bluuebunny/crossref_metadata_2025 huggingface dataset:
A Pilot Study to Assess the Feasibility of Real-Time Teledentistry in Residential Aged Care Facilities
Authors: Fung Cheuk Kee Candy , Ha Diep Hong , Walsh Laurence James , Lopez Silva Claudia Patricia
Published: November 2024

Background/Objectives: Unmet oral health needs of residents in residential aged care facilities (RACFs) arise due to the unique challenges of assessing oral health statuses and maintaining oral healthcare in RACFs. This pilot study assessed the feasibility of using real-time teledentistry under the guidance of a dentist to train RACF staff to undertake an oral health assessment. Methods: An oral health assessment of residents was first conducted by RACF staff at two Queensland, Australia RACFs using the Oral Health Assessment Tool, with an intra-oral camera connected to a laptop, through videoconferencing, under the guidance of a dentist. A survey recorded the views of RACF staff on the acceptability of the teledentistry method. The quality of the images obtained through the camera was assessed by the dentist. Finally, cost-effectiveness was calculated between teledentistry and traditional face-to-face assessments. Results: Sixteen residents (mean age 79.3 ± 8.68 years) and eight staff (mean age 33.3 ± 6.16 years) participated in this study. Both RACF staff and residents found that the real-time teledentistry set-up was user-friendly, while the dentist rated the quality of the images as acceptable for diagnostic purposes. Real-time teledentistry was more cost-effective than bringing a dentist on-site, while taking the RACF residents to an off-site dental office for examination was the most expensive approach. Conclusions: Real-time teledentistry is feasible and cost-effective, and it is an acceptable alternative to a face-to-face clinical exam for oral health assessment in RACFs. This approach could be used in RACFs where wireless internet connectivity is available.
Scan-to-BIM Process and Architectural Conservation: Towards an Effective Tool for the Thematic Mapping of Decay and Alteration Phenomena
Authors: Aricò Manuela , Ferro Claudia , La Guardia Marcello , Lo Brutto Mauro , Taranto Germana , Ventimiglia Gaspare Massimo
Published: November 2024

Ancient monumental complexes need continuous analysis and monitoring operations to preserve a good conservation status. For this reason, the analysis of decay and alteration phenomena represents one of the main activities for their preservation. At the same time, the diffusion of Heritage Building Information Modelling (HBIM) methodology opens new scenarios for the management of Architectural Heritage. The paper describes the workflow based on a Scan-to-BIM approach for the generation of a decay map in an HBIM model. The workflow was applied to a significant case study, the church of “Santa Maria della Grotta” in Marsala (Italy). This church, partially excavated in a sandstone bank, is part of a larger heritage site consisting of a series of hypogea and a Punic necropolis dating back more than a thousand years. The Scan-to-BIM process, relying on an integrated survey combining mobile laser scanning and photogrammetric technologies, enabled the achievement of a complete 3D parametric model of the monument and, altogether, a detailed decay map in a BIM environment. The mapping process focused on the production of thematic maps of perimetral walls according to an abacus of decays implemented in a BIM system, useful for the analysis and conservation of the church. The work demonstrates how the Scan-to-BIM process is an efficient approach for 3D data collection and how it could facilitate the identification and mapping of pathogenic phenomena. Furthermore, the inclusion of this kind of information in the BIM model represents an effective tool for the maintenance and restoration of built heritage.
Foliar Methyl Jasmonate Application Activates Antioxidant Mechanisms to Counteract Water Deficits and Aluminum Stress in Vaccinium corymbosum L.
Authors: Cáceres Cristina , Cazor-Curilef Crystal , Delgado-Santibañez Patricio , Machado Mariana , Delgado Mabel , Ribera-Fonseca Alejandra , Inostroza-Blancheteau Claudio , Bravo Leon A. , González-Villagra Jorge , Nunes-Nesi Adriano , Reyes-Díaz Marjorie
Published: November 2024

Due to climate change, water deficits (WDs) and aluminum (Al) toxicity are increasing, affecting plants, especially crops such as blueberries (Vaccinium corymbosum L.). The application of methyl jasmonate (MeJA) could mitigate these effects. This work aimed to evaluate the effective MeJA dose to overcome oxidative stress provoked by combined WD+Al stress in blueberries. Plants of Al-sensitive (Star) and Al-resistant (Legacy) cultivars were exposed to control (Al at 65 mg/Kg, 80% field capacity), WD+Al (50% field capacity; Al at 1665 mg/Kg), and WD+Al treatment with different foliar MeJA doses (10, 50, and 100 μM) during 7 and 21 days. Data revealed that plants exposed to WD+Al and treated with 50 µM MeJA reduced Al up to 3.2-fold in roots and 2.7-fold in leaves and improved water potential (Ψw) up to 2.5-fold. The sensitive cultivar decreased the relative growth rate under WD+Al, increasing by 1.9-fold with 50 µM MeJA. Under WD+Al stress, all MeJA doses mitigated the decrease in relative water content in Al-resistant cultivars, restoring values like control plants. In the sensitive cultivar, 50 µM MeJA increased photosynthesis (1.5-fold) and stomatal conductance (1.4-fold), without changes in transpiration. Lipid peroxidation decreased (1.2-fold) and increased antioxidant activity (1.8-fold), total phenols (1.6-fold), and superoxide dismutase activity (3.3-fold) under WD+Al and 50 µM-MeJA. It was concluded that the most effective dose to alleviate the WD+Al stress was 50 µM MeJA due to the activation of antioxidants in blueberry plants. Therefore, the MeJA application could be a potential strategy for enhancing the resilience of V. corynbosum exposed to WD+Al stress.
Effect of the Root Endophytic Fungus Piriformospora indica on Strawberry Growth, Fruit Quality and Physiological Traits Under Elevated Electrical Conductivity
Authors: Abdelaziz Mohamed Ewis , Qaryouti Muein , Al-Sahly Saif , Osman Mohamed , Babiker Omer , Felemban Abrar , Alharbi Saif , Alrajhi Abdullah
Published: November 2024

Strawberries are sensitive to abiotic stresses such as salinity, high levels of electrical conductivity, and nutrient imbalances. The mutualistic endophytic fungus Piriformospora indica has significant potential to be used in improving crop production under adverse conditions, with a large host range. However, greenhouse production requires novel tactics to improve the efficiency of saline water irrigation in areas with limited freshwater resources. This study was conducted at the National Research and Development Center for Sustainable Agriculture (Estidamah), KSA, to investigate the impact of P. indica colonization on the growth, photosynthesis traits, productivity, and fruit quality of Fragraria × ananassa Duch cv. Festival strawberry grown in pots and irrigated with two electrical conductivity (EC) nutrient solutions of 1.5 and 3.0 dS/m. The results showed that higher-EC-nutrient solution clearly reduced growth and early yield and improved vitamin C, TSS, and anthocyanin of strawberry in comparison to low-EC-nutrient solution. On the other hand, P. indica colonization significantly increased plant height, shoot fresh weight, root length, and early yield of plants grown under high-EC-nutrient solution with no impact on fruit quality. Obviously, the symbiosis between strawberry roots and P. indica enhanced chlorophyll content, photosynthetic rate, stomatal conductance, and transpiration rate, as well as antioxidant activity such as proline, malondialdehyde, catalase, superoxide dismutase, and peroxidase under higher-EC-nutrient solution. Our study indicated that P. indica might be used as a sustainable tool for strawberry production in arid and semiarid zones, to mitigate the negative impacts of higher-EC-nutrient solution.
Assessing the Origin and Mapping the Extension of Salinity Around Shrimp Culture Ponds in Rio Grande Do Norte (Brazil)
Authors: Beltrão-Sabadía José A. , Casas-Ponsatí Albert , Sabino da Silva Evanimek Bernardo , Sendrós Alex , Tapias Josefina C. , Pinheiro Lima-Filho Francisco
Published: November 2024

