Novel genetic loci associated with hippocampal volume

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg =-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness

Diagnosis and management of hereditary haemochromatosis

Contains fulltext : 95805.pdf (publisher's version ) (Open Access

Interprofessional collaboration regarding patients' care plans in primary care: a focus group study into influential factors

Contains fulltext : 172847.pdf (publisher's version ) (Open Access)BACKGROUND: The number of people with multiple chronic conditions demanding primary care services is increasing. To deal with the complex health care demands of these people, professionals from different disciplines collaborate. This study aims to explore influential factors regarding interprofessional collaboration related to care plan development in primary care. METHODS: A qualitative study, including four semi-structured focus group interviews (n = 4). In total, a heterogeneous group of experts (n = 16) and health care professionals (n = 15) participated. Participants discussed viewpoints, barriers, and facilitators regarding interprofessional collaboration related to care plan development. The data were analysed by means of inductive content analysis. RESULTS: The findings show a variety of factors influencing the interprofessional collaboration in developing a care plan. Factors can be divided into 5 key categories: (1) patient-related factors: active role, self-management, goals and wishes, membership of the team; (2) professional-related factors: individual competences, domain thinking, motivation; (3) interpersonal factors: language differences, knowing each other, trust and respect, and motivation; (4) organisational factors: structure, composition, time, shared vision, leadership and administrative support; and (5) external factors: education, culture, hierarchy, domain thinking, law and regulations, finance, technology and ICT. CONCLUSIONS: Improving interprofessional collaboration regarding care plan development calls for an integral approach including patient- and professional related factors, interpersonal, organisational, and external factors. Further, the leader of the team seems to play a key role in watching the patient perspective, organising and coordinating interprofessional collaborations, and guiding the team through developments. The results of this study can be used as input for developing tools and interventions targeted at executing and improving interprofessional collaboration related to care plan development

Developing interprofessional care plans in chronic care: a scoping review

Contains fulltext : 172292.pdf (publisher's version ) (Open Access)BACKGROUND: The number of people suffering from one or more chronic conditions is rising, resulting in an increase in patients with complex health care demands. Interprofessional collaboration and the use of shared care plans support the management of complex health care demands of patients with chronic illnesses. This study aims to get an overview of the scientific literature on developing interprofessional shared care plans. METHODS: We conducted a scoping review of the scientific literature regarding the development of interprofessional shared care plans. A systematic database search resulted in 45 articles being included, 5 of which were empirical studies concentrating purely on the care plan. Findings were synthesised using directed content analysis. RESULTS: This review revealed three themes. The first theme was the format of the shared care plan, with the following elements: patient's current state; goals and concerns; actions and interventions; and evaluation. The second theme concerned the development of shared care plans, and can be categorised as interpersonal, organisational and patient-related factors. The third theme covered tools, whose main function is to support professionals in sharing patient information without personal contact. Such tools relate to documentation of and communication about patient information. CONCLUSION: Care plan development is not a free-standing concept, but should be seen as the result of an underlying process of interprofessional collaboration between team members, including the patient. To integrate the patients' perspectives into the care plans, their needs and values need careful consideration. This review indicates a need for new empirical studies examining the development and use of shared care plans and evaluating their effects

Special methodological challenges when studying the diagnosis of unexplained complaints in primary care.

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Family physicians' diagnostic gut feelings are measurable: construct validation of a questionnaire

Contains fulltext : 125453.pdf (publisher's version ) (Open Access)BACKGROUND: Family physicians perceive that gut feelings, i.e. a 'sense of reassurance' or a 'sense of alarm', play a substantial role in diagnostic reasoning. A measuring instrument is desirable for further research. Our objective is to validate a questionnaire measuring the presence of gut feelings in diagnostic reasoning. METHODS: We constructed 16 case vignettes from real practice situations and used the accompanying 'sense of reassurance' or the 'sense of alarm' as reference labels. Based on the results of an initial study (26 family physicians), we divided the case vignettes into a group involving a clear role for the sense of reassurance or the sense of alarm and a group involving an ambiguous role. 49 experienced family physicians evaluated each 10 vignettes using the questionnaire. Construct validity was assessed by testing hypotheses and an internal consistency procedure was performed. RESULTS: As hypothesized we found that the correlations between the reference labels and corresponding items were high for the clear-case vignettes (0.59 - 0.72) and low for the ambiguous-case vignettes (0.08 - 0.23). The agreement between the classification in clear sense of reassurance, clear sense of alarm and ambiguous case vignettes as derived from the initial study and the study population's judgments was substantial (Kappa = 0.62). Factor analysis showed one factor with opposites for sense of reassurance and sense of alarm items. The questionnaire's internal consistency was high (0.91). We provided a linguistic validated English-language text of the questionnaire. CONCLUSIONS: The questionnaire appears to be valid. It enables quantitative research into the role of gut feelings and their diagnostic value in family physicians' diagnostic reasoning