Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Purpose: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes.

Quantifying EGFR endosomal recycling via immunofluorescence in breast cancer cells.

Previously published protocols for quantification of endosomal recycling are limited by the use of radioactive reagents, washing of cells in reducing buffers, or the requirement for large numbers of cells. Here, we describe a protocol for quantification of endosomal recycling using immunofluorescence that is optimized for EGFR in BT-549 breast cancer cells but could be applied to other RTKs and cell lines. Our protocol enables quick assessment of recycling and uses a relatively small number of cells.

Harnessing the chemokine system to home CAR-T cells into solid tumors.

CAR-T cell therapy has been heralded as a breakthrough in the field of immunotherapy, but to date, this success has been limited to hematological malignancies. By harnessing the chemokine system and taking into consideration the chemokine expression profile in the tumor microenvironment, CAR-T cells may be homed into tumors to facilitate direct tumor cell cytolysis and overcome a major hurdle in generating effective CAR-T cell responses to solid cancers.

Exposure to family and domestic violence is associated with lower attendance and higher suspension in school children.

Background: Exposure to family and domestic violence (FDV) in childhood can have a detrimental effect on children's health and social outcomes. However, research on the school outcomes of children exposed to FDV is scant.

Objectives: To investigate the impact of FDV exposure on school attendance and suspension in Aboriginal and non-Aboriginal children.

Gestures Enhance Executive Functions for the Understating of Mathematical Concepts.

This article discusses the role of gestures in enhancing inhibition, working memory, and cognitive flexibility as the three components of executive functions during the processing of mathematical concepts that are metaphorically described in terms of motion events. Gestures can contribute to the process of inhibition by highlighting the relevant information and keeping the irrelevant information out of focus of attention. Gestures contribute to working memory in two ways during mathematical processing.

Evaluation of antenatal Point-of-Care Ultrasound (PoCUS) training: a systematic review.

Introduction: There is limited access to life-saving antenatal ultrasound in rural and low-resource settings largely due to shortages in skilled staff. Studies have shown healthcare practitioners can be upskilled in PoCUS through focused training, offering a viable solution to this deficit. However, standards for training and competency assessment are unclear and regulation surrounding practice is lacking.

Transcriptional and post-transcriptional control of epithelial-mesenchymal plasticity: why so many regulators?

The dynamic transition between epithelial-like and mesenchymal-like cell states has been a focus for extensive investigation for decades, reflective of the importance of Epithelial-Mesenchymal Transition (EMT) through development, in the adult, and the contributing role EMT has to pathologies including metastasis and fibrosis. Not surprisingly, regulation of the complex genetic networks that underlie EMT have been attributed to multiple transcription factors and microRNAs. What is surprising, however, are the sheer number of different regulators (hundreds of transcription factors and microRNAs) for which critical roles have been described.

Changes in five-year survival for people with acute leukaemia in South Australia, 1980-2016.

Objectives: To examine population changes in 5-year survival for people in South Australia diagnosed with acute leukaemia during 1980-2016, by socio-demographic characteristics.

Design, Setting: Retrospective analysis of South Australian Cancer Registry data for the period 1980-2016.

Participants: All South Australian residents diagnosed with primary acute lymphoblastic leukaemia (ALL) or acute myeloid leukaemia (AML) during 1980-2016.

Australian podiatrists scheduled medicine prescribing practices and barriers and facilitators to endorsement: a cross-sectional survey.

Background: Non-medical prescribing is one healthcare reform strategy that has the potential to create health system savings and offer equitable and timely access to scheduled medicines. Podiatrists are well positioned to create health system efficiencies through prescribing, however, only a small proportion of Australian podiatrists are endorsed to prescribe scheduled medicines. Since scheduled medicines prescribed by Australian podiatrists are not subsidised by the Government, there is a lack of data available on the prescribing practices of Australian podiatrists.

An Australian rental housing conditions research infrastructure.

Each year the proportion of Australians who rent their home increases and, for the first time in generations, there are now as many renters as outright homeowners. Researchers and policy makers, however, know very little about housing conditions within Australia's rental housing sector due to a lack of systematic, reliable data. In 2020, a collaboration of Australian universities commissioned a survey of tenant households to build a data infrastructure on the household and demographic characteristics, housing quality and conditions in the Australian rental sector.

Scaffold geometry modulation of mechanotransduction and its influence on epigenetics.

The dynamics of cell mechanics and epigenetic signatures direct cell behaviour and fate, thus influencing regenerative outcomes. In recent years, the utilisation of 2D geometric (i.e.

