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We examine the optical counterparts of the 1829 neutral hydrogen (H I) detections in three pilot fields in the Widefield ASKAP L-band Legacy All-sky Blind surveY (WALLABY) using data from the Dark Energy Spectroscopic Instrument (DESI) Legacy Imaging Surveys DR10. We find that 17 per cent (315) of the detections are optically low surface brightness galaxies (LSBGs; mean g-band surface brightness within 1 Re of > 23 mag arcsec−2) and 3 per cent (55) are optically ‘dark’. We find that the gas-rich WALLABY LSBGs have low star formation efficiencies, and have stellar masses spanning five orders of magnitude, which highlights the diversity of properties across our sample. 75 per cent of the LSBGs and all of the dark H I sources had not been catalogued prior to WALLABY. We examine the optically dark sample of the WALLABY pilot survey to verify the fidelity of the catalogue and investigate the implications for the full survey for identifying dark H I sources. We assess the H I detections without optical counterparts and identify 38 which pass further reliability tests. Of these, we find that 13 show signatures of tidal interactions. The remaining 25 detections have no obvious tidal origin, so are candidates for isolated galaxies with high H I masses, but low stellar masses and star-formation rates. Deeper H I and optical follow-up observations are required to verify the true nature of these dark sources.
Transcranial direct current stimulation (tDCS) is a promising treatment for major depressive disorder (MDD). This study evaluated its antidepressant and cognitive effects as a safe, effective, home-based therapy for MDD.
Methods
This double-blind, sham-controlled, randomized trial divided participants into low-intensity (1 mA, n = 47), high-intensity (2 mA, n = 49), and sham (n = 45) groups, receiving 42 daily tDCS sessions, including weekends and holidays, targeting the dorsolateral prefrontal cortex for 30 minutes. Assessments were conducted at baseline and weeks 2, 4, and 6. The primary outcome was cognitive improvement assessed by changes in total accuracy on the 2-back test from baseline to week 6. Secondary outcomes included changes in depressive symptoms (HAM-D), anxiety (HAM-A), and quality of life (QLES). Adverse events were monitored. This trial was registered with ClinicalTrials.gov (NCT04709952).
Results
In the tDCS study, of 141 participants (102 [72.3%] women; mean age 35.7 years, standard deviation 12.7), 95 completed the trial. Mean changes in the total accuracy scores from baseline to week 6 were compared across the three groups using an F-test. Linear mixed-effects models examined the interaction of group and time. Results showed no significant differences among groups in cognitive or depressive outcomes at week 6. Active groups experienced more mild adverse events compared to sham but had similar rates of severe adverse events and dropout.
Conclusions
Home-based tDCS for MDD demonstrated no evidence of effectiveness but was safe and well-tolerated. Further research is needed to address the technical limitations, evaluate broader cognitive functions, and extend durations to evaluate its therapeutic potential.
We present the Pilot Survey Phase 2 data release for the Wide-field ASKAP L-band Legacy All-sky Blind surveY (WALLABY), carried-out using the Australian SKA Pathfinder (ASKAP). We present 1760 H i detections (with a default spatial resolution of 30′′) from three pilot fields including the NGC 5044 and NGC 4808 groups as well as the Vela field, covering a total of $\sim 180$ deg$^2$ of the sky and spanning a redshift up to $z \simeq 0.09$. This release also includes kinematic models for over 126 spatially resolved galaxies. The observed median rms noise in the image cubes is 1.7 mJy per 30′′ beam and 18.5 kHz channel. This corresponds to a 5$\sigma$ H i column density sensitivity of $\sim 9.1\times10^{19}(1 + z)^4$ cm$^{-2}$ per 30′′ beam and $\sim 20$ km s$^{-1}$ channel and a 5$\sigma$ H i mass sensitivity of $\sim 5.5\times10^8 (D/100$ Mpc)$^{2}$ M$_{\odot}$ for point sources. Furthermore, we also present for the first time 12′′ high-resolution images (“cut-outs”) and catalogues for a sub-sample of 80 sources from the Pilot Survey Phase 2 fields. While we are able to recover sources with lower signal-to-noise ratio compared to sources in the Public Data Release 1, we do note that some data quality issues still persist, notably, flux discrepancies that are linked to the impact of side lobes associated with the dirty beams due to inadequate deconvolution. However, in spite of these limitations, the WALLABY Pilot Survey Phase 2 has already produced roughly a third of the number of HIPASS sources, making this the largest spatially resolved H i sample from a single survey to date.
