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Semra Kurul

Publications and source records attributed to Semra Kurul.

17 recordsLinked to original sources
PubMed2006

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

Walker--Warburg syndrome (WWS), the most severe alpha-dystroglycanopathy, is characterized by brain and eye anomalies, and congenital muscular dystrophy (CMD). So far at least four genes (POMT1, POMT2, Fukutin, and FKRP gene) have been implicated in WWS, accounting for about 30% of all cases. We report a male patient with WWS resulting from a homozygous nonsense mutation (R514X) in the POMT1 gene. The patient had congenital hydrocephalus which was detected at 29 weeks of gestation. A brain MRI obtained after birth revealed type II lissencephaly, hydrocephalus, and pontocerebellar hypoplasia. The case also exhibited severe ocular malformations and muscular hypotonia due to CMD.

Codon, Nonsense↗
PubMed2006

Prevalence and characteristics of recurrent headaches in Turkish adolescents.

The objectives of this study were to determine the prevalence and characteristics of recurrent headaches and to investigate the sociodemographic differences between high school students with or without recurrent headaches from Izmir, Turkey. Multistep, stratified, cluster sampling method was used in this analytic, school-based cross-sectional study. Twenty-one schools were selected randomly, and 2384 preparatory, first-, second-, and third-grade high school students from 84 different classrooms constituted the study cohort. The prevalence of recurrent headaches was 45.7% (1090/2384). Female students had a significantly higher headache frequency than males (P = 0.000). No significant relationship was evident between age and headache (P = 0.065). Also, there were no significant differences between the adolescents with or without headache for variables such as parental divorce (P = 0.052), existence of a step parent (P = 0.32), people with whom the students live at home (P = 0.186), number of siblings (P = 0.37), and maternal and paternal educational levels (P = 0.62 and P = 0.15, respectively). Headache frequency was higher when the income level of the student's family was lower (P = 0.016). Among the students who had headaches, 53.3% had a medication, 37.3% were referred to a physician, and in 27.2% of them a diagnosis was established. School absenteeism with a ratio of 26.5% was a common problem among the students with headaches. These results indicate that approximately one half of Turkish high school students have recurrent headaches which reduce the quality of their lives.

Adolescent↗
PubMed2006

Parental attitude of mothers, iron deficiency anemia, and breath-holding spells.

The aim of this study was to investigate the effect of family structure and the attitude of mothers on the development of breath-holding spells. The data of the Sociodemographic and Parental Attitude Research Instruments of 30 mothers of children with breath-holding spells and of 30 mothers of healthy children were compared. The subjects were also evaluated for iron deficiency anemia and by age-related developmental test. No significant difference was observed between the two groups in the results of the Sociodemographic and Parental Attitude Research Instruments. Iron deficiency anemia was found to be significantly higher in the group of mothers of children with breath-holding spells compared with the control group. This study suggests that iron deficiency anemia rather than behavioral or psychosocial problems of mothers plays a role in the development of breath-holding spells.

Anemia, Iron-Deficiency↗
PubMed2006

Nonconvulsive status epilepticus and neurodevelopmental delay.

Nonconvulsive status epilepticus is characterized by continuous or near continuous epileptiform discharges on electroencephalography without overt motor or sensory phenomena. It is a symptomatic condition related to a disease such as epileptic encephalopathy or a metabolic disorder. Children with isolated nonconvulsive status epilepticus rarely present with global neurodevelopmental delay. This report describes an 18-month-old male who presented with global neurodevelopmental delay and decreased alertness in whom electrical status epilepticus during sleep, which is a form of nonconvulsive status epilepticus, was determined. Metabolic investigations and cranial magnetic resonance imaging were normal. He began to achieve developmental milestones after treatment with valproic acid. Although rare, pediatric neurologists and pediatricians must be aware of this condition in making the differential diagnosis of global neurodevelopmental delay and decreased alertness.

Anticonvulsants↗
PubMed2005

Diagnostic value of diffusion-weighted magnetic resonance imaging in pediatric cerebral diseases.

