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Contact dermatitis is one of the most common occupational diseases, with serious impact on quality of life, lost days at work and a condition that may be chronically relapsing. Regular prophylactic skin cream application is widely acknowledged to be an effective prevention strategy against occupational contact dermatitis; however, compliance rates remain low. To present a simple programme for skin cream application in the workplace with focus on implementation to drive down the rate of occupational irritant contact dermatitis, an expert panel of eight international dermatologists combined personal experience with extensive literature review. The recommendations are based on clinical experience as supported by evidence-based data from interventional studies. The authors identified three moments for skin cream application in the work place: (i) before starting a work period; (ii) after washing hands; and (iii) after work. Affecting behaviour change requires systematic communications, monitoring and reporting, which is proposed through Kotter's principles of organizational change management. Measurement tools are provided in the appendix. Interventional data based on application of this proposal is required to demonstrate its effectiveness.

ABSTRACT: Objective: To evaluate the impact of the COVID-19 pandemic on the psychosocial functioning of individuals with cleft lip and/or palate (CL/P). Methods: Patients with CL/P ≥ 6 years old were prospectively recruited from the Cleft and Craniofacial Clinic of a tertiary children's hospital. From July-October 2021, eligible patients (or their parent/guardian) were sent a survey regarding their psychosocial functioning before and after the start of the pandemic. Main Outcome Measure: The difference between prepandemic and intrapandemic patient-reported outcome scores. Results: Thirty-six patients (20 female, age: 15.9 ± 9.8 years) responded. Most had cleft lip and palate (77.8%), responded online (69.4%), interacted remotely via both voice- and video-conferencing (62.9%), and wore masks routinely (77.1%). Similar numbers of patients responded independently (27.8%), responded with the help of a parent/guardian (36.1%), or had a parent/guardian respond on their behalf (36.1%). General social-emotional well-being (p = 0.004, rrb = 0.659) and satisfaction with facial appearance (p = 0.044, rrb = 0.610) significantly improved after the start of the pandemic. Compared to their general intrapandemic social-emotional well-being scores, patients reported higher scores while wearing a mask (rrb = 0.827) and lower scores while interacting remotely (rrb = 0.605), although all were still significantly improved compared to their prepandemic scores (p ≤ 0.010). Patients also reported significant improvement in social functioning while wearing a mask (p = 0.036, rrb = 0.519), whereas they did not when considering their general intrapandemic feelings/experiences (p = 0.269, rrb = 0.211). Conclusion: Patients with CL/P demonstrated significant improvement in overall social-emotional well-being, satisfaction with facial appearance, and social functioning after the start of the COVID-19 pandemic, particularly when wearing a mask.

As an alternative housing approach, self-help housing has been implemented for many years, particularly in developing nations. This study aimed to evaluate the potential of self-help housing as a mitigation strategy for reducing homelessness in South Africa. The focus was on the perception that housing is commonly regarded as a fundamental necessity the government provides, even though beneficiaries ultimately construct their own homes. A qualitative study was conducted using semi-structured interviews with 25 key informants involved in five projects located in the central region of South Africa. The objective was to assess the effectiveness of self-help housing in addressing homelessness, understand beneficiary perceptions, and identify the challenges associated with conventional and non-conventional housing delivery methods. The key findings revealed that while both methods present challenges, beneficiaries preferred self-help housing due to their involvement in the projects, the larger housing units they received, and their overall satisfaction with the outcomes. The study concluded that there is a need to reform self-help housing policies in South Africa to efficiently regulate and support incremental housing initiatives across the country.

