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In implantology, among the key choices, to obtain predictable results, it is essential to establish, using cone beam computed tomography (CBCT), the bone site and where to insert the implants; during the surgical phase, these sites must be identified on the oral mucosa. Surgical templates are a valid aid, especially in complex cases which require the insertion of more than three or four implants. In cases of a single implant, on the other hand, surgical guides are rarely used, and the implant is often inserted freehand; therefore, the identification of the implant site on the oral mucosa (after choosing the location on the CBCT) is more difficult. For this reason, the clinician uses the teeth in the arch as a reference. This study evaluates the ability of the human eye to identify, on the oral mucosa, where the implant collars will be positioned, the position of which has previously been chosen on the CBCT, in cases where the hands-free surgical technique (without surgical guides) is used. The verification of this precision is carried out using particular thermo-printed templates which contain radiopaque metal spheres. The results show that, in the freehand technique, it is difficult to precisely identify the implant sites (chosen via X-ray) on the mucosa, especially when they are far from natural teeth adjacent to the edentulous area. In case of monoedentulism, the freehand implant technique seems to be applicable by expert implantologists with a reduced risk of error; in fact, clinical experience helps to find the correct correspondence between the implant site chosen on the CBCT and its identification on the mucosa. The level of experience is fundamental in the clinician’s decision about whether or not to use surgical guides; in fact, doctors with little experience should use surgical guides even in the simplest cases to reduce the risk of error.

Abstract Hypomyelinating leukodystrophy (HLD) is an autosomal recessive disorder characterized by defective central nervous system myelination. Exome sequencing of two siblings with severe cognitive and motor impairment and progressive hypomyelination characteristic of HLD revealed homozygosity for a missense single-nucleotide variant (SNV) in EPRS1 (c.4444 C > A; p.Pro1482Thr), encoding glutamyl-prolyl-tRNA synthetase, consistent with HLD15. Patient lymphoblastoid cell lines express markedly reduced EPRS1 protein due to dual defects in nuclear export and cytoplasmic translation of variant EPRS1 mRNA. Variant mRNA exhibits reduced METTL3 methyltransferase-mediated writing of N 6-methyladenosine (m6A) and reduced reading by YTHDC1 and YTHDF1/3 required for efficient mRNA nuclear export and translation, respectively. In contrast to current models, the variant does not alter the sequence of m6A target sites, but instead reduces their accessibility for modification. The defect was rescued by antisense morpholinos predicted to expose m6A sites on target EPRS1 mRNA, or by m6A modification of the mRNA by METTL3-dCas13b, a targeted RNA methylation editor. Our bioinformatic analysis predicts widespread occurrence of SNVs associated with human health and disease that similarly alter accessibility of distal mRNA m6A sites. These results reveal a new RNA-dependent etiologic mechanism by which SNVs can influence gene expression and disease, consequently generating opportunities for personalized, RNA-based therapeutics targeting these disorders.

Thrombotic disorders are some of the main comorbidities in cancer patients. So far, research has indicated that thrombin, a key regulator of hemostasis, contributes to cancer progression. However, data on its origin in tumor microenvironments remain elusive. Based on previous research, we analyzed the RNA and protein expression of prothrombin, a precursor of thrombin, in selected colorectal cancer (CRC) cell lines. Since the effect of prothrombin in cancer development has not been previously reported, we treated the cells for 24 h and 48 h with different prothrombin concentrations and assessed the effect on cell proliferation and migration. Our results show that the tested CRC cell lines expressed prothrombin and that prothrombin inhibited proliferation and migration. The presented results suggest that prothrombin may contribute to CRC etiopathology and could serve as a potential diagnostic biomarker and therapeutic target. The mechanisms underlying prothrombin expression in cancer cells, potential prothrombin activation, and the underlying processes driving the described effects warrant further investigation.