The purpose of this study was to detect the diagnostic value of diffusion-weighted magnetic resonance imaging in different pediatric cerebral diseases involving the cerebral white and gray matter and to compare the diffusion properties with age-matched normal children. Conventional and diffusion-weighted magnetic resonance imaging were performed in 21 children with various neurologic disorders and 25 normal control subjects. Apparent diffusion coefficients were measured from the brain lesions and 12 normal-appearing white and gray matter areas in the study group. Twelve normal-appearing areas were also measured in the control group. Apparent diffusion coefficient values obtained from the normal subjects were similar to values described in the literature but were significantly different from the control subjects. Apparent diffusion coefficient values for the neurodegenerative disease group (n = 8), the anoxic encephalopathy group (n = 4), the subacute sclerosing panencephalitis group (n = 4), the acute disseminated encephalomyelitis group (n = 3), and the encephalitis group (n = 2) were respectively between 0.29-1.85 x 10(-5) cm2/s, 0.13-1.87 x 10(-5) cm2/s, 0.96-1.57 x 10(-5) cm2/s, 0.49-0.73 x 10(-5) cm2/s, and 0.42-1.50 x 10(-5) cm2/s. Although this study is limited because of the size of the patient sample and disease heterogeneity, diffusion-weighted magnetic resonance imaging provides useful and complementary information regarding the degree of involvement in different pediatric neurologic disorders.

Diffusion↗
PubMed2004

Frequent vaccination and immune complex deposition in unilateral nephrectomized mice.

The aim of this study was to investigate the effect of increased number and frequency of vaccination on immune complex deposition in the choroid plexus and glomeruli of non-nephrectomized and unilateral nephrectomized mice. Fifty-five non-nephrectomized, 40 nephrectomized, and 7 control Swiss albino mice were used. Half of each group was vaccinated only with diphtheria-tetanus and the other half with multiple vaccines, which are used in pediatric practice. Each group was divided into subgroups, which were vaccinated with increasing frequency. No immune deposits were detected in the choroid plexus of any vaccinated mice. There were immune deposits in glomeruli in 2 of 55 (3.6%) of the non-nephrectomized and in 3 of 40 (7.5%) of the nephrectomized mice (P=0.199). The difference between the diphtheria-tetanus and multiple vaccine groups in non-nephrectomized (P=0.236) and nephrectomized (P=1.000) mice was not significant. A significant positive correlation between increased frequency of vaccination and glomerular immune complex deposition 8 weeks after the last immunization was detected in the multiple vaccine group of nephrectomized mice (P=0.048, r=0.447). Our results suggest that the large number and frequent doses of vaccines would not lead to immune complex deposition in choroid plexus and do not significantly increase the deposition of immune complexes in glomeruli in unilateral nephrectomized mice compared with non-nephrectomized mice.

Animals↗
PubMed2004

Proton magnetic resonance spectroscopy in three subacute sclerosing panencephalitis patients: correlation with clinical status.

INTRODUCTION: Subacute sclerosing panencephalitis is progressive, fatal encephalitis caused by a persistent defective measles virus in the central nervous system. The diagnosis is based upon characteristic clinical manifestations, the presence of characteristic periodic EEG discharges, and demonstration of elevated antibody titer against measles in the plasma and cerebrospinal fluid. There has been no correlation between the clinical status and the MRI findings. METHODS: We performed single voxel magnetic resonance spectroscopy (MRS) on white matter areas that appeared normal or abnormal on conventional MRI in three patients with different clinical stages. RESULTS: N-acetyl aspartate:creatine ratios were decreased and choline:creatine ratios were increased in white matter lesions in the late stages of the disease. A lactate peak was observed in a patient in the last stage of the disease. Increased myoinositol:creatine ratio was seen in white matter areas on conventional MRI and in the white matter lesions at early stage of the disease, before neuronal loss.

Aspartic Acid↗
PubMed2004

Glutaric aciduria type 1: proton magnetic resonance spectroscopy findings.

Glutaric aciduria type 1 is an inborn error of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-coenzyme A dehydrogenase. The disease often appears in infancy with an encephalopathic episode that results in acute basal ganglia and white matter degeneration. The neuroimaging findings in glutaric aciduria type 1 have been well defined. However, the changes in magnetic resonance spectroscopy, a noninvasive tool for identifying the biochemical state of the brain, are scarce in glutaric aciduria type 1. This report presents the magnetic resonance spectroscopy findings in a 19-month-old male with glutaric aciduria type 1. Magnetic resonance spectroscopy of right frontal white matter and right lentiform nuclei revealed decreased N-acetylaspartate/creatine ratio, slightly increased choline/creatine ratio, and increased myoinositol/creatine ratio, compared with the age-matched control patients. We thought that these changes were in accordance with neuroaxonal damage, demyelination, and astrocytosis in these areas. In conclusion, proton magnetic resonance spectroscopy provides a tool for assessing metabolic disturbances and the extent of brain damage noninvasively in glutaric aciduria type 1.

