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Black and non-White Latinx children have historically been diagnosed with autism at a later age and with more significant impairments than White peers. This study aimed to gather insights from members of the autism service provider workforce on current barriers and facilitators to achieving equity in early childhood autism evaluation, referrals, and treatment. We employed a qualitative descriptive design using semi-structured virtual focus groups with autism experts in North Carolina (N = 26). Our final sample included pediatric clinicians across disciplines, researchers, family/caregiver advocates, and policymakers/government representatives. We identified four overarching themes representing challenges to equitable autism service provision: (1) workforce composition and recruitment concerns, (2) workforce capacity and accessibility concerns, (3) workforce compensation obstacles, and (4) COVID-19 pandemic adaptations' impact. Our findings demonstrate the need for improved workforce diversity, autism-specific education, adequate compensation, and interventions to address burnout. To remediate existing barriers to equity, diversity in recruitment across training levels, cultural awareness, autism education for all pediatric providers, and partnerships with caregivers as experts must be prioritized. These investments in the autism workforce will allow its interdisciplinary professionals to better meet the needs of children and families from historically marginalized communities and achieve equitable early childhood service provision.

Gender equality and women's empowerment are important issues that still need to be addressed, despite some progress in recent years. The United Nations 2030 Agenda for Sustainable Development includes 17 Sustainable Development Goals (SDGs) which aim to tackle various global challenges, including the 4th (Quality Education) and 5th (Gender Equality) goals that were used to frame an activity in a science education subject in a primary education teaching degree. Previous research has found a decrease in girls' interest in STEM and STEM-related jobs in primary and secondary education. To encourage girls in primary education towards STEM-related professions, an activity was organized in a science subject at a university in Navarre, Spain. The goal of this activity was to identify inspiring women scientists who could serve as role models for university and primary school students. A knowledge model, which is a concise and graphical representation of knowledge through concept maps, was created using the methodology of knowledge model design (Cañas et al. Revista De Informática Educativa 13:145-158, 2000) to showcase all the women scientists selected by the students. This final model is publicly accessible and can be shared with any educational center interested in promoting gender diversity in STEM fields. The results showed that the students learned meaningfully as they inquired about women scientists in professions that are typically considered more suitable for men. As these students are trainee primary school teachers, they can become part of an educational network that empowers girls by developing STEM-related activities that promote gender equality.

Abstract As the need for ecosystem biodiversity assessment increases within the climate crisis framework, more and more studies using spectral variation hypothesis (SVH) are proposed to assess biodiversity at various scales. The SVH implies optical diversity (also called spectral diversity) is driven by light absorption dynamics associated with plant traits (PTs) variability (which is an indicator of functional diversity) which is, in turn, determined by biodiversity. In this study, we examined the relationship between PTs variability, optical diversity and α‐ and β‐diversity at different taxonomic ranks at the Monte Bondone grasslands, Trentino province, Italy. The results of the study showed that the PTs variability, at the α scale, was not correlated with biodiversity. On the other hand, the results observed at the community scale (β‐diversity) showed that the variation of some of the investigated biochemical and biophysical PTs was associated with the β‐diversity. We used the Mantel test to analyse the relationship between the PTs variability and species β‐diversity. The results showed a correlation coefficient of up to 0.50 between PTs variability and species β‐diversity. For higher taxonomic ranks such as family and functional groups, a slightly higher Spearman's correlation coefficient of up to 0.64 and 0.61 was observed, respectively. The SVH approach was also tested to estimate β‐diversity and we found that spectral diversity calculated by Spectral Angle Mapper showed to be a better proxy of biodiversity in the same ecosystem where the spectral diversity approach failed to estimate α‐diversity. These findings suggest that optical and PTs diversity approaches can be used to predict species diversity in the grasslands ecosystem where the species turnover is high.

