bluuebunny/crossref_metadata_2025 huggingface dataset:
PEX6 Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review
Authors: Slanina Ana-Maria , Coman Adorata-Elena , Anton-Păduraru Dana-Teodora , Popa Elena , Barbacariu Carmen-Liliana , Novac Otilia , Petroaie Antoneta Dacia , Bacușcă Agnes-Iacinta , Manole Mihaela , Cosmescu Adriana
Published: March 2023

The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental complications and progressive disabilities. Genetic testing revealed a mutation of the PEX6 (Peroxisomal Biogenesis Factor 6) gene, and the metabolic profile was consistent with the diagnosis. Particularly, the child also presented altered coagulation factors and developed a spontaneous brain hemorrhage. The clinical picture includes several neurological, ophthalmological, digestive, cutaneous, and endocrine disorders as a result of the very long chain fatty acid accumulation as well as secondary oxidative anomalies. The study of metabolic disorders occurring because of genetic mutations is a subject of core importance in the pathology of children today. The PEX mutations, difficult to identify antepartum, are linked to an array of cell anomalies with severe consequences on the patient’s status, afflicting multiple organs and systems. This is the reason for which our case history may be relevant, including a vast number of symptoms, as well as modified biological parameters.
Utilizing Imaging Analysis to Determine the Internal Structure Characteristics of Asphalt Mixtures for Permeability and Moisture Damage Performance
Authors: Hemnithi Nithinan , Chaturabong Preeda
Published: March 2023

Moisture is a significant problem in standard pavements, causing asphalt mixtures to deteriorate due to insufficient water permeability. This failure from moisture damage is often caused by precipitation accumulation or poor drainage, which allows water to weaken adhesion by seeping between the aggregates and the asphalt. The relationship between permeability and aggregate contact length is believed to be inverse. To effectively assess water permeability performance and moisture damage, an asphalt concrete design criterion was established using the Image Processing and Analysis System (IPAS) to determine aggregate contact lengths. The objective of this research was to use laboratory experiments in conjunction with IPAS to investigate air-void-controlled asphalt mixtures with various material properties and assess the correlation of water permeability with other factors. The results show that AC60/70, AC60/70+Carbon Black, and AC60/70+SBS combinations with coconut peat filler had the lowest permeability coefficient (k) among similar mixtures, with values of 0.056 × 10−5 cm/s, 0.010 × 10−5 cm/s, and 1.508 × 10−5 cm/s, respectively. Both the dense and porous gradations of the modified asphalt binder demonstrated positive linear relationships between TSR and permeability. This study found a strong linear relationship between TSR (tensile strength ratio) and k (permeability coefficient) in both dense and porous modified asphalt binder gradations, with R2 values of 0.79 and 0.74, respectively. Additionally, we found that the number of contact points and contact length in the skeleton strongly influenced the mixes’ permeability, with a linear trend of 0.93 for both indices.
Comparative Analysis of Strength Fatigue Properties and Abrasive Wear Resistance for a New Composition of Polymer Concrete Coated with Metal Alloy Powders
Authors: Nikonova Tatyana , Gierz Łukasz , Berg Alexandra , Turla Vytautas , Warguła Łukasz , Yurchenko Vassiliy , Abdugaliyeva Gulnur , Zhunuspekov Darkhan , Wieczorek Bartosz , Robakowska Mariola , Essim Dandybaev
Published: March 2023

The possibility of using powder spraying to improve the strength properties of polymer concrete products has been studied. Different compositions of polymer concrete mixtures have been compared and analyzed in order to find out the adhesive and cohesive properties of coatings. An analysis of the stress-strain state under static loads has been carried out. To improve the tribological properties and wear resistance of critical parts of metal-cutting machine tools, such as beds, it is proposed to spray polymer concrete surfaces using the gas-thermal method. Two types of powder mixtures for spraying have been compared, and the adhesive properties of the analyzed coatings have been considered. The finite element method was used for the calculation of the abrasion resistance of polymer concrete models according to the proposed modification of Ni-7Cr-3Fe + 60% WC coating composition, which showed that the use of gas-thermal coating for polymer concrete is justified. Based on a simulation of adhesive peeling strength, it can be concluded that the wear coefficient of the coated sample is quite large. Under the impact of amplitude loads applied during 5 × 106 loading cycles with a high degree of wear equal to 1.5, the sample showed high safety margins equal to 0.67. The presence of a sprayed layer prevents the concentration of internal stresses in the area of polymer concrete, taking over the resulting stresses under an external force caused by the mechanical properties of the materials, thereby increasing the service life of a manufactured part.
Temperature Dependence of the Electroclinic Effect in the Twist-Bend Nematic Phase
Authors: Meyer Claire , Davidson Patrick , Luckhurst Geoffrey R. , Dokli Irena , Knežević Anamarija , Lesac Andreja , Paterson Daniel A. , Walker Rebecca , Storey John M. D. , Imrie Corrie T. , Dozov Ivan
Published: March 2023