The increasing installation of shrimp farms in vulnerable coastal areas around the world generates an environmental impact and makes it urgent to develop methodologies and studies for assessing and scaling the potential risks and sustainability of these activities. One of the main hazards of these activities is that the prolonged inundation of excavated ponds for shrimp farming allows the percolation of saltwater in the surroundings, resulting in increasing groundwater salinity. Saltwater intrusion in coastal aquifers, accompanied by salinization of soils, causes a decrease in available freshwater resources, a decline in crop productivity and the deterioration of the natural ecosystem. The coastal aquifer of Rio Grande do Norte State (Brazil) where, for years, several shrimp farm factories have been operating, reported some issues related to aquifer and soil salinization. The present study aims to assess the origin of and delineate groundwater salinization in a sector of this coastal aquifer using a low-budget procedure. The integration of hydrogeological and hydrogeochemical characterization by drilling shallow piezometers, measuring the hydrostatic level and analyzing the major ion concentrations of the groundwater has made it possible to establish that the origin of groundwater pollution in the studied area is caused by saltwater percolation from shrimp farms. The joint use of both characterization techniques has been shown to have an efficient cost–benefit ratio and less-intrusive methodology, which can be applied in other areas with similar environmental concerns.
Feature Selection and Machine Learning Approaches in Prediction of Current E-Cigarette Use Among U.S. Adults in 2022
Authors: Fang Wei , Liu Ying , Xu Chun , Luo Xingguang , Wang Kesheng
Published: November 2024

Feature selection is essentially the process of picking informative and relevant features from a larger collection of features. Few studies have focused on predictors for current e-cigarette use among U.S. adults using feature selection and machine learning (ML) approaches. This study aimed to perform feature selection and develop ML approaches in prediction of current e-cigarette use using the 2022 Health Information National Trends Survey (HINTS 6). The Boruta algorithm and the least absolute shrinkage and selection operator (LASSO) were used to perform feature selection of 71 variables. The random oversampling example (ROSE) method was utilized to deal with imbalance data. Five ML tools including support vector machines (SVMs), logistic regression (LR), random forest (RF), gradient boosting machine (GBM), and extreme gradient boosting (XGBoost) were applied to develop ML models. The overall prevalence of current e-cigarette use was 4.3%. Using the overlapped 15 variables selected by Boruta and LASSO, the RF algorithm provided the best classifier with an accuracy of 0.992, sensitivity of 0.985, F1 score of 0.991, and AUC of 0.999. Weighted logistic regression further confirmed that age, education level, smoking status, belief in the harm of e-cigarette use, binge drinking, belief in alcohol increasing cancer, and the Patient Health Questionnaire-4 (PHQ4) score were associated with e-cigarette use. This study confirmed the strength of ML techniques in survey data, and the findings will guide inquiry into behaviors and mentalities of substance users.
Genome-Wide Identification of the bHLH Gene Family in Callerya speciosa Reveals Its Potential Role in the Regulation of Isoflavonoid Biosynthesis
Authors: Chen Liuping , Tan Xiaoming , Ming Ruhong , Huang Ding , Tan Yong , Li Liangbo , Huang Rongshao , Yao Shaochang
Published: November 2024

