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Human genetic syndromes are often challenging to diagnose clinically. Facial phenotype is a key diagnostic indicator for hundreds of genetic syndromes and computer-assisted facial phenotyping is a promising approach to assist diagnosis. Most previous approaches to automated face-based syndrome diagnosis have analyzed different datasets of either 2D images or surface mesh-based 3D facial representations, making direct comparisons of performance challenging. In this work, we developed a set of subject-matched 2D and 3D facial representations, which we then analyzed with the aim of comparing the performance of 2D and 3D image-based approaches to computer-assisted syndrome diagnosis. This work represents the most comprehensive subject-matched analyses to date on this topic. In our analyses of 1907 subject faces representing 43 different genetic syndromes, 3D surface-based syndrome classification models significantly outperformed 2D image-based models trained and evaluated on the same subject faces. These results suggest that the clinical adoption of 3D facial scanning technology and continued collection of syndromic 3D facial scan data may substantially improve face-based syndrome diagnosis.

Continued advances in precision medicine rely on the widespread sharing of data that relate human genetic variation to disease. However, data sharing is severely limited by legal, regulatory, and ethical restrictions that safeguard patient privacy. Federated analysis addresses this problem by transferring the code to the data-providing the technical and legal capability to analyze the data within their secure home environment rather than transferring the data to another institution for analysis. This allows researchers to gain new insights from data that cannot be moved, while respecting patient privacy and the data stewards' legal obligations. Because federated analysis is a technical solution to the legal challenges inherent in data sharing, the technology and policy implications must be evaluated together. Here, we summarize the technical approaches to federated analysis and provide a legal analysis of their policy implications.

The present study analyzes the representation of the anomaly in Oscar de profundis by Catherine Mavrikakis. This inexplicable event is paradoxically ever-present and completely absent in end of world literature. In particular, we will examine the role of ruins in the portrayal of the post-catastrophe scenario. This paper argues that the anomaly invites the reader to investigate further. However, they will only find ruins which are a constant reminder of what was lost and not an explanation of how these memories were erased from the collective conscience. The concept of depicting the anomaly through ruins will allow us to better understand how end of world literature may propose a critique of contemporary society.

The effectiveness of academic coaching at a mid-sized public university was evaluated for the spring 2020 semester by examining the change in academic performance and retention to the fall 2020 semester. Coaching effectiveness was evaluated across three different groups of undergraduate students. Two of the groups were academic recovery programs and one was comprised of students in good standing. Student data from the Office of Institutional Research (OIR) was analyzed for coached students and non-coached students using an ex-post-facto, quasi-experimental design. Results indicated that coached students in good academic standing had a significant increase in cumulative GPA of 0.12 from pre to post semester. For academically at-risk students in the two academic recovery programs, Freshman Grade Point Recovery and Summit, the results showed a significant increase of 0.55 and 0.54 in cumulative GPA respectively, and a significant increase of 0.42 and 0.89 in term GPA compared to matched non-coached groups respectively. Retention rates to the fall 2020 semester were higher for all coached students compared to matched non-coached groups.

Abstract Background Cardiovascular disease (CVD) is the leading cause of death worldwide. It has been known for some considerable time that radiation is associated with excess risk of CVD. A recent systematic review of radiation and CVD highlighted substantial inter-study heterogeneity in effect, possibly a result of confounding or modifications of radiation effect by non-radiation factors, in particular by the major lifestyle/environmental/medical risk factors and latent period. Methods We assessed effects of confounding by lifestyle/environmental/medical risk factors on radiation-associated CVD and investigated evidence for modifying effects of these variables on CVD radiation dose–response, using data assembled for a recent systematic review. Results There are 43 epidemiologic studies which are informative on effects of adjustment for confounding or risk modifying factors on radiation-associated CVD. Of these 22 were studies of groups exposed to substantial doses of medical radiation for therapy or diagnosis. The remaining 21 studies were of groups exposed at much lower levels of dose and/or dose rate. Only four studies suggest substantial effects of adjustment for lifestyle/environmental/medical risk factors on radiation risk of CVD; however, there were also substantial uncertainties in the estimates in all of these studies. There are fewer suggestions of effects that modify the radiation dose response; only two studies, both at lower levels of dose, report the most serious level of modifying effect. Conclusions There are still large uncertainties about confounding factors or lifestyle/environmental/medical variables that may influence radiation-associated CVD, although indications are that there are not many studies in which there are substantial confounding effects of these risk factors.