Abstract Background Preterm infants often require non-invasive breathing support while their lungs and control of respiration are still developing. Non-invasive neurally adjusted ventilatory assist (NIV-NAVA) is an emerging technology that allows infants to breathe spontaneously while receiving support breaths proportional to their effort. This study describes the first Australian Neonatal Intensive Care Unit (NICU) experience of NIV-NAVA. Methods Retrospective cohort study of infants admitted to a major tertiary NICU between October 2017 and April 2021 supported with NIV-NAVA. Infants were divided into three groups based on the indication to initiate NIV-NAVA (post-extubation; apnoea; escalation). Successful application of NIV-NAVA was based on the need for re-intubation within 48 h of application. Results There were 169 NIV-NAVA episodes in 122 infants (82 post-extubation; 21 apnoea; 66 escalation). The median (range) gestational age at birth was 25 + 5 weeks (23 + 1 to 43 + 3 weeks) and median (range) birthweight was 963 g (365–4320 g). At NIV-NAVA application, mean (SD) age was 17 days (18.2), and median (range) weight was 850 g (501–4310 g). Infants did not require intubation within 48 h in 145/169 (85.2%) episodes [72/82 (87.8%) extubation; 21/21 (100%) apnoea; 52/66 (78.8%) escalation). Conclusion NIV-NAVA was successfully integrated for the three main indications (escalation; post-extubation; apnoea). Prospective clinical trials are still required to establish its effectiveness versus other modes of non-invasive support.

Summary: Despite extensive global research into genetic predisposition for severe COVID-19, knowledge on the role of rare host genetic variants and their relation to other risk factors remains limited. Here, 52 genes with prior etiological evidence were sequenced in 1,772 severe COVID-19 cases and 5,347 population-based controls from Spain/Italy. Rare deleterious TLR7 variants were present in 2.4% of young (

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When faced with the prospect of death, some people would prefer a form of long-term preservation that may allow them to be restored to healthy life in the future, if technology ever develops to the point that this is feasible and humane. Some believe that we may have the capacity to perform this type of experimental preservation today—although it has never been proven—using contemporary methods to preserve the structure of the brain. The idea is that the morphomolecular organization of the brain encodes the information required for psychological properties such as personality and long-term memories. If these structures in the brain can be maintained intact over time, this could theoretically provide a bridge to access restorative technologies in the future. To consider this hypothesis, we first describe possible metrics that can be used to assess structural brain preservation quality. We next explore several possible methods to preserve structural information in the brain, including the traditional cryonics method of cryopreservation, as well as aldehyde-stabilized cryopreservation and fluid preservation. We focus in-depth on fluid preservation, which relies on aldehyde fixation to induce chemical gel formation in a wide set of biomolecules and appears to be a cost-effective method. We describe two theoretical recovery technologies, alongside several of the ethical and legal complexities of brain preservation, all of which will require a prudent approach. We believe contemporary structural brain preservation methods have a non-negligible chance of allowing successful restoration in the future and that this deserves serious research efforts by the scientific community.

Abstract The defining feature of Parkinson disease (PD) and Lewy body dementia (LBD) is the accumulation of alpha-synuclein (Asyn) fibrils in Lewy bodies and Lewy neurites. Here we develop and validate a method to amplify Asyn fibrils extracted from LBD postmortem tissue samples and use solid state nuclear magnetic resonance (SSNMR) studies to determine atomic resolution structure. Amplified LBD Asyn fibrils comprise a mixture of single protofilament and two protofilament fibrils with very low twist. The protofilament fold is highly similar to the fold determined by a recent cryo-electron microscopy study for a minority population of twisted single protofilament fibrils extracted from LBD tissue. These results expand the structural characterization of LBD Asyn fibrils and approaches for studying disease mechanisms, imaging agents and therapeutics targeting Asyn.

Abstract Introduction We sought to determine potential patient reported advantages of the da Vinci single‐port (SP) robotic system for urological procedures compared with the previous model, the da Vinci multiport (MP) system. The SP model utilizes a single 30 to 40 mm incision rather than multiple 5 to 22 mm incisions. This project aims to prospectively investigate the impact of the novel SP system on patient reported cosmetic and psychometric surgical outcomes. Methods We conducted a prospective study of patients who underwent uro‐oncologic surgery by three urologists at the University of Illinois Chicago from April to November 2021. Study participants completed a Patient Scar Assessment Questionnaire 20 and 90 days post‐procedure. The Patient Scar Assessment Questionnaire is a reliable measure of surgical scars that includes five subscales: Appearance, Symptoms, Consciousness, Satisfaction with Appearance, and Satisfaction with Symptoms. Higher scores represented worse reported outcomes. Results On Postoperative Day 20, there were 77 responses (53 SP and 24 MP). Patients receiving SP procedures reported more favourable outcomes in terms of appearance, symptoms, consciousness, and pain medication. On Day 90, there were 37 responses (24 SP and 13 MP). Patients receiving SP procedures reported more favourable outcomes in terms of appearance. No significant differences were seen on Day 90 in terms of pain, medication, symptoms, consciousness, or satisfaction. Conclusions This study demonstrates the superiority of the SP in patient reported cosmetic and pain outcomes on short‐ and long‐term follow‐up after uro‐oncological surgical procedures. Symptomatic and cosmetic advantages are present at the 20 day follow‐up, with better scar appearance being significant 90 days after surgery.

