34 research outputs found

    Using ChatGPT in Education: Human Reflection on ChatGPT’s Self-Reflection

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    ChatGPT is a fascinating AI text generator tool. It is a language model developed by OpenAI, a research and deployment company with the mission, according to OpenAI’s website: “to ensure that artificial general intelligence benefits all of humanity”. ChatGPT is able to generate human-like texts. But how does it work? What about the quality of the texts it provides? And is it capable of being self-reflective? Information sources must be efficient, effective and reliable in education, in order to enhance students’ learning process. For this reason, we started a dialogue with ChatGPT-3 while using, among others, a SWOT analysis it generated about its own functioning in an educational setting. This enabled us, as human authors, to analyze the extent to which this AI system is able to practice self-reflection. Finally, the paper sketches implications for education and future research

    High prevalence of non-accidental trauma among deceased children presenting at Level I trauma centers in the Netherlands

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    PURPOSE: Between 0.1—3% of injured children who present at a hospital emergency department ultimately die as a result of their injuries. These events are typically reported as unnatural causes of death and may result from either accidental or non-accidental trauma (NAT). Examples of the latter include trauma that is inflicted directly or resulting from neglect. Although consultation with a forensic physician is mandatory for all deceased children, the prevalence of fatal inflicted trauma or neglect among children is currently unclear. METHODS: This is a retrospective study that included children (0–18 years) who presented and died at one of the 11 Level I trauma centers in the Netherlands between January 1, 2014, and January 1, 2019. Outcomes were classified based on the conclusions of the Child Abuse and Neglect team or those of forensic pathologists and/or the court in cases referred for legally mandated autopsies. Cases in which conclusions were unavailable and there was no clear accidental cause of death were reviewed by an expert panel. RESULTS: The study included 175 cases of childhood death. Seventeen (9.7%) of these children died due to inflicted trauma (9.7%), 18 (10.3%) due to neglect, and 140 (80%) due to accidents. Preschool children (< 5 years old) were significantly more likely to present with injuries due to inflicted trauma and neglect compared to older children (44% versus 6%, p < 0.001, odds ratio [OR] 5.80, 95% confidence interval [CI] 2.66–12.65). Drowning accounted for 14 of the 18 (78%) pediatric deaths due to neglect, representing 8% of the total cases. Postmortem radiological studies and autopsies were performed on 37 (21%) of all cases of childhood death. CONCLUSION: One of every five pediatric deaths in our nationwide Level I trauma center study was attributed to NAT; 44% of these deaths were the result of trauma experienced by preschool-aged children. A remarkable number of fatal drownings were due to neglect. Postmortem radiological studies and autopsies were performed in only one-fifth of all deceased children. The limited use of postmortem investigations may have resulted in missed cases of NAT, which will result in an overall underestimation of fatal NAT experienced by children. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12024-021-00416-7

    Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

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    BACKGROUND: The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS: Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS: We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P=4.2×10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P=4.0×10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P=0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P=0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P=2.0×10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P=2.5×10(-7)). CONCLUSIONS: We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease. (Funded by the National Institutes of Health and others.).Supported by a career development award from the National Heart, Lung, and Blood Institute, National Institutes of Health (NIH) (K08HL114642 to Dr. Stitziel) and by the Foundation for Barnes–Jewish Hospital. Dr. Peloso is supported by the National Heart, Lung, and Blood Institute of the NIH (award number K01HL125751). Dr. Kathiresan is supported by a Research Scholar award from the Massachusetts General Hospital, the Donovan Family Foundation, grants from the NIH (R01HL107816 and R01HL127564), a grant from Fondation Leducq, and an investigator-initiated grant from Merck. Dr. Merlini was supported by a grant from the Italian Ministry of Health (RFPS-2007-3-644382). Drs. Ardissino and Marziliano were supported by Regione Emilia Romagna Area 1 Grants. Drs. Farrall and Watkins acknowledge the support of the Wellcome Trust core award (090532/Z/09/Z), the British Heart Foundation (BHF) Centre of Research Excellence. Dr. Schick is supported in part by a grant from the National Cancer Institute (R25CA094880). Dr. Goel acknowledges EU FP7 & Wellcome Trust Institutional strategic support fund. Dr. Deloukas’s work forms part of the research themes contributing to the translational research portfolio of Barts Cardiovascular Biomedical Research Unit, which is supported and funded by the National Institute for Health Research (NIHR). Drs. Webb and Samani are funded by the British Heart Foundation, and Dr. Samani is an NIHR Senior Investigator. Dr. Masca was supported by the NIHR Leicester Cardiovascular Biomedical Research Unit (BRU), and this work forms part of the portfolio of research supported by the BRU. Dr. Won was supported by a postdoctoral award from the American Heart Association (15POST23280019). Dr. McCarthy is a Wellcome Trust Senior Investigator (098381) and an NIHR Senior Investigator. Dr. Danesh is a British Heart Foundation Professor, European Research Council Senior Investigator, and NIHR Senior Investigator. Drs. Erdmann, Webb, Samani, and Schunkert are supported by the FP7 European Union project CVgenes@ target (261123) and the Fondation Leducq (CADgenomics, 12CVD02). Drs. Erdmann and Schunkert are also supported by the German Federal Ministry of Education and Research e:Med program (e:AtheroSysMed and sysINFLAME), and Deutsche Forschungsgemeinschaft cluster of excellence “Inflammation at Interfaces” and SFB 1123. Dr. Kessler received a DZHK Rotation Grant. The analysis was funded, in part, by a Programme Grant from the BHF (RG/14/5/30893 to Dr. Deloukas). Additional funding is listed in the Supplementary Appendix.This is the author accepted manuscript. The final version is available from the Massachusetts Medical Society via http://dx.doi.org/10.1056/NEJMoa150765

