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Biomedical subjects

Eray Dirik

Publications and source records attributed to Eray Dirik.

At least 19 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↗
PubMed2006

Adverse effects of antiepileptic drugs on bone mineral density.

The aim of this study is to determine the frequency of changes in biochemical markers of bone metabolism in children who are receiving valproic acid, carbamazepine, and oxcarbazepine. Thirty healthy children and 68 children with idiopathic epilepsy treated with either carbamazepine (n = 23), valproic acid (n = 31), or oxcarbazepine (n = 14) for more than 1 year were enrolled into the study. Blood samples were obtained in order to determine biochemical parameters (calcium, phosphorus, alkaline phosphates, parathormone, and 25-hydroxyvitamin D). Bone mineral density was measured with the dual-energy x-ray absorptiometry method. There were no significant differences in the serum concentrations of calcium, phosphorus, aspartate aminotransferase, alanine aminotransferase, and albumin levels between the four groups. However, serum alkaline phosphatase concentrations were higher in the patient group as compared with the control subjects. In patients receiving antiepileptic drugs, bone mineral density values were significantly lower than the healthy control group. In conclusion, long-term antiepileptic drug treatment either with valproic acid, carbamazepine, or with oxcarbazepine which has unknown effects on skeletal mineralization, induces a state of decreased bone mineral density.

Adolescent↗
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↗
PubMed2005

Sigmoid sinus thrombosis following mastoiditis: early diagnosis enhances good prognosis.

Sigmoid sinus thrombosis following mastoiditis is a rare, but potentially life-threatening, condition. Its treatment usually consists of systemic antibiotics and mastoidectomy. In this report, we describe a pediatric case of sigmoid sinus thrombosis following mastoiditis, presenting with nonspecific symptoms such as fever, otalgia, and headache. Diagnosis was based on magnetic resonance imaging. The patient responded very well to intravenous antibiotics with a rapid clinical improvement and complete recanalization of the thrombosed sigmoid sinus. In conclusion, mastoiditis may present few clinical symptoms. In case of treatment failure or new-onset neurologic deficit in children with acute otitis media, life-threatening complications associated with mastoiditis should be considered. Early diagnosis is important, as favorable prognosis can be achieved with conservative management without performing any surgical intervention.

Abducens Nerve Diseases↗
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

Comparison of brain perfusion SPECT and MRI findings in children with neuronal ceroid-lipofuscinosis and in their families.

PURPOSE: Neuronal ceroid-lipofuscinoses (NCL) are among the progressive encephalopathies of childhood that are inherited in an autosomal recessive manner. In this study we specifically aimed to investigate any white-matter changes in the carriers (parents) and the healthy siblings of individuals with neuronal ceroid lipofuscinosis disease and whether we may be able to predict the occurrence of any neurological symptoms in healthy children in the future thus enabling early management. MATERIALS AND METHODS: Since the NCLs are genetically determined diseases, we investigated fifteen individuals in three families that had diseased children of the juvenile type, with brain perfusion SPECT and MRI. Brain perfusion SPECT was performed after administering 222-555 MBq (6-15 mCi) Tc-99m HMPAO intravenously in a dimmed and quiet room. Imaging was performed at least one hour after injection, with a three headed gamma camera equipped with high resolution collimators. A Metz filter (FWHM: 11 mm) was used for processing. Cranial MRI was performed with an imager operating at 1.5 Tesla. Spin-echo T1- and T2-weighted and FLAIR slices were obtained for each individual. RESULTS: In all of the five diseased children we observed pathologic findings both on MRI and Tc-99m HMPAO SPECT. The findings on MRI were mainly features of cerebral and cerebellar atrophy and the observations on Tc-99m HMPAO SPECT were regional perfusion abnormalities. We observed some structural abnormalities on MRI in four of the parents and two of the four healthy siblings. We also noted perfusion abnormalities on Tc-99m HMPAO SPECT in two of the parents and two of the healthy siblings. CONCLUSION: Because the disease is inherited in an autosomal recessive manner, the parents and the healthy siblings were not supposed to exhibit any demonstrable brain lesions, but the brain perfusion SPECT and MRI examinations clearly revealed multiple lesions in some of the parents and healthy siblings. Detailed neurological examinations of these individuals were normal except for one apparently healthy sibling (EY). Follow-up imaging of these families is being undertaken and further studies are essential in understanding the pathogenesis and genetics of neuronal ceroid-lipofuscinoses.

Adolescent↗
PubMed2002

The prevalence of epilepsy amongst school children in Izmir, Turkey.

OBJECTIVE: The aim of this study was to assess the prevalence of epilepsy among school children between the ages of 7-17 in Izmir province, in Turkey. METHODS: A cross sectional study was conducted. Sample size is calculated as 4654, from the target population of 420054 students. A stratified random sampling technique was used to select the schools located in Izmir Metropolitan area. For the 130 (2.8%) students whose families gave a positive 'epilepsy history' a telephone interview was conducted in order to verify the diagnosis and to evaluate a etiological factors. RESULTS: Response rate was 90.5% (4216 students). Out of the 130 students who had a positive epilepsy history, 47 (36.2%) were accepted as epilepsy 'cases'. The crude prevalence rates for females, males and the total study population were found respectively to the 11.3, 11.1 and 11.2 per thousand. Prevalence of active epilepsy rates for females, males and total study population were found respectively to be 4.5, 7.0 and 5.6 per thousand. CONCLUSION: The prevalence of epilepsy is higher in school-age children in Izmir province compared to that in developed countries.

Catchment Area, Health↗