Search

The aim of this study was to investigate the genomic diversity of the Nero d’Aspromonte (NA) pig population. NA is a subpopulation derived from the Apulo Calabrese (AC) breed that has been reared in total isolation within the Polsi area of Aspromonte, Calabria, Italy. NA is traditionally recognised and used by local farmers for the production of typical products. The growing interest in this subpopulation has led local farmers to create a cooperative to promote NA pig meat and help preserve the cultural heritage associated with this local population. A total of 40 NA pigs were included in our study and genotyped with the Illumina GGP Porcine array. Admixture, TreeMix, and run of homozygosity (ROH) analyses were performed to investigate genetic diversity within the NA subpopulation and its relationship with the AC breed and other Italian pig breeds. The NA population clearly originated from the AC breed. The lower inbreeding and average ROH size in NA compared to AC may indicate that NA differentiated from the original AC genetic pool with the contribution of admixture from other genetic backgrounds in addition to the effects of genetic isolation and genetic drift. The analysis of the genetic diversity of the NA subpopulation showcases the utility of genomic analyses to reconstruct the genetic history of local populations. A specific conservation program for this genetic resource may further support the sustainable development of local pig production systems based on traditional farming practices as a part of agricultural cultural heritage.

Abstract This comprehensive review provides insights and suggested strategies for the analysis of germline variants using second- and third-generation sequencing technologies (SGS and TGS). It addresses the critical stages of data processing, starting from alignment and preprocessing to quality control, variant calling, and the removal of artifacts. The document emphasized the importance of meticulous data handling, highlighting advanced methodologies for annotating variants and identifying structural variations and methylated DNA sites. Special attention is given to the inspection of problematic variants, a step that is crucial for ensuring the accuracy of the analysis, particularly in clinical settings where genetic diagnostics can inform patient care. Additionally, the document covers the use of various bioinformatics tools and software that enhance the precision and reliability of these analyses. It outlines best practices for the annotation of variants, including considerations for problematic genetic alterations such as those in the human leukocyte antigen region, runs of homozygosity, and mitochondrial DNA alterations. The document also explores the complexities associated with identifying structural variants and copy number variations, underscoring the challenges posed by these large-scale genomic alterations. The objective is to offer a comprehensive framework for researchers and clinicians, ensuring that genetic analyses conducted with SGS and TGS are both accurate and reproducible. By following these best practices, the document aims to increase the diagnostic accuracy for hereditary diseases, facilitating early diagnosis, prevention, and personalized treatment strategies. This review serves as a valuable resource for both novices and experts in the field, providing insights into the latest advancements and methodologies in genetic analysis. It also aims to encourage the adoption of these practices in diverse research and clinical contexts, promoting consistency and reliability across studies.

Abstract There is cumulative evidence that lipid metabolism plays a key role in the pathogenesis of various neurodegenerative disorders including Alzheimer’s disease (AD). Visualising lipid content in a non-destructive label-free manner can aid in elucidating the AD phenotypes towards a better understanding of the disease. In this study, we combined multiple optical molecular-specific methods, Fourier transform infrared (FTIR) spectroscopic imaging, synchrotron radiation-infrared (SR-IR) microscopy, Raman and stimulated Raman scattering (SRS) microscopy, and optical-photothermal infrared (O-PTIR) microscopy with multivariate data analysis, to investigate the biochemistry of brain hippocampus in situ using a mouse model of tauopathy (rTg4510). We observed a significant difference in the morphology and lipid content between transgenic (TG) and wild type (WT) samples. Immunohistochemical staining revealed some degree of microglia co-localisation with elevated lipids in the brain. These results provide new evidence of tauopathy-related dysfunction in a preclinical study at a subcellular level.

