A5043990112- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neonatal and fetal brain pathology
- Neurogenetic and Muscular Disorders Research
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Infant Development and Preterm Care
- Venous Thromboembolism Diagnosis and Management
- Mitochondrial Function and Pathology
- Cerebral Palsy and Movement Disorders
- Blood Coagulation and Thrombosis Mechanisms
- Hereditary Neurological Disorders
- Family and Disability Support Research
- Neonatal Respiratory Health Research
- Glycogen Storage Diseases and Myoclonus
- Cerebral Venous Sinus Thrombosis
- Autoimmune Neurological Disorders and Treatments
- RNA modifications and cancer
- Vitamin K Research Studies
- Moyamoya disease diagnosis and treatment
- Neurological diseases and metabolism
- Fetal and Pediatric Neurological Disorders
- Coronary Artery Anomalies
- Nerve Injury and Rehabilitation
- Neurofibromatosis and Schwannoma Cases
Istanbul University
2014-2024
Kent Hastanesi
2019
Acıbadem Adana Hospital
2019
Türkisch-Deutsche Universität
2019
Gelişim Üniversitesi
2019
Bezmiâlem Vakıf Üniversitesi
2017
Sağlık Bilimleri Üniversitesi
2011
Fatih University Medical Faculty Hospital
2011
Eskişehir Osmangazi University
2008
Abstract Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms childhood-onset and hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis clinical, imaging molecular data 156 patients from 101 families. Enrolled were diverse ethnic backgrounds covered wide age range (1.0–49.3 years). While mean at symptom...
Oral motor dysfunction is a common issue in children with cerebral palsy (CP). Drooling, difficulties sucking, swallowing, and chewing are some of the problems often seen. In this study, we aimed to research effect oral therapy on pediatric CP patients feeding problems.Included single centered, randomized, prospective study were 81 aged 12-42 months who had been diagnosed CP, observed at Pediatric Neurology outpatient clinic Children's Health Diseases Department, Istanbul Medical Faculty,...
The aim of this study was to evaluate the thyroid function alterations in a group epileptic children taking antiepileptic drugs (AEDs). Patients demographic data and free throxine (fT4) thyroid-stimulating hormone (TSH) levels at beginning treatment third, sixth ninth months AED were recorded retrospectively. A total 106 children, 59 males 47 females, enrolled study. Mean patient age 3.7 years, ranging between 3 14 years. In total, 54% patients on valproic acid (VPA), 16% phenobarbital (PB),...
Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with syndrome. We evaluated clinical characteristics their response to stiripentol. retrospectively collected data 21 (11 females; mean age, 8.2 years, range: 5.4-15 years) who were treated stiripentol our outpatient clinic between June 2016 2017. Patients reduction ≥50% considered responders. Most had severe (47%) or moderate (33%) cognitive disabilities,...
Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with metabolism and physical growth rates in patients diagnosed spinal type 2 3. Material Methods: Twenty-six were included (15 for 11 3). Weights heights measured, standard deviation scores determined, body-mass index was calculated. Motor function pubertal assessment performed. Serum calcium, phosphorus, alkaline phosphatase,...
This study aims to retrospectively evaluate pediatric Guillain-Barré syndrome cases in a tertiary center Istanbul, Turkey.The data of 40 patients with who had been admitted the Department Pediatrics at Istanbul University Medical Faculty between 2005 and 2011 were collected. Mann-Whitney U, Kruskal-Wallis, chi-square, Fisher's exact tests used for statistical analysis.Mean patient age was 5.4 ± 3.0 years; 20 out (50%) female male. Preceding infection detected 32 (80%). Six speech impairment....
Developmental delay is a common pediatric problem, having great number of underlying causal factors. Etiologic diagnosis important for providing information about pathogenesis, prognosis, recurrence risk and specific medical interventions. The aim this study was to determine the etiologic yield spectrum consecutive cohort global developmentally delayed children.This retrospective included all children younger than 5 years age with developmental referred single university-based ambulatory...
Our objective was to characterize the etiologic factors and outcome for stroke in children. We retrospectively reviewed charts of patients between ages 40 days 94 months (36.5 +/- 23.7 months) with seen at Istanbul Medical Faculty, Department Pediatrics January 1995 December 2003. found 79 cases stroke: 57 ischemic 22 hemorrhagic strokes. Seventeen children had vitamin K deficiency dependent hemorrhage. In 14 occurred as a complication cardiac disease, 7 moyamoya 3 protein C deficiency, 2...
Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid 2-hydroxylase (FA2H) gene different loci are responsible for phenotypic variability. We aimed to define phenotype of SPG35 linked novel homozygous mutation c.160_169dup (p.Asp57Glyfs*48) FA2H gene, and compared with clinical characteristics neuroimaging findings patients gene. describe 5-year-old boy presenting paraplegia. He developed rapid loss ambulation at...