AbstractBackground The Loggerhead sea turtle (Caretta caretta) is a marine reptile belonging to a monophyletic group of chelonians. As these animals are long-lived, they have the ability to accumulate pollutants.Aim To collect epidemiological data on toxic metals in marine Loggerhead sea turtles.Materials and Methods Forty Loggerhead sea turtles comprising 25 males and 15 females stranded freshly dead between 2013 and 2018 along the coasts of Sicily, Southern Italy, were examined for arsenic, cadmium, and lead accumulation in muscle and adipose tissues by means of a validated ICP-MS method. A modified K index as a growth condition factor, namely Fulton’s K index, was used. Samples were tested in duplicate. A Wilcoxon rank sum test was carried out to evaluate metal contents differences between muscle and adipose tissues and between genders.Results The Fulton’s K index suggested a good body condition of the C. caretta recovered with mean values of 5.34 ± 3.40 (n = 40; ±SD). Detectable concentrations of lead were found in 70% of the samples analysed with mean values of 0.65 ± 1.67 mg/kg wet weight and 0.51 ± 1.29 mg/kg wet weight in muscle and adipose tissues, respectively. No significant differences in arsenic, cadmium, and lead were detected between genders. In addition, no significant correlation was found between modified K index and concentrations of arsenic, cadmium, and lead.Clinical relevance Findings on muscle and adipose tissues suggest chronic exposure of Caretta caretta to high concentrations of especially lead which might negatively affect health and welfare of these marine turtles although body condition was good.

This paper explores the significance of schools' data infrastructures as a site of institutional power and (re)configuration. Using 'infrastructure studies' as a theoretical framework and drawing on in-depth studies of three contrasting Australian secondary schools, the paper takes a holistic look at schools' data infrastructures. In contrast to the notion of the 'platformatised' school, the paper details the ad hoc and compromised ways that these school data infrastructures have developed -- highlighting a number of underlying sociotechnical conditions that lead to an ongoing process of data infrastructuring. These include issues of limited technical interoperability and differences between educational requirements and commercially-led designs. Also apparent is the disjuncture between the imagined benefits of institutional data use and the ongoing maintenance and repair required to make the infrastructures function. Taking an institutional perspective, the paper explores why digital technologies continue to complicate (rather than simplify) school processes and practices.

In this paper we report on a teacher education co-design project that explored Australian pre-service primary generalist teachers' ideations of the pedagogical links between health education and nature. As part of their coursework in a Master of Teaching degree at an Australian University, students were invited to design a Victorian Curriculum: Health and Physical Education (VC:HPE) activity that connected primary curriculum (F-6) with nature. We conducted a 3-hour suite of online learning activities and prompts using Zoom, Padlet and Moodle. The data consists of the students' curriculum design artefacts as well as recordings of the group discussions and non-assessment-based presentations of their work. Drawing on theories of child-nature interaction, we present an analysis of the ways in which n = 72 pre-service teachers across 18 groups of 4-5 educators conceptualised links between 'nature' and HPE across their activity designs. Prior to the workshop, the majority of pre-service teachers had not previously considered links between the HPE learning area and nature. Through the activities of the co-design workshop, students were surprised with the variety of pedagogical possibilities that were able to be made. There was much student discussion about the possibilities and limitations of balancing safety and risk in their nature-based activity designs. We present a thematic analysis of the quality of student-nature interactions in the groups' learning designs through: (i) exploration; (ii) embodiment; (iii) cultivation; (iv) appropriation; and (v) representation. The analysis and discussion has implications for the way quality health education is linked to nature-based learning environments, teacher education and contemporary curriculum enactment that incorporates nature and the environment as part of the learning design.

The use of digital technologies within schools is leading to the increased generation, processing and circulation of data relating to students. To date, academic research around this 'datafication' of schools and schooling has tended to focus on institutional issues of governance and commercialisation, with relatively little consideration of students' experiences. Drawing on focus group discussions with 62 students across three Australian secondary schools, the paper explores students' experiences of school datafication in terms of power, surveillance and affect. It highlights students' relatively constrained and distanced relations with school technology use, schools' use of data to enforce student accountability and self-regulation of behaviour, as well students' perceived powerlessness to engage agentically in digital practices. Drawing on notions of 'digital resignation' and 'surveillance realism', the paper concludes by considering the extent to which students might be supported to meaningfully engage with (and possibly resist) the constraining 'atmospheres' of datafication.