Majority of international guidelines for bipolar disorders are based on evidences from clinical trials. In contrast, the Korean Medication Algorithm Project for Bipolar Disorder (KMAP-BP) was developed to adopt an expert-consensus paradigm which was more practical and specific to the atmosphere in Korea.
Objectives
In this study, preferred medication strategies for acute mania over six consecutively published KMAP-BP (2002, 2006, 2010, 2014, 2018, and 2022) were investigated.
Methods
A written survey using a nine-point scale was asked to Korean experts about the appropriateness of various treatment strategies and treatment agents. A written survey asked about the appropriateness of various treatment strategies and treatment agents commonly used by clinicians as the first-line.
Results
The most preferred option for the initial treatment of mania was a combination of a mood stabilizer (MS) and an atypical antipsychotic (AAP) in every edition. Preference for combined treatment for euphoric mania increased, peaked in KMAP-BP 2010, and declined slightly. Either MS or AAP monotherapy was also considered a first-line strategy for mania, but not for all types of episodes, including mixed/psychotic mania. Among MSs, lithium and valproate are almost equally preferred except in the mixed subtype where valproate is the most recommended MS. The preference of valproate showed reverse U-shaped curve. This preference change of valproate may indicate the concern about teratotoxicity in women. Quetiapine, aripiprazole, and olanzapine were the preferred AAP for acute mania since 2014. This change might depend on the recent evidences and safety profile. In cases of unsatisfactory response to initial medications, switching or adding another first-line agent was recommended. The most notable changes over time included the increasing preference for AAPs.
Conclusions
The Korean experts have been increasingly convinced of the effectiveness of a combination therapy for acute mania. There have been evident preference changes: increased for AAP and decreased for carbamazepine.
OBJECTIVES/GOALS: To demonstrate a successful example of clinical and translational research at a busy veterinary teaching hospital and highlight a collaborative effort in Comparative Oncology between the University of Florida’s (UF) Colleges of Medicine and Veterinary Medicine. METHODS/STUDY POPULATION: The UF College of Veterinary Medicine (CVM) is a full-time teaching hospital with multiple departments actively recruiting patients for clinical trials. These departments include but are not limited to Oncology, Internal Medicine, Dermatology, Cardiology, and Emergency and Critical Care. The Oncology department collaborates with the doctors at the UF Health Cancer Center (UFHCC) as part of a Comparative Oncology Initiative, which has many ongoing canine and feline trials focusing on immunotherapy. RESULTS/ANTICIPATED RESULTS: As of August 2023, there are 60 clinical trials actively recruiting and enrolling patients at the UF CVM. 57% of these trials are interventional studies, while the other 43% are observational studies. The UFHCC Comparative Oncology Initiative has successfully completed one clinical trial focusing on canine gliomas; has 4 clinical trials that are actively recruiting patients, and 6 trials that are opening for enrollment in the near future. These studies focus on osteosarcoma, melanoma, and squamous cell carcinoma. It is anticipated that with continued successful collaborations, more clinical trials will be possible, and new treatment options will become available for not only veterinary patients but human patients as well. DISCUSSION/SIGNIFICANCE: Clinical and translational research is an important part of veterinary medicine to further patient care. Due to ongoing collaborative efforts, not only veterinary patients but also human patients will benefit from the research being conducted at the UF CVM.
People with schizophrenia on average are more socially isolated, lonelier, have more social cognitive impairment, and are less socially motivated than healthy individuals. People with bipolar disorder also have social isolation, though typically less than that seen in schizophrenia. We aimed to disentangle whether the social cognitive and social motivation impairments observed in schizophrenia are a specific feature of the clinical condition v. social isolation generally.
