Search Results (346)

High-volume fly ash (FA) mitigates the expansion of magnesium oxide (MgO), and the uneven regional distributions of high-quality FA collectively limit the application of roller-compacted concrete admixed with MgO (M-RCC). This study evaluated the autoclave expansion and compressive strength of MgO-admixed cement paste and mortar, wherein phosphorus slag (PS) was used to partially or fully replace FA. The expansion mechanism within the MgO-FA-PS system was explored. Results show that the autoclave expansion of the mortar increased as the proportion of PS replacing FA rose. At a replacement ratio of 33% (i.e., 20% of the total mass of cementitious materials), the mortar maintained the same ultimate MgO dosage (8%) as the control specimen, yet exhibited a 12.7% increase in expansion and an 8.8% decrease in strength. The mechanism is that PS is less efficient than FA in reducing the pore solution alkalinity, thereby promoting the formation of more brucite. The growth pressure of brucite crystals expands the internal gaps in the matrix and coarsens the pore size, resulting in greater expansion and reduced compressive strength. The results of this study can provide theoretical and technical insights for the application of PS in M-RCC. Full article

Sheep are an economically important livestock species, and reproductive performance is a key trait affecting productivity. The Dorper × Hu hybrid sheep (DHS), widely bred in China, provides a valuable model for studying the genetic basis of prolificacy. This study aimed to investigate the genomic architecture and identify candidate genes associated with high litter size in DHS using whole-genome selective sweep analysis and genome-wide association study (GWAS). A total of 31 DHS individuals with complete reproductive records were sequenced and compared with publicly available genomic data from 20 Hu sheep (HUS) and 10 Dorper sheep (DPS). Population genetic structure and diversity were assessed using phylogenetic trees, principal component analysis (PCA), and ADMIXTURE analysis. To identify key genomic regions associated with litter size, we performed selective sweep analysis between the polytocous and monotocous subpopulations of DHS using multiple methods within a 50 kb sliding window framework, including $F_{ST}$, ${\theta }_{\pi }$ ratio, XP-CLR, and XP-EHH; we also conducted GWAS. DHS exhibited a distinct genetic structure with admixed ancestry and elevated genetic diversity. Genetic diversity analysis showed that DHS retained moderate levels of heterozygosity and polymorphism, comparable to or exceeding those of its parental breeds. Comparative analysis between polytocous and monotocous DHS identified reproduction-associated genes, including MUC1, PLCB4, SIN3A, and ELAVL2, enriched in pathways such as ovarian steroidogenesis, insulin secretion, and circadian entrainment. Furthermore, genome-wide association study (GWAS) identified 140 significant loci (p < 10⁻⁵) associated with reproductive traits. From these, 10 candidate SNPs were selected for validation through single-marker association analysis in 200 DHS individuals, among which two loci—g.88680390 C>A (SLC24A2/MLLT3) and g.18197516 T>C (ABCA1)—showed significant correlations with litter size. These findings enhance our understanding of the genetic basis of prolificacy in DHS and provide valuable molecular markers for genomic selection in sheep-breeding programs. Full article

Breast cancer (BC) is a heterogeneous disease, and triple-negative breast cancer (TNBC) is the most aggressive and immunogenic subtype. A significant proportion of TNBC cases are linked to hereditary cancer syndromes involving pathogenic germline variants, most commonly in BRCA1/2. However, few studies have compared hereditary and sporadic TNBC in admixed populations. In this study, molecular and immunological features were analyzed through the analysis of 62 Colombian TNBC samples (20 hereditary and 42 sporadic cases) by RNA sequencing to identify molecular and immune differences. We used an external validation cohort of 16 TCGA TNBC cases (8 BRCA-mutated and 8 non-mutated) to replicate our findings. Results: We found a set of 921 differentially expressed genes (DEGs) between hereditary and sporadic TNBC. Hereditary tumors were enriched for pathways related to extracellular matrix (ECM) remodeling, structural components, and DNA damage response and exhibited a more immunologically active tumor microenvironment compared to sporadic tumors. LASSO logistic regression identified 23 genes with discriminatory potential, showing that hereditary tumors are characterized by complex immune regulation, inflammatory processes, and activation of key oncogenic pathways. Conclusions: Hereditary TNBC is characterized by molecular and biological functions linked to ECM remodeling and its constituents and an active immune microenvironment. This integrated molecular–immune profile provides insight into the distinct biology of hereditary tumors in admixed populations. Full article

