Search Results (4,017)

Electric-field-sensitive dielectrics play a crucial role in electric field induction sensing and related capacitive conversion, with interfacial polarization and charge accumulation largely determining the signal output. This paper introduces graphene/transition metal dichalcogenide (TMD) (MoSe₂, MoS₂, and WS₂) heterojunctions as functional fillers to enhance the dielectric response and electric-field-induced voltage output of flexible polydimethylsiloxane (PDMS) composites. Density functional theory (DFT) calculations were used to evaluate the stability of the heterojunctions and interfacial electronic modulation, including binding behavior, charge redistribution, and Fermi level-referenced band structure/total density of states (TDOS) characteristics. The calculations show that the graphene/TMD interface is primarily controlled by van der Waals forces, exhibiting negative binding energy and significant interfacial charge rearrangement. Based on these theoretical results, graphene/TMD heterojunction powders were synthesized and incorporated into polydimethylsiloxane (PDMS). Structural characterization confirmed the presence of face-to-face interfacial contacts and consistent elemental co-localization within the heterojunction filler. Dielectric spectroscopy analysis revealed an overall improvement in the dielectric constant of the composite materials while maintaining a stable loss trend within the studied frequency range. More importantly, calibrated electric field induction tests (based on pure PDMS) showed a significant enhancement in the voltage response of all heterojunction composite materials, with the WS₂-G/PDMS system exhibiting the best performance, exhibiting an electric-field-induced voltage amplitude 7.607% higher than that of pure PDMS. This work establishes a microscopic-to-macroscopic correlation between interfacial electronic modulation and electric-field-sensitive dielectric properties, providing a feasible interface engineering strategy for high-performance flexible dielectric sensing materials. Full article

Isothiocyanates (ITCs) are well-known electrophilic agents with antioxidant and anticancer properties, largely attributed to their ability to activate the Nrf2/ARE pathway. Building on previous work with C1-ITC glycosyl derivatives, we designed and synthesized a new series of S-glycosyl isothiocyanates in which the ITC group was repositioned to the C6 carbon of the glucose scaffold. This structural rearrangement yielded stable and synthetically accessible derivatives with markedly enhanced biological profiles. Several compounds showed potent Nrf2 activation at non-cytotoxic concentrations, with CD values comparable to or exceeding those of natural ITCs. In parallel, the new C6-ITC derivatives displayed significant antiproliferative activity against leukemia and solid tumor cell lines. Among them, the phenylsulfone derivative 13 emerged as a particularly promising dual-action molecule, combining strong Nrf2 induction with low-micromolar cytotoxicity. Molecular docking was used as a hypothesis-generating approach and suggested a possible interaction with the STAT3 SH2 domain, although further studies are needed to validate this target. Overall, these results support glucose-based ITCs as a versatile platform for the development of multifunctional antioxidants with complementary anticancer properties. Full article

Fabry disease (FD) exhibits a spectrum of clinical manifestations ranging from mild to severe, posing a diagnostic challenge, particularly in non-classic subtypes. Genetic testing remains a gold standard for a precise diagnosis of FD and is pivotal in genetic counseling. Although conventional approaches such as Sanger sequencing and short-read next-generation sequencing (NGS) have been successfully used to diagnose FD, they often fail to detect deep intronic variants, complex rearrangements, or large deletions or duplications. In contrast, long-read sequencing (LRS) enables comprehensive coverage of intronic and repetitive regions, facilitating precise identification of atypical variants missed by conventional methods. This case series reports two unrelated male patients with clinical, enzymatic, and pathological features consistent with FD, who tested negative for pathogenic variants in the alpha-galactosidase A (GLA) via Sanger sequencing and NGS. LRS identified novel non-coding variants in both patients. Patient 1 carried a ~1.7 kb insertion within intron 4, corresponding to part of a long interspersed nuclear element-1, while RNA sequencing revealed two new GLA transcripts. Patient 2 harbored a ~2.5 kb insertion within a SINE-VNTR-Alu retroposon element located in the 5′-untranslated region, with quantitative real-time PCR showing significantly reduced expression of normal GLA transcripts. These findings reveal non-coding variants that contribute to the missing heritability in FD, highlight this genomic region as a priority for future investigation, and demonstrate the potential utility of LRS in diagnostic workflows for unresolved FD cases. Full article