Abstract Aims Parameters derived from reservoir‐excess pressure analysis have been demonstrated to predict cardiovascular events. Thus, altered reservoir‐excess pressure parameters could have a detrimental effect on highly‐perfused organs like the heart. We aimed to cross‐sectionally determine whether reservoir‐excess pressure parameters were associated with N‐terminal pro‐brain‐type natriuretic peptide (NT‐proBNP) in older adults. Methods We studied 868 older adults with diverse cardiovascular risk. Reservoir‐excess pressure parameters were obtained through radial artery tonometry including reservoir pressure integral, peak reservoir pressure, excess pressure integral (INTXSP), systolic rate constant (SRC) and diastolic rate constant (DRC). Plasma levels of NT‐proBNP, as a biomarker of cardiac overload, were analysed by the Proximity Extension Assay technology. Results Multivariable linear regression analyses revealed that all reservoir‐excess pressure parameters studied were associated with NT‐proBNP after adjusting for age and sex. After further adjustments for conventional cardiovascular risk factors, INTXSP [β = 0.191 (95% confidence interval, CI: 0.099, 0.283), P

Background: Recent research has highlighted the intricate relationship between the quality of a neighborhood's social and physical characteristics and maternal well-being in promoting healthy parenting practices and improving child development. This study examined the associations between neighborhood characteristics, maternal depressive symptoms, and parenting practices. Methodology/principal findings: A cross-sectional study in the city of Salvador, Brazil interviewed mothers of children between the ages 0 to 6 at local Primary Health Care Clinics. Neighborhood characteristics were assessed using questions adapted from the Guide for the Development of Early Childhood Friendly Neighborhoods. Maternal depressive symptoms were measured using the Self-Report Questionnaire (SRQ-20), and parenting practices were evaluated using the United Nations Children's Fund Family Care Indicators. The study included 503 mother-child dyads. The average maternal age was 31 years, with 50% identifying as black and 45% as brown. 67.6% of households in the study earned below the minimum wage. Multivariate regression analysis adjusted for sociodemographic covariates was used to estimate the associations between maternal outcomes and four neighborhood characteristics: sense of physical and social safety, issues or problems in the community, access to public services, and access to green and child friendly spaces. Findings revealed that only perceived safety was associated with reduced maternal depressive symptoms, while access to public services in the neighborhood was inversely related to parenting stimulating practices. No other neighborhood characteristics showed a significant association with the outcomes. Conclusion: The findings revealed both expected and unexpected associations between neighborhood characteristics, maternal depressive symptoms, and parenting practices. Overall, these findings contribute to our understanding of the multifaceted dynamics between community environments and maternal well-being. They also shed important light on the various ways in which one's environment can influence maternal mental health and parenting behaviors.

Objective: to understand children's perspective on the territory in which they live. Method: a qualitative study carried out at a public university in northeastern Brazil in July 2023. Interviews with 15 children aged between seven and 12 were conducted after parental authorization and the children's consent. Content analysis used the Territorial Impact Dimensions model as a theoretical framework: Physical, Socioeconomic, Services, Social Network, and Governance. Results: the children recognize poverty (Socioeconomic Dimension), violence (Social Network Dimension), and the precariousness of the physical structure of the neighborhoods (Physical Dimension). Living with neighbors/friends (Social Network Dimension), the school (Services Dimension), and the playgrounds (Physical Dimension) make it easier to cope with the problems. They call for greater efforts from government officials to improve the area. Final considerations: considering the child's perspective shows respect and encourages their active role in planning strategic actions, favoring the effectiveness of actions to promote child health.

Objetivo: comprender la perspectiva del niño sobre el territorio en el que vive. Método: estudio cualitativo realizado en una universidad pública del noreste de Brasil, en julio/2023. Se realizaron entrevistas con 15 niños de siete a 12 años después del permiso de los padres y el consentimiento de los niños. El Análisis de Contenido tomó como referente teórico el modelo de Dimensiones de Impacto Territorial: Física, Socioeconómica, Servicios, Red Social y Gobernanza. Resultados: los niños reconocen la pobreza (Dimensión Socioeconómica), la violencia (Dimensión Red Social) y la precariedad de la estructura física de los barrios (Dimensión Física). Vivir con vecinos/amigos (Dimensión de Red Social), la escuela (Dimensión de Servicios) y los parques infantiles (Dimensión Fisica) facilita afrontar los problemas. Piden mayor esfuerzo a los gobiernos para mejorar el territorio. Consideraciones finales: considerar la perspectiva del niño demuestra respeto y fomenta su papel activo en la planificación de acciones estratégicas, favoreciendo la eficacia de las acciones de promoción de la salud infantil.

