Gökhan Erkol

An association between mesial temporal lobe epilepsy with hippocampal sclerosis and human leukocyte antigens.

Summary:  Purpose: Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE‐HS) is one of the medically intractable epilepsies that may be remediable with surgery. Although the pathogenesis of HS still remains obscure, genetics may play a role as a predisposing factor, with the genetically controlled immune system as one of its aspects. Our aim in this study was to investigate whether there is any association between human leukocyte antigens (HLAs) that are related to chromosome 6 and this specific type of epilepsy.

Inflammatory hypothesis as a link between Alzheimer's disease and diabetes mellitus

The aim of the present study was to evaluate whether there was an inflammation‐mediated link between Alzheimers disease (AD) and type 2 diabetes mellitus (DM) status.

Fabry disease mimicking multiple sclerosis

Fabry disease is an X-linked recessive lysosomal storage disorder resulting from the deficiency of alpha-galactosidase. This disease causes endothelial vasculopathy and affects multiple organ systems. Hemizygous male patients represent the classical renal, cardiac and neurological symptoms of disease. Heterozygous female carriers are frequently asymptomatic, but cerebrovascular events in females are as frequent as in males. Even if rarely seen, neurological damage is an important cause of morbidity. Severe neurological signs that are due to multifocal small vessel occlusions may be present without major thrombosis. In this report, we present a 33-year-old female patient with recurrent neurological deficits secondary to multifocal small vessel involvements. The case had previously been misdiagnosed as multiple sclerosis. Cerebral MRI revealed hyperintense lesions located in bilateral thalamus, supratentorial areas, and left cerebellum. Laboratory and radiological investigations were performed for differential diagnosis, but the etiology could not be identified. During follow-up period, skin lesions and proteinuria were detected. The dermatological, neurological, laboratory, and radiological findings were all suggestive of Fabry disease and the diagnosis was confirmed by subsequent enzyme assays. Fabry disease should be considered in young patients with unexplained stroke-like episodes, especially in those who have infarction in the vertebrobasilar arterial system, angiokeratomas, and proteinuria.

A study on visual evoked responses in childhood epilepsy with occipital paroxysms

As some apparently idiopatic epilepsies may occasionally pose diagnostic difficulties in regard to their precise status of etiology, evoked potentials, particularly visual evoked potential (VEP), may contribute to the diagnosis of childhood epilepsy with occipital paroxysms (CEOP) as a subsidiary method of evaluation. This study includes 19 children (10 boys 52.6%; 9 girls 47.4%) ranging in age from 5 to 17 years (mean SD = 9.68 3.28) suffering from CEOP and a control group of 30 normal children, matched for chronological age and sex. Peak amplitudes and latencies of the P100 component for pattern-shift VEP (PVEP) and of major positivity for flash VEP (FVEP) are measured, respectively. The results from this study demonstrate that amplitude and latency values in patients with CEOP differs insignificantly when compared with controls. Although, non-significantly, mean values of amplitudes for both PVEP and FVEP were higher in the patients than in the normal children, whereas latencies in FVEP were somewhat longer. There may be some tendency for the amplitudes to increase and the latencies to be delayed in VEPs in patients with CEOP, when an overall interpretation of our and similar studies are considered. In certain cases of diagnostic difficulty, VEP values may provide further information for the clinician, regarding either a symptomatic or an idiopathic nature of the underlying disorder.

Spinal myoclonus following a peripheral nerve injury: a case report

Spinal myoclonus is a rare disorder characterized by myoclonic movements in muscles that originate from several segments of the spinal cord and usually associated with laminectomy, spinal cord injury, post-operative, lumbosacral radiculopathy, spinal extradural block, myelopathy due to demyelination, cervical spondylosis and many other diseases. On rare occasions, it can originate from the peripheral nerve lesions and be mistaken for peripheral myoclonus. Careful history taking and electrophysiological evaluation is important in differential diagnosis. The aim of this report is to evaluate the clinical and electrophysiological characteristics and treatment results of a case with spinal myoclonus following a peripheral nerve injury without any structural lesion.

Somatosensory eye blink reflex in peripheral facial palsy.

To investigate the association between somatosensory blink reflex (SBR) and peripheral facial palsy (PFP) severity and trigeminal blink reflex (BR) changes in cases with PFP and subsequent postparalytic facial syndrome development (PFS). One hundred and twenty subjects with peripheral facial palsy and post-facial syndrome and 44 age and gender matched healthy volunteers were enrolled to this study. Blink reflexes and somatosensory blink reflex were studied in all. The association between R1 and R2 responses of the BR and SBR positivity was investigated. SBR was elicited in 36.3% of normal subjects, in 18.3% of PFP and in 65.3% of PFS patients. In the paralytic side, the frequency of SBR positivity was significantly lower in PFP group compared to controls and SBR was most frequently observed in patients with PFS. Compared to PFP and control groups, SBR positivity on the non-paralytic side significantly revealed a higher rate in PFS patients. SBR positivity of patients in whom R1 or R2 were absent, was significantly lower than those subjects with prolonged or normal R1 or R2 responses. PFP and successive PFS are good models for the sensory motor gate mechanisms and/or excitability enhancement of brainstem neurons responsible for SBR.