The need to modify removable partial dentures equipped with a metal framework in order to add other prosthetic teeth to replace natural teeth lost by the patient could lead to laboratory procedures so complex as to require the creation of new prostheses with a heavy economic burden. The creation of preformed metal pins to be welded using the economical TIG cold welding method could represent a valid alternative solution with the aim of modifying the prostheses using a reinforced resin capable of adequately resisting masticatory loads. This study evaluates and compares the mechanical robustness and the clinical reliability of these modified prostheses in cases of junctions of one or two contiguous prosthetic teeth. The 6-month follow-up demonstrated the total validity of the method via the absence of significant breakages or detachments in all of the patients analyzed; on the other hand, the prostheses modified using the traditional method and used as controls showed a high incidence of fractures.

Lipid droplets (LDs) are organelles of cellular lipid storage with fundamental roles in energy metabolism and cell membrane homeostasis. There has been an explosion of research into the biology of LDs, in part due to their relevance in diseases of lipid storage, such as atherosclerosis, obesity, type 2 diabetes, and hepatic steatosis. Consequently, there is an increasing need for a resource that combines datasets from systematic analyses of LD biology. Here, we integrate high-confidence, systematically generated human, mouse, and fly data from studies on LDs in the framework of an online platform named the "Lipid Droplet Knowledge Portal" (https://lipiddroplet.org/). This scalable and interactive portal includes comprehensive datasets, across a variety of cell types, for LD biology, including transcriptional profiles of induced lipid storage, organellar proteomics, genome-wide screen phenotypes, and ties to human genetics. This resource is a powerful platform that can be utilized to identify determinants of lipid storage.

Abstract Background The recent advances in biotechnology and computer science have led to an ever-increasing availability of public biomedical data distributed in large databases worldwide. However, these data collections are far from being “standardized” so to be harmonized or even integrated, making it impossible to fully exploit the latest machine learning technologies for the analysis of data themselves. Hence, facing this huge flow of biomedical data is a challenging task for researchers and clinicians due to their complexity and high heterogeneity. This is the case of neurodegenerative diseases and the Alzheimer’s Disease (AD) in whose context specialized data collections such as the one by the Alzheimer’s Disease Neuroimaging Initiative (ADNI) are maintained. Methods Ontologies are controlled vocabularies that allow the semantics of data and their relationships in a given domain to be represented. They are often exploited to aid knowledge and data management in healthcare research. Computational Ontologies are the result of the combination of data management systems and traditional ontologies. Our approach is i) to define a computational ontology representing a logic-based formal conceptual model of the ADNI data collection and ii) to provide a means for populating the ontology with the actual data in the Alzheimer Disease Neuroimaging Initiative (ADNI). These two components make it possible to semantically query the ADNI database in order to support data extraction in a more intuitive manner. Results We developed: i) a detailed computational ontology for clinical multimodal datasets from the ADNI repository in order to simplify the access to these data; ii) a means for populating this ontology with the actual ADNI data. Such computational ontology immediately makes it possible to facilitate complex queries to the ADNI files, obtaining new diagnostic knowledge about Alzheimer’s disease. Conclusions The proposed ontology will improve the access to the ADNI dataset, allowing queries to extract multivariate datasets to perform multidimensional and longitudinal statistical analyses. Moreover, the proposed ontology can be a candidate for supporting the design and implementation of new information systems for the collection and management of AD data and metadata, and for being a reference point for harmonizing or integrating data residing in different sources.

Early diagnosis of oncologic pathologies has a crucial role to determine patient’s prognosis and therapeutic path. Nonetheless, clinical errors and omissions that can occur during diagnostic, as well as detection of preneoplastic or neoplastic condition, may result in devasting consequences both for patients in terms of health and for professionals in terms of medico-legal responsibility. This study is aimed at examining in depth, through the presentation of a specific clinical case, the medico-legal aspects inherent to the diagnosis of oral cancer, analyzing the preventive, interceptive, and diagnostic strategies, the legal implications of clinical evaluation errors and diagnostic omission, and the type of medical damage produced and professional liability. The medico-legal landscape surrounding oral squamous cell carcinoma is multifaceted and characterized by diagnostic challenges, treatment complexities, and legal considerations. Health-care providers must remain vigilant in navigating these complexities to ensure optimal patient care while mitigating legal risks. By prioritizing high-quality medical records, fostering transparent communication with patients, and implementing preventive strategies, health-care institutions can strive to minimize the incidence of litigation and uphold standards of ethical practice in oral carcinoma cases. Additionally, continued research and education in forensic and legal medicine are essential in informing evidence-based practices and promoting patient safety in this evolving field.

