Person: İŞCAN, AKIN
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Publication Metadata only Evaluation of carotid intima-media thickness, a marker of subclinical atherosclerosis, in children with cerebral palsy(2012-06-01) Cece, Hasan; Yetisgin, Abdulkadir; Abuhandan, Mahmut; Yildiz, Sema; Calik, Mustafa; Karakas, Omer; Karakas, Ekrem; Iscan, AKIN; İŞCAN, AKINRespiratory and cardiovascular diseases are the most common causes of death in children with cerebral palsy.Publication Metadata only A CASE OF L-2 HYDROXYGLUTARIC ACIDURIA PRESENTING AS FEBRILE SEIZURE(2014-01-01) Calik, M.; Tuncer, F. N.; Sarikaya, S.; Karakas, O.; Cece, H.; Iscan, AKIN; İŞCAN, AKINA case of L-2 hydroxyglutaric aciduria presenting as febrile seizure: L-2 hydroxyglutaric aciduria (L2HGA) is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. A case is reported here of L2HGA presenting with macrocephaly and febrile seizure. Although there have been reports of epilepsy associated with L2HGA, to the best of our knowledge this is the second case in literature of febrile seizure in a patient with L2HGA. This report suggests that detailed neurological evaluation of macrocephalic children with febrile convulsion is important. Moreover, metabolic and genetic investigations may be necessary for these kinds of patients.Publication Metadata only MRS features during encephalopathic crisis period in 11 years old case with GA-1(2015-05-01) Kurtcan, SERPİL; AKSU, Banu; Alkan, ALPAY; GULER, Serhat; Iscan, AKIN; KURTCAN, SERPİL; ALKAN, ALPAY; İŞCAN, AKINGlutaric aciduria type-1 (GA-1) is a disorder of amino acid metabolism. The usual clinical-onset is an acute encephalopathic crisis in early childhood. There are only a few cases diagnosed in older age groups. MRI features of the disease are well defined. However, there are limited number of studies concerning advanced neuroimaging findings. We present DWI and MRS findings of an 11 year-old GA-1 patient admitted with an encephalopathic crisis. Diffusion restrictions in bilateral basal ganglia, corpus callosum and periventricular deep white matter were observed. In left occipital periventricular white matter and left basal ganglia, mild increased Cho/Cr and MI/Cr ratios and decreased NAA/Cr ratio were detected. Also inverted double lactate peak (TB: 135 ms) was present at 1.33 ppm in the left basal ganglia. In addition to these findings, a peak at 1.56 ppm above the baseline was seen on both short and long echo-time MRS in left occipital lobe deep white matter which may show accumulation of degradation products of amino acids in the GCDH enzyme deficiency. (Cd) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.Publication Metadata only The impact of epilepsy on preschool children and their families(2016-09-01) Tanriverdi, MÜBERRA; Mutluay, Fatma Karantay; TARAKCI, Devrim; GULER, Serhat; Iscan, AKIN; TANRIVERDİ, MÜBERRA; İŞCAN, AKINThis study investigated the possible presence of sensory-motor developmental impairments in preschool children with epilepsy and explored epilepsy impact on their activities and quality of life and on the stress load of their family.Publication Metadata only Prognosis and demographic characteristics of SSPE patients in Istanbul, Turkey(2015-06-01) GULER, Serhat; KUCUKKOC, Mehmet; Iscan, AKIN; İŞCAN, AKINAim: SSPE is a rare progressive, invariably fatal long-term complication of measles infection. In this study, we assessed the demographic and prognostic characteristics of 64 consecutive SSPE patients diagnosed at a tertiary center.Publication Metadata only A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family(2015-07-01) Tuncer, FN; Altıokka uzun , G; Gormez, Z; Calik , M; Yuksel, B; Sagiroglu, MS; Iscan, AKIN; Yuceturk , B; Ugur Iseri, SA; Bebek, N; Baykan, B; Ozbek , U; İŞCAN, AKINA consanguineous family from Turkey having two children with intellectual disability exhibiting myoclonic, febrile and other generalized