Lack of Association of Childhood Partial Epilepsy with Brain Derived Neurotrophic Factor Gene

Brain-derived factor (BDNF) is a member of neurotrophin family and is localized and upregulated in areas implicated in epileptogenesis. Several lines of evidence make the BDNF gene a plausible candidate gene for predisposition to epilepsy. In this study, we tested that BDNF might be involved in the etiology of childhood PE. To assess whether BDNF gene C270T polimorphism could be implicated in vulnerability to PE, we conducted a case-control association analysis (112 partial epileptic and 100 controls) in Turkish children. Epileptic children were divided into two groups: 1—idiopathic (n=85) and 2—symptomathic epilepsy (n=27). There was no significant difference in genotypic distribution and allelic frequencies of the BDNF gene C270T polimorphism between the PE and control groups. However, the BDNF gene TT genotype was more frequently seen in the epileptic children (15 versus 11 patients, resp.). Interestingly, in the epilepsy group, both two children with TT genotype have posttraumatic epilepsy. The data indicate a possible association with the 270T genotype of the BDNF gene with a posttraumatic epilepsy. To draw any conclusion, further studies using larger sample sizes should be carried out in various ethnic populations in childhood epilepsies

Drying effects on the antioxidant properties of tomatoes and ginger

In this study, the effects of four different drying processes, sun drying (SD), oven drying (OD), vacuum oven drying (VOD) and freeze drying (FD) for tomatoes (Solanum lycopersicum) and ginger (Zingiber officinale) in terms of thiolic and phenolic contents have been studied. Thiol content, total phenolic content (TPC), ascorbic acid (AA) content, and cupric ion reducing antioxidant capacity (CUPRAC) were determined in fresh and dried samples. Glutathione (GSH) and cysteine (Cys) were determined as the thiol contents of tomatoes and ginger. Significant losses were observed in the contents of TPC, AA, GSH and Cys and CUPRAC values in all samples that were dried using the thermal method. There was a statistically significant difference in the losses of the TPC, AA, and thiol contents between the use of thermal drying and freeze drying (except Cys in tomatoes) methods. Freeze dried tomato and ginger samples have been found to have better antioxidant properties. (C) 2014 Elsevier Ltd. All rights reserved

Effects of APOE, ACE, PICALM, and CYP2D6 Gene Variants on Alzheimer's Disease

Background: Alzheimer's disease is a multifactorial, neurodegenerative disease which is considered the most common cause of dementia. It is divided into two subtypes based on the age of onset: Early- Onset Alzheimer's Disease (EOAD) and Late-Onset Alzheimer's Disease ( LOAD)

The cientificWorldJOURNAL Clinical Study Lack of Association of Childhood Partial Epilepsy with Brain Derived Neurotrophic Factor Gene

Brain-derived factor (BDNF) is a member of neurotrophin family and is localized and upregulated in areas implicated in epileptogenesis. Several lines of evidence make the BDNF gene a plausible candidate gene for predisposition to epilepsy. In this study, we tested that BDNF might be involved in the etiology of childhood PE. To assess whether BDNF gene C270T polimorphism could be implicated in vulnerability to PE, we conducted a case-control association analysis (112 partial epileptic and 100 controls) in Turkish children. Epileptic children were divided into two groups: 1-idiopathic (n = 85) and 2-symptomathic epilepsy (n = 27). There was no significant difference in genotypic distribution and allelic frequencies of the BDNF gene C270T polimorphism between the PE and control groups. However, the BDNF gene TT genotype was more frequently seen in the epileptic children (15 versus 11 patients, resp.). Interestingly, in the epilepsy group, both two children with TT genotype have posttraumatic epilepsy. The data indicate a possible association with the 270T genotype of the BDNF gene with a posttraumatic epilepsy. To draw any conclusion, further studies using larger sample sizes should be carried out in various ethnic populations in childhood epilepsies

The Effectiveness and Safety of Ultrasound Guided Renal Biopsies

Purpose: To evaluate the effectiveness and safety of US guided renal biopsies with 16G semi automated biopsy needles

Growth in familial Mediterranean fever: Effect of attack rate, genotype and colchicine treatment

We evaluated the effect Of attack frequency, homozygosity for the M694V mutation and colchicine treatment on growth in children with familial Mediterranean fever (FMF). Prepubertal patients with FMF (19 M, 14 F) were evaluated retrospectively for height SDS, weight SDS and body mass index (BMI) before and after 46.2 +/- 39.8 months of colchicine therapy. Pretreatment attack frequency and acute phase markers at diagnosis were also recorded. While acute phase markers were not correlated to anthropometric variables, attack rate was negatively, albeit insignificantly, correlated to height and weight SDS. Height SDS did not change, while BMI showed a slight but significant increase during colchicine therapy (16.2 +/- 2.6 to 17.3 +/- 3.1 kg/m(2), p = 0.035). Homozygosity for M694V did not affect time from the onset of symptoms to diagnosis, anthropometric variables and acute phase markers. In conclusion, pre-treatment attack rate and anthropometric development correlated negatively. Colchicine therapy improved BMI slightly, but significantly. Homozygosity for M694V had no effect on anthropometric development

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease