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Search Results (279)

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14 pages, 3978 KB  
Article
Research on the Solidification Structure, Properties and Composition Segregation of GCr15 Bearing Steel Under Double-Electrode Regulation
by Qinghe Xiao, Shengli Li, Siyao Liu, Jiyu Zhao, Xingang Ai, Ye Zhou, Xincheng Miao and Min Wang
Metals 2025, 15(10), 1086; https://doi.org/10.3390/met15101086 - 29 Sep 2025
Viewed by 222
Abstract
To explore the influence of double-electrode regulation technology on the solidification microstructure and properties of GCr15 bearing steel, the double-electrode insertion process was employed in this study, combined with metallographic analysis, mechanical property testing, and electron probe composition characterization. We analyzed the mechanisms [...] Read more.
To explore the influence of double-electrode regulation technology on the solidification microstructure and properties of GCr15 bearing steel, the double-electrode insertion process was employed in this study, combined with metallographic analysis, mechanical property testing, and electron probe composition characterization. We analyzed the mechanisms of solidification microstructure evolution and mechanical property improvement, as well as the composition segregation control effect, of GCr15 steel under double-electrode regulation. The results show that the double-electrode technology significantly refines the microstructure and improves the internal quality of the ingot by optimizing the temperature field and electromagnetic field distribution in the molten pool and enhancing the internal flow of the melt. The tensile strengths in the upper and middle parts were increased by 84.6% and 29.6%, respectively, which can be attributed to the uniform distribution of carbides at the grain boundaries and the reduction of segregation. Composition analysis indicates that the macroscopic segregation index of C element was decreased under the dual-electrode process. This research provides a theoretical basis and process optimization direction for the high-quality preparation of high-carbon chromium bearing steel. Full article
(This article belongs to the Special Issue Green Super-Clean Steels)
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15 pages, 2791 KB  
Article
Ex Vivo Optical Coherence Tomography Analysis of Resected Human Bladder with a Forward-Looking Microelectromechanical Systems Mirror-Based Catheter
by Marinka J. Remmelink, Paul R. Bloemen, Patrick van der Voorn, Xavier Attendu, Richard M. van den Elzen, Jakko A. Nieuwenhuijzen, Jorg R. Oddens, Ton G. van Leeuwen and Daniel M. de Bruin
Sensors 2025, 25(18), 5794; https://doi.org/10.3390/s25185794 - 17 Sep 2025
Viewed by 489
Abstract
A technique that enables real-time diagnosis of bladder cancer is needed. Optical coherence tomography (OCT) is a promising technique, but a forward-looking OCT catheter is necessary for OCT to enable bladder cancer diagnosis. This study aims to describe the design of a novel [...] Read more.
A technique that enables real-time diagnosis of bladder cancer is needed. Optical coherence tomography (OCT) is a promising technique, but a forward-looking OCT catheter is necessary for OCT to enable bladder cancer diagnosis. This study aims to describe the design of a novel forward-looking microelectromechanical systems (MEMS)-based OCT catheter, assess the performance characteristics, and evaluate its ability to identify histopathological characteristics of bladder specimens. A description of the OCT catheter and systems used is provided. Performance characteristics were measured with a beam profiler and microscopy slide (mirror for dispersion and thickness for lateral calibration). Ex vivo measurements were performed on resected bladder tissue from patients undergoing a radical cystectomy. A forward-looking OCT probe with an outer diameter of 2.52 mm and a rigid length of 17 mm was designed and evaluated. The focus position was measured as 10.9 mm from the MEMS mirror, with a Rayleigh length of 2.55 mm. Several histopathological features could be correlated to OCT features of the ex vivo measurements. In conclusion, a forward-looking OCT probe that can be inserted in the working channel of a rigid cystoscope was designed and evaluated. Performance characteristics were overall in line with simulated expectations. Full article
(This article belongs to the Section Optical Sensors)
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19 pages, 3845 KB  
Article
Image-Based Quantification of Soil Disturbance in Vane Shear Tests on Reconstituted Kaolinitic Clayey Soil
by Juan Carlos Ruge, Diego Caballero-Rojas, Fausto Molina-Gómez, Renato Pinto da Cunha and Diego Meléndez-Suarez
Geotechnics 2025, 5(3), 66; https://doi.org/10.3390/geotechnics5030066 - 17 Sep 2025
Viewed by 431
Abstract
The insertion into the soil stratum to be evaluated is the factor that most affects the results obtained by the vane shear test (VST). According to the literature, it has been identified that there is a disturbance in the fabric and even in [...] Read more.
