124 research outputs found
Great War Dundee:featuring Ragtime soldier
This comic is part of the Great War Dundee (GWD) Hidden Histories project, which was made possible thanks to the generous support of The National Lottery Heritage Fund. It was developed by Professor Christopher Murray and Phillip Vaughan and tells the story of the effect of the Great War on Dundee, and its aftermath, and draws on many of the resources and knowledge that the GWD Partnership has introduced into the public domain over the last few years. The comic contains a story written by legendary comics creator Pat Mills, who worked at DC Thomson before creating the hugely successful British science fiction comic 2000AD (1977-present)
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling difficult and potentially hindering optimal treatment. Here, we describe the analysis of a 46,XY DSD patient that presented at birth with ambiguous genitalia. Histological analysis of the surgically removed gonads showed bilateral undifferentiated gonadal tissue and immature testis, both containing malignant germ cells. We screened genomic DNA from this patient for deletions and duplications using an Illumina whole-genome SNP microarray. This analysis revealed a heterozygous deletion within the WWOX gene on chromosome 16, removing exons 6-8. Analysis of parental DNA showed that the deletion was inherited from the mother. cDNA analysis confirmed that the deletion maintained the reading frame, with exon 5 being spliced directly onto exon 9. This deletion is the first description of a germline rearrangement affecting the coding sequence of WWOX in humans. Previously described Wwox knockout mouse models showed gonadal abnormalities, supporting a role for WWOX in human gonad development
Influence of electrode contact arrangements on Polarisation-Electric field measurements of ferroelectric ceramics: A case study of BaTiO3
A range of partial top full bottom electrodes are used to explore the use of bi-polar Polarisation-Electric field (P–E) measurements to quantify recoverable energy (W
rec), energy loss (W
loss) and the efficiency (η) of ferroelectric BaTiO3 ceramics. The values obtained are dependent on the ratio of sample thickness (S) and top contact radius (r). With increasing S/r from 0.17 to 1.96 the P–E responses become increasingly distorted and broader. Measurements show W
rec increases by a factor of ∼ 1.4 but W
loss increases by a factor of ∼7 with η decreasing from ∼ 29% to 8%. Finite element modelling was used to simulate the experimental set-up of the sample/electrode arrangements using the Jiles-Atherton model to replicate the ferroelectric behaviour of BaTiO3. These models demonstrate the experimentally applied electric field using a simple geometric correction for sample thickness is an underestimation of the actual field experienced by the material under the top contact at high S/r values. We stress the importance of reporting the contact sizes and thicknesses of samples when using P–E measurements to assess W
rec, W
loss and η in non-linear dielectric materials. This will allow a fairer comparison of performances between various types of materials being considered for high-energy-density ceramic capacitors
Specialization of amygdala subregions in emotion processing
The amygdala is important for human fear processing. However, recent research has failed to reveal specificity, with evidence that the amygdala also responds to other emotions. A more nuanced understanding of the amygdala's role in emotion processing, particularly relating to fear, is needed given the importance of effective emotional functioning for everyday function and mental health. We studied 86 healthy participants (44 females), aged 18–49 (mean 26.12 ± 6.6) years, who underwent multiband functional magnetic resonance imaging. We specifically examined the reactivity of four amygdala subregions (using regions of interest analysis) and related brain connectivity networks (using generalized psycho-physiological interaction) to fear, angry, and happy facial stimuli using an emotional face-matching task. All amygdala subregions responded to all stimuli (p-FDR <.05), with this reactivity strongly driven by the superficial and centromedial amygdala (p-FDR <.001). Yet amygdala subregions selectively showed strong functional connectivity with other occipitotemporal and inferior frontal brain regions with particular sensitivity to fear recognition and strongly driven by the basolateral amygdala (p-FDR <.05). These findings suggest that amygdala specialization to fear may not be reflected in its local activity but in its connectivity with other brain regions within a specific face-processing network
The Balloon-Borne Large Aperture Submillimeter Telescope Observatory
The BLAST Observatory is a proposed superpressure balloon-borne polarimeter
designed for a future ultra-long duration balloon campaign from Wanaka, New
Zealand. To maximize scientific output while staying within the stringent
superpressure weight envelope, BLAST will feature new 1.8m off-axis optical
system contained within a lightweight monocoque structure gondola. The payload
will incorporate a 300L He cryogenic receiver which will cool 8,274
microwave kinetic inductance detectors (MKIDs) to 100mK through the use of an
adiabatic demagnetization refrigerator (ADR) in combination with a He
sorption refrigerator all backed by a liquid helium pumped pot operating at 2K.
