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• Twin studies revealed a high genetic influence on diffusion and topological measures;. • A main role of heritability emerged for frontal and occipital regions;. • Also limbic system and commissural fibers showed a prominent influence of genes;. • More homogeneous studies are needed. Diffusion neuroimaging has emerged as an essential non-invasive technique to explore in vivo microstructural characteristics of white matter (WM), whose integrity allows complex behaviors and cognitive abilities. Studying the factors contributing to inter-individual variability in WM microstructure can provide valuable insight into structural and functional differences of brain among individuals. Genetic influence on this variation has been largely investigated in twin studies employing different measures derived from diffusion neuroimaging. In this context, we performed a comprehensive literature search across PubMed, Scopus and Web of Science of original twin studies focused on the heritability of WM. Overall, our results highlighted a consistent heritability of diffusion indices (i.e., fractional anisotropy, mean, axial and radial diffusivity), and network topology among twins. The genetic influence resulted prominent in frontal and occipital regions, in the limbic system, and in commissural fibers. To enhance the understanding of genetic influence on WM microstructure further studies in less heterogeneous experimental settings, encompassing all diffusion indices, are warranted. [ABSTRACT FROM AUTHOR]

Background: A train-the-trainer approach can effectively support the integration of new practice standards for health and social services professionals. This study describes the effects of an enhanced train-the-trainer program to support registered nurses and social workers working in primary care clinics in their understanding of the fundamental principles of primary care. Methods: We implemented an enhanced train-the-trainer program for registered nurses and social workers in six primary care clinics. We conducted a pre-post study using quantitative and qualitative data to assess trainers' and trainees' intention, commitment, and confidence in applying acquired knowledge. Results: We trained 11 trainers and 33 trainees. All the trainers and trainees were satisfied with the program. Trainers were less confident in their abilities as trainers following the training, especially regarding tailored coaching (p = 0.03). Trainees' commitment to becoming familiar with the functioning of their clinic (p = 0.05) and becoming part of the team increased significantly (p = 0.01); however, their intention to use their knowledge decreased (p = 0.02). Trainers and trainees identified organizational and professional barriers that may explain the observed decrease. Conclusion: An enhanced train-the-trainer program positively impacted registered nurses' and social workers' assimilation of the fundamental principles of primary care. Further research is needed to understand the long-term effects of train-the-trainer programs on primary care trainees and how these effects translate into patient care. [ABSTRACT FROM AUTHOR]

Summary: During the preparation of a taxonomic revision of Theobroma sensu lato (Malvaceae, Byttnerioideae), three new species of T. sect. Herrania were found: Theobroma globosum, T. nervosum and T. schultesii, which are described herein. Theobroma globosum and T. nervosum belong to T. sect. Herrania subsect. Subcymbicalyx, with species mostly found in the Amazon Basin, characterised, among other features, by petal ligules at least ten times longer than the petal claws. Theobroma schultesii is from T. sect. Herrania subsect. Herrania, with species with petal ligules less than ten times longer than the claw and is mainly found in the southern parts of the Caribbean Sea, the Pacific Ocean, western Colombia, and northern Ecuador. Theobroma globosum is diagnosed by the combination of spherical fruits with smaller leaflets and midrib proportions when compared to other species from the same region. Theobroma nervosum is identified by its toothed, obovate leaflets with secondary veins protruding beyond the leaflet margins, forming elongated projections across the entire leaflet. Theobroma schultesii exhibits a unique set of features in T. sect. Herrania subsect. Herrania, having both petiolulate leaflets and a cupuliform calyx. [ABSTRACT FROM AUTHOR]

Myrmecophagy is one of the most common dietary specializations among vertebrates. Ants are an important food resource for many lizard species. Here, we use a large dataset on ant consumption by lizards (345 species, 33 families) to explore evolutionary and ecological correlates of myrmecophagy across the evolutionary history of lizards. Based on literature and previous empirical work, we develop and test the following hypotheses about myrmecophagy: (i) it does not occur randomly across Squamata; it is correlated with (ii) foraging mode, (iii) habitat, (iv) body size, (v) aridity, and/or (vi) species range size. We found that ant ingestion is not distributed randomly in the phylogeny, with higher ingestion concentrated in some Iguania. Myrmecophagy also evolved in Lacertoidea and it is a derived trait with relatively recent origin. Foraging mode, habitat, body size, and aridity do not influence ant ingestion. Species with smaller range sizes show high variability in ant ingestion, whereas lizards with larger ranges tend to eat a lower proportion of ants. This result confirms the general ecological pattern that specialization is more common in narrowly distributed species. We suggest that future studies should also explore dietary specialization more broadly and provide a better taxonomic resolution of ant species in the diet of lizards. [ABSTRACT FROM AUTHOR]

