The genetic history of Portugal over the past 5,000 years.

Background: Recent ancient DNA studies uncovering large-scale demographic events in Iberia have presented very limited data for Portugal, a country located at the westernmost edge of continental Eurasia. Here, we present the most comprehensive collection of Portuguese ancient genome-wide data, from 67 individuals spanning 5000 years of human history, from the Neolithic to the nineteenth century.

Results: We identify early admixture between local hunter-gatherers and Anatolian-related farmers in Neolithic Portugal, with a northeastern-southwestern gradient of increasing Magdalenian-associated ancestry persistence in Iberia.

Iatrogenic Chronic Ankle Instability: A Complication of Ankle Arthroscopy: A Case Report.

Case: A 37-year-old man developed chronic ankle instability because of the complete absence of the anterior talofibular and calcaneofibular ligaments after previous ankle arthroscopy, confirmed by magnetic resonance imaging. Arthroscopic lateral ligament reconstruction with a gracilis tendon autograft yielded excellent outcomes, with the patient achieving stability, being pain-free, and attaining normal functional scores at 12 months postoperatively.

Conclusion: This case highlights the importance of surgical expertise to prevent complications of the arthroscopy procedure, describing a rare complication: iatrogenic chronic ankle instability, and demonstrates the efficacy of arthroscopic ligament reconstruction using grafts in the absence of native ligaments.

Trauma Care in Angola: Highlights and Strategic Insights from the 2nd Angolan Trauma Surgery Congress.

The 2nd Angolan Trauma Surgery Congress, held in Luanda, brought together healthcare professionals, surgeons, and policymakers to address the pressing challenges in trauma care across Angola. This article summarizes the congress's key themes, clinical insights, and policy discussions, with an emphasis on improving trauma systems, multidisciplinary coordination, and evidence-based surgical practices. The sessions underscored the urgent need for capacity building, trauma registries, and the standardization of pre-hospital and hospital-based trauma care protocols.

Primary Cutaneous Epstein-Barr Virus (EBV)-Positive Diffuse Large B-cell Lymphoma With Synchronous Systemic T-cell Lymphoma: A Case Report.

Epstein-Barr virus (EBV)-positive diffuse large B-cell lymphoma (DLBCL) is a rare and aggressive lymphoma that has been associated with age-related immunosenescence. Here, we present the case of a 79-year-old man with violaceous nodules on the skin, mainly on the lower and upper limbs, diagnosed as primary cutaneous EBV-positive diffuse large B-cell lymphoma (DLBCL) based on histopathological and immunohistochemical findings. Systemic evaluation revealed synchronous peripheral T-cell lymphoma, not otherwise specified (NOS), without systemic B-cell lymphoma involvement.

Genetic and Epigenetic Alterations Associated With Human Prenatal Tobacco and Environmental Tobacco Smoke Exposure: Protocol for a Systematic Evidence Map.

Objectives: This protocol outlines the development of a systematic evidence map (SEM) on genetic and epigenetic alterations associated with human prenatal tobacco exposure. The SEM will identify and synthetize epidemiological data on periconceptional and prenatal tobacco exposure associated with genetic (e.g.

Genetic transitions in the Neolithic and Bronze Age at Mas d'en Boixos (Catalonia, Spain).

Mas d'en Boixos is a key prehistoric site in Northeastern Iberia spanning from the Early Neolithic to the Late Iron Age. We analyzed genome-wide data from eight individuals and ten mitogenomes, dated to the Middle Neolithic and Early Bronze Age, alongside three previously published Iron Age individuals. Two Middle Neolithic individuals buried together were first-degree maternal relatives and carried Western Hunter-Gatherer, Anatolian, and residual Magdalenian-associated ancestries.

Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics Context.

Ongoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-coverage shotgun sequencing and innovative genotype imputation methods. This approach has the potential to provide abundant genotype information at low costs comparable to another widely used cost-effective genotyping approach-that is, SNP panels-while avoiding potential issues related to loci being ascertained in distantly related populations. Nonetheless, the wide adoption of imputation methods in humans and other species is currently constrained by the lack of publicly available reference panels that capture diversity representative of the target genomes-though the recent development of 'joint' imputation approaches, which allow genetic information from the target population to be used in genotype calling, may potentially mitigate this shortcoming.