Callerya speciosa (Champ. ex Benth.) Schot is a significant leguminous plant valued for its edible tuberous roots, which are a plentiful source of isoflavonoids. Basic helix–loop–helix (bHLH) transcription factors (TFs) have been reported to regulate secondary metabolism in plants, especially flavonoid biosynthesis. However, the bHLH genes in C. speciosa have not yet been reported, and their regulatory role in isoflavonoid biosynthesis remains unexplored. Here, 146 CsbHLH genes were identified in the C. speciosa genome, classifying them into 23 subfamilies based on the gene structures and phylogenetic relationships. All the CsbHLH proteins contained both motifs 1 and 2, whereas motif 8 was only distributed in subgroup III (d + e). Collinearity analysis demonstrated that fragmental replications are the primary driver of CsbHLH evolution, with the majority of duplicated CsbHLH gene pairs experiencing selective pressure. Nine candidate CsbHLH genes were found to play a potential role in regulating isoflavonoid biosynthesis through a combination of gene-to-metabolite correlation analysis and weighted gene co-expression network analysis (WGCNA). Additionally, the cis-regulatory elements and response to MeJA of these nine genes were characterized and confirmed through quantitative real-time PCR (qRT-PCR) analysis. Among them, three CsbHLHs (CsbHLH9, CsbHLH89, and CsbHLH95) were selected for further investigation. Yeast two-hybrid (Y2H), dual-luciferase (LUC) assays, bimolecular fluorescence complementation (BiFC) assays, and transient transformation demonstrated that CsbHLH9 acted as a transcriptional activator through its interaction with CsMYB36 and binding to the promoters of isoflavonoid biosynthesis genes in a MeJA-induced manner, such as CsIFR2, CsI3′H2, and CsCHS4, to promote isoflavonoid (calycosin, calycosin-7-o-glucoside, and formononetin) accumulation. Our results establish a basis for the functional analysis of bHLH genes and investigations into the molecular mechanisms underlying isoflavonoid biosynthesis in C. speciosa.
Overview on Current Selectable Marker Systems and Novel Marker Free Approaches in Fruit Tree Genetic Engineering
Authors: Súnico Victoria , Piunti Irene , Bhattacharjee Mamta , Mezzetti Bruno , Caballero José L. , Muñoz-Blanco Juan , Ricci Angela , Sabbadini Silvia
Published: November 2024

Selectable marker genes are useful for recognizing which cells have integrated specific sequences in their genome after genetic transformation processes. They are especially important for fruit trees genetic transformation to individuate putatively genetically modified events, because most of the protocols used to genetic engineer these species are often unsuccessful or with low efficiency. Traditional selectable marker genes, mainly of bacterial origin, confer antibiotics/herbicides-resistance or metabolic advantages to transformed cells. Genes that allow the visual recognition of engineered tissues without using any selective agent, such as morphogenic regulators and reporter genes, are also used as selection tools to in vitro identify genetically modified regenerated lines. As final step, genetic engineered plants should be tested in field conditions, where selectable marker genes are no longer necessary, and strongly unpopular especially for the commercial development of the new products. Thus, different approaches, mainly based on the use of site-specific recombinases and/or editing nucleases, are being now used to recover marker-free fruit crops. This review describes and comments the most used and suitable selection tools of interest, particularly for fruit tree genetic engineering. Lastly, a spotlight highlights the biosafety aspects related to the use of selectable marker genes exploited for fruit species genetic engineering.
Novel Gene Biomarkers Specific to Human Mesenchymal Stem Cells Isolated from Bone Marrow
Authors: Muntión Sandra , Sánchez-Luis Elena , Díez-Campelo María , Blanco Juan F. , Sánchez-Guijo Fermín , De Las Rivas Javier
Published: November 2024

In this paper, we present a comparative analysis of the transcriptomic profile of three different human cell types: hematopoietic stem cells (HSCs), bone marrow-derived mesenchymal stem cells (MSCs) and fibroblasts (FIBs). The work aims to identify unique genes that are differentially expressed as specific markers of bone marrow-derived MSCs, and to achieve this undertakes a detailed analysis of three independent datasets that include quantification of the global gene expression profiles of three primary cell types: HSCs, MSCs and FIBs. A robust bioinformatics method, called GlobalTest, is used to assess the specific association between one or more genes expressed in a sample and the outcome variable, that is, the ‘cell type’ provided as a single univariate response. This outcome variable is predicted for each sample tested, based on the expression profile of the specific genes that are used as input to the test. The precision of the tests is calculated along with the statistical sensitivity and specificity for each gene in each dataset, yielding four genes that mark MSCs with high accuracy. Among these, the best performer is the protein-coding gene Transgelin (TAGLN, Gene ID: 6876) (with a Positive Predictive Value > 0.96 and FDR < 0.001), which identifies MSCs better than any of the currently used standard markers: ENG (CD105), THY1 (CD90) or NT5E (CD73). The results are validated by RT-qPCR, providing novel gene biomarkers specific for human MSCs.
Discovery of RNA Biomarkers for Prostate Cancer Using Cross-Platform Transcriptomics
Authors: Visser Wieke C. H. , de Jong Hans , Smit Frank P. , Shrivastava Jolly , Poole Jason C. , Leenders William P. J. , Melchers Willem J. G. , Mulders Peter F. A. , Schalken Jack A.
Published: November 2024