The insertion into the soil stratum to be evaluated is the factor that most affects the results obtained by the vane shear test (VST). According to the literature, it has been identified that there is a disturbance in the fabric and even in the movement of soil particles around the probe. The current study allowed the VST to be carried out on kaolinitic clayey soils reconstituted in the laboratory at different historical preconsolidation artificial stresses. The influence of the disturbance on the alteration of the soil analysed is directly linked to the thickness of the vane blades and their corresponding vane area ratio (VA). For this reason, a digital image correlation (DIC) technique was proposed to analyse images taken during the test’s development. The alteration produced by the disturbance was recorded, and the result obtained was compared with previous studies. This analysis established the effect on the reconstituted samples by employing a disturbance parameter specific to this study. Full article
(This article belongs to the Special Issue Recent Advances in Geotechnical Engineering (3rd Edition))
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26 pages, 3530 KB  
Article
Temporizin-1 Meets the Membranes: Probing Membrane Inser-Tion and Disruption Mechanisms
by Rosa Bellavita, Sara Palladino, Karyne Rangel, Guilherme Curty Lechuga, Lorenzo Emiliano Imbò, Lucia Falcigno, Gabriella D’Auria, Leonardo da Silva Lara, Mirian Cláudia de Souza Pereira, Salvatore Giovanni De-Simone, Stefania Galdiero and Annarita Falanga
Antibiotics 2025, 14(9), 913; https://doi.org/10.3390/antibiotics14090913 - 10 Sep 2025
Viewed by 570
Abstract
Background/Objectives: Temporizin-1, a hybrid antimicrobial peptide derived from the combination of Temporin A, Gramicidin peptide, and a poly-leu sequence, has strong trypanocide activity against Trypanosoma cruzi and moderate cytotoxicity towards mammalian cells. In this study, we investigated the mode of action of the [...] Read more.
Background/Objectives: Temporizin-1, a hybrid antimicrobial peptide derived from the combination of Temporin A, Gramicidin peptide, and a poly-leu sequence, has strong trypanocide activity against Trypanosoma cruzi and moderate cytotoxicity towards mammalian cells. In this study, we investigated the mode of action of the peptide upon interaction with protozoan and eukaryotic membranes. Methods: To this end, we conducted a series of biophysical assays using liposomes as biomimetic models, along with fluorescence-based experiments such as lipid mixing, membrane leakage, and assays involving Thioflavin and Laurdan. Results: Temporizin-1 displayed potent membranolytic activity on protozoan and eukaryotic membranes, causing significant membrane fusion and leakage with consequent pore formation. In addition, we also performed structural studies on liposome interaction, where we observed a helical structure that is conserved during membrane interaction. The NMR study confirms all the data obtained, providing both the structure of free Temporizin-1 in solution and the way it interacts with micelles. Moreover, Temporizin-1 demonstrated high selectivity against intracellular forms of T. cruzi and exhibited an additive effect when combined with benznidazole, highlighting its promising therapeutic activity. Conclusions: In conclusion, elucidating the mechanism of action of Temporizin-1 is essential for optimizing its structure and improving target selectivity, and driving the rational design of next-generation antimicrobial peptides by applying chemical strategies and delivery system’s conjugation. Full article
(This article belongs to the Special Issue Development of Antimicrobial Peptides from Amphibian, 2nd Edition)
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17 pages, 543 KB  
Article
Mismatches and Mitigation at CS-PF Interface: The Curious Case of li
by Marijana Marelj
Languages 2025, 10(9), 210; https://doi.org/10.3390/languages10090210 - 26 Aug 2025
Viewed by 820
Abstract
Taking the domain of polar questions in Bosnian/Croatian/Montenegrin/Serbian (BCMS) as the empirical background, the paper probes into the syntax–phonology (CS-PF) interface and discusses insertion and movement as PF-repair strategies mitigating against the lack of convergence at PF. Contra previous accounts, the analysis treats [...] Read more.