Jacklyn D Foley,1,2 Lauren B Bernier,1,3 Stephanie Schiavo,4 Madison J Davis,1 Abigail W Batchelder1,2,5 1Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA; 2Department of Psychiatry, Harvard Medical School, Boston, MA, USA; 3Department of Psychological and Brain Studies, Boston University, Boston, MA, USA; 4Department of Applied Psychology, Northeastern University, Boston, MA, USA; 5Department of Psychiatry, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USACorrespondence: Jacklyn D Foley, Email jdfoley@mgh.harvard.eduAbstract: In the era of expanded access to effective antiretroviral therapy (ART), the life expectancy of the estimated 1.2 million people with HIV (PWH) in the United States has significantly increased. There is a timely need to develop and evaluate interventions for older PWH to improve their health and functioning. The primary objective of the present work was to describe the pilot trial methodology that aimed to evaluate the feasibility and acceptability of a transdiagnostic cognitive behavioral therapy (CBT) intervention for HIV and Symptom Management – “CHAMP” designed to promote healthy aging by way of decreasing psychological distress, health risk behaviors, and inflammation among older PWH. Ultimately, these data will be used to refine the intervention and study methods, and inform a future efficacy trial.Keywords: aging, HIV, cognitive behavioral therapy, clinical trials methodology

Ovarian transposition (OT) has been proposed as a protective measure against radiation-induced damage to ovarian function and fertility. Despite its historical use, limited research has focused on evaluating endocrine and exocrine ovarian function after OT performed in adolescents and young adults (AYAs) before or during puberty. The purpose of our study was to investigate the fertility, pubertal development, and ovarian function of women with a previous history of OT during childhood, adolescence or young adulthood. In an observational bicentric retrospective study, we included 32 young female cancer patients who underwent OT before the age of 26 between 1990 and 2015 at Lyon Léon Bérard Cancer Center or Nancy University Hospital. The mean age at the time of OT was 15.6 years with a cancer diagnosis at 15 ± 4.8 years. Among the 10 women attempting pregnancy post-treatment, 60% achieved successful pregnancies. After a mean follow-up of 9.6 ± 7 years, 74% (17 out of 23) of women recovered spontaneous menstrual cycles (seven out of eight evaluable women with OT before or during puberty). Notably, 35% of women who did not attempt pregnancy demonstrated adequate ovarian reserve. Ovarian reserve and function recovery were influenced by the specific chemotherapy received. Importantly, our findings suggest that OT’s effectiveness on ovarian activity resumption does not significantly differ when performed before or during puberty compared to pubertal stages. This study contributes valuable insights into the long-term reproductive outcomes of young women undergoing OT, emphasizing its potential efficacy in preserving ovarian function and fertility across different developmental stages.

Abstract Myriad policy, ethical and legal considerations underpin the sharing of biological resources, implying the need for standardised and yet flexible ways to digitally represent diverse ‘use conditions’. We report a core lexicon of terms that are atomic, non-directional ‘concepts of use’, called Common Conditions of use Elements. This work engaged biobanks and registries relevant to the European Joint Programme for Rare Diseases and aimed to produce a lexicon that would have generalised utility. Seventy-six concepts were initially identified from diverse real-world settings, and via iterative rounds of deliberation and user-testing these were optimised and condensed down to 20 items. To validate utility, support software and training information was provided to biobanks and registries who were asked to create Sharing Policy Profiles. This succeeded and involved adding standardised directionality and scope annotations to the employed terms. The addition of free-text parameters was also explored. The approach is now being adopted by several real-world projects, enabling this standard to evolve progressively into a universal basis for representing and managing conditions of use.

Abstract Improving patient care and advancing scientific discovery requires responsible sharing of research data, healthcare records, biosamples, and biomedical resources that must also respect applicable use conditions. Defining a standard to structure and manage these use conditions is a complex and challenging task. This is exemplified by a near unlimited range of asset types, a high variability of applicable conditions, and differing applications at the individual or collective level. Furthermore, the specifics and granularity required are likely to vary depending on the ultimate contexts of use. All these factors confound alignment of institutional missions, funding objectives, regulatory and technical requirements to facilitate effective sharing. The presented work highlights the complexity and diversity of the problem, reviews the current state of the art, and emphasises the need for a flexible and adaptable approach. We propose Digital Use Conditions (DUC) as a framework that addresses these needs by leveraging existing standards, striking a balance between expressiveness versus ambiguity, and considering the breadth of applicable information with their context of use.