Background: Sarcomas are rare, aggressive malignancies with limited therapeutic options in advanced stages. This is the first real-world study in the MENA region evaluating the clinical utility of Next-Generation Sequencing (NGS) in guiding sarcoma treatment and improving outcomes. Methods: We retrospectively reviewed sarcoma patients who underwent NGS at a major referral center (2021–2024), comparing clinical and molecular outcomes between those who received NGS-based treatment adjustments (NBTA) and those who did not. Results: Seventy-eight patients were included (60% male; median age 44 years). Soft tissue sarcomas accounted for 70.5% of cases (n = 55), while bone sarcomas represented 29.5% (n = 23). Prior to NGS, 64.1% of patients had received a median of one line of systemic therapy. NGS was performed late in the disease course in 73% of cases. At least one mutation was detected in 87% (median 3 mutations). Targetable alterations were identified in 33% at the time of testing, rising to 42% with updated genomic knowledge and therapeutic advances. Overall, 20.5% received NBTA. Among non-NBTA patients, 67% had no actionable targets, 17% had no detectable mutations, and 16% were ineligible due to cost, limited access, or clinical deterioration. Tumor Mutational Burden was low in 79%, intermediate in 19%, and high in 2%, and all tumors were microsatellite stable. Patients receiving NBTA had a longer median Progression-Free Survival (9 vs. 2 months; p = 0.023). Median Overall Survival was longer in the NBTA group (74 vs. 48 months), though not statistically significant (p = 0.207). Genomic alterations were subtype-specific: EWSR1 rearrangements (Ewing and Desmoplastic small round cell tumors), CDK4 and MDM2 amplifications (Liposarcoma and Osteosarcoma), TP53 and RB1 mutations (Leiomyosarcoma), CDKN2A/B deletions (Undifferentiated Pleomorphic Sarcoma and Chondrosarcoma), and SS18 rearrangements (Synovial Sarcoma). Conclusions: Genomics-guided therapy in sarcoma is feasible and impactful. Expanding timely access to molecular profiling is essential for advancing precision oncology in the MENA region. Full article

Myelodysplastic syndromes/neoplasms (MDS) are clonal hematopoietic disorders characterized by ineffective hematopoiesis, cytopenias, and a variable risk of progression to secondary acute myeloid leukemia (sAML). Despite major advances in the molecular and clinical characterization of MDS, mechanistic and translational research remains constrained by the limited availability of well-validated in vitro models. Many historically used cell lines are difficult to maintain, exhibit restricted proliferative capacity, or represent advanced disease stages rather than bona fide MDS, while others have been affected by misidentification or cross-contamination. This review provides a comprehensive and critical overview of currently available MDS and MDS-related cell lines, including MDS92, MDS-L and its sublines, M-TAT, TER-3, SKK-1, SKM-1, and MOLM-17/18. We summarize their clinical origin, cytogenetic and molecular features, growth factor dependence, differentiation capacity, and experimental applications, with particular emphasis on their relevance to disease stage, clonal evolution, and leukemic transformation. In addition, we discuss the controversy surrounding misidentified models such as PC-MDS and highlight the importance of rigorous cell line authentication. Full article