Impact of wildfire emissions exposure on the associations between levels of lung injury, lipid peroxidation, DNA oxidation, and exposure biomarkers.

Firefighters face increased risks of developing cardio-respiratory diseases and cancer. This study aimed, for the first time, to simultaneously characterize several biomarkers of effect (lung injury by Clara cell 16 -CC16, lipid peroxidation by 8-isoprostane-8-iso, and DNA oxidation by 8-hydroxy-2-deoxyguanosine-8-OHdG) and exposure (polycyclic aromatic hydrocarbons metabolites - 6 OHPAHs and 17 metal(loid)s) in (pre- and post-exposure) paired urine samples of wildland firefighters, while exploring their inter-/intra-associations and accounting for tobacco consumption. Wildfire combat influenced the levels of CC16 (+39 %), 8-iso (+33 %), 8-OHdG (-13 to +19 %), individual and sum of OHPAHs (+75-211 %), and metal(loid)s (up to 43 %, p > 0.

Optimized in-solution enrichment of over a million ancient human SNPs.

Background: In-solution hybridization enrichment of genetic markers is a method of choice in paleogenomic studies, where the DNA of interest is generally heavily fragmented and contaminated with environmental DNA, and where the retrieval of genetic data comparable between individuals is challenging. Here, we benchmark the commercial "Twist Ancient DNA" reagent from Twist Biosciences using sequencing libraries from ancient human samples of diverse demographic origin with low to high endogenous DNA content (0.1-44%).

Guidance on minimum information requirements (MIR) from designing to reporting human biomonitoring (HBM).

Human biomonitoring (HBM) provides an integrated chemical exposures assessment considering all routes and sources of exposure. The accurate interpretation and comparability of biomarkers of exposure and effect depend on harmonized, quality-assured sampling, processing, and analysis. Currently, the lack of broadly accepted guidance on minimum information required for collecting and reporting HBM data, hinders comparability between studies.

Ideal cardiovascular health status and preeclampsia: a cohort study.

Objectives: to evaluate the association between preeclampsia and the cardiovascular health status of pregnant women.

Methods: we conducted a cohort study with 101 pregnant women, following ethical principles and approved by a research ethics committee. We assessed the ideal cardiovascular health using three behaviors (smoking abstinence, body mass index, and physical activity) and three factors (cholesterol, blood pressure, and absence of diabetes and cardiovascular disease).

HADDOCK3: A Modular and Versatile Platform for Integrative Modeling of Biomolecular Complexes.

HADDOCK is a widely used resource for integrative modeling of a variety of biomolecular complexes that is able to incorporate experimental knowledge into physics-based calculations during complex prediction, refinement, scoring and analysis. Here we introduce HADDOCK3, the new modular version of the program, in which the original, parametrizable albeit rigid pipeline has been first broken down into a catalogue of independent modules and then enriched with powerful analysis tools and third-party integrations. Thanks to this increased flexibility, HADDOCK3 can now handle multiple integrative modeling scenarios, providing a valuable, physics-based tool to enrich and complement the predictions made by machine learning algorithms in the post-AlphaFold era.

Biocompatibility testing and antioxidant properties of cerium dioxide nanoparticles in human nervous system cells.

Cerium dioxide nanoparticles (CeO NP), or nanoceria, are versatile materials with interesting properties for industry and medicine fields, particularly redox properties and catalytic activity. Because of their distinctive features, they have gained high attention in biomedical and pharmacological research to be employed in drug delivery, tissue regeneration, radioprotection, or diagnostic imaging. However, previous works reported that nanoceria may also induce reactive oxygen species (ROS) under certain conditions, leading to cellular stress, cellular damage, or cell death.

Impact of Photoselective Nets on Phenolic Composition and Antioxidant Capacity in Different Apple Cultivars Under the Same Edaphoclimatic Conditions.

