A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function

Loss of function of the FMR1 gene leads to fragile X syndrome (FXS), the most common form of intellectual disability. The loss of FMR1 function is usually caused by epigenetic silencing of the FMR1 promoter leading to expansion and subsequent methylation of a CGG repeat in the 5′ untranslated region. Very few coding sequence variations have been experimentally characterized and shown to be causal to the disease. Here, we describe a novel FMR1 mutation and reveal an unexpected nuclear export function for the C-terminus of FMRP. We screened a cohort of patients with typical FXS symptoms who tested negative for CGG repeat expansion in the FMR1 locus. In one patient, we identified a guanine insertion in FMR1 exon 15. This mutation alters the open reading frame creating a short novel C-terminal sequence, followed by a stop codon. We find that this novel peptide encodes a functional nuclear localization signal (NLS) targeting the patient FMRP to the nucleolus in human cells. We also reveal an evolutionarily conserved nuclear export function associated with the endogenous C-terminus of FMRP. In vivo analyses in Drosophila demonstrate that a patient-mimetic mutation alters the localization and function of Dfmrp in neurons, leading to neomorphic neuronal phenotypes

Robust Target Gene Discovery through Transcriptome Perturbations and Genome-Wide Enhancer Predictions in Drosophila Uncovers a Regulatory Basis for Sensory Specification

CisTarget X is a novel computational method that accurately predicts Atonal governed regulatory networks in the retina of the fruit fly

Hervorming van het verbintenissen- en goederenrecht

Het boek bevat acht bijdragen, waarvan de ene helft over het verbintenissenrecht en de andere helft over het goederenrecht gaat. De twee eerste bijdragen zijn als inleiding op de hervormingen in beide rechtstakken bedoeld. Ignace Claeys gaat in op de opbouw van het nieuwe boek Verbintenissen, de doelstellingen van de hervorming, de belangrijkste wijzigingen, de aard van de nieuwe wetsbepalingen en de werking in de tijd. Annelies Wylleman geeft een overzicht van de belangrijkste wijzigingen van het nieuwe goederenrechten en gaat ook in op enkele aspecten van de werking in de tijd van Boek 3 “Goederen” van het nieuw Burgerlijk Wetboek. Vervolgens komt het ontstaan van de verbintenissen en de zakelijke rechten aan bod. De precontractuele fase, de totstandkoming en de geldigheid van de overeenkomst worden door Britt Weyts besproken. Joke Baeck focust dan weer op enkele kernvragen over het voorwerp en de verkrijging van zakelijke rechten, evenals op de belangrijkste nieuwigheden inzake onroerende publiciteit. De inhoud van de overeenkomst, de regels inzake overmacht en imprevisie en de sancties voor een contractuele wanprestatie komen aan bod in de bijdrage van Michaël de Potter de ten Broeck. Ghijsbrecht Degeest en Dorothy Gruyaert maken vervolgens een vergelijking tussen de rechten en plichten van partijen bij de zakelijke gebruiksrechten vruchtgebruik, erfpacht en opstal. De verschillende wijzen waarop een overeenkomst tot een einde kan komen, komen aan bod in de bijdrage van Thijs Tanghe. Ten slotte besteedt Charlotte Willemot aandacht aan de algemene en bijzondere wijzen van tenietgaan van zakelijke rechten

Barriers and facilitators in providing care for patients with a migration background

Aims and objectives: The aim of this study was to identify the barriers and facilitators experienced by healthcare professionals while caring for patients with a migration background. Background: People with a migration background often face several structural inequalities and barriers in terms of accessibility to, and affordability of, healthcare. In order to provide quality care for patients with a migration background, it is important to understand which barriers healthcare professionals experience that prevent them from providing care and which factors can facilitate this. Design and methods: Qualitative research following the COREQ criteria. A total of six focus groups (n = 37) and 12 individual interviews were conducted with a multidisciplinary sample: doctors, nurses, social workers, and occupational therapists. Nursing and medical students were also included. Thematic content analysis was used. Results: Key findings suggest that the main barrier is that healthcare professionals regard people with a migration background as “the other”. Healthcare professionals do not feel secure or competent to provide care for these “others.” According to the healthcare professionals, the hospital structures—and, particularly, the managerial instances—appear to be only slightly supportive. Structural barriers at the level of the healthcare system, such as limited implementation of care coordination and austerity measures (time pressure or economic restrictions), were also perceived as barriers. Facilitators can be the healthcare professionals' attitude or the flexibility of the management. Conclusions: Healthcare professionals experience barriers in caring for people with a migration background. Othering plays a key role in building or maintaining several barriers. A multilevel approach is necessary to tackle these barriers and enable facilitators. Relevance to clinical practice: Raising awareness about “othering” in the educational programs of students and healthcare professionals is essential. Also, deploying support mechanisms and valuing the competences of multicultural and multi-lingual healthcare professionals can help facilitate quality care for patients with a migrant background. Patient or Public Contribution: Patients, informal and formal caregivers participated in the study at several stages (e.g. by involving them during the research design phase or providing feedback and input at specific moments across the study). In addition, community participants played a key role also during the research design and data analysis phases as well as by facilitating patients' recruitment.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Culturally Sensitive Care: Definitions, Perceptions, and Practices of Health Care Professionals

Introduction: Research highlights that patients from ethnic minority groups often receive lower quality of care. This study contributes to the knowledge and understanding of culturally sensitive care and explores health care professionals’ definitions and perceptions of this concept and how they deliver this in practice. Method: This qualitative study conducted a total of six focus groups (n = 34) and four in-depth interviews with six categories of health care professionals in Belgium. Thematic content analysis was used. Results: The results indicate that the concept of culturally sensitive care is perceived quite narrowly. Professionals are likely to portray their own frame of reference and find it challenging to show empathy with patients with a different background. Othering (micro-racism by defining “the other”) is a powerful example. Discussion: The discussion reveals the significance of increasing cultural awareness and understanding, sensitizing about current narrow perceptions, and enhancing culturally sensitive care in the Belgian health care setting.SCOPUS: ar.jinfo:eu-repo/semantics/publishe