Search results for "VARIATION"

Analysis of genetic variations of protein tyrosine kinase fyn and their association with alcohol dependence in two independent cohorts.

2003

Abstract Background Decreased sensitivity to and increased tolerance for the effects of alcohol is a phenotype, which was shown to be associated with an increased risk for alcoholism in humans and was observed in protein tyrosine kinase (PTK) fyn knockout mice. Methods We performed an association study of genetic variations of PTK fyn in 430 alcohol-dependent patients and 365 unrelated control subjects from two independent samples. Results In a combined analysis, we found an association of alcohol dependence with the single nucleotide polymorphism (SNP) T137346C in the 5′ untranslated region (UTR) of the gene. A relevant association could be excluded for the remaining two informative SNPs. …

Trends and Prevalence of Nocturia Among US Adults, 2005-2016

2019

Purpose: Increased nocturia episodes can be a clinical marker of poor health status. The present study aimed to evaluate patterns and temporal trends in nocturia and sociodemographic and lifestyle correlates in the US population. Methods: Participants, aged 20 years or older, were included in this repeated cross-sectional study. The National Health and Nutrition Examination Survey from 2005 to 2016 was used. Participants were asked “During the past 30 days, how many times per night did you most typically get up to urinate, from the time you went to bed at night until the time you got up in the morning?”. Individuals were categorized as either ≥ 1 nocturia episode or ≥ 2 nocturia episodes pe…

Primary motor area contribution to attentional reorienting after distraction

2008

The anatomical structures involved in distraction-related processing in the auditory domain were investigated using magnetoencephalography. Participants performed a duration-discrimination task on a sequence of 200 and 400 ms long tones. Infrequent (12%) task-irrelevant pitch changes resulted in slower discriminative responses and more errors. Event-related potentials to these changes show an increased N1, a mismatch negativity, a P3a, and a reorienting negativity. The event-related magnetic fields revealed focal activities in superior and medial temporal areas in the N1/mismatch negativity time range. No significant activity was found in the P3a interval. In the reorienting negativity inte…

Influence of sex and genetic variability on expression of X-linked genes in human monocytes

2011

Abstract In humans, the fraction of X-linked genes with higher expression in females has been estimated to be 5% from microarray studies, a proportion lower than the 25% of genes thought to escape X inactivation. We analyzed 715 X-linked transcripts in circulating monocytes from 1,467 subjects and found an excess of female-biased transcripts on the X compared to autosomes (9.4% vs 5.5%, p  −5 ). Among the genes not previously known to escape inactivation, the most significant one was EFHC2 whose 20% of variability was explained by sex. We also investigated cis expression quantitative trait loci (eQTLs) by analyzing 15,703 X-linked SNPs. The frequency and magnitude of X-linked cis eQTLs were…

Examining task-dependencies of different attentional processes as reflected in the P3a and reorienting negativity components of the human event-relat…

2005

Abstract Unexpected changes in task-irrelevant auditory stimuli are capable to distract processing of task-relevant visual information. This effect is accompanied by the elicitation of event-related potential (ERP) components associated with attentional orientation, i.e. P3a and reorienting negativity (RON). In the present study we varied the demands of a visual task in order to test whether the RON component – as an index of attentional reorientation after distraction – is confined to a semantic task requiring working memory. In two ERP experiments we applied an auditory-visual distraction paradigm in which subjects were instructed to discriminate visual stimuli preceded by a task-irreleva…

Intra- and inter-rater reliability of thoracic spine mobility and posture assessments in subjects with thoracic spine pain

2020

Abstract Background The thoracic spine (TS) has been neglected in the study of the spine despite its essential role in the stability and posture of the entire spinal complex. Therefore, there is an inevitable need to investigate the reproducibility of different thoracic spinal posture measures used in subjects with TS pain. Methods Thirty-two subjects (16 females and 16 males, mean age 39 years) were evaluated by two physiotherapists on the same day to gauge inter-rater reliability and on two consecutive days to gauge intra-rater reliability. TS posture was assessed by observation, and thoracic spine mobility was measured by manual assessment of segmental flexion and extension mobility in a…

Anxiety, Stress, and Contingent Negative Variation Reconsidered

1984

Characterization of hypoechoic focal hepatic lesions in patients with fatty liver: diagnostic performance and confidence of contrast-enhanced ultraso…

2007

The objective of this study was to assess the diagnostic performance of contrast-enhanced ultrasound (CEUS) to characterize hypoechoic focal hepatic lesions (HFHL) in fatty liver (FL). A study group of 105 patients with FL and 105 HFHLs (52 malignant and 53 benign) underwent CEUS after SonoVue administration. Two blinded readers independently reviewed baseline ultrasound (US) and CEUS scans and classified each lesion as malignant or benign on a five-point scale of confidence, and recorded whether further imaging work-up was needed. Sensitivity, specificity, areas under the receiver operating characteristic (ROC) curve (A (z)), and interobserver agreement were calculated. We observed that th…

Gender specific associations of the Trp64Arg mutation in the beta3-adrenergic receptor gene with obesity-related phenotypes in a Mediterranean popula…

2001

Abstract. Corella D, Guillen M, Portoles O, Sorli JV, Alonso V, Folch J, Saiz C (School of Medicine, University of Valencia, Valencia, Spain). Gender specific associations of the Trp64Arg mutation in the β3-adrenergic receptor gene with obesity-related phenotypes in a Mediterranean population: interaction with a common lipoprotein lipase gene variation. J Intern Med 2001; 250: 348–360. Objective. To investigate the association between the Trp64Arg β3-adrenergic receptor (ADRB3) mutation and obesity-related phenotypes in a Mediterranean Spanish population considering the effect of other genetic and environmental factors. Design and subject. Cross-sectional study in 1063 (476 men and 587 wome…

Differences between orthopaedic evaluation and radiological reports of conventional radiographs in patients with minor trauma admitted to the emergen…

2017

Abstract Introduction During night and on weekends, in our emergency department there is no radiologist on duty or on call: thus, X-ray examinations (XR) are evaluated by the orthopaedic surgeon on duty and reported the following morning/monday by radiologists. The aim of our study was to examine the discrepancy rate between orthopaedists and radiologists in the interpretation of imaging examinations performed on patients in our tertiary level orthopaedic institution and the consequences of delayed diagnosis in terms of patient management and therapeutic strategy. Materials and methods We retrospectively reviewed all cases of discrepancy between orthopaedists and radiologists, which were ca…