Taking the domain of polar questions in Bosnian/Croatian/Montenegrin/Serbian (BCMS) as the empirical background, the paper probes into the syntax–phonology (CS-PF) interface and discusses insertion and movement as PF-repair strategies mitigating against the lack of convergence at PF. Contra previous accounts, the analysis treats li (lexicalization of Q) as a ‘run-of-the-mill’ 2P clitic in BCMS, whose host cannot always be provided by syntax. I provide evidence against Prosodic Inversion—‘the usual suspect’ for post-syntactic movement in Slavic—thus adding to the body of evidence that Prosodic Inversion does not take place in BCMS. I argue that the PF Movement in such cases has to be raising and adopt Local Dislocation to account for them. Probing into the interaction between Future I and polar questions provides further insights into the ordering of PF Movement operations in BCMS. Full article
(This article belongs to the Special Issue SinFonIJA 17 (Syntax, Phonology and Language Analysis))
15 pages, 3768 KB  
Article
Application of MWD Sensor System in Auger for Real-Time Monitoring of Soil Resistance During Pile Drilling
by Krzysztof Trojnar and Aleksander Siry
Sensors 2025, 25(16), 5095; https://doi.org/10.3390/s25165095 - 16 Aug 2025
Viewed by 652
Abstract
Measuring-while-drilling (MWD) techniques have great potential for use in geotechnical engineering research. This study first addresses the current use of MWD, which consists of recording data using sensors in a drilling machine operating on site. It then addresses the currently unsolved problems of [...] Read more.
Measuring-while-drilling (MWD) techniques have great potential for use in geotechnical engineering research. This study first addresses the current use of MWD, which consists of recording data using sensors in a drilling machine operating on site. It then addresses the currently unsolved problems of quality control in drilled piles and assessments of their interaction with the soil under load. Next, an original method of drilling displacement piles using a special EGP auger (Electro-Geo-Probe) is presented. The innovation of this new drilling system lies in the placement of the sensors inside the EGP auger in the soil. These innovative sensors form an integrated measurement system, enabling improved real-time control during pile drilling. The most original idea is the use of a Cone Penetration Test (CPT) probe that can be periodically and remotely inserted at a specific depth below the pile base being drilled. This new MWD-EGP system with cutting-edge sensors to monitor the soil’s impact on piles during drilling revolutionizes pile drilling quality control. Furthermore, implementing this in-auger sensor system is a step towards the development of digital drilling rigs, which will provide better pile quality thanks to solutions based on the results of real-time, on-site soil testing. Finally, examples of measurements taken with the new sensor-equipped auger and a preliminary interpretation of the results in non-cohesive soils are presented. The obtained data confirm the usefulness of the new drilling system for improving the quality of piles and advancing research in geotechnical engineering. Full article
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22 pages, 2003 KB  
Article
ChipletQuake: On-Die Digital Impedance Sensing for Chiplet and Interposer Verification
by Saleh Khalaj Monfared, Maryam Saadat Safa and Shahin Tajik
Sensors 2025, 25(15), 4861; https://doi.org/10.3390/s25154861 - 7 Aug 2025
Viewed by 741
Abstract
The increasing complexity and cost of manufacturing monolithic chips have driven the semiconductor industry toward chiplet-based designs, where smaller, modular chiplets are integrated onto a single interposer. While chiplet architectures offer significant advantages, such as improved yields, design flexibility, and cost efficiency, they [...] Read more.