Abstract Background Most children with Autism Spectrum Disorder (ASD) have co-occurring language impairments and some of these autism-specific language difficulties are also present in their non-autistic first-degree relatives. One of the possible neural mechanisms associated with variability in language functioning is alterations in cortical gamma-band oscillations, hypothesized to be related to neural excitation and inhibition balance. Methods We used a high-density 128-channel electroencephalography (EEG) to register brain response to speech stimuli in a large sex-balanced sample of participants: 125 youth with ASD, 121 typically developing (TD) youth, and 40 unaffected siblings (US) of youth with ASD. Language skills were assessed with Clinical Evaluation of Language Fundamentals. Results First, during speech processing, we identified significantly elevated gamma power in ASD participants compared to TD controls. Second, across all youth, higher gamma power was associated with lower language skills. Finally, the US group demonstrated an intermediate profile in both language and gamma power, with nonverbal IQ mediating the relationship between gamma power and language skills. Limitations We only focused on one of the possible neural contributors to variability in language functioning. Also, the US group consisted of a smaller number of participants in comparison to the ASD or TD groups. Finally, due to the timing issue in EEG system we have provided only non-phase-locked analysis. Conclusions Autistic youth showed elevated gamma power, suggesting higher excitation in the brain in response to speech stimuli and elevated gamma power was related to lower language skills. The US group showed an intermediate pattern of gamma activity, suggesting that the broader autism phenotype extends to neural profiles.

ABSTRACT: There are limited data available regarding pathogens causing intramammary infections (IMI) in Jersey cows. The objectives of this study were to characterize the prevalence of IMI caused by different microorganisms in lactating Jersey cattle and evaluate the associations among microbes and somatic cell count (SCC) and persistence of IMI. This prospective, observational, longitudinal study included lactating Jersey cows (n = 753) from 4 farms within a 415 km radius of Columbia, Missouri. Quarter foremilk samples were aseptically collected monthly for 3 consecutive months. Microorganisms were identified using aerobic milk culture and MALDI-TOF mass spectrometry. A commercial laboratory measured SCC using flow cytometry. Milk culture results were used to classify single microorganism infections as persistent (same microorganism species identified at first sampling and one other sampling) or nonpersistent infection. Mixed models were built to evaluate the associations between IMI status and SCC natural logarithm (lnSCC), as well as persistence and lnSCC. Overall, staphylococci were the most commonly isolated microorganisms among the 7,370 quarter-level milk samples collected. Median prevalence (using all 3 samplings) of specific microbes varied among farms; however, Staphylococcus chromogenes was a common species found at all farms. The most common microbial species that persisted were Staph. chromogenes, Staphylococcus aureus, Staphylococcus simulans, and Streptococcus uberis. Streptococcus dysgalactiae and Staph. aureus were the IMI associated with the most inflammation based on lnSCC. The small number of herds included in this study with the large variation in herd type limits the generalizability of the data. However, results of this study seem to be similar to those of previous studies in other breeds, suggesting management factors are more important than breed-specific differences when evaluating causes of IMI and associated subclinical mastitis.

Objectif : Explorer les connaissances sur les interventions de promotion de la résilience chez les adolescents atteints de cancer en traitement actif. La question ici utilisée pour guider la recherche est : De quelles façons les infirmières peuvent-elles promouvoir la résilience chez les adolescents atteints de cancer en traitement actif? Introduction : L’adolescence est une période de forte turbulence développementale (Young, 2014). Le diagnostic d’une maladie oncologique contribue à la détresse et diminue la qualité de vie (Sodergren et al., 2017). Certains adolescents semblent cependant développer des mécanismes d’adaptation positifs générant une plus grande résilience (Bellizzi et al., 2012; Sodergren et al., 2017). Les infirmières sont amenées à accompagner ces adolescents parfois sur de longues périodes et peuvent donc être des actrices clés dans le soutien à la résilience auprès de cette clientèle. Méthode : Nous avons cherché en anglais et en français dans trois bases de données (CINAHL, PubMed, PsycArticles) en février 2023 en utilisant des limitateurs (2013-2023; adolescents). La sélection des sources potentielles a été réalisée sur la base de l’étude de Pollock et collaborateurs (2021). L’extraction, l’analyse et la présentation des données ont été effectuées en respectant la structure proposée par le JBI Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews checklist (Tricco et al., 2018). Les données extraites ont été classées dans l’un des facteurs (de protection ou de risque) du Resilience in Illness Model (RIM) en utilisant une méthode déductive (Haase et al., 2014, 2017). Nous avons finalement extrapolé de possibles interventions dans lesquelles l’approche infirmière pourrait contribuer à la résilience des adolescents atteints de cancer en traitement actif. Résultats : La méthode utilisée a permis de retracer 86 articles, dont 17 répondaient aux critères de sélection. De ce nombre, 10 étaient de nature quantitative; 3, de nature qualitative; 3, de nature théorique (incluant les revues de littérature et méta-analyse) et 1 de nature éditoriale. La majorité (n = 15) de ces articles proviennent des États-Unis. Depuis 2013, aucune étude ne s’est spécifiquement intéressée au rôle et aux interventions infirmières dans la promotion de la résilience auprès des adolescents atteints de cancer en traitement actif. Conclusions : En fonction des résultats de cette étude et considérant que d’autres études existent sur le rôle de l’infirmière chez les adolescents atteints de maladie chronique non oncologique, nous estimons que l’infirmière œuvrant en oncologie pédiatrique peut être une actrice clé auprès de cette population en ce qui concerne la promotion de la résilience. Les recherches portant sur ce domaine spécifique s’avéreraient prometteuses afin de soutenir efficacement l’adaptation et la résilience chez les adolescents atteints de cancer en traitement actif.

