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

Effects of GLP-1 Receptor Polymorphisms on Adolescent Obesity

Obesity is becoming a concerning disease in developing countries. Like other multifactorial diseases, genetics plays a substantial role in the development of this disease. We tried to investigate genetic variations (mutation/polymorphism) of GLP-1R gene in children diagnosed with obesity and to identify their possible connections with obesity and other conditions. Genomic DNA was extracted from 162 overweight/obese patients and 100 controls. Later, full exon sequencing and association studies were carried out. Three polymorphisms and one mutation were detected in the fourth and fifth exons of the GLP-1R gene. Some variations were detected in three cases from which 1/3 had non-alcoholic fatty liver disease (NAFLD) but none showed insulin resistance (IR). There were also statistically meaningful results for ‘Odds Ratio’ among different genotypes and allele frequencies in groups with NAFLD and/or IR. In addition, there was an increase in risk for NAFLD and a decrease in risk for IR. In the homozygous group, also the prospect of IR was double declined. Patients with the A allele of this polymorphism showed a drop in risk for IR as well. GLP-1R polymorphisms could influence obesity and diabetes and thus the functional analysis of the GLP-1R polymorphisms is benevolent

Localization of the Werner Protein Together with H2AX in γ-Irradiation-Induced Neoplastic Transformed Human Mesenchymal Stem Cells

The H2A histone family, member X (H2AX), and Werner (WRN) are important proteins for genome and telomere maintenance. WRN has a major role in genome stability, particularly during DNA replication, transcription, recombination, and repair of DNA double-stranded breaks (DSBs) via base excision repair, homologous recombination, or nonhomologous end joining. H2AX plays a part in the rapid, sensitive, cellular response to the ionizing radiation or DNA-damaging chemotherapeutic agents that cause DSBs. This occurs when radiation-induced DSBs trigger the activation of H2AX and begin the damage-repair process. In this study, we investigate the role and localization of WRN together with DNA damage marker H2AX at the radiation-induced damaged sides of both the telomere-immortalized human mesenchymal stem cells (hMSCs) and hMSC-telomere 1 (hMSC-telo1) and in control primary hMSCs. Phosphorylated H2AX and WRN immune staining enabled evaluation of overall genomic integrity and damage/repair. We used peptide nucleic acid-fluorescent in situ hybridization to visualize telomeric damage as a short-term effect. A high-level WRN signal was observed in both primary hMSCs and telomerase-immortalized hMSCs after the cells had been subjected to infrared radiation. Afterward, the irradiation level of the WRN signals decreased considerably, especially in later passages, and WRN was nondetectable in the latest passages of the hMSC Telo1 cells. Contrary to this finding, we found that levels of H2AX phosphorylation in hMSC-telo1 cells increased with time, especially at telomere sides, suggesting that cells with long telomeres and high telomerase activity have the advantage of maintaining genomic integrity. Evaluation of localization of WRN signals demonstrated that WRN does not leave the nucleolus after irradiation. We did not detect the WRN signal at the telomere sides, but we could detect H2AX at the telomeric sides. Thus, our overall data suggest that the WRN protein is not involved in irradiation-induced DNA damage/repair, even at telomeric sides in hMSC and hMSC-telo1

The prevalance of 22q11.2 deletion in children with congenital heart disease and dismorphic features

6th European Cytogenetics Conference -- JUL 07-10, 2007 -- Istanbul, TURKEYWOS: 00024885980016

Comparison of Aneuploidy Frequency to Sperm FISH and Sperm Apoptosis Results in Embryos That Lost the Vitality

WOS: 000296212300021Objective: Rate of chromosomal abnormality which is seen in embryos is higher than those in spontaneous aborts. This rate varies from 23 to 83 percent. In this study; in embryos with development arrest, we aimed To investigate the number abnormalities in 13(rd), 16(th), 18(th), 21(st) and 22(nd) chromosomes, To show the correlation between the chromosomal abnormality rates in embryos with developmental arrest and rate of live embryos in same cycle. To investigate the correlation between the apoptosis and the chromosomal number abnormalities in embryos with developmental arrest and sperm cells that are obtained in same cycle. Material and Methods: In twenty embryos with developmental arrest, the number abnormalities of 13(rd), 16(th), 18(th), 21(st) and 22(nd) chromosomes were analyzed with FISH method. The chromosomal numbers of X, Y and 18(th) chromosomes were analyzed with same methods in sperm cells that are obtained from the fathers of embryos at the same cycle. Apoptosis status in sperm cells was assessed with TUNNEL test. Results: The chromosomal number abnormality ratewas 80% in embryos with developmental arrest. No significant correlation was detected between the abnormality rate in embryos and living embryo rate as well as total abnormality rate in sperm cells. No correlation was detected between sperm apoptosis and chromosomal abnormality rates in embryos. However a significant correlation was detected between chromosomal abnormality rate and spermiogram results. Conclusion: In embryos with developmental arrest, chromosomal abnormality rates were higher in 13(rd), 16(th), 18(th), 21(st) and 22(nd) chromosomes. Chromosomal abnormality and apoptosis frequency in sperms were not significantly correlated with chromosomal abnormalities in embryos however a significant correlation was found between spermiogram results of fathers and chromosomal abnormalities in embryos with developmental arrest

Interview with Parents of Children with Down Syndrome: Their Perceptions and Feelings

WOS: 000291250000006PubMed ID: 21165714To obtain information about the life of the families having children with Down Syndrome through an interview with parents. The authors focused on the effect of having a child with Down syndrome on the parents, factors causing problems on the family and the characteristics of a family with children having Down syndrome. In the present study, the authors evaluated the social, economic and individual problems of the parents (n = 100) who had a child with DS by an interview consisting of 16 questions about the families' characteristics, their relations with each other and other people and their attitudes towards the child with DS . The control group consisted of 100 subjects having healthy children who were recruited from the outpatient clinics of the same hospital. The authors found that children with DS mostly spend their time with their mothers, and mothers reported higher levels of stress than fathers. The rate of mothers who reported higher possibility to divorce in the future is much higher than fathers (p < 0.05). High rates of marital and parental problems, particularly perceived by the mothers, observed in this study are the main issues which should be considered during the assessment of those children in order to cope with the problems and improve both patients' and families' life quality

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

Assessment of sleep problems in children with familial Mediterranean fever

AimsThis study aimed to investigate sleep patterns, sleep disturbances and possible factors that are associated with sleep disturbances among children with familial Mediterranean fever (FMF)