Proteasome modulator 9 (PSMD9) gene rs14259 polymorphism in Alzheimer's disease.

IM: Alzheimer's disease (AD) is a progressive and fatal neurodegenerative disorder resulting in degeneration of certain neuronal structures in certain brain regions and severe neuronal loss, characterized by a pathological accumulation of senile amyloid plaques (SP) and neurofibrillary tangles (NFT) within the brain . Alzheimer's disease has been associated with Type 2 diabetes mellitus (T2DM) in recent years. We designed our study on the relationship between AD and T2DM. Genome screening studies in different populations had linked the chromosome 12q24 region to type 2 diabetes. Within this region, there is the PSMD9 gene encoding a transcriptional coactivator of insulin production. METHOD: The effect of PSMD9 gene E197G (rs14259) polymorphism on AD was investigated in29 Alzheimer's patients and 25 healthy controls, who were included in the study. RESULTS: In our study, it was determined that the variant of PSMD9 gene E197G (rs14259) did not cause genetic risk factor for Alzheimer's disease in Turkish population. CONCLUSIONS: Our study was the first to investigate the relationship between PSMD9 gene and Alzheimer's disease. A larger sample group is needed to investigate the contribution of the PSMD9 gene to Alzheimer's disease in further studies (Tab. 5, Ref. 8).

Serum soluble tumour necrosis factor related apoptosis-inducing ligand level and peripheral eosinophil count in patients with nasal polyposis.

BACKGROUND: Nasal polyposis is one of the most common inflammatory pathologies of the nasal cavity. Eosinophilic inflammation plays an important role in the pathogenesis. This study aimed to investigate soluble tumour necrosis factor related apoptosis-inducing ligand levels and eosinophil count in nasal polyposis patients. METHODS: The study was performed on 24 adult nasal polyposis patients and 24 age-matched healthy individuals. The patients had not received any medical or surgical treatment. Pre-operative computed tomography scans were assessed using the Lund-MacKay grading system, and soluble tumour necrosis factor related apoptosis-inducing ligand levels were measured with a sandwich enzyme-linked immunosorbent assay. RESULTS: Compared with controls, eosinophil levels in nasal polyposis patients were increased (p = 0.024), but there was no significant difference in soluble tumour necrosis factor related apoptosis-inducing ligand levels (p = 0.529). The Lund-MacKay mean grading was 12.43 ± 6.9. There was no correlation between soluble tumour necrosis factor related apoptosis-inducing ligand level and Lund-MacKay grading and eosinophil count. CONCLUSION: There was no relationship between soluble tumour necrosis factor related apoptosis-inducing ligand level and blood eosinophil or clinical markers; however, soluble tumour necrosis factor related apoptosis-inducing ligand level remains of interest for future studies.

The role of VEGF and other parameters in tracking the clinical course in metronomic chemotherapy.

PURPOSE: The purpose of this study was to investigate the effect of metronomic chemotherapy on serum vascular endothelial growth factor (VEGF) levels in cancer patients. METHODS: The study included 11 metastatic cancer patients who received daily 50 mg cyclophosphamide and biweekly 5 mg methotrexate per os as metronomic chemotherapy. Bevacizumab together with FOLFIRI chemotherapy was administered as anti-angiogenic treatment in another group of 16 metastatic colorectal carcinoma patients. Furthermore, VEGF levels of 10 healthy individuals and 5 cord blood samples served for comparisons. VEGF levels of patients before therapy and 3 months after treatment were analyzed and compared. RESULTS: Serum VEGF levels prior to metronomic chemotherapy were higher compared with the healthy controls (p=0.0001). Similarly, serum VEGF levels prior to the bevacizumab-based chemoimmunotherapy were significantly higher compared with the healthy controls (p=0.005). In patients on metronomic chemotherapy VEGF levels showed non significant decrease (p=0.075). On the contary, VEGF levels decreased significantly (p=0.002) with bevacizumab treatment. CONCLUSION: Serum VEGF levels may be used for assessing of the efficacy of anti-angiogenic therapies.

