Şeref Demirkaya

Cytochrome P4501A1 genotypes and smoking- and hypertension-related ischemic stroke risk:

This study aimed to determine whether the coding (A4889G) and noncoding region (T6235C) polymorphisms of the gene coding for cytochrome P4501A1 (CYP1A1), a xenobiotic-metabolizing enzyme responsible for the metabolism of carcinogenic polycyclic aromatic hydrocarbons, are involved in the pathogenesis of ischemic stroke in Turkish population. Study group consisted of 226 ischemic stroke patients and 113 controls. Genotypes were attained by allele-specific polymerase chain reaction (PCR) for A4889G and PCR/restriction fragment length polymorphism analysis for T6235C. Frequency of 6235C allele was significantly lower in patients (0.151) compared with controls (0.226, P = 0.015). Prevalence of hypertension and hypertension-associated ischemic stroke risk was lower for 6235C allele carriers. This allele decreased ischemic stroke risk twofold (adjusted odds ratio = 0.48, P = 0.005). There was almost no difference in 4889G allele frequencies in patients (0.445) and controls (0.425). However, prevalence of hypertension was lower in 4889G allele carriers when compared with the wild-type genotypes. In addition, risk of ischemic stroke for smoker and hypertensive individuals was lower when they have at least one 4889G allele. The present study demonstrated that CYP1A1 genetic variants contribute to interindividual variability in smoking- and hypertension-induced ischemic stroke risk.

Auditory brainstem responses in children with congenital heart disease.

Abstract Background: Cyanotic congenital heart diseases usually lead to growth and developmental delay in children due to chronic hypoxemia and undernourishment that may affect the central nervous system. The auditory brainstem responses are determined to assess the maturation and function of the brainstem. Therefore, we used the auditory brainstem responses to investigate the effect of cyanotic congenital heart diseases on brainstem maturation.

SPECT and MRI findings in a case of extensive neuronal migration disorder

We report a 20-year-old male with epilepsy, mild mental retardation, growth asymmetry, and MRI and SPECT features of unilateral subcortical ectopic cortex. The neurological examination showed mild growth asymmetry, hemiparesis and hemihypoesthesia and pyramidal signs on the left side. EEG showed focal abnormality in the right frontotemporal region. MRI revealed pachygyria and severe heterotopia associated with some abnormalities of ventricles and cerebellum on the right. Cortical responses were absent on stimulation of the left median and tibial nerves. Central motor conduction time from cortex to left upper extremity was prolonged in magnetic stimulation test. SPECT using 99 mTc-HMPAO revealed increased perfusion of the right subcortical region as compared with those of overlying cortical mantle and opposite hemisphere. To our knowledge, there has been no report documenting such a large and extensive subcortical ectopic cortex which appears as a mass distorting and shifting the middle structure in an adult, such as in our case.

Genetic polymorphisms of vitamin D3 metabolizing CYP24A1 and CYP2R1 enzymes in Turkish patients with ischemic stroke

Abstract Objective Vitamin D deficiency is known as an important risk factor in pathogenesis of atherosclerosis, which contributes to stroke development. Genetic variations including single nucleotide polymorphisms (SNPs) in enzymes involved in vitamin D metabolism can affect susceptibility to the development of stroke. Therefore, the objective of this study was to investigate the association between polymorphisms of vitamin D metabolizing enzymes (rs927650 SNP in CYP24A1, and rs10741657 SNP in CYP2R1 genes,) and ischemic stroke risk in Turkish population. Materials and methods To test this hypothesis, we designed a case-control study which consisted of 256 ischemic stroke patients and 132 controls. Genotypes were determined by PCR-RFLP technique. Results No significant differences were found between patients and controls in terms of CYP24A1 rs927650 and CYP2R1 rs10741657 genotype frequencies. Polymorphic allele frequencies of CYP24A1 rs927650 and CYP2R1 rs10741657 were 0.414 and 0.660 in stroke patients, respectively. Conclusion This is the first study conducted regarding the association of CYP24A1 rs927650 and CYP2R1 rs10741657 genetic polymorphisms and ischemic stroke risk. The polymorphic genotypes of these polymorphisms, together with hypertension, diabetes, smoking, and obesity, were found as significant risk factors for ischemic stroke.

Horizontal gaze palsy due to an infarction of the frontal eye field

A 76-year-old man was admitted to the emergency department with a left gaze palsy, which started suddenly 6 h before admission. Prior medical history revealed hypertension for 7 years. The patient was a heavy smoker for 50 years. His neurological examination showed a horizontal gaze palsy to the left side (Fig. 1). Oculo-vestibular reflexes were normal. A cranial magnetic resonance imaging (MRI) showed an acute infarction of the right frontal eye field (FEF) (Fig. 2), as described in the literature [1, 2]. Electrocardiography and echocardiography were normal. Carotid artery Doppler-sonography revealed non-significant calcified plaques on both sides. The patient was treated by 300 mg/day acetylsalicylic acid. After 4 days, his gaze palsy fully recovered.

Clinical and laboratory features of progressive supranuclear palsy: five cases retrospective analysis -

Progressive supranuclear palsy (PSP) is a form of neurodegenerative disease which affects the brainstem and basal ganglia. Patients present supranuclear ophthalmoplegia, postural instability and mild dementia. We analyzed five cases of PSP from 1 January 2005 to 31 December 2009. All patients underwent a memory test, autonomic examination, brain magnetic resonance imaging (MRI) and they evaluated by formal neurologic examination. All were taking L-dopa or dopamine agonists. At the onset of PSP the initial diagnosis was Parkinson’s disease in all patients. The brain MRI findings were revealed severe midbrain atrophy, while mini-mental state examination disclosed cognitive impairment, with predominant subcorticalfrontal involvement. Autonomic tests were failure in three of the patients. We emphasize the still obvious current difficulty in diagnosing PSP at an early stage in clinical practice. Therefore it is essential to formulate better clinical diagnostic criteria, to permit correct management of the disease.