The twist-bend nematic (NTB) phase of bent-shaped molecules has recently attracted much attention due to the spontaneous bend of its director field and the doubly-degenerate chirality of its heliconical structure. Despite intensive experimental and theoretical investigation worldwide, the main structural characteristics (pitch and conical angle) and elastic properties of the phase are still barely understood. This is mainly due to the difficulty in growing large single domains of the NTB phase, which prevents the application of the powerful electro-optical techniques developed for the nematic (N) phase. Moreover, the twist and bend distortions of the optic axis are forbidden by the pseudo-layered structure of the NTB phase, which makes its response to the field smectic-like instead of nematic-like. Therefore, the only macroscopic electric effect that can be observed deep in the NTB phase is the smectic-like “electroclinic” effect (ECENTB). Here, we achieve large monochiral NTB domains which remain uniform over a wide temperature range (20–60 °C) in thin (1.5 µm) planar cells, thus avoiding the so-called stripe- and rope-like textural instabilities. This allowed us to experimentally determine, using electro-optical measurements, the temperature dependence of the ECENTB response in four different NTB materials: namely the dimers CB7CB, CB9CB, CB6OCB, and BNA76. For all compounds, the thermal dependences of conical angle and pitch in the vicinity of the N-NTB transition follow the theoretically predicted power law behaviour. However, the agreement between the measured and predicted power law exponents remains only qualitative, which calls for improvement of the theoretical models.
First-Principles Study of the Effects of Ti Content on Mechanical Properties and Microscopic Mechanism in Cu2AlMn1–xTix Alloys
Authors: Zheng Kaiyang , Xu Shuang , Liu Lisheng , Liu Jili
Published: March 2023

It has been found that the addition of Ti can improve the strength of Cu-Al-Mn alloys and adjust their mechanical properties. However, the internal mechanism has not been fully understood. In order to clarify the influence of Ti content on the mechanical properties and microscopic mechanism of Cu-Al-Mn alloys, the mechanical, structural, and electronic properties of Cu2AlMn1–xTix (x = 0, 0.25, 0.50, 0.75, 1) alloys were studied by first-principles calculations. Results show that the substituted Ti prefers to occupy the Mn site directly due to the lower formation energy. With the increase of Ti substitution content, the L21 phase stability of the alloy improves. Moreover, the elastic modulus of the alloy increases and the anisotropy factor decreases. Further analysis shows that the proportion of antibonding states under the Fermi energy of the alloy decreases and the covalent bond is enhanced after Ti substitutes Mn, which is the main mechanism for the enhancement of stability and mechanical properties. Mulliken charges change little after Ti replaces Mn, indicating that Ti has little effect on the ionic bond strength.
Comparative Study of Biocompatible Titanium Alloys Containing Non-Toxic Elements for Orthopedic Implants
Authors: Azmat Ambreen , Asrar Shafaq , Channa Iftikhar Ahmed , Ashfaq Jaweria , Ali Chandio Irfan , Chandio Ali Dad , Ali Shar Muhammad , AlSalhi Mohamad S. , Devanesan Sandhanasamy
Published: March 2023

Titanium alloys, particularly Ti6Al4V, are commonly used in biomedical applications. However, the inclusion of aluminum (Al) and vanadium (V) in this alloy can cause cytotoxic effects in the human body, resulting in Alzheimer’s disease and cancer. This study compares the performance of biocompatible alloys containing non-toxic elements, such as tin (Sn) and niobium (Nb), which are considered safe for implantation. Two sets of alloys were selected, Ti5Sn and Ti5Sn5Nb, and their properties were compared to Ti6Al4V. First, the alloys were prepared using a power metallurgical technique. Then, their phase analysis, hardness, wear resistance, strength, and corrosion performance in simulated body fluid (SBF) solution were characterized. Optical microscopy was used to study the microstructure, XRD was used to identify phases, and electrochemical testing was conducted to assess the alloys’ anodic and cathodic characteristics. Nanoindentation techniques were used to analyze surface characteristics, such as elastic modulus, nano hardness, and wear resistance. The results showed the alloys containing Nb and Sn had lower corrosion rates in SBF solution compared to Al-containing alloys. Moreover, Nb-containing alloys exhibited the highest hardness, 72% higher than Al-containing alloys. The corrosion-resistant properties of the alloys containing Nb and Sn were higher than those without Nb or Sn, suggesting they may be ideal for orthopedic implants in humans.
The Co-Crystallization of 4-Halophenylboronic Acid with Aciclovir, Caffeine, Nitrofurazone, Theophylline, and Proline in Function of Weak Interactions
Authors: Dyulgerov Ventsislav , Sbirkova-Dimitrova Hristina , Iliev Kostadin , Shivachev Boris
Published: March 2023

Co-crystallization experiments of 4-halophenylboronic acid with several pharmaceutical compounds (including aciclovir, caffeine, nitrofurazone, and proline) produced several new molecular complexes. The experiments involved varying the solvent and the molar ratio of boronic acid to a pharmaceutical compound (e.g., 1:1, 2:1, 1:2). The screening process for new crystal phases revealed that the formation of the different molecular complexes was strongly influenced by the molar ratio and the presence or absence of water in the solvent. The new molecular crystals were characterized through single crystal X-ray diffraction and differential scanning calorimetry (DSC) analyses. The single crystal analyses of the molecular complexes revealed an unexpected variety in the hydrogen bonding network interactions that can be produced by the –B(OH)2 motif.
Effect of Grain-Size in Nanocrystalline Tungsten on Hardness and Dislocation Density: A Molecular Dynamics Study
Authors: Karafi Toufik , Tahiri Abdellah , Chabba Hanae , Idiri Mohamed , Boubeker Brahim
Published: March 2023

