37 research outputs found
Medical studentsâ reactions to an experience-based learning model of clinical education
An experience-based learning (ExBL) model proposes: Medical students learn in workplaces by âsupported participationâ; affects are an important dimension of support; many learning outcomes are affective; supported participation influences studentsâ professional identity development. The purpose of the study was to check how the model, which is the product of a series of earlier research studies, aligned with studentsâ experiences, akin to the âmember checkingâ stage of a qualitative research project. In three group discussions, a researcher explained ExBL to 19 junior clinical students, who discussed how it corresponded with their experiences of clinical learning and were given a written prĂ©cis of it to take away. One to 3 weeks later, they wrote 500-word reflective pieces relating to their subsequent experiences with ExBL. Four researchers conducted a qualitative analysis. Having found many instances of responses âresonatingâ to the model, the authors systematically identified and coded respondentsâ âresonancesâ to define how they aligned with their experiences. 120 resonances were identified. Seventy (58 %) were positive experiences and 50 (42 %) negative ones. Salient experiences were triggered by the learning environment in 115 instances (96 %) and by learners themselves in 5 instances (4 %), consistent with a strong effect of environment on learning processes. Affective support was apparent in 129 of 203 statements (64 %) of resonances and 118 learning outcomes (58 %) were also affective. ExBL aligns with medical studentsâ experiences of clinical learning. Subject to further research, these findings suggest ExBL could be used to support the preparation of faculty and students for workplace learning
Do Queens of Bumblebee Species Differ In Their Choice Of Flower Colour Morphs Of Corydalis Cava (Fumariaceae)?
International audienceAbstractBumblebee queens require a continuous supply of flowering food plants from early spring for the successful development of annual colonies. Early in spring, Corydalis cava provides essential nectar and pollen resources and a choice of flower colour. In this paper, we examine flower colour choice (purple or white) in C. cava and verify the hypothesis that bumblebee queens differ in their choice of flower colour. A total of 10,615 observations of flower visits were made in spring 2011 and spring 2014 near PoznaĆ, western Poland. Our results suggest that Bombus lucorum/cryptarum used purple flowers less, while Bombus terrestris used purple flowers more and Bombus hortorum showed no preference. Therefore, the colour morphs of C. cava are probably co-evolutionary adaptations to the development of another part of the insect community which has different colour preferences
Genetic mechanisms of critical illness in COVID-19.
Host-mediated lung inflammation is present1, and drives mortality2, in the critical illness caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with critical illness may identify mechanistic targets for therapeutic development3. Here we report the results of the GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study in 2,244 critically ill patients with COVID-19 from 208 UK intensive care units. We have identified and replicated the following new genome-wide significant associations: on chromosome 12q24.13 (rs10735079, PÂ =Â 1.65Â ĂÂ 10-8) in a gene cluster that encodes antiviral restriction enzyme activators (OAS1, OAS2 and OAS3); on chromosome 19p13.2 (rs74956615, PÂ =Â 2.3Â ĂÂ 10-8) near the gene that encodes tyrosine kinase 2 (TYK2); on chromosome 19p13.3 (rs2109069, PÂ =Â 3.98Â ĂÂ Â 10-12) within the gene that encodes dipeptidyl peptidase 9 (DPP9); and on chromosome 21q22.1 (rs2236757, PÂ =Â 4.99Â ĂÂ 10-8) in the interferon receptor gene IFNAR2. We identified potential targets for repurposing of licensed medications: using Mendelian randomization, we found evidence that low expression of IFNAR2, or high expression of TYK2, are associated with life-threatening disease; and transcriptome-wide association in lung tissue revealed that high expression of the monocyte-macrophage chemotactic receptor CCR2 is associated with severe COVID-19. Our results identify robust genetic signals relating to key host antiviral defence mechanisms and mediators of inflammatory organ damage in COVID-19. Both mechanisms may be amenable to targeted treatment with existing drugs. However, large-scale randomized clinical trials will be essential before any change to clinical practice
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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Funder: University of Cambridge; FundRef: http://dx.doi.org/10.13039/501100000735Funder: Alzheimer's Society; FundRef: http://dx.doi.org/10.13039/501100000320Funder: Leverhulme Trust; FundRef: http://dx.doi.org/10.13039/501100000275Funder: National Institute for Health Research; FundRef: http://dx.doi.org/10.13039/501100000272Funder: Department of Health; FundRef: http://dx.doi.org/10.13039/501100000276Funder: Evelyn Trust; FundRef: http://dx.doi.org/10.13039/501100004282Funder: Wellcome Trust; FundRef: http://dx.doi.org/10.13039/100004440Funder: Medical Research Council; FundRef: http://dx.doi.org/10.13039/501100000265Abstract: Objective: To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. Design: Cohort study. Setting: National Health Service, England, including secondary and tertiary care. Participants: 345 patients with suspected mitochondrial disorders recruited to the 100 000 Genomes Project in England between 2015 and 2018. Intervention: Short read whole genome sequencing was performed. Nuclear variants were prioritised on the basis of gene panels chosen according to phenotypes, ClinVar pathogenic/likely pathogenic variants, and the top 10 prioritised variants from Exomiser. Mitochondrial DNA variants were called using an in-house pipeline and compared with a list of pathogenic variants. Copy number variants and short tandem repeats for 13 