Dairy cow body temperature is a key physiological indicator that reflects metabolic level, immune status, and environmental stress responses, and it has been widely used for early disease recognition. Infrared thermography (IRT), as a non-contact imaging technique capable of remotely acquiring the surface radiation temperature distribution of animals, is regarded as a powerful alternative to traditional temperature measurement methods. Under practical cowshed conditions, IRT images of dairy cows are easily affected by complex background interference and generally suffer from low resolution, poor contrast, indistinct boundaries, weak structural perception, and insufficient texture information, which lead to significant degradation in target detection and temperature extraction performance. To address these issues, a lightweight detection model named YOLOv11n-CGSD is proposed for dairy cow IRT images, aiming to improve the accuracy and robustness of region of interest (ROI) detection and body temperature extraction under complex background conditions. At the architectural level, a C3Ghost lightweight module based on the Ghost concept is first constructed to reduce redundant feature extraction while lowering computational cost and enhancing the network capability for preserving fine-grained features during feature propagation. Subsequently, a space-to-depth convolution module is introduced to perform spatial rearrangement of feature maps and achieve channel compression via non-strided convolution, thereby improving the sensitivity of the model to local temperature variations and structural details. Finally, a dynamic sampling mechanism is embedded in the neck of the network, where the upsampling and scale alignment processes are adaptively driven by feature content, enhancing the model response to boundary temperature changes and weak-texture regions. Experimental results indicate that the YOLOv11n-CGSD model can effectively shift attention from irrelevant background regions to ROI contour boundaries and increase attention coverage within the ROI. Under complex IRT conditions, the model achieves P, R, and mAP50 values of 89.11%, 86.80%, and 91.94%, which represent improvements of 3.11%, 5.14%, and 4.08%, respectively, compared with the baseline model. Using T_max as the temperature extraction parameter, the maximum error (Max. Error) and mean error (MAE. Error) in the lower udder region are reduced by 33.3% and 25.7%, respectively, while in the around the anus region, the Max. Error and MAE. Error are reduced by 87.5% and 95.0%, respectively. These findings demonstrate that, under complex backgrounds and low-quality IRT imaging conditions, the proposed model achieves lightweight and high-performance detection for both lower udder (LU) and around the anus (AA) regions and provides a methodological reference and technical support for non-contact body temperature measurement of dairy cows in practical cowshed production environments. Full article

The family Capitellidae performs critical roles in bioturbation and sediment remediation within global marine benthic ecosystems. However, they are a taxonomically challenging group due to their simple morphology and a ‘morphological mosaic’, where traditional classificatory traits, such as thoracic chaetiger counts, appear convergently across genera. Previous multi-locus studies (using 18S, 28S, H3, and COI) first highlighted this conflict, revealing the polyphyly of major genera like Notomastus and even Leiochrides itself (based on unidentified specimens). More recently, mitogenomic studies uncovered massive gene order rearrangements and a conflicting topology but did not include Leiochrides. Critically, with no complete mitogenome reported for a formally identified Leiochrides species, its true phylogenetic position and the validity of its polyphyly remain unresolved. To address this critical gap, we sequenced and characterized the first complete mitochondrial genome from a formally identified species, Leiochrides yokjidoensis, recently described from Korean waters. The complete mitogenome was 17,933 bp in length and included the typical 13 protein-coding genes (PCGs), 2 ribosomal RNAs (rRNAs), and 22 transfer RNAs (tRNAs). Gene order (GO) analysis revealed the occurrence of gene rearrangements in Capitellidae and in its sister clade, Opheliidae. A phylogenomic analysis using the amino acid sequences of 13 PCGs from 30 species established the first robust systematic position for the genus Leiochrides (based on this formally identified species). Phylogenetic results recovered Leiochrides as a sister group to the clade comprising Mediomastus, Barantolla, Heteromastus, and Notomastus hemipodus (BS 99%). This distinct placement confirms that Leiochrides represents an independent evolutionary lineage, phylogenetically separate from the polyphyletic Notomastus complex, despite their morphological similarities. Furthermore, our analysis confirmed the polyphyly of Notomastus, with N. hemipodus clustering distinctly from other Notomastus species. Additionally, signatures of positive selection were detected in ND4, and ND5 genes, suggesting potential adaptive evolution to the subtidal environment. This placement provides a critical, high-confidence anchor point for the genus Leiochrides. It provides a reliable reference to investigate the unresolved polyphyly suggested by previous multi-locus studies and provides compelling evidence for the hypothesis that thoracic chaetiger counts are of limited value for inferring phylogenetic relationships. This study provides the foundational genomic cornerstone for Leiochrides, representing an essential first step toward resolving the systematics of this taxonomically challenging family. Full article