The use of portable or personal electronic equipment (PEP) in hazardous areas, such as those where explosive atmospheres may occur, poses a challenge to safety and compliance. Such equipment may include smartphones, tablets, laptops, cameras, and wearable devices. While some PEPs may be certified for use in hazardous areas, others may not have a certificate or may not meet the required Equipment Protection Level (EPL) for the specific zone. In such cases, the owner or operator of the PEP needs to follow some guidelines to ensure the safe and appropriate use of the equipment. The International Electrotechnical Commission (IEC) has published a Technical Specification, IEC TS 60079-48 (Explosive Atmosphere – Part 48, 2023), to guide the use of PEP without a certificate for use in hazardous areas requiring EPL Gb, Gc, Db, or Dc. This document covers the general requirements, administrative controls, and drop tests for PEP, as well as some examples of equipment that could be assigned a PEP. This paper provides an overview and analysis of the new Technical Specification IEC TS 60079-48, published in December 2023, which outlines recommended practices for the use of portable electronic devices in potentially explosive atmospheres, especially in Zones 2 and 22 (ATEX Directive 2014/34/EU). The document emphasizes the importance of using ATEX-certified devices but acknowledges situations where non-certified devices may be permissible, subject to a rigorous risk assessment. The paper also highlights challenges in proving that certain devices, even if non-certified, cannot become ignition sources through technical and organizational measures. It critiques the conservative approach of the specification in classifying electrical devices compared to other ignition sources. The new Technical Specification offers a standardized basis for risk assessments, aligning with existing regulations. However, the stringent rules for electrical devices pose challenges, and the paper suggests collaborative assessments among operators for frequently used PEP devices. The aim of this work, as mentioned in the text, is to guide operators in evaluating specific devices and developing internal organizational measures.

Objective: The present study combined transcriptomic data and computational techniques based on gene expression signatures to identify new bioactive compounds or Food and Drug Administration-approved drugs for the treatment of bipolar disorder (BD). Methods: Five transcriptomic datasets containing 165 blood samples from individuals with BD were selected from the Gene Expression Omnibus (GEO). The number of participants varied from six to 60, with a mean age between 35 and 48 years and a gender difference between them. Most of these patients were receiving pharmacological treatment. Master regulator analysis (MRA) and gene set enrichment analysis (GSEA) were performed to identify genes that were significantly different between patients with BD and healthy controls and their associations with mood states in patients with BD. In addition, molecules that could reverse the transcriptomic profiles of BD-altered regulons were identified from the Library of Network-Based Cellular Signatures Consortium (LINCS) and the Broad Institute Connectivity Map Drug Repurposing Database (cMap) databases. Results: MRA identified 59 candidate master regulators (MRs) that modulate regulatory units enriched with BD-altered genes. In contrast, GSEA identified 134 enriched genes and 982 regulons whose activation state was determined. Both analyses revealed genes exclusively associated with mania, depression, or euthymia, and some genes were shared among these three mood states. We identified bioactive compounds and licensed drug candidates, including antihypertensives and antineoplastic agents, as promising candidates for the treatment of BD. However, experimental validation is essential to confirm these findings in further studies. Conclusion: Although our data are still preliminary, they provide some insights into the biological patterns of different mood states in patients with BD and their potential therapeutic targets. The strategy of transcriptomics plus bioinformatics offers a way to advance drug discovery and personalized medicine by using gene expression information.