Angiopteris fokiensis is an endangered fern with ecological and medicinal value, yet genetic studies to support its conservation have been scarce. We performed a genome survey using high-throughput sequencing, developed genomic SSR markers from a draft assembly, and genotyped 96 individuals from 10 populations in Guangdong Province. The genome size was ~4.44 Gb (1.89% heterozygosity). From a 3.58 Gb contig assembly, 4,327,181 SSR loci were identified, with 15 highly polymorphic SSR markers being developed. Genotyping showed high within-population genetic diversity, low inter-population differentiation, and 98.55% of variation within populations. Bayesian structure, principal coordinates analysis, and neighbor-joining tree analyses consistently indicated admixed genetic clusters without clear geographical division. Additionally, the analysis revealed no significant correlation between genetic and geographic distances. Conservation should prioritize intra-population diversity via in situ/ex situ strategies. This study provides the first genomic SSR resources for A. fokiensis and underscores the importance of conserving within-population genetic diversity through integrated in situ and ex situ strategies. Full article

Capillary barrier covers (CBCs) have gained widespread application as engineered surface layers in landfill systems, agricultural water retention infrastructures, and slope protection designs due to their superior water storage capacity and lateral drainage characteristics. During the long-term service of CBCs, fine particles may enter into the coarse-grained layer, which affects the water storage capacity and even causes CBCs to fail. Therefore, this study investigated the influence of admixing different types of soils (into the coarse-grained layer) and their proportions on water storage capacity through laboratory soil column experiments. The results indicate the following: (1) A method is proposed to determine the failure of the capillary barrier by utilizing the variation pattern of volumetric water content (VWC) at the fine–coarse-grained layer interface. (2) An effective capillary barrier can only be formed if the saturated permeability coefficient of the coarse-grained layer is at least one order of magnitude greater than that of the fine-grained layer. (3) When the saturated hydraulic conductivity of the fine particles incorporated into the coarse-grained layer is less than 10⁻⁵ cm/s, the matric potential of the fine-grained layer consistently exhibits a CBC line type. When the saturated hydraulic conductivity of the fine particles is greater than 10⁻⁵ cm/s, the matric potential of the fine-grained layer shows a homogeneous line type at an incorporation ratio of 1:0.6. (4) When the particle size of the fine particles mixed into the coarse-grained layer (quartz sand, silt, and diatomite with admixture ratios of 1:0.1, 1:0.3, 1:0.6, and 1:1) is smaller than that of the particles in the fine-grained layer, the water storage capacity of CBCs is only affected by the proportion of fine particles added to the coarse-grained layer and is independent of the type of fine particle used. Full article

Background: Chronic obstructive pulmonary disease (COPD) is a complex condition influenced by both environmental and genetic factors. Among the genetic determinants, polymorphisms in the CHRNA3/5 and EPHX1 genes have been implicated in nicotine dependence and susceptibility to COPD in several populations. However, evidence remains limited in admixed populations such as Brazilians. Methods: This cross-sectional study investigated the association between CHRNA3 (rs1051730, rs8034191) and EPHX1 (rs2234922) polymorphisms with tobacco nicotine dependence and COPD in a Brazilian cohort. Genotyping was performed using TaqMan^® SNP assays, and pulmonary function was assessed via spirometry according to ATS/ERS standards. Associations between genetic variants, tobacco intake, and COPD status were evaluated using χ² and Fisher’s exact tests, with odds ratios (ORs) and 95% confidence intervals (CIs). Post hoc power analyses were conducted to estimate detectable effect sizes. Results: A total of 123 active or former smokers were analyzed. The CHRNA3 variants (rs1051730 and rs8034191) showed a trend toward higher prevalence among individuals with heavy tobacco intake (>40 pack-years), though no significant allelic or genotypic differences were found between COPD and control groups (p > 0.05). The EPHX1 rs2234922 A allele was significantly more frequent in COPD patients, suggesting increased disease risk (p < 0.05), while the GG genotype appeared protective. Post hoc power analyses indicated moderate power (≈0.56–0.63) for the observed associations. Conclusions: In this Brazilian population, the CHRNA3/5 polymorphisms may influence nicotine dependence, while EPHX1 rs2234922 appears to be associated with COPD susceptibility. These findings support a potential genetic contribution to disease risk and tobacco nicotine dependence, warranting further large-scale studies to confirm these associations and explore their therapeutic implications. Full article