Abstract The quantification of absorbed light is essential for understanding laser-material interactions and melt pool dynamics in order to minimize defects in additively manufactured metal components. The geometry of a vapor depression formed during laser melting is closely related to laser energy absorption. This relationship has been observed by the state-of-the-art in situ high-speed synchrotron X-ray visualization and integrating sphere radiometry. These two techniques create a temporally resolved dataset consisting of vapor depression images and corresponding laser absorptance. In this work, we propose two different approaches to predict instantaneous laser absorptance. The end-to-end approach uses deep convolutional neural networks to learn implicit features of X-ray images automatically and predict the laser energy absorptance. The two-stage approach uses a semantic segmentation model to engineer geometric features and predict absorptance using classical regression models. While having distinct advantages, both approaches achieved a consistently low mean absolute error of less than 3.3%.

A new species of Conosiphon Becker, 1923, Conosiphon ianus Álvarez Fidalgo & van den Broek, sp. nov., is described from Spain, representing the first record of this genus for Europe. It is illustrated in high-resolution photographs and the first ecological information is provided, as well as a key to all species tentatively placed in this genus.

Abstract Donor human milk (DHM) from a milk bank is the recommended feeding method for preterm infants when the mother's own milk (MOM) is not available. Despite this recommendation, information on the possible contamination of donor human milk and its impact on infant health outcomes is poorly characterised. The aim of this systematic review is to assess contaminants present in DHM samples that preterm and critically ill infants consume. The data sources used include PubMed, EMBASE, CINAHL and Web of Science. A search of the data sources targeting DHM and its potential contaminants yielded 426 publications. Two reviewers (S. T. and D. L.) conducted title/abstract screening through Covidence software, and predetermined inclusion/exclusion criteria yielded 26 manuscripts. Contaminant types (bacterial, chemical, fungal, viral) and study details (e.g., type of bacteria identified, study setting) were extracted from each included study during full‐text review. Primary contaminants in donor human milk included bacterial species and environmental pollutants. We found that bacterial contaminants were identified in 100% of the papers in which bacterial contamination was sought (16 papers) and 61.5% of the full data set (26 papers), with the most frequently identified genera being Staphylococcus (e.g., Staphylococcus aureus and coagulase‐negative Staphylococcus) and Bacillus (e.g., Bacillus cereus). Chemical pollutants were discovered in 100% of the papers in which chemical contamination was sought (eight papers) and 30.8% of the full data set (26 papers). The most frequently identified chemical pollutants included perfluoroalkyl substances (six papers), toxic metal (one paper) and caffeine (one paper). Viral and fungal contamination were identified in one paper each. Our results highlight the importance of establishing standardisation in assessing DHM contamination and future studies are needed to clarify the impact of DHM contaminants on health outcomes.

Tomato (Solanum lycopersicum) is an important vegetable crop and a valuable source of nutrients for the human diet. The southeast is the main fresh market tomato producer of the United States, with much of the production concentrated in Florida. However, production in this region is threatened by plant diseases such as target spot of tomato (TS) caused by Corynespora cassiicola, a multitrophic fungus widely distributed in tropical and subtropical areas. TS can infect foliage and fruit, often resulting in significant yield losses in conductive environments. There are no known TS-resistant cultivars, and control relies entirely on fungicidal sprays. However, several studies have demonstrated that the fungus is developing resistance to commonly used fungicides which further complicates disease management. The objective of this work was to identify sources of resistance to TS from wild Solanum accessions. Initial screens of 83 accessions informed the selection of 24 accessions for a more robust screening in which six diverse C. cassiicola isolates were used for single-isolate inoculation experiments. The results from a broad-sense mixed-model analysis including data from all six experiments demonstrated that all 24 accessions had significantly lower disease severities compared with the susceptible controls, suggesting that all accessions potentially harbor resistance quantitative trait loci (QTLs). Solanum cheesmaniae accession LA0524, S. galapagense accessions LA0483 and LA0532, and S. pimpinellifolium accession LA2093 were among the most resistant accessions tested and may be particularly useful for introgression of resistance into cultivated germplasm and for mapping of TS resistance QTLs.

