Search

Abstract Background White lupin (Lupinus albus L.) is a high-protein Old World grain legume with remarkable food and feed production interest. It is sown in autumn or early spring, depending on the local agroclimatic conditions. This study aimed to identify allelic variants associated with vernalization responsiveness, in order to improve our knowledge of legume flowering regulatory pathways and develop molecular selection tools for the desired phenology as required for current breeding and adaptation to the changing climate. Results Some 120 white lupin accessions originating from a wide range of environments of Europe, Africa, and Asia were phenotyped under field conditions in three environments with different intensities of vernalization, namely, a Mediterranean and a subcontinental climate sites of Italy under autumn sowing, and a suboceanic climate site of France under spring sowing. Two hundred sixty-two individual genotypes extracted from them were phenotyped in a greenhouse under long-day photoperiod without vernalization. Phenology data, and marker data generated by Diversity Arrays Technology sequencing (DArT-seq) and by PCR-based screening targeting published quantitative trait loci (QTLs) from linkage map and newly identified insertion/deletion polymorphisms in the promoter region of the FLOWERING LOCUS T homolog, LalbFTc1 gene (Lalb_Chr14g0364281), were subjected to a genome-wide association study (GWAS). Population structure followed differences in phenology and isolation by distance pattern. The GWAS highlighted numerous loci significantly associated with flowering time, including four LalbFTc1 gene promoter deletions: 2388 bp and 2126 bp deletions at the 5’ end, a 264 bp deletion in the middle and a 28 bp deletion at the 3’ end of the promoter. Besides LalbFTc1 deletions, this set contained DArT-seq markers that matched previously published major QTLs in chromosomes Lalb_Chr02, Lalb_Chr13 and Lalb_Chr16, and newly discovered QTLs in other chromosomes. Conclusions This study highlighted novel QTLs for flowering time and validated those already published, thereby providing novel evidence on the convergence of FTc1 gene functional evolution into the vernalization pathway in Old World lupin species. Moreover, this research provided the set of loci specific for extreme phenotypes (the earliest or the latest) awaiting further implementation in marker-assisted selection for spring- or winter sowing.

Abstract Europe imports large amounts of soybean that are predominantly used for livestock feed, mainly sourced from Brazil, USA and Argentina. In addition, the demand for GM-free soybean for human consumption is project to increase. Soybean has higher protein quality and digestibility than other legumes, along with high concentrations of isoflavones, phytosterols and minerals that enhance the nutritional value as a human food ingredient. Here, we examine the potential to increase soybean production across Europe for livestock feed and direct human consumption, and review possible effects on the environment and human health. Simulations and field data indicate rainfed soybean yields of 3.1 ± 1.2 t ha−1 from southern UK through to southern Europe (compared to a 3.5 t ha−1 average from North America). Drought-prone southern regions and cooler northern regions require breeding to incorporate stress-tolerance traits. Literature synthesized in this work evidenced soybean properties important to human nutrition, health, and traits related to food processing compared to alternative protein sources. While acknowledging the uncertainties inherent in any modelling exercise, our findings suggest that further integrating soybean into European agriculture could reduce GHG emissions by 37–291 Mt CO2e year−1 and fertiliser N use by 0.6–1.2 Mt year−1, concurrently improving human health and nutrition.

Genomic selection (GS) has become an indispensable tool in modern plant breeding, particularly for complex traits. This study aimed to assess the efficacy of GS in predicting rust (Uromyces pisi) resistance in pea (Pisum sativum), using a panel of 320 pea accessions and a set of 26,045 Silico-Diversity Arrays Technology (Silico-DArT) markers. We compared the prediction abilities of different GS models and explored the impact of incorporating marker × environment (M×E) interaction as a covariate in the GBLUP (genomic best linear unbiased prediction) model. The analysis included phenotyping data from both field and controlled conditions. We assessed the predictive accuracies of different cross-validation strategies and compared the efficiency of using single traits versus a multi-trait index, based on factor analysis and ideotype-design (FAI-BLUP), which combines traits from controlled conditions. The GBLUP model, particularly when modified to include M×E interactions, consistently outperformed other models, demonstrating its suitability for traits affected by complex genotype-environment interactions (GEI). The best predictive ability (0.635) was achieved using the FAI-BLUP approach within the Bayesian Lasso (BL) model. The inclusion of M×E interactions significantly enhanced prediction accuracy across diverse environments in GBLUP models, although it did not markedly improve predictions for non-phenotyped lines. These findings underscore the variability of predictive abilities due to GEI and the effectiveness of multi-trait approaches in addressing complex traits. Overall, our study illustrates the potential of GS, especially when employing a multi-trait index like FAI-BLUP and accounting for M×E interactions, in pea breeding programs focused on rust resistance.

