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Öğe Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria(SAGE PUBLICATIONS INC, 2016) Kartal, Ayse; Aydin, KursadAspartylglucosaminuria is a rare lysosomal storage disorder that occurs as a result of a deficiency of the aspartylglucosaminidase enzyme. Because the disease is commonly referred to as the Finnish disease heritage, it is underdiagnosed outside of Finland. To date, only three Turkish patients are described in the literature. Here we describe the clinical and brain magnetic resonance imaging findings in two Turkish cousins with aspartylglucosaminuria, which can raise the suspicion of this rare disease in clinical practice.Öğe Can High-Dose Levetiracetam Be Safe? A Case Report of Prolonged Accidental High-Dose Levetiracetam Administration and Review of the Literature(LIPPINCOTT WILLIAMS & WILKINS, 2017) Kartal, AyseLevetiracetam is an antiepileptic drug that has been used both as adjunctive therapy and monotherapy in pediatric patients with epilepsy. We report a patient with cerebral palsy and epilepsy who took 200 mg/kg per day of levetiracetam for 55 days with no apparent adverse effects. Four other cases of accidental overdose were found in the literature; none of these was associated with any apparent adverse effects. These findings suggest that, in at least some cases, levetiracetam doses much higher than the recommended maximum of 60 mg/kg per day can be administered without apparent adverse effects.Öğe Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?(MEDKNOW PUBLICATIONS & MEDIA PVT LTD, 2016) Kartal, AyseMucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is challenging in both adults and children. This diagnostic challenge has been associated with the high incidence of false negative results encountered on urinary screening tests. We herein describe Sanfilippo-A syndrome in a pediatric patient who presented with progressive hyperactivity, delayed language, and developmental delay and a negative urine screening test. We emphasized that these findings may serve as possible initial presentations of MPS IIIA; therefore, screening for MPS should be done in all patients with unexplained psychomotor retardation and progressive hyperactivity.Öğe The effects of risk factors on EEG and seizure in children with ADHD(SPRINGER HEIDELBERG, 2017) Kartal, Ayse; Aksoy, Erhan; Deda, GuelhisAttention-deficit hyperactivity disorder (ADHD) is one of the most commonly seen developmental disorders in childhood. Its etiology, however, is not well known even though bio-psycho-social reasons have been thought to play a big role. The aims of this retrospective study are to identify the risk factors of ADHD in patients diagnosed with ADHD in childhood, analyze the relationship between clinical symptoms and risk factors to which they were exposed and determine their effects on prospective electrophysiological findings. Longitudinal cohort study of all children with ADHD treated at Ankara University Medical University during 2007-2012, with follow-up to ascertain risk factors and seizure and EEG abnormalities outcome. Multinominal univariate logistic regression analysis was used to calculate adjusted risk ratios (RRs) and 95% confidence intervals (CIs) for associations. Epileptiform discharges were found in 32 (22.9%) of the 140 ADHD patients. Of these, 71.9% had focal epileptiform discharges and 28.1% had generalized epileptiform discharges. The focal epileptiform discharges were most prevalent from the rolandic area. Among the 140 patients, 20 (14.3%) had a previous history of seizure, and all twenty had epileptiform discharges on EEG whereas none of the patients who had normal EEG had a seizure history. The rates of epileptiform discharges were significantly related to gestational age and asphyxia (RR: 1.8, 95% CI 0.3, 9.3; RR: 9.6, 95% CI 2.3, 40, respectively), whereas the rates of epilepsy were related to asphyxia but not gestational age. History of asphyxia and prematurity do seem to increase the risk of EEG abnormality in patients with ADHD. Modification of these environmental risk factors by evidence-based prevention programs may help to decrease the burden of ADHD.