The increasing complexity and cost of manufacturing monolithic chips have driven the semiconductor industry toward chiplet-based designs, where smaller, modular chiplets are integrated onto a single interposer. While chiplet architectures offer significant advantages, such as improved yields, design flexibility, and cost efficiency, they introduce new security challenges in the horizontal hardware manufacturing supply chain. These challenges include risks of hardware Trojans, cross-die side-channel and fault injection attacks, probing of chiplet interfaces, and intellectual property theft. To address these concerns, this paper presents ChipletQuake, a novel on-chiplet framework for verifying the physical security and integrity of adjacent chiplets during the post-silicon stage. By sensing the impedance of the power delivery network (PDN) of the system, ChipletQuake detects tamper events in the interposer and neighboring chiplets without requiring any direct signal interface or additional hardware components. Fully compatible with the digital resources of FPGA-based chiplets, this framework demonstrates the ability to identify the insertion of passive and subtle malicious circuits, providing an effective solution to enhance the security of chiplet-based systems. To validate our claims, we showcase how our framework detects hardware Trojans and interposer tampering. Full article
(This article belongs to the Special Issue Sensors in Hardware Security)
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12 pages, 4568 KB  
Article
Histomorphometric Evaluation of Gingival Phenotypic Characteristics: A Cross-Sectional Study
by Dimitrios Papapetros, Karin Nylander and Sotirios Kalfas
Dent. J. 2025, 13(8), 350; https://doi.org/10.3390/dj13080350 - 31 Jul 2025
Viewed by 596
Abstract
Objectives: This study aims to explore the histological dimensions of the gingiva and the alveolar mucosa and to evaluate their associations with gingival phenotypic parameters, including gingival thickness (GT), keratinized tissue width (KTW), and gingival transparency. Methods: Histological and clinical assessments were [...] Read more.
Objectives: This study aims to explore the histological dimensions of the gingiva and the alveolar mucosa and to evaluate their associations with gingival phenotypic parameters, including gingival thickness (GT), keratinized tissue width (KTW), and gingival transparency. Methods: Histological and clinical assessments were performed on 45 healthy volunteers. Gingival and mucosal tissue samples were collected from the mucogingival junction region of one maxillary central incisor. Histomorphometric analysis included measurements of gingival and mucosal thickness, epithelial thickness, connective tissue thickness, epithelial papilla length and density, and keratinization. Clinical parameters included KTW and probe visibility upon insertion into the gingival sulcus. Correlations were statistically analyzed between clinical and histological parameters. Results: Probe visibility showed no significant correlations with any assessed parameter. Histological gingival thickness strongly correlated with gingival connective tissue thickness, moderately with epithelial thickness and papilla length, and weakly with papilla density. Mucosal thickness was strongly associated with connective tissue thickness and moderately with keratinization, but not with other parameters. KTW exhibited weak correlations with epithelial thickness and papilla length. Conclusions: Variability in gingival and mucosal thickness is primarily determined by connective tissue thickness, with a smaller contribution from the epithelium. Increased thickness is associated with longer, sparser epithelial papillae and with a tendency toward higher keratinization. KTW is significantly associated with epithelial thickness and papilla length, underscoring its relevance in gingival phenotype characterization. Full article
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12 pages, 3782 KB  
Article
Structural, Magnetic and THz Emission Properties of Ultrathin Fe/L10-FePt/Pt Heterostructures
by Claudiu Locovei, Garik Torosyan, Evangelos Th. Papaioannou, Alina D. Crisan, Rene Beigang and Ovidiu Crisan
Nanomaterials 2025, 15(14), 1099; https://doi.org/10.3390/nano15141099 - 16 Jul 2025
Viewed by 512
Abstract
Recent achievements in ultrafast spin physics have enabled the use of heterostructures composed of ferromagnetic (FM)/non-magnetic (NM) thin layers for terahertz (THz) generation. The mechanism of THz emission from FM/NM multilayers has been typically ascribed to the inverse spin Hall effect (ISHE). In [...] Read more.