Objetivos: describir un caso de diagnóstico prenatal de síndrome de Freeman-Sheldon mediante hallazgos ecográficos y secuenciación completa del exoma fetal. Materiales y métodos: mujer de 33 años, con antecedentes de hipotiroidismo en tratamiento, a quien en semana 19 se realizó ecografía de detalle anatómico, en la cual se observaron deformidades en el feto en más de dos áreas corporales (extremidades superiores e inferiores), sugiriendo el diagnóstico de artrogriposis. Posteriormente, se brindó asesoría genética y se realizó amniocentesis en semana 20 de gestación, con análisis de la hibridación in situ por fluorescencia, seguido de secuenciación completa del exoma fetal. Este último examen permitió identificar una variante patogénica heterocigota en el gen MYH3, la cual se asocia con la artrogriposis distal tipo 2A. Conclusiones: la realización de la secuenciación completa de exoma fetal es un factor clave para identificar la mutación del gen MYH3, y confirma que las deformidades evidenciadas por ultrasonido estaban relacionadas con la artrogriposis distal tipo 2A. Es importante hacer la secuenciación de exoma fetal en fetos que muestren hallazgos de malformaciones articulares en el ultrasonido prenatal.

(1) Background: In recent years, there has been a growing interest in tooth-derived materials as valuable alternatives to synthetic biomaterials for preventing alveolar ridge dimensional changes. This study aimed to evaluate the histological and clinical differences between alveolar ridge preservation procedures in the maxilla and mandible using demineralized dentin treated with Tooth Transformer®. (2) Methods: A total of 178 patients in good general health were enrolled, with 187 post-extractive sockets lacking buccal and/or palatal bone walls. Alveolar socket preservation procedures and histological evaluations were performed. The sites were divided into two groups: Group A (99 mandibular samples) and Group B (108 maxillary samples). After 5 months (±1 month), single bone biopsies were performed for histologic and histomorphometric analysis. (3) Results: Clinical outcomes demonstrated a good healing of hard and soft tissues with an effective maintenance of bone architecture in both groups. Histomorphometric analysis revealed a total bone volume of 50.33% (±14.86) in Group A compared to 43.53% (±12.73) in Group B. The vital new bone volume was 40.59% (±19.90) in Group A versus 29.70% (±17.68) in Group B, with residual graft dentin material volume at 7.95% (±9.85) in Group A compared to 6.75% (±9.62) in Group B. (4) Conclusions: These results indicate that tooth-derived material supports hard tissue reconstruction by following the structure of the surrounding bone tissue. A 6.8% difference observed between the maxilla and mandible reflects the inherent disparities in natural bone structures in these regions. This suggests that the bone regeneration process after tooth extraction adheres to an anatomical functional pattern that reflects the specific bone characteristics of each area, thus contributing to the preservation of the morphology and functionality of the surrounding bone tissue.