Microarray and Single-Molecule Molecular Inversion Probe (smMIP)-based targeted RNA sequencing are two RNA profiling platforms for identifying disease-associated biomarkers. The microarray uses a GeneChip array with oligonucleotide probes to measure expression levels across thousands of genes, while smMIPs capture and quantify RNA transcripts and transcript variants via next-generation sequencing. To evaluate the strengths and weaknesses of both platforms, a comparative gene expression profiling study was conducted using RNA samples from 52 prostate tissues (normal, benign prostatic hyperplasia (BPH) and various prostate cancer (PCa) grades). Of all genes covered by both platforms, only 35% of the expression levels aligned, with 45% showing discrepancies. Both platforms identified the same 17 genes as potential PCa biomarkers. Microarray analysis identified an additional 253 genes that were not covered or not identified by smMIP technology, while smMIP technology identified eight markers not covered or not identified in the microarray core gene analysis, including fusion genes and splice variants. For high-grade prostate cancer (HG-PCa), the smMIP-method identified 8 markers, and the microarray identified 17 markers, with FOLH1, FAP and CLDN3 being common across both platforms. The choice of RNA expression analysis technology depends on research objectives; microarray technology is useful for the evaluation of a wide range of genes but has low throughput. In contrast, smMIP-based RNA sequencing enables sensitive analysis with minimal RNA in a medium- to high-throughput setting.
Endocannabinoid System and Metabolism: The Influences of Sex
Authors: Forner-Piquer Isabel , Giommi Christian , Sella Fiorenza , Lombó Marta , Montik Nina , Dalla Valle Luisa , Carnevali Oliana
Published: November 2024

The endocannabinoid system (ECS) is a lipid signaling system involved in numerous physiological processes, such as endocrine homeostasis, appetite control, energy balance, and metabolism. The ECS comprises endocannabinoids, their cognate receptors, and the enzymatic machinery that tightly regulates their levels within tissues. This system has been identified in various organs, including the brain and liver, in multiple mammalian and non-mammalian species. However, information regarding the sex-specific regulation of the ECS remains limited, even though increasing evidence suggests that interactions between sex steroid hormones and the ECS may ultimately modulate hepatic metabolism and energy homeostasis. Within this framework, we will review the sexual dimorphism of the ECS in various animal models, providing evidence of the crosstalk between endocannabinoids and sex hormones via different metabolic pathways. Additionally, we will underscore the importance of understanding how endocrine-disrupting chemicals and exogenous cannabinoids influence ECS-dependent metabolic pathways in a sex-specific manner.
Modification of B-Nor Steroids Mediated by Filamentous Fungus Fusarium culmorum: Focus on 15α-Hydroxylase Activity
Authors: Świzdor Alina , Janeczko Tomasz , Panek Anna
Published: November 2024