Methods
We compared four groups (clinically stable patients with schizophrenia or bipolar disorder, individuals drawn from the community with self-described social isolation, and a socially connected community control group) on loneliness, social cognition, and approach and avoidance social motivation.
Results
Individuals with schizophrenia (n = 72) showed intermediate levels of social isolation, loneliness, and social approach motivation between the isolated (n = 96) and connected control (n = 55) groups. However, they showed significant deficits in social cognition compared to both community groups. Individuals with bipolar disorder (n = 48) were intermediate between isolated and control groups for loneliness and social approach. They did not show deficits on social cognition tasks. Both clinical groups had higher social avoidance than both community groups
Conclusions
The results suggest that social cognitive deficits in schizophrenia, and high social avoidance motivation in both schizophrenia and bipolar disorder, are distinct features of the clinical conditions and not byproducts of social isolation. In contrast, differences between clinical and control groups on levels of loneliness and social approach motivation were congruent with the groups' degree of social isolation.
The Eighth World Congress of Pediatric Cardiology and Cardiac Surgery (WCPCCS) will be held in Washington DC, USA, from Saturday, 26 August, 2023 to Friday, 1 September, 2023, inclusive. The Eighth World Congress of Pediatric Cardiology and Cardiac Surgery will be the largest and most comprehensive scientific meeting dedicated to paediatric and congenital cardiac care ever held. At the time of the writing of this manuscript, The Eighth World Congress of Pediatric Cardiology and Cardiac Surgery has 5,037 registered attendees (and rising) from 117 countries, a truly diverse and international faculty of over 925 individuals from 89 countries, over 2,000 individual abstracts and poster presenters from 101 countries, and a Best Abstract Competition featuring 153 oral abstracts from 34 countries. For information about the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery, please visit the following website: [www.WCPCCS2023.org]. The purpose of this manuscript is to review the activities related to global health and advocacy that will occur at the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery.
Acknowledging the need for urgent change, we wanted to take the opportunity to bring a common voice to the global community and issue the Washington DC WCPCCS Call to Action on Addressing the Global Burden of Pediatric and Congenital Heart Diseases. A copy of this Washington DC WCPCCS Call to Action is provided in the Appendix of this manuscript. This Washington DC WCPCCS Call to Action is an initiative aimed at increasing awareness of the global burden, promoting the development of sustainable care systems, and improving access to high quality and equitable healthcare for children with heart disease as well as adults with congenital heart disease worldwide.
Three-dimensional chromatin interactions regulate gene expressions. The significance of de novo mutations (DNMs) in chromatin interactions remains poorly understood for autism spectrum disorder (ASD).
Objectives
To investigate the genomic architecture of ASD in terms of non-coding de novo mutations and 3-dimensional chromatin interactions
Methods
We generated 813 whole-genome sequences from 242 Korean simplex families to detect DNMs, and identified target genes which were putatively affected by non-coding DNMs in chromatin interactions.
Results
Non-coding DNMs in chromatin interactions were significantly involved in transcriptional dysregulations related to ASD risk. Correspondingly, target genes showed spatiotemporal expressions relevant to ASD in developing brains and enrichment in biological pathways implicated in ASD, such as histone modification. Regarding clinical features of ASD, non-coding DNMs in chromatin interactions particularly contributed to low intelligence quotient levels in ASD probands. We further validated our findings using two replication cohorts, Simons Simplex Collection (SSC) and MSSNG, and showed the consistent enrichment of non-coding DNM-disrupted chromatin interactions in ASD probands. Generating human induced pluripotent stem cells in two ASD families, we were able to demonstrate that non-coding DNMs in chromatin interactions alter the expression of target genes at the stage of early neural development.
Conclusions
Taken together, our findings indicate that non-coding DNMs in ASD probands lead to early neurodevelopmental disruption implicated in ASD risk via chromatin interactions.
Nurses are at an increased risk for work-related stress resulting in post-traumatic stress disorder (PTSD). They are susceptible due to frequent exposure to traumatic situations providing care for patients.
