Search results for "ASD"

Metabolomics Study of Urine in Autism Spectrum Disorders Using a Multiplatform Analytical Methodology

2015

International audience; Autism spectrum disorder (ASD) is a neurodevelopmental disorder with no clinical biomarker. The aims of this study were to characterize a metabolic signature of ASD and to evaluate multiplatform analytical methodologies in order to develop predictive tools for diagnosis and disease follow-up. Urine samples were analyzed using (1)H and (1)H-(13)C NMR-based approaches and LC-HRMS-based approaches (ESI+ and ESI- on HILIC and C18 chromatography columns). Data tables obtained from the six analytical modalities on a training set of 46 urine samples (22 autistic children and 24 controls) were processed by multivariate analysis (orthogonal partial least-squares discriminant …

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abn…

2021

Fragile X syndrome (FXS; MIM 300624) is an X-linked genetic disorder characterized by physical abnormalities associated with intellectual disability and a wide spectrum of neurological and psychiatric impairments. FXS occurs more frequently in males, 1 in 5000 males and 1 in 8000 females accounting for 1-2% of overall intellectual disability (ID). In more than 99% of patients, FXS results from expansions of a CGG triplet repeat (>200 in male) of the FMR1 gene. In the last years an increasing number, albeit still limited, of FXS subjects carrying FMR1 mutations including deletions, splicing errors, missense, and nonsense variants was reported. Nevertheless, the studies concerning the func…

Vēstures un filoloģijas zinātnes, 1. sērija

1956

Study of Gasdynamic Electron Cyclotron Resonance Plasma Vacuum Ultraviolet Emission to Optimize Negative Hydrogen Ion Production Efficiency

2019

Negative hydrogen ion sources are used as injectors into accelerators and drive the neutral beam heating in ITER. Certain processes in low-temperature hydrogen plasmas are accompanied by the emission of vacuum ultraviolet (VUV) emission. Studying the VUV radiation therefore provides volumetric rates of plasma-chemical processes and plasma parameters. In the past we have used gasdynamic ECR discharge for volumetric negative ion production and investigated the dependencies between the extracted H$^-$ current density and various ion source parameters. It was shown that it is possible to reach up to 80 mA/cm$^2$ of negative ion current density with a two electrode extraction. We report experime…

Parenting Stress in Mothers of Children With Autism Without Intellectual Disability. Mediation of Behavioral Problems and Coping Strategies

2019

The present study investigated the mediating role of behavioral difficulties, coping strategies, and social functional support in the relationship between symptoms severity and parenting stress in mothers of children with ASD (autism spectrum disorder). The parenting stress questionnaire, coping orientation to problems experienced scale, strengths and difficulties questionnaire, and Duke-UNC social support questionnaire were administered to 52 mothers, who also estimated the ASD severity symptoms of their children. Correlation analyses revealed that parenting stress was positively correlated with the children's ASD symptoms and behavioral problems. On the other hand, parenting stress was ne…

On the Playing Field to Improve: A Goal for Autism.

2020

In recent years, there has been a renewed attention to lifestyle-based interventions in people with autism spectrum disorder. The positive effects of physical exercise programs have been well documented both in healthy people and in people with disabilities in the fields of psychological well-being, cognitive outcome and medical health. There is much less evidence about the opportunity to attempt a team-group sport for people with autism. Although researchers seem to suggest an overall positive effect, playing team sports for people with autism spectrum disorder (ASD) means dealing with difficulties in social interactions and limitations in motor functions. This narrative review aims to rep…

The second round of Critical Assessment of Automated Structure Determination of Proteins by NMR: CASD-NMR-2013

2015

The second round of the community-wide initiative Critical Assessment of automated Structure Determination of Proteins by NMR (CASD-NMR-2013) comprised ten blind target datasets, consisting of unprocessed spectral data, assigned chemical shift lists and unassigned NOESY peak and RDC lists, that were made available in both curated (i.e. manually refined) or un-curated (i.e. automatically generated) form. Ten structure calculation programs, using fully automated protocols only, generated a total of 164 three-dimensional structures (entries) for the ten targets, sometimes using both curated and un-curated lists to generate multiple entries for a single target. The accuracy of the entries could…

Analysis of the structural quality of the CASD-NMR 2013 entries.

2015

We performed a comprehensive structure validation of both automated and manually generated structures of the 10 targets of the CASD-NMR-2013 effort. We established that automated structure determination protocols are capable of reliably producing structures of comparable accuracy and quality to those generated by a skilled researcher, at least for small, single domain proteins such as the ten targets tested. The most robust results appear to be obtained when NOESY peak lists are used either as the primary input data or to augment chemical shift data without the need to manually filter such lists. A detailed analysis of the long-range NOE restraints generated by the different programs from t…

Latviešu tautasdziesmas kā pirmsskolas vecuma bērnu muzikālās dzirdes un balss attīstīšanas līdzeklis

1995

THE EFFECT OF INBOUND, OUTBOUND AND COUPLED INNOVATION ON PERFORMANCE

2012

The focus of this paper is on exploring linkages among Open Innovation practices and firm performance. While, in the last ten years, a certain amount of papers facing such issue has been published, most of them treat inbound, outbound, and coupled innovation practice processes separately respect to different dimensions of innovation and financial performance. We argue that the concurrent influence of specific Open Innovation practices on both innovation and economic-financial firms' performance has not been investigated so far into the literature and it is of primary managerial importance. We empirically test our framework on a sample of 105 companies listed on the Industrial Machinery and…