The metabolic activities of microorganisms to modify the chemical structures of organic compounds are an effective tool for the production of high-value steroidal drugs or active pharmaceutical ingredients (APIs). The integration of biotransformation into the synthesis of APIs can greatly reduce the number of reaction steps and achieve higher process efficiency, thus enabling their greener production. The current research efforts are focused on either the optimization of existing processes or identification of new potentially useful bioconversions. This study aimed to assess the catalytic abilities of the filamentous fungus Fusarium culmorum AM 282 to transform B-nor analogues (5(6→7)abeo compounds) of steroid hormones: androstenedione (AD), dehydroepiandrosterone (DHEA) and its acetate. Our previous studies have demonstrated that this strain is an active hydroxylating catalyst for many steroidal compounds with diverse structures. The results presented in this work showed that the hydroxylation of B-nor steroids occurred with the regio- and stereoselectivity typical of this strain in relation to the corresponding natural hormones of the standard 6:6 A/B series. After the transformations of B-nor-DHEA and its acetate, 15α-hydroxy-B-nor-DHEA was obtained as the sole product of the reaction, while the transformation of the AD analogue resulted in a mixture of its 15α- and 6α-hydroxy derivatives. A detailed analysis of the transformation course indicated that all the obtained hydroxy derivatives could be the result of the activity of the same enzyme. The presented results may provide a basis for research aimed at understanding the molecular nature of cytochrome P-450 monooxygenase from F. culmorum AM 282 with its ability for 15α-hydroxylation of steroidal compounds. An analysis of the pharmacokinetic and pharmacodynamic properties of the obtained metabolites with cheminformatics tools suggests their potential biological activity.
Morphological Evidence for a Unique Neuromuscular Functional Unit of the Human Vocalis Muscle
Authors: Tracicaru Rareș-Vasile , Bräuer Lars , Döllinger Michael , Schicht Martin , Tillmann Bernhard , Hînganu Delia , Hristian Liliana , Hînganu Marius Valeriu , Paulsen Friedrich
Published: November 2024

Human vocalization is a complex process that is still only partially understood. Previous studies have suggested the possibility of a localized neuromuscular network of the larynx. Here we investigate this structure in human dissection specimens using multiple immunofluorescence and transmission electron microscopy (TEM). In the area of the pars interna of the thyroarytenoid muscle, muscle fibers are present that are clearly differentiated from skeletal or cardiac muscle cells and show an intermediate ultrastructure. In addition, intramuscular neurons are present that are detectable by both electron and fluorescence microscopy and may have a sensory function in a local neuronal network. Also, several types of sensory and motor synapses are detectable and distributed throughout the pars interna of the thyroarytenoid muscle, with multisynaptic muscle fibers being a common feature. These findings suggest the existence of a previously unrecognized type of muscle fiber coupled to an intramuscular neuronal network, the presence of which could explain functional peculiarities at the laryngeal level.
Supramolecular Structure of Sulfonamide-Substituted Silatranes: Quantum Chemical DFT Calculations
Authors: Chipanina Nina N. , Adamovich Sergey N. , Nalibayeva Arailym M. , Abdikalykov Yerlan N. , Oznobikhina Larisa P. , Oborina Elizaveta N. , Rozentsveig Igor B.
Published: November 2024

The supramolecular structure of the crystal products–N-[2-chloro-2-(silatranyl)ethyl]-4-nitro-benzenesulfonamide 4d and N-chloro-N-[2-chloro-1-(silatran-1-yl-methyl)ethyl]benzene-sulfonamide 5a was established by X-ray diffraction analysis data, FTIR spectroscopy and DFT quantum chemical calculations. Their crystal lattice is formed by cyclic dimers with intermolecular hydrogen NH∙∙∙O-Si bonds and CH∙∙∙O=S short contacts. The distribution of electron density in the monomers was determined using quantum chemical calculations of their molecular electrostatic potential (MESP) in an isolated state (in gas) and in a polar medium. The transition from covalent N–Si bonds in crystal compounds and polar medium to non-covalent N∙∙∙Si bonds happened while performing the calculations on the monomer molecules and their dimers in gas. The effect of intermolecular interactions on the strength of the N–Si and N∙∙∙Si bonds in molecules was evaluated through calculations of their complexes with H2O and DMSO.
Dynamic Changes in Lymphocyte Populations and Their Relationship with Disease Severity and Outcome in COVID-19
Authors: Andrejkovits Ákos Vince , Huțanu Adina , Manu Doina Ramona , Dobreanu Minodora , Văsieșiu Anca Meda
Published: November 2024