Objectives
The purpose of this systematic review is to comprehensively review the content and characteristics of intervention programs for reducing the post-traumatic stress of nurses or nursing students, providing a basis for developing a standardized protocol for programs to promote the integrated health of nurses and protect them from stress events in clinical environments.
Methods
This is a systematic review. Participants (P) targeted nurses or nursing students; Intervention (I) included intervention programs for reducing post-traumatic stress; Comparison (C) was control groups provided with usual or no interventions ; and Outcomes (O) referred to changes in physical or emotional reactions toward post-traumatic stress. Two researchers searched four databases including PubMed, CINAHL, PsycINFO, and EMBASE with keywords such as “nurse,” “post-trumatic stress disorder,” “program,” and “intervention”. A total of 7,523 studies were searched and 10 studies were included for final analysis (Image 1). The Risk of Bias2 (Image 2) and the Risk of Bias for Non-randomized Study I (Image 3) were used to evaluate the quality the included studies.
Results
The number of studies is increasing, with four studies published before 2020, and six studies published since, of which three in 2022. Definitions of trauma situations to which nurses are exposed included diverse elements such as patient death, workplace violence, the COVID-19 pandemic, and complex trauma experiences due to working environments. Most studies have provided multiple intervention sessions, which is appropriate considering the characteristics of PTSD. Most studies examined the secondary effects on mental health such as anxiety, depression, and burnout caused by stress rather than evaluating stress itself. The quality of the study was generally highly biased. The risk of bias increased for the two randomized controlled trials in terms of measurement outcomes and outcome description. The other eight non-randomized studies all included a self-reporting questionnaire of participants, leading to a risk of bias in terms of measurement outcomes.
Image:
Image 2:
Image 3:
Conclusions
Studies have been conducted to confirm the effectiveness of interventions given heightened concerns about PTSD in nurses. However, the concept of the trauma experienced by nurses was not integrally defined, and information on interventions was often limited. Efforts are required to improve the quality of research in terms of experimental study design.
Lamina-specific alterations of inhibitory circuitries have been considered the crucial pathogenesis of perceptual, cognitive and behavioral symptoms presented in schizophrenia and mood disorders. Especially, with emerging evidences indicating the close lamina-specific relationship between synaptic defects and γ-Aminobutyric acid (GABA)-related gene dysfunctions, it has been suggested the mRNA dysregulations of Tyrosine kinase B (TrkB) and Glutamate decarboxylase 67 (GAD67) could particularly be implicated in middle and deep layers of neocortex of patients with major psychiatric disorders.
Objectives
Giving inquiries of whether defects of these mRNA levels in Orbitofrontal cortex (OFC) would be involved as lamina-specific patterns in individuals with schizophrenia and mood disorders.
Methods
We examined mRNA levels of BDNF, TrkB and GAD67 in each OFC layer I through VI. We analyzed data from postmortem brain tissue of the Stanley Neuropathology Consortium Integrative Database (SNCID). SNCID consists of 15 subjects in each of four groups (schizophrenia, bipolar disorder, major depression without psychotic features, and unaffected controls). All groups were matched for age, sex, race, brain pH and post-mortem interval.
Results
We found TrkB mRNA levels to be significantly reduced in layer VI in both groups with schizophrenia (25.8%) and bipolar disorder (35.7%) compared with controls. GAD67 mRNA levels were also significantly reduced in layer III and IV in patients with schizophrenia (23.4% and 22.7%, respectively) and bipolar disorder (31.2% and 24.9%, respectively) compared with controls. Individuals with major depression showed only trends toward decreased mRNA levels of GAD67 in layer III and IV and of TrkB in layer VI compared with controls. TrkB mRNA levels in layer VI were significantly correlated with GAD67 mRNA levels in layer III (ρ=0.581, p=0.037) and IV (ρ=0.857, p<0.001) in subjects with bipolar disorder, but not in those with schizophrenia. When analyzed with partial correlation controlling the effects of pH and PMI, significance of correlation remained only between GAD67 mRNA in layer IV and TrkB mRNA in layer VI in individuals with bipolar disorder (ρ=0.768, p=0.006).
