End-of-life care in the Dutch medical curricula

INTRODUCTION: Future doctors must be trained in giving appropriate care to terminal patients. In several countries, medical curricula have been reviewed for the attention devoted to end-of-life care (ELC). In the Netherlands, no formal review had been performed. Therefore, the aim of this study was to provide an overview of the Dutch medical curricula regarding ELC. METHODS: We formed a checklist based on international standards consisting of five domains of ELC education that are considered essential. Firstly, we studied the Dutch national blueprint on medical education. Secondly, using a questionnaire based on the checklist we studied the curricula of the eight medical faculties. A questionnaire was sent to all Dutch medical faculties to study the compulsory courses of the curricula. To assess the elective courses, we consulted the study guides. RESULTS: The national blueprint included four of the five domains of ELC. None of the eight medical faculties taught all domains specifically on ELC; they were taught within other courses. Most attention was given to the domains on psychological, sociological, cultural and spiritual aspects; communication and conversational techniques; and juridical and ethical aspects. One faculty taught an elective course that included all essential aspects of the international standards. DISCUSSION: Our study shows that ELC is currently insufficiently mentioned in the national blueprint and that none of the faculties fully integrated ELC as a part of their compulsory medical curricula. To improve ELC education, we recommend the Dutch Federation of University Medical Centres to add the five ELC domains to the national blueprint and we recommend the medical faculties to review their curricula and offer a separate and compulsory course on ELC to prepare their students for their future medical practice

Barriers and facilitators that hospital clinicians perceive to discuss the personal values, wishes, and needs of patients in palliative care: a mixed-methods systematic review

Background: The exploration and monitoring of the personal values, wishes, and needs (VWN) of patients in the palliative phase by hospital clinicians is essential for guiding appropriate palliative care. Objective: To explore the barriers and facilitators concerning communication with patients in the palliative phase about their VWN as perceived by hospital clinicians. Design: A mixed-methods systematic review following the Joanna Briggs Institute guidelines for mixed-method systematic reviews and Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines was conducted (PROSPERO ID: CRD42021216693). Data sources and methods: Eight databases, including PubMed, Embase, and CINAHL, were searched without time restrictions. The search string was built using the search Palliative cAre Literature rEview iTeraTive mEthod (PALETTE) framework. Eligible studies focused on (1) hospital clinicians and (2) perceived barriers and facilitators regarding the exploration and monitoring of the VWN of adult patients in the palliative phase. Two researchers independently selected articles and evaluated the quality. Findings were synthesized using a convergent integrated approach. Results: In total, 29 studies were included: 14 quantitative, 13 qualitative, and 2 mixed methods. Five synthesized findings were identified: (1) the clinician’s professional manners, (2) the image formed of the patient and loved ones, (3) the human aspect of being a clinician, (4) the multidisciplinary collaboration, and (5) the contextual preconditions. Most studies seemed focused on communication about treatment decision making. Conclusion: A patient-centered approach seems lacking when clinicians discuss the patient’s VWN, since most studies focused on treatment decision making rather than on the exploration and monitoring of the multidimensional well-being of patients. This review emphasizes the need for the development and integration of a systematic approach to explore and monitor the patients’ VWN to improve appropriate palliative care in hospitals

The genetic architecture of the human cerebral cortex

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

The genetic architecture of the human cerebral cortex

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Abstract: Purpose: To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. Conclusion: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making

“Are you listening?”: Experiences shared online by family caregivers of patients in the palliative phase during the Covid-19-pandemic - Dataset

In this study, we investigated the experiences of family caregivers of patients in the palliative phase during the first wave of the Covid-19-pandemic in the Netherlands (March-June 2020). We analysed social media posts and online newspaper articles to investigate family caregivers&apos; experiences. The dataset published here contains 357 Tweet IDs, 20 anonymised Facebook posts and 17 online newspaper articles. 18 forum posts were also analysed in this study, but those could not be made available due to the terms and services of the forum platforms

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

Item does not contain fulltextBACKGROUND: Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies. METHODS: A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second nonindependent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated. RESULTS: The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk. CONCLUSION: Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers. IMPACT: Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

International audienceGenome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P &lt; 5 × 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1