To better understand the pathological and phenotypic heterogeneity of progressive supranuclear palsy and the links between the two, we applied a novel unsupervised machine learning algorithm (Subtype and Stage Inference) to the largest MRI data set to date of people with clinically diagnosed progressive supranuclear palsy (including progressive supranuclear palsy-Richardson and variant progressive supranuclear palsy syndromes). Our cohort is comprised of 426 progressive supranuclear palsy cases, of which 367 had at least one follow-up scan, and 290 controls. Of the progressive supranuclear palsy cases, 357 were clinically diagnosed with progressive supranuclear palsy-Richardson, 52 with a progressive supranuclear palsy-cortical variant (progressive supranuclear palsy-frontal, progressive supranuclear palsy-speech/language, or progressive supranuclear palsy-corticobasal), and 17 with a progressive supranuclear palsy-subcortical variant (progressive supranuclear palsy-parkinsonism or progressive supranuclear palsy-progressive gait freezing). Subtype and Stage Inference was applied to volumetric MRI features extracted from baseline structural (T1-weighted) MRI scans and then used to subtype and stage follow-up scans. The subtypes and stages at follow-up were used to validate the longitudinal consistency of subtype and stage assignments. We further compared the clinical phenotypes of each subtype to gain insight into the relationship between progressive supranuclear palsy pathology, atrophy patterns, and clinical presentation. The data supported two subtypes, each with a distinct progression of atrophy: a 'subcortical' subtype, in which early atrophy was most prominent in the brainstem, ventral diencephalon, superior cerebellar peduncles, and the dentate nucleus, and a 'cortical' subtype, in which there was early atrophy in the frontal lobes and the insula alongside brainstem atrophy. There was a strong association between clinical diagnosis and the Subtype and Stage Inference subtype with 82% of progressive supranuclear palsy-subcortical cases and 81% of progressive supranuclear palsy-Richardson cases assigned to the subcortical subtype and 82% of progressive supranuclear palsy-cortical cases assigned to the cortical subtype. The increasing stage was associated with worsening clinical scores, whilst the 'subcortical' subtype was associated with worse clinical severity scores compared to the 'cortical subtype' (progressive supranuclear palsy rating scale and Unified Parkinson's Disease Rating Scale). Validation experiments showed that subtype assignment was longitudinally stable (95% of scans were assigned to the same subtype at follow-up) and individual staging was longitudinally consistent with 90% remaining at the same stage or progressing to a later stage at follow-up. In summary, we applied Subtype and Stage Inference to structural MRI data and empirically identified two distinct subtypes of spatiotemporal atrophy in progressive supranuclear palsy. These image-based subtypes were differentially enriched for progressive supranuclear palsy clinical syndromes and showed different clinical characteristics. Being able to accurately subtype and stage progressive supranuclear palsy patients at baseline has important implications for screening patients on entry to clinical trials, as well as tracking disease progression.

The impact of common and rare variants in COVID-19 host genetics has been widely studied. In particular, in Fallerini et al. (Human genetics, 2022, 141, 147–173), common and rare variants were used to define an interpretable machine learning model for predicting COVID-19 severity. First, variants were converted into sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. After that, the Boolean features, selected by these logistic models, were combined into an Integrated PolyGenic Score (IPGS), which offers a very simple description of the contribution of host genetics in COVID-19 severity.. IPGS leads to an accuracy of 55%–60% on different cohorts, and, after a logistic regression with both IPGS and age as inputs, it leads to an accuracy of 75%. The goal of this paper is to improve the previous results, using not only the most informative Boolean features with respect to the genetic bases of severity but also the information on host organs involved in the disease. In this study, we generalize the IPGS adding a statistical weight for each organ, through the transformation of Boolean features into “Boolean quantum features,” inspired by quantum mechanics. The organ coefficients were set via the application of the genetic algorithm PyGAD, and, after that, we defined two new integrated polygenic scores (IPGSph1 and IPGSph2). By applying a logistic regression with both IPGS, (IPGSph2 (or indifferently IPGSph1) and age as inputs, we reached an accuracy of 84%–86%, thus improving the results previously shown in Fallerini et al. (Human genetics, 2022, 141, 147–173) by a factor of 10%.

The most common clinical phenotype of progressive supranuclear palsy is Richardson syndrome, characterized by levodopa unresponsive symmetric parkinsonism, with a vertical supranuclear gaze palsy, early falls and cognitive impairment. There is currently no detailed understanding of the full sequence of disease pathophysiology in progressive supranuclear palsy. Determining the sequence of brain atrophy in progressive supranuclear palsy could provide important insights into the mechanisms of disease progression, as well as guide patient stratification and monitoring for clinical trials. We used a probabilistic event-based model applied to cross-sectional structural MRI scans in a large international cohort, to determine the sequence of brain atrophy in clinically diagnosed progressive supranuclear palsy Richardson syndrome. A total of 341 people with Richardson syndrome (of whom 255 had 12-month follow-up imaging) and 260 controls were included in the study. We used a combination of 12-month follow-up MRI scans, and a validated clinical rating score (progressive supranuclear palsy rating scale) to demonstrate the longitudinal consistency and utility of the event-based model's staging system. The event-based model estimated that the earliest atrophy occurs in the brainstem and subcortical regions followed by progression caudally into the superior cerebellar peduncle and deep cerebellar nuclei, and rostrally to the cortex. The sequence of cortical atrophy progresses in an anterior to posterior direction, beginning in the insula and then the frontal lobe before spreading to the temporal, parietal and finally the occipital lobe. This in vivo ordering accords with the post-mortem neuropathological staging of progressive supranuclear palsy and was robust under cross-validation. Using longitudinal information from 12-month follow-up scans, we demonstrate that subjects consistently move to later stages over this time interval, supporting the validity of the model. In addition, both clinical severity (progressive supranuclear palsy rating scale) and disease duration were significantly correlated with the predicted subject event-based model stage (P