Conclusions
The resulting lamina-specific decreases in inhibitory tone across layers of OFC may contribute to the unrestrained irritability and violent behaviors in common shared by both patients with schizophrenia and bipolar disorder. Nonetheless, our findings indicate the obvious correlations between lamina-specifically altered TrkB and GAD67 mRNA levels in OFC might be a candidate for endophenotype of bipolar disorder.
We investigate the diversity in the sizes and average surface densities of the neutral atomic hydrogen (H i) gas discs in $\sim$280 nearby galaxies detected by the Widefield ASKAP L-band Legacy All-sky Blind Survey (WALLABY). We combine the uniformly observed, interferometric H i data from pilot observations of the Hydra cluster and NGC 4636 group fields with photometry measured from ultraviolet, optical, and near-infrared imaging surveys to investigate the interplay between stellar structure, star formation, and H i structural parameters. We quantify the H i structure by the size of the H i relative to the optical disc and the average H i surface density measured using effective and isodensity radii. For galaxies resolved by $>$$1.3$ beams, we find that galaxies with higher stellar masses and stellar surface densities tend to have less extended H i discs and lower H i surface densities: the isodensity H i structural parameters show a weak negative dependence on stellar mass and stellar mass surface density. These trends strengthen when we limit our sample to galaxies resolved by $>$2 beams. We find that galaxies with higher H i surface densities and more extended H i discs tend to be more star forming: the isodensity H i structural parameters have stronger correlations with star formation. Normalising the H i disc size by the optical effective radius (instead of the isophotal radius) produces positive correlations with stellar masses and stellar surface densities and removes the correlations with star formation. This is due to the effective and isodensity H i radii increasing with mass at similar rates while, in the optical, the effective radius increases slower than the isophotal radius. Our results are in qualitative agreement with previous studies and demonstrate that with WALLABY we can begin to bridge the gap between small galaxy samples with high spatial resolution H i data and large, statistical studies using spatially unresolved, single-dish data.
OBJECTIVES/GOALS: In 2020, Baylor College of Medicine held a datathon to introduce a data warehouse, identify its capabilities/limitations, foster collaborations, and engage trainees. The event was held again in 2022, and lessons learned (e.g., tools for data self-service or team communication) were applied. METHODS/STUDY POPULATION: Senior faculty reviewed proposals with an emphasis on feasibility, impact, and relevance to quality improvement or population health. Selected teams worked with Information Technology (IT) for 2 months and presented findings at a 1-day event. Surveys were administered to participants before and after the event to evaluate their background, team characteristics, collaborations, knowledge before and after the datathon, perceived value of the datathon, and plans for future work. Descriptive statistics of respondents’ self-reports were tabulated. RESULTS/ANTICIPATED RESULTS: In 2022, 19 of 36 projects were accepted (13/33 in 2020). At both events, most projects studied quality improvement or clinical outcomes. Of 82 participants in 2022, 54 completed surveys. In 2022, 72% had no datathon experience (48% in 2020). Median effort was 10 person-hours; median IT time was 20% (20 and 10%, in 2020). Seven respondents finished and 21 partially finished their projects (1 and 11, in 2020); 92% made new collaborations (91% in 2020). Respondents strongly agreed that: the experience was valuable (n=28), they would participate in future datathons (n=30), and they would use the warehouse for future work (n=25). Twenty-seven have planned abstracts; 25 have planned manuscripts. DISCUSSION/SIGNIFICANCE: The 2022 datathon had more participants with less experience, potentially due to improved promotion and training opportunities. Fewer person-hours and a higher percentage of IT time were required as compared to 2020, and more projects were completed, possibly due to increased IT efficiency.
