126 research outputs found

    Het verband tussen fonologische vaardigheden, voorbereidende rekenvaardigheden en korte-termijn geheugen bij jonge kinderen met een genetisch risico op dyslexie

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    Ontwikkelingsdyslexie (hierna te noemen: dyslexie) is een specifieke stoornis die leidt tot lees- en spellingsproblemen. Onderzoek heeft laten zien dat dyslexie vaak samen voorkomt met dyscalculie, een specifieke rekenstoornis. In dit onderzoek werd onderzocht of de co-morbiditeit tussen dyslexie en dyscalculie ook op jonge leeftijd te vinden is. Tevens werd onderzocht of een eventueel verband te verklaren is vanuit een tekort in de fonologische lus van het werkgeheugen. Hiertoe zijn de fonologische vaardigheden, voorbereidende rekenvaardigheden en capaciteit van de fonologische lus van het werkgeheugen van 23 kinderen met een genetisch risico op dyslexie vergeleken met die van 11 controlekinderen. Alle kinderen zaten ten tijde van het onderzoek in het einde van groep 2. Resultaten laten zien dat relatief meer risicokinderen slecht presteren op het herkennen en benoemen van letters. Bovendien scoorde de risicogroep slechter op een toets voor getalbegrip. Verder werd er een overlap gevonden tussen fonologische problemen en problemen met voorbereidende rekenvaardigheden. Deze overlap kon echter niet verklaard worden door een tekort in de fonologische lus van het werkgeheugen. Deze data benadrukken het belang van vroege diagnostiek aangezien er kinderen zijn die al op jonge leeftijd meerdere leerproblemen ondervinden

    Het verband tussen fonologische vaardigheden, voorbereidende rekenvaardigheden en korte-termijn geheugen bij jonge kinderen met een genetisch risico op dyslexie

    Get PDF
    Ontwikkelingsdyslexie (hierna te noemen: dyslexie) is een specifieke stoornis die leidt tot lees- en spellingsproblemen. Onderzoek heeft laten zien dat dyslexie vaak samen voorkomt met dyscalculie, een specifieke rekenstoornis. In dit onderzoek werd onderzocht of de co-morbiditeit tussen dyslexie en dyscalculie ook op jonge leeftijd te vinden is. Tevens werd onderzocht of een eventueel verband te verklaren is vanuit een tekort in de fonologische lus van het werkgeheugen. Hiertoe zijn de fonologische vaardigheden, voorbereidende rekenvaardigheden en capaciteit van de fonologische lus van het werkgeheugen van 23 kinderen met een genetisch risico op dyslexie vergeleken met die van 11 controlekinderen. Alle kinderen zaten ten tijde van het onderzoek in het einde van groep 2. Resultaten laten zien dat relatief meer risicokinderen slecht presteren op het herkennen en benoemen van letters. Bovendien scoorde de risicogroep slechter op een toets voor getalbegrip. Verder werd er een overlap gevonden tussen fonologische problemen en problemen met voorbereidende rekenvaardigheden. Deze overlap kon echter niet verklaard worden door een tekort in de fonologische lus van het werkgeheugen. Deze data benadrukken het belang van vroege diagnostiek aangezien er kinderen zijn die al op jonge leeftijd meerdere leerproblemen ondervinden

    Deliverable 6.1 - Demonstration prototype of the EuroMix model toolbox

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    This document describes in short the new features in a demonstration prototype of the EuroMix toolbox, developed as MCRA 8.2. An important aim of the EuroMix project is to develop and implement a web-based platform (the EuroMix toolbox) including data and models accessible to all key-actors in risk assessment and risk management. In the EuroMix project the development of a mixture selection module based on exposure was prioritised, because the choice of chemicals for the experiments depended on this. A mixture selection module was therefore developed, based on a method called sparse non-negative matrix under-approximation (SNMU). The mixture selection module was then applied to French and Dutch data, leading to a list of suggested chemicals for each adverse outcome pathway in the project

    Does familial risk for alcohol use disorder predict alcohol hangover?