Recent achievements in ultrafast spin physics have enabled the use of heterostructures composed of ferromagnetic (FM)/non-magnetic (NM) thin layers for terahertz (THz) generation. The mechanism of THz emission from FM/NM multilayers has been typically ascribed to the inverse spin Hall effect (ISHE). In this work, we probe the mechanism of the ISHE by inserting a second ferromagnetic layer in the form of an alloy between the FM/NM system. In particular, by utilizing the co-sputtering technique, we fabricate Fe/L10-FePt/Pt ultra-thin heterostructures. We successfully grow the tetragonal phase of FePt (L10-phase) as revealed by X-ray diffraction and reflection techniques. We show the strong magnetic coupling between Fe and L10-FePt using magneto-optical and Superconducting Quantum Interference Device (SQUID) magnetometry. Subsequently, by utilizing THz time domain spectroscopy technique, we record the THz emission and thus we the reveal the efficiency of spin-to-charge conversion in Fe/L10-FePt/Pt. We establish that Fe/L10-FePt/Pt configuration is significantly superior to the Fe/Pt bilayer structure, regarding THz emission amplitude. The unique trilayer structure opens new perspectives in terms of material choices for the future spintronic THz sources. Full article
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19 pages, 2166 KB  
Article
Effectiveness of Erythritol-Based Air Polishing and Ultrasonic Instrumentation with PEEK Inserts in Peri-Implant Maintenance: A Randomized Clinical Trial Including Different Prosthetic Materials
by Carolina Maiorani, Andrea Butera, Carlos Pérez-Albacete Martínez, Maurizio Pascadopoli, Silvia Sabatini, Gianna Maria Nardi and Andrea Scribante
Dent. J. 2025, 13(6), 235; https://doi.org/10.3390/dj13060235 - 26 May 2025
Cited by 1 | Viewed by 2101
Abstract
Background: Peri-implant diseases, including mucositis and peri-implantitis, pose a challenge to implant dentistry and require effective maintenance protocols. Professional biofilm removal is essential for peri-implant health, but the optimal decontamination method remains controversial. Methods: This randomized clinical trial compared erythritol-based air polishing and [...] Read more.
Background: Peri-implant diseases, including mucositis and peri-implantitis, pose a challenge to implant dentistry and require effective maintenance protocols. Professional biofilm removal is essential for peri-implant health, but the optimal decontamination method remains controversial. Methods: This randomized clinical trial compared erythritol-based air polishing and ultrasonic instruments with PEEK (polyetheretherketone) inserts in peri-implant maintenance, also regarding the different prosthetic materials. A total of 120 patients with implant-supported feldspar ceramic, zirconia, or lithium disilicate prosthetic crowns were randomly assigned to one of the two decontamination methods. Clinical parameters, including probing pocket depth (PPD), bleeding on probing (BOP), and plaque index (PI), were evaluated at baseline (T0), six months (T1), and twelve months (T2). Statistical analysis was performed using Friedman’s test for repeated measures, followed by Dunn’s post hoc test. Subgroup analysis was conducted based on the prosthetic material. Results: Both treatment modalities led to statistically significant reductions in clinical parameters over 12 months. In the erythritol group, PPD decreased by 21.62%, BOP by 86.62%, and PI by 90.74%. In the ultrasonic group, PPD decreased by 14.86%, BOP by 78.69%, and PI by 64.86% (p < 0.05 for all). No statistically significant differences were observed between groups (p > 0.05). Subgroup analysis revealed similar clinical improvements across all crown materials, suggesting that treatment efficacy was not influenced by the type of prosthetic material. Conclusions: Both erythritol-based air polishing and ultrasonic instrumentation with PEEK inserts are effective and comparable in the maintenance of peri-implant health. As treatment outcomes were independent of crown composition, the choice between modalities should be tailored to patient-specific needs and clinical conditions. Future studies with a longer follow-up are recommended to evaluate the long-term impact on peri-implant tissue stability and to explore the role of prosthetic materials more comprehensively. Full article
(This article belongs to the Topic Oral Health Management and Disease Treatment)
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30 pages, 4446 KB  
Review
Electrical Transport Interplay with Charge Density Waves, Magnetization, and Disorder Tuned by 2D van der Waals Interface Modification via Elemental Intercalation and Substitution in ZrTe3, 2H-TaS2, and Cr2Si2Te6 Crystals
by Xiao Tong, Yu Liu, Xiangde Zhu, Hechang Lei and Cedomir Petrovic
Nanomaterials 2025, 15(10), 737; https://doi.org/10.3390/nano15100737 - 14 May 2025
Viewed by 1128
Abstract
Electrical transport in 2D materials exhibits unique behaviors due to reduced dimensionality, broken symmetries, and quantum confinement. It serves as both a sensitive probe for the emergence of coherent electronic phases and a tool to actively manipulate many-body correlated states. Exploring their interplay [...] Read more.
