De novo structural variants in autism spectrum disorder disrupt distal regulatory interactions of neuronal genes.

Three-dimensional genome organization plays a critical role in gene regulation, and disruptions can lead to developmental disorders by altering the contact between genes and their distal regulatory elements. Structural variants (SVs) can disturb local genome organization, such as the merging of topologically associating domains upon boundary deletion. Testing large numbers of SVs experimentally for their effects on chromatin structure and gene expression is time and cost prohibitive.

Oxytocin receptor controls promiscuity and development in prairie voles.

Oxytocin receptor (Oxtr) signaling influences complex social behaviors in diverse species, including social monogamy in prairie voles. How Oxtr regulates specific components of social attachment behaviors and the neural mechanisms mediating them remains unknown. Here, we examine prairie voles lacking Oxtr and demonstrate that pair bonding comprises distinct behavioral modules: the preference for a bonded partner, and the rejection of novel potential mates.

An evaluation and refinement of the "Hep B Story" app, tailored to meet the community's cultural needs.

Background: Hepatitis B is endemic amongst the Australian Aboriginal population in the Northern Territory. A participatory action research project identified the lack of culturally appropriate education tools and led to the development of the "Hep B Story" app in the Aboriginal language Yolŋu Matha. This paper describes a formal evaluation of the app's first version, which informed improvements and translation into a further ten Aboriginal languages.

Autism genes converge on microtubule biology and RNA-binding proteins during excitatory neurogenesis.

Recent studies have identified over one hundred high-confidence (hc) autism spectrum disorder (ASD) genes. Systems biological and functional analyses on smaller subsets of these genes have consistently implicated excitatory neurogenesis. However, the extent to which the broader set of hcASD genes are involved in this process has not been explored systematically nor have the biological pathways underlying this convergence been identified.

EEG electrode localization with 3D iPhone scanning using point-cloud electrode selection (PC-ES).

Electroencephalography source imaging (ESI) is a valuable tool in clinical evaluation for epilepsy patients but is underutilized in part due to sensitivity to anatomical modeling errors. Accurate localization of scalp electrodes is instrumental to ESI, but existing localization devices are expensive and not portable. As a result, electrode localization challenges further impede access to ESI, particularly in inpatient and intensive care settings.

Cerebrospinal fluid virology in people with HIV.

Objective: Our objectives were to investigate the recent frequency of cerebrospinal fluid (CSF) HIV RNA escape and other CSF viral nucleic acid detection in people with HIV with neurological symptoms and to assess associated clinical factors.

Method: This was a retrospective cohort analysis of people with HIV who underwent CSF examination for clinical indications between 2017 and 2022. Individuals were identified from pathology records, and clinical data were recorded.

Multiscale Human Activity Recognition and Anticipation Network.

Deep convolutional neural networks have been leveraged to achieve huge improvements in video understanding and human activity recognition performance in the past decade. However, most existing methods focus on activities that have similar time scales, leaving the task of action recognition on multiscale human behaviors less explored. In this study, a two-stream multiscale human activity recognition and anticipation (MS-HARA) network is proposed, which is jointly optimized using a multitask learning method.

Novel Electrode Placement in Electrical Bioimpedance-Based Stroke Detection: Effects on Current Penetration and Injury Characterization in a Finite Element Model.

Objective: Reducing time-to-treatment and providing acute management in stroke are essential for patient recovery. Electrical bioimpedance (EBI) is an inexpensive and non-invasive tissue measurement approach that has the potential to provide novel continuous intracranial monitoring-something not possible in current standard-of-care. While extensive previous work has evaluated the feasibility of EBI in diagnosing stroke, high-impedance anatomical features in the head have limited clinical translation.

Robust and prototypical immune responses toward influenza vaccines in the high-risk group of Indigenous Australians.

Morbidity and mortality rates from seasonal and pandemic influenza occur disproportionately in high-risk groups, including Indigenous people globally. Although vaccination against influenza is recommended for those most at risk, studies on immune responses elicited by seasonal vaccines in Indigenous populations are largely missing, with no data available for Indigenous Australians and only one report published on antibody responses in Indigenous Canadians. We recruited 78 Indigenous and 84 non-Indigenous Australians vaccinated with the quadrivalent influenza vaccine into the Looking into InFluenza T cell immunity - Vaccination cohort study and collected blood to define baseline, early (day 7), and memory (day 28) immune responses.

A bioimpedance-based monitor for real-time detection and identification of secondary brain injury.

Secondary brain injury impacts patient prognosis and can lead to long-term morbidity and mortality in cases of trauma. Continuous monitoring of secondary injury in acute clinical settings is primarily limited to intracranial pressure (ICP); however, ICP is unable to identify essential underlying etiologies of injury needed to guide treatment (e.g.

Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience.