We present the highest resolution and sensitivity $\sim$$1.4\,$GHz continuum observations of the Eridanus supergroup obtained as a part of the Widefield Australian Square Kilometer Array Pathfinder (ASKAP) L-band Legacy All-sky Blind surveY (WALLABY) pre-pilot observations using the ASKAP. We detect 9461 sources at 1.37 GHz down to a flux density limit of $\sim$$0.1$ mJy at $6.1''\times 7.9''$ resolution with a median root mean square of 0.05 mJy beam$^{-1}$. We find that the flux scale is accurate to within 5 % (compared to NVSS at 1.4 GHz). We then determine the global properties of eight Eridanus supergroup members, which are detected in both radio continuum and neutral hydrogen (HI) emission, and find that the radio-derived star formation rates (SFRs) agree well with previous literature. Using our global and resolved radio continuum properties of the nearby Eridanus galaxies, we measure and extend the infrared-radio correlation (IRRC) to lower stellar masses and inferred SFRs than before. We find the resolved IRRC to be useful for: (1) discriminating between active galactic nuclei and star-forming galaxies; (2) identifying background radio sources; and (3) tracing the effects of group environment pre-processing in NGC 1385. We find evidence for tidal interactions and ram-pressure stripping in the HI, resolved spectral index and IRRC morphologies of NGC 1385. There appears to be a spatial coincidence (in projection) of double-lobed radio jets with the central HI hole of NGC 1367. The destruction of polycyclic aromatic hydrocarbons by merger-induced shocks may be driving the observed WISE W3 deficit observed in NGC 1359. Our results suggest that resolved radio continuum and IRRC studies are excellent tracers of the physical processes that drive galaxy evolution and will be possible on larger sample of sources with upcoming ASKAP radio continuum surveys.
Childhood adversities (CAs) predict heightened risks of posttraumatic stress disorder (PTSD) and major depressive episode (MDE) among people exposed to adult traumatic events. Identifying which CAs put individuals at greatest risk for these adverse posttraumatic neuropsychiatric sequelae (APNS) is important for targeting prevention interventions.
Methods
Data came from n = 999 patients ages 18–75 presenting to 29 U.S. emergency departments after a motor vehicle collision (MVC) and followed for 3 months, the amount of time traditionally used to define chronic PTSD, in the Advancing Understanding of Recovery After Trauma (AURORA) study. Six CA types were self-reported at baseline: physical abuse, sexual abuse, emotional abuse, physical neglect, emotional neglect and bullying. Both dichotomous measures of ever experiencing each CA type and numeric measures of exposure frequency were included in the analysis. Risk ratios (RRs) of these CA measures as well as complex interactions among these measures were examined as predictors of APNS 3 months post-MVC. APNS was defined as meeting self-reported criteria for either PTSD based on the PTSD Checklist for DSM-5 and/or MDE based on the PROMIS Depression Short-Form 8b. We controlled for pre-MVC lifetime histories of PTSD and MDE. We also examined mediating effects through peritraumatic symptoms assessed in the emergency department and PTSD and MDE assessed in 2-week and 8-week follow-up surveys. Analyses were carried out with robust Poisson regression models.
Results
Most participants (90.9%) reported at least rarely having experienced some CA. Ever experiencing each CA other than emotional neglect was univariably associated with 3-month APNS (RRs = 1.31–1.60). Each CA frequency was also univariably associated with 3-month APNS (RRs = 1.65–2.45). In multivariable models, joint associations of CAs with 3-month APNS were additive, with frequency of emotional abuse (RR = 2.03; 95% CI = 1.43–2.87) and bullying (RR = 1.44; 95% CI = 0.99–2.10) being the strongest predictors. Control variable analyses found that these associations were largely explained by pre-MVC histories of PTSD and MDE.
Conclusions
Although individuals who experience frequent emotional abuse and bullying in childhood have a heightened risk of experiencing APNS after an adult MVC, these associations are largely mediated by prior histories of PTSD and MDE.