Öğe Facial palsy in cerebral venous thrombosis: An atypical case in a young girl(MEDKNOW PUBLICATIONS & MEDIA PVT LTD, 2017) Kartal, AyseCerebral venous thrombosis (CVT) is a rare and potentially life-threating cause of stroke. A number of etiologies and risk factors for CVT have been identified so far. These include head trauma, local and systemic infectious diseases, malignancies, autoimmune diseases, and oral contraceptive use. The most common clinical symptoms are headache and changes in consciousness. Cranial nerve palsy in CVT is uncommon, and there are very few reports of facial nerve palsy. This case report highlights an atypical manifestation in a CVT patient, who presented with peripheral facial palsy. The patient was successfully treated with anticoagulation.Öğe Hemidystonia in a Child With Neurofibromatosis Type 1(LIPPINCOTT WILLIAMS & WILKINS, 2016) Kartal, Ayse[Abstract not Available]Öğe High rates of malnutrition and epilepsy: two common comorbidities in children with cerebral palsy(TUBITAK SCIENTIFIC & TECHNICAL RESEARCH COUNCIL TURKEY, 2019) Aydin, Kursad; Kartal, Ayse; Keles Alp, EsmaBackground/aim: The aim of this study was to evaluate the nutritional status of children with cerebral palsy and determine the particular characteristics of the disorder. Materials and methods: The nutritional status of the children was assessed by the Gomez classification using weight-for-age. The Gross Motor Function Classification System was used to determine the gross and fine motor functions. Results: The study was conducted with 197 children (58.4% males) between the ages of 1 and 18 years old. Asphyxia (44.1%) was the primary etiological factor, and spastic quadriplegia (41.6%) was the most common type of cerebral palsy. Malnutrition was the most frequent comorbidity and the overall malnutrition rate was 76.6%. The most common type of malnutrition was severe malnutrition, which was seen in 70 patients (35.5%). Epilepsy was the second most common comorbidity, seen in 51.7% of the cases. Conclusion: Our results revealed a high rate of malnutrition and epilepsy in children with cerebral palsy. These two more common significant comorbidities that influence the outcomes of children with cerebral palsy should be carefully evaluated and successfully managed. Families of children with cerebral palsy and their physicians should be educated about the nutritional status in these children.Öğe Knowledge of, perceptions of, attitudes and practices regarding epilepsy among medical students in Turkey(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2016) Kartal, AysePurpose: Medical practitioners' attitudes have a significant impact on the quality of care for patients with epilepsy. This study was conducted to assess the current level of knowledge about epilepsy and treatment together with attitudes and perception toward patients with epilepsy among medical students in Turkey. Method: The study was conducted using a structured questionnaire to assess knowledge, awareness, and practices about epilepsy among medical students at Selcuk University, Konya, Turkey. Results: Eight hundred and ninety subjects were interviewed, and 73.5% reported their awareness about epilepsy. Of these, 38.1% knew someone who had epilepsy, and 38.5% had witnessed an epileptic seizure. Although most of the students had heard about epilepsy, 38.4% of the students believed that epilepsy was primarily a genetic disease. About one-fifth of the students attributed the causes of epilepsy to vitamin deficiency (8.8%) and psychiatric (19.1%), infectious (19.5%), mental (4.4%), and hematological disorders (3.4%). According to 4.8% of the students, epilepsy could be a punishment from God, and 2.1% of students thought that it could be caused by an evil spirit. Eighty-eight percent considered epilepsy as a dangerous disease, and most of them thought that epilepsy is a lifelong condition. Fifty point six percent indicated that putting an object into the patient's mouth to prevent tongue-biting during a seizure is appropriate while 91.9% stated that drug therapy was the only treatment available for epilepsy. The most common negative attitudes toward people with epilepsy were students' objection to marrying someone with epilepsy and patients with epilepsy having children. Conclusion: Misconceptions about the causes, treatment, and nature of epilepsy are common among medical students at a Turkish medical school. Negative attitudes toward patients with epilepsy still exist. Medical school training programs should be designed to increase awareness of students about epilepsy. (C) 2016 Elsevier Inc. All rights reserved.