Electrical transport in 2D materials exhibits unique behaviors due to reduced dimensionality, broken symmetries, and quantum confinement. It serves as both a sensitive probe for the emergence of coherent electronic phases and a tool to actively manipulate many-body correlated states. Exploring their interplay and interdependence is crucial but remains underexplored. This review integratively cross-examines the atomic and electronic structures and transport properties of van der Waals-layered crystals ZrTe3, 2H-TaS2, and Cr2Si2Te6, providing a comprehensive understanding and uncovering new discoveries and insights. A common observation from these crystals is that modifying the atomic and electronic interface structures of 2D van der Waals interfaces using heteroatoms significantly influences the emergence and stability of coherent phases, as well as phase-sensitive transport responses. In ZrTe3, substitution and intercalation with Se, Hf, Cu, or Ni at the 2D vdW interface alter phonon–electron coupling, valence states, and the quasi-1D interface Fermi band, affecting the onset of CDW and SC, manifested as resistance upturns and zero-resistance states. We conclude here that these phenomena originate from dopant-induced variations in the lattice spacing of the quasi-1D Te chains of the 2D vdW interface, and propose an unconventional superconducting mechanism driven by valence fluctuations at the van Hove singularity, arising from quasi-1D lattice vibrations. Short-range in-plane electronic heterostructures at the vdW interface of Cr2Si2Te6 result in a narrowed band gap. The sharp increase in in-plane resistance is found to be linked to the emergence and development of out-of-plane ferromagnetism. The insertion of 2D magnetic layers such as Mn, Fe, and Co into the vdW gap of 2H-TaS2 induces anisotropic magnetism and associated transport responses to magnetic transitions. Overall, 2D vdW interface modification offers control over collective electronic behavior, transport properties, and their interplays, advancing fundamental science and nanoelectronic devices. Full article
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22 pages, 4545 KB  
Article
The Manifestation of the Dual ROS-Processing and Redox Signaling Roles of Glutathione Peroxidase-like Enzymes in Development of Arabidopsis Seedlings
by Krisztina Bela, Bernát Tompa, Riyazuddin Riyazuddin, Edit Horváth, Krisztián Jász, Ádám Hajnal, Sajid Ali Khan Bangash, Ágnes Gallé and Jolán Csiszár
Antioxidants 2025, 14(5), 518; https://doi.org/10.3390/antiox14050518 - 25 Apr 2025
Viewed by 851
Abstract
Plant glutathione peroxidase-like (GPXL) enzymes are thiol-based peroxidases that reduce H2O2 or hydroperoxides to water or alcohols using electrons principally from thioredoxin. Arabidopsis thaliana possesses eight isoenzymes (AtGPXL1−8) located in different plant organelles and have various roles in redox-dependent processes. [...] Read more.