We present the Widefield ASKAP L-band Legacy All-sky Blind surveY (WALLABY) Pilot Phase I Hi kinematic models. This first data release consists of Hi observations of three fields in the direction of the Hydra and Norma clusters, and the NGC 4636 galaxy group. In this paper, we describe how we generate and publicly release flat-disk tilted-ring kinematic models for 109/592 unique Hi detections in these fields. The modelling method adopted here—which we call the WALLABY Kinematic Analysis Proto-Pipeline (WKAPP) and for which the corresponding scripts are also publicly available—consists of combining results from the homogeneous application of the FAT and 3DBarolo algorithms to the subset of 209 detections with sufficient resolution and
$S/N$
in order to generate optimised model parameters and uncertainties. The 109 models presented here tend to be gas rich detections resolved by at least 3–4 synthesised beams across their major axes, but there is no obvious environmental bias in the modelling. The data release described here is the first step towards the derivation of similar products for thousands of spatially resolved WALLABY detections via a dedicated kinematic pipeline. Such a large publicly available and homogeneously analysed dataset will be a powerful legacy product that that will enable a wide range of scientific studies.
We present WALLABY pilot data release 1, the first public release of H i pilot survey data from the Wide-field ASKAP L-band Legacy All-sky Blind Survey (WALLABY) on the Australian Square Kilometre Array Pathfinder. Phase 1 of the WALLABY pilot survey targeted three
$60\,\mathrm{deg}^{2}$
regions on the sky in the direction of the Hydra and Norma galaxy clusters and the NGC 4636 galaxy group, covering the redshift range of
$z \lesssim 0.08$
. The source catalogue, images and spectra of nearly 600 extragalactic H i detections and kinematic models for 109 spatially resolved galaxies are available. As the pilot survey targeted regions containing nearby group and cluster environments, the median redshift of the sample of
$z \approx 0.014$
is relatively low compared to the full WALLABY survey. The median galaxy H i mass is
$2.3 \times 10^{9}\,{\rm M}_{{\odot}}$
. The target noise level of
$1.6\,\mathrm{mJy}$
per 30′′ beam and
$18.5\,\mathrm{kHz}$
channel translates into a
$5 \sigma$
H i mass sensitivity for point sources of about
$5.2 \times 10^{8} \, (D_{\rm L} / \mathrm{100\,Mpc})^{2} \, {\rm M}_{{\odot}}$
across 50 spectral channels (
${\approx} 200\,\mathrm{km \, s}^{-1}$
) and a
$5 \sigma$
H i column density sensitivity of about
$8.6 \times 10^{19} \, (1 + z)^{4}\,\mathrm{cm}^{-2}$
across 5 channels (
${\approx} 20\,\mathrm{km \, s}^{-1}$
) for emission filling the 30′′ beam. As expected for a pilot survey, several technical issues and artefacts are still affecting the data quality. Most notably, there are systematic flux errors of up to several 10% caused by uncertainties about the exact size and shape of each of the primary beams as well as the presence of sidelobes due to the finite deconvolution threshold. In addition, artefacts such as residual continuum emission and bandpass ripples have affected some of the data. The pilot survey has been highly successful in uncovering such technical problems, most of which are expected to be addressed and rectified before the start of the full WALLABY survey.
In 2020, Baylor College of Medicine held a datathon to inform potential users of a new data warehouse, allow users to address clinical questions, identify warehouse capabilities and limitations, foster collaborations, and engage trainees. Senior faculty selected proposals based on feasibility and impact. Selectees worked with Information Technology for 2 months and presented findings. A survey of participants showed diverse levels of experience, high perceived value of the datathon, high rates of collaboration, and significant increases in knowledge. A datathon can promote familiarity with a new data warehouse, guide data warehouse improvement, and promote collaboration.
Unresolved states of mind regarding experiences of loss/abuse (U/d) are identified through lapses in the monitoring of reasoning, discourse, and behavior surrounding loss/abuse in response to the Adult Attachment Interview. Although the coding system for U/d has been widely used for decades, the individual indicators of unresolved loss/abuse have not been validated independently of the development sample. This study examined the psychometric validity of U/d, using individual participant data from 1,009 parent–child dyads across 13 studies. A latent class analysis showed that subsets of commonly occurring U/d indicators could differentiate interviewees with or without unresolved loss/abuse. Predictive models suggested a psychometric model of U/d consisting of a combination of these common indicators, with disbelief and psychologically confused statements regarding loss being especially important indicators of U/d. This model weakly predicted infant disorganized attachment. Multilevel regression analysis showed no significant association between ratings of unresolved other trauma and infant disorganized attachment, over and above ratings of unresolved loss/abuse. Altogether, these findings suggest that the coding system of U/d may have been overfitted to the initial development sample. Directions for further articulation and optimization of U/d are provided.