We have simulated a series of nanoindentation experiments on nanocrystalline tungsten specimens using a combination of molecular dynamics simulations and the embedded atom method potential. The research aimed to investigate the impact of grain size on the mechanical properties of tungsten. Nanoindentation is a technique used to measure the mechanical properties of materials at a small scale. In this study, the researchers varied the grain size of the tungsten specimens, ranging from 7.9 to 10.5 nanometers. They also applied a loading rate of 3 angstroms per picosecond at a temperature of 300 Kelvin. The study found that as the grain size increased, the hardness increased, and the elastic modulus decreased. Hardness is a measure of a material’s resistance to deformation, and the elastic modulus is a measure of a material’s stiffness. The findings suggest that as the grain size of tungsten increases, the material becomes harder but less stiff. Additionally, the study explored the ways in which nanocrystalline tungsten deformed during nanoindentation. The researchers found that the deformation of the material was primarily due to dislocation activity, which is consistent with previous research on the topic. Overall, the findings of this research provide valuable insights into the mechanical properties of nanocrystalline tungsten and the ways in which the material deforms under stress. These findings could have practical applications in the development of materials for use in various industries.
Synthesis and Physiological Remodeling of CD34 Cells in the Skin following the Reversal of Fibrosis through Intensive Treatment for Lower Limb Lymphedema: A Case Report
Authors: Pereira de Godoy Jose Maria , Pereira de Godoy Ana Carolina , Guerreiro Godoy Maria de Fatima , de Santi Neto Dalisio
Published: March 2023

A novel type of cell underwent identification between 2005 and 2008 and was denominated the “telocyte” in 2010. In 2012, transmission electron microscopy revealed the presence of telocytes in the dermis. The aim of the present study was to report important changes in immunostained CD34 cells following the treatment of lower limb lymphedema using a specific lymphatic therapy technique. A clinical trial involving the evaluation of changes in immunostained CD34 cells in the epidermis and dermis (10 randomly selected histological fields) of a patient before and after intensive treatment for clinical stage II lymphedema was conducted using the Godoy Method, which was adapted to the treatment of skin fibrosis. The evaluation involved the use of the Weibel multi-point morphometric method. Comparisons were performed using the t-test with a 95% significance level. An important increase in CD34 cells was found with redistribution occurring following treatment. The treatment of primary lymphedema of the lower limbs resulted in the clinical reversal of fibrosis and an increase in the number of immunomarked CD34 cells.
Photography as the Sole Means of Proof: Medical Liability in Dermatology
Authors: Marrone Maricla , Caterino Cristina , Musci Gianluca , Cazzato Gerardo , Ingravallo Giuseppe , Lupo Carmelo , Casatta Nadia , Stellacci Alessandra , Armenio Andrea
Published: March 2023

Malignant melanoma is a cutaneous malignancy resulting from the uncontrolled proliferation of melanocytes and poses a challenge diagnostically because neoplastic lesions can mimic benign lesions, which are much more common in the population. Doctors, when they suspect the presence of melanoma, arrange for its removal and the performance of a histological examination to ascertain its diagnosis; in cases where the dermatoscopic examination is indicative of benignity, however, after the lesion is removed, histological examination is not always performed, a very dangerous occurrence and a harbinger of further medico-legal problems. The authors present a court litigation case of an “alleged” failure to diagnose malignant melanoma in a patient who died of brain metastases from melanoma in the absence of a certain location of the primary tumor: the physician who had removed a benign lesion a few months earlier was sued, and only thanks to the presence of photographic documentation was the health care provider able to prove his extraneousness. The aim of this paper is to formulate a proposal for a dermatological protocol to be followed in cases of excisions of benign skin lesions with a twofold purpose: on the one hand, to be able to prove, in a judicial context, the right action on the part of the sanitarians; on the other hand, to avoid the rise of so-called “defensive medicine”.
Clinicians’ Guide to Artificial Intelligence in Colon Capsule Endoscopy—Technology Made Simple
Authors: Lei Ian I. , Nia Gohar J. , White Elizabeth , Wenzek Hagen , Segui Santi , Watson Angus J. M. , Koulaouzidis Anastasios , Arasaradnam Ramesh P.
Published: March 2023

Artificial intelligence (AI) applications have become widely popular across the healthcare ecosystem. Colon capsule endoscopy (CCE) was adopted in the NHS England pilot project following the recent COVID pandemic’s impact. It demonstrated its capability to relieve the national backlog in endoscopy. As a result, AI-assisted colon capsule video analysis has become gastroenterology’s most active research area. However, with rapid AI advances, mastering these complex machine learning concepts remains challenging for healthcare professionals. This forms a barrier for clinicians to take on this new technology and embrace the new era of big data. This paper aims to bridge the knowledge gap between the current CCE system and the future, fully integrated AI system. The primary focus is on simplifying the technical terms and concepts in machine learning. This will hopefully address the general “fear of the unknown in AI” by helping healthcare professionals understand the basic principle of machine learning in capsule endoscopy and apply this knowledge in their future interactions and adaptation to AI technology. It also summarises the evidence of AI in CCE and its impact on diagnostic pathways. Finally, it discusses the unintended consequences of using AI, ethical challenges, potential flaws, and bias within clinical settings.
Leveraging Deep Learning Decision-Support System in Specialized Oncology Center: A Multi-Reader Retrospective Study on Detection of Pulmonary Lesions in Chest X-ray Images
Authors: Kvak Daniel , Chromcová Anna , Hrubý Robert , Janů Eva , Biroš Marek , Pajdaković Marija , Kvaková Karolína , Al-antari Mugahed A. , Polášková Pavlína , Strukov Sergei
Published: March 2023

