Search Results (139)

Background: Diagnostic anchoring to a presumed infectious etiology may delay recognition of underlying genetic disorders in children with neurodevelopmental impairment. Case presentation: A case of a child with sensorineural hearing loss, visual impairment, and developmental delay is reported; cytomegalovirus (CMV) infection was identified at 6 months of age based on positive serology and detection of viral DNA in serum and urine. Given the timing of testing, congenital CMV infection (cCMV) could not be definitively confirmed. Antiviral therapy with valganciclovir was administered. Despite antiviral treatment, severe neurodevelopmental impairment and hearing loss persisted, associated with facial dysmorphism, bilateral cryptorchidism, pectus excavatum, and optic nerve hypoplasia, findings not fully attributable to CMV infection. Brain magnetic resonance imaging (MRI) showed nonspecific findings. Chromosomal microarray analysis (CMA) performed at 4.5 years of age identified a heterozygous 908 kb de novo microdeletion at 19p13.2p13.13 containing NFIX (MIM *164005) and other morbid genes. The de novo variant was confirmed by parental testing, and the unifying genetic diagnosis of NFIX-related Malan syndrome (MIM#614753) was established. Conclusions: This case emphasizes the importance of reconsidering the initial diagnosis when the clinical phenotype is not fully consistent with an infectious etiology. Early genomic testing, including CMA, may facilitate timely recognition of underlying genetic syndromes in children with complex neurodevelopmental presentations. Full article

The excessive use of inorganic nitrogen (N) fertilizers in rice production poses significant environmental and economic challenges, particularly in intensive farming systems such as those in the Mekong Delta, Vietnam. This study aimed to evaluate the potential of Herbaspirillum seropedicae (H. seropedicae), an endophytic N-fixing bacterium, to enhance soil fertility, improve rice growth, and maintain yield while reducing N fertilizer inputs in Dai Thom 8 rice under field conditions. A randomized complete block design with five treatments, including different nitrogen reduction levels combined with bacterial inoculation, was employed. The results showed that treatments integrating H. seropedicae significantly improved soil properties, including soil organic matter, total nitrogen, and available nutrients, compared to the control. Growth parameters such as plant height, tiller density, and chlorophyll content were also enhanced, particularly in treatments with bacterial inoculation. Yield components, including grain number and filled grains per panicle, were significantly increased, leading to higher grain yield. The highest yield was observed in T5 (5.72 t ha⁻¹), while T3 and T4 achieved comparable yields with reduced N inputs. Additionally, grain quality analysis revealed increased protein content without negatively affecting starch composition. These findings highlight the potential of H. seropedicae as a biofertilizer to improve N use efficiency and reduce dependency on chemical fertilizers. The study provides strong evidence for integrating microbial inoculants into sustainable rice production systems. Among the treatments, T3 (50% N reduction combined with bacterial inoculation) is recommended as the optimal strategy due to its balance between high yield and reduced input costs, contributing to environmentally friendly and economically viable agriculture. Full article

Nitrogen is essential for plant growth. Reliance on synthetic nitrogen fertilisers, however, is costly and contributes to soil degradation. Utilising nitrogen-fixing bacteria as biofertilisers may offer a sustainable alternative, reducing fertiliser costs and environmental impact. In this study, we attempted to isolate nitrogen-fixing bacteria from 14 seed batches of warm-season pasture grasses and successfully isolated bacteria from three of these batches. Whole genome sequencing confirmed the presence of the nif operon within all three isolates. Two seed batches of Cenchrus clandestinus (Hochst. ex Chiov.) Morrone from which nif-containing bacteria were isolated, along with two ‘nif’-negative C. clandestinus seed batches, were used in nitrogen-limiting growth assays. This was done to evaluate the effect of the presence of seed-associated nitrogen-fixing bacteria within a seed batch on nitrogen-limited plant growth and the associated plant microbiome composition, using 16S amplicon sequencing of root and shoot samples. Initial plant growth assays revealed significantly reduced root length between plants grown from seed batches harbouring nitrogen-fixing bacteria and those without, under limiting nitrogen availability, but no resulting shoot biomass reduction was observed. The plant microbiomes of these nif-positive seed batches were also statistically similar to each other, compared to the nif-negative seed batch plants. Plant microbiomes of all four C. clandestinus seed batches were significantly different from their original seed microbiomes, showing shifts in community composition. This study demonstrates the presence of potential nitrogen-fixing bacteria associated with warm-season pasture grass seeds at low abundance and reveals differences in plant-associated bacterial community composition between seed batches harbouring and lacking these bacteria. Full article

Soil salinization is one of the main stress factors limiting plant growth and ecosystem restoration in arid regions. Arbuscular mycorrhizal fungi (AMF) can form common mycorrhizal networks (CMNs) that potentially facilitate resource and signal exchange between plants. In this study, we investigated whether such processes associated with AMF connectivity might contribute to salt tolerance in different plant combinations, using Glycyrrhiza inflata and Lycium ruthenicum. However, under salt stress, it remains unclear how different plant combinations (conspecific vs. heterospecific) may differentially benefit from CMN-mediated processes under salt stress, and whether such processes involve coordinated stress signaling and nitrogen transfer. This study used Glycyrrhiza inflata (a leguminous N-fixing plant with a “N-input” strategy) and Lycium ruthenicum (a deep-rooted desert shrub with a “resource-use efficiency” strategy) as materials to construct conspecific and heterospecific plant combinations: G-G (G. inflata-G. inflata), L-L (L. ruthenicum-L. ruthenicum), G-L (G. inflata-L. ruthenicum), and L-G (L. ruthenicum-G. inflata). Four salt stress levels were set (NaCl concentrations of 0, 150, 250, and 350 mmol·L⁻¹), along with AMF inoculation treatments. The study evaluated responses in AMF colonization, nitrogen transfer, biomass, root structure, photosynthetic characteristics, antioxidant capacity, osmotic regulation, and hormone levels. The results show that: (1) AMF colonization rates in all inoculated groups significantly decreased with increasing salt concentration, with the G-L combination showing a smaller decline; (2) The G-G combination maintained strong root activity and photosystem stability under high salt stress, exhibiting higher salt tolerance; (3) In conspecific combinations, the JA-Pro signaling pathway was dominant, whereas in heterospecific combinations, the ABA-SOD pathway prevailed, indicating differences in hormone regulation mechanisms among different combinations; (4) ¹⁵N transfer efficiency was significantly higher in conspecific combinations than in heterospecific combinations (p < 0.05), and increasing salt concentrations limited the resource-sharing ability of heterospecific combinations. In summary, our results revealed distinct physiological and hormonal responses in conspecific versus heterospecific plant combinations under salt stress when grown in an AMF-colonized system that permits hyphal connections. These patterns were consistent with a potential role of CMNs in signal coordination and resource sharing, although further experiments with disrupted hyphal connections would be required to confirm this mechanism. Full article

Ovarian cancer remains the most lethal gynecological malignancy, largely due to its early dissemination and extensive peritoneal metastasis. The tumor microenvironment (TME), particularly tumor-associated macrophages, promotes this invasive phenotype; however, the precise molecular effectors linking immune-to-tumor signaling remain unclear. We identified FRY, a microtubule-binding protein previously uncharacterized in ovarian pathology, as a critical mediator of macrophage-driven invasion. We observed that conditioned medium from ovarian cancer-stimulated macrophages (OCM) robustly induced FRY expression in ovarian cancer cells. Clinically, elevated FRY levels correlate with advanced tumor stage and poor patient survival. Functionally, FRY knockdown significantly abrogated OCM-induced invasion without affecting cell viability, highlighting its specific role in motility. Mechanistically, FRY facilitates epithelial–mesenchymal transition (EMT) and acts as an essential downstream effector of the PI3K/AKT signaling cascade; notably, FRY was required for AKT1-driven invasive behaviors. Furthermore, we identified the transcription factor NFIX as a key regulator of FRY expression. Macrophage-derived signals upregulate NFIX, which directly regulates FRY transcription. Pharmacological inhibition of the CXCR1/2 axis with reparixin effectively blocked OCM-mediated induction of both NFIX and FRY, suggesting that chemokine signaling initiates this pro-invasive loop. Collectively, these findings suggest that FRY is a macrophage-driven mediator of invasion and underscore its potential relevance in ovarian cancer. Full article

Fetal hemoglobin (HbF) plays a central role in mitigating the pathophysiological effects of sickle cell disease (SCD). Understanding the genetic determinants influencing HbF expression is essential for identifying the factors contributing to its modulation. This review provides an updated synthesis of evidence on HbF modulation, focusing on β^s haplotypes and their molecular characterization through Sanger sequencing, polymorphisms consistently associated with HbF levels in genome-wide association studies (GWAS), and recent advances in gene editing targeting HbF expression. An integrative review (2016–2025) was conducted using PubMed/MEDLINE, Scopus, and Web of Science, encompassing original research, experimental studies, systematic reviews, and genomic analyses. Key regulatory loci such as BCL11A, HBS1L-MYB (HMIP), and the HBB cluster explain a significant proportion of HbF variability across populations. Furthermore, additional variants in KLF1, NFIX, BACH2, and ZBTB7A have emerged as potential modulators in specific cohorts. Regarding advances in γ-globin editing, “prime editing”, although still in the experimental phase, has recently emerged as an innovative approach capable of introducing multiple HPFH-like mutations within γ-globin promoters, expanding future therapeutic possibilities in SCD. This review also provides a comparative overview of prime editing and other gene-editing strategies for HbF modulation, such as CRISPR-Cas9 and Base editing. Collectively, this work outlines the current landscape of HbF modulation and provides an informative basis for future research aimed at advancing precision-oriented therapeutic strategies in sickle cell disease. Full article

