#AllCatsAreBeautiful: Ambient affiliation and the visual-verbal representation and appreciation of cats in online subversive discourses

This paper investigates the topics and affiliations associated with the hashtag #AllCatsAreBeautiful on the social media platform Twitter. Drawing on concepts from social semiotics (systemic functional theory) and critical animal studies, the paper identifies a number of potentially overlapping topics or fields, including anti-policing, the commodification of nonhuman animals, gender and sexism, and body image or body-shaming, as well as a more general positive appreciation or admiration of cats. The paper discusses how people position themselves in relation to those topics, through patterns of ideational and attitudinal meanings, and how cats are represented and appreciated visually, verbally and intersemiotically. Cats, in this context, play an important role in struggles for social justice, symbolizing freedom and resistance as well as love and solidarity. #AllCatsAreBeautiful highlights topics or spaces around which bonds can be made and communities of shared values or interests can be co-constructed.publishedVersio

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

Multi-messenger observations of a binary neutron star merger

On 2017 August 17 a binary neutron star coalescence candidate (later designated GW170817) with merger time 12:41:04 UTC was observed through gravitational waves by the Advanced LIGO and Advanced Virgo detectors. The Fermi Gamma-ray Burst Monitor independently detected a gamma-ray burst (GRB 170817A) with a time delay of ~1.7 s with respect to the merger time. From the gravitational-wave signal, the source was initially localized to a sky region of 31 deg2 at a luminosity distance of 40+8-8 Mpc and with component masses consistent with neutron stars. The component masses were later measured to be in the range 0.86 to 2.26 Mo. An extensive observing campaign was launched across the electromagnetic spectrum leading to the discovery of a bright optical transient (SSS17a, now with the IAU identification of AT 2017gfo) in NGC 4993 (at ~40 Mpc) less than 11 hours after the merger by the One- Meter, Two Hemisphere (1M2H) team using the 1 m Swope Telescope. The optical transient was independently detected by multiple teams within an hour. Subsequent observations targeted the object and its environment. Early ultraviolet observations revealed a blue transient that faded within 48 hours. Optical and infrared observations showed a redward evolution over ~10 days. Following early non-detections, X-ray and radio emission were discovered at the transient’s position ~9 and ~16 days, respectively, after the merger. Both the X-ray and radio emission likely arise from a physical process that is distinct from the one that generates the UV/optical/near-infrared emission. No ultra-high-energy gamma-rays and no neutrino candidates consistent with the source were found in follow-up searches. These observations support the hypothesis that GW170817 was produced by the merger of two neutron stars in NGC4993 followed by a short gamma-ray burst (GRB 170817A) and a kilonova/macronova powered by the radioactive decay of r-process nuclei synthesized in the ejecta

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)

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

Engagement in Medical Research Discourse: A Multisemiotic Discourse-Semantic Study of Dialogic Positioning

This study investigates how medical researchers engage with a background of prior and anticipated utterances in a collection of highly cited English-language medical research articles. Taking a multisemiotic, systemic-functional approach, I examine the verbal, visual, and mathematical resources used by medical research writers to construe, engage with, and position themselves in relation to a dialogic background of different voices, positions, and propositions. I explore the dialogic functions of those resources and how they are integrated or combined. I also consider how those resources are distributed across different parts of the medical research article and to what extent their use might reflect some of the disciplinary practices of medical research. The study shows that engagement can be realized by a broad and diverse set of verbal, mathematical, and visual resources. Verbal modality, projection, and concession, visual prominence and depiction-style, and mathematical probability, approximation, and prediction combine to construe a dialogic space that, on the whole, is more ‘heteroglossic’ than ‘monoglossic’ (i.e. multi- or other-voiced rather than single-voiced) and more dialogically ‘expansive’ than ‘contractive’; that is, it opens up rather than closes down the dialogic space for alternative positions and propositions in the discourse. From a genre perspective, engagement resources have different distributions across the various stages and phases of the medical research article, which tend to construe a dialogically ‘expansive’ Introduction and Discussion and a dialogically ‘contractive’ Methods and Results, although there is considerable variation across generic stages and phases and among individual research articles. The intersemiotic analysis shows how verbal, visual, and mathematical engagement resources are generally integrated to complement and reinforce the meanings construed by each semiotic. Less commonly, they diverge or they combine to make meanings that are not explicitly carried by any one semiotic, creating moments of potential dialogic tension. These changing dialogic spaces are crucial to building and maintaining alliances with the reader. They are also part of what makes the medical research article a hybrid text, one that, from a disciplinary perspective, construes varying writer–reader relations and knowledge structures (e.g. hard–soft, regional–singular, hierarchic–horizontal) as the text unfolds. The implications of this study are three-fold. Firstly, the study contributes to theoretical developments in the fields of social semiotics, systemic functional theory, and discourse analysis more generally. Secondly, it contributes to the growing body of discourse- and corpus-analytic studies of medicine and medical research discourse. Thirdly, the findings may have practical applications in academic literacy programmes