Chest X-ray (CXR) is considered to be the most widely used modality for detecting and monitoring various thoracic findings, including lung carcinoma and other pulmonary lesions. However, X-ray imaging shows particular limitations when detecting primary and secondary tumors and is prone to reading errors due to limited resolution and disagreement between radiologists. To address these issues, we developed a deep-learning-based automatic detection algorithm (DLAD) to automatically detect and localize suspicious lesions on CXRs. Five radiologists were invited to retrospectively evaluate 300 CXR images from a specialized oncology center, and the performance of individual radiologists was subsequently compared with that of DLAD. The proposed DLAD achieved significantly higher sensitivity (0.910 (0.854–0.966)) than that of all assessed radiologists (RAD 10.290 (0.201–0.379), p < 0.001, RAD 20.450 (0.352–0.548), p < 0.001, RAD 30.670 (0.578–0.762), p < 0.001, RAD 40.810 (0.733–0.887), p = 0.025, RAD 50.700 (0.610–0.790), p < 0.001). The DLAD specificity (0.775 (0.717–0.833)) was significantly lower than for all assessed radiologists (RAD 11.000 (0.984–1.000), p < 0.001, RAD 20.970 (0.946–1.000), p < 0.001, RAD 30.980 (0.961–1.000), p < 0.001, RAD 40.975 (0.953–0.997), p < 0.001, RAD 50.995 (0.985–1.000), p < 0.001). The study results demonstrate that the proposed DLAD could be utilized as a decision-support system to reduce radiologists’ false negative rate.
Task Assignment for UAV Swarm Saturation Attack: A Deep Reinforcement Learning Approach
Authors: Qian Feng , Su Kai , Liang Xin , Zhang Kan
Published: March 2023

Task assignment is a challenging problem in multiple unmanned aerial vehicle (UAV) missions. In this paper, we focus on the task assignment problem for a UAV swarm saturation attack, in which a deep reinforcement learning (DRL) framework is developed. Specifically, we first construct a mathematical model to formulate the task assignment problem for a UAV swarm saturation attack and consider it as a Markov Decision Process (MDP). We then design a policy neural network using the attention mechanism. We also propose a training algorithm based on the policy gradient method so that our agent can learn an effective task assignment policy. The experimental results have shown that our DRL method can generate high-quality solutions for different problem scales, which meets the requirements of real-time and flexibility in the actual situation.
Multilayer Ceramic Capacitors: An Overview of Failure Mechanisms, Perspectives, and Challenges
Authors: Laadjal Khaled , Cardoso Antonio J. Marques
Published: March 2023

Along with the growing of population and social and technological improvements, the use of energy and natural resources has risen over the past few decades. The sustainability of using coal, oil, and natural gas as the main energy sources faces, however, substantial obstacles. Fuel cells, batteries, and super-capacitors have the highest energy densities, but due to their high-power density and rapid charge-discharge speed, regular dielectric capacitors are becoming more popular for pulsed power applications. High electric breakdown strength and high maximum but low-remnant (zero in the case of linear dielectrics) polarization are necessary for high energy density in dielectric capacitors. The high performance, multi-functionality, and high integration of electronic devices are made possible in large part by the multilayer ceramic capacitors (MLCCs). Due to their low cost, compact size, wide capacitance range, low ESL and ESR, and excellent frequency response, MLCCs play a significant role in contemporary electronic devices. From the standpoint of the underlying theories of energy storage in dielectrics, this paper emphasizes the significant problems and recent advancements in building extremely volumetric-efficient MLCCs. Following a thorough examination of the state-of-the-art, important parameters that may be used to improve energy-storage qualities are highlighted, such as controlling local structure, phase assembly, dielectric layer thickness, microstructure, conductivity, different failure modes, and the specific performance during the failure mechanism. The summary of some conclusions on the impending need for innovative materials and diagnostic methods in high-power/energy density capacitor applications appears at the end of the paper.
Computational Offloading for MEC Networks with Energy Harvesting: A Hierarchical Multi-Agent Reinforcement Learning Approach
Authors: Sun Yu , He Qijie
Published: March 2023