    New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.

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    Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism

    New genetic loci link adipose and insulin biology to body fat distribution.

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    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

    SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

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    Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

    A first update on mapping the human genetic architecture of COVID-19

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    Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

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    Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways

    Incidence and characteristics of non-accidental burns in children: A systematic review

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    Introduction: The estimated incidence of non-accidental burns varies between 1–25% in children. Distinguishing non-accidental burns from accidental burns can be very complicated but is of utmost importance for prevention of future injuries. Several studies concerning non-accidental burns have been published, however a clear overview is lacking. Aim: To conduct a systematic review of the existing literature to identify the incidence and characteristics of burns due to intentional causes and neglect. Methods: The protocol of this systematic review was prospectively registered in an international database (PROSPERO, National Institute for Health Research, York, United Kingdom). We searched literature in electronic databases published from 1948 until July 2018 written in English, Dutch, German and French. Two researchers screened, selected and graded the included articles, using standard methodology. We included primary studies of confirmed non-accidental burns in children. We excluded literature reviews, case-reports and unpublished data. We extracted data regarding demographics, burn characteristics, Child Protective Services (CPS) referral information and parent/household characteristics. Results: 825 studies were screened, 17 were included. The incidence of non-accidental burns was pooled out of 10 studies and is 9.7%. Indicators raising a very high suspicion of intentional burns are deep partial thickness and full thickness burns, burns to the posterior trunk and burns caused by hot tap water. Indicators raising a high to moderate suspicion of an intentional cause are burns to buttocks, genital and legs, a younger age of the child, additional injuries such as cutaneous injuries/bruises and fractures. More commonly caused by accidents are burns to head, neck, anterior trunk, upper extremities and feet. Little data are available regarding burns as a result of neglect. Quality of studies was often low to moderate mostly due to a high heterogeneity. This review is mainly based on retrospective studies. Conclusion: From this review of the literature, the incidence of non-accidental burns in children was 9.7%. Indicators raising a very high suspicion of intentional burns are: location at the posterior trunk, deep partial thickness and full thickness burns and burns caused by hot tap water

    Paediatric femur fractures—the value of contextual information on judgement in possible child abuse cases: are we bias?

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    The majority of paediatric femur fractures result from accidental trauma; however, it is important to consider non-accidental trauma, especially in pre-ambulatory children. We study whether irrelevant contextual information subconsciously influences conclusions of healthcare professionals with respect to whether observations provide evidence for non-accidental trauma. A survey with nine radiographs of femur shaft fractures was designed. Two different clinical histories (vignettes) with contextual information were designed, non-abuse versus abuse context. One of both vignettes was randomly assigned to the radiograph shown to the participant, followed by a question with a 5-point answer scale, which represents a verbal expression of the likelihood ratio of the fracture regarding a non-accidental versus accidental cause. Participants were medical residents and staff members of different specialties from several Dutch hospitals. A total of 172 participants responded. The reported evidential strength of the vignettes with a non-abuse context was 0.19 (n = 784; 95%CI 0.10–0.28) and for the abuse context 0.94 (n = 764; 95%CI 0.86–1.02; p < 0.001). Women reported a stronger evidential strength than men, but both were influenced by context. Emergency department and paediatric doctors were more likely to decide that non-accidental trauma was the cause; paediatric radiologists were the least likely. Experience in years of practice and current function did not prevent participants from being bias. Conclusion: This study shows that the interpretation of medical results by healthcare professionals can be influenced by contextual information, such as low income and marital status, which are irrelevant to the decision as to whether abuse might have occurred. Given the same information about an injury, women, emergency department and paediatric doctors were more likely to decide that non-accidental trauma was the cause, while paediatric radiologists were least likely to decide this outcome. It is important to prevent contextual influence as much as possible, by recognizing it and implementing a management contextual information procedure.What is Known:• Contextual information is of possible influence on healthcare professionals in identifying non-accidental trauma.• Increased working experience is thought to be protective against this influence.What is New:• Contextual information influenced the interpretation of medical results by healthcare professionals regardless of work experience.• The interpretation of medical results by healthcare professionals is influenced by both affirmative and negative contextual information
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