Dalbergia odorifera, a cornerstone tree species for ecological restoration in karst regions, exhibits remarkable adaptability to karst rocky desertification (KRD) environments characterized by high heterogeneity and nutrient poverty. Yet, the mechanisms underlying its root system’s response to spatially variable KRD stress remain poorly elucidated. In this study, a split-root system was employed to simulate heterogeneous substrate conditions, including loam, uniform gravel (global stress), and partitioned loam/gravel (partial stress). We found that under partial stress, the root system underwent functional specialization, and roots in loam enhanced resource acquisition, whereas roots in gravel significantly elevated stress tolerance. This was supported by increased root:shoot ratio, improved nutrient conservation, and localized upregulation of key enzymes and metabolites. Multi-omics profiling further uncovered profound reprogramming of critical pathways such as phenylpropanoid biosynthesis, fatty acid metabolism, and glutathione metabolism, highlighting robust antioxidant defense and membrane stabilization mechanisms. Our findings demonstrate that D. odorifera optimizes resource use in heterogeneous karst habitats through spatial division of labor at the root system level, orchestrated by integrated morphological, physiological, and molecular adaptations. This study provides a novel perspective on plant adaptation to environmental heterogeneity and offers practical insights for cultivating stress-resilient trees and restoring degraded karst ecosystems. Full article

The intensity of wildfires is projected to increase with the rising frequency of droughts due to climate change. Management practices following forest fires must include restoring the appropriate species composition. This study was performed within the wider context of the regeneration of soil properties, including the stock and soil organic matter (SOM) content, at the largest forest fire site in Poland (more than 9000 ha) in the Rudziniec Forest District, Upper Silesia. Research plots were established on sandy soils (Podzols and Arenosols) in pure stands of Scots pine (Pinus sylvestris L.), common birch (Betula pendula Roth), and black alder (Alnus glutinosa (L.) Gaertn.). The organic and mineral soil horizons were sampled from each research plot and control plots unaffected by the fire. The trees’ foliage was also sampled to determine the nutrient supply. Basic soil properties were determined, including the texture, pH, bulk density, organic carbon (C), macronutrient contents, soil microbial biomass, and labile C and nitrogen (N) fractions. We found that, 30 years after the fire, the post-fire soils had similar SOC stocks (34.80 Mg ha⁻¹) to the control plots (31.72 Mg ha⁻¹); however, they differed in their stocks of labile C and N fractions. The post-fire soils had a less stable C pool due to a higher stock of the fraction associated with particulate organic matter. In contrast, the N pool was more stable in the post-fire soils than in the control soils due to a lower contribution of the most labile fractions. The soils under Scots pine had the least stable SOM, which may have influenced the intensification of the podzolization process, whereas the highest biomass of soil microorganisms was observed under common birch. The soils under black alder had the highest acidity and lowest phosphorus (P) content. The C:N:P ratios in the post-fire soils and tree foliage indicated that P may have been the limiting factor in alder growth, and N for pine and birch. Our findings indicate that tree species composition is an important factor in the recovery of post-fire soil properties. However, the introduction of pure black alder stands to post-fire soils with low moisture and P availability showed little effectiveness in restoring the SOM content and N pool. Full article

Selecting symbiotic rhizobia for use as inoculants in agriculture is a major challenge, though it is necessary for exploiting biological nitrogen fixation as an eco-friendly source of N in contrast to chemical N fertilizers which can pollute the environment. In addition to high symbiotic efficiency, bacterial strain ability to infect and effectively nodulate a wide range of host plants is also desired. Cross-infectivity studies are therefore important for identifying rhizobial strains that are highly effective with a broad host range. The legume/rhizobia symbiosis has the potential to contribute about 80% or more N to agricultural systems, thus providing a sustainable source of N in cropping systems. This study assessed the cross-nodulation, colony morphology, relative symbiotic effectiveness and N₂ fixation of native rhizobial isolates from Africa that nodulate diverse legume species. The results showed that the rhizobial isolates differed significantly in symbiotic performance and relative symbiotic effectiveness. As a result, they differed markedly in nodulation and shoot DM induced in their host plants. Full article