Objetivo: compreender a perspectiva da criança sobre o território em que ela vive. Método: estudo qualitativo realizado em uma universidade pública do nordeste do Brasil, em julho/2023. Entrevistas com 15 crianças de sete a 12 anos foram conduzidas após a autorização dos pais e o consentimento das crianças. Análise de Conteúdo tomou como referencial teórico o modelo das Dimensões de Impacto do Território: Física, Socioeconômica, Serviços, Rede Social e Governança. Resultados: as crianças reconhecem a pobreza (Dimensão Socioeconômica), a violência (Dimensão Rede Social) e a precariedade da estrutura física dos bairros (Dimensão Física). Conviver com vizinhos/amigos (Dimensão Rede Social), a escola (Dimensão Serviços) e os parquinhos (Dimensão Física) amenizam o enfrentamento dos problemas. Elas pedem maior esforço dos governantes para as melhorias no território. Considerações finais: considerar a perspectiva da criança demonstra respeito, e incentiva seu papel ativo no planejamento de ações estratégicas, favorecendo a efetividade das ações de promoção da saúde infantil.

This work proposes µGUIDE: a general Bayesian framework to estimate posterior distributions of tissue microstructure parameters from any given biophysical model or signal representation, with exemplar demonstration in diffusion-weighted magnetic resonance imaging. Harnessing a new deep learning architecture for automatic signal feature selection combined with simulation-based inference and efficient sampling of the posterior distributions, µGUIDE bypasses the high computational and time cost of conventional Bayesian approaches and does not rely on acquisition constraints to define model-specific summary statistics. The obtained posterior distributions allow to highlight degeneracies present in the model definition and quantify the uncertainty and ambiguity of the estimated parameters.

Abstract Objective: To compare child health booklet (CHB) use and filling out among mothers who were or were not Bolsa Família Program (BFP) beneficiaries. Methods: Cross-sectional study with mothers of children

According to the FAO/WHO guidelines, selection of probiotics requires the assessment of survival under gastrointestinal stress and adhesion to human epithelial cells. These attributes were evaluated on Akkermansia muciniphila ATCC BAA-835 simulating the gastrointestinal transit (GIT) immediately followed by adhesion to human intestinal cell lines (CaCo2, HT-29, and HT-29-MTX) as an alternative approach to in vitro methods performed with fresh cells in each trial. The survival rate after GIT, as determined by plate counts and fluorescent probes, was significantly higher for A. muciniphila (about 8 Log CFU/mL) than for the probiotic Lacticaseibacillus rhamnosus GG ATCC 53103 (about 3 Log CFU/mL). The use of Live/Dead assay highlighted that A. muciniphila forms cell aggregates in the gastric phase as protective mechanism, explaining its high viability in the intestine. The rate of adhesion to human cell lines was always lower for strains tested after simulated GIT than for strains that did not undergo simulated GIT. Akkermansia muciniphila exhibited significantly higher adhesion than Lbs. rhamnosus GG, particularly to the mucus-secreting HT-29-MTX cells across a range of concentrations (2–8 Log CFU/mL). Finally, the bioinformatic analysis of A. muciniphila proteome confirmed the Amuc_1434 as a potential factor in binding to the human MUC2 protein.

