Search results for "Disorder"

2021

The CMS4 mesenchymal subtype of colorectal cancer (CRC) is associated with poor prognosis and resistance to treatment. The cellular prion protein PrPC is overexpressed in CMS4 tumors and controls the expression of a panel of CMS4-specific genes in CRC cell lines. Here, we sought to investigate PrPC downstream pathways that may underlie its role in CMS4 CRC. By combining gene set enrichment analyses and gain and loss of function approaches in CRC cell lines, we identify the integrin-linked kinase ILK as a proximal effector of PrPC that mediates its control on the CMS4 phenotype. We further leveraged three independent large CRC cohorts to assess correlations in gene expression pattern with pa…

Stage-specific control of oligodendrocyte survival and morphogenesis by TDP-43

2021

AbstractGeneration of oligodendrocytes in the adult brain enables both adaptive changes in neural circuits and regeneration of myelin sheaths destroyed by injury, disease, and normal aging. This transformation of oligodendrocyte precursor cells (OPCs) into myelinating oligodendrocytes requires processing of distinct mRNAs at different stages of cell maturation. Although mislocalization and aggregation of the RNA binding protein TDP-43 occur in both neurons and glia in neurodegenerative diseases, the consequences of TDP-43 loss within different stages of the oligodendrocyte lineage are not well understood. By performing stage-specific genetic inactivation of Tardbp in vivo, we show that olig…

Verbesserung der Impuls- und Emotionsregulation bei Binge-Eating-Störungen

2019

Zusammenfassung. Impulsivität beeinflusst die Verarbeitung von störungsspezifischen Reizen und die Handlungskompetenz hinsichtlich der Nahrungsaufnahme. Neuere Studien adressieren daher unterschiedliche Facetten impulsiven Erlebens und Verhaltens, um eine Reduktion von Essanfällen und des Körpergewichts bei der Binge-Eating-Störung (BES) zu erzielen. ImpulsE ist ein Therapieprogramm zur Verbesserung der Impuls- und Emotionsregulationsfertigkeiten, welches mit einem computergestützten nahrungsbezogenen Inhibitionstraining kombiniert und mit einer Standardbehandlung (TAU) verglichen wurde. N = 31 Personen mit BES nahmen teil (n = 22 ImpulsE, n = 9 TAU). Die Ergebnisse zeigten Verbesserungen …

1H, 13C, and 15N NMR chemical shift assignment of the complex formed by the first EPEC EspF repeat and N-WASP GTPase binding domain

2021

AbstractLEE-encoded effector EspF (EspF) is an effector protein part of enteropathogenic Escherichia coli’s (EPEC’s) arsenal for intestinal infection. This intrinsically disordered protein contains three highly conserved repeats which together compose over half of the protein’s complete amino acid sequence. EPEC uses EspF to hijack host proteins in order to promote infection. In the attack EspF is translocated, together with other effector proteins, to host cell via type III secretion system. Inside host EspF stimulates actin polymerization by interacting with Neural Wiskott-Aldrich syndrome protein (N-WASP), a regulator in actin polymerization machinery. It is presumed that EspF acts by di…

Le goût sucré, de l’enfance… à la dépendance ?

2013

Summary: Can one talk about addiction to sugar? Sugar is an important part of our diet, and an important source of pleasure, as of a young age. The definition of addiction involves that addictive substances act on the reward circuit, and lead to two symptoms, withdrawal and tolerance. Is it the case with sugar? According to the literature, brain activations in regions involved in the reward circuit are observed in response to “sugar”, and they differ according to the type of sugar (caloric carbohydrates, sweet or not; sweeteners). Besides, withdrawal and tolerance symptoms are not well characterized: food cravings often concern sweet foods, but there is a decrease with age of the preference…

Exploring the profiles of children with autism spectrum disorder: association with family factors.

2019

This study aimed to identify different profiles of children with autism spectrum disorder (ASD) without intellectual disability (ID) and maternal factors characteristic of these profiles. Participants were 89 children between 7 and 11 years old and their mothers, distributed in two groups, 52 children with ASD and 37 with typical development (TD). Based on the children’s adaptive, behavioral, and pragmatic manifestations, three clusters were obtained in the ASD group. Children with the most serious difficulties in all the domains assessed were assigned to Cluster 1, whereas the children in Cluster 3 were characterized by relatively minor problems. Cluster 2 comprised children with moderate …

Enhancing daily living skills in four adults with autism spectrum disorder through an embodied digital technology-mediated intervention

2019

Abstract Background The acquisition of daily living skills is fundamental in the education of people with Autism Spectrum Disorder (ASD), especially of those with Intellectual Disability (ID), because this can significantly contribute to their autonomy, self-confidence and overall life satisfaction. The purpose of this study was to assess the impact of an embodied Digital Technology (DT)-mediated intervention, compared to a Treatment-As-Usual (TAU) intervention, for enhancing two daily living skills: washing dishes and doing laundry. Method Four males of between 25 and 37 years old with ASD and ID participated in the study. The two interventions were based on audio and picture prompting ins…

A Review of the State-of-the-Art of Assistive Technology for People with ASD in the Workplace and in Everyday Life

2019

Part 8: Digital Divide and Social Inclusion; International audience; Autism, also known as autism spectrum disorder (ASD), is an incurable brain-based disorder that refers to a wide range of complex neurodevelopment disorders characterised by marked difficulties in communication and social skills, repetitive behaviour, highly focused interests and sensory sensitivity. Autism can present challenges for affected people at the work environment and in everyday life. The barrier for individuals with ASD increases further with changing environmental situations. Individuals with ASD have limited abilities to isolate their Five senses and often experience over- or under-sensitivity to sounds, touch…

A framework of evidence-based practice for digital support, co-developed with and for the autism community

2020

A wide array of digital supports (such as apps) have been developed for the autism community, many of which have little or no evidence to support their effectiveness. A Delphi study methodology was used to develop a consensus on what constitutes good evidence for digital supports among the broader autism community, including autistic people and their families, as well as autism-related professionals and researchers. A four-phase Delphi study consultation with 27 panel members resulted in agreement on three categories for which evidence is required: reliability, engagement and effectiveness of the technology. Consensus was also reached on four key sources of evidence for these three categor…

The cholinergic system in Down's syndrome

2006

The cholinergic system is one of the most important modulatory neurotransmitter systems in the brain. Alterations of the transmission communicators are accompanied by reduction of the cortical activity, which is associated with a learning and memory deficit. Down's syndrome is a pathological condition characterized by a high number of abnormalities that involve the brain.The cholinergic system is involved in alterations of the neurological system such as severe learning difficulties.To explain these alterations, important results are obtained from studies about murine trisomy 16 (animal model of Down's syndrome).The results obtained provide useful elements in the improvement of knowledge ab…