Summary: Background: Neuroblastoma is the most frequent extracranial solid tumour in children, accounting for ∼15% of deaths due to cancer in childhood. The most common clinical presentation are abdominal tumours. An altered gut microbiome composition has been linked to multiple cancer types, and reported in murine models of neuroblastoma. Whether children with neuroblastoma display alterations in gut microbiome composition remains unexplored. Methods: We assessed gut microbiome composition by shotgun metagenomic profiling in an observational cross-sectional study on 288 individuals, consisting of patients with a diagnosis of neuroblastoma at disease onset (N = 63), healthy controls matching the patients on the main covariates of microbiome composition (N = 94), healthy siblings of the patients (N = 13), mothers of patients (N = 59), and mothers of the controls (N = 59). We examined taxonomic and functional microbiome composition and mother-infant strain transmission patterns. Findings: Patients with neuroblastoma displayed alterations in gut microbiome composition characterised by reduced microbiome richness, decreased relative abundances of 18 species (including Phocaeicola dorei and Bifidobacterium bifidum), enriched protein fermentation and reduced carbohydrate fermentation potential. Using machine learning, we could successfully discriminate patients from controls (AUC = 82%). Healthy siblings did not display such alterations but resembled the healthy control group. No significant differences in maternal microbiome composition nor mother-to-offspring transmission were detected. Interpretation: Patients with neuroblastoma display alterations in taxonomic and functional gut microbiome composition, which cannot be traced to differential maternal seeding. Follow-up research should include investigating potential causal links. Funding: Italian Ministry of Health Ricerca Corrente and Ricerca Finalizzata 5 per mille (to MPonzoni); Fondazione Italiana Neuroblastoma (to MPonzoni); European Research Council (ERC-StG project MetaPG-716575 and ERC-CoG microTOUCH-101045015 to NS); the European H2020 program ONCOBIOME-825410 project (to NS); the National Cancer Institute of the National Institutes of Health 1U01CA230551 (to NS); the Premio Internazionale Lombardia e Ricerca 2019 (to NS); the MIUR Progetti di Ricerca di Rilevante Interesse Nazionale (PRIN) Bando 2017 Grant 2017J3E2W2 (to NS); EMBO ALTF 593-2020 and Knowledge Generation Project from the Spanish Ministry of Science and Innovation (PID2022-139328OA-I00) (to MV-C).

Abstract Background Robot-assisted bronchoscopy (RAB) is among the newest bronchoscopic technologies, allowing improved visualization and access for small and hard-to-reach nodules. RAB studies have primarily been conducted at academic centers, limiting the generalizability of results to the broader real-world setting, while variability in diagnostic yield definitions has impaired the validity of cross-study comparisons. The objective of this study was to determine the diagnostic yield and sensitivity for malignancy of RAB in patients with pulmonary lesions in a community setting and explore the impact of different definitions on diagnostic yield estimates. Methods Data were collected retrospectively from medical records of patients ≥ 21 years who underwent bronchoscopy with the Monarch® Platform (Auris Health, Inc., Redwood City, CA) for biopsy of pulmonary lesions at three US community hospitals between January 2019 and March 2020. Diagnostic yield was calculated at the index RAB and using 12-month follow-up data. At index, all malignant and benign (specific and non-specific) diagnoses were considered diagnostic. After 12 months, benign non-specific cases were considered diagnostic only when follow-up data corroborated the benign result. An alternative definition at index classified benign non-specific results as non-diagnostic, while an alternative 12-month definition categorized index non-diagnostic cases as diagnostic if no malignancy was diagnosed during follow-up. Results The study included 264 patients. Median lesion size was 19.3 mm, 58.9% were peripherally located, and 30.1% had a bronchus sign. Samples were obtained via Monarch in 99.6% of patients. Pathology led to a malignant diagnosis in 115 patients (43.6%), a benign diagnosis in 110 (41.7%), and 39 (14.8%) non-diagnostic cases. Index diagnostic yield was 85.2% (95% CI: [80.9%, 89.5%]) and the 12-month diagnostic yield was 79.4% (95% CI: [74.4%, 84.3%]). Alternative definitions resulted in diagnostic yield estimates of 58.7% (95% CI: [52.8%, 64.7%]) at index and 89.0% (95% CI: [85.1%, 92.8%]) at 12 months. Sensitivity for malignancy was 79.3% (95% CI: [72.7%, 85.9%]) and cancer prevalence was 58.0% after 12 months. Conclusions RAB demonstrated a high diagnostic yield in the largest study to date, despite representing a real-world community population with a relatively low prevalence of cancer. Alternative definitions had a considerable impact on diagnostic yield estimates.