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    Positive family history of alcohol use disorder (FHP), a variable associated with propensity for alcohol use disorder (AUD), has been linked with elevated hangover frequency and severity, after controlling for alcohol use. This implies that hangover experiences may be related to AUD. However, inadequate control of alcohol consumption levels, low alcohol dose and testing for hangover during the intoxication phase detract from these findings. Here, we present further data pertinent to understanding the relationship between family history and alcohol hangover. Study 1 compared past year hangover frequency in a survey of 24 FHP and 118 family history negative (FHN) individuals. Study 2 applied a quasi-experimental naturalistic approach assessing concurrent hangover severity in 17 FHP and 32 FHN individuals the morning after drinking alcohol. Both studies applied statistical control for alcohol consumption levels. In Study 1, both FHP status and estimated blood alcohol concentration on the heaviest drinking evening of the past month predicted the frequency of hangover symptoms experienced over the previous 12 months. In Study 2, estimated blood alcohol concentration the previous evening predicted hangover severity but FHP status did not. FHP, indicating familial risk for AUD, was not associated with concurrent hangover severity but was associated with increased estimates of hangover frequency the previous year

    Functional Restoration of CFTR Nonsense Mutations in Intestinal Organoids

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    Background: Pharmacotherapies for people with cystic fibrosis (pwCF) who have premature termination codons (PTCs) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are under development. Thus far, clinical studies focused on compounds that induce translational readthrough (RT) at the mRNA PTC location. Recent studies using primary airway cells showed that PTC functional restoration can be achieved through combining compounds with multiple mode-of-actions. Here, we assessed induction of CFTR function in PTC-containing intestinal organoids using compounds targeting RT, nonsense mRNA mediated decay (NMD) and CFTR protein modulation. Methods: Rescue of PTC CFTR protein was assessed by forskolin-induced swelling of 12 intestinal organoid cultures carrying distinct PTC mutations. Effects of compounds on mRNA CFTR level was assessed by RT-qPCRs. Results: Whilst response varied between donors, significant rescue of CFTR function was achieved for most donors with the quintuple combination of a commercially available pharmacological equivalent of the RT compound (ELX-02-disulfate or ELX-02ds), NMD inhibitor SMG1i, correctors VX-445 and VX-661 and potentiator VX-770. The quintuple combination of pharmacotherapies reached swelling quantities higher than the mean swelling of three VX-809/VX-770-rescued F508del/F508del organoid cultures, indicating level of rescue is of clinical relevance as VX-770/VX-809-mediated F508del/F508del rescue in organoids correlate with substantial improvement of clinical outcome. Conclusions: Whilst variation in efficacy was observed between genotypes as well as within genotypes, the data suggests that strong pharmacological rescue of PTC requires a combination of drugs that target RT, NMD and protein function

    An Integrated System for the Automated Recording and Analysis of Insect Behavior in T-maze Arrays

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    Host-plant resistance to insects like thrips and aphids is a complex trait that is difficult to phenotype quickly and reliably. Here, we introduce novel hardware and software to facilitate insect choice assays and automate the acquisition and analysis of movement tracks. The hardware consists of an array of individual T-mazes allowing simultaneous release of up to 90 insect individuals from their individual cage below each T-maze with choice of two leaf disks under a video camera. Insect movement tracks are acquired with computer vision software (EthoVision) and analyzed with EthoAnalysis, a novel software package that allows for automated reporting of highly detailed behavior parameters and statistical analysis. To validate the benefits of the system we contrasted two Arabidopsis accessions that were previously analyzed for differential resistance to western flower thrips. Results of two trials with 40 T-mazes are reported and we show how we arrived at optimized settings for the different filters and statistics. The statistics are reported in terms of frequency, duration, distance and speed of behavior events, both as sum totals and event averages, and both for the total trial period and in time bins of 1 h. Also included are higher level analyses with subcategories like short-medium-long events and slow-medium-fast events. The time bins showed how some behavior elements are more descriptive of differences between the genotypes during the first hours, whereas others are constant or become more relevant at the end of an 8 h recording. The three overarching behavior categories, i.e., choice, movement, and halting, were automatically corrected for the percentage of time thrips were detected and 24 out of 38 statistics of behavior parameters differed by a factor 2–6 between the accessions. The analysis resulted in much larger contrasts in behavior traits than reported previously. Compared to leaf damage assays on whole plants or detached leaves that take a week or more to complete, results were obtained in 8 h, with more detail, fewer individuals and higher significance. The potential value of the new integrated system, named EntoLab, for discovery of genetic traits in plants and insects by high throughput screening of large populations is discussed
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