Donkeys (Equus asinus) have been used extensively in agriculture and transportations since their domestication, ca. 5000–7000 years ago, but the increased mechanization of the last century has largely spoiled their role as burden animals, particularly in developed countries. Consequently, donkey breeds and population sizes have been declining for decades, and the diversity contributed by autochthonous gene pools has been eroded. Here, we examined coding-region data extracted from 164 complete mitogenomes and 1392 donkey mitochondrial DNA (mtDNA) control-region sequences to (i) assess worldwide diversity, (ii) evaluate geographical patterns of variation, and (iii) provide a new nomenclature of mtDNA haplogroups. The topology of the Maximum Parsimony tree confirmed the two previously identified major clades, i.e. Clades 1 and 2, but also highlighted the occurrence of a deep-diverging lineage within Clade 2 that left a marginal trace in modern donkeys. Thanks to the identification of stable and highly diagnostic coding-region mutational motifs, the two lineages were renamed as haplogroup A and haplogroup B, respectively, to harmonize clade nomenclature with the standard currently adopted for other livestock species. Control-region diversity and population expansion metrics varied considerably between geographical areas but confirmed North-eastern Africa as the likely domestication center. The patterns of geographical distribution of variation analyzed through phylogenetic networks and AMOVA confirmed the co-occurrence of both haplogroups in all sampled populations, while differences at the regional level point to the joint effects of demography, past human migrations and trade following the spread of donkeys out of the domestication center. Despite the strong decline that donkey populations have undergone for decades in many areas of the world, the sizeable mtDNA variability we scored, and the possible identification of a new early radiating lineage further stress the need for an extensive and large-scale characterization of donkey nuclear genome diversity to identify hotspots of variation and aid the conservation of local breeds worldwide. [ABSTRACT FROM AUTHOR]

Background: Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of diseases of the myocardium. With the rapid evolution in laboratory investigations, genetic background is increasingly determined including many genes with variable penetrance and expressivity. Biallelic NEXN variants are rare in humans and associated with poor prognosis: fetal and perinatal death or severe DCMs in infants. Case presentation: We describe two male infants with prenatal diagnosis of dilated cardiomyopathy with impaired ventricular contractility. One of the patients showed hydrops and polyhydramnios. Postnatally, a DCM with severely reduced systolic function was confirmed and required medical treatment. In patient 1, Whole Exome Sequencing (WES) revealed a homozygous NEXN variant: c.1156dup (p.Met386fs) while in patient 2 a custom Next Generation Sequencing (NGS) panel revealed the homozygous NEXN variant c.1579_1584delp. (Glu527_Glu528del). These NEXN variants have not been previously described. Unlike the unfavorable prognosis described for biallelic NEXN variants, we observed in both our patients a favorable clinical course over time. Conclusion: This report might help to broaden the present knowledge regarding NEXN biallelic variants and their clinical expression. It might be worthy to consider the inclusion of the NEXN gene sequencing in the investigation of pediatric patients with DCM. [ABSTRACT FROM AUTHOR]

Two‐scale topology optimization, combined with the design of microstructure families with a broad range of effective material parameters, is widely used in many fabrication applications to achieve a target deformation behavior for a variety of objects. The main idea of this approach is to optimize the distribution of material properties in the object partitioned into relatively coarse cells, and then replace each cell with microstructure geometry that mimics these material properties. In this paper, we focus on adapting this approach to complex shapes in situations when preserving the shape's surface is essential. Our approach extends any regular (i.e. defined on a regular lattice grid) microstructure family to complex shapes, by enriching it with tiles adapted to the geometry of the cut‐cell. We propose a fully automated and robust pipeline based on this approach, and we show that the performance of the regular microstructure family is only minimally affected by our extension while allowing its use on 2D and 3D shapes of high complexity. [ABSTRACT FROM AUTHOR]

This paper deals with a nonlocal model for a hyperbolic phase field system coupling the standard energy balance equation for temperature with a dynamic for the phase variable: the latter includes an inertial term and a nonlocal convolution-type operator where the family of kernels depends on a small parameter. We rigorously study the asymptotic convergence of the system as the approximating parameter tends to zero and we obtain at the limit the local system with the elliptic laplacian operator acting on the phase variable. Our analysis is based on some asymptotic properties on nonlocal-to-local convergence that have been recently and successfully applied to families of Cahn–Hilliard models. [ABSTRACT FROM AUTHOR]