Single-cell studies of human white adipose tissue (WAT) provide insights into the specialized cell types in the tissue. Here the authors combine publicly available and newly generated high-resolution and bulk transcriptomic results from multiple human datasets to provide a comprehensive cellular map of white adipose tissue.

Here, the authors study the population-level impact of antimicrobial resistance genes (ARGs). By analyzing 8972 metagenomes and 3,096 gut microbiomes from healthy individuals not taking antibiotics, they demonstrate significant correlations between both the total ARG abundance and diversity and per capita antibiotic usage rates across ten countries spanning three continents. Using a collection of 154,723 human-associated metagenome assembled genomes (MAGs) they link these ARGs to microbial taxa and horizontal gene transfer.

This paper considers the subjectivation of students in light of the increasing amounts of digital data that are now being produced within schools. Taking a lead from critical data studies and the sociology of numbers, the paper draws on staff interviews in three Australian secondary schools to explore the various types of student data being generated, and the forms of student subjectivities that result. In particular, the paper contrasts the 'holistic' possibilities that some school leaders and administrators ascribe to data in terms of expanding the capacity to 'know' students, against the limited ways that data is actually being used within the schools. Most notably, the paper details how digital data appears to be configured within schools' official data procedures and practices to build student subjectivities and position students in narrow terms of performance and attendance. The paper also highlights how teachers make practical use of these limited data 'profiles' in a relational manner -- as a way of stimulating dialogue with students to know them better, rather than a source of precise calculation. In this sense, the paper considers how 'data' might be reframed in educational discourse as a practical starting-point for teacher inquiry and professional judgment rather than an imagined source of all-encompassing knowledge.

Educational researchers are showing a growing interest in Participatory Design (PD) and other collaborative co-design approaches. This paper considers the ways in which education researchers considering PD can benefit from drawing on the approach's heritage in the 1970s' Scandinavian 'cooperative inquiry' tradition. In particular, the paper highlights four core principles from the Scandinavian tradition, i.e.: the pursuit of socio-ethical outcomes, sustained consideration of what constitutes 'participation' and 'practice', and PD as a design process. While positioning these principles in school-based research is not easy, the paper considers how this has been achieved within the field of child-computer-interaction -- an area of research that is also often conducted with children in educational institutions. While remaining mindful of the institutional constraints of school-based research, we argue that these Scandinavian principles can be borrowed and built upon by educational researchers -- thereby extending the scope and ambitions of educational PD research.

Microbial genomes are available at an ever-increasing pace, as cultivation and sequencing become cheaper and obtaining metagenome-assembled genomes (MAGs) becomes more effective. Phylogenetic placement methods to contextualize hundreds of thousands of genomes must thus be efficiently scalable and sensitive from closely related strains to divergent phyla. We present PhyloPhlAn 3.0, an accurate, rapid, and easy-to-use method for large-scale microbial genome characterization and phylogenetic analysis at multiple levels of resolution. PhyloPhlAn 3.0 can assign genomes from isolate sequencing or MAGs to species-level genome bins built from >230,000 publically available sequences. For individual clades of interest, it reconstructs strain-level phylogenies from among the closest species using clade-specific maximally informative markers. At the other extreme of resolution, it scales to large phylogenies comprising >17,000 microbial species. Examples including Staphylococcus aureus isolates, gut metagenomes, and meta-analyses demonstrate the ability of PhyloPhlAn 3.0 to support genomic and metagenomic analyses.