The detector readout utilizes a new Xilinx RFSOC-based system which will run
the next-generation of the BLAST-TNG KIDPy software. With this instrument we
aim to answer outstanding questions about dust dynamics as well as provide
community access to the polarized submillimeter sky made possible by
high-altitude observing unrestricted by atmospheric transmission. The BLAST
Observatory is designed for a minimum 31-day flight of which 70 will be
dedicated to observations for BLAST scientific goals and the remaining 30
will be open to proposals from the wider astronomical community through a
shared-risk proposals program.Comment: Presented at SPIE Ground-based and Airborne Telescopes VIII, December
13-18, 202
Characterization, deployment, and in-flight performance of the BLAST-TNG cryogenic receiver
The Next Generation Balloon-borne Large Aperture Submillimeter Telescope
(BLAST-TNG) is a submillimeter polarimeter designed to map interstellar dust
and galactic foregrounds at 250, 350, and 500 microns during a 24-day Antarctic
flight. The BLAST-TNG detector arrays are comprised of 918, 469, and 272 MKID
pixels, respectively. The pixels are formed from two orthogonally oriented,
crossed, linear-polarization sensitive MKID antennae. The arrays are cooled to
sub 300mK temperatures and stabilized via a closed cycle He sorption fridge
in combination with a He vacuum pot. The detectors are read out through a
combination of the second-generation Reconfigurable Open Architecture Computing
Hardware (ROACH2) and custom RF electronics designed for BLAST-TNG. The
firmware and software designed to readout and characterize these detectors was
built from scratch by the BLAST team around these detectors, and has been
adapted for use by other MKID instruments such as TolTEC and OLIMPO. We present
an overview of these systems as well as in-depth methodology of the
ground-based characterization and the measured in-flight performance.Comment: Presented at SPIE Millimeter, Submillimeter, and Far-Infrared
Detectors and Instrumentation for Astronomy X, December 13-18, 202
Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis
Disorders of sex development (DSD), ranging in severity from mild genital abnormalities to complete sex reversal, represent a major concern for patients and their families. DSD are often due to disruption of the genetic programs that regulate gonad development. Although some genes have been identified in these developmental pathways, the causative mutations have not been identified in more than 50% 46,XY DSD cases. We used the Affymetrix Genome-Wide Human SNP Array 6.0 to analyse copy number variation in 23 individuals with unexplained 46,XY DSD due to gonadal dysgenesis (GD). Here we describe three discrete changes in copy number that are the likely cause of the GD. Firstly, we identified a large duplication on the X chromosome that included DAX1 (NR0B1). Secondly, we identified a rearrangement that appears to affect a novel gonad-specific regulatory region in a known testis gene, SOX9. Surprisingly this patient lacked any signs of campomelic dysplasia, suggesting that the deletion affected expression of SOX9 only in the gonad. Functional analysis of potential SRY binding sites within this deleted region identified five putative enhancers, suggesting that sequences additional to the known SRY-binding TES enhancer influence human testis-specific SOX9 expression. Thirdly, we identified a small deletion immediately downstream of GATA4, supporting a role for GATA4 in gonad development in humans. These CNV analyses give new insights into the pathways involved in human gonad development and dysfunction, and suggest that rearrangements of non-coding sequences disturbing gene regulation may account for significant proportion of DSD cases
Community Engagement newsletter, Faculty of Veterinary Science, Spring, November 2018
Biting back against rabies / Ananthan Daylene, Luthaar Naidoo, Shanzelle RabÄ—,
Heiko Schmid & Laryssa Straub -- My Hluvukani experience / Emca du Plessis & Dr Luke Arnot , photographs by Dr Luke Arnot -- Adventures with Elephants: getting clued up on conservation / Kira Coetzee, Simone Brown, Bruna Silva, Alexandra
Graham & Rofhiwa Ramavhoya -- Conquering the unconquered - healing animals while spreading love / Kgopotso Mabote -- A hidden treasure / Regan van Welie, Lauren Wakefield, Ingo Meyer, Stephen Hodgson & Daniella van der Have -- Bajabulile: the happy place / Kevasha Govender, Erin Sinclair & Sabelisiwe Mpanza ; photography by: Laura SimpkinsNews articles with colour photos about the various community engagement projects of the Faculty of Veterinary Science, University of Pretoria.ab201
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