17 research outputs found

    Family coordination in families who have a child with autism spectrum disorder

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    Little is known about the interactions of families where there is a child with autism spectrum disorder (ASD). The present study applies the Lausanne Trilogue Play (LTP) to explore both its applicability to this population as well as to assess resources and areas of deficit in these families. The sample consisted of 68 families with a child with ASD, and 43 families with a typically developing (TD) child. With respect to the global score for family coordination there were several negative correlations: the more severe the symptoms (based on the child’s ADOS score), the more family coordination was dysfunctional. This correlation was particularly high when parents had to play together with the child. In the parts in which only one of the parents played actively with the child, while the other was simply present, some families did achieve scores in the functional range, despite the child’s symptom severity. The outcomes are discussed in terms of their clinical implications both for assessment and for interventio

    Fine-Tuning Enhancer Models to Predict Transcriptional Targets across Multiple Genomes

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    Networks of regulatory relations between transcription factors (TF) and their target genes (TG)- implemented through TF binding sites (TFBS)- are key features of biology. An idealized approach to solving such networks consists of starting from a consensus TFBS or a position weight matrix (PWM) to generate a high accuracy list of candidate TGs for biological validation. Developing and evaluating such approaches remains a formidable challenge in regulatory bioinformatics. We perform a benchmark study on 34 Drosophila TFs to assess existing TFBS and cis-regulatory module (CRM) detection methods, with a strong focus on the use of multiple genomes. Particularly, for CRM-modelling we investigate the addition of orthologous sites to a known PWM to construct phyloPWMs and we assess the added value of phylogenentic footprinting to predict contextual motifs around known TFBSs. For CRM-prediction, we compare motif conservation with network-level conservation approaches across multiple genomes. Choosing the optimal training and scoring strategies strongly enhances the performance of TG prediction for more than half of the tested TFs. Finally, we analyse a 35th TF, namely Eyeless, and find a significant overlap between predicted TGs and candidate TGs identified by microarray expression studies. In summary we identify several ways to optimize TF-specific TG predictions, some of which can be applied to all TFs, and others that can be applied only to particular TFs. The ability to model known TF-TG relations, together with the use of multiple genomes, results in a significant step forward in solving the architecture of gene regulatory networks

    The mechanical strength of additive manufactured intraosseous transcutaneous amputation prosthesis, known as the ITAP

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    The focus of this research is the ability to manufacture, when using layer base production methods, the medical insert known as ITAP used for prosthetic attachment in a femur. It has been demonstrated using computational modelling that a 3-dimensional build of the ITAP has the lowest stress present when the honeycomb infill pattern’s percentage is set at 100%, with the ITAP being constructed on a horizontal printing bed with the shear forces acting adjacent to the honeycomb structure. The testing has followed the British standard ISO 527-2:2012, which shows a layer base printed tensile test sample, with a print setting of 100% infill and at a side print orientation; this was found to withstand a greater load before failure than any other printed test configuration. These findings have been validated through simulations that analyses the compression, shear and torque forces acting upon an augmented femur, with an imbedded ITAP model

    Stressed rocks cause big landslides

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    Near-surface stress patterns, influenced by topography, control the size and location of the largest landslides - but not necessarily smaller ones - according to a study of mountains at the eastern edge of the Tibetan Plateau

    Exploring the Neural Underpinnings of an Antidepressant and Rewarding Action of Early Anorexia

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    International audienceOrganisms do not make the decision to feel hungry, but they can decide to satisfy, or to not satisfy, hunger.Consuming foods then maintains energy balance and can favor rewarding effects related to motivation toobtain food (“wanting”), defining eating behavior. In this context, this chapter describes part of the neuralbasis of eating behavior, focusing on critical action of serotonin (5-hydroxytryptamine, 5-HT) 4 receptors(5-HT4Rs) under stressful conditions. We found that 5-HT4Rs, located in an adaptive-decisive system(voluntary nervous system), including the medial prefrontal cortex and the nucleus accumbens, may favorrewarding and antidepressant effects of restrictive food intake (anorexia-like behavior). Here, we describeexperimental procedures which have been associated in order to study a part of the neural bases underlyingfood intake following intracerebral infusion of pharmacological and nucleic treatments (siRNA, virus) infreely moving mice treated or not with a recreational drug of abuse (“ecstasy”). It includes the descriptionof a micropunch technique required for analyzing specific downstream molecular events (cAMP: FRET,pCREB: Western blot, mRNA: RQ-PCR, binding sites: radioautography). Our conclusion introduces thatprocesses within the voluntary nervous system (underlying decision, motivation) could be modified toprevail over a cerebral autonomous control (hypothalamus) of hunger, compromising survival. The5-HT4Rs could be targeted with antagonist/inverse agonist combined to psychological approach to bettercope with the stressors related to anorexia and drug dependence
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