Multi-access edge computing (MEC) is a novel computing paradigm that leverages nearby MEC servers to augment the computational capabilities of users with limited computational resources. In this paper, we investigate the computational offloading problem in multi-user multi-server MEC systems with energy harvesting, aiming to minimize both system latency and energy consumption by optimizing task offload location selection and task offload ratio.We propose a hierarchical computational offloading strategy based on multi-agent reinforcement learning (MARL). The proposed strategy decomposes the computational offloading problem into two sub-problems: a high-level task offloading location selection problem and a low-level task offloading ratio problem. The complexity of the problem is reduced by decoupling. To address these sub-problems, we propose a computational offloading framework based on multi-agent proximal policy optimization (MAPPO), where each agent generates actions based on its observed private state to avoid the problem of action space explosion due to the increasing number of user devices. Simulation results show that the proposed HDMAPPO strategy outperforms other baseline algorithms in terms of average task latency, energy consumption, and discard rate.
Hydraulic and Economical Traits in Short- and Long-Shoot Leaves of Ginkgo biloba Males and Females
Authors: Liu Huihui , Zhang Cheng , Meng Yanqiong , Zhang Fengyu , Huang Nuo , Wang Jianan , Li Yiyong
Published: March 2023

Ginkgo biloba is a dioecious heterophyllous tree species with two leaf types. Short shoots always bear many leaves, which are undivided or slightly bilobed, but long-shoot leaves are smaller and are deeply divided into two or more lobes. To clarify the functional difference between the two leaf types, we investigated the morphology, anatomy, gas exchange, and hydraulic traits of the two leaf types in male and female trees. Our results showed that long-shoot leaves possessed a lower specific leaf area (SLA), higher leaf thickness, gas exchange rates, and average tracheid number than short-shoot leaves. When compared to short-shoot leaves, long-shoot leaves in male trees had higher leaf hydraulic conductance (Kleaf) and leaf water potential of 50% loss in Kleaf (leaf P50), while female trees exhibited relatively higher Kleaf. When comparing sexual differences, male trees possessed higher leaf thickness, leaf dissection index, vein density (VD), and predawn leaf water potential and lower SLA, tracheid number, and midday leaf water potential, while no significant difference in leaf P50 was observed between the two sexes. Male trees exhibited greater leaf gas exchange rates, which were tightly associated with other functional traits, such as VD and Kleaf. We found strong shoot-based and sex-related heterogeneities in the leaf hydrology, anatomy, and economy of Ginkgo biloba. Moreover, male ginkgoes may perform better due to their greater leaf hydraulic efficiency and gas exchange rates.
Beamforming Based on a SSS Angle Estimation Algorithm for 5G NR Networks
Authors: Andrade Daniel , Magueta Roberto , Silva Adão , Marques Paulo
Published: March 2023

The current 5G-NR standard includes the transmission of multiple synchronization signal blocks (SSBs) in different directions to be exploited in beamforming techniques. However, choosing a pair of these beams leads to performance degradation, mainly for the cases where the transmit and receive beams are not aligned, because it considers that only few fixed directions among wide beams are established. Therefore, in this article, we design a new 3GPP-standard- compliant beam pair selection algorithm based on secondary synchronization signal (SSS) angle estimation (BSAE) that makes use of multiple synchronization signal blocks (SSBs) to maximize the reference signal received power (RSRP) value at the receiver. This optimization is performed using the SSSs present in each SSB to perform channel estimation in the digital domain. Afterwards, the combination of those estimations is used to perform equivalent channel propagation matrix estimation without the analog processing effects. Finally, through the estimated channel propagation matrix, the angle that maximizes the RSRP is determined to compute the most suitable beam. The proposed algorithm was evaluated and compared with a conventional beam pair selection algorithm. Ours has better performance results. Furthermore, the proposed algorithm achieved performance close to the optimal performance, where all channel state information (CSI) is available, emphasizing the interest of the proposed approach for practical 5G mmWave mMIMO implementations.
Selection and Validation of Reference Genes for Gene Expression Studies in an Equine Adipose-Derived Mesenchymal Stem Cell Differentiation Model by Proteome Analysis and Reverse-Transcriptase Quantitative Real-Time PCR
Authors: Riveroll Angela L. , Skyba-Lewin Sabrina , Lynn K. Devon , Mubyeyi Glady’s , Abd-El-Aziz Ahmad , Kibenge Frederick S. T. , Kibenge Molly J. T. , Cohen Alejandro M. , Esparza-Gonsalez Blanca , McDuffee Laurie , Montelpare William J.
Published: March 2023

Adipose-derived stem cells (ADSCs) are used in tissue regeneration therapies. The objective of this study is to identify stable reference genes (RGs) for use in gene expression studies in a characterized equine adipose-derived mesenchymal stem cell (EADMSC) differentiation model. ADSCs were differentiated into adipocytes (ADs) or osteoblasts (OBs), and the proteomes from these cells were analyzed by liquid chromatography tandem mass spectrometry. Proteins that were stably expressed in all three cells types were identified, and the mRNA expression stabilities for their corresponding genes were validated by RT-qPCR. PPP6R1, CCDC97, and then either ACTB or EPHA2 demonstrated the most stable mRNA levels. Normalizing target gene Cq data with at least three of these RGs simultaneously, as per MIQE guidelines (PPP6R1 and CCDC97 with either ACTB or EPHA2), resulted in congruent conclusions. FABP5 expression was increased in ADs (5.99 and 8.00 fold, p = 0.00002 and p = 0.0003) and in OBs (5.18 and 5.91 fold, p = 0.0011 and p = 0.0023) relative to ADSCs. RUNX2 expression was slightly higher in ADs relative to ADSCs (1.97 and 2.65 fold, p = 0.04 and p = 0.01), but not in OBs (0.9 and 1.03 fold, p = 0.58 and p = 0.91).
Molecular Heterogeneity of Pediatric AML with Atypical Promyelocytes Accumulation in Children—A Single Center Experience
Authors: Borkovskaia Aleksandra , Bogacheva Sofia , Konyukhova Tatiana , Dadakhanova Elina , Gaskova Marina , Soldatkina Olga , Dubrovina Maria , Popov Alexander , Mikhailova Ekaterina , Inushkina Evgenia , Kazanov Marat , Matveev Evgeniy , Novichkova Galina , Maschan Michael , Maschan Alexey , Olshanskaya Yulia , Zerkalenkova Elena
Published: March 2023