Freezing and thawing cycles, with or without de-icing agents, are the principal causes of concrete structure degradation during the winter. This paper explores the effects of aggregate type on the level of degradation of self-compacting concrete (SCC) due to freeze-thaw (f/t) action. Natural river (NRA) and/or natural crushed (NCA) aggregate, as well as the recycled aggregate of known (RCA-N) and unknown provenance (RCA-A), were employed to produce six different SCC mixtures. The temperature, density, air content, and consistency were determined for fresh concrete, while compressive strength, water absorption by gradual immersion and vacuuming, and frost resistance with and without de-icing salts were tested for hardened concrete. Even though all tested concretes have met the criteria for frost resistance with and without the de-icing salts, it was found that the type of aggregate has a noticeable influence on it. The type of natural aggregate has little effect on SCC frost resistance, but it does influence its behavior when frost and salt are present at the same time. In f/t conditions, RCA-N can be used the same way as natural aggregate, while RCA-A causes the biggest frost resistance reduction. However, both RCAs are not recommended for application in conditions of simultaneous frost and salt impacts.

Objectives BCR-ABL1 and JAK2 V617F coexistence in myeloproliferative neoplasms has been described as concomitant or sequential events. Despite this, we present a unique case of chronic myeloid leukemia (CML) not referable to either of the known scenarios.Methods BCR-ABL1 molecular monitoring was performed by real-time quantitative PCR (RQ-PCR). At the time of molecular relapse, a targeted next-generation sequencing analysis with a customized panel of 26 genes commonly mutated in myeloid diseases was performed. To investigate the kinetics of the JAK2 variant and its association with the BCR-ABL1 rearrangement, RQ-PCR was performed at different time points during the patient’s follow-up.Results While negative at CML diagnosis, the JAK2 mutation was first detected 9 years later (VAF: 7.2%). The mutational burden of JAK2 remained stable in multiple determinations, with minor fluctuations independent of BCR-ABL1 kinetics. At the last available time point, the patient was in deep molecular response (MR4), the JAK2 mutational burden was 7%, and no clinical-laboratory findings of Ph-MPN were detectable.Discussion In the presented case, the JAK2variantoccurring during the course of the disease seems to stay in the shadows of CML, just as a bystander. The impact of this event (that may be considered suggestive of clonal hematopoiesis of indeterminate potential) on the disease outcome, even if seemingly irrelevant, has still to be explored.

Data are the most important elements of bioinformatics: Computational analysis of bioinformatics data, in fact, can help researchers infer new knowledge about biology, chemistry, biophysics, and sometimes even medicine, influencing treatments and therapies for patients. Bioinformatics and high-throughput biological data coming from different sources can even be more helpful, because each of these different data chunks can provide alternative, complementary information about a specific biological phenomenon, similar to multiple photos of the same subject taken from different angles. In this context, the integration of bioinformatics and high-throughput biological data gets a pivotal role in running a successful bioinformatics study. In the last decades, data originating from proteomics, metabolomics, metagenomics, phenomics, transcriptomics, and epigenomics have been labelled -omics data, as a unique name to refer to them, and the integration of these omics data has gained importance in all biological areas. Even if this omics data integration is useful and relevant, due to its heterogeneity, it is not uncommon to make mistakes during the integration phases. We therefore decided to present these ten quick tips to perform an omics data integration correctly, avoiding common mistakes we experienced or noticed in published studies in the past. Even if we designed our ten guidelines for beginners, by using a simple language that (we hope) can be understood by anyone, we believe our ten recommendations should be taken into account by all the bioinformaticians performing omics data integration, including experts.

DNMT3A gene mutations, detected in 20-25% of de novo acute myeloid leukemia (AML) patients, are typically heterozygous. Biallelic variants are uncommon, affecting ~3% of cases and identifying a worse prognosis. Indeed, two concomitant DNMT3A mutations were recently associated with shorter event-free survival and overall survival in AML. We present an AML case bearing an unusual DNMT3A molecular status, strongly affecting its function and strangely impacting the global genomic methylation profile. A 56-year-old Caucasian male with a diagnosis of AML not otherwise specified (NOS) presented a complex DNMT3A molecular profile consisting of four different somatic variants mapping on different alleles (in trans). 3D modelling analysis predicted the effect of the DNMT3A mutational status, showing that all the investigated mutations decreased or abolished DNMT3A activity. Although unexpected, DNMT3A’s severe loss of function resulted in a global genomic hypermethylation in genes generally involved in cell differentiation. The mechanisms through which DNMT3A contributes to AML remain elusive. We present a unique AML case bearing multiple biallelic DNMT3A variants abolishing its activity and resulting in an unexpected global hypermethylation. The unusual DNMT3A behavior described requires a reflection on its role in AML development and persistence, highlighting the heterogeneity of its deregulation.

