Racial Injustice in Astrid Lindgren’s Kati in America

This article addresses Astrid Lindgren’s Kati in America, which was written in 1950 and translated into English in 1964. The novel reflects Lindgren’s impressions of the United States, where she traveled in 1948 on assignment for the publishing house Åhland and Åkerlund. By chance, the author of this article discovered that there is a fifteenth chapter of the book in the Russian, Polish, French, Spanish, and German translations, but which is missing in the English. This missing chapter describes the racism Lindgren’s protagonist witnesses during her visit to New Orleans. Astrid Lindgren’s depiction of racial injustice in the South is especially relevant in the current era, when the subject of race is so prominent in the national conversation. In light of this fact, it is more important than ever that a new, complete English translation of Kati in America be published, one that reflects the racial injustice to which Astrid Lindgren sought to call her readers’ attention in Chapter 15

User Satisfaction with Electronic Reference: A Systematic REview

Purpose – The paper aims to systematically review research that analyzes satisfaction with electronic reference services, paying particular attention to how user satisfaction is measured. The application and value of evidence‐based methodologies for library and information science (LIS) research are explored. Design/methodology/approach – Database searches identified research concerned with electronic reference. Articles with a variable of user satisfaction were extracted and subjected to a critical appraisal. The remaining research was analyzed for similarities, differences, and consistency. Findings – A wide variety of methods are used to measure user satisfaction. There was almost no overlap in specific questions considered although there were some similarities in methodologies used. The results of this analysis show a lack of standardization in LIS research on this topic. Research limitations/implications – There may be some bias in the selection of research in that the reviewers were only able to obtain published findings. The lack of consistency in reporting results further limited the articles eligible for review and precluded a meta‐analysis. Practical implications – By synthesizing the research conducted on this topic, practicing librarians should be able to see patterns in user satisfaction with electronic reference, and become aware of common pitfalls in undertaking user satisfaction assessment. Those conducting or planning LIS research will be able to identify the characteristics of sound research and thorough reporting of results. Originality/value – Systematic review is an underutilized methodology in LIS research. As evidence‐based librarianship gains traction, it will become a more important tool for LIS researchers. The synthesis and analysis of previous research bring together disparate findings and show patterns and/or differences in providing these services, and brings into focus the lack of consistency in LIS research on this topic

Prevalence and architecture of de novo mutations in developmental disorders.

The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

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)

Predictors of Student\u27s Attitudes Toward Science Literacy

Being information and science literate are crucial in an age when scientific developments influence the political arena and vice versa. In order to become active and responsible citizens, students must understand such issues as global warming and stem cell research. Furthermore, they must be lifelong learners, capable of researching and educating themselves about new scientific developments. These are some of the complex issues that information literacy educators must address. This article reports on the results of a survey of student\u27s attitudes towards science literacy and lifelong learning, and on variables associated with their attitudes. Most of the students\u27 attitudes were positive, especially those who majored in one of the science disciplines

Predictors of Student's Attitudes Toward Science Literacy

Being information and science literate are crucial in an age when scientific developments influence the political arena and vice versa. In order to become active and responsible citizens, students must understand such issues as global warming and stem cell research. Furthermore, they must be lifelong learners, capable of researching and educating themselves about new scientific developments. These are some of the complex issues that information literacy educators must address. This article reports on the results of a survey of student's attitudes towards science literacy and lifelong learning, and on variables associated with their attitudes. Most of the students' attitudes were positive, especially those who majored in one of the science disciplines

The Information LIteracy User\u27s Guide: An Open Online Textbook

Good researchers have a host of tools at their disposal that make navigating today’s complex information ecosystem much more manageable. Gaining the knowledge, abilities, and self-reflection necessary to be a good researcher helps not only in academic settings, but is invaluable in any career, and throughout one’s life. The Information Literacy User’s Guide will start you on this route to success. The Information Literacy User’s Guide is based on two current models in information literacy: The 2011 version of The Seven Pillars Model, developed by the Society of College, National and University Libraries in the United Kingdom and the conception of information literacy as a metaliteracy, a model developed by one of this book’s authors in conjunction with Thomas Mackey, Dean of the Center for Distance Learning at SUNY Empire State College. These core foundations ensure that the material will be relevant to today’s students. The Information Literacy User’s Guide introduces students to critical concepts of information literacy as defined for the information-infused and technology-rich environment in which they find themselves. This book helps students examine their roles as information creators and sharers and enables them to more effectively deploy related skills. This textbook includes relatable case studies and scenarios, many hands-on exercises, and interactive quizzes