Gene Ontology analyses of autism spectrum disorders (ASD) risk genes have repeatedly highlighted synaptic function and transcriptional regulation as key points of convergence. However, these analyses rely on incomplete knowledge of gene function across brain development. Here we leverage Xenopus tropicalis to study in vivo ten genes with the strongest statistical evidence for association with ASD.

Global Health in Preconception, Pregnancy and Postpartum Alliance: development of an international consumer and community involvement framework.

Background: The goal of the Global Health in Preconception, Pregnancy and Postpartum (HiPPP) Alliance, comprising consumers and leading international multidisciplinary academics and clinicians, is to generate research and translation priorities and build international collaboration around healthy lifestyle and obesity prevention among women across the reproductive years. In doing so, we actively seek to involve consumers in research, implementation and translation initiatives. There are limited frameworks specifically designed to involve women across the key obesity prevention windows before (preconception), during and after pregnancy (postpartum).

The neurodevelopmental disorder risk gene is required for ciliogenesis and control of brain size in embryos.

[dual specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A] is a high-confidence autism risk gene that encodes a conserved kinase. In addition to autism, individuals with putative loss-of-function variants in exhibit microcephaly, intellectual disability, developmental delay and/or congenital anomalies of the kidney and urinary tract. is also located within the critical region for Down syndrome; therefore, understanding the role of in brain development is crucial for understanding the pathobiology of multiple developmental disorders.

COVID-19-related acute necrotizing encephalopathy with brain stem involvement in a patient with aplastic anemia.

Objective: To describe a novel case of coronavirus disease 2019 (COVID-19)-associated acute necrotizing encephalopathy (ANE) in a patient with aplastic anemia where there was early brain stem-predominant involvement.

Methods: Evaluation of cause, clinical symptoms, and treatment response.

Results: A 59-year-old woman with a background of transfusion-dependent aplastic anemia presented with seizures and reduced level of consciousness 10 days after the onset of subjective fever, cough, and headache.

Phantom Studies of Fused-Data TREIT Using Only Biopsy-Probe Electrodes.

Transrectal electrical impedance tomography (TREIT) is a novel imaging modality being developed for prostate biopsy guidance and cancer characterization. We describe a novel fused-data TREIT (fd-TREIT) system and approach developed to improve imaging robustness and evaluate it on challenging clinically-representative phantoms. The new approach incorporates 8 electrodes (in 2 rows) on a biopsy probe (BP) and 12 electrodes on the face of a transrectal ultrasound (TRUS) probe and includes a biopsy gun, instrument tracking, 3D-printed needle guide, and EIT hardware and software.

Enhancing WNT Signaling Restores Cortical Neuronal Spine Maturation and Synaptogenesis in Tbr1 Mutants.

Tbr1 is a high-confidence autism spectrum disorder (ASD) gene encoding a transcription factor with distinct pre- and postnatal functions. Postnatally, Tbr1 conditional knockout (CKO) mutants and constitutive heterozygotes have immature dendritic spines and reduced synaptic density. Tbr1 regulates expression of several genes that underlie synaptic defects, including a kinesin (Kif1a) and a WNT-signaling ligand (Wnt7b).

3D Printed Deformable Surfaces for Shape-Changing Displays.

We use interlinked 3D printed panels to fabricate deformable surfaces that are specifically designed for shape-changing displays. Our exploration of 3D printed deformable surfaces, as a fabrication technique for shape-changing displays, shows new and diverse forms of shape output, visualizations, and interaction capabilities. This article describes our general design and fabrication approach, the impact of varying surface design parameters, and a demonstration of possible application examples.

Comparative Flavivirus-Host Protein Interaction Mapping Reveals Mechanisms of Dengue and Zika Virus Pathogenesis.

Mosquito-borne flaviviruses, including dengue virus (DENV) and Zika virus (ZIKV), are a growing public health concern. Systems-level analysis of how flaviviruses hijack cellular processes through virus-host protein-protein interactions (PPIs) provides information about their replication and pathogenic mechanisms. We used affinity purification-mass spectrometry (AP-MS) to compare flavivirus-host interactions for two viruses (DENV and ZIKV) in two hosts (human and mosquito).

Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity.

An understanding of how heterozygous loss-of-function mutations in autism spectrum disorder (ASD) risk genes, such as TBR1, contribute to ASD remains elusive. Conditional Tbr1 deletion during late mouse gestation in cortical layer 6 neurons (Tbr1 mutants) provides novel insights into its function, including dendritic patterning, synaptogenesis, and cell-intrinsic physiology. These phenotypes occur in heterozygotes, providing insights into mechanisms that may underlie ASD pathophysiology.

Genetic variation associated with increased insecticide resistance in the malaria mosquito, Anopheles coluzzii.

Background: Malaria mortality rates in sub-Saharan Africa have declined significantly in recent years as a result of increased insecticide-treated bed net (ITN) usage. A major challenge to further progress is the emergence and spread of insecticide resistance alleles in the Anopheles mosquito vectors, like An. coluzzii.