics and situations associated with primary headache in children: International classification of headache Disorders-3 edition(Elsevier, 2020) Cokyaman, Turgay; Aylanc, HakanObjective: In the childhood period, diagnosis of primary headache is based on anamnesis essentially. This study investigated the effects of characteristics of headache (type of pain, localization and attack time), family migraine history and total duration from onset of headache to clinical diagnosis on primary headache diagnosis. Patients and Methods: Headache history was taken from children aged 6-18 years with a suitable form of International Classification of Headache Disorders, 3rd edition. Children's demographic findings were recorded. Headache characteristics (type of pain, localization and attack time), whether there is family migraine history and total duration from onset of headache to clinical diagnosis were recorded and sensitivity and specificity were calculated. The effects of pulsatile pain, forehead localization, attack time >= 2 h, family history of migraine and total time from onset of headache to clinical diagnosis on final diagnosis of primary headache (migraine without aura or others) were also assessed with regression analysis. Results: Of a total of 277 patients, 52 % were diagnosed with migraine without aura. Regression analysis revealed that family history of migraine was the most determinant factor for migraine without aura diagnosis (OR 2.922, 95 %CI 1.622-5.264). This was followed by the pursuing risk coefficients for migraine without aura diagnosis in order of forehead localization (OR 2.751, 95 %CI 1.537-4.923), attack time of >= 2 h (OR 2.615, 95 %CI 1.406-4.864), nausea (OR 2.163, 95 %CI 1.192-3.924), pulsatile pain (OR 2.102, 95 %CI 1.185-3.729) and total duration (OR 1.973, 95 %CI 1.105-3.521). Conclusion: Family history of migraine and total duration of longer than 6 months from onset of headache to clinical diagnosis may be additional markers for migraine without aura diagnosis. Due to difficulties experienced in diagnosis of primary headache based on anamnesis in the childhood period, there is a need for additional diagnostic markers.Öğe Expression levels of KCNQ1 and KCNQ3 genes in experimental epilepsy model(Cukurova Univ, Fac Medicine, 2020) Coskun, Ozlem; Oztopuz, Ozlem; Cokyaman, TurgayPurpose: Status epilepticus (SE) is a highly common neurological disease in children, with recurrent generalized convulsions for more than 30 minutes, and when not controlled, neuronal damage occurs in the brain. The aim of this study was to evaluate the changes in KCNQ1 and KCNQ3 gene expression levels in the acute period after SE. Materials and Methods: In rats, an experimental SE model was created with Li-Pc. Study; female Wistar albino [250-350 g, 21 (n=7)] rats were used in 3 groups as SE, control and sham groups. The total RNA obtained from brain tissues was converted to cDNA, and gene expression levels of KCNQ1 and KCNQ3 genes were assessed by quantitative real-time PCR (qRT-PCR) method. Results: Statistically in SE group; compared to the control and sham groups, a significant difference was observed in the gene expression levels of the KCNQ1 and KCNQ3 ion channels. The KCNQ1 and KCNQ3 gene expression levels of the experimental group was found higher than the other groups. Conclusion: Determining the changes in mRNA expression levels of genes encoding K+ ion channels will help to better understand the pathological mechanisms that occur during epilepsy. In the SE experimental model created, it is believed that an increase in mRNA expression of KCNQ1 and KCNQ3 will lead to drug therapy studies planned for the future.Öğe High Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders(Taylor & Francis Inc, 2024) Cokyaman, Turgay; Ozcan, Eda Gul; Akbas, Nihan EcmelIntroduction: Nowadays, the diagnostic rate of childhood epilepsies is increasing rapidly in parallel with the advances in genetic technology. In this study, it was aimed to reveal the diagnostic yield of whole exome sequencing (WES) in children with epilepsy and neurodevelopmental disorders (NDDs). Methods: Children aged 1 to 17 years with epilepsy and NDD who underwent WES were included in this retrospective study. Demographic, epilepsy and NDD characteristics, and WES results were recorded. Results: WES was performed in 36.6% of cases. Various single nucleotide variants were detected in 86.3% of cases tested by WES, and the diagnostic yield on a case-by-case basis was found to be 50%. Discussion: The diagnostic yield of WES is quite high in children with epilepsy and NDDs without a definitive diagnosis. Revealing the genetic causes of childhood epilepsy brings up effective and individualized treatment options.Öğe Pediatric vestibular migraine: Diagnosis according to ICHD-3 criteria and the effectiveness of short-term CH prophylaxis(Elsevier Sci Ltd, 2022) Cokyaman, Turgay; Cetin, HuriyeObjective: Vestibular migraine (VM) is a rare migraine variant with limited information about its treatment in children. This study, it was aimed to evaluate the diagnostic characteristics of VM in children and the effectiveness of cyproheptadine hydrochloride (CH) prophylaxis. Methods: Patients aged 6-18 years who were diagnosed with VM and other primary headaches (OPHs) according to ICHD-3 diagnostic criteria and given oral CH prophylaxis for at least 3 months were included in the study. Response to CH prophylaxis was defined by the change in symptoms (worsening, no change, and improvement) monthly. Results: A total of 64 cases diagnosed with primary headache and given CH prophylaxis were identified. 40.6% (29) migraine without aura of patients, 34.4% (22) VM, 14.1% (9) tension type headache, 4.7% (3) benign paroxysmal vertigo, 3.1% (2) migraine with aura and 3.1% (2) were diagnosed with abdominal migraine. Compared to OPHs, it was found that the duration of headache attack was shorter (p .013) and vomiting, which is one of the associated symptoms, was observed less in pediatric VM (p .032). The positive response of the whole study population to CH prophylaxis was 85.9%. However, CH prophylaxis responses were higher in VM compared to OPHs at the end of 1 month (63.6%) and 2 months (86.3%). Conclusion: In the pediatric population, the migrainous characters of VM may show differences, but its response to short-term CH prophylaxis is quite good.Öğe Use of ICHD-3rd diagnostic criteria in determining the prevalence of migraine in childhood; school-based cross-sectional questionnaire study(Taylor & Francis Ltd, 2024) Cokyaman, Turgay; Erdem, Ulgen OzcanObjectiveThis study aimed to determine the relationship between migraine prevalence and its diagnostic features in school children.MethodsThis study was conducted on children aged 10-18 year who were randomly selected from 22 middle and 26 high schools. Questionnaires were prepared in Turkish with demographic (9 items) and headache characteristics (ICHD-3rd-based headache screening questionnaire, 11 items).ResultsA total of 1450 surveys were properly filled out. Female/male ratio was 798/652 (55%divided by 45%) and the mean age was 14.4 years +/- 2.1. 96.4% of the population in this study. According to the criteria of headache attack number (>= 4 attacks), character (pulsatile) and duration (>= 1 h), the prevalence of migraine in the studied population was 23.1%.ConclusionPopulation-based studies are important because they provide information on diagnosing migraine, which is a public health priority in childhood, and contribute to creating the world migraine atlas. Although additional diagnostic clues are needed to determine the prevalence of migraine in childhood, we still widely use headache screening questionnaires based on ICHD-3rd.