Engagement in Medical Research Discourse

"This book integrates insights from dialogic theory and systemic functional linguistics (SFL) to extend our understandings of engagement in medical research articles, going beyond notions of the role of verbal dialogue to encompass mathematical and visual semiotics and consider text not just as language but as multisemiosis. The volume begins by outlining the engagement framework and offering a brief overview of historical developments in medical research discourse. This discussion culminates in the introduction of the corpus used for analysis, drawing on original research articles from key medical journals to explore verbal, mathematical, and visual engagement in turn. A subsequent chapter brings these perspectives together to demonstrate intersemiotic engagement across different stages and phases of the medical research article and how such resources work together to construe and maintain the authoritative position commonly associated with medical discourse. The book looks ahead to engagement in other related disciplinary fields and future directions for work on multisemiosis and medical research discourse more generally. This book will be of particular interest to graduate students and researchers in multimodality, critical discourse analysis, applied linguistics, SFL, and science education.

Grieg in the Henhouse: 12 Seconds at the Contested Intersections of Human and Nonhuman Animal Interests.

Opening shot: interior, henhouse, low light, hens, two rows of perches and nest boxes. Voiceover, subtitle: ‘That’s why we play music’. Close-up of human hand flicking switch and turning dial on old radio. Cue music: Edvard Grieg’s ‘Morning Mood’. Close-up of hens. Wider frame, man walks slowly between perches and nest boxes. Voiceover, subtitle: ‘They become calm. They enjoy themselves.’ Close-up of single hen shaking feathers. Low-angle shot, hens, man by open door, daylight. Man speaks, subtitle: ‘Ba-pa-pa-pa!’ Fade to black. Caption, white on black, top of frame: ‘GOOD TASTE WITH A CLEAR CONSCIENCE.’ [Producer name], white on black, middle. Green logo, ‘organic’, lower right. Ends.publishedVersio

Love and Mutual Aid in the Time of Corona

[cite] With the growth and increasing visibility of mutual aid during the coronavirus pandemic, Daniel Lees Fryer looks at how mutual aid groups and the individuals involved in them are represented in the media. Amidst the chaos and tragedy of the coronavirus, one of the things that has impressed me most has been the emergence and response of mutual aid groups and networks. For those not familiar with the concept, mutual aid is basically about people getting together to help each other..

Multidimensional genre-based discourse analysis of a corpus of English-language medical research articles

Genre analysis studies concerning the medical research article are limited, and the few studies that do exist tend to focus exclusively on the textual aspects of the genre, with little consideration for the context and discourse community in which texts are produced. The objective of this study is thus: 1) to analyze and describe the genre of the medical research article by emphasizing the written medical discourse (text) and the activity of medical research (context); 2) to compare study findings with those in the literature; 3) to investigate possible changes in the genre over time; and 4) to examine the potential pedagogic implications of genre research. A multidimensional model is developed based on elements of register and genre analysis as well as on an examination of the medical discourse community. This model is applied to a study corpus comprising 17 medical research articles published between 2004 and 2006, selected from the British Medical Journal, the Journal of the American Medical Association, the Lancet, and the New England Journal of Medicine. Ten rhetorical moves comprising a total of 28 steps are identified, and a series of within- and cross-section patterns are observed for specific lexicogrammatical features. Comparison with the literature shows that there is variation between studies of the same genre, which may be explained by a number of variables including the choice of study material, the methodology, the anticipated audience, and potential changes in generic structure. Genre as a descriptive framework for understanding and producing text appears to be a valuable pedagogic tool, provided students are made aware of the potential pitfalls of following such guidelines. Key words: text, discourse, genre, register, discourse community, medical research article, systemic-functional linguistic