Development and measurement properties of the AxEL (attitude toward education and advice for low-back-pain) questionnaire.

Introduction: Clinician time and resources may be underutilised if the treatment they offer does not match patient expectations and attitudes. We developed a questionnaire (AxEL-Q) to guide clinicians toward elements of first-line care that are pertinent to their patients with low back pain.

Methods: We used guidance from the COSMIN consortium to develop the questionnaire and evaluated it in a sample of people with low back pain of any duration.

Aberrant post-translational modifications in endosomal trafficking are potential therapeutic targets to avert therapy resistance in solid cancers: Dysregulation of PTM-regulated endosomal interactions presents an opportunity to block oncogenic signalling from multiple receptors by targeting common trafficking pathways: Dysregulation of PTM-regulated endosomal interactions presents an opportunity to block oncogenic signalling from multiple receptors by targeting common trafficking pathways.

Drugs targeting a single TK/RTK in the treatment of solid cancers has not had the same success seen in blood cancers. This is, in part, due to acquired resistance in solid cancers arising from a range of mechanisms including the upregulation of compensatory RTK signalling. Rather than attempting to inhibit individual compensatory RTK-requiring knowledge of which RTKs are upregulated in any given tumour-strategies to universally inhibit signalling from multiple RTKs may represent an effective alternative.

Differentiation of the tumor microenvironment: are CAFs the Organizer?

Cancers contain a suite of genetically stable cells within an extracellular matrix, collectively termed the tumor microenvironment (TME). The TME strongly influences disease outcome for patients. Gleaning clues from the literature, we propose that the TME should be viewed not as disparate populations of cells constituting a pathological lesion, but as a cohesive tissue constituting a novel pathological organ, arising from the coordinated differentiation of its constituent cell types - a process we have termed tumor-associated neodifferentiation (TAND).

Messing with βc: A unique receptor with many goals.

Our understanding of the biological role of the βc family of cytokines has evolved enormously since their initial identification as bone marrow colony stimulating factors in the 1960's. It has become abundantly clear over the intervening decades that this family of cytokines has truly astonishing pleiotropic capacity, capable of regulating not only hematopoiesis but also many other normal and pathological processes such as development, inflammation, allergy and cancer. As noted in the current pandemic, βc cytokines contribute to the cytokine storm seen in acutely ill COVID-19 patients.

Ultra-small gold nanoclusters assembled on plasma polymer-modified zeolites: a multifunctional nanohybrid with anti-haemorrhagic and anti-inflammatory properties.

Hemostatic agents are pivotal for managing clinical and traumatic bleeding during emergency and domestic circumstances. Herein, a novel functional hybrid nanocomposite material consisting of plasma polymer-modified zeolite 13X and ultra-small gold nanoclusters (AuNCs) was fabricated as an efficient hemostatic agent. The surface of zeolite 13X was functionalised with amine groups which served as binding sites for carboxylate terminated AuNCs.

Determining the credibility, accuracy and comprehensiveness of websites educating consumers on complex regional pain syndrome accessible in Australia: a systematic review.

Complex regional pain syndrome (CRPS) is a distressing and disabling pain condition. Many people with CRPS and the health professionals who treat them seek information about the condition via the Internet. The credibility, accuracy and comprehensiveness of online CRPS information remains unknown.

"But it feels swollen!": the frequency and clinical characteristics of people with knee osteoarthritis who report subjective knee swelling in the absence of objective swelling.

Introduction: There are complex interactions between pain and perceptions of the painful body part in musculoskeletal disorders, and disruption of various body representations in people with chronic pain.

Objectives: The purpose of this study was to investigate how frequently people with knee osteoarthritis (OA) complain of swelling without objective evidence of swelling, and describe the clinical characteristics of this population.

Methods: Forty-six people with knee OA (68.

CXCR4-CCR7 Heterodimerization Is a Driver of Breast Cancer Progression.

Metastatic breast cancer has one of the highest mortality rates among women in western society. Chemokine receptors CXCR4 and CCR7 have been shown to be linked to the metastatic spread of breast cancer, however, their precise function and underlying molecular pathways leading to the acquisition of the pro-metastatic properties remain poorly understood. We demonstrate here that the CXCR4 and CCR7 receptor ligands, CXCL12 and CCL19, cooperatively bind and selectively elicit synergistic signalling responses in invasive breast cancer cell lines as well as primary mammary human tumour cells.