neurological disorders were also analysed. American College of Medical Genetics guidelines were followed for classification of variants. Main outcome measure: Definite or probable genetic diagnosis. Results: A definite or probable genetic diagnosis was identified in 98/319 (31%) families, with an additional 6 (2%) possible diagnoses. Fourteen of the diagnoses (4% of the 319 families) explained only part of the clinical features. A total of 95 different genes were implicated. Of 104 families given a diagnosis, 39 (38%) had a mitochondrial diagnosis and 65 (63%) had a non-mitochondrial diagnosis. Conclusion: Whole genome sequencing is a useful diagnostic test in patients with suspected mitochondrial disorders, yielding a diagnosis in a further 31% after exclusion of common causes. Most diagnoses were non-mitochondrial disorders and included developmental disorders with intellectual disability, epileptic encephalopathies, other metabolic disorders, cardiomyopathies, and leukodystrophies. These would have been missed if a targeted approach was taken, and some have specific treatments
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)
Editorial
Safer Communities would like to welcome Hannah Smithson as new co-editor of the journal. Hannah would like to thank Emerald Group Publishing and co-editor, Tim Bateman for inviting her to join the Safer Communities Team. She is very much looking forward to contributing to the journal, in what looks to be a changing and uncertain period within the field of criminal justice and community safety. All of the papers in this issue touch upon the impact of cuts in public spending and the potential affects to the criminal justice system for both those working within it and those individuals it deals with. Safer Communities expects and welcomes more papers focusing on the effects of public spending cut
The quality of content analyses of state student achievement tests and state content standards. Educational Measurement: Issues and Practice
A Diverse Tetrapod Fauna at the Base of 'Romer's Gap'.
The lack of fossil tetrapod bearing deposits in the earliest Carboniferous ('Romer's Gap') has provoked some recent discussions regarding the proximal cause, with three explanations being offered: environmental, taphonomic, and collection failure. One of the few, and earliest, windows into this time is the locality of Blue Beach exposed in the Tournaisian deposits at Horton Bluff lying along the Avon River near Hantsport, Nova Scotia, Canada. This locality has long been known but, because the fossils were deposited in high energy settings they are almost always disarticulated, so the fauna has not been described in detail. Recent intensive collection has revealed a diverse assemblage of material, including for the first time associated elements, which permits an evaluation of the faunal constituents at the locality. Although not diagnosable to a fine taxonomic level, sufficient apomorphies are present to identify representatives from numerous clades known from more complete specimens elsewhere. The evidence suggests a diverse fauna was present, including whatcheeriids and embolomeres. A single humerus previously had been attributed to a colosteid, but there is some uncertainty with this identification. Additional elements suggest the presence of taxa otherwise only known from the late Devonian. Depositional biases at the locality favor tetrapod fossils from larger individuals, but indirect evidence from trackways and tantalizing isolated bones evidences the presence of small taxa that remain to be discovered. The fossils from Blue Beach demonstrate that when windows into the fauna of 'Romer's Gap' are found a rich diversity of tetrapods will be shown to be present, contra arguments that suggested this hiatus in the fossil record was due to extrinsic factors such as atmospheric oxygen levels. They also show that the early tetrapod fauna is not easily divisible into Devonian and Carboniferous faunas, suggesting that some tetrapods passed through the end Devonian extinction event unaffected
Reinterpreting the age of the uppermost âOld Red Sandstoneâ and Early Carboniferous in Scotland
In Scotland the base of the Ballagan Formation has traditionally been placed at the first grey mudstone within a contiguous Late Devonian to Carboniferous succession. This convention places the Devonian-Carboniferous boundary within the Old Red Sandstone Kinnesswood Formation. The consequences of this placement are that the tetrapods from the Ballagan Formation were dated as late Tournaisian in age and that the ranges of typically Devonian fish found in the Kinnesswood Formation continue into the Carboniferous. The Pease Bay specimen of the fish Remigolepis is from the Kinnesswood Formation. Comparisons with its range in Greenland, calibrated against spores, shows it to be Famennian in age. Detailed palynological sampling at Burnmouth from the base of the Ballagan Formation proves that the early Tournaisian spore zones (VI and HD plus Cl 1) are present. The Schopfites species that occurs through most of the succession is S. delicatus rather than S. claviger. The latter species defines the late Tournaisian CM spore zone. The first spore assemblage that has been found in upper âORSâ strata underlying the Ballagan Formation (Preston, Whiteadder Water), contains Retispora lepidophyta and is from the early latest Famennian LL spore zone. The spore samples are interbedded with volcaniclastic debris which shows that the Kelso Volcanic Formation is, in part, early latest Famennian in age. These findings demonstrate that the Ballagan Formation includes most of the Tournaisian with the Devonian-Carboniferous boundary positioned close to the top of the Kinnesswood Formation. The Stage 6 calcrete at Pease Bay can be correlated to the equivalent section at Carham showing that it represents a time gap equivalent to the latest Famennian glaciation(s). Importantly some of the recently described Ballagan Formation tetrapods are older than previously dated and now fill the key early part of Romerâs Gap