Abstract Pathological data showed focal inflammation and regions of diffuse neuronal loss in the cortex of people with multiple sclerosis (MS). In this work, we applied a novel model (“soma and neurite density imaging (SANDI)”) to multishell diffusion-weighted MRI data acquired in healthy subjects and people with multiple sclerosis (pwMS), in order to investigate inflammation and degeneration-related changes in the cortical tissue of pwMS. We aimed to (i) establish whether SANDI is applicable in vivo clinical data; (ii) investigate inflammatory and degenerative changes using SANDI soma fraction (f soma )—a marker of cellularity—in both cortical lesions and in the normal-appearing-cortex and (iii) correlate SANDI f soma with clinical and biological measures in pwMS. We applied a simplified version of SANDI to a clinical scanners. We then provided evidence that pwMS exhibited an overall decrease in cortical SANDI f soma compared to healthy subjects, suggesting global degenerative processes compatible with neuronal loss. On the other hand, we have found that progressive pwMS showed a higher SANDI f soma in the outer part of the cortex compared to relapsing–remitting pwMS, possibly supporting current pathological knowledge of increased innate inflammatory cells in these regions. A similar finding was obtained in subpial lesions in relapsing–remitting patients, reflecting existing pathological data in these lesion types. A significant correlation was found between SANDI f soma and serum neurofilament light chain—a biomarker of inflammatory axonal damage—suggesting a relationship between SANDI soma fraction and inflammatory processes in pwMS again. Overall, our data show that SANDI f soma is a promising biomarker to monitor changes in cellularity compatible with neurodegeneration and neuroinflammation in the cortex of MS patients.

Introduction Social environments can influence parents’ caregiving capacities and the quality of nurturing care provided to children. These links, in turn, can shape children’s developmental outcomes over the life course. We aimed to examine the relationship between maternal perceived safety at home and in the neighbourhood and maternal parenting practices in low-income and middle-income countries (LMICs).Method We combined cross-sectional data from the Multiple Indicator Cluster Surveys in 15 LMICs (2018–2019). Mothers of children aged 36–59 months were included in the sample. We assessed maternal perceived safety at home and in the neighbourhood and two parenting outcomes of maternal stimulation and discipline. We used multiple logistic regression models to estimate the associations while adjusting for sociodemographic characteristics and maternal well-being in the pooled sample. Also, analyses were performed for each country separately.Results After adjusting for covariates, maternal perceived safety at home was associated with increased odds of high maternal stimulation (OR: 1.15, 95% CI: 1.01; 1.32) and lower odds of aggressive psychological discipline (OR: 0.87, 95% CI: 0.77; 0.98). Maternal perception of safety in the neighbourhood was associated with lower odds of aggressive psychological discipline (OR: 0.79, 95% CI: 0.71; 0.88), aggressive physical discipline (OR: 0.87, 95% CI: 0.77; 0.98) and non-violent discipline (OR: 0.78, 95% CI: 0.63; 0.95).Conclusion Maternal perceived safety at home and in the neighbourhood was positively associated with improved parenting behaviours with young children in LMICs. Interventions that address safety and security at home and across communities may have the potential to enhance maternal well-being and parenting practices to promote integral child development.

Context: In Uruguay, numerous Pinus taeda plantations are at final-turn age, but they still do not have commercial destination and are exported as green-wood logs. For the development of this sector, it is necessary to strive towards a comprehensive processing of this resource. Method: This work focused on analyzing the use of Pinus taeda wood available in the country to produce brown kraft pulp with a kappa number of 80, which can be used to make packaging paper. As raw materials, we employed by-products from the mechanical wood-transformation industry (wood chips and thinning wood) and final-turn wood. Pulping tests were carried out, varying the alkali charge and the H-factor while aiming for a kappa number of 80. The viscosity, pulping, and rejection yield were measured in the pulps, and the pH and residual alkali content were evaluated in black liquor. Results: Based on the results, the best pulping conditions were an active alkali charge of 14% (Na2O) and an H-factor of 1260 for sawmill chips and thinning wood, as well as an active alkali charge of 14% (Na2O) and an H-factor of 1080 for final-turn wood. The pulp obtained with sawmill chips exhibited the most resistant fibers, and the final-turn wood pulp was the most sensitive to the refining process. Under the aforementioned conditions, the paper properties of laboratory-produced pulp are comparable with those of commercial pulp. Conclusions: This indicates that it is technologically possible to produce brown kraft pulp from Uruguayan Pinus taeda wood, with adequate quality to produce packaging paper

