Anti-money laundering and counter-terrorism financing survey of regulated businesses in Australia - methodology report

This report provides a stand-alone description of how the Australian Institute of Criminology’s Anti-money Laundering/Counter-terrorism Financing Survey of regulated businesses was undertaken, emphasising the importance of understanding the methodology and design of this national census of regulated businesses in Australia. As is often the case with social scientific research of a quantitative nature, the detail of how surveys were conducted are sometimes relegated to deep within a long report, or attached in a lengthy appendix, often being overlooked by the average reader. This report provides a stand-alone description of how the Australian Institute of Criminology’s Anti-money Laundering/Counter-terrorism Financing Survey of regulated businesses was undertaken, thus emphasising the importance of understanding the methodology and design of this national census of regulated businesses in Australia. It reviews all of the procedures and steps undertaken from a data collection and methodological perspective and provides an important accompaniment to the major survey report published in conjunction with this methodological review. Both reports should be read together. The current report provides a summary of the methodological approach, consolidation of assorted reports generated throughout the study, a review of sample utilisation and response dynamics and a summary of issues for consideration for future similar surveys

Environment Agency review of methods for determining organic waste biodegradability and municipal waste diversion.

The Environment Agency is required to regulate the landfilling of biodegradable organic wastes and their diversion from landfilling. Simple, cost effective, reliable and widely applicable methods for the measurement of organic waste and its biodegradability are needed for this activity. A review of such methods was carried out in order to select promising methods for an experimental screening exercise. The review considered both biological and non-biological methods including simple methods that may provide a surrogate measurement of waste biodegradability instead of the time-consuming biological methods. The biological methods selected for further evaluation were the aerobic specific oxygen uptake rate (SOUR) and dynamic respiration index (DRI) tests, and the anaerobic biochemical methane potential (BMP) test. The non-biological methods selected for further evaluation were dry matter (DM), loss on ignition (LOI), total organic carbon (TOC), total nitrogen (TN), water extractable dissolved organic carbon (DOC), BOD and COD, the lignin and cellulose content and the cellulase hydrolysis method. These tests are being evaluated on a wide variety of typical organic materials that might be found in municipal solid waste (MSW) such as newspaper corrugated paper, compost, kitchen waste (vegetable and animal), garden wastes (grass and twigs), nappies, cotton and wool textiles

Staphylococcus aureus MnhF mediates cholate efflux and facilitates survival under human colonic conditions

Resistance to the innate defences of the intestine is crucial for the survival and carriage of Staphylococcus aureus, a common coloniser of the human gut. Bile salts produced by the liver and secreted into the intestines are one such group of molecules with potent anti-microbial activity. The mechanisms by which S. aureus is able to resist such defences in order to colonize and survive in the human gut are unknown. Here we show that mnhF confers resistance to bile salts, which can be abrogated by efflux pump inhibitors. MnhF mediates efflux of radiolabelled cholic acid in both S. aureus and when heterologously expressed in Escherichia coli, rendering them resistant. Deletion of mnhF attenuated survival of S. aureus in an anaerobic three stage continuous culture model of the human colon (gut model), which represent different anatomical areas of the large intestine

Patient and public involvement and engagement in a doctoral research project exploring self-harm in older adults

Background: The contribution of involving patients and public in health research is widely reported, particularly within mental health research. Less is written about such contributions to doctoral research. The research focus of this doctoral research, self-harm in older adults, was put forward by a Patient Public Involvement Engagement (PPIE) group, who contributed to its development. Aims: Critically reflect on the process, potential impact and identify challenges and opportunities in involving robust PPIE in a doctoral study. Methods: Three PPIE members contributed to a systematic review (SR) and a qualitative study through a series of four workshops to meet the aims of the study. PPIE contributed to developing the SR review questions, protocol, data analysis and dissemination of findings. For the qualitative study, they helped develop research questions, protocol, public-facing documentation, recruitment strategies and data analysis. Involvement followed the GRIPP2-SF reporting checklist. Results: PPIE enhanced methodological rigour, data analysis, interpretation and dissemination of findings. Challenges included lack of ethical guidance, time-related pressures and ensuring support for PPIE members. These were successfully managed through ongoing dialogue and regular communication. Conclusions: PPIE can enhance the quality and depth of doctoral research, as lived experiences shared by PPIE members add to research's components. Exposing early-career researchers to PPIE can build research cultures sensitive to PPIE's potential contribution and develop the expertise needed to avoid tokenistic involvement. Capturing lay perspectives is essential in mental health research to ensure research findings are accessible and that findings inform clinical practice. However, clear guidance on the ethical dimensions to PPIE is needed