Salinity and Phoma medicaginis infection represent significant challenges for alfalfa cultivation in South Africa, Europe, Australia, and, particularly, Tunisia. These constraints have a severe impact on both yield and quality. The primary aim of this study was to establish the genetic basis of traits associated with biomass and growth of 129 Medicago sativa genotypes through genome-wide association studies (GWAS) under combined salt and P. medicaginis infection stresses. The results of the analysis of variance (ANOVA) indicated that the variation in these traits could be primarily attributed to genotype effects. Among the test genotypes, the length of the main stem, the number of ramifications, the number of chlorotic leaves, and the aerial fresh weight exhibited the most significant variation. The broad-sense heritability (H²) was relatively high for most of the assessed traits, primarily due to genetic factors. Cluster analysis, applied to morpho-physiological traits under the combined stresses, revealed three major groups of accessions. Subsequently, a GWAS analysis was conducted to validate significant associations between 54,866 SNP-filtered single-nucleotide polymorphisms (SNPs) and seven traits. The study identified 27 SNPs that were significantly associated with the following traits: number of healthy leaves (two SNPs), number of chlorotic leaves (five SNPs), number of infected necrotic leaves (three SNPs), aerial fresh weight (six SNPs), aerial dry weight (nine SNPs), number of ramifications (one SNP), and length of the main stem (one SNP). Some of these markers are related to the ionic transporters, cell membrane rigidity (related to salinity tolerance), and the NBS_LRR gene family (associated with disease resistance). These findings underscore the potential for selecting alfalfa genotypes with tolerance to the combined constraints of salinity and P. medicaginis infection.

Diabetic cardiomyopathy (DCM) represents one of the typical complications associated with diabetes. It has been described as anomalies in heart function and structure, with consequent high morbidity and mortality. DCM development can be described by two stages; the first is characterized by left ventricular hypertrophy and diastolic dysfunction, and the second by heart failure (HF) with systolic dysfunction. The proposed mechanisms involve cardiac inflammation, advanced glycation end products (AGEs) and angiotensin II. Furthermore, different studies have focused their attention on cardiomyocyte death through the different mechanisms of programmed cell death, such as apoptosis, autophagy, necrosis, pyroptosis and ferroptosis. Exosome release, adipose epicardial tissue and aquaporins affect DCM development. This review will focus on the description of the mechanisms involved in DCM progression and development.

Well-performing genomic prediction (GP) models for polygenic traits and molecular marker sets for oligogenic traits could be useful for identifying promising genetic resources in germplasm collections, setting core collections, and establishing molecular variety distinction. This study aimed at (i) defining GP models and key marker sets for predicting 15 agronomic or morphological traits in germplasm collections, (ii) verifying the GP model usefulness also for selection in breeding programs, (iii) investigating the consistency between molecular and phenotypic diversity patterns, and (iv) identifying genomic regions associated with to the target traits. The study was based on phenotyping data and over 41,000 genotyping-by-sequencing-generated SNP markers of 220 landraces or old cultivars belonging to a world germplasm collection and 11 modern cultivars. Non-metric multi-dimensional scaling (NMDS) and an analysis of population genetic structure indicated a high level of genetic differentiation of material from Western Asia, a major West-East diversity gradient, and quite limited genetic diversity of the improved germplasm. Mantel’s test revealed a low correlation (r = 0.12) between phenotypic and molecular diversity, which increased (r = 0.45) when considering only the molecular diversity relative to significant SNPs from genome-wide association analyses. These analyses identified, inter alia, several areas of chromosome 6 involved in a largely pleiotropic control of vegetative or reproductive organ pigmentation. We found various significant SNPs for grain and straw yield under severe drought and onset of flowering, and one SNP on chromosome 5 for grain protein content. GP models displayed moderately high predictive ability (0.43 to 0.61) for protein content, grain and straw yield, and onset of flowering, and high predictive ability (0.76) for individual seed weight, based on intra-population, intra-environment cross-validations. The inter-population, inter-environment assessment of the models trained on the germplasm collection for breeding material of three recombinant inbred line (RIL) populations, which was challenged by much narrower diversity of the material, over eight-fold less available markers and quite different test environments, led to an overall loss of predictive ability of about 40% for seed weight, 50% for protein content and straw yield, and 60% for onset of flowering, and no prediction for grain yield. Within-RIL population predictive ability differed among populations.