While root exudates play a crucial role in maintaining ecosystem balance and promoting plant growth, existing research primarily focuses on single ecosystems (e.g., field crops), with systematic investigations of their ecological functions in compound cropping systems, particularly nitrogen (N) cycling mechanisms in orchard multi-cropping systems, remaining limited. This review focuses on the N impact mechanisms mediated by plant root exudates in orchard ecosystems, emphasizing how root exudates optimize soil N activation, absorption, and utilization efficiency by modulating rhizosphere processes (e.g., nitrogen mineralization, root architecture remodeling). Studies indicate that the changes in orchard ecosystem function mediated by organic acids and flavonoids root exudates can significantly reduce nitrogen loss risks and increase the soil nitrogen turnover rate by lowering pH-activated nutrients, balancing the C:N ratio, and immobilizing microbial communities. This process also involves the coordinated regulation of nitrification, denitrification, and microbial fixation. Future research should prioritize investigating the interaction networks and regulatory mechanisms between root exudates of associated orchard crops and N-fixing microorganisms. This research direction will provide a scientific basis for improving the N use efficiency in orchard crops, optimizing fertilizer reduction techniques, and reducing chemical fertilizer usage, providing significant implications for achieving sustainable agricultural development. The theoretical support offers important scientific and practical value for advancing green and sustainable agriculture. Full article

Neural stem/progenitor cells (NSPCs) in the subventricular zone (SVZ) of the central nervous system (CNS) are critical for tissue repair following injury or disease. These cells retain the capacity to proliferate, migrate, and differentiate into neurons, astrocytes, and oligodendrocytes, making them a promising therapeutic target for neurodegenerative disorders and traumatic injuries. However, the molecular mechanisms regulating their proliferation remain incompletely understood. This study investigates the role of cAMP responsive element-binding protein 5 (CREB5) in the proliferation of rat SVZ-derived NSPCs and elucidates its regulatory mechanism. Using RNA interference, we demonstrated that CREB5 knockdown significantly reduced cell viability, neurosphere formation capacity, and the number of proliferating cells (BrdU- and Ki-67-positive cells) both in vitro and in vivo. In contrast, CREB5 overexpression played opposing roles in cell proliferation. Additionally, alteration of CREB5 expression did not affect apoptosis, as assessed by TUNEL staining, indicating a specific role in proliferation rather than in cell death. Mechanistically, we identified Nuclear Factor One X (NFIX) as a transcriptional target of CREB5. CREB5 binds to the AP-1 site in the NFIX promoter, enhancing its expression. CREB5 knockdown inhibited NFIX expression, while CREB5 overexpression exerted the opposite function. ChIP and luciferase reporter assays further confirmed that CREB5 directly regulates NFIX promoter activity. More importantly, alteration of NFIX expression could reverse the effect of CREB5 on NSPC proliferation. These findings highlight CREB5 as a key regulator of NSPC proliferation through its interaction with NFIX, providing a potential therapeutic target for stem cell-based treatments of CNS disorders. Full article

Excessive nitrogen (N) fertilizer usage in agriculture has prompted the exploration of sustainable strategies to enhance nitrogen use efficiency (NUE) while maintaining crop yield and quality. Processed tomatoes (Solanum lycopersicum L.) were grown for two years (2023 and 2024) following a two-way factorial randomized complete block (RCBD) design, considering three biostimulants and three N regimes as two factors, to assess their morphophysiological, biochemical, anatomical and yield performances. Nitrogen application significantly influenced biomass accumulation, the leaf area index (LAI), nitrogen uptake and yield with notable comparable values between reduced and optimal nitrogen dose, indicating improved nitrogen use efficiency. Biostimulants showed limited effects alone but enhanced plant performance under reduced nitrogen conditions, particularly improving chlorophyll content, crop growth, N uptake, yield and anatomical adaptations. Moreover, compared to 2024, biostimulant application enhanced tomato growth more evidently in 2023 due to environmental variations, likely due to the occurrence of stress conditions. Importantly, biostimulants, together with N regimes, i.e., optimal and reduced doses, showed improved anatomical traits, especially regarding leaf thickness and thickness between the two epidermises, indicating adaptive responses that may support sustained productivity under N-limited conditions. Among the biostimulants used, the processed tomatoes responded better to protein hydrolysate and endophytic N-fixing bacteria than to seaweed extract. These findings suggest that although biostimulants alone were not affected, integrating them with reduced N fertilization provides a viable strategy for optimizing tomato production, conserving resources and minimizing the environmental impact without compromising yield or quality. Full article