Abstract A dataset to describe exposed bedrock and surficial geology of Antarctica has been constructed by the GeoMAP Action Group of the Scientific Committee on Antarctic Research (SCAR) and GNS Science. Our group captured existing geological map data into a geographic information system (GIS), refined its spatial reliability, harmonised classification, and improved representation of glacial sequences and geomorphology, thereby creating a comprehensive and coherent representation of Antarctic geology. A total of 99,080 polygons were unified for depicting geology at 1:250,000 scale, but locally there are some areas with higher spatial resolution. Geological unit definition is based on a mixed chronostratigraphic- and lithostratigraphic-based classification. Description of rock and moraine polygons employs the international Geoscience Markup Language (GeoSciML) data protocols to provide attribute-rich and queryable information, including bibliographic links to 589 source maps and scientific literature. GeoMAP is the first detailed geological map dataset covering all of Antarctica. It depicts ‘known geology’ of rock exposures rather than ‘interpreted’ sub-ice features and is suitable for continent-wide perspectives and cross-discipline interrogation.

Abstract Background The growing urban population imposes additional challenges for health systems in low- and middle-income countries (LMICs). We explored the economic burden and inequities in healthcare utilisation across slum, non-slum and levels of wealth among urban residents in LMICs. Methods This scoping review presents a narrative synthesis and descriptive analysis of studies conducted in urban areas of LMICs. We categorised studies as conducted only in slums, city-wide studies with measures of wealth and conducted in both slums and non-slums settlements. We estimated the mean costs of accessing healthcare, the incidence of catastrophic health expenditures (CHE) and the progressiveness and equity of health expenditures. The definitions of slums used in the studies were mapped against the 2018 UN-Habitat definition. We developed an evidence map to identify research gaps on the economics of healthcare access in LMICs. Results We identified 64 studies for inclusion, the majority of which were from South-East Asia (59%) and classified as city-wide (58%). We found severe economic burden across health conditions, wealth quintiles and study types. Compared with city-wide studies, slum studies reported higher direct costs of accessing health care for acute conditions and lower costs for chronic and unspecified health conditions. Healthcare expenditures for chronic conditions were highest amongst the richest wealth quintiles for slum studies and more equally distributed across all wealth quintiles for city-wide studies. The incidence of CHE was similar across all wealth quintiles in slum studies and concentrated among the poorest residents in city-wide studies. None of the definitions of slums used covered all characteristics proposed by UN-Habitat. The evidence map showed that city-wide studies, studies conducted in India and studies on unspecified health conditions dominated the current evidence on the economics of healthcare access. Most of the evidence was classified as poor quality. Conclusions Our findings indicated that city-wide and slums residents have different expenditure patterns when accessing healthcare. Financial protection schemes must consider the complexity of healthcare provision in the urban context. Further research is needed to understand the causes of inequities in healthcare expenditure in rapidly expanding and evolving cities in LMICs.