Acute promyelocytic leukemia (APL) pathogenesis is based on RARA gene translocations, which are of high importance in the diagnosis of and proper therapy selection for APL. However, in some cases acute myeloid leukemia (AML) demonstrates APL-like morphological features such as atypical promyelocytes accumulation. This type of AML is characterized by the involvement of other RAR family members or completely different genes. In the present study, we used conventional karyotyping, FISH and high-throughput sequencing in a group of 271 de novo AML with atypical promyelocytes accumulation. Of those, 255 cases were shown to carry a typical chromosomal translocation t(15;17)(q24;q21) with PML::RARA chimeric gene formation (94.1%). Other RARA-positive cases exhibited cryptic PML::RARA fusion without t(15;17)(q24;q21) (1.8%, n = 5) and variant t(5;17)(q35;q21) translocation with NPM1::RARA chimeric gene formation (1.5%, n = 4). However, 7 RARA-negative AMLs with atypical promyelocytes accumulation were also discovered. These cases exhibited TBL1XR1::RARB and KMT2A::SEPT6 fusions as well as mutations, e.g., NPM1 insertion and non-recurrent chromosomal aberrations. Our findings demonstrate the genetic diversity of AML with APL-like morphological features, which is of high importance for successful therapy implementation.
The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations
Authors: Genovese Ann , Butler Merlin G.
Published: March 2023

Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic neurobehavioral disorders associated with developmental impairments in social communication skills and stereotypic, rigid or repetitive behaviors. We review common behavioral, psychiatric and genetic associations related to ASD. Autism affects about 2% of children with 4:1 male-to-female ratio and a heritability estimate between 70 and 90%. The etiology of ASD involves a complex interplay between inheritance and environmental factors influenced by epigenetics. Over 800 genes and dozens of genetic syndromes are associated with ASD. Novel gene–protein interactions with pathway and molecular function analyses have identified at least three functional pathways including chromatin modeling, Wnt, Notch and other signaling pathways and metabolic disturbances involving neuronal growth and dendritic spine profiles. An estimated 50% of individuals with ASD are diagnosed with chromosome deletions or duplications (e.g., 15q11.2, BP1-BP2, 16p11.2 and 15q13.3), identified syndromes (e.g., Williams, Phelan-McDermid and Shprintzen velocardiofacial) or single gene disorders. Behavioral and psychiatric conditions in autism impacted by genetics influence clinical evaluations, counseling, diagnoses, therapeutic interventions and treatment approaches. Pharmacogenetics testing is now possible to help guide the selection of psychotropic medications to treat challenging behaviors or co-occurring psychiatric conditions commonly seen in ASD. In this review of the autism spectrum disorder, behavioral, psychiatric and genetic observations and associations relevant to the evaluation and treatment of individuals with ASD are discussed.
Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants
Authors: Verbesselt Jente , Solot Cynthia B. , Van Den Heuvel Ellen , Crowley T. Blaine , Giunta Victoria , Breckpot Jeroen , McDonald-McGinn Donna M. , Zink Inge , Swillen Ann
Published: March 2023

Although it is known that copy number variants (CNVs) on chromosome 22, such as 22q11.2 deletion (22q11.2DS) and 22q11.2 duplication (22q11.2Dup) syndromes, are associated with higher risk for neurodevelopmental issues, few studies have examined the language skills across 22q11.2Dup nor compared them with the 22q11.2DS. The current study aims to characterize language abilities in school-aged children with 22q11.2Dup (n = 29), compared to age-matched children with 22q11.2DS (n = 29). Standardized language tests were administered, assessing receptive and expressive language skills across different language domains. Results indicate that children with 22q11.2Dup demonstrate significantly more language problems compared to the general population. Mean language skills were not significantly different among children with 22q11.2 CNVs in this cohort. While children with 22q11.2DS demonstrated language difficulties starting at the word level, the most common language problems in children with 22q11.2Dup started at the sentence level. Importantly, both expressive and receptive language as well as lexico-semantic and morphosyntactic domains were impaired in children with 22q11.2 CNVs. Early identification, therapeutic intervention, and follow-up of language impairments in children with 22q11.2Dup are recommended to support language development and to reduce longitudinal impact of language and communicative deficits.
A Systematic Review of the Geotechnical and Structural Behaviors of Fiber-Reinforced Polymer Composite Piles
Authors: Al-Darraji Fadhil , Sadique Monower , Čebašek Tina Marolt , Ganguli Abhijit , Yu Zelong , Hashim Khalid
Published: March 2023

