Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyper-activity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders, identifying three groups of inter-related disorders. Meta-analysis across these eight disorders detected 109 loci associated with at least two psychiatric disorders, including 23 loci with pleiotropic effects on four or more disorders and 11 loci with antagonistic effects on multiple disorders. The pleiotropic loci are located within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes. These findings have important implications for psychiatric nosology, drug development, and risk prediction.Peer reviewe

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

publisher: Elsevier articletitle: Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes journaltitle: Cell articlelink: https://doi.org/10.1016/j.cell.2018.05.046 content_type: article copyright: © 2018 Elsevier Inc

Verwijzing van patiënten met chronische nierschade: verschillen in verwijscriteria tussen ziekenhuizen.

Examining the extent to which the hospital criteria for referring patients with chronic renal failure from the GP to the specialist match the criteria in the Dutch National Transmural Agreement (LTA) for 'Chronic renal failure'. Descriptive study. Comparison of referral criteria in ZorgDomein ('Care Domain'), an Internet application available nationwide that facilitates referrals to medical specialists, with the criteria in the Dutch National Transmural Agreement (LTA) for 'Chronic renal failure'. More than half of the hospitals in the Netherlands use the referral application ZorgDomein. Thirty-one hospitals in ZorgDomein have criteria for referring patients with chronic renal failure. Four referral criteria are defined in the LTA. Depending on the criterion reviewed, they could be found in the referral agreements in 8-25 of the 31 hospitals. Referral criteria that were given often deviated from the content of the LTA. In nearly half of the hospitals, the limit values of the estimated glomerular filtration rate (eGRF) for referral were higher than the values included in the LTA. There is an undesirable variation in the referral criteria for chronic renal failure in the hospitals that use ZorgDomein. This can result in unnecessary referrals to the hospital. Medical and scientific associations, hospitals and ZorgDomein should adopt the referral criteria from the national guidelines

How to facilitate collaborative continuing and expansive learning?

Change is a constant in many organisations. Combining sustainable change processes with learning for the professionals involved ensures that participants acquire the capacity to transform a given situation and capably steer future change at the workplace. In this conceptual article, we reflect on an approach for designing and investigating change processes where learning and change co-occur: Change-Laboratory. We draw on a case from our empirical work in the Dutch healthcare domain, where participants in a change process discuss, describe and disseminate collaborative patient-care-agreements. The most critical outcome of a Change-Lab is transformative agency, which is an evolving capacity of the collective to seek new possibilities toward change. It is essential for participants’ lifelong continuing development. Universities would benefit from increased attention this outcome in order to learn expansively and facilitate these Change-Lab processes

Intraprofessional collaboration and learning between specialists and general practitioners during postgraduate training : a qualitative study

BACKGROUND: During postgraduate training, general practitioners and other specialists must learn how to deliver shared care to patients; however, the development of formal intraprofessional education is often hampered by curricular constraints. Delivering shared care in everyday work provides trainees with opportunities for informal learning from, about and with one another. METHODS: Twelve semi-structured interviews were undertaken with trainee general practitioners and specialists (internal medicine or surgery). A thematic analysis of the input was undertaken and a qualitative description developed. RESULTS: Trainees from different disciplines frequently interact, often by telephone, but generally they learn in a reactive manner. All trainees are highly motivated by the desire to provide good patient care. Specialist trainees learn about the importance of understanding the background of the patient from GPs, while GP trainees gain medical knowledge from the interaction. Trainees from different disciplines are not very motivated to build relationships with each other and have fewer opportunities to do so. Supervisors can play an important role in providing intraprofessional learning opportunities for trainees. CONCLUSIONS: During postgraduate training, opportunities for intraprofessional learning occur, but there is much room for improvement. For example, supervisors could increase the involvement of trainees in collaborative tasks and create more awareness of informal learning opportunities. This could assist trainees to learn collaborative skills that will enhance patient care

Challenges in measuring interprofessional-interorganisational collaboration with a questionnaire

Background: Collaboration between medical professionals from separate organisations is necessary to deliver good patient care. This care is influenced by professionals' perceptions about their collaboration. Until now, no instrument to measure such perceptions was available in the Netherlands. A questionnaire developed and validated in Spain was translated to assess perceptions about clinicians' collaboration in primary and secondary care in the Dutch setting. Aim: Validation in the Dutch setting of a Spanish questionnaire that aimed to assess perceptions of clinicians about interorganisational collaboration. Design & setting: After translation, cultural adaptation, and pre-testing, the questionnaire was sent to GPs and secondary care clinicians (SCCs) in three regions in the Netherlands. The responses of 445 responders were used to assess the validity and reliability of the questionnaire. Method: A confirmatory factor analysis (CFA) and an exploratory factor analysis (EFA) were performed to study the construct validity of the hypothesised factor model underlying the questionnaire. Test-retest reliability was evaluated using weighted Kappa statistics. Results: Results of the CFA indicated poor fit of the hypothesised factor structure. EFA, executed separately for each region, showed a highly unstable factor structure. The test-retest reliability analysis demonstrated low re-test reliability. Conclusion: The underlying factor structure of a Spanish questionnaire could not be reproduced. The construct validity and reliability of this questionnaire were insufficient to warrant use in the Dutch setting. This study demonstrates the need for evaluating validity and reliability of questionnaires in local settings

