Search results for " test"
showing 10 items of 7948 documents
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease
2015
Background and purpose A three-generation family affected by axonal Charcot−Marie−Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. Methods The clinical, nerve conduction studies and muscle magnetic resonance images of the patients were reviewed. A whole exome sequencing was performed and the changes were investigated by genetic studies, in silico analysis and luciferase reporter assays. Results A novel c.1226G>A change (p.R409Q) in the EGR2 gene was identified. Patients presented with a typical, late-onset axonal CMT phenotype with variable severity that was confirmed in the ancillary tests. The in silico studies sho…
'Prefrontal' cognitive performance of healthy subjects positively correlates with cerebral FDOPA influx: an exploratory [18F]-fluoro-L-DOPA-PET inves…
2006
Dopamine neurotransmission influences those cognitive processes, which are generally regarded as prefrontal cortical functions. In previous positron‐emission‐tomography (PET) studies, net blood‐brain clearance of [(18)F]‐fluoro‐l‐DOPA (FDOPA) correlated with impaired cognitive performance in patients with Parkinson's disease or schizophrenia. We hypothesized that FDOPA influx also correlates with performance of cognitive tasks associated with prefrontal functioning in healthy volunteers. The net blood‐brain clearance of FDOPA (K [Formula: see text]) was mapped in a group of 11 healthy volunteers and calculated in striatal volumes‐of‐interest. The Wisconsin‐Card‐Sorting‐Test (WCST), Stroop‐T…
Methylphenidate, modafinil, and caffeine for cognitive enhancement in chess: A double-blind, randomised controlled trial.
2017
Stimulants and caffeine have been proposed for cognitive enhancement by healthy subjects. This study investigated whether performance in chess - a competitive mind game requiring highly complex cognitive skills - can be enhanced by methylphenidate, modafinil or caffeine. In a phase IV, randomized, double-blind, placebo-controlled trial, 39 male chess players received 2×200mg modafinil, 2×20mg methylphenidate, and 2×200mg caffeine or placebo in a 4×4 crossover design. They played twenty 15-minute games during two sessions against a chess program (Fritz 12; adapted to players' strength) and completed several neuropsychological tests. Marked substance effects were observed since all three subs…
Cognitive and social cognitive functioning in spinocerebellar ataxia : a preliminary characterization
2006
INTRODUCTION : The spinocerebellar ataxias (SCAs), are rare neurodegenerative disorders caused by distinct genetic mutations. Clinically, the SCAs are characterised by progressive ataxia and a variety of other features, including cognitive dysfunction. The latter is consistent with a growing body of evidence supporting a cognitive as well as motor role for the cerebellum. Recent suggestions of cerebellar involvement in social cognition have not been extensively explored in these conditions. The availability of definitive molecular diagnosis allows genetically defined subgroups of SCA patients, with distinct patterns of cerebellar and extracerebellar involvement, to be tested comparatively u…
The importance of impulsivity and attention switching deficits in perpetrators convicted for intimate partner violence.
2018
It has been stated that Attention deficit hyperactivity disorder (ADHD) increases the likelihood of risky behavior such as intimate partner violence (IPV), but the cognitive mechanisms that facilitate or underlie these types of behavior remain unexplained. In this regard, several authors have established that impulsivity and inattentive symptoms might affect basic processes such as emotional decoding and set-shifting abilities, which are important processes for emotional and behavioral regulation. Hence, these symptoms entail a reduction in sensitivity to key contextual stimuli. Accordingly, the main aim of this study was to examine the involvement of impulsivity (assessed by self-reports) …
A preliminary characterisation of cognition and social cognition in spinocerebellar ataxia types 2, 1, and 7.
2010
Over the last decade, studies have implicated the cerebellum not only in motor functioning, but also in cognition and social cognition. Although some aspects of cognition have been explored in the five most common forms of Spinocerebellar Ataxia (SCA), social cognition in these patients has rarely been examined. The present study provides a preliminary characterisation of the severity of cognitive and social cognitive impairments in patients with SCA2, SCA1 and SCA7 using an identical battery to the one previously used in SCA3 and SCA6 patients for comparison. The cognitive profiles of SCA1 and SCA7 patients were comparable to that of SCA6 patients; SCA1 patients had relatively intact profi…
Neuronal and Behavioral Correlates of Health Anxiety: Results of an Illness-Related Emotional Stroop Task
2011
<b><i>Background:</i></b> Health anxiety (HA) is defined as the objectively unfounded fear or conviction of suffering from a severe illness. Predominant attention allocation to illness-related information is regarded as a central process in the development and maintenance of HA, yet little is known about the neuronal correlates of this attentional bias. <b><i>Methods:</i></b> An emotional Stroop task with body symptom, illness, and neutral words was employed to elicit emotional interference in healthy participants with high (HA+, n = 12) and low (HA–, n = 12) HA during functional magnetic resonance imaging. <b><i>Results:</i>…
Endemic hepatitis C virus infection in a Sicilian town: Further evidence for iatrogenic transmission
2002
The prevalence of and risk factors for HCV and HBV infections in the general population and the predictive value of ALT screening in identifying anti-HCV positive subjects have been evaluated in a small Sicilian town. A random 1:4 sampling from the census of the general population was performed. Anti-HCV, HCV-RNA, HCV genotype, HBsAg, and anti-HBc were tested. The linkage between HCV infection and potential risk factors was evaluated by multiple logistic regression analysis. Among 721 subjects studied, 75 (10.4%) were anti-HCV positive. The HCV infection rate increased from 0.4% in subjects 10-29 years of age to 34% in those > 60 years of age. Among the 75 anti-HCV positive subjects, 66.7% …
Skin conductance rises in preparation and recovery to psychosocial stress and its relationship with impulsivity and testosterone in intimate partner …
2013
Intimate partner violence (IPV) perpetrators were categorized into 2 groups using Gottman et al.'s (1995) typology depending on their skin conductance (SC) reactivity to stress. Overall, type I perpetrators tend to show autonomic underarousal, whereas type II perpetrators present a preparatory hyperreactivity to confront stress. Moreover, impulsivity traits and testosterone (T) levels may modulate SC responses to increase the risk of proneness to violence. In this study, SC response to stress was assessed by comparing IPV perpetrators with non-violent controls while performing a modified version of the Trier Social Stress Test (TSST). Subjects with a history of IPV demonstrated higher non-s…
A new method to calculate external mechanical work using force-platform data in ecological situations in humans: Application to Parkinson's disease
2016
Abstract Background and aim To accurately quantify the cost of physical activity and to evaluate the different components of energy expenditure in humans, it is necessary to evaluate external mechanical work ( W EXT ). Large platform systems surpass other currently used techniques. Here, we describe a calculation method for force-platforms to calculate long-term W EXT . Methods Each force-platform (2.46 × 1.60 m and 3.80 × 2.48 m) rests on 4 piezoelectric sensors. During long periods of recording, a drift in the speed of displacement of the center of mass (necessary to calculate W EXT ) is generated. To suppress this drift, wavelet decomposition is used to low-pass filter the source signal.…