Cold temperature does not affect perceived exertion in males and females during submaximal cycling

Background: Perceived exertion is an acknowledged indicator of exercise intensity and homeostasis disturbance of an individual, however, there are few studies that have examined the influence of cold temperatures on perceived exertion measurements. Cognition is crucial to perception and exposure to cold temperatures can elicit decrements in cognition. Aims & Objectives: The aim of this study was to determine if, and to what extent, exposure to cold environments may influence perceived exertion and cognitive ability. Study Design: Randomised controlled trial. Materials & Methods: Sixteen participants (m= 8, f= 8, age: 22.3 ± 1.7 years (mean ± SD)), completed two trials in a randomised order in COLD (5°C) and CONTROL (18 °C, 55% relative humidity) conditions. During each trial, following a standardised warm up, participants performed a 6-minute cycle ergometer submaximal exercise. Cognitive ability was assessed pre and post exercise with a reaction time (RT) test. Participant’s physiological responses were measured using Rate of Perceived Exertion (RPE), Heart Rate (HR), Oxygen consumption (VO2), Minute Ventilation (VE), Tympanic (Tt) and Skin Temperature (Tsk) continuously during testing. Statistics: Two-way repeated measures Analysis of Variances (ANOVA), were between environmental conditions over time.Data are reported as mean (M) ± standard deviation (SD).Ordinal Friedman ANOVA tests were conducted on RPE data between environmental conditions and gender. Non-parametric descriptive statistics were reported as medians (Mdn) and inter-quartile ranges (IQR) (25th–75thPercentile). Statistical significance was accepted at p 0.05) reported in RPE, VO2 and VEbetween COLD and CONTROL groups, however, significant decreases in Tsk(p= 0.001) and Tt(p= 0.001) were observed in COLD compared to CONTROL groups. Additionally, no significant differences (p > 0.05) in RT occurred between COLD and CONTROL. Furthermore, no significant differences in RPE were established between genders. Conclusions: Short-term exposure to cold temperatures does not significantly affect physical exertion perception or cognitive abilit

Continuous Traumatic Stress: Examining the Experiences and Support Needs of Women After Separation From an Abusive Partner

Intimate partner violence causes significant, long-lasting harm to almost one-third (27%) of the world’s population of women. Even when women leave abusive relationships, some men continue to exercise control over their ex-partners through psychological control, threats, violence, stalking, and other forms of harassment. In this qualitative study, 52 purposively sampled women who self-identified as victims or survivors of intimate partner violence (IPV) from male partners were interviewed. Data were analyzed with a theoretically informed thematic analysis, supported by Nvivo® software. We found that leaving a violent relationship was a long-term process fraught with difficulty and ongoing risks of psychological harm. The concept of Continuous Traumatic Stress (CTS), first developed to understand the impact of state-sponsored violence and war, was found to be a particularly useful tool for the analysis of the impact of post-separation abuse. Additionally, CTS encourages researchers and practitioners to think anew about resilience-centered approaches to improving protection and access to justice for female victims

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

<p>Abstract</p> <p>Background</p> <p>Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome.</p> <p>Case Presentation</p> <p>The patient was subjected to clinical and molecular evaluation, including array CGH analysis. The clinical features included left clinical anophthalmia, right microphthalmia, anteriorly placed anus with fistula, chordee, ventriculoseptal defect, patent ductus arteriosus, posteriorly rotated ears, hypotonia, growth retardation with delayed bone age, and mental retardation. The patient was found to have an approximately 5.6 Mb deletion of 16q11.2q12.1 by microarray based-comparative genomic hybridization, which includes the <it>SALL1 </it>gene, which causes Townes-Brocks syndrome.</p> <p>Conclusions</p> <p>Deletions of 16q11.2q12.2 have been reported in several individuals, although those prior reports did not note microphthalmia or anophthalmia. This region includes <it>SALL1</it>, which causes Townes-Brocks syndrome. In retrospect, this child has a number of features that can be explained by the <it>SALL1 </it>deletion, although it is not clear if the microphthalmia is a rare feature of Townes-Brocks syndrome or caused by other mechanisms. These data suggest that rare copy number changes may be a cause of syndromic microphthalmia allowing a personalized genomic medicine approach to the care of patients with these aberrations.</p