Biphenotypic sinonasal sarcoma (BSNS) is a very rare, locally aggressive sarcoma arising in the sinonasal region, initially recognized as low-grade sinonasal sarcoma with neural and myogenic differentiation. Here, we report a case of BSNS extending into the intracranial and intraorbital regions, finally diagnosed by a break-apart fluorescence in situ hybridization (FISH) assay for rearrangements of PAX3. A 50-year-old woman presented with left diplopia and exophthalmos. CT and MRI revealed a large ethmoidal mass with intracranial and intraorbital extension. Since preoperative biopsy suggested a benign tumor, endoscopic endonasal resection was performed while preserving the anterior skull base and intraorbital structures. Postoperative histopathological diagnosis indicated synovial sarcoma, and proton beam therapy with adjuvant chemotherapy was subsequently administered. After treatment, FISH demonstrated rearrangements of PAX3 and MAML3 genes, leading to a revised diagnosis of BSNS, which typically does not require chemotherapy due to its non-metastatic behavior. Eleven years after treatment, the patient remains free of recurrence. Understanding BSNS is essential to avoid excessive intervention, and confirmation of PAX3 rearrangement by FISH or equivalent molecular testing is crucial for accurate diagnosis. Full article

Antibiotics have become an integral part of human life and production. The presence of sulfachloropyridazine (SCP), one of the most ubiquitous antibiotics, in water has been a growing concern owing to its long persistence and the difficulty in removing it by conventional water treatment processes. This study introduced ozone (O₃)-activated sodium percarbonate (SPC) as an innovative technique of advanced oxidation processes (AOPs), and the degradation of SCP from water by this method was thoroughly investigated. The impact of a variety of parameters, such as the dosage of SPC, the dosage of O₃, the pH value, and water matrix constituents, on the removal of SCP was evaluated with regard to the pseudo-first-order kinetic model. It was found that the removal effectiveness of SCP improved initially and then decreased with the rising dosage of SPC, with an optimal SPC dose achieved at 20 mg/L. Moreover, •OH, ${\mathrm{O}}_2^{•-}$ and ¹O₂ played important roles during SCP degradation based on radical quenching tests and electron paramagnetic resonance (EPR) tests. The SCP degradation pathways were predicted using density functional theory (DFT), which primarily involves the cleavage of S-C or S-N bonds and Smiles-type rearrangements, accompanied by hydroxylation. Furthermore, the toxicity of degradation intermediates was evaluated by the ECOSAR 1.1 software in terms of acute toxicity and chronic toxicity, and most of them exhibited lower levels of toxicity. The results can expand the research scope of SPC and reveal significant insights for SPC’s application in controlling antibiotic contamination. Full article

