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    Investigation of Etiology, Treatment Outcomes and Risk Factors of Epilepsy in Down Syndrome
    (Galenos Publ House, 2022) Gurbuz, Gurkan; Samanci, Nedim
    Objective: Although epilepsy does not appear in the classic definitions of Down syndrome (DS), the prevalence of epilepsy is higher in these cases than in the general population. The purpose of this retrospective study was to evaluate the demographic, neuroradiological, and electrophysiological characteristics, and responses to treatment of patients with DS undergoing epileptic seizure. Methods: Karyotype analysis, time of onset of seizures, types of seizure, electroencephalography (EEG) characteristic, antiepileptic drug used, and comorbidity were considered during evaluation. EEG and magnetic resonance imaging at the time of first admission were assessed during patient evaluation. Results: Patients with DS (n=43) were enrolled in this study. Twenty-three of them were subjects with epilepsy. Seventeen (73.9%) of the 23 patients were boys and six (26.1%) were girls. The mean age of the patients was 21.7 months (standard deviation +/- 4.8), and mean age at onset of seizures was 12.6 months. Comorbidity other than epilepsy was present in 13 (56.5%) patients. The most common seizure type, in 14 cases (60.9%), was focal seizures, four of which involved epilepsy developing following stroke secondary to cardiac surgery. Hypothyroidism was observed in all six patients with epileptic spasm. Only four of 20 patients without epilepsy have non -neurologic comorbidities. Conclusion: This study may support the knowledge regarding the relationship between hypothyroidism and epilepsy in DS. Non -neurologic comorbidities are a significant risk factor for epilepsy in DS.
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    Radiological and Genetic Evaluation in Hypotonic Infants
    (Coll Physicians & Surgeons Pakistan, 2023) Gur, Selen; Gurbuz, Gurkan; Tozkir, Hilmi
    Objective: To investigate the importance and diagnostic yield of genetic and radiological evaluations in children with hypotonia. Study Design: Comparative observational study.Place and Duration of the Study: Department of Pediatrics Neurology, Namik Kemal University, Tekirdag, Turkey, between 2019 and 2022. Methodology: Patients' medical histories, laboratory results, radiological examinations, and genetic tests, if any, were obtained retro-spectively from the patients' clinic files. Children with hypotonia detected since the infantile period and who were on regular follow-up were included in the study. Patients who lost the follow-up were excluded.Results: Out of one hundred and seventy patients, 61.8% (n=105) were boys and 38.2% (n=65) were girls. The admission age of the patients ranged from 1 to 121 months; the mean age at presentation was 13.52 +/- 17.35 months. Hypotonia was central in 85.3% (n=145), peripheral in 12.4% (n=21), and mixed in 2.3% (n=4). Cerebral palsy was the predominant, non-genetic clinical cause of hypo-tonia (n=66, 39%). Brain magnetic resonance imaging (MRI) was normal in 48.2% (n=82). The most common MRI abnormality was periventricular leukomalacia in 15.9% (n=27). Sixty-five (38.2%) patients were diagnosed genetically. More than half of the patients with a genetic diagnosis were diagnosed by whole exome sequencing (WES). Conclusion: Brain MRI is the first choice for the patients with central hypotonia. Patients who cannot be diagnosed with clinical findings and brain MRI should undergo WES. This is helpful for the long-term prognosis and management.
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    A Retrospective Analysis of the Neurological Evaluation of Cases With Neonatal Hypoglycemia
    (Springernature, 2022) Gurbuz, Gurkan; Gur, Selen; Tufekci, Sinan; Halis, Hulya
    Introduction Hypoglycemia is a common treatable metabolic disorder in the neonatal period. It can cause several neurological problems if untreated. In this study, the neurological outcomes of cases with hypoglycemia in the neonatal period were examined retrospectively, and the study aimed to determine risk factors and prognostic factors. Methods In this retrospective study, cases were followed in the pediatric neurology outpatient clinic between 2019 and 2022, and patients with a history of hypoglycemia in the neonatal period were enrolled and analyzed retrospectively. The laboratory studies and clinical findings of the cases were obtained from follow-up records from the pediatric neurology outpatient clinic retrospectively. Physical examination findings, hypoglycemia levels, and symptoms of hypoglycemia, if any, were obtained retrospectively from the discharge files of the patients. Results A total of 70 cases were included in the study. Twenty-eight were girls and 42 were boys. Forty of the cases were preterm. The number of asymptomatic cases was 38, and the number of symptomatic cases was 32. There was no significant difference in regard to the mean lowest serum glucose levels between symptomatic and asymptomatic cases. Thirty-three of the patients had neurological problems such as neuromotor developmental delay, cortical blindness, and epilepsy. Abnormal magnetic resonance imaging (MRI) findings were detected in 30 of the symptomatic cases and eight of the asymptomatic cases. The rate of neurological sequelae in asymptomatic cases was found to be significantly lower than in symptomatic cases. Conclusions Patients who have a symptomatic hypoglycemic period, maternal gestational problems, and abnormal MRI carry a high risk for neurological sequelae, and these findings indicate poor prognosis.