Composite piles have emerged as a popular alternative to conventional piling materials for deep foundations and have gained significant traction as a specific type of pile due to their potential to mitigate durability issues often associated with standard piling materials. A new type of composite piles can improve structural behavior and extend service life. This research uses an inclusive review methodology to evaluate the geotechnical and structural behaviors of fiber-reinforced polymer (FRP) composite piles. Scopus was utilized to address the relevant keywords and state-of-the-art documents, and VSOviewer software was adopted to spot recurring patterns in the data using scientometric maps. Low-stiffness composite materials are a concern, according to the research work. Thus, researchers are working on confined concrete-filled FRP piles to improve the structural and geotechnical properties used in various load-bearing conditions. However, more research is required to comprehensively understand the behaviors of the studied types of composite piles. Indeed, there is a need for large-scale lab and field studies to determine how axial and lateral loads influence composite piles. This could help create guidelines for constructing the reviewed types of composite piles.
Rehabilitation after Hip Fracture Surgery: A Survey on Italian Physiotherapists’ Knowledge and Adherence to Evidence-Based Practice
Authors: Santacaterina Fabio , Miccinilli Sandra , Sterzi Silvia , Bressi Federica , Bravi Marco
Published: March 2023

The average life expectancy of the Italian population has increased over the last decades, with a consequent increase in the demand for healthcare. Rehabilitation after hip fracture surgery is essential for autonomy, recovery, and reintegration into the social context. The aim of this study was to determine the level of knowledge and adherence to the recent treatment recommendations of the Italian physiotherapists. A web-based survey, composed of 21 items, was conducted and the frequencies and percentages of the responses were analyzed to evaluate if there was an integration and adherence to the recommendations of greater than 70%, with respect to the desired response. A total of 392 responses were collected and analyzed. Recommendations regarding the multidisciplinary approach, early mobilization, and progressive muscle strength training, achieved the desired value in the inpatient setting. Intensive rehabilitation and full weight bearing did not reach the threshold values. The results of this survey show a partial integration of the recommendations for rehabilitation after hip fracture surgery by Italian physiotherapists. Adherence seems to be better in the inpatient setting and with physiotherapists with higher levels of education.
Influence of Binaural Beats Stimulation of Gamma Frequency over Memory Performance and EEG Spectral Density
Authors: Borges Ludymila Ribeiro , Arantes Ana Paula Bittar Britto , Naves Eduardo Lazaro Martins
Published: March 2023

Similar to short-term memory, working memory cannot hold information for a long period of time. Studies have shown that binaural beats (BB) can stimulate the brain through sound, affecting working memory function. Although the literature is not conclusive regarding the effects of BB stimulation (stim) on memory, some studies have shown that gamma-BB stim (40 Hz) can increase attentional focusing and improve visual working memory. To better understand the relationship between BB stim and memory, we collected electroencephalographic data (EEG) from 30 subjects in 3 phases—a baseline, with gamma-BB stim, and control stim—in a rest state, with eyes closed, and while performing memory tasks. Both EEG data and memory task performance were analyzed. The results showed no significant changes in the memory task performance or the EEG data when comparing experimental and control conditions. We concluded that brain entrainment was not achieved with our parameters of gamma-BB stimulation when analyzing EEG power spectral density (PSD) and memory task performance. Hence, we suggest that other aspects of EEG data, such as connectivity and correlations with task performance, should also be analyzed for future studies.
Marker-Assisted Selection of Male-Sterile and Maintainer Line in Chili Improvement by Backcross Breeding
Authors: Na Jinda Aatjima , Nikornpun Maneechat , Jeeatid Nakarin , Thumdee Siwaporn , Thippachote Kamon , Pusadee Tonapha , Kumchai Jutamas
Published: March 2023

Cytoplasmic genic male sterility (CGMS) is a male sterility system that uses the maternal line for hybrid production, ensuring no obscurity of F1 seed purity and reducing the cost of hybrid seed production. Identification of the male sterility gene is important for plant improvement and classification when using the molecular marker-assisted selection (MAS) method. This study aimed to produce a new maternal line (A-line) and its maintainer line (B-line) by transferring a male-sterile line (A-line) and its maintainer line (B-line) gene from another variety to restorer lines (C-line) to achieve future hybrid seed production. In the process, the CGMS line (A-line) and B-line transferred to C1 and C3 lines, which finally resulted in new A-line (BC2F2A1 × C1, BC2F2A1 × C3), and B-line (BC1F2B1 × C1, BC1F2B1 × C3), and then used the MAS method for detecting genes and pollen viability test in the newly improved lines. The results indicated that the 3336-last2-SCAR (1639 bp) and 4162-SCAR (1046 bp) DNA markers classified the Rf locus, and the CMS-SCAR130/140 marker confirmed the S or N cytoplasm. The BC2F2A1 × C1 and BC2F2A1 × C3 lines represented both male-fertile (SRf_) and male-sterile (Srfrf) progenies in a Mendelian ratio of 3:1. Moreover, stained pollen grains with 1% acetocarmine confirmed abnormal pollen in male-sterile plants. The molecular markers that detect maintainer lines (Nrfrf) are BC1F2B1 × C1-14, BC1F2B1 × C3-10, and BC1F2B1 × C3-11. The 3336-last2-SCAR (1639 bp) and CMS-SCAR130/140 markers successfully identified the male-sterile line (Srfrf) and maintainer line (Nrfrf), and 4162-SCAR (1046 bp) detected the presence of the RfRf or Rfrf genotype in chilies at the seedling stage. The use of these markers was highly accurate and confirmed the results at the early generation stage of a conventional breeding program. It can be concluded that the CGMS and maintainer gene in chilies were successfully transferred during early generation using the backcross method.
Increasing Efficiency of Nautical Chart Production and Accessibility to Marine Environment Data through an Open-Science Compilation Workflow
Authors: Kastrisios Christos , Dyer Noel , Nada Tamer , Contarinis Stilianos , Cordero Jose
Published: March 2023