The increasing rate of atmospheric nitrogen (N) deposition caused by human activities is a global concern. A rise in N deposition can alter the soil microbial community, as demonstrated by most long-term N addition experiments. Nevertheless, it remains unknown how short-term N addition influences the early succession of the soil microbial community in forests. In this study, the responses of the soil microbial community to multi-level and short-term (one-year) N addition in the soil of Larix gmelinii var. principis-rupprechtii (Mayr) Pilg. plantations in the Yanshan Mountains were explored. We used high-throughput sequencing technology to analyze the 16S rRNA of bacteria, the ITS gene of fungi, and the nifH functional gene of N-fixing bacteria. The results revealed a decrease in N-fixing functional gene abundance (such as nifH) and a slight rise in fungal and bacterial copy number due to N addition. N addition influenced the N-fixing bacterial community but had no influence on the fungal and bacterial communities in general. It drastically decreased the diversity of N-fixing microbial communities while having little impact on the diversity of fungi and bacteria. The NO₃⁻-N concentration exhibited a negative connection with the Shannon–Wiener index of the N-fixing microbial community when it exceeded a specific limit. Actinomycetes and N-fixing bacteria were significantly negatively correlated. The changes in soil NO₃⁻-N concentration and abundance of actinomycetes were the main reasons for the decrease in N-fixing microbial community diversity. The results of this study set the groundwork for exploring the initial succession mechanisms of soil microorganisms after N addition. This study offers a scientific theoretical basis for precise management of plantations under N deposition. Full article

Long-term monoculture of poplar plantations for industrial material production has been widely reported to cause severe soil degradation, while the presence of understory vegetation might enhance soil nitrogen (N) transformation and supply. This study employed a field experiment using a randomized block design with three blocks and four understory treatments, including understory removal, N-fixing species planting, single-species retention, and diverse vegetation retention, in poplar plantations on a mid-latitude alluvial plain in China over 6 years to assess the effects of different species and richness of understory on soil N transformation and related microbial traits via ¹⁵N assays and shotgun metagenomics. The results showed that understory removal significantly reduced soil N transformation rates, bacterial abundance, and gene abundance associated with N transformation. Compared to a single-species understory, retaining a diverse understory with high species richness significantly increased soil gross N transformation rate of mineralization by 149%, nitrification by 221%, and immobilization by 85%; comprehensively enriched dominant bacterial phyla; and elevated gene abundances of gdh_K15371, ureB, hao, and amoA_B associated with N transformation. No significant difference in N transformation rates existed between N-fixing species planting treatment and single-species retention treatment, while N-fixing species planting treatment specifically promoted the soil bacterial phyla Nitrospirae and Chloroflexi, and increased the gene abundances of gdh_K15371 and hao. These findings demonstrate that both introducing N-fixing species and an increase in species richness of the understory effectively promoted soil N transformation but that different underlying mechanisms existed. Planting N-fixing species selectively increased the soil bacterial phyla of Nitrospirae and Chloroflexi, whereas the increase in species richness broadly enriched soil bacterial diversity, thereby inducing the enrichment of the functional genes and enhancing soil N transformation. In conclusion, both planting N-fixing species and retaining diverse understory vegetation were effective strategies for maintaining sustainable management of poplar plantations by increasing soil N availability. Full article

Faba bean is a high-protein legume that can be successfully grown in most climates around the world. It is one of the most popular pulses cultivated in Poland. Its seeds are a source of plant protein, used most often in feed production. Field experiments and laboratory seed analyses were carried out in 2022 and 2023 to assess the effect of the application of nitrogen-fixing bacteria on the yield and seed quality of a low-tannin faba bean cultivar. The factor was tested at four levels: control, seed inoculation with Rhizobium leguminosarum bv. viceae, foliar spraying with Methylobacterium symbioticum, and seed inoculation and spraying (double application). The application of N-fixing bacteria had a positive effect on faba bean seed yield. In 2022, plants responded most effectively to a double application, increasing seed yield by 25.4%, while, in 2023, the highest seed yield was obtained after inoculation (12.3% increase). Although the single application of bacteria caused a decrease in seed protein content, the double application (inoculation and spraying) significantly enhanced seed protein content. The protein productivity per hectare was compensated by the higher seed yield and increased by 41.7% in 2022 and 14.9% in 2023 compared to plots where N-fixing bacteria were not applied. This work shows that it is possible to use different strains of N-fixing bacteria in faba bean cultivation and this can significantly improve yields while reducing the need for synthetic nitrogen fertilizers, which supports sustainable production. Full article