Plant glutathione peroxidase-like (GPXL) enzymes are thiol-based peroxidases that reduce H2O2 or hydroperoxides to water or alcohols using electrons principally from thioredoxin. Arabidopsis thaliana possesses eight isoenzymes (AtGPXL1−8) located in different plant organelles and have various roles in redox-dependent processes. The determination of the redox potential of 6-day-old T-DNA insertional mutants (Atgpxl1Atgpxl8) using a cytosolic redox-sensitive fluorescent probe (roGFP2) uncovered more oxidized redox status in the shoot and/or root of the untreated mutants, except for Atgpxl5. To investigate the involvement of AtGPXLs in the growth and abiotic stress responses of seedlings, the 4-day-old Atgpxls were exposed to salt and osmotic stresses for two weeks. The evaluation of the reactive oxygen species (ROS) levels of untreated 18-day-old plants using fluorescent microscopy revealed the elevated accumulation of total ROS in the shoots and, in some cases, the roots of the mutants. Regarding the growth of roots, both the length of primary roots and/or the number of lateral roots were affected by the mutation of AtGPXLs. A strong negative correlation was observed between the ROS level of wild type shoots and the development of lateral roots, but it was altered in mutants, while in the case of Atgpxl1, Atgpxl5, and Atgpxl7 seedlings, it disappeared; in other mutants (Atgpxl4, Atgpxl6, and Atgpxl8), the correlation became stronger. Our analysis underpins the discrete role of AtGPXL enzymes in controlling the growth and development of plants by fine tuning the ROS contents and redox status in an organ-specific way. Differences in root phenotype and metabolic activity between Atgpxl mutants and wild type plants highlight the essential role of AtGPXLs in ROS processing to support growth, which is particularly evident when one GPXL isoenzyme is absent or its activity is reduced, both under normal and abiotic stress conditions. Full article
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17 pages, 5966 KB  
Article
Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders
by Martina Vinci, Carmela Zizzo, Marta Moschetti, Miriam Giacomarra, Monia Anania, Giulia Duro, Tiziana Di Chiara, Maria Russo, Elisa Messina, Paolo Colomba and Giovanni Duro
Biomedicines 2025, 13(4), 973; https://doi.org/10.3390/biomedicines13040973 - 16 Apr 2025
Viewed by 1041
Abstract
Background: Multiplex Ligation Probe Amplification (MLPA) is a widely used technique for the diagnosis of lysosomal storage diseases (LSDs). It analyses over 40 DNA sequences in a single reaction, identifying copy number variations and large deletions/insertions in genes. The diagnostic process in LSDs [...] Read more.
Background: Multiplex Ligation Probe Amplification (MLPA) is a widely used technique for the diagnosis of lysosomal storage diseases (LSDs). It analyses over 40 DNA sequences in a single reaction, identifying copy number variations and large deletions/insertions in genes. The diagnostic process in LSDs starts with analysis of the missing or reduced enzyme, followed by genetic investigation and, if possible, a search for accumulated substrates. However, while genetic analysis using Sanger sequencing is excellent at detecting small genetic variations such as single-nucleotide variants (SNVs) and small insertions or deletions, it cannot detect large deletions or insertions. Methods: In the present study, a total of 800 patients with clinical suspicion of Fabry, Gaucher, or Pompe diseases were investigated. An enzyme assay was carried out on each patient, followed by genetic analysis using PCR, Sanger sequencing, and MLPA. Results: Nine patients with deficient or absent enzyme activity had Sanger sequencing results that could not confirm the molecular genetic diagnosis because either no mutation (Fabry) or only one mutation (Gaucher and Pompe) was identified. Subsequent analysis by MLPA identified two males with a hemizygous deletion and two females with a heterozygous deletion for FD. For PD, one female and two males had a heterozygous deletion. For GD, one male had a homozygous deletion and one female had a heterozygous deletion. The remaining patients were analyzed by MLPA with negative results. Conclusions: The results obtained suggest that MLPA should be used in combination with classical sequencing methods to ensure a correct and timely diagnosis of LSDs. Full article
(This article belongs to the Section Molecular Genetics and Genetic Diseases)
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12 pages, 3003 KB  
Article
Construction of CPW Pogo Pin Probes for RFIC Measurements
by K. M. Lee, J. S. Kim, S. Ahn, E. Park, J. Myeong and M. Kim
Sensors 2025, 25(6), 1677; https://doi.org/10.3390/s25061677 - 8 Mar 2025
Viewed by 1869
Abstract
A new radio frequency (RF) probe using pogo pin tips for integrated chip (IC) measurement up to 50 GHz is proposed. It offers high durability due to the pogo pins and meets three key design criteria for general IC measurement: (1) a 45° [...] Read more.