Background: Susac Syndrome (SuS) is a rare autoimmune disorder of the cerebral, retinal, and inner ear microvasculature. One of the cardinal manifestations of central nervous system (CNS) involvement is encephalopathy, however the cognitive profile in SuS is poorly characterized in the literature. Methods: In this cross-sectional case series of seven participants diagnosed with Susac Syndrome in remission in British Columbia, we use a battery of neuropsychological testing, subjective disease scores, and objective markers of disease severity to characterize the affected cognitive domains and determine if any disease characteristics predict neuropsychological performance. We also compare this battery of tests to neuroimaging markers to determine if correlation exists between radiographic markers of CNS disease and clinical evaluation of disease severity. Results: There were a variety of cognitive deficits, with memory and language dysfunction being the most common. Despite the variability, performance on some neuropsychological tests (MoCA) correlated to markers of functional disability (EDSS). Additionally, MoCA and EDSS scores correlated with neuroimaging findings of both corpus callosum and white matter changes. Finally, psychiatric scores correlated with participant reported scores of disease severity. Conclusions: There is a relationship between cognitive deficits, subjective and objective disease disability, and neuroimaging findings in Susac Syndrome.
Background: Children with pathogenic variations in SCN8A can present with early infantile epileptic encephalopathy-13, benign familial infantile seizures-5 or intellectual disability alone without epilepsy. In this case series, we discuss six children with variants in SCN8A managed at BC Children’s Hospital. Methods: We describe clinical and genetic results on six individuals with SCN8A variants identified via clinical or research next-generation sequencing. Functional consequences of two SCN8A variants were assessed using electrophysiological analyses in transfected cells. Results: Clinical findings ranged from normal development with well-controlled epilepsy to significant developmental delay with treatment-resistant epilepsy. Phenotypes and genotypes in our cohort are described in the table below. Functional analysis supported gain-of-function in P2 and loss-of-function in P4. Conclusions: Our cohort expands the clinical and genotypic spectrum of SCN8A-related disorders. We establish functional evidence for two missense variants in SCN8A, including LoF variant in a patient with intellectual disability, and autism spectrum disorder without seizures.
Table for P.120
Patients
Age/Sex
Development
Age of
seizure onset
Epilepsy type
Current antiseizure medication
Seizure frequency
Gene variant/Function
Inheritance
P1
14y/F
Profound GDD
5m
Infantile spasms, LGS, hyperkinetic movements
Clobazam
Daily
c.1238C>A (p.Ala413Asp)
De novo
P2
6y/F
Normal
3-7m
Focal epilepsy
Carbamazepine
Seizure free
c.5630A>G (p.Asn1877Ser)/GoF
Paternal
P3
4y/F
Normal
12m
Focal epilepsy
Clobazam, topiramate
Seizure free
c.4447G>A (p.Glu1483Lys)
De novo
P4
6y/F
GDD, autism
3y - EEG abnormality only
-
Sodium valproate (discontinued)
No clinical seizure
c.971G>A (p.Cys324Tyr)/LoF, VUS in KCNQ3
De novo
P5
7y/M
GDD
5m
Generalized seizures
Ethosuximide, acetazolamide
Daily
c.773C>T (p.Thr258Ile)
De novo
P6
19y/F
Normal
10y
Focal epilepsy
Carbamazepine
Seizure free
c.986A>G (p.Asp329Gly)
De novo
Abbreviations: *Father with similar history, y Years, m Months, GDD Global developmental delay, LGS Lennox-Gastaut syndrome, VUS Variant of unknown significance, LoF Loss-of-function, GoF Gain-of-function, EEG Electroencephalogram, F - Female, M - Male, CBD - Cannabidiol