Brain Diseases, Metabolic, Inborn↗
PubMed2004

Agyria-pachygyria complex: MR findings and correlation with clinical features.

The aim of this study was to determine the spectrum of clinical abnormalities in the agyria-pachygyria complex, to identify possible causes, and to correlate the clinical features with the extent of the lesions on magnetic resonance imaging. On the basis of the magnetic resonance imaging findings, 37 patients (22 males, 15 females; mean age 21.1 +/- 31.2 months) with agyria-pachygyria complex were separated into two groups: Group 1 (18 children) manifested generalized or bilateral gyral malformation, and Group 2 (19 children) manifested localized or unilateral gyral malformation. The ratio of generalized seizures in Group 1 was significantly higher, whereas partial seizures were more common in Group 2. Group 1 patients had seizures significantly more frequently than Group 2 patients. Diffuse electroencephalographic abnormalities were significantly more common in Group 1, as were the localized abnormalities in Group 2. Hemipareses were the most frequent neurologic deficit among Group 2 patients. Spastic quadriparesis and microcephaly were more common in Group 1. In conclusion, the extent of agyria-pachygyria complex varies widely and the clinical features are accordingly diverse. Patients with bilateral or generalized gyral anomalies have poor prognosis for outcome of epilepsy and neurologic disability. The recognition of these lesions with higher-resolution techniques of magnetic resonance imaging is important for planning proper treatment and genetic counseling.

Brain Diseases↗
PubMed2004

Assessment of child neurology outpatients with headache, dizziness, and fainting.

Neurologic symptoms such as headache, vertigo, dizziness, and fainting can create a diagnostic problem in pediatric neurology practice because they are also the most common presenting symptoms of psychiatric disorders. Children, especially adolescents, who are often admitted with such autonomic symptoms, are frequently misdiagnosed. In this study, we aimed to investigate the psychiatric morbidity and comorbidity rate in children and adolescents presenting with neurologic symptoms such as headache, vertigo, and syncope. We investigated 31 children who presented with these symptoms. All children were evaluated for their medical history and had a physical and neurologic examination. We attempted to rule out a possible organic etiology. All patients received a complete laboratory examination (blood count, electroencephalography), pediatric cardiology and otorhinolaryngology consultations, and a caloric test. All patients were assessed according to Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) criteria. The majority of the patients (93.5%) received a psychiatric diagnosis according to the DSM-IV criteria. Most of these patients were adolescents and female. Psychosocial stressors such as academic problems, familial dysfunction, parental psychopathology, and child sexual abuse were associated with somatic symptoms. The results of this study demonstrated the importance of differential diagnosis and psychiatric comorbidity in a pediatric neurologic outpatient population. Treatment should be directed at biopsychosocial integrity, and a multidisciplinary treatment approach should be applied.

Adolescent↗
PubMed2003

Oxcarbazepine in the treatment of childhood epilepsy.

In this study, oxcarbazepine was began as monotherapy to evaluate the efficacy and safety of the drug. Forty-two patients (19 females, 23 males) with partial or generalized epilepsy more than 4 years of age were included (mean age, 11.9 +/- 3.4 years). The mean age at epilepsy onset 8.9 +/- 4 years. Complete blood count, liver function tests, electrolytes, lipid levels, electrocardiography, electroencephalography, and magnetic resonance imaging were performed in all patients. Oxcarbazepine dose was begun at 10 mg/kg/day twice daily and increased to 30 mg/kg/day at the end of the second week. Patients with inadequate seizure control even with the dose of 45 mg/kg/day or intolerable side effects were excluded. Intolerable headache and leukopenia led to discontinuation of the drug in two patients. At the sixth month, 35 of the patients (87.5%) were seizure free (91.7% of the generalized epilepsy patients and 81.2% of the partial epilepsy patients). The most frequent tolerable side effect was drowsiness in 12 patients. As a result, we found oxcarbazepine safe and effective in children with either generalized or partial epilepsy.

Adolescent↗
PubMed2003

Schilder's disease: case study with serial neuroimaging.