Genome wide association study of Preserved Ratio Impaired Spirometry (PRISm)

Background: Preserved Ratio Impaired Spirometry (PRISm) is defined as FEV1 &lt;80% predicted, FEV1/FVC ≥0.70. PRISm is associated with respiratory symptoms and co-morbidities. Our objective was to discover novel genetic signals for PRISm and see if they provide insight into the pathogenesis of PRISm and associated co-morbidities.Methods: We undertook a genome-wide association study (GWAS) of PRISm in UK Biobank participants (Stage 1), and selected SNPs reaching genome-wide significance for replication in 13 cohorts (Stage 2). A combined meta-analysis of Stage 1 and Stage 2 was done to determine top SNPs. We used cross-trait Linkage Disequilibrium score regression to estimate genome-wide genetic correlation between PRISM and pulmonary and extra-pulmonary traits. Phenome-wide association studies of top SNPs was performed. Results: 22 signals reached significance in the joint meta-analysis, including four signals novel for lung function. A strong genome-wide genetic correlation (rg) between PRISm and spirometric COPD (rg = 0.62, p-value &lt;0.001) was observed, and genetic correlation with type II diabetes (rg = 0.12, p-value 0.007). PheWAS showed that 18 of 22 signals were associated with diabetic traits and 7 with blood pressure traits.Discussion: This is the first GWAS to successfully identify SNPs associated with PRISm. Four of the signals; rs7652391 (nearest gene MECOM), rs9431040 (HLX), rs62018863 (TMEM114) and rs185937162 (HLA-B) have not been described in association with lung function before, demonstrating the utility of using different lung function phenotypes in GWAS. Genetic factors associated with PRISm are strongly correlated with risk of both other lung diseases and extra-pulmonary co-morbidity.<br/

Pulmonary Function and Blood DNA Methylation: A Multiancestry Epigenome-Wide Association Meta-Analysis

Rationale: Methylation integrates factors present at birth and modifiable across the lifespan that can influence pulmonary function. Studies are limited in scope and replication. Objectives: To conduct large-scale epigenome-wide meta-analyses of blood DNA methylation and pulmonary function. Methods: Twelve cohorts analyzed associations of methylation at cytosine-phosphate-guanine probes (CpGs), using Illumina 450K or EPIC/850K arrays, with FEV1, FVC, and FEV1/FVC. We performed multiancestry epigenome-wide meta-analyses (total of 17,503 individuals; 14,761 European, 2,549 African, and 193 Hispanic/Latino ancestries) and interpreted results using integrative epigenomics. Measurements and Main Results: We identified 1,267 CpGs (1,042 genes) differentially methylated (false discovery rate, \u3c0.025) in relation to FEV1, FVC, or FEV1/FVC, including 1,240 novel and 73 also related to chronic obstructive pulmonary disease (1,787 cases). We found 294 CpGs unique to European or African ancestry and 395 CpGs unique to never or ever smokers. The majority of significant CpGs correlated with nearby gene expression in blood. Findings were enriched in key regulatory elements for gene function, including accessible chromatin elements, in both blood and lung. Sixty-nine implicated genes are targets of investigational or approved drugs. One example novel gene highlighted by integrative epigenomic and druggable target analysis is TNFRSF4. Mendelian randomization and colocalization analyses suggest that epigenome-wide association study signals capture causal regulatory genomic loci. Conclusions: We identified numerous novel loci differentially methylated in relation to pulmonary function; few were detected in large genome-wide association studies. Integrative analyses highlight functional relevance and potential therapeutic targets. This comprehensive discovery of potentially modifiable, novel lung function loci expands knowledge gained from genetic studies, providing insights into lung pathogenesis

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (&gt;60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS‐like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or “DTRs”). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype–phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population