2,334 research outputs found

    Disruption of paediatric orthopaedic hospital services due to the COVID-19 pandemic in a region with minimal COVID-19 illness

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    Purpose: This study was designed to evaluate the impact of the COVID-19 pandemic on paediatric orthopaedic services in a paediatric tertiary hospital in South Australia. Methods: A retrospective audit was conducted of orthopaedic activity at a major paediatric tertiary hospital with a Level 1 paediatric trauma centre, where no patients were admitted with COVID-19 illness. Orthopaedic Emergency Department (ED) presentations, outpatient clinics and hospital admissions for the period between 16 March 2020 to 26 April 2020 were studied and compared with the same period in 2019 (18 March 2019 to 28 April 2019). Chi-square tests were performed with p < 0.05 indicating statistical significance. Results: In total, 621 patients presented to the ED with orthopaedic complaints during the pandemic (versus 997 in 2019). However, there was minimal change in the number of ED presentations requiring admission (110 in 2020 versus 116 in 2019). Among patients discharged directly from ED, 27.3% received hospital outpatient referral (versus 39.1% in 2019), with the remaining patients referred to community health services or discharged directly. There was a 509.8% increase in telehealth (video and phone) outpatient consultations compared to 2019 and a 60.6% decline in face-to-face appointments. There was a total of 144 orthopaedic admissions (elective and emergency) compared to 184 in 2019. Admissions for children under seven remained unchanged (32.5% reduction in children aged seven and above). Conclusion: Despite an overall decline in all paediatric orthopaedic hospital activity, the number of emergency admissions for musculoskeletal conditions did not change. Elective surgery numbers for children aged under seven were also unchanged. Appropriate planning and hospital resources allocation are necessary to meet this service requirement in future pandemics. Level of evidence I

    Galaxy Zoo: Exploring the Motivations of Citizen Science Volunteers

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    The Galaxy Zoo citizen science website invites anyone with an Internet connection to participate in research by classifying galaxies from the Sloan Digital Sky Survey. As of April 2009, more than 200,000 volunteers had made more than 100 million galaxy classifications. In this paper, we present results of a pilot study into the motivations and demographics of Galaxy Zoo volunteers, and define a technique to determine motivations from free responses that can be used in larger multiple-choice surveys with similar populations. Our categories form the basis for a future survey, with the goal of determining the prevalence of each motivation.Comment: 15 pages, 3 figure

    Water, Sanitation, and Hygiene (WASH): a critical component for sustainable soil-transmitted helminth and schistosomiasis control

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    Soil-transmitted helminths (STH) and schistosomes are parasites that affect the world’s poorest people, causing losses of up to 39 million and 70 million disability adjusted life years (DALYs) respectively. The World Health Organization (WHO) is at the forefront of developing policy for the control of STH and schistosomiasis, advocating for chemotherapy as the cornerstone of control, with the objective of reducing infection-associated morbidity. Global uptake of chemotherapy with albendazole or mebendazole for STH and praziquantel for schistosomiasis has significantly increased and remains the principal control strategy. It is cost-effective and reduces STH and schistosome infections in human hosts.SJC is funded by an Australian Postgraduate Award and a University of Queensland Advantage Scholarship, ACAC is an Australian National Health and Medical Research Council (NHMRC) Career Development Fellow (631619), RJSM is funded by a Post-doctoral Research Fellowship from the University of Queensland (41795457), JSM is an Australian National Health and Medical Research Council Practitioner Fellow, and DJG is an Australian Research Council (DECRA) Fellow. This work is funded by an NHMRC Partnership project in collaboration with WaterAid Australia

    The influence of intention, outcome and question-wording on children's and adults' moral judgments

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    The influence of intention and outcome information on moral judgments was investigated by telling children aged 4-8 years and adults (N=169) stories involving accidental harms (positive intention, negative outcome) or attempted harms (negative intention, positive outcome) from two studies (Helwig, Zelazo, & Wilson, 2001; Zelazo, Helwig, & Lau, 1996). When the original acceptability (wrongness) question was asked, the original findings were closely replicated: children’s and adults’ acceptability judgments, and children’s punishment judgments, were primarily outcome-based. However, when this question was rephrased, 4-5-year-olds’ judgments were approximately equally influenced by intention and outcome, and from 5-6 years they were primarily intention-based. These findings indicate that, for methodological reasons, children’s (and adults’) ability to make intention-based judgment has often been substantially underestimated

    Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

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    Asthma is a common disease with a complex risk architecture including both genetic and environmental factors. We performed a meta-analysis of North American genome-wide association studies of asthma in 5,416 individuals with asthma (cases) including individuals of European American, African American or African Caribbean, and Latino ancestry, with replication in an additional 12,649 individuals from the same ethnic groups. We identified five susceptibility loci. Four were at previously reported loci on 17q21, near IL1RL1, TSLP and IL33, but we report for the first time, to our knowledge, that these loci are associated with asthma risk in three ethnic groups. In addition, we identified a new asthma susceptibility locus at PYHIN1, with the association being specific to individuals of African descent (P = 3.9 × 10(-9)). These results suggest that some asthma susceptibility loci are robust to differences in ancestry when sufficiently large samples sizes are investigated, and that ancestry-specific associations also contribute to the complex genetic architecture of asthma

    Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

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    Introduction: Many of the DNA sequence variants identified in the breast cancer susceptibility gene BRCA1 remain unclassified in terms of their potential pathogenicity. Both multifactorial likelihood analysis and functional approaches have been proposed as a means to elucidate likely clinical significance of such variants, but analysis of the comparative value of these methods for classifying all sequence variants has been limited. Methods: We have compared the results from multifactorial likelihood analysis with those from several functional analyses for the four BRCA1 sequence variants A1708E, G1738R, R1699Q, and A1708V. Results: Our results show that multifactorial likelihood analysis, which incorporates sequence conservation, co-inheritance, segregation, and tumour immunohistochemical analysis, may improve classification of variants. For A1708E, previously shown to be functionally compromised, analysis of oestrogen receptor, cytokeratin 5/6, and cytokeratin 14 tumour expression data significantly strengthened the prediction of pathogenicity, giving a posterior probability of pathogenicity of 99%. For G1738R, shown to be functionally defective in this study, immunohistochemistry analysis confirmed previous findings of inconsistent 'BRCA1-like' phenotypes for the two tumours studied, and the posterior probability for this variant was 96%. The posterior probabilities of R1699Q and A1708V were 54% and 69%, respectively, only moderately suggestive of increased risk. Interestingly, results from functional analyses suggest that both of these variants have only partial functional activity. R1699Q was defective in foci formation in response to DNA damage and displayed intermediate transcriptional transactivation activity but showed no evidence for centrosome amplification. In contrast, A1708V displayed an intermediate transcriptional transactivation activity and a normal foci formation response in response to DNA damage but induced centrosome amplification. Conclusion: These data highlight the need for a range of functional studies to be performed in order to identify variants with partially compromised function. The results also raise the possibility that A1708V and R1699Q may be associated with a low or moderate risk of cancer. While data pooling strategies may provide more information for multifactorial analysis to improve the interpretation of the clinical significance of these variants, it is likely that the development of current multifactorial likelihood approaches and the consideration of alternative statistical approaches will be needed to determine whether these individually rare variants do confer a low or moderate risk of breast cancer

    Δ40 Isoform of p53 Controls β-Cell Proliferation and Glucose Homeostasis in Mice

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    Objective: Investigating the dynamics of pancreatic β\beta-cell mass is critical for developing strategies to treat both type 1 and type 2 diabetes. p53, a key regulator of the cell cycle and apoptosis, has mostly been a focus of investigation as a tumor suppressor. Although p53 alternative transcripts can modulate p53 activity, their functions are not fully understood. We hypothesized that β\beta-cell proliferation and glucose homeostasis were controlled by Δ\Delta40p53, a p53 isoform lacking the transactivation domain of the full-length protein that modulates total p53 activity and regulates organ size and life span in mice. Research Design and Methods: We phenotyped metabolic parameters in Δ\Delta40p53 transgenic (p44tg) mice and used quantitative RT-PCR, Western blotting, and immunohistochemistry to examine β\beta-cell proliferation. Results: Transgenic mice with an ectopic p53 gene encoding Δ\Delta40p53 developed hypoinsulinemia and glucose intolerance by 3 months of age, which worsened in older mice and led to overt diabetes and premature death from \sim14 months of age. Consistent with a dramatic decrease in β\beta-cell mass and reduced β\beta-cell proliferation, lower expression of cyclin D2 and pancreatic duodenal homeobox-1, two key regulators of proliferation, was observed, whereas expression of the cell cycle inhibitor p21, a p53 target gene, was increased. Conclusions: These data indicate a significant and novel role for Δ\Delta40p53 in β\beta-cell proliferation with implications for the development of age-dependent diabetes
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