Schilder's myelinoclastic diffuse sclerosis is a rare sporadic demyelinating disease that usually affects children between 5 and 14 years old. The disease often mimics intracranial neoplasm or abscess. We report a 9-year-old girl with Schilder's disease who presented with left hemiparesis. Cranial computed tomography and magnetic resonance imaging (MRI) showed large lesions in the subcortical white matter of the occipital and parietal lobes of both hemispheres that were indistinguishable from an abscess. A cerebrospinal fluid oligoclonal band test was found positive. A diagnosis of acute disseminated encephalomyelitis was then suspected. Serial MRI examinations revealed regression of parenchymal lesions, but there were new developing corpus callosum lesions. After 2 months, the patient presented with right-sided visual loss. MRI examination revealed a right optic nerve lesion. The patient had a dramatic clinical response to corticosteroid therapy. Subsequent control MRI examination revealed regression of both lesions. At 24 months of observation, the patient continued to do well without any complaints or neurologic sequelae.

Administration, Oral↗
PubMed2003

Serum carnitine levels during oxcarbazepine and carbamazepine monotherapies in children with epilepsy.

Prolonged antiepilepsy drug treatment can result in secondary carnitine deficiency. The effect of oxcarbazepine on carnitine metabolism has not been reported previously. In this study, serum concentrations of total and free carnitine were measured in 20 children with epilepsy treated with oxcarbazepine monotherapy and were compared with 20 children with epilepsy who were taking carbamazepine as monotherapy. The assays were performed between 3 and 6 months of anticonvulsant treatment. The mean values of serum total and free carnitine levels in patients receiving carbamazepine monotherapy were 63.0 +/- 20.7 micromol/L and 49.1 +/- 16.7 micromol/L, respectively. The mean values of serum total and free carnitine levels in patients receiving oxcarbazepine monotherapy were 64.2 +/- 17.4 micromol/L and 50.3 +/- 13.7 micromol/L, respectively. The values were all between normal ranges. No significant difference was observed in the level of total and free carnitine levels between the two groups. Our results suggest that neither oxcarbazepine nor carbamazepine as monotherapy causes carnitine deficiency in otherwise healthy children with primary idiopathic epilepsy.

Adolescent↗
PubMed2002

Relationship of epilepsy-related factors to anxiety and depression scores in epileptic children.

Cognitive and behavioral impairments are found more often among epileptic children than among their peers. In this study, we evaluated the anxiety and depression in epileptic children to compare their results with that of a healthy control group and to determine the relationship of anxiety and depression scores to epilepsy-related factors. The State Trait Anxiety Inventory (STAI) and Children's Depression Inventory (CDI) were applied to 35 patients with epilepsy aged 9 to 18 years (mean age 12.9 +/- 2.52 years) and to 35 healthy children who served as the control group. Both study and control groups were divided into two age groups (9 to 11 and 12 to 18 years) to exclude the effect of puberty on anxiety and depression scores. Significant depression and suicidal ideation were determined in the study group. The mean trait anxiety score was significantly higher in the 9- to 11-year age group of epileptic patients than the corresponding control group (35.90 +/- 6.90 and 29.33 +/- 2.84, P < .05). The mean state anxiety score (33.90 +/- 3.90 and 30.40 +/- 6.02, P < .05), trait anxiety score (38.20 +/- 6.84 and 32.20 +/- 3.90, P < .05), and depression score (16.65 +/- 8.32 and 8.15 +/- 3.15, P < .05) were significantly higher in the 12- to 18-year age group of epileptic children than in the control group. Among the epilepsy-related factors, whereas epilepsy duration, seizure frequency, and polytherapy were determined to increase anxiety and depression, age of seizure onset, seizure type, and electroencephalographic findings were not related to anxiety and depression. Symptoms of anxiety and depression are common among epileptic children, especially during puberty. The State Trait Anxiety Inventory and Children's Depression Inventory may be used as a tool to provide information to clinicians.

Adolescent↗
PubMedDate not supplied

Aorta coarctation presenting with intracranial aneurysm rupture.

Most vascular diseases have a tendency to affect both heart and the brain. Intracranial aneurysms are more often found in patients with aorta coarctation than in general population, and aneurysm rupture occurs much earlier in these patients. Here, we report a case of aorta coarctation which was diagnosed with its cerebrovascular complications. Before presenting with cerebrovascular complications, the disease can easily be diagnosed with physical examination and non-invasive radiological investigations like echocardiography or cardiac magnetic resonance imaging.

Adolescent↗
PubMedDate not supplied

Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.

We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.

Adolescent↗