Background and aims Hypertension is a leading risk factor for cardiovascular disease. Electronic health records (EHRs) are routinely collected throughout a person’s care, recording all aspects of health status, including current and past conditions, prescriptions and test results. EHRs can be used for epidemiological research. However, there are nuances in the way conditions are recorded using clinical coding; it is important to understand the methods which have been applied to define exposures, covariates and outcomes to enable interpretation of study findings. This study aimed to identify codelists used to define hypertension in studies that use EHRs and generate recommended codelists to support reproducibility and consistency.Eligibility criteria Studies included populations with hypertension defined within an EHR between January 2010 and August 2023 and were systematically identified using MEDLINE and Embase. A summary of the most frequently used sources and codes is described. Due to an absence of Systematized Nomenclature of Medicine Clinical Terms (SNOMED CT) codelists in the literature, a recommended SNOMED CT codelist was developed to aid consistency and standardisation of hypertension research using EHRs.Findings 375 manuscripts met the study criteria and were eligible for inclusion, and 112 (29.9%) reported codelists. The International Classification of Diseases (ICD) was the most frequently used clinical terminology, 59 manuscripts provided ICD 9 codelists (53%) and 58 included ICD 10 codelists (52%). Informed by commonly used ICD and Read codes, usage recommendations were made. We derived SNOMED CT codelists informed by National Institute for Health and Care Excellence guidelines for hypertension management. It is recommended that these codelists be used to identify hypertension in EHRs using SNOMED CT codes.Conclusions Less than one-third of hypertension studies using EHRs included their codelists. Transparent methodology for codelist creation is essential for replication and will aid interpretation of study findings. We created SNOMED CT codelists to support and standardise hypertension definitions in EHR studies.

Background Nintedanib slows progression of lung function decline in patients with progressive fibrosing (PF) interstitial lung disease (ILD) and was recommended for this indication within the United Kingdom (UK) National Health Service in Scotland in June 2021 and in England, Wales and Northern Ireland in November 2021. To date, there has been no national evaluation of the use of nintedanib for PF-ILD in a real-world setting. Methods 26 UK centres were invited to take part in a national service evaluation between 17 November 2021 and 30 September 2022. Summary data regarding underlying diagnosis, pulmonary function tests, diagnostic criteria, radiological appearance, concurrent immunosuppressive therapy and drug tolerability were collected via electronic survey. Results 24 UK prescribing centres responded to the service evaluation invitation. Between 17 November 2021 and 30 September 2022, 1120 patients received a multidisciplinary team recommendation to commence nintedanib for PF-ILD. The most common underlying diagnoses were hypersensitivity pneumonitis (298 out of 1120, 26.6%), connective tissue disease associated ILD (197 out of 1120, 17.6%), rheumatoid arthritis associated ILD (180 out of 1120, 16.0%), idiopathic nonspecific interstitial pneumonia (125 out of 1120, 11.1%) and unclassifiable ILD (100 out of 1120, 8.9%). Of these, 54.4% (609 out of 1120) were receiving concomitant corticosteroids, 355 (31.7%) out of 1120 were receiving concomitant mycophenolate mofetil and 340 (30.3%) out of 1120 were receiving another immunosuppressive/modulatory therapy. Radiological progression of ILD combined with worsening respiratory symptoms was the most common reason for the diagnosis of PF-ILD. Conclusion We have demonstrated the use of nintedanib for the treatment of PF-ILD across a broad range of underlying conditions. Nintedanib is frequently co-prescribed alongside immunosuppressive and immunomodulatory therapy. The use of nintedanib for the treatment of PF-ILD has demonstrated acceptable tolerability in a real-world setting.