Background and Aims Pragmatic studies designed to test interventions in everyday clinical settings can successfully complement the evidence from registration and explanatory clinical trials. The European consensus project PRACTICE-IBD was developed to identify essential criteria and address key methodological issues needed to design valid, comparative, pragmatic studies in inflammatory bowel diseases [BDs]. Methods Statements were issued by a panel of 11 European experts in IBD management and trial methodology, on four main topics: [I] study design; [II] eligibility, recruitment and organisation, flexibility; [III] outcomes; [IV] analysis. The consensus process followed a modified Delphi approach, involving two rounds of assessment and rating of the level of agreement [1 to 9; cut-off ≥7 for approval] with the statements by 18 additional European experts in IBD. Results At the first voting round, 25 out of the 26 statements reached a mean score ≥7. Following the discussion that preceded the second round of voting, it was decided to eliminate two statements and to split one into two. At the second voting round, 25 final statements were approved: seven for study design; six for eligibility, recruitment and organisation, flexibility; eight for outcomes; and four for analysis. Conclusions Pragmatic, randomised, clinical trials can address important questions in IBD clinical practice, and may provide complementary, high-level evidence, as long as they follow a methodologically rigorous approach. These 25 statements intend to offer practical guidance in the design of high-quality, pragmatic, clinical trials that can aid decision making in choosing a management strategy for IBDs. [ABSTRACT FROM AUTHOR]

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Recent European data show an increase in sexually transmitted infections (STIs), particularly N. gonorrhoeae, among young heterosexuals, surpassing pre-pandemic numbers. Italy's varied local health restrictions during the COVID-19 pandemic likely affected STI management and reporting. To evaluate COVID-19's impact on STI spread in Italy, we analyzed microbiological data from before and during the pandemic in an area with minimal restrictions on clinical services. This retrospective study (2017–2022) included 5503 subjects: 2586 from STI clinics (STD group) and 3687 diagnosed with primary infertility (ART group). Samples were tested for Mycoplasmas/Ureaplasmas, C. trachomatis, N. gonorrhoeae, and T. vaginalis by a multiplex PCR. During the pandemic, overall STI prevalence increased significantly (p < 0.01). U. parvum was the most frequent microorganism in the STD group (26.1% vs. 23.9%), with a notable increase in women (52.1% vs. 32.7%) (p < 0.001). C. trachomatis and M. hominis positive rates decreased significantly (p < 0.001 and p < 0.01, respectively). N. gonorrhoeae cases rose among young people (19–29), predominantly heterosexual, with high ciprofloxacin resistance. In the ART group, U. parvum was the most common infection, particularly in young infertile women (p = 0.01). This study indicates a notable rise in STIs among young people, including heterosexuals, despite social restrictions. The long-term impact of this trend requires further evaluation. [ABSTRACT FROM AUTHOR]

Transitional vegetation zones in the neotropics harbor high biodiversity and are threatened by advancing deforestation and climate change. Besides, the diversity patterns at multiple spatial scales are little understood. We investigated the woody flora of eight savanna sites over 700 km along the transition zone between the Cerrado and Amazonia. We assessed plant diversity at three spatial scales: alpha (α = local richness), beta (βJac = Jaccard mean dissimilarity of species composition between sites), and gamma (γ = regional diversity). We also measured the sites' contribution to beta diversity (LCBD) to unveil the ecological singularity of the transition. We found high local richness (α = ∼80 species per hectare) and high between-site dissimilarity (βJac = 0.651; LCBD = 0.354), which together contributed to high regional diversity (γ = 167). There was no relationship between floristic composition and proximity between sites or proximity to Amazonia. The locally dominant species (representing 80% or more of the total abundance) also differed across sites, indicating the unique composition of each community. This high floristic diversity at different spatial scales is severely threatened by extensive deforestation in recent decades and a paucity of protected areas, stressing the need for protected areas and conservation actions. [ABSTRACT FROM AUTHOR]

Long QT Syndrome type 8 (LQT8) is a cardiac arrhythmic disorder associated with Timothy Syndrome, stemming from mutations in the CACNA1C gene, particularly the G406R mutation. While prior studies hint at CACNA1C mutations' role in ventricular arrhythmia genesis, the mechanisms, especially in G406R presence, are not fully understood. This computational study explores how the G406R mutation, causing increased transmural dispersion of repolarization, induces and sustains reentrant ventricular arrhythmias. Using three-dimensional numerical simulations on an idealized left-ventricular model, integrating the Bidomain equations with the ten Tusscher-Panfilov ionic model, we observe that G406R mutation with 11% and 50% heterozygosis significantly increases transmural dispersion of repolarization. During S1-S4 stimulation protocols, these gradients facilitate conduction blocks, triggering reentrant ventricular tachycardia. Sustained reentry pathways occur only with G406R mutation at 50% heterozygosis, while neglecting transmural heterogeneities of action potential duration prevents stable reentry, regardless of G406R mutation presence. [ABSTRACT FROM AUTHOR]