Killer-cell immunoglobulin-like receptors (KIRs) play a crucial role in the cytotoxic activity of natural killer (NK) cells, encompassing both inhibitory and activating types. A higher ratio of cytotoxic to inhibitory receptors may harm successful pregnancies by disrupting the uterine environment. Ongoing debates surround the impact of KIR gene variations on recurrent pregnancy loss (RPL) and infertility across populations. This study aimed to explore KIR gene polymorphisms in RPL and infertility among the Venezuelan admixed population. The Venezuelan population exhibits a genetic mix of Caucasian, African, and local Amerindian ancestry, distinguishing it from other Latin American admixed populations. This study included 100 controls and 86 patients: 73 women with idiopathic RPL (53 primary and 20 secondary) and 13 infertile patients (4 primary and 9 secondary). The frequency of activating receptors KIR2DS2 and KIR2DS3 was significantly lower (p < 0.05) in the whole patient group compared to controls. However, when analyzing the haplotypes and genotypes, the significance between patients and controls was lost. When comparing RPL and infertile patients, KIR2DS2, KIR2DL3, 2DL5, and 3DL1 were significantly less frequent in infertile women. In infertile women, KIR2DS3 frequency was increased compared to controls and RPL. The results suggest that the frequency of inhibitory receptors may differentiate patients with RPL and infertility. Further studies should ascertain the expression and function of KIRs in uterine NK cells in patients with RPL and infertility. Full article

Background and Clinical Significance: Trichoblastomas and their variants are rare and underrecognized tumors, with their differential diagnosis being predominantly the much more common basal cell carcinoma. Variants of trichoblastoma, such as melanotrichoblastoma, and malignant counterparts, such as trichoblastic carcinoma and trichoblastic carcinosarcoma, are also rare and probably further underrecognized. Case Presentation: Herein, we present the morphological findings of a tumor located on the right arm of an 86-year-old female patient. The tumor presented with a mixed morphology comprising malignant epithelial nests and retiform structures with focal keratinization and comedo-type necrosis, admixed with dendritic melanocytes, and it had a strikingly bizarre and hypercellular stroma. Immunohistochemistry was positive for BerEp4 in the epithelial nest, HMB-45 was positive only in dendritic melanocytes admixed in some of the nests, and CK20 showed a focal dot-like reaction in intermixed Merkel cells. The stroma was negative for epithelial and melanocytic markers; however, it also exhibited hypercellularity and a bizarre appearance, in addition to a high Ki-67 proliferative index, which further defined it as malignant. Based on the morphology and immunohistochemical profile, the tumor was defined as melanotrichoblastic carcinosarcoma—a previously undescribed nosological unit with unique morphology. Conclusions: Melanotrichoblastomas, as well as trichoblastic carcinosarcomas, are exceedingly rare and underrecognized tumors due to their mimicry of other, more common malignancies. The currently presented case, to the best of the authors’ knowledge, is the first reported one of melanotrichoblastic carcinosarcoma. Full article