BACKGROUND: There is a dearth of literature evaluating the accuracy of Air Displacement Plethysmography (ADP) compared to Dual-energy X-ray Absorptiometry (DXA) for assessing body composition in individuals with lower limb amputations. Validity of ADP in persons with lower limb amputations must be established. OBJECTIVE: The objective of this study was to compare body composition in persons with lower limb amputations using the BOD POD® and DXA. METHODOLOGY: Body composition was performed on eleven lower limb prosthesis users (age 53.2±14.3 years, weight 81.9±22.3kg) using ADP and DXA with and without prosthesis. FINDINGS: Repeated measures ANOVA indicated no significant difference in body composition among and between trials, F(3,8)= 3.36, p= 0.075. There were no significant differences in Body Fat (BF) percentage with and without prostheses on the BOD POD (28.5±15.7% and 33.7±12.1%, respectively) nor the DXA (32.9±10.6% and 32.0±9.9%, respectively). Association between the BOD POD and DXA were greatest when prostheses were not worn compared to when they were worn. Bland-Altman plots indicate agreement between BOD POD® and DXA was greatest while wearing the prosthesis. CONCLUSION: This study is a first to compare total body fat percent between the BOD POD® and DXA in lower limb prosthesis users. BOD POD® report valid indices of BF%. Future work will utilize the BOD POD® in intervention studies for monitoring body composition changes across the continuum of rehabilitation. Layman's Abstract Measurement of body composition is helpful in understanding the health of persons with lower limb prosthesis. The gold standard method of body composition assessment is through Dual-energy X-ray Absorptiometry (DXA). This method can be costly and is less economical than Air Displacement Plethysmography (ADP). The aim of this research was to explore the accuracy of the ADP using a BOD POD® instrument in lower limb prosthesis wearers. Body composition measurements using the BOD POD® and DXA were administered. Assessments were performed while wearing and not wearing the prosthesis. Results indicate that no differences between the two body composition assessment methods either with or without prosthesis. The less costly ADP technology may be utilized for body composition in lower limb prosthesis users. Article PDF Link: https://jps.library.utoronto.ca/index.php/cpoj/article/view/41605/32165 How To Cite: Smith JD, Guerra G, Symons TB, Kwon EH, Yoon EJ. Comparison of body composition methods for estimating body fat percentage in lower limb prosthesis users. Canadian Prosthetics & Orthotics Journal. 2023; Volume 6, Issue 1, No.2. https://doi.org/10.33137/cpoj.v6i1.41605 Corresponding Author: Gary Guerra, PhD Department of Exercise and Sport Science, St. Mary’s University, San Antonio, Texas, USA. E-Mail: gguerra5@stmarytx.edu ORCID ID: https://orcid.org/0000-0002-0161-4616

Developmental exposure to ethanol is a leading cause of cognitive, emotional and behavioral problems, with fetal alcohol spectrum disorder (FASD) affecting more than 1:100 children. Recently, comorbid sleep deficits have been highlighted in these disorders, with sleep repair a potential therapeutic target. Animal models of FASD have shown non-REM (NREM) sleep fragmentation and slow-wave oscillation impairments that predict cognitive performance. Here we use a mouse model of perinatal ethanol exposure to explore whether reduced sleep pressure may contribute to impaired NREM sleep, and compare the function of a brain network reported to be impacted by insomnia–the Salience network–in developmental ethanol-exposed mice with sleep-deprived, saline controls. Mice were exposed to ethanol or saline on postnatal day 7 (P7) and allowed to mature to adulthood for testing. At P90, telemetered cortical recordings were made for assessment of NREM sleep in home cage before and after 4 h of sleep deprivation to assess basal NREM sleep and homeostatic NREM sleep response. To assess Salience network functional connectivity, mice were exposed to the 4 h sleep deprivation period or left alone, then immediately sacrificed for immunohistochemical analysis of c-Fos expression. The results show that developmental ethanol severely impairs both normal rebound NREM sleep and sleep deprivation induced increases in slow-wave activity, consistent with reduced sleep pressure. Furthermore, the Salience network connectome in rested, ethanol-exposed mice was most similar to that of sleep-deprived, saline control mice, suggesting a sleep deprivation-like state of Salience network function after developmental ethanol even without sleep deprivation.