Bone health is the result of a tightly regulated balance between bone modeling and bone remodeling, and alterations of these processes have been observed in several diseases both in adult and pediatric populations. The imbalance in bone remodeling can ultimately lead to osteoporosis, which is most often associated with aging, but contributing factors can already act during the developmental age, when over a third of bone mass is accumulated. The maintenance of an adequate bone mass is influenced by genetic and environmental factors, such as physical activity and diet, and particularly by an adequate intake of calcium and vitamin D. In addition, it has been claimed that the integration of specific nutraceuticals such as resveratrol, anthocyanins, isoflavones, lycopene, curcumin, lutein, and β-carotene and the intake of bioactive compounds from the diet such as honey, tea, dried plums, blueberry, and olive oil can be efficient strategies for bone loss prevention. Nutraceuticals and functional foods are largely used to provide medical or health benefits, but there is an urge to determine which products have adequate clinical evidence and a strong safety profile. The aim of this review is to explore the scientific and clinical evidence of the positive role of nutraceuticals and functional food in bone health, focusing both on molecular mechanisms and on real-world studies.

In patients with end-stage renal failure requiring hemodialysis, autogenous arteriovenous fistula (AVF) is preferred over tunneled dialysis catheters due to lower complications and costs. However, AVF maturation failure remains a common issue due to small vein size, multiple venipunctures, and other factors. Guidelines recommend using vessels of >2 mm for forearm AVFs and >3 mm for upper arm AVFs. This study investigates the use of intraoperative Doppler ultrasound (DUS)-guided Balloon-Assisted Maturation (BAM) with drug-eluting balloons (DEB) during initial AVF creation. Data from 114 AVF procedures, of which 27.2% underwent BAM, were analyzed. BAM was performed in 25 distal radio-cephalic and 6 proximal brachio-cephalic AVFs. With DUS guidance, vein stenosis was identified and treated using DEB. Technical success was achieved in all cases, with no early mortality. Early BAM-related complications were minimal, and no AVF thrombosis occurred. AVF maturation time was 15 days (SD: 3), and no further complications were reported during a mean follow-up of 10.38 months. Using BAM with DEB during AVF creation led to successful maturation and dialysis use without the need for secondary procedures. This study emphasizes the importance of identifying AVF failure risk early and utilizing DUS-guided procedures to enhance AVF outcomes. A more liberal use of intraoperative BAM could limit reinterventions in patients undergoing AVFs.

In the original publication [...]

Mast cells (MCs) are derived from hematopoietic progenitors, mature in vascularized tissues, and participate in innate and acquired immunity. Neuroinflammation is a highly debated topic in the biomedical literature; however, the impact of tumor necrosis factor (TNF) and IL-33 on MCs in the brain has not been widely addressed. MCs can be activated by IgE binding to FcεRI, as well as by different antigens. After activation, MCs mediate various immunological and inflammatory responses through TNF and IL-33. TNF has two receptors: TNFR1, a p55 molecule, and TNFR2, a p75 molecule. This cytokine is the only one of its kind to be stored in the granules of MCs and can also be generated by de novo synthesis via mRNA. In the central nervous system (CNS), TNF is produced almost exclusively by microglial cells, neurons, astrocytes, and, minimally, by endothelial cells. After its release into brain tissue, TNF rapidly induces the adhesion molecules endothelial leukocyte adhesion molecule 1 (ELAM-1), intercellular adhesion molecule 1 (ICAM-1), and vascular cell adhesion molecule 1 (VCAM-1) in endothelial cells. TNF causes the chemoattraction of neutrophils by inducing several molecules, including CXC chemokines (IL-8). Both MCs and microglial cells act as a primary barrier against foreign molecules in the CNS, producing pro-inflammatory cytokines such as IL-33. IL-33 belongs to the IL-1 family, is activated through the ST2L/IL1-RAcP receptor complex, and mediates both the innate and adaptive immune response. IL-33 is a nuclear transcription factor expressed in the brain, where it induces pro-inflammatory cytokines (TNF and IL-1) and chemokines (CCL2, CCL3, CCL5, and CXCL10). Therefore, MCs and microglia in the CNS are a source of pro-inflammatory cytokines, including TNF and IL-33, that mediate many brain diseases. The inhibition of TNF and IL-33 may represent a new therapeutic approach that could complement existing neuroinflammatory therapies.