IntroductionPatients diagnosed with Interstitial Lung Diseases (ILD) use devices to self-monitor their health and well-being. Little is known about the range of devices, selection, frequency and terms of use and overall utility. We sought to quantify patients' usage and experiences with home digital devices, and further evaluate their perceived utility and barriers to adaptation.MethodsA team of expert clinicians and patient partners interested in self-management approaches designed a 48-question cross-sectional electronic survey; specifically targeted at individuals diagnosed with ILD. The survey was critically appraised by the interdisciplinary self-management group at Royal Devon University Hospitals NHS Foundation Trust during a 6-month validation process. The survey was open for participation between September 2021 and December 2022, and responses were collected anonymously. Data were analysed descriptively for quantitative aspects and through thematic analysis for qualitative input.Results104 patients accessed the survey and 89/104 (86%) reported a diagnosis of lung fibrosis, including 46/89 (52%) idiopathic pulmonary fibrosis (IPF) with 57/89 (64%) of participants diagnosed >3 years and 59/89 (66%) female. 52/65(80%) were in the UK; 33/65 (51%) reported severe breathlessness medical research council MRC grade 3-4 and 32/65 (49%) disclosed co-morbid arthritis or joint problems. Of these, 18/83 (22%) used a hand- held spirometer, with only 6/17 (35%) advised on how to interpret the readings. Pulse oximetry devices were the most frequently used device by 35/71 (49%) and 20/64 (31%) measured their saturations more than once daily. 29/63 (46%) of respondents reported home-monitoring brought reassurance; of these, for 25/63 (40%) a feeling of control. 10/57 (18%) felt it had a negative effect, citing fluctuating readings as causing stress and 'paranoia'. The most likely help-seeking triggers were worsening breathlessness 53/65 (82%) and low oxygen saturation 43/65 (66%). Nurse specialists were the most frequent source of help 24/63 (38%). Conclusion: Patients can learn appropriate technical skills, yet perceptions of home-monitoring are variable; targeted assessment and tailored support is likely to be beneficial.

Background Opportunities for home-monitoring are increasing exponentially. Home- spirometry is reproducible and reliable in interstitial lung disease (ILD), yet patients’ experiences are not reported. Given the morbidity and mortality associated with ILDs, maintaining health-related quality-of-life is vital. We report our findings from a codesigned, qualitative study capturing the perspectives and experiences of patients using home-spirometry in a UK regional ILD National Health Service England (NHSE) commissioned service.Methods Patients eligible for home-spirometry as routine clinical care, able to give consent and able to access a smart phone were invited to participate. In-depth, semistructured interviews were conducted at serial time points (baseline, 1, 3 and 6 months), recorded, transcribed and analysed thematically.Results We report on the experiences of 10 recruited patients (8 males; median age 66 years, range 50–82 years; 7 diagnosed with idiopathic pulmonary fibrosis, 3 other ILDs) who generally found spirometry convenient and easy to use, but their relationships with forced vital capacity results were complex. Main themes emerging were: (1) anticipated benefits—to identify change, trigger action and aid understanding of condition; (2) needs—clinical oversight and feedback, understanding of results, ownership, need for data and a need ‘to know’; (3) emotional impact—worry, reassurance, ambivalence/conflicting feelings, reminder of health issues, indifference; (4) ease of home-spirometry—simplicity, convenience and (5) difficulties with home-spirometry—technical issues, technique, physical effort.Conclusion Home-spirometry has many benefits, but in view of the potential risks to psychological well-being, must be considered on an individual basis. Informed consent and decision-making are essential and should be ongoing, acknowledging potential limitations as well as benefits. Healthcare support is vital.