A new radio frequency (RF) probe using pogo pin tips for integrated chip (IC) measurement up to 50 GHz is proposed. It offers high durability due to the pogo pins and meets three key design criteria for general IC measurement: (1) a 45° tilted shape with a 70 μm tip protrusion for easy microscope inspection, (2) linear pogo pin alignment for commercial chip pad contact, and (3) a 250 μm pitch compatible with standard IC pad pitches. This design is distinct from traditional pogo pin probe cards which place pogo pins in vertical form, in a diagonal arrangement, and at wide intervals. The probe exhibits a low insertion loss of 1.6 dB at 45 GHz. A printed circuit board (PCB)-based calibration standard for the calibration of the designed probe is constructed, which is adjusted to inductance and capacitance values using a simulation to form the Vector Network Analyzer (VNA) calibration set. The measurements of a commercial amplifier IC using this probe show a nearly identical performance to commercial RF probes, confirming its accuracy and reliability. Full article
(This article belongs to the Special Issue Intelligent Circuits and Sensing Technologies: Second Edition)
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7 pages, 2689 KB  
Case Report
Cryptic KMT2A::AFDN Fusion Due to AFDN Insertion into KMT2A in a Patient with Acute Monoblastic Leukemia
by Qing Wei, Gokce A. Toruner, Beenu Thakral, Keyur P. Patel, Naveen Pemmaraju, Sa A. Wang, Rashmi Kanagal-Shamanna, Guilin Tang, Ghayas C. Issa, Sanam Loghavi, L Jeffrey Medeiros and Courtney DiNardo
Genes 2025, 16(3), 317; https://doi.org/10.3390/genes16030317 - 7 Mar 2025
Cited by 1 | Viewed by 1549
Abstract
Background: KMT2A rearrangements occur in ~10% of acute myeloid leukemia (AML) cases and are critical for classification, risk stratification, and use of targeted therapy. However, insertions involving the KMT2A gene can evade detection using chromosomal analysis and/or fluorescence in situ hybridization (FISH). Methods: [...] Read more.
Background: KMT2A rearrangements occur in ~10% of acute myeloid leukemia (AML) cases and are critical for classification, risk stratification, and use of targeted therapy. However, insertions involving the KMT2A gene can evade detection using chromosomal analysis and/or fluorescence in situ hybridization (FISH). Methods: We present a case of a 22-year-old woman with acute monoblastic leukemia harboring a cryptic KMT2A::AFDN fusion identified by RNA sequencing. Initial FISH showed a 3′ KMT2A deletion, while conventional karyotyping and the automated bioinformatic pipeline for optical genome mapping (OGM) did not identify the canonical translocation. Results: To resolve these discrepancies, metaphase KMT2A FISH (break-apart fusion probe) was performed to assess whether KMT2A was translocated to another chromosome. However, the results did not support this possibility. As the fusion signal remained on the normal chromosome 11, with the 5′ KMT2A signal localized to the derivative chromosome 11. A subsequent manual review of the OGM data revealed a cryptic ~300 kb insertion of AFDN into the 3′ region of KMT2A, reconciling the discrepancies between chromosomal analysis, FISH, and RNA fusion results. Conclusions: This case highlights the importance of integrating multiple testing modalities with expert review when there is a discrepancy. Our findings emphasize the need for a comprehensive approach to genomic assessment to enhance diagnostic accuracy and guide therapeutic decision-making. Full article
(This article belongs to the Special Issue Clinical Molecular Genetics in Hematologic Diseases)
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