seizures was recruited to identify the genetic origin of these phenotypes. A combined approach of SNP genotyping and exome sequencing was employed both to screen genes associated with Dravet syndrome and to detect homozygous variants. Analysis of exome data was extended further to identify compound heterozygosity. Herein, we report identification of two paternally inherited genetic variants in SCN1A (rs121917918; p.R101Q and p.I1576T), one of which was previously implicated in Dravet syndrome. Interestingly, the previously reported clinical variant (rs121917918; p.R101Q) displayed mosaicisnn in the blood and saliva of the father. The study supported the genetic diagnosis of affected children as Dravet syndrome possibly due to the combined effect of one clinically associated (rs121917918; p.R101Q) and one novel (p.I1576T) variants in SCN1A gene. This finding is important given that heterozygous variants may be overlooked in standard exome scans of consanguineous families. Thus, we are presenting an interesting example, where the inheritance of the condition may be misinterpreted as recessive and identical by descent due to consanguinity and mosaicism in one of the parents. (C) 2015 Elsevier B.V. All rights reserved.Publication Metadata only PD-1 Gene Polymorphism in Children with Subacute Sclerosing Panencephalitis(2013-08-01) Piskin, Ibrahim Etem; Calik, Mustafa; Abuhandan, Mahmut; KOLSAL, Ebru; Celik, Sevim Karakas; Iscan, AKIN; İŞCAN, AKINSubacute sclerosing panencephalitis (SSPE) is a progressive inflammatory and degenerative disorder of the central nervous system. Several factors influence the risk of chronic brain infection with the mutant measles virus. However, to date, no pathogenic mechanism that may predispose to SSPE has been determined. Studies have indicated that specific polymorphisms in certain host genes are probably involved in impairing the ability of host immune cells to eradicate the measles virus in SSPE patients. Programmed cell death protein 1 (PD-1), a member of the CD28 family, is a negative regulator of the immune system. The purpose of our study was to investigate whether PD-1 gene polymorphisms affect susceptibility to the development of SSPE in Turkish children. In total, 109 subjects (54 SSPE patients and 55 healthy controls) were genotyped for the PD-1.9 C/T (rs2227982) single-nucleotide polymorphism (SNP). The distributions of T alleles in the PD-1.9 polymorphism in SSPE patients and healthy controls were 2.8 and 10.9%, respectively. There was a statistically significant difference between the groups; the 95% confidence interval (CI) was 0.06 to 0.85 and the odds ratio (OR) was 0.23 (chi(2) test). Thus, we identified an association between SSPE and the PD-1 rs2227982 gene polymorphism; the frequency of T alleles was higher in controls than in SSPE patients.Publication Metadata only Severe neurobrucellosis in a young infant(2012-09-01) Calik, Mustafa; Iscan, AKIN; Gul, Mustafa; DERME, Turan; Cece, Hasan; Torun, M. Fuat; İŞCAN, AKINPublication Metadata only The oxidative and antioxidative status of simple febrile seizure patients(2013-05-01) Abuhandan, Mahmut; Calik, Mustafa; Taskin, Abdullah; Yetkin, Ilhan; Selek, ŞAHBETTİN; Iscan, AKIN; SELEK, ŞAHABETTİN; İŞCAN, AKINObjective: To evaluate the oxidative status following a seizure in children experiencing a simple febrile seizure.Publication Metadata only The acute effects of physiotherapy on general movement patterns in preterm infants: A single-blind study(2019-04-01) Kepenek-Varol, Busra; Tanriverdi, MÜBERRA; Iscan, AKIN; Alemdaroglu-Gurbuz, Ipek; TANRIVERDİ, MÜBERRA; İŞCAN, AKINBackground: The General Movement Assessment (GMA) is a video analysis method developed by Heinz Prechtl that examines the infant-s spontaneous movements. In recent years, although many studies have been performed in preterm infants by applying GMA, few studies have shown the effects of early intervention on GMA.