Introduction Huntington’s disease (HD) is an inherited neurodegenerative disease causing progressive cognitive and motor decline, largely due to basal ganglia (BG) atrophy. Rhythmic training offers promise as therapy to counteract BG-regulated deficits. We have developed HD-DRUM, a tablet-based app to enhance movement synchronisation skills and improve cognitive and motor abilities in people with HD. This paper outlines a randomised controlled unblinded trial protocol to determine the feasibility of a larger effectiveness trial for HD-DRUM. Additionally, the trial investigates cognitive and motor function measures, along with brain microstructure, aiming to advance our understanding of the neural mechanisms underlying training effects.Methods, design and analysis 50 individuals with HD, confirmed by genetic testing, and a Total Functional Capacity (TFC) score of 9–13, will be recruited into a two-arm randomised controlled feasibility trial. Consenting individuals with HD will be randomised to the intervention group, which entails 8 weeks of at-home usage of HD-DRUM or a usual-activity control group. All participants will undergo cognitive and motor assessments, alongside ultra-strong gradient (300 mT/m) brain microstructural MRI before and after the 8-week period. The feasibility assessment will encompass recruitment, retention, adherence and acceptability of HD-DRUM following prespecified criteria. The study will also evaluate variations in cognitive and motor performance and brain microstructure changes resulting from the intervention to determine effect size estimates for future sample size calculations.Ethics and dissemination The study has received favourable ethical opinion from the Wales Research Ethics Committee 2 (REC reference: 22/WA/0147) and is sponsored by Cardiff University (SPON1895-22) (Research Integrity, Governance and Ethics Team, Research & Innovation Services, Cardiff University, second Floor, Lakeside Building, University Hospital of Wales, Cardiff, CF14 4XW). Findings will be disseminated to researchers and clinicians in peer-reviewed publications and conference presentations, and to participants, carers and the general public via newsletters and public engagement activities. Data will be shared with the research community via the Enroll-HD platform.Trial registration number ISRCTN11906973.

ABSTRACT: This study aimed to evaluate the effect of bovine leukemia virus (BLV) on the systemic profile of naturally infected dairy heifers during the transition period. Pregnant Holstein and Jersey heifers (n=24) were distributed in pairs into two experimental groups: (BLV+) and (BLV-). Animals in the BLV+ group were divided into two subgroups based on the median BLV proviral load (high and low). The animals were then assessed at weeks -3, -2, -1, calving time (0), +1, +2, and +3. Blood samples were obtained for hematological and biochemical analyses, as well as haptoglobin measurements. Farm BLV screening revealed a herd BLV prevalence of 57.25% and heifer BLV prevalence of 38.7%. Mean corpuscular hemoglobin concentration was the only hematological variable for which group interaction was observed, with BLV+ cattle having higher values (33.29 ± 3.39%) than BLV- cattle (31.08 ± 2.31%). Aspartate aminotransferase activity was higher in the BLV+ heifers. The BLV+ group had greater incidence of inflammation (haptoglobin ≥ 2.0 mg/dL). Fibrinogen concentrations were also higher at weeks 0 and +1 in BLV+ heifers than in BLV- heifers. A high proviral load affected total leukocyte and lymphocyte count; however, this profile was not observed in the low proviral load and paired BLV- heifers. To our knowledge, this is the first study to report the impact of BLV infection on the health of dairy heifers during the transition period, demonstrating the effect of proviral load on white blood cell changes and early inflammation in infected animals.