Circulating soluble tumor necrosis factor related apoptosis inducing-ligand (TRAIL) is decreased in type-2 newly diagnosed, non-drug using diabetic patients.

We examined the association between serum sTRAIL measured by ELISA and HbA1C levels, pre/post-prandial blood glucose levels and body mass index in 22 newly diagnosed type-2 diabetic patients. A significant difference in sTRAIL levels was found between study group and controls.

Reflex occipital lobe epilepsy.

Photosensitivity is a typical feature of photosensitive epilepsy which is usually considered a form of idiopathic generalized epilepsy. Partial seizures featuring visual symptoms are rarely reported in photosensitive epilepsy. In this study, we describe 13 neurologically normal patients in whom daytime seizures were always induced by television and began with elementary visual hallucinations, followed frequently by vomiting, headache and then secondary generalization. Three patients additionally reported nocturnal seizures, which have not been described in previous studies. Two of these latter patients had generalized tonic-clonic seizures, the other always awoke from sleep and could describe typical visual hallucinations at the beginning of the seizure. EEG features included normal background activity and occipital spikes or spike-waves in all but two patients. Eight patients also showed generalized epileptiform activity during intermittent photic stimulation. Seizure frequency was low in all. Apart from two patients, who refused treatment, all patients received antiepileptic drugs. Only one patient continued to have rare seizures after treatment; in the others seizure control was achieved with monotherapy. We conclude that reflex occipital lobe epilepsy is an idiopathic form of the benign partial epilepsies, which may overlap with one another.

Primary reading epilepsy.

This is a report of a 23-year-old-man with primary reading epilepsy. He had had three generalized tonic-clonic seizures, each time beginning with visual illusions and occurring while reading a political science text in English with complicated words. He also described tightness and stiffness in the jaw and musculature of mastication for the past 2 years, which only lasted for a few seconds and only appeared while reading political science books in English. He noted that this sensation was associated with misreading of foreign and difficult words and disappeared when he stopped reading. This case report supports the view that difficult words and misreading are provocative factors evoking seizures in reading epilepsy.

Childhood occipital epilepsy: seizure manifestations and electroencephalographic features.

Childhood epilepsy with occipital paroxysms (CEOP) is an idiopathic localization-related epilepsy. A typical seizure in CEOP begins with visual symptoms, followed by hemiclonic seizures, complex partial seizures or generalized tonic-clonic seizures. Benign nocturnal childhood occipital epilepsy (BNCOE), characterized by nocturnal seizures with tonic deviation of the eyes followed by vomiting, has the same electroencephalographic features as CEOP. In this study, we report the seizure symptoms and electroencephalographic features of 21 cases with CEOP or BNCOE. Out of these patients, nine had BNCOE, six had CEOP, four had CEOP and BNCOE and the remaining two belonged to the incomplete syndrome because of no paroxysmal discharges in EEG. When the patients with BNCOE awoke from sleep, they had tonic deviation of the eyes and could describe visual symptoms. Patients with CEOP had seizures beginning with visual symptoms followed by loss of consciousness but no generalized convulsions. In three cases, in addition to the occipital spikes, independent centro-temporal spikes were recorded and in another three cases generalized spike-wave discharges were recorded. Such a combination suggests the idiopathic nature of these epilepsies. We concluded that in the diagnosis of CEOP and BNCOE, the seizure symptomatology is important even if the EEG can be considered normal.

Effect of antiepileptic drugs on erythrocyte osmotic fragility and lipid peroxidation.

Epileptic children receiving antiepileptics were studied to investigate the effect of carbamazepine and phenobarbital therapy on erythrocyte osmotic fragility and lipid peroxidation. Significant differences between the two groups were observed in erythrocyte osmotic fragility. In addition, there was a significant increase in erythrocyte malondialdehyde release in the epileptic group compared to controls. It is suggested that the use of antioxidants in addition to antiepileptic drugs may be beneficial.