DNA damage, DNA susceptibility to oxidation and glutathione redox status in patients with Alzheimer's disease treated with and without memantine

The aim of the current study was to compare oxidative DNA damage, DNA susceptibility to oxidation, and ratio of GSH/GSSG in patients with Alzheimers disease (AD) treated with acetylcholinesterase inhibitor (AChEI) and combined AChEI+memantine. The study included 67 patients with AD and 42 volunteers as control. DNA damage parameters (strand breaks, oxidized purines, H2O2-induced DNA damage) in lymphocyte DNA and GSH/GSSG ratio in erythrocytes were determined by the comet assay and spectrophotometric assay, respectively. DNA damage was found to be higher, GSH/GSSG ratio was found to be lower in the AD group than those in the control group. DNA strand breaks and H2O2-induced DNA damage were lower in the patients taking AChEI+memantine than those in the patients taking AChEI but no significant difference was determined between the groups for oxidized purines and GSH/GSSG ratio. In conclusion, increased systemic oxidative DNA damage and DNA susceptibility to oxidation may be resulted from diminished GSH/GSSG ratio in AD patients. Although DNA strand breaks and H2O2-induced DNA damage are lower in the AD patients treated with combined AChEI and memantine, this may not indicate protective effect of memantine against DNA oxidation due to similar levels of oxidized purines in the patients treated with AChEI and AChEI+memantine.

Comparing Oxidative Stress Markers and S100B, Aβ-40 Proteins as Independent Neurological Markers in Distinguishing the Relation of Alzheimer's Disease and Diabetes Mellitus

Objective: This study compares biomarkers of oxidative stress and neurological in patients of Alzheimers disease (AD) and Diabetes Mellitus (DM) to evaluate mechanisms of oxidative stress and inflammation in the pathogenesis of AD. Methods: Serum concentrations of 3-nitrotyrosine, Isoprostane, Protein Carbonyl, Malondialdehyde, Nitric Oxide, Asymmetrical Dimethyl-L-Arginine, Glutathione, and Homocysteine (as oxidative stress markers); adiponectin, fetuin A, insulin, soluble receptor of advanced glycation end products (sRAGE), IGF-I and Amylin (Insulin Resistance (IR) markers), serum amyloidβ (Aβ) and S100B protein (as neurological markers) were measured in controls, Type 2DM with or without AD, patients with AD with or without DM. Results: Even though levels of Aβ-40 was significantly higher in DM -OAD+ AD patients than DM-OAD patients (p<0.001) in AD-CEI and AD-CEI+DM groups no significant difference was observed; suggesting that higher Aβ-40 levels can be used in diagnosing the diabetes-related Alzhimer’s disease. S100B, on the other hand, was higher significantly in all AD groups (AD, AD-CEI, AD+DM-OAD) compared to Control and to solely DM group without AD (p<0.001 for control and DM respectively) which suggest that S100B can be used as a neurological biomarker independent from DM and can be used in monitoring the progression of AD. Also fetuin-A can be used in monitoring the progression and adiponectin for determining the onset of AD. Conclusions: By regulating the glycemia and IR, oxidative stress can be controlled and development of Alzheimers disease in diabetic patients can be slowed down.

Anti NMDA receptor encephalitis associated with thymic hyperplasia: a case report.

1. Tarik E, Lamiae R, Abdelouahed A, Tarik M, Hassan G, Anouar DM. Unusual case of congenital/infantile fibrosarcoma in a new born. Afr J Paediatr Surg 2013;10:185‐7. 2. Akyaaz C, Sari N, Vargel I, Gedikoglu G, Hali loglu M, Büyükpamukçu M. A newborn with infantile fibrosarcoma of foot: Treatment with chemotherapy and extremity–sparing surgery. J Perinatol 2010;30:63‐5. 3. Kodet R, Stejskal J, Pilat D, Kocourková M, Smelhaus V, Eckschlager T. Congenital‐infantile fibrosarcoma: A clinicopathogical study of five patients entered on the prague children’s tumour registry. Pathol Res Pract. 1996;192:845‐50. 4. Ohtsuka K, Saito K. Primary orbital fibrosarcoma developing in the scleral stroma. British Journal of Ophthalmology. 1996;80:932‐3. 5. Yanoff M, Scheie HG. Fibrosarcoma of orbit. Report of two patients. Cancer 1966;19:1711‐6. 6. Jakobiec FA, Tannenbaum M. The ultrastructure of orbital fibrosarcoma. Am J Ophthalmol 1974;77:899‐917. 7. Scott SM, Reiman HM, Pritchard DJ, IIstrup DM. Soft tissue fibrosarcoma. A clinicopathologic study of 132 cases. Cancer 1989;64:925‐31. 8. Tsang HH, Dolman PJ, Courtemanche DJ, Rassekh SR, Senger C, Lyons CJ. Prenatal presentation of fronto‐orbital congenital infantile fibrosarcoma: A clinicopathologic report. JAMA Ophthalmol 2013;131:965‐7. 9. Weiss SW. Congenital and Infantile fibrosarcoma. In: Enzinger FM, Weiss SW, editors. Soft Tissue Tumours. 4th ed. Missouri: Mosby Elsevier; 2001. p. 377‐9. 10. Rosai J, Ackerman LV. Surgical Pathology. Newyork: Mosby Elsevier; 2004. p. 2253. encephalitis is a rare disorder associated with antibodies against the NR1/NR2 heteromers of NMDAR and resulting in a characteristic neuropsychiatric syndrome.[1] Thymic hyperplasia is often detected in myasthenia gravis patients, but its association with autoimmune encephalitis is quite uncommon. To our knowledge, this is the first report of anti‐NMDA receptor encephalitis presenting with thymic hyperplasia. NMDAR expression in the thymic tissue suggests that thymus might be involved in autoimmune encephalitis pathogenesis.