Background/Objectives: Dendritic cell vaccines are a promising cancer immunotherapy. AV-OVA-1 is a patient-specific vaccine consisting of autologous dendritic cells (DCs) loaded with autologous tumor antigens (ATA) from a lysate of irradiated self-renewing cells enriched for tumor-initiating cells (TICs). A multicenter, double-blind, randomized phase 2 trial was designed to determine manufacturing feasibility, safety, and efficacy. Methods: Patients had newly diagnosed stage 3 or 4 ovarian cancer. Short-term cell cultures were established from freshly resected tumor specimens. Patients were screened for randomization seven months after initial diagnosis, after completing neoadjuvant and/or adjuvant chemotherapy and surgery. Eligibility included a successful cell culture, cryopreservation of sufficient monocyte numbers for differentiation into DCs, and good performance status. Patients were stratified by whether they had persistent disease; then, they were randomized 2:1 to AV-OVA-1 or autologous monocytes (MC). Cryopreserved doses of AV-OVA-1 and MC were thawed and admixed with granulocyte–macrophage colony-stimulating factor just before subcutaneous injections at weeks 1, 2, 3, 8, 12, 16, 20, and 24. Results: Study accrual was terminated early during the SARS-CoV-2 pandemic. Manufacturing success rates for TICs, monocyte intermediate products, and AV-OVA-1 were 70/72 (97.2%) and 47/50 (94.0%), and 29/30 (96.7%), respectively. A total of 29 participants were treated with AV-OVA-1 and 15 with MC. Patients received an average of 7.4 injections. Adverse-event frequencies were similar in both arms, mild to moderate in severity, and self-limited. T-cell immune responses increased only after AV-OVA-1. There were no survival differences in this underpowered study. Conclusions: AV-OVA-1 was manufactured reliably and injections were well tolerated. Full article

Forensic DNA phenotyping (FDP) is an important innovation approach in forensics sciences, especially when traditional DNA profiling results are limited, mostly due to the absence of reference samples. FDP is based on the detection of genetic variants in specific genes whose function is related to pigmentation mechanisms and uses the genotypes found in the sample to determine the externally visible traits (EVT) such as the iris, hair, and skin tone or color of the individual; this prediction would help and expedite human identification processes and solve criminal cases. Several technologies have been developed to facilitate EVT prediction; however, most of them have been validated only in European populations. Implementing techniques for FDP in Latin American countries is essential given the problems of disappearance and human identification that have persisted for years. Nonetheless, scientists have a great challenge due to the admixed genetic structure of the population. This review explores the current application of FDP, emphasizing its significance, practical uses, and limitations within Latin American populations. Full article

Background: Pharmacogenomics offers critical insights into interindividual variability in drug response, especially in complex diseases such as diabetes mellitus. However, most pharmacogenomic evidence is derived from populations of European ancestry, limiting its applicability in admixed and underrepresented populations. In Colombia, the lack of population-specific data hampers the implementation of precision medicine strategies in diabetes care. The aim of this study was to identify pharmacogenomic variants significantly associated with diabetes and exhibiting differential allele frequencies between Colombian populations of African and European ancestry. Methods: We extracted 115 variant annotations related to diabetes from PharmGKB and filtered them for statistical significance and availability of allele frequency data. Fourteen single-nucleotide polymorphisms (SNPs) were compared across five Colombian populations using the CÓDIGO genomic diversity database. Principal component analysis (PCA) was performed to assess genetic clustering, and Pearson correlation coefficients were used to assess pharmacogenomic similarity. Results: PCA revealed distinct genetic clustering patterns that aligned with geographical distribution and ancestral origins. Pharmacogenomic divergence was observed between African and European ancestry groups in Colombia, with certain SNPs (e.g., rs8192675-C for metformin, rs7754840-C for DPP-4 inhibitors) showing 2- to 3-fold higher frequency in African ancestry populations. The bibliometric analysis revealed that 76.1% of studies originated from high-income countries and 68.4% of participants were of European ancestry. No studies originated from Africa or low-income countries. Conclusions: Marked ancestry-based differences in pharmacogenomic variant frequencies in Colombian populations may impact drug efficacy and risk of diabetes. The global literature shows a strong geographic and economic bias, underscoring the need for inclusive, population-specific pharmacogenomic research. These findings offer a foundation for implementing precision diabetes therapies in Latin America and advancing equitable genomic medicine. Full article

We investigate how simultaneous mass and radius measurements of massive neutron stars can help constrain the properties of dark matter possibly admixed in them. Within a fermionic dark matter model that interacts only through gravitation, along with a well-constrained nuclear matter equation of state, we show that the simultaneous mass and radius measurement of PSRJ0740+6620 reduces the uncertainty of dark matter central energy density by more than 50% compared to the results obtained from using the two observables independently, while other dark matter parameters remain unconstrained. Additionally, we find that the dark matter fraction $f_D$ should be smaller than 2% when constrained by the observed neutron star maximum mass alone, and it could be even smaller than 0.3% with the simultaneous measurement of mass and radius, supporting the conclusion that only a small amount of dark matter exists in dark matter admixed neutron stars (DANSs). Full article