Objective: Explore knowledge on resilience-promoting interventions among adolescents receiving active cancer treatment. The question used to guide the research was: How can nurses promote resilience among adolescents receiving active cancer treatment? Introduction: Adolescence is a very turbulent stage of development (Young, 2014). A cancer diagnosis at this age contributes to emotional distress and reduces quality of life (Sodergren et al., 2017). However, some youth develop positive coping mechanisms that lead to increased resilience (Bellizzi et al., 2012; Sodergren et al., 2017). Because nurses often care for these patients over an extended period of time, they can play an important role in fostering this resilience. Method: Three databases (CINAHL, PubMed and PsycArticles) were consulted in February 2023, using research limiters “2013–2023” and “adolescents” (teenagers) both in French and in English. Potentially relevant sources were selected based on the guidelines identified by Pollock et al., (2021). Data were extracted, analyzed and presented using the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews checklist (Tricco et al., 2018). The results were categorized, using deductive reasoning, as either protective factors or risk factors, in line with the Resilience in Illness Model (RIM; (Haase et al., 2014, 2017). Finally, potential interventions were identified where nurses can foster resilience among adolescents actively undergoing cancer treatment. Results: The method used returned 86 studies, 17 of which met the selection criteria. Of these, 10 were quantitative in nature, three were qualitative, three were theoretical (including literature reviews and meta-analyses) and one was an editorial. The majority (n = 15) were published in the United States. There have been no studies specifically examining the role of nurses in promoting resilience among adolescents undergoing active cancer treatment since 2013. Conclusion: Based on the findings of this paper, considering that information has been published on the role nurses serve in caring for adolescents who have a chronic illness other than cancer, the conclusion is that pediatric oncology nurses can be key players in promoting resilience among patients at this stage of development. Studies focusing specifically on this topic would be useful in determining how to facilitate adaptation and foster resilience effectively among adolescents receiving active cancer treatment.

To manage Earth in the Anthropocene, new tools, new institutions, and new forms of international cooperation will be required. Earth Virtualization Engines is proposed as an international federation of centers of excellence to empower all people to respond to the immense and urgent challenges posed by climate change.

Abstract Background Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice. In this paper, we evaluate behavioral features within three gene groups associated with ID and ASD – ADNP, CHD8, and DYRK1A – with two aims: (1) characterize phenotypes across behavioral domains of anxiety, depression, ADHD, and challenging behavior; and (2) understand whether age and early developmental milestones are associated with later mental health outcomes. Methods Phenotypic data were obtained for youth with disruptive variants in ADNP, CHD8, or DYRK1A (N = 65, mean age = 8.7 years, 40% female) within a long-running, genetics-first study. Standardized caregiver-report measures of mental health features (anxiety, depression, attention-deficit/hyperactivity, oppositional behavior) and developmental history were extracted and analyzed for effects of gene group, age, and early developmental milestones on mental health features. Results Patterns of mental health features varied by group, with anxiety most prominent for CHD8, oppositional features overrepresented among ADNP, and attentional and depressive features most prominent for DYRK1A. For the full sample, age was positively associated with anxiety features, such that elevations in anxiety relative to same-age and same-sex peers may worsen with increasing age. Predictive utility of early developmental milestones was limited, with evidence of early language delays predicting greater difficulties across behavioral domains only for the CHD8 group. Conclusions Despite shared associations with autism and intellectual disability, disruptive variants in ADNP, CHD8, and DYRK1A may yield variable psychiatric phenotypes among children and adolescents. With replication in larger samples over time, efforts such as these may contribute to improved clinical care for affected children and adolescents, allow for earlier identification of emerging mental health difficulties, and promote early intervention to alleviate concerns and improve quality of life.