The measurement of daily step counts is a widely adopted and efficacious approach for assessing children’s physical activity levels. With the aim of finding out the effect of daily PA sessions in schools on the total PA levels in terms of steps taken, two (treatment and control) Year Four classrooms (with students aged from eight to nine years old) in three participating schools in Malta participated in this study. A random sample of 45 children across all the treatment and control groups wore pedometers for five continuous school days. Additional data were logged to facilitate data analysis. Statistical analysis was conducted on data from 18 participants, as incomplete data were eliminated. The findings show that a daily physical activity programme was sufficient to make a significant difference in the number of steps taken at school. It also made the difference between Maltese schools being either under par (if not engaged in daily PA at school) or among high-performing nations (if engaged in daily PA at school) in terms of the proportional contribution of steps taken at school to children’s total PA. However, the capacity for school-based activity to exert wider effects on total steps taken throughout the entire day appears to be limited. Reported engagement in additional formal sports activities outside school also had limited effects on steps overall. Finally, a statistical model incorporating sex, daily PA, sports participation, and BMI as exogenous variables accounted only for around a quarter of the variation in average daily pedometer-measured PA, leaving approximately 75% of the variation unexplained. Implications of the findings are discussed, including recommendations for alternative ways of conceptualising and promoting health-related physical activity and exercise.

Contemporary schooling is seen to be altering significantly in light of a combined 'digitisation' and 'datafication' of key processes. This paper examines the nature and conditions of the datafied school by exploring how a relatively prosaic and longstanding school metric (student attendance data) is being produced and used in digital form. Drawing on empirical data taken from in-depth qualitative studies in three contrasting Australian secondary schools, the paper considers 'anticipatory', 'analytical' and 'administrative' aspects of how digitally-mediated attendance data is produced, used and imagined by school staff. Our findings foreground a number of constraints, compromises and inconsistencies that are usually glossed-over in enthusiasms for 'data-driven' education. It is argued that these findings highlight the messy realities of schools' current relationships with digital data, and the broader logics of school datafications.

Abstract Erythrocytosis is a clinical condition characterized by increased red cell mass, hemoglobin, and hematocrit values. A significant fraction of patients is described as having idiopathic erythrocytosis. We have previously demonstrated an association between erythrocytosis and the JAK2 GGCC_46/1 haplotype and CALR rs1049481_G allele. In the present study, we investigated genomic and clinical features of 80 erythrocytosis patients with the aim to provide useful information in clinical practice. Patients with idiopathic erythrocytosis could have a genomic germline background, eventually associated with somatic variants. Through association analysis, we show that male patients presenting with idiopathic erythrocytosis, and normal EPO levels could be the best candidates for the search for the JAK2 GGCC_46/1 haplotype and CALR rs1049481_G allele. Further studies are needed to confirm these findings and to depict detailed genomic and phenotypical characteristics of these patients.

Summary: Mouse models are key tools for investigating host-microbiome interactions. However, shotgun metagenomics can only profile a limited fraction of the mouse gut microbiome. Here, we employ a metagenomic profiling method, MetaPhlAn 4, which exploits a large catalog of metagenome-assembled genomes (including 22,718 metagenome-assembled genomes from mice) to improve the profiling of the mouse gut microbiome. We combine 622 samples from eight public datasets and an additional cohort of 97 mouse microbiomes, and we assess the potential of MetaPhlAn 4 to better identify diet-related changes in the host microbiome using a meta-analysis approach. We find multiple, strong, and reproducible diet-related microbial biomarkers, largely increasing those identifiable by other available methods relying only on reference information. The strongest drivers of the diet-induced changes are uncharacterized and previously undetected taxa, confirming the importance of adopting metagenomic methods integrating metagenomic assemblies for comprehensive profiling.