Electronic Navigational Chart (ENC) data are essential for safe maritime navigation and have multiple other uses in a wide range of enterprises. Charts are relied upon to be as accurate and as up-to-date as possible by the vessels moving vast amounts of products to global ports each year. However, cartographic generalization processes for updating and creating ENCs are complex and time-consuming. Increasing the efficiency of the chart production workflow has been long sought by the nautical charting community. Toward this effort, approaches must consider intended scale, data quality, various chart features, and perform consistently in different scenarios. Additionally, supporting open-science initiatives through standardized open-source workflows will increase marine data accessibility for other disciplines. Therefore, this paper reviews, improves, and integrates available open-source software, and develops new custom generalization tools, for the semi-automated processing of land and hydrographic features per nautical charting specifications. The robustness of this approach is demonstrated in two areas of very different geographic configurations and the effectiveness for use in nautical charting was confirmed by winning the first prize in an international competition. The presented rapid data processing combined with the ENC portrayal of results as a web-service provides new opportunities for applications such as the development of base-maps for marine spatial data infrastructures.
Provenance in GIServices: A Semantic Web Approach
Authors: Wu Zhaoyan , Li Hao , Yue Peng
Published: March 2023

Recent developments in Web Service and Semantic Web technologies have shown great promise for the automatic chaining of geographic information services (GIService), which can derive user-specific information and knowledge from large volumes of data in the distributed information infrastructure. In order for users to have an informed understanding of products generated automatically by distributed GIServices, provenance information must be provided to them. This paper describes a three-level conceptual view of provenance: the automatic capture of provenance in the semantic execution engine; the query and inference of provenance. The view adapts well to the three-phase procedure for automatic GIService composition and can increase understanding of the derivation history of geospatial data products. Provenance capture in the semantic execution engine fits well with the Semantic Web environment. Geospatial metadata is tracked during execution to augment provenance. A prototype system is implemented to illustrate the applicability of the approach.
The IMBG Test for Evaluating the Pharmacodynamic Response to Immunosuppressive Therapy in Kidney Transplant Patients: Current Evidence and Future Applications
Authors: Pascual Julio , Crespo Marta , Portoles Jose , Jimenez Carlos , Ortega-Carrion Alvaro , Diez Teresa , Portero Isabel
Published: March 2023

Immunosuppressive drugs are widely used to prevent rejection after kidney transplantation. However, the pharmacological response to a given immunosuppressant can vary markedly between individuals, with some showing poor treatment responses and/or experiencing serious side effects. There is an unmet need for diagnostic tools that allow clinicians to individually tailor immunosuppressive therapy to a patient’s immunological profile. The Immunobiogram (IMBG) is a novel blood-based in vitro diagnostic test that provides a pharmacodynamic readout of the immune response of individual patients to a range of immunosuppressants commonly used in kidney transplant recipients. Here, we discuss the current approaches used to measure the pharmacodynamic responses of individual patients to specific immunosuppressive drugs in vitro, which can then be correlated with patient’s clinical outcomes. We also describe the procedure of the IMBG assay, and summarize the results obtained using the IMBG in different kidney transplant populations. Finally, we outline future directions and other novel applications of the IMBG, both in kidney transplant patients and other autoimmune diseases.
Effects of Aloe-Emodin on the Expression of Brain Aquaporins and Secretion of Neurotrophic Factors in a Rat Model of Post-Stroke Depression
Authors: Liu Yang , Peng Jing , Leng Qinjie , Tian Yang , Wu Xiaoqing , Tan Rui
Published: March 2023

Post-stroke depression (PSD) is a common complication of stroke that can damage patients’ brains. More and more studies have been conducted on PSD in recent years, but the exact mechanism is still not understood. Currently, animal models provide an alternative approach to better understand the pathophysiology of PSD and may also pave the way for the discovery of new treatments for depression. This study investigated the therapeutic effect and mechanism of aloe-emodin (AE) on PSD rats. Previous studies have shown that AE positively affects PSD in rats by improving depression, increasing their activities and curiosities, enhancing the number of neurons, and ameliorating damage to brain tissue. Meanwhile, AE could up-regulate the expression of brain-derived neurotrophic factor (BDNF) and neurotrophic 3 (NTF3), but it could also down-regulate the expression of aquaporins (AQP3, AQP4, and AQP5), glial fibrillary acidic protein (GFAP), and transient receptor potential vanilloid 4 (TRPV4), which is helpful in maintaining homeostasis and alleviating encephaledema. AE may be a prospective solution in the future for the treatment of PSD patients.