Challenges in measuring interprofessional-interorganisational collaboration with a questionnaire

Background: Collaboration between medical professionals from separate organisations is necessary to deliver good patient care. This care is influenced by professionals' perceptions about their collaboration. Until now, no instrument to measure such perceptions was available in the Netherlands. A questionnaire developed and validated in Spain was translated to assess perceptions about clinicians' collaboration in primary and secondary care in the Dutch setting. Aim: Validation in the Dutch setting of a Spanish questionnaire that aimed to assess perceptions of clinicians about interorganisational collaboration. Design & setting: After translation, cultural adaptation, and pre-testing, the questionnaire was sent to GPs and secondary care clinicians (SCCs) in three regions in the Netherlands. The responses of 445 responders were used to assess the validity and reliability of the questionnaire. Method: A confirmatory factor analysis (CFA) and an exploratory factor analysis (EFA) were performed to study the construct validity of the hypothesised factor model underlying the questionnaire. Test-retest reliability was evaluated using weighted Kappa statistics. Results: Results of the CFA indicated poor fit of the hypothesised factor structure. EFA, executed separately for each region, showed a highly unstable factor structure. The test-retest reliability analysis demonstrated low re-test reliability. Conclusion: The underlying factor structure of a Spanish questionnaire could not be reproduced. The construct validity and reliability of this questionnaire were insufficient to warrant use in the Dutch setting. This study demonstrates the need for evaluating validity and reliability of questionnaires in local settings

Transcending boundaries for collaborative patient care

Dutch general practitioners (GPs) and medical specialists (MSs) create collaborative patient care agreements (CPCAs) to improve intraprofessional collaboration. We set out to identify contradictions between the activity systems of primary and secondary care that could result in expansive learning and new ways of working collaboratively. We analysed nineteen semi-structured interviews using activity theory (AT) as a theoretical framework and using these two activity systems as the units of analysis. There were contradictions within and between the activity systems related, for example, to different understandings of ‘care’ in generalist and specialist settings. GPs and MSs were able to identify contradictions and learn expansively when they iteratively co-created CPCAs in groups. They found it much harder to tackle contradictions, however, when they disseminated these tools within their respective professional communities, leaving unresolved contradictions and missed opportunities for collaboration. This research shows the educational benefits of taking collective responsibility for improving collaborative patient care

Professionele leergemeenschappen : zo werkt het (goed)

Professionele leergemeenschappen (PLG’s) waarin docenten samenwerken blijken een positieve bijdrage te leveren aan de kwaliteit van het onderwijs en werkplezier van docenten. In een vijfjarig onderzoek dat is uitgevoerd door onderzoekers van drie universiteiten (Leiden, Rotterdam, Eindhoven) is op een unieke manier gekeken naar hoe je die PLG’s het beste kunt laten werken. Er is gekeken naar hoe PLG’s ondersteund kunnen worden, waarom docenten eraan deelnemen, wat het oplevert aan veranderingen bij docenten en in de klas. Ook is gedetailleerd gekeken naar hoe het samenwerken tijdens bijeenkomsten nu echt gaat, hoe gesprekken zich ontwikkelen over de tijd, en hoe je die gesprekken het beste kunt organiseren

Professionele leergemeenschappen: Zo werkt het (goed)

Professionele leergemeenschappen (PLG’s) waarin docenten samenwerken blijken een positieve bijdrage te leveren aan de kwaliteit van het onderwijs en werkplezier van docenten. In een vijfjarig onderzoek dat is uitgevoerd door onderzoekers van drie universiteiten (Leiden, Rotterdam, Eindhoven) is op een unieke manier gekeken naar hoe je die PLG’s het beste kunt laten werken. Er is gekeken naar hoe PLG’s ondersteund kunnen worden, waarom docenten eraan deelnemen, wat het oplevert aan veranderingen bij docenten en in de klas. Ook is gedetailleerd gekeken naar hoe het samenwerken tijdens bijeenkomsten nu echt gaat, hoe gesprekken zich ontwikkelen over de tijd, en hoe je die gesprekken het beste kunt organiseren