Synaptosomal-associated protein 25 (Snap-25) gene Polymorphism frequency in fibromyalgia syndrome and relationship with clinical symptoms

Background: SNAP-25 protein is contributory to plasma membrane and synaptic vesicle fusions that are critical points in neurotransmission. SNAP-25 gene is associated with behavioral symptoms, personality and psychological disorders. In addition, SNAP-25 protein can be related to different neurotransmitter functions due to its association with vesicle membrane transition and fusion. This is important because neurologic, cognitive, and psychologic disorders in fibromyalgia syndrome (FMS) can be related to this function. This relationship may be enlightening for etiopathogenesis of FMS and treatment approaches. We aimed to study a SNAP-25 gene polymorphism, which is related to many psychiatric diseases, and FMS association in this prospective study. Methods. We included 71 patients who were diagnosed according to new criteria and 57 matched healthy women in this study. Both groups were evaluated regarding age, height, weight, BMI, education level, marital and occupational status. A new diagnosis of FMS was made from criteria scoring, SF-36, Beck depression scale, and VAS that were applied to the patient group. SNAP-25 gene polymorphism and disease activity score correlations were compared. Results: Mean age was 38±5,196 and 38.12±4.939 in patient and control groups, respectively (p=0.542). No significant difference was found between groups regarding age, height, weight, BMI, education level, marital or occupational status (p > 0.05). Ddel T/C genotype was significantly higher in the patient group (p = 0.009). MnlI gene polymorphism did not show a correlation with any score whereas a significant correlation was found between Ddel T/C genotype and Beck depression scale and VAS score (p ; 0.05). Conclusion: FMS etiopathogenesis is not clearly known. Numerous neurologic, cognitive and psychological disorders were found during studies looking at cause. Our study showed increased SNAP-25 Ddel T/C genotype in FMS patients compared to the control group, which is related to behavioral symptoms, personality and psychological disorders in FMS patients. © 2014Balkarli et al.; licensee BioMed Central Ltd

Visuo-tactile integration and body ownership during self-generated action

Although there is increasing knowledge about how visual and tactile cues from the hands are integrated, little is known about how self-generated hand movements affect such multisensory integration. Visuo-tactile integration often occurs under highly dynamic conditions requiring sensorimotor updating. Here, we quantified visuo-tactile integration by measuring cross-modal congruency effects (CCEs) in different bimanual hand movement conditions with the use of a robotic platform. We found that classical CCEs also occurred during bimanual self-generated hand movements, and that such movements lowered the magnitude of visuo-tactile CCEs as compared to static conditions. Visuo-tactile integration, body ownership and the sense of agency were decreased by adding a temporal visuo-motor delay between hand movements and visual feedback. These data show that visual stimuli interfere less with the perception of tactile stimuli during movement than during static conditions, especially when decoupled from predictive motor information. The results suggest that current models of visuo-tactile integration need to be extended to account for multisensory integration in dynamic conditions

Social support and Quality of Life: a cross-sectional study on survivors eight months after the 2008 Wenchuan earthquake

<p>Abstract</p> <p>Background</p> <p>The 2008 Wenchuan earthquake resulted in extensive loss of life and physical and psychological injuries for survivors. This research examines the relationship between social support and health-related quality of life for the earthquake survivors.</p> <p>Methods</p> <p>A multistage cluster sampling strategy was employed to select participants from 11 shelters in nine counties exposed to different degrees of earthquake damage, for a questionnaire survey. The participants were asked to complete the Short Form 36 and the Social Support Rating Scale eight months after the earthquake struck. A total of 1617 participants returned the questionnaires. The quality of life of the survivors (in the four weeks preceding the survey) was compared with that of the general population in the region. Multivariate logistic regression analysis and canonical correlation analysis were performed to determine the association between social support and quality of life.</p> <p>Results</p> <p>The earthquake survivors reported poorer quality of life than the general population, with an average of 4.8% to 19.62% reduction in scores of the SF-36 (p < 0.001). The multivariate logistic regression analysis showed that those with stronger social support were more likely to have better quality of life. The canonical correlation analysis found that there was a discrepancy between actual social support received and perceived social support available, and the magnitude of this discrepancy was inversely related to perceived general health (rs = 0.467), and positively related to mental health (rs = 0.395).</p> <p>Conclusion</p> <p>Social support is associated with quality of life in the survivors of the earthquake. More attention needs to be paid to increasing social support for those with poorer mental health.</p

