Search results for "VARIATION"
showing 10 items of 2124 documents
Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich’s ataxia patients
2017
AbstractMicroRNAs (miRNAs) are noncoding RNAs that contribute to gene expression modulation by regulating important cellular pathways. In this study, we used small RNA sequencing to identify a series of circulating miRNAs in blood samples taken from Friedreich’s ataxia patients. We were thus able to develop a miRNA biomarker signature to differentiate Friedreich’s ataxia (FRDA) patients from healthy people. Most research on FDRA has focused on understanding the role of frataxin in the mitochondria, and a whole molecular view of pathological pathways underlying FRDA therefore remains to be elucidated. We found seven differentially expressed miRNAs, and we propose that these miRNAs represent …
Genetic variations of the bitter taste receptor TAS2R38 are associated with obesity and impact on single immune traits
2015
Scope: Changes in genetic variations affecting the taste receptor, type 2, member 38 (TAS2R38) may identify the interacting mechanism leading to obesity and potential associations with proteins partaking in innate immunity, such as surfactant protein D (SPD) and mannan-binding lectin (MBL). Methods and results: We evaluated haplotypes of the bitter-taste receptor TAS2R38 in an identification sample of 210 women in different weight conditions, including anorexia nervosa and obesity. The association with SPD and MBL was tested in an independent sample picturing general population (n = 534). The relationship with obesity was validated in an extended final sample of 1319 participants. In the sa…
Intra and inter-raters reliability and agreement of stimulus electrodiagnostic tests with two different electrodes in sedated critically-ill patients
2019
Objective: The aim of the present study was to verify the intra- and inter-rater reliability and agreement of the stimulus electrodiagnostic test (SET) measurements obtained by pen and square elect...
Meaning in life is associated with the psychopathology of eating disorders: differences depending on the diagnosis
2019
Previous studies indicated that meaning in life was inversely associated with eating behaviors and a negative attitude toward food, body satisfaction, and borderline symptoms. However, research on the association between meaning in life and eating disorder psychopathology is scarce, and there are no studies on the association between meaning in life and the eating disorder psychopathology depending on the diagnosis. The aim of the present study is to verify whether meaning in life is differentially associated with a broad range of psychopathology symptoms commonly observed in people with ED, depending on the diagnosis, in a sample of 240 ED patients. We found that meaning in life was negati…
Predicting presenteeism via effort-reward imbalance and dispositional optimism: Is it the interaction that matters? Results from The Saxony Longitudi…
2019
BACKGROUND The importance of experienced work stress and individual traits as well as their interplay is analyzed with regard to dysfunctional coping behavior in case of sickness. OBJECTIVE The aim of this study was to examine the predictive capability of effort-reward imbalance (ERI) including overcommitment, meaning the intrinsic propensity in terms of excessive work-related expenditure (OC), in consideration of dispositional optimism/pessimism on presenteeism. METHODS A total of 353 men and women aged 38 from the 25th panel wave of The Saxony Longitudinal Study in 2011 were included in the analysis. Effort-reward imbalance (ERI) including overcommitment was assessed with the Effort-Rewar…
Are
2017
Objectives To investigate the association between IL18RAP and body mass index (BMI) and obesity and to verify the effect of a polymorphism in the microRNA136 (MIR136) IL18RAP binding region. Design We analysed samples from two Spanish cross-sectional studies, VALCAR (Spanish Mediterranean coast) and Hortega (Spanish centre). These studies aimed at analysing cardiovascular risk and development of cardiovascular disease in the general population. Both populations correspond to regions with different characteristics. Setting Five IL18RAP single nucleotide polymorphisms were selected using the SYSNPs web tool and analysed by oligonucleotide ligation assay (SNPlex). For the MIR136 functional stu…
Cephalometric measurements from 3D reconstructed images compared with conventional 2D images
2011
Abstract Objective: To assess whether the values of different measurements taken on three-dimensional (3D) reconstructions from cone-beam computed tomography (CBCT) are comparable with those taken on two-dimensional (2D) images from conventional lateral cephalometric radiographs (LCRs) and to examine if there are differences between the different types of CBCT software when taking those measurements. Material and Methods: Eight patients were selected who had both an LRC and a CBCT. The 3D reconstructions of each patient in the CBCT were evaluated using two different software packages, NemoCeph 3D and InVivo5. An observer took 10 angular and 3 linear measurements on each of the three types o…
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
2019
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing…
Emotional distress in family caregivers of adolescents with bronchial asthma: analysis of its predictors
2017
Adolescents with asthma face problems inherent to this stage in their development, to which the challenges of taking over control of their disease, complying with a daily treatment and regular medical followup are added. Any rejection generated by this may lead to treatment non-adherence and poor asthma control, which brings about problems in family dynamics, made worse by the stress or the emotional distress that this situation causes in caregivers.Identify adjustment profiles and predictors of risk for the well-being of caregivers of pediatric patients with bronchial asthma.Seventy-nine family caregivers of pediatric patients with bronchial asthma. Instruments were used to assess the emot…
Association of 5′ end neuregulin-1 ( NRG1 ) gene variation with subcortical medial frontal microstructure in humans
2007
Animal data suggest that the gene neuregulin-1 (NRG1) is involved in neuronal myelination. A haplotype (deCODE) in the 5' end region of the gene was described to double the risk for schizophrenia in an Icelandic population (Stefansson, H., Sigurdsson, E., Steinthorsdottir, V., Bjornsdottir, S., Sigmundsson, T., Ghosh, S., Brynjolfsson, J., Gunnarsdottir, S., Ivarsson, O., Chou, T.T., Hjaltason, O., Birgisdottir, B., Jonsson, H., Gudnadottir, V.G., Gudmundsdottir, E., Bjornsson, A., Ingvarsson, B., Ingason, A., Sigfusson, S., Hardardottir, H., Harvey, R.P., Lai, D., Zhou, M., Brunner, D., Mutel, V., Gonzalo, A., Lemke, G., Sainz, J., Johannesson, G., Andresson, T., Gudbjartsson, D., Manolesc…