Tartary buckwheat has increasingly become the focus of people’s attention due to its powerful health benefits. Golden buckwheat is a traditional Chinese medicine. People have begun to utilize it through wide hybridization to further enhance the health benefits of Tartary buckwheat. To study the genetic stability of the interspecific hybrids of Tartary buckwheat with golden buckwheat, and to provide scientific basis for the interspecific cross breeding of buckwheat, the mitotic chromosomes of two buckwheat double lines and their interspecific hybrids with golden buckwheat were subjected to observe the karyotypes. The results showed as follows: (1) The two autotetraploid Tartary buckwheat lines (Long Black-4T and Daku-1) have chromosome number 2n = 32. The karyotype formula of 2n = 4x = 32 consisted of 16 pairs of metacentric chromosomes for Long Black-4T (TTTT) while Daku-1 (TTTT) has 1sm + 7m Gui Jinqiao 4 with 2n = 32 has a karyotype formula of 2n = 4x = 32 that consisted 1sm + 6m + 1M (genome M) and 2sm + 5m + 1M (genome M’). The normal fertile tetraploid hybrid F1 plants between Long Black-4T and Gui Jinqiao 4 has 2n = 4x = [1sm + 7m (M), 1sm + 7m (M’), 14m + 2M (TT)]. The normal fertile variety Gui Jinku 1 from the above hybrid progenies shows 2n = 4x = [3sm + 5m (M), 2sm + 6m (M’), 16m (TT)], indicating an increment of sm chromosomes by rearrangements of chromosome structure in the M and M’ genomes. The above parents and their hybrids with the MM’TT genome show fertility. A plant from F2 of the above cross, showing highly infertility, has 2n = 3x= [1sm + 7m (M), 1sm + 7m (M’), 8m (T)]; and back cross progeny plant from Daku 1/Gui Jinqiao 4 F2//Gui Jinqiao 2 golden buckwheat has 2n = 4x = [16m (MM), 5sm + 3m (M’), 1sm + 7m (T)], showed high infertility, which is caused by genome aneuploidy and non-even ploidy. The above shows that there are obvious variations of genome karyotypes from the same parent, indicated by certain chromosome structural rearrangements in genomes T, M, and M’. Full article

Let E be a rearrangement-invariant Banach function space. Let $\mathcal{P}\left(\Omega \right)$ denote the collection of all measurable variable exponents $p(·):\Omega \to (0,\infty )$ such that $0<\mathrm{ess}{\inf }_{w\in \Omega }p\left(w\right)\le \mathrm{ess}{\sup }_{w\in \Omega }p\left(w\right)<\infty$. In this paper, with the help of a new atomic decomposition of the variable Hardy–Lorentz–Karamata space $H_{p(·),q,b}^M$ via ${(s,p(·),E)}^M$-atoms, we characterize the dual space of $H_{p(·),q,b}^M$ for the two cases $0<q\le 1$ and $1<q\le \infty$, respectively. Using this, some new John–Nirenberg theorems associated with variable exponents are also established. Full article

Background: idiopathic pulmonary fibrosis (IPF) causes progressive and irreversible changes in the lung parenchyma, leading to respiratory failure. Its pathogenesis involves several damage/repair mechanisms leading to fibrosis, whilst alterations of genes implicated in these processes contribute to the development of the disease. At present, next-generation sequencing (NGS) analyses investigate single-nucleotide or small indel variants, and no evaluation of genomic rearrangements has been so far reported. Methods: In order to identify predisposing variants, we analyzed—both by NGS and by comparative genomic hybridization/single-nucleotide polymorphism (CGH-SNP array) array—37 patients with a diagnosis of familial pulmonary fibrosis. Results: a total of 17 patients (46%) harbored copy number variations (CNVs), 10 (27%) did not harbor any CNVs, 5 (13.5%) showed a mosaic deletion of the Y chromosome, and 5 (13.5%) showed a run of homozygosity (ROH). NGS identified causative variants (including a novel one) in five patients (5/37, 13.5%) and confirmed the high prevalence of MUC5B promoter polymorphism rs35705950, including the detection of a previously unreported form in IPF SNP (indicated as “novel” in the main text), rs141420125 (23/37; 62%). Conclusions: CGH-SNP array identified CNVs containing genes involved in mechanisms (i.e., oxidative stress, mitophagy, NF-Kb pathway) that have been shown to play a role in the pathogenesis of IPF. Therefore, the application of CGH-SNP array or other quantitative tests should be considered in the diagnostic setup of these patients Full article