Abstract A novel methylation class, “neuroepithelial tumor, with PLAGL1 fusion” (NET-PLAGL1), has recently been described, based on epigenetic features, as a supratentorial pediatric brain tumor with recurrent histopathological features suggesting an ependymal differentiation. Because of the recent identification of this neoplastic entity, few histopathological, radiological and clinical data are available. Herein, we present a detailed series of nine cases of PLAGL1-fused supratentorial tumors, reclassified from a series of supratentorial ependymomas, non-ZFTA/non-YAP1 fusion-positive and subependymomas of the young. This study included extensive clinical, radiological, histopathological, ultrastructural, immunohistochemical, genetic and epigenetic (DNA methylation profiling) data for characterization. An important aim of this work was to evaluate the sensitivity and specificity of a novel fluorescent in situ hybridization (FISH) targeting the PLAGL1 gene. Using histopathology, immunohistochemistry and electron microscopy, we confirmed the ependymal differentiation of this new neoplastic entity. Indeed, the cases histopathologically presented as “mixed subependymomas-ependymomas” with well-circumscribed tumors exhibiting a diffuse immunoreactivity for GFAP, without expression of Olig2 or SOX10. Ultrastructurally, they also harbored features reminiscent of ependymal differentiation, such as cilia. Different gene partners were fused with PLAGL1: FOXO1, EWSR1 and for the first time MAML2. The PLAGL1 FISH presented a 100% sensitivity and specificity according to RNA sequencing and DNA methylation profiling results. This cohort of supratentorial PLAGL1-fused tumors highlights: 1/ the ependymal cell origin of this new neoplastic entity; 2/ benefit of looking for a PLAGL1 fusion in supratentorial cases of non-ZFTA/non-YAP1 ependymomas; and 3/ the usefulness of PLAGL1 FISH.

Examination of emotional intelligence (EI) of autistic individuals has gained popularity. These efforts have included the BarOn Emotional Quotient Inventory, Youth Version (BarOn EQ-i YV); however, this measure was not standardized with this population and so its utility and the accuracy of its factor structure for this population is questionable. This study examined how well the factor structure as represented by a sample of autistic children and youth aligns with that described in the measure's technical manual to clarify considerations for use. Results indicate poor metrics of model fit. Some factors were significantly correlated, though this was attenuated somewhat upon correction for multiple analyses. Two items from the interpersonal factor were negatively loaded, suggesting they should be subtracted from other items in that factor (in contrast to the standardized model). Implications for EI construct validity, understanding of EI in autism, and use of EI measures for this population are discussed.

Visual exploration paradigms involving object arrays have been used to examine salience of social stimuli such as faces in ASD. Recent work suggests performance on these paradigms may associate with clinical features of ASD. We evaluate metrics from a visual exploration paradigm in 4-to-11-year-old children with ASD (n = 23; 18 males) and typical development (TD; n = 23; 13 males). Presented with arrays containing faces and nonsocial stimuli, children with ASD looked less at (p = 0.002) and showed fewer fixations to (p = 0.022) faces than TD children, and spent less time looking at each object on average (p = 0.004). Attention to the screen and faces correlated positively with social and cognitive skills in the ASD group (ps < 0.05). This work furthers our understanding of objective measures of visual exploration in ASD and its potential for quantifying features of ASD.