Different tool training induces specific effects on body metric representation

Morphology and functional aspects of the tool have been proposed to be critical factors modulating tool use-induced plasticity. However, how these aspects contribute to changing body representation has been underinvestigated. In the arm bisection task, participants have to estimate the length of their own arm by indicating its midpoint, a paradigm used to investigate the representation of the metric properties of the body. We employed this paradigm to investigate the impact of different actions onto tool embodiment. Our findings suggest that a training requiring actions mostly with proximal (shoulder) or distal (wrist) parts induces a different shift in the perceived arm midpoint. This effect is independent of, but enhanced by, the use of the tool during the training and in part influenced by specific demands of the task. These results suggest that specific motor patterns required by the training can induce different changes of body representation, calling for rethinking the concept of tool embodiment, which would be characterized not simply by the morphology of the tools, but also by the actions required for their specific use

The Impact of the D727e Polymorphism has no Significant Role in Multi Nodular Goiter

Interactions between individual genetic and environ- mental factors determine the onset of the multi nodular goiter (MNG). The thyroid-stimulating hormone receptor (TSHR) gene is a convincing candidate gene in the pathogenesis of certain thyroid diseases including MNG. We investigated the codon 727 polymorphism (p.Asp727Glu, p.D727E) of the human TSHR gene using the polymerase chain reaction-restriction fragment length polymorphim (PCR-RFLP) methods in 31 Turkish patients with MNG and in 30 control subjects, aiming to evaluate the relationship between this polymorphism and MNG. After genomic DNA isolation, PCR amplification was performed using a pair of primers in exon 10 of the TSHR gene that contains the p.D727E polymorphism and digested by the NlaIII (Hin1II) restriction enzyme. We found the CC and CG genotype incidence for the patient group to be 0.71 and 0.29, respectively, and for the control group to be 0.8 and 0.2, respectively. No statistically significant difference was found between the genotype and allele distribution of both groups (p = 0.417 and p = 0.449, respectively). However, the polymorphism is significantly correlated with the low serum level of the TSH (p = 0.047). These results suggest that the p.D727E polymorphism of the TSHR gene may not contribute to the pathogenesis of nontoxic MNG diseases

The Impact of the D727e Polymorphism has no Significant Role in Multi Nodular Goiter

Interactions between individual genetic and environ-mental factors determine the onset of the multi nodular goiter (MNG). The thyroid-stimulating hormone receptor (TSHR) gene is a convincing candidate gene in the pathogenesis of certain thyroid diseases including MNG. We investigated the codon 727 polymorphism (p.Asp727Glu, p.D727E) of the human TSHR gene using the polymerase chain reaction-restriction fragment length polymorphim (PCR-RFLP) methods in 31 Turkish patients with MNG and in 30 control subjects, aiming to evaluate the relationship between this polymorphism and MNG. After genomic DNA isolation, PCR amplification was performed using a pair of primers in exon 10 of the TSHR gene that contains the p.D727E polymorphism and digested by theNlaIII (Hin1II) restriction enzyme. We found the CC and CG genotype incidence for the patient group to be 0.71 and 0.29, respectively, and for the control group to be 0.8 and 0.2, respectively. No statistically significant difference was found between the genotype and allele distribution of both groups (p = 0.417 and p = 0.449, respectively). However, the polymorphism is significantly correlated with the low serum level of the TSH (p = 0.047). These results suggest that the p.D727E polymorphism of the TSHR gene may not contribute to the pathogenesis of nontoxic MNG diseases