This work investigates the well-posedness and optimal control of a sixth-order Cahn–Hilliard equation, a higher-order variant of the celebrated and well-established Cahn–Hilliard equation. The equation is endowed with a source term, where the control variable enters as a distributed mass regulator. The inclusion of additional spatial derivatives in the sixth-order formulation enables the model to capture curvature effects, leading to a more accurate depiction of isothermal phase separation dynamics in complex materials systems. We provide a well-posedness result for the aforementioned system when the corresponding nonlinearity of double-well shape is regular and then analyze a corresponding optimal control problem. For the latter, existence of optimal controls is established, and the first-order necessary optimality conditions are characterized via a suitable variational inequality. These results aim at contributing to improving the understanding of the mathematical properties and control aspects of the sixth-order Cahn–Hilliard equation, offering potential applications in the design and optimization of materials with tailored microstructures and properties. [ABSTRACT FROM AUTHOR]

Morphology is among the most important traits influencing the interaction of individual animals with their environments. Fossoriality reflects this functional association between morphology and the use of subterranean habitats and their associated environmental characteristics. Lizards in the families Gymnophthalmidae and Alopoglossidae are model organisms to examine the interplay between morphology and fossoriality because great morphological diversity exists among species, including varying degrees of body elongation and limb reduction, and they have a wide geographical distribution in the Neotropical region. We analysed the morphology of 101 microteiid species and created an index to evaluate their degree of fossoriality. From this index, we traced the evolution of fossoriality in these lizards and assessed its primary environmental correlates. We found that fossoriality evolved independently in several lineages, mainly associated with high temperature and low precipitation, characteristic of more arid and sandy environments. [ABSTRACT FROM AUTHOR]

Aim: The impact of climate change on biodiversity is often analysed under a stable evolutionary perspective focused on whether species can currently tolerate warmer climates. However, species may adapt to changes, and particularly under conditions of low habitat fragmentation, standing adaptive genetic variation can spread across populations tracking changing climates, increasing the potential for evolutionary rescue. Here, our aim is to integrate genomic data, niche modelling and landscape ecology to predict range shifts and the potential for evolutionary rescue. Location: The megadiverse Amazonian rainforest. Methods: We use genome–environment association analyses to search for candidate loci under environmental selection, while accounting for neutral genetic variation in a widespread Amazonian whiptail lizard (Teiidae: Kentropyx calcarata). We then model the distribution of individuals with genotypes adapted to different climate conditions. We predict range shifts for each genotype in distinct future climate change scenarios by integrating this information with dispersal constraints based on predicted scenarios of forest cover across Amazonia. The predicted ranges of each genotype were then overlapped to infer the potential for evolutionary rescue. Results: We find that the potential for evolutionary rescue and, therefore, a smaller degree of range loss buffering extinction risk in the future is considerably high, provided that current forest cover is retained and climate change is not extreme. However, under extreme environmental change scenarios, range loss will be high in central and southern Amazonia, irrespective of the degree of deforestation. Main Conclusions: Our results suggest that protecting the Amazonian rainforest against further deforestation and mitigating climate change to moderate scenarios until 2070 could foster evolutionary rescue of ectothermic organisms. These actions could prevent substantial biodiversity loss in Amazonia, emphasizing the importance of understanding species adaptability in maintaining biodiversity. [ABSTRACT FROM AUTHOR]

Simple Summary: Immune checkpoint inhibitors (ICIs) have witnessed significant success in systemic therapy of hepatocellular carcinoma, stimulating the transplant community to consider their use in the liver transplantation (LT) setting. This review provides an updated overview of the current evidence on ICI therapy before and after LT, discussing the associated pitfalls and remaining challenges. A particular focus is placed on the interactions between ICIs and immunosuppressive drugs, in order to identify predictive factors of good response, as well as critical aspects that should guide future research on the topic. Hepatocellular carcinoma (HCC) remains the leading oncological indication for liver transplantation (LT), with evolving and broadened inclusion criteria. Immune checkpoint inhibitors (ICIs) gained a central role in systemic HCC treatment and showed potential in the peri-transplant setting as downstaging/bridging therapy before LT or as a treatment for HCC recurrence following LT. However, the antagonistic mechanisms of action between ICIs and immunosuppressive drugs pose significant challenges, particularly regarding the risk of acute rejection (AR). This review analyzes the main signaling pathways targeted by ICI therapies and summarizes current studies on ICI therapy before and after LT. The literature on this topic is limited and highly heterogeneous, precluding definitive evidence-based conclusions. The use of ICIs before LT appears promising, provided that a sufficient wash-out period is implemented. In contrast, the results of post-LT ICI therapy do not support its wide clinical application due to high AR rates and overall poor response to treatment. In the future, modern graft preservation techniques might support the selection of good ICI responders, but data from high-level studies are urgently needed. [ABSTRACT FROM AUTHOR]