Search results for "Sn"
showing 10 items of 3585 documents
Molecular characterization of congenital myasthenic syndromes in Spain.
2017
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders, all of which impair neuromuscular transmission. Epidemiological data and frequencies of gene mutations are scarce in the literature. Here we describe the molecular genetic and clinical findings of sixty-four genetically confirmed CMS patients from Spain. Thirty-six mutations in the CHRNE, RAPSN, COLQ, GFPT1, DOK7, CHRNG, GMPPB, CHAT, CHRNA1, and CHRNB1 genes were identified in our patients, with five of them not reported so far.. These data provide an overview on the relative frequencies of the different CMS subtypes in a large Spanish population. CHRNE mutations are the most common cause of CMS in Spain, …
Direction-dependent activation of the insular cortex during vertical and horizontal hand movements
2016
International audience; The planning of any motor action requires a complex multisensory processing by the brain. Gravity - immutable on Earth - has been shown to be a key input to these mechanisms. Seminal fMRI studies performed during visual perception of falling objects and self-motion demonstrated that humans represent the action of gravity in parts of the cortical vestibular system; in particular, the insular cortex and the cerebellum. However, little is known as to whether a specific neural network is engaged when processing non-visual signals relevant to gravity. We asked participants to perform vertical and horizontal hand movements without visual control, while lying in a 3T-MRI sc…
Tracking of fruit, vegetables and unhealthy snacks consumption from childhood to adulthood (15 year period): does exposure to a free school fruit pro…
2019
Background The rationale for promoting increased consumption of fruit and vegetables (FV) at an early age is based on results from previous tracking-studies, indicating that dietary habits learned in childhood sustain into adulthood. Previous tracking studies have several limitations (e.g. low study sample, few repeated measurements and/or short a follow-up period). In addition, to our knowledge, no study has shown that a dietary intervention initiated in childhood affects tracking of dietary behaviour. The main objectives in this study were therefore to assess tracking of FV and unhealthy snacks in a large sample with multiple follow-up surveys over 15-years, and whether exposure to free s…
Biomechanics of simulated versus natural cross-country sit skiing
2017
The purpose of this study was to investigate the biomechanics of cross-country sit-skiing in simulated and natural skiing. Thirteen international level athletes participated in a ski ergometer test (simulated conditions) and a test on snow in a ski-tunnel (natural conditions) using their personal sit-ski. Tests in both conditions were performed at individual maximal speed. When comparing the two conditions the main results were: (1) maximal speed in simulated conditions was lower (p < 0.05) but correlated well with the natural condition (r = 0.79, p < 0.001); (2) no differences in pole force variables were found; peak force (r = 0.77, p < 0.01) and average force (r = 0.78, p < 0.01) correla…
Meaning in life among adolescents: Factorial invariance of the Purpose in Life Test and buffering effect on the relationship between emotional dysreg…
2019
Objective: The purpose of the present study was threefold: first, to analyse the psychometric properties of a 10‐item Spanish version of the Purpose in Life Test, which assesses meaning in life (MiL), in a sample of community adolescents; second, to analyse the differences between the age and gender groups; and third, to analyse whether MiL buffers the relationship between emotional dysregulation and hopelessness. Method: Participants were 1,599 adolescents from 12 to 19 years old, M = 15.69, SD = 2.14. The Purpose in Life Test‐10 Items, the Beck Hopelessness Scale, and the Difficulties in Emotional Regulation Scale were used. Results: A nine‐item version showed good fit, psychometric prope…
Recovery, relapse, or else? Treatment outcomes in gambling disorder from a multicenter follow-up study
2017
AbstractPurpose:Gambling disorder is associated with various adverse effects. While data on the immediate effectiveness of treatment programs are available, follow-up studies examining long-term effects are scarce and factors contributing to a stable therapy outcome versus relapse are under-researched.Materials and methods:Patients (n = 270) finishing inpatient treatment for gambling disorder regularly participated in a prospective multicenter follow-up study (pre-treatment, post-treatment, 12-month follow-up). Criteria for gambling disorder, psychopathology, functional impairment were defined as endpoints. Changes in personality were defined as an additional parameter.Results:At follow-up,…
Music-induced positive mood broadens the scope of auditory attention
2017
Previous studies indicate that positive mood broadens the scope of visual attention, which can manifest as heightened distractibility. We used event-related potentials (ERP) to investigate whether music-induced positive mood has comparable effects on selective attention in the auditory domain. Subjects listened to experimenter-selected happy, neutral or sad instrumental music and afterwards participated in a dichotic listening task. Distractor sounds in the unattended channel elicited responses related to early sound encoding (N1/MMN) and bottom-up attention capture (P3a) while target sounds in the attended channel elicited a response related to top-down-controlled processing of task-releva…
Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia
2014
Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (…
Time trends (1995–2008) in dietary habits among adolescents in relation to the Norwegian school fruit scheme: the HUNT study
2019
Abstract Introduction The importance of healthy eating in adolescence is well established. The present study examined possible effects of the free Norwegian School Fruit Scheme (NSFS), changes in dietary habits between 1995 and 2008, and whether secular changes in dietary habits differed among schools who implemented the NSFS during September 2007. Method We used data from the Young-HUNT1 survey conducted from 1995 to 1997 and the Young-HUNT3 survey conducted from 2006 to 2008, which are part of the Nord-Trøndelag Health Study (HUNT), a longitudinal population health study. To evaluate the NSFS, the date Young-HUNT3 participants answered the questionnaire was used to identify affiliation to…
Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18
2012
Objective To study genotype–phenotype correlation of ring chromosome 18 [r(18)] in 9 patients with 46,XN karyotype. Study design In 9 patients with a de novo 46,XN,r(18) karyotype (7 females, 2 males), we performed high-resolution single-nucleotide polymorphism array analysis (Illumina Human Omni1-QuadV1 array in 6 patients, Affymetrix 6.0 array in 3 patients), investigation of parental origin, and genotype–phenotype correlation. Results No breakpoint was recurrent. Single metaphases with loss of the ring, double rings, or secondarily rearranged rings were found in some cases, but true mosaicism was present in none of these cases. In 3 patients, additional duplications in 18p (of 1.4 Mb, 2 …