Introduction: Williams syndrome: A model for the neuroconstructivist approach

This introductory chapter first sets out the purpose of the book, which is to serve as a paradigm for multidisciplinary, neuroconstructivist approaches to a wide range of other syndromes, taking the neurodevelopmental disorder Williams syndrome (WS) as a model syndrome. It then discusses the neuroconstructivist approach to neurodevelopmental disorders. An overview of the subsequent chapters is also presented

Significant familial differences in the frequency of abortion and Toxoplasma gondii infection within a flock of Charollais sheep

A study was carried out to investigate the frequencies of abortion and congenital Toxoplasma gondii infection within 27 families (765 individuals) of a pedigree Charollais sheep flock maintained on a working farm in Worcestershire, UK, since 1992. Pedigree lambing records were analysed to establish the frequency of abortion for each family. The frequency of congenital infection was determined for each family by PCR analysis of tissue samples taken from newborn lambs. Atotal of 155 lambs were tested for congenital T. gondii infection, which were all born during the study period 2000–2003. Significant differences in the frequency of abortion between sheep families within this flock were observed with frequencies ranging between 0% and 48% (P<0.01). Significantly different infection frequencies with T. gondii were also observed for different families and ranged between 0% and 100% (P<0.01). Although the actual cause of each abortion was not verified, a highly significant positive correlation was found to exist between the frequency of abortion and the frequency of T. gondii infection in the same families (P<0.01). The data presented here raise further questions regarding the significance of congenital transmission of T. gondii within sheep populations, the possible successive vertical transmission of T. gondii within families of sheep, and the potential role of inherited genetic susceptibility to abortion with respect to T. gondii infection. This work invites further study into the epidemiology of ovine toxoplasmosis and may have implications for sheep husbandry methods in the future. Key words: Toxoplasma gondii, ovine, toxoplasmosis, congenital, transmission, pedigree, sheep

High levels of congenital transmission of toxoplasma gondii in longitudinal and cross-sectional studies on sheep farms provides evidence of vertical transmission in ovine hosts

Recent research suggests that vertical transmission may play an important role in sustaining Toxoplasma gondii infection in some species. We report here that congenital transmission occurs at consistently high levels in pedigree Charollais and outbred sheep flocks sampled over a 3-year period. Overall rates of transmission per pregnancy determined by PCR based diagnosis, were consistent over time in a commercial sheep flock (69%) and in sympatric (60%) and allopatric (41%) populations of Charollais sheep. The result of this was that 53·7% of lambs were acquiring an infection prior to birth: 46·4% of live lambs and 90·0% of dead lambs (in agreement with the association made between T. gondii and abortion). No significant differences were observed between lamb sexes. Although we cannot distinguish between congenital transmission occurring due to primary infection at pregnancy or reactivation of chronic infection during pregnancy, our observations of consistently high levels of congenital transmission over successive lambings favour the latter

The prevalence of Neospora caninum and co-infection with Toxoplasma gondii by PCR analysis in naturally occurring mammal populations

Neospora caninum and Toxoplasma gondii are closely related intracellular protozoan parasites associated with bovine and ovine abortion respectively. Little is known about the extent of Neospora/Toxoplasma co-infection in naturally infected populations of animals. Using nested PCR techniques, based on primers from the Nc5 region of N. caninum and SAG1 for T. gondii, the prevalence of N. caninum and its co-infection with T. gondii were investigated in populations of Mus domesticus, Rattus norvegicus and aborted lambs (Ovis aries). A low frequency of infection with N. caninum was detected in the Mus domesticus (3%) and Rattus norvegicus (4·4%) populations. A relatively high frequency of infection with N. caninum was detected in the brains of aborted lambs (18·9%). There was no significant relationship between N. caninum and T. gondii co-infection. Investigation of the tissue distribution of Neospora, in aborted lambs, showed that Neospora could not be detected in tissues other than brain and this was in contrast to Toxoplasma where the parasite could be frequently detected in a range of tissues

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

Background Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. Methods We report on visuospatial cognition in two individuals with contrasting partial deletions in the WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted. Results Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB’s atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion. Conclusions Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed

Comparison of alternative approaches for analysing multi-level RNA-seq data

RNA sequencing (RNA-seq) is widely used for RNA quantification in the environmental, biological and medical sciences. It enables the description of genome-wide patterns of expression and the identification of regulatory interactions and networks. The aim of RNA-seq data analyses is to achieve rigorous quantification of genes/transcripts to allow a reliable prediction of differential expression (DE), despite variation in levels of noise and inherent biases in sequencing data. This can be especially challenging for datasets in which gene expression differences are subtle, as in the behavioural transcriptomics test dataset from D. melanogaster that we used here. We investigated the power of existing approaches for quality checking mRNA-seq data and explored additional, quantitative quality checks. To accommodate nested, multi-level experimental designs, we incorporated sample layout into our analyses. We employed a subsampling without replacement-based normalization and an identification of DE that accounted for the hierarchy and amplitude of effect sizes within samples, then evaluated the resulting differential expression call in comparison to existing approaches. In a final step to test for broader applicability, we applied our approaches to a published set of H. sapiens mRNA-seq samples, The dataset-tailored methods improved sample comparability and delivered a robust prediction of subtle gene expression changes. The proposed approaches have the potential to improve key steps in the analysis of RNA-seq data by incorporating the structure and characteristics of biological experiments

Online University Teaching at the time of COVID-19 (2020): An Australian Perspective

The impacts of COVID-19 have been widespread, and the education sector has not been immune to its effects. In March 2020 Australian universities were forced into a shutdown, which prompted an unanticipated, sudden shift in education, from on-campus and face-to-face to an off-campus and online mode of teaching and learning. This paper describes the experiences of two Sydney-based university unit coordinators, from two different institutions, who rapidly shifted their units online as a result of COVID-19. In particular, it applies reflection as a research method, to share what the authors’ encountered as successful, and what was challenging about teaching online. Motivating and retaining students was a key challenge identified by the authors. Therefore, the paper discusses the authors’ application of various digital programs and tools in their response to this challenge of motivation and engagement. It is hoped that our experiences might benefit those looking to integrate programs and tools in the online teaching and learning space. Although Australia is currently one of the most successful countries in their handling of COVID-19, there is still great uncertainty about the future. Globally the pandemic shows no signs of abating, as many countries struggle to manage high levels of transmission and infection rates, which in turn have an impact on the education sector more broadly. Consequently, online learning may be the ‘new normal’ for many institutions in the near future. Therefore, it is important for educators to share their online teaching experiences that can contribute to greater understandings of this space.</jats:p

Eggs of British Meniscus midges (diptera;dixidae) observed by scanning electron microscopy

The egg of Dixella martinii is described for the first time. The eggs of the Dixidae are placed in three morphological groups: bulbous and meshed; streamlined and smooth; streamlined and minutely spiculated. Ten of the fourteen species known from Britain are placed in these groups. After a detailed description of the egg of D. martinii, the three morphological groups are described and scanning electron micrographs are provided

The iconographic brain: a critical philosophical inquiry into (the resistance of) the image

The brain image plays a central role in contemporary image culture and, in turn, (co)constructs contemporary forms of subjectivity. The central aim of this paper is to probe the unmistakably potent interpellative power of brain images by delving into the power of imaging and the power of the image itself. This is not without relevance for the neurosciences, inasmuch as these do not take place in a vacuum; hence the importance of inquiring into the status of the image within scientific culture and science itself. I will mount a critical philosophical investigation of the brain qua image, focusing on the issue of mapping the mental onto the brain and how, in turn, the brain image plays a pivotal role in processes of subjectivation. Hereto, I draw upon Science & Technology Studies, juxtaposed with culture and ideology critique and theories of image culture. The first section sets out from Althusser's concept of interpellation, linking ideology to subjectivity. Doing so allows to spell out the central question of the paper: what could serve as the basis for a critical approach, or, where can a locus of resistance be found? In the second section, drawing predominantly on Baudrillard, I delve into the dimension of virtuality as this is opened up by brain image culture. This leads to the question of whether the digital brain must be opposed to old analog psychology: is it the psyche which resists? This issue is taken up in the third section which, ultimately, concludes that the psychological is not the requisite locus of resistance. The fourth section proceeds to delineate how the brain image is constructed from what I call the data-gaze (the claim that brain data are always already visual). In the final section, I discuss how an engagement with theories of iconology affords a critical understanding of the interpellative force of the brain image, which culminates in the somewhat unexpected claim that the sought after resistance lies in the very status of the image itself