A phenomenological insight into the motivations, approaches, and knowledge of final year pre-registration nursing students

This thesis illuminates final year student nurses’ perceptions of their nurse education, and contributes both to the nursing and Higher Education (HE) literature. This thesis highlights both the approaches and motivations to learning student nurses take, the implications of this for wider public protection, and the role of the nurse. A qualitative phenomenological insider research study is undertaken, utilising a sample size of eighteen final year student nurses as the data source, undertaking semi-structured interviews from a United Kingdom (UK) Higher Education Institution (HEI). Data analysis is undertaken by using Interpretative Phenomenological Analysis (IPA). I argue that based upon the assumptions that student nurses make, in terms of their perceptions of what is and is not important from the curriculum, this changes approaches and motivations to learn. Subsequently, this causes gaps in the students’ knowledge. The perception of the role of the nurse is also found to be somewhat misjudged, and the holistic role of the nurse has been diminished. The theory practice gap is perceived by student nurses to not exist, yet whilst underpinning theoretical knowledge is limited there is a level of confidence. Furthermore, student nurses demonstrate a blissful ignorance towards the importance of knowledge for professional practice. Future practice as registrants may be affected, alongside the holistic role of the nurse being lost. Subsequent implications may be that patient care is adversely affected due to the approaches and motivations to learning that student nurses take

Research in action-developing and evaluating a student research placement experience

Evidence based practice is essential in the provision of high-quality contemporary nursing practice. Yet nursing students often lack an understanding of the research process because applied research experience is rarely facilitated in undergraduate nursing programmes. Students research knowledge is mostly gained via classroom based theoretical teaching; however, it is a challenging subject to teach and is often evaluated poorly by students who find the subject uninteresting and difficult to apply to their clinical practice. The aim of the study was to explore the experiences of student nurses after undertaking a nurse led primary research study placement. The study explores the students' experiences of a research placement using a phenomenological approach with the data collection method of drawings and narration which were then subject to Interpretive Phenomenological Analysis as a data analysis method. This study was undertaken with 18 nursing students who were enrolled in a United Kingdom university, who had recently participated in a nurse-led research study exploring the use of sensors to detect atrial fibrillation in members of the public in a supermarket. The following themes were developed by the researchers: Practice makes perfect, Enhancing communication, Research attitude, Making a difference, Increased confidence, Enhanced skills, Researcher collaborations, The views of others. Students valued the research placement; the experience provided insight into the conduct of research in primary health and allowed students to learn about research in an experiential way which proved to be more effective than usual classroom methods. Students' communication skills were enhanced, through interacting with the public in a different way, who were keen to engage with them because of their student status. [Abstract copyright: Crown Copyright © 2023. Published by Elsevier Ltd. All rights reserved.

How can students-as-partners work address challenges to student, faculty, and staff mental health and well-being?

Mental health has emerged as a critical area of attention in higher education, and educational research over the last 15 years has focused increasingly on emotions and wellbeing at all stages of education (Hill et al., 2021). While definitions of well-being vary, most are premised on “good quality of life” (Nair et al., 2018, p. 69). Within the last few years, we have experienced an intersection of several forces that undermine or threaten good quality of life. These include the uncertainties prompted by the COVID-19 pandemic (Hews et al., 2022, U.S. Surgeon General, n.d.), climate change (Charlson et al., 2021), racism and social injustices (Williams & Etkins, 2021), the cost-of-living crisis (Montacute, 2023), and the lack of motivation and higher incidence of mental health issues associated with growing concerns about job prospects and income (Chowdhury et al., 2022). This fifth iteration of Voices from the Field explores some of the ways in which students-as-partners work can address challenges to the mental health and well-being of students, faculty, and staff. This focus, proposed by members of the IJSaP Editorial Board, both responds to the intersecting realities named above and remains true to the goal of this section of the journal, which is to offer a venue for a wide range of contributors to address important questions around and aspects of students-as-partners work without going through the intensive submission, peer-review, and revision processes. The prompt we included in the call for this iteration of Voices was: “In what ways can students-as-partners work address challenges to the mental health and well-being of students, staff, and faculty posed by the current realities in the wider world (socio-political, environmental, economic, etc.) that affect higher education?

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility

Whole-genome sequencing of patients with rare diseases in a national health system

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

BACKGROUND: Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertension in large international cohorts and assessed the contribution of associated regions to outcomes. METHODS: We did two separate genome-wide association studies (GWAS) and a meta-analysis of pulmonary arterial hypertension. These GWAS used data from four international case-control studies across 11 744 individuals with European ancestry (including 2085 patients). One GWAS used genotypes from 5895 whole-genome sequences and the other GWAS used genotyping array data from an additional 5849 individuals. Cross-validation of loci reaching genome-wide significance was sought by meta-analysis. Conditional analysis corrected for the most significant variants at each locus was used to resolve signals for multiple associations. We functionally annotated associated variants and tested associations with duration of survival. All-cause mortality was the primary endpoint in survival analyses. FINDINGS: A locus near SOX17 (rs10103692, odds ratio 1·80 [95% CI 1·55-2·08], p=5·13 × 10-15) and a second locus in HLA-DPA1 and HLA-DPB1 (collectively referred to as HLA-DPA1/DPB1 here; rs2856830, 1·56 [1·42-1·71], p=7·65 × 10-20) within the class II MHC region were associated with pulmonary arterial hypertension. The SOX17 locus had two independent signals associated with pulmonary arterial hypertension (rs13266183, 1·36 [1·25-1·48], p=1·69 × 10-12; and rs10103692). Functional and epigenomic data indicate that the risk variants near SOX17 alter gene regulation via an enhancer active in endothelial cells. Pulmonary arterial hypertension risk variants determined haplotype-specific enhancer activity, and CRISPR-mediated inhibition of the enhancer reduced SOX17 expression. The HLA-DPA1/DPB1 rs2856830 genotype was strongly associated with survival. Median survival from diagnosis in patients with pulmonary arterial hypertension with the C/C homozygous genotype was double (13·50 years [95% CI 12·07 to >13·50]) that of those with the T/T genotype (6·97 years [6·02-8·05]), despite similar baseline disease severity. INTERPRETATION: This is the first study to report that common genetic variation at loci in an enhancer near SOX17 and in HLA-DPA1/DPB1 is associated with pulmonary arterial hypertension. Impairment of SOX17 function might be more common in pulmonary arterial hypertension than suggested by rare mutations in SOX17. Further studies are needed to confirm the association between HLA typing or rs2856830 genotyping and survival, and to determine whether HLA typing or rs2856830 genotyping improves risk stratification in clinical practice or trials. FUNDING: UK NIHR, BHF, UK MRC, Dinosaur Trust, NIH/NHLBI, ERS, EMBO, Wellcome Trust, EU, AHA, ACClinPharm, Netherlands CVRI, Dutch Heart Foundation, Dutch Federation of UMC, Netherlands OHRD and RNAS, German DFG, German BMBF, APH Paris, INSERM, Université Paris-Sud, and French ANR

Students' participation in collaborative research should be recognised

Letter to the editor