OBJECTIVES ChatGPT is an artificial intelligence model that can interpret free-text prompts and return detailed, human-like responses across a wide domain of subjects. This study evaluated the extent of the threat posed by ChatGPT to the validity of short-answer assessment problems used to examine pre-clerkship medical students in our undergraduate medical education program. METHODS Forty problems used in prior student assessments were retrieved and stratified by levels of Bloom's Taxonomy. Thirty of these problems were submitted to ChatGPT-3.5. For the remaining 10 problems, we retrieved past minimally passing student responses. Six tutors graded each of the 40 responses. Comparison of performance between student-generated and ChatGPT-generated answers aggregated as a whole and grouped by Bloom's levels of cognitive reasoning, was done using t-tests, ANOVA, Cronbach's alpha, and Cohen's d. Scores for ChatGPT-generated responses were also compared to historical class average performance. RESULTS ChatGPT-generated responses received a mean score of 3.29 out of 5 (n = 30, 95% CI 2.93-3.65) compared to 2.38 for a group of students meeting minimum passing marks (n = 10, 95% CI 1.94-2.82), representing higher performance ( P = .008, η 2 = 0.169), but was outperformed by historical class average scores on the same 30 problems (mean 3.67, P = .018) when including all past responses regardless of student performance level. There was no statistically significant trend in performance across domains of Bloom's Taxonomy. CONCLUSION While ChatGPT was able to pass short answer assessment problems spanning the pre-clerkship curriculum, it outperformed only underperforming students. We remark that tutors in several cases were convinced that ChatGPT-produced responses were produced by students. Risks to assessment validity include uncertainty in identifying struggling students and inability to intervene in a timely manner. The performance of ChatGPT on problems requiring increasing demands of cognitive reasoning warrants further research.

The Canadian Food Inspection Agency (CFIA) is developing an establishment-based risk assessment model to categorize rendering plants that produce livestock feed ingredients (ERA-Renderer model) according to animal and human health risks (i.e., feed safety risks) and help in determining the allocation of inspection resources based on risk. The aim of the present study was to identify and select feed-safety-related factors and assessment criteria for inclusion in the ERA-Renderer model. First, a literature review was performed to identify evidence-based factors that impact the feed safety risk of livestock feed during its rendering processes. Secondly, a refinement process was applied to retain only those that met the inclusion conditions, such as data availability, lack of ambiguity, and measurability. Finally, an expert panel helped in selecting factors and assessment criteria based on their knowledge and experience in the rendering industry. A final list of 32 factors was developed, of which 4 pertained to the inherent risk of a rendering plant, 8 were related to risk mitigation strategies, and 20 referred to the regulatory compliance of a rendering plant. A total of 179 criteria were defined to assess factors based on practices in the Canadian rendering industry. The results of this study will be used in the next step of the model development to estimate the relative risks of the assessment criteria considering their impact on feed safety. Once implemented, the CFIA’s ERA-Renderer model will provide an evidence-based, standardized, and transparent approach to help manage the feed safety risks in Canada’s rendering sector.

Abstract Background Neurally adjusted ventilatory assist is an emerging mode of respiratory support that uses the electrical activity of the diaphragm (Edi) to provide synchronised inspiratory pressure support, proportional to an infant’s changing inspiratory effort. Data on Edi reference values for neonates are limited. The objective of this study was to establish reference Edi values for preterm and term neonates who are not receiving respiratory support. Methods This was a prospective observational study of newborn infants breathing spontaneously in room air. The Edi waveform was monitored by a specialised naso/orogastric feeding tube with embedded electrodes positioned at the level of the diaphragm. Edi minimums and peaks were recorded continuously for 4 h without changes to routine clinical handling. Results Twenty-four newborn infants (16 preterm [

Abstract Background To help resolve high suicide rates in Bristol, North Somerset and South Gloucestershire, the charity Second Step was commissioned to roll-out the Hope service offering a psychosocial intervention for men, supporting them through acute distress and addressing financial difficulties. This study evaluated the impact of the Hope service on men at risk of suicide experiencing financial and other difficulties. Methods Mixed methods study using: (i) a prospective cohort study design to compare depression, suicidal ideation and financial self-efficacy scores of men aged 30–64, referred to the service between October 2018 and July 2020, at baseline and 6 months follow-up and between low and moderate to high-intensity service users; and (ii) a qualitative interview study to evaluate the acceptability and impact of the Hope service to Hope service users. Results There was a 49% reduction in depression score (mean reduction − 10.0, 95% CI − 11.7 to − 8.3) and in the proportion of service users with suicidal ideation (percent reduction − 52.5, 95% CI − 64.1% to − 40.9%) at 6 months follow-up compared to baseline. Financial self-efficacy scores increased by 26% (mean increase 2.9, 95% CI 1.8 to 3.9). Qualitative accounts illustrated how ‘Hope saved my life’ for several men interviewed; most respondents described being able to move forward and tackle challenges with more confidence following the Hope intervention. Professional advice to tackle financial and other difficulties such as housing helped to relieve anxiety and stress and enable practical issues to be resolved. Conclusions The Hope service offered practical and emotional support to men who have experienced suicidal feelings, redundancy, homelessness and poverty and occupies an important space between mental health and social care provision. Hope demonstrates the value of an intervention which cuts across traditional boundaries between psychiatric care and social advice agencies to provide, what is, in effect, an integrated care service.