Abstract Background Two Centuries from today, Karl Friedrich Burdach attributed the nomenclature “arcuate fasciculus” to a white matter (WM) pathway connecting the frontal to the temporal cortices by arching around the Sylvian fissure. Although this label remained essentially unvaried, the concepts related to it and the characterization of the structural properties of this bundle evolved along with the methodological progress of the past years. Concurrently, the functional relevance of the arcuate fasciculus (AF) classically restricted to the linguistic domain has extended to further cognitive abilities. These features make it a relevant structure to consider in a large variety of neurosurgical procedures. Objective Herein, we build on our previous review uncovering the connectivity provided by the Superior Longitudinal System, including the AF, and provide a handy representation of the structural organization of the AF by considering the frequency of defined reports in the literature. By adopting the same approach, we implement an account of which functions are mediated by this WM bundle. We highlight how this information can be transferred to the neurosurgical field by presenting four surgical cases of glioma resection requiring the evaluation of the relationship between the AF and the nearby structures, and the safest approaches to adopt. Conclusions Our cumulative overview reports the most common wiring patterns and functional implications to be expected when approaching the study of the AF, while still considering seldom descriptions as an account of interindividual variability. Given its extension and the variety of cortical territories it reaches, the AF is a pivotal structure for different cognitive functions, and thorough understanding of its structural wiring and the functions it mediates is necessary for preserving the patient's cognitive abilities during glioma resection.

Introduction: Anal fissure (AF) poses a common challenge in clinical practice, prompting various treatment approaches. This multicenter study, conducted by the Italian Society of Colorectal Surgery, aimed to assess treatment trends in AF over a 10 year period. Methods: A survey of proctologists and retrospective analysis of patient records were conducted to evaluate treatment modalities and outcomes across six different clinical scenarios based on AF presentation (acute/chronic) stratified by sphincter function (normal/hypertonic/hypotonic). Results: Analysis of data from 17 principal investigators and 22,016 patients revealed significant variability in treatment approaches, influenced by factors such as symptom duration, anal tone, and surgeon preference. Conservative treatments were commonly utilized, while surgical interventions were reserved for refractory cases. Specifically, pharmaceutical treatment was administered to 66–75% of patients in cases of acute AF and 63–67% for chronic AF, while 10–15% underwent anal dilation, and < 2% received botulinum toxin injection. Among medical treatments, nifedipine with lidocaine and glycerin film-forming ointments were the most utilized. The most performed surgical techniques were fissurectomy and anoplasty, except for patients with chronic AF and hypertonic sphincter where sphincterotomy prevailed. Trends in treatment utilization varied depending on the clinical scenario, with notable shifts observed over time. Conclusions: This study provides insights into the evolving landscape of AF management, highlighting the need for further research to elucidate optimal treatment strategies and improve patient outcomes. [ABSTRACT FROM AUTHOR]

(1) Background: In recent years, there has been a growing interest in tooth-derived materials as valuable alternatives to synthetic biomaterials for preventing alveolar ridge dimensional changes. This study aimed to evaluate the histological and clinical differences between alveolar ridge preservation procedures in the maxilla and mandible using demineralized dentin treated with Tooth Transformer®. (2) Methods: A total of 178 patients in good general health were enrolled, with 187 post-extractive sockets lacking buccal and/or palatal bone walls. Alveolar socket preservation procedures and histological evaluations were performed. The sites were divided into two groups: Group A (99 mandibular samples) and Group B (108 maxillary samples). After 5 months (±1 month), single bone biopsies were performed for histologic and histomorphometric analysis. (3) Results: Clinical outcomes demonstrated a good healing of hard and soft tissues with an effective maintenance of bone architecture in both groups. Histomorphometric analysis revealed a total bone volume of 50.33% (±14.86) in Group A compared to 43.53% (±12.73) in Group B. The vital new bone volume was 40.59% (±19.90) in Group A versus 29.70% (±17.68) in Group B, with residual graft dentin material volume at 7.95% (±9.85) in Group A compared to 6.75% (±9.62) in Group B. (4) Conclusions: These results indicate that tooth-derived material supports hard tissue reconstruction by following the structure of the surrounding bone tissue. A 6.8% difference observed between the maxilla and mandible reflects the inherent disparities in natural bone structures in these regions. This suggests that the bone regeneration process after tooth extraction adheres to an anatomical functional pattern that reflects the specific bone characteristics of each area, thus contributing to the preservation of the morphology and functionality of the surrounding bone tissue. [ABSTRACT FROM AUTHOR]