Phenolic compounds in apples provide significant health benefits, including antioxidant, and anti-inflammatory properties. The phenolic profile and content in apples are influenced by genetics, environmental factors, and agricultural practices. Photoselective nets, which are designed to filter specific wavelengths of light, might impact fruit quality and phenolic content.

Lifestyle, environment and other major determinants of frailty in older adults: a population-based study from the UK Biobank.

Frailty is a geriatric multidimensional syndrome characterized by a loss of physiologic reserves and disproportionate vulnerability to external stressors and associated with increased risk of multiple negative health outcomes. Since frailty can be prevented, controlled, and even reverted in its early stages, identifying the main factors involved in its development is crucial to implement preventive and/or restorative interventions. The aim of this study was to assess the impact of a broad range of parameters, including host factors, lifestyle, diet, and environmental and occupational conditions, on the development of frailty in later life.

Impact of occupational exposure to wildfire events on systemic inflammatory biomarkers in Portuguese wildland firefighters.

While occupational exposure as a firefighter is considered a dangerous occupation, research on the underlying mechanisms remains limited, particularly in wildland firefighters. Inflammation, a key effect of wildfire exposure, plays a significant role in the development of various diseases. The current study aims to investigate the impact of wildland firefighting exposure on the levels of pro-inflammatory systemic biomarkers.

Occupational exposure to wildland firefighting and its effects on systemic DNA damage.

Background: Portugal is among the European Union countries more devastated by forest fires. Wildland firefighters are at the forefront of this battle, facing exposure to a wide range of harmful pollutants. Epidemiological studies have highlighted a potential link between occupational firefighting exposure and several diseases, including cancer.

Congenital cutis laxa type IC in a newborn with a newly identified genetic variant.

Congenital cutis laxa is a rare connective tissue disorder, often apparent at birth or shortly thereafter, characterised by loose, redundant and inelastic skin that hangs in folds. In addition to cutaneous abnormalities, the condition can have systemic features including pulmonary, cardiovascular and gastrointestinal involvement, with varying severity depending on the underlying genetic mutation. We report the case of a Caucasian male newborn who presented with loose, wrinkled skin at birth.

Hazard characterization of the mycotoxins enniatins and beauvericin to identify data gaps and improve risk assessment for human health.

Enniatins (ENNs) and beauvericin (BEA) are cyclic hexadepsipeptide fungal metabolites which have demonstrated antibiotic, antimycotic, and insecticidal activities. The substantial toxic potentials of these mycotoxins are associated with their ionophoric molecular properties and relatively high lipophilicities. ENNs occur extensively in grain and grain-derived products and are considered a food safety issue by the European Food Safety Authority (EFSA).

Exposure to per-and poly-fluoroalkyl substances and respiratory and skin effects in children and adolescents: A systematic review and meta-analysis.

Despite being previously banned due to long-term health effects, Per- and polyfluoroalkyl substances (PFAS) remain widespread in the environment, accumulating in animals and humans. This systematic review and meta-analysis explores associations between exposure to PFAS and asthma onset, wheezing, atopic dermatitis, and eczema in children and adolescents while addressing exposure timing and sex-specific differences. After comprehensive search conducted in several databases, including risk of bias, study heterogeneity, and quality of evidence evaluation, the review included 28 observational studies, most with low risk of bias in all domains.

Association between exposure to airborne endocrine disrupting chemicals and asthma in children or adolescents: A systematic review and meta-analysis.

Various studies have explored the association between Endocrine Disrupting Chemicals (EDCs) exposure and children's and adolescents' respiratory health, showing potential long-term effects and links to asthma. This systematic review explores the association between exposure to seven EDC groups during school age and adolescence and asthma onset or exacerbation while highlighting the predominant compounds underlying these potential associations. PubMed, Web of Science, Scopus, and Cochrane Library databases were searched with no time restriction.

Incidental nanoparticle characterisation in industrial settings to support risk assessment modelling.

Research on nanoparticle (NP) release and potential exposure can be assessed through experimental field campaigns, laboratory simulations, and prediction models. However, risk assessment models are typically designed for manufactured NP (MNP) and have not been adapted for incidental NP (INP) properties. A notable research gap is identifying NP sources and their chemical, physical, and toxicological properties, especially in real-world settings.