Öğe Mucopolysaccharidosis IIIA presenting with hyperckemia in a child(SPRINGER HEIDELBERG, 2017) Kartal, Ayse[Abstract not Available]Öğe Neurological findings spectrum in Celiac disease(TURKISH J PEDIATRICS, 2016) Aksoy, Erhan; Tiras-Teber, Serap; Kansu, Aydan; Deda, Gulhis; Kartal, AyseWe aimed to provide early diagnosis by determining possible Celiac disease related subclinical or symptomatic neurological abnormalities in children in order to decrease risk of mortality and morbidity. Children with Celiac disease were assessed with neurological examination, neurophysiological tests and neuroimaging. A total of 65 patients were included in the study. The neurological examination was abnormal in 4 patients. There were EEG abnormalities in 5 patients, VEP was abnormal in 7 patients, BAER was abnormal in 1 patient, ENMG was abnormal in 8 patients, and there were abnormal findings on neuroimaging in 2 patients. The Celiac disease related neurological complications that manifest in adulthood usually lay their foundations in childhood. Therefore, it must be kept in mind that subclinical neurological abnormalities may be related to Celiac disease, and Celiac disease may be the underlying cause in the patients with overt neurological abnormalities in childhood.Öğe Paroxysmal Tonic Upgaze in Children Three Case Reports and a Review of the Literature(LIPPINCOTT WILLIAMS & WILKINS, 2019) Kartal, AyseBackground: In clinical practice, nonepileptic paroxysmal events during infancy and childhood are common reasons for parents and caregivers to seek for medical advice. These events aremostly unrecognized and considered as an epileptic seizure because of the clinical features resembling an epileptic seizure. Paroxysmal tonic upgaze, which consists of recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness, is a diagnostic challenge for the pediatrician and pediatric neurologist. In general, the entity was defined as an apparently benign phenomenon with normal investigations and eventual complete resolution of the symptoms, although some authors reported on patients with associated neurologic signs, such as ataxia, developmental delay, and abnormal brain magnetic resonance imaging finding. Methods: The patients were 3 children (1 boy and 2 girls) who were between 5 and 18 months old experiencing rapid ocular movements with sustained conjugate upward deviation of the eyes. Their attacks, which were recorded using a video or electroencephalogram system, were also investigated comprehensively, including neurologic examination, electroencephalograms, brain magnetic resonance imaging, and metabolic tests. Paroxysmal tonic upgaze attacks have decreased in number or disappeared in 2 patients, but 1 patient exhibited mild abnormalities on magnetic resonance imaging and had relatives with epilepsy. Conclusions: In conclusion, paroxysmal tonic upgaze is an apparently benign phenomenon with unclear pathophysiology of various proposed mechanisms such as genetic predisposition, immaturity of the brain stem, neurotransmitter depletion, or immune dysregulation. It is important to recognize the clinical presentation of paroxysmal tonic upgaze and distinguish the disorders from epilepsy for deciding the treatment and prognosis of the patients.Öğe Primary intradural extraosseous Ewing's sarcoma in a young child(SPRINGER, 2016) Kartal, Ayse; Akatli, Aysenur[Abstract not Available]Öğe Sleep Disturbance in Children with primary headache(SPRINGER-VERLAG ITALIA SRL, 2017) Kartal, Ayse[Abstract not Available]Öğe A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene(SPRINGER/PLENUM PUBLISHERS, 2017) Kartal, Ayse; Aydin, KursadGalactosialidosis is an autosamal reressive lysosomal storage disease caused by a combined deficiency of lysosomal beta-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. We report here a female patient with early infantile galactosialidosis who was born at 35 weeks of gestation. After birth she remained at the neonatal intensive care unit. Physical examination revealed, coarse facial features, hepatomegaly, cardiac murmur and diffuse hypotonia. The patient's mother had a past history of fetal hydrops history. The diagnosis of galactosialidosis was confirmed by decreased activity of beta-galactosidase and undetectable neuraminidase activity in fibroblasts. Genetic examination revealed a new homozygous mutation (c.1284delG) in the CTSA gene.