Prophylactic measures and treatment strategies of implant-related bone and joint infections frequently involve the local delivery of high doses of antimicrobial drugs into the affected bone tissue or articular space in addition to the use of systemic antibiotics. Antibiotic-loaded biomaterials, such as Polymethyl Methacrylate (PMMA) cement, calcium sulfate, calcium phosphate, bioglass, and others, have proven to be clinically effective. However, they suffer from important limitations regarding elution and freedom of choice of admixable antimicrobial drugs. In order to overcome these shortcomings, the techniques of direct intraosseous or intra-articular injection/infusion of antibiotics via needles/cannulas or catheters are gaining popularity. Their attractiveness is based on the potential to achieve extremely high drug concentrations in situ, which can be maintained for as long as the catheters are left in place without increased risks of systemic toxicity. Although these methods are still in an experimental stage, reports on their clinical outcomes look promising. This articles summarizes the knowledge of when, how, and in which clinical settings the different modes and philosophies of local antibiotic delivery work best, with the aim to provide surgeons and infectious disease physicians guidance in clinical practice. This will help to optimize the use for the sake of the patients. Full article

Chickpea (Cicer arietinum L.) is a key legume crop of global economic and nutritional importance, yet its cultivation in Kazakhstan is constrained by a narrow genetic base and exposure to stress-prone environments. To characterize the diversity available for breeding and conservation, 27 accessions (22 kabuli and 5 desi) were evaluated for phenotypic and molecular diversity to assess its potential for use in breeding programs. Seven agronomic traits were assessed, including plant height, the first pod’s height, the number of main stems per plant, and seed yield components. The collection showed considerable variability across traits, with the plant height ranging from 37 to 75 cm and hundred-seed weight ranging from 21 to 42 g. Strong positive correlations between the number of fertile nodes, number of seeds per plant, and yield per plant (r > 0.83) highlighted their utility as indirect selection criteria. Genotyping with 28 SSR markers revealed 110 alleles (mean 3.9 ± 0.4 per locus) with moderate polymorphism (PIC = 0.493 ± 0.089). Loci CaM00495 and TAI71 were highly informative (PIC > 0.804), while two accessions showed low polymorphism, indicating genetic uniformity. Population structure analysis grouped accessions into four highly admixed clusters. Overall, Kazakh chickpea germplasm exhibits substantial phenotypic and genetic diversity under optimal conditions, providing valuable preliminary data for selecting parental lines for future breeding programs, which should include targeted stress screening to evaluate resilience. Full article

Coal gangue, an industrial byproduct of coal mining, was traditionally utilized in concrete production as a coarse aggregate. However, recent advancements have expanded its application by processing it into fine powder for use as a supplementary cementitious material (SCM), partially replacing cement. This approach not only enhances the sustainable reuse of coal gangue but also contributes to reducing cement consumption and associated carbon emissions. Nevertheless, the incorporation of coal gangue may adversely affect the mechanical strength and long-term durability of concrete. This review provides a systematic analysis of recent research on coal gangue-modified concrete. It begins by classifying the functional roles of coal gangue in concrete mixtures, followed by a critical evaluation of its impact on mechanical properties and durability—both as an aggregate an as a mineral admixture. When 30% of the aggregate is replaced with activated coal gangue, the average compressive strength of concrete increases by 15%. When coal gangue replaces less than 20% of the cement, the compressive strength of concrete can reach 95% of the reference strength. Second, the review evaluates the modification effects of various mineral admixtures, elucidating their mechanisms for enhancing mechanical properties and durability in coal gangue-based concrete. Finally, it examines the underlying interaction mechanisms between these admixtures and coal gangue, while identifying key future research directions for optimizing admixture formulations. By providing a comprehensive and critical analysis of current research, this paper serves as a valuable reference for developing high-performance coal gangue concrete with increased substitution rates and tailored admixture systems. Ultimately, this work advances the design of sustainable, low-cement concrete using industrial byproducts, enabling performance-driven applications and supporting next-generation green construction materials. Full article