Background: Detailed spectroscopy of neutron-rich, heavy, deformed nuclei is of broad interest for nuclear astrophysics and nuclear structure. Nuclei in the r-process path and following freeze-out region impact the resulting r-process abundance distribution, and the structure of nuclei midshell in both proton and neutron number helps to understand the evolution of subshell gaps and large deformation in these nuclei. Purpose: We aim to improve the understanding of the nuclear structure of Gd160, specifically the Kπ=4+ bands, as well as study the β decay of Eu160 into Gd160. Methods: High-statistics decay spectroscopy of Gd160 resulting from the β-decay of Eu160 was collected using the GRIFFIN spectrometer at the TRIUMF-ISAC facility. Results: Two new excited states and ten new transitions were observed in Gd160. The β-decaying half-lives of the low- and high-spin isomers in Eu160 were determined, and the low-spin state's half-life was measured to be t1/2=26.0(8) s, ≈16% shorter than previous measurements. Lifetimes of the two Kπ=4+ bandheads in Gd160 were measured for the first time, as well as γ-γ angular correlations and mixing ratios of intense transitions out of those bandheads. Conclusions: Lifetimes and mixing ratios suggest that the hexadecapole phonon model of the Kπ=4+ bandheads in Gd160 is preferred over a simple two-state strong mixing scenario, although further theoretical calculations are needed to fully understand these states. Additionally, the 1999.0-keV state in Gd160 heavily populated in β decay is shown to have positive parity, which raises questions regarding the structure of the high-spin β-decaying state in Eu160.

Introduction Diabetes disparities exist based on socioeconomic status, race, and ethnicity. The aim of this study is to compare two cohorts with diabetes from California and Florida to better elucidate how health outcomes are stratified within underserved communities according to state location, race, and ethnicity.Research design and methods Two cohorts were recruited for comparison from 20 Federally Qualified Health Centers as part of a larger ECHO Diabetes program. Participant-level data included surveys and HbA1c collection. Center-level data included Healthcare Effectiveness Data and Information Set metrics. Demographic characteristics were summarized overall and stratified by state (frequencies, percentages, means (95% CIs)). Generalized linear mixed models were used to compute and compare model-estimated rates and means.Results Participant-level cohort: 582 adults with diabetes were recruited (33.0% type 1 diabetes (T1D), 67.0% type 2 diabetes (T2D)). Mean age was 51.1 years (95% CI 49.5, 52.6); 80.7% publicly insured or uninsured; 43.7% non-Hispanic white (NHW), 31.6% Hispanic, 7.9% non-Hispanic black (NHB) and 16.8% other. Center-level cohort: 32 796 adults with diabetes were represented (3.4% with T1D, 96.6% with T2D; 72.7% publicly insured or uninsured). Florida had higher rates of uninsured (p9% HbA1c (p

Introduction Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic healthcare. Alternative models are needed; e-health tools represent scalable and evidence-based solution. We aim to evaluate the effectiveness of the Genetics Navigator, an interactive patient-centred digital platform that supports the collection of medical and family history, provision of pregenetic and postgenetic counselling and return of genetic testing results across paediatric and adult settings.Methods and analysis We will evaluate the effectiveness of the Genetics Navigator combined with usual care by a genetics clinician (physician or counsellor) to usual care alone in a randomised controlled trial. One hundred and thirty participants (adults patients or parents of paediatric patients) eligible for genetic testing through standard of care will be recruited across Ontario genetics clinics. Participants randomised into the intervention arm will use the Genetics Navigator for pretest and post-test genetic counselling and results disclosure in conjunction with their clinician. Participants randomised into the control arm will receive usual care, that is, clinician-delivered pretest and post-test genetic counselling, and results disclosure. The primary outcome is participant distress 2 weeks after test results disclosure. Secondary outcomes include knowledge, decisional conflict, anxiety, empowerment, quality of life, satisfaction, acceptability, digital health literacy and health resource use. Quantitative data will be analysed using statistical hypothesis tests and regression models. A subset of participants will be interviewed to explore user experience; data will be analysed using interpretive description. A cost-effectiveness analysis will examine the incremental cost of the Navigator compared with usual care per unit reduction in distress or unit improvement in quality of life from public payer and societal perspectives.Ethics and dissemination This study was approved by Clinical Trials Ontario. Results will be shared through stakeholder workshops, national and international conferences and peer-reviewed journals.Trial registration number NCT06455384.

The world is facing challenges in terms of environmental sustainability and rising costs. In this context, miniaturized equipment such as microfluidic devices can be used to manipulate small volumes of fluids in micrometer-sized channels incorporating multiple components such as pumps, valves and mixers. Due to their high flexibility, these devices can provide sustainable alternatives to traditional platforms. The present study focuses on the design of a user-friendly and reliable microfluidic capillary electrophoresis chip for pharmaceutical applications. To meet pharmaceutical requirements in terms of quantification performance and overcome the injection variability usually observed with such microfluidic systems, a reliable and reproducible design for hydrodynamic injection using passive valves has been developed. It has been successfully used for synthetic cathinone analysis.