Syrphid flies are important ecological indicators and provide crucial ecosystem services, being important pollinators and biological control agents of insect pests. These charismatic insects are conspicuous and, due to their size and colourful patterns, are relatively easy to identify. However, the lack of user-friendly literature (e.g. photographic guides) for most areas may hamper its wider selection as a study group in biodiversity and ecological studies. The syrphid fauna of Madeira Archipelago comprises 26 species, including four endemics (Eumerus hispidus Smit, Aguiar & Wakeham-Dawson, 2004; Melanostoma wollastoni Wakeham-Dawson, Aguiar, Smit, McCullough & Wyatt, 2004; Myathropa usta, Wollaston, 1858 and Xanthandrus babyssa, Walker, 1849), but, despite the current good taxonomic knowledge on this group, information on species distribution, ecology and conservation is still lacking. Here, we provide a pictorial key to the adult hoverflies of Madeira Archipelago highlighting diagnostic characteristics and present photographs of both males and females (in dorsal and lateral views) in colour plates. The key and plates will help researchers to differentiate these species, thus encouraging the use of this insect group in future bioindication studies. In addition, this study also aims to engage a broader audience of non-experts in improving the knowledge on the distribution and ecology of Madeira syrphids.We provide a checklist for the hoverflies of Madeira Archipelago and a pictorial key to help on species identification.

Abstract Cardiomyopathy (CMP) is a heritable disorder. Over 50% of cases are gene-elusive on clinical gene panel testing. The contribution of variants in non-coding DNA elements that result in cryptic splicing and regulate gene expression has not been explored. We analyzed whole-genome sequencing (WGS) data in a discovery cohort of 209 pediatric CMP patients and 1953 independent replication genomes and exomes. We searched for protein-coding variants, and non-coding variants predicted to affect the function or expression of genes. Thirty-nine percent of cases harbored pathogenic coding variants in known CMP genes, and 5% harbored high-risk loss-of-function (LoF) variants in additional candidate CMP genes. Fifteen percent harbored high-risk regulatory variants in promoters and enhancers of CMP genes (odds ratio 2.25, p = 6.70 × 10−7 versus controls). Genes involved in α-dystroglycan glycosylation (FKTN, DTNA) and desmosomal signaling (DSC2, DSG2) were most highly enriched for regulatory variants (odds ratio 6.7–58.1). Functional effects were confirmed in patient myocardium and reporter assays in human cardiomyocytes, and in zebrafish CRISPR knockouts. We provide strong evidence for the genomic contribution of functionally active variants in new genes and in regulatory elements of known CMP genes to early onset CMP.

Measuring fine-grained physical interaction between the human player and the musical instrument can significantly improve our understanding of music performance. This article presents a Musical Instrument Performance Capture and Analysis Toolbox (MIPCAT) that can be used to capture and to process the physical control variables used by a musician while performing music. This includes both a measurement apparatus with sensors and a software toolbox for analysis. Several of the components used here can also be applied in other musical contexts. The system is here applied to the clarinet, where the instrument sensors record blowing pressure, reed position, tongue contact, and sound pressures in the mouth, mouthpiece, and barrel. Radiated sound and multiple videos are also recorded to allow details of the embouchure and the instrument’s motion to be determined. The software toolbox can synchronise measurements from different devices, including video sources, extract time-variable descriptors, segment by notes and excerpts, and summarise descriptors per note, phrase, or excerpt. An example of its application shows how to compare performances from different musicians.