ABSTRACT: Objectives: To analyze the clinical characteristics and outcomes of admitted patients with the hospital- versus community-manifested COVID-19 and to evaluate the risk factors related to mortality in the first population. Methods: This retrospective cohort included consecutive adult patients with COVID-19, hospitalized between March and September 2020. The demographic data, clinical characteristics, and outcomes were extracted from medical records. Patients with hospital-manifested COVID-19 (study group) and those with community-manifested COVID-19 (control group) were matched by the propensity score model. Logistic regression models were used to verify the risk factors for mortality in the study group. Results: Among 7,710 hospitalized patients who had COVID-19, 7.2% developed symptoms while admitted for other reasons. Patients with hospital-manifested COVID-19 had a higher prevalence of cancer (19.2% vs 10.8%) and alcoholism (8.8% vs 2.8%) than patients with community-manifested COVID-19 and also had a higher rate of intensive care unit requirement (45.1% vs 35.2%), sepsis (23.8% vs 14.5%), and death (35.8% vs 22.5%) (P

Abstract Open science and collaboration are necessary to facilitate the advancement of Parkinson’s disease (PD) research. Hackathons are collaborative events that bring together people with different skill sets and backgrounds to generate resources and creative solutions to problems. These events can be used as training and networking opportunities, thus we coordinated a virtual 3-day hackathon event, during which 49 early-career scientists from 12 countries built tools and pipelines with a focus on PD. Resources were created with the goal of helping scientists accelerate their own research by having access to the necessary code and tools. Each team was allocated one of nine different projects, each with a different goal. These included developing post-genome-wide association studies (GWAS) analysis pipelines, downstream analysis of genetic variation pipelines, and various visualization tools. Hackathons are a valuable approach to inspire creative thinking, supplement training in data science, and foster collaborative scientific relationships, which are foundational practices for early-career researchers. The resources generated can be used to accelerate research on the genetics of PD.

Abstract The majority of early prediction scores and methods to predict COVID-19 mortality are bound by methodological flaws and technological limitations (e.g., the use of a single prediction model). Our aim is to provide a thorough comparative study that tackles those methodological issues, considering multiple techniques to build mortality prediction models, including modern machine learning (neural) algorithms and traditional statistical techniques, as well as meta-learning (ensemble) approaches. This study used a dataset from a multicenter cohort of 10,897 adult Brazilian COVID-19 patients, admitted from March/2020 to November/2021, including patients [median age 60 (interquartile range 48–71), 46% women]. We also proposed new original population-based meta-features that have not been devised in the literature. Stacking has shown to achieve the best results reported in the literature for the death prediction task, improving over previous state-of-the-art by more than 46% in Recall for predicting death, with AUROC 0.826 and MacroF1 of 65.4%. The newly proposed meta-features were highly discriminative of death, but fell short in producing large improvements in final prediction performance, demonstrating that we are possibly on the limits of the prediction capabilities that can be achieved with the current set of ML techniques and (meta-)features. Finally, we investigated how the trained models perform on different hospitals, showing that there are indeed large differences in classifier performance between different hospitals, further making the case that errors are produced by factors that cannot be modeled with the current predictors.

Abstract Background Emerging evidence indicates that inflammation plays an important role as a mechanism underlying mental disorders. However, most of the research on inflammatory mechanisms focuses on serum levels of interleukins and very few studies have investigated molecules that initiate and expand innate immune pathways such as damage-associated molecular patterns (DAMPs). Objectives This study investigated the levels of DAMPs among patients diagnosed with major depressive disorder (MDD), bipolar disorder (BD) I and II, schizophrenia (SCZ), and generalized anxiety disorder (GAD). We quantified serum levels of heat shock proteins (HSPs) 70 and 60 and of S100 calcium-binding protein B (S100B). Methods Serum levels of HSP70, HSP60, and S100B were assessed in a sample of participants with psychiatric disorders (n = 191) and a control group (CT) (n = 59) using enzyme-linked immunosorbent assay (ELISA). Results Serum HSP70 concentrations were significantly higher in the MDD group compared to the CT, SCZ, and BD groups. The GAD group had higher concentrations of HSP70 than the SCZ group. Exploring associations with medications, lithium (p = 0.003) and clozapine (p = 0.028) were associated with lower HSP70 levels. Approximately 64% of the sample had DAMPs levels below the limits of detection indicated by the respective ELISA kit. Conclusion This was the first study to assess DAMPs levels in a transdiagnostic sample. Our preliminary findings suggest that HSP70 may be associated with MDD pathophysiology. Medications such as lithium and clozapine were associated with lower HSP70 levels in BD and SCZ groups, respectively. Therefore, it is worth mentioning that all participants were medicated and many psychotropic drugs exert an anti-inflammatory effect, possibly reducing the signs of inflammation.