Studies suggest that the dynamic changes in cellular response might correlate with disease severity and outcomes in SARS-CoV-2 patients. The study aimed to investigate the dynamic changes of lymphocyte subsets in patients with COVID-19. In this regard, 53 patients with COVID-19 were prospectively included, classified as mild, moderate, and severe. The peripheral lymphocyte profiles (LyT, LyB, and NK cells), as well as CD4+/CD8+, CD3+/CD19+, CD3+/NK and CD19+/NK ratios, and their dynamic changes during hospitalization and correlation with disease severity and outcome were assessed. We found significant differences in CD3+ lymphocytes between severity groups (p < 0.0001), with significantly decreased CD3+CD4+ and CD3+CD8+ in patients with severe disease (p < 0.0001 and p = 0.048, respectively). Lower CD3+/CD19+ and CD3+/NK ratios among patients with severe disease (p = 0.019 and p = 0.010, respectively) were found. The dynamic changes of lymphocyte subsets showed a significant reduction in NK cells (%) and a significant increase in CD3+CD4+ and CD3+CD8+ cells in patients with moderate and severe disease. The ROC analysis on the relationship between CD3+ cells and fatal outcome yielded an AUC of 0.723 (95% CI 0.583–0.837; p = 0.007), while after addition of age and SpO2, ferritin and NLR, the AUC significantly improved to 0.927 (95%CI 0.811–0.983), p < 0.001 with a sensitivity of 90.9% (95% CI 58.7–99.8%) and specificity of 85.7% (95% CI 69.7–95.2%). The absolute number of CD3+ lymphocytes might independently predict fatal outcomes in COVID-19 patients and T-lymphocyte subset evaluation in high-risk patients might be useful in estimating disease progression.
Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene
Authors: Jepsen Wayne M. , Fazenbaker Andrew , Ramsey Keri , Bonfitto Anna , Naymik Marcus , Turner Bryce , Sloan Jennifer , Tiwari Nishant , Bernes Saunder M. , Neilson Derek E. , Sanchez-Castillo Meredith , Huentelman Matt J. , Narayanan Vinodh
Published: November 2024

Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by the absence of a fully functional dystrophin protein in myocytes. In skeletal muscle, the lack of dystrophin ultimately results in muscle wasting and the replacement of myocytes with fatty or fibrous tissues. In the heart, cardiomyocytes eventually fail and cause fatal cardiomyopathy. We present a case of a male patient and his younger brother with a maternally inherited inverted insertion of approximately 306 kb of chromosome 10 in the deep intronic region between exons 44 and 45 of the DMD gene, leading to Duchenne muscular dystrophy. Chromosomal microarray, comprehensive muscular dystrophy genetic testing, and whole exome sequencing were negative. Targeted transcriptome RNA sequencing at an external lab showed no aberrant splicing. Research whole genome sequencing identified the copy number gain and insertion. Subsequent reanalysis of the RNA sequencing data showed possible aberrant splicing involving DMD exons 44–45, and research RNA sequencing revealed a fusion between the DMD gene on the minus strand of chromosome X and the PFKFB3 gene on the plus strand of chromosome 10. We demonstrate that whole genome sequencing can be valuable for identifying intronic events in the DMD gene previously undetected or not reported by traditional clinical testing.
Molecular Impact of Sublethal Spinetoram Exposure on Honeybee (Apis mellifera) Larval and Adult Transcriptomes
Authors: Vasamsetti Bala Murali Krishna , Kim Juyeong , Chon Kyongmi , Kim Bo-Seon , Yoon Chang-Young , Hwang Sojeong , Park Kyeong-Hun
Published: November 2024

Pesticide toxicity is a global concern for honeybee populations, and understanding these effects at the molecular level is critical. This study analyzed the transcriptome of honeybees at larval and adult stages after chronic exposure to a sublethal dose (0.0017 µg a.i./larva) of spinetoram (SPI) during the larval phase. Four groups were used: acetone-treated honeybee larvae (ATL), acetone-treated honeybee adults (ATAs), SPI-treated honeybee larvae (STL), and SPI-treated honeybee adults (STAs). In total, 5719 differentially expressed genes (DEGs) were identified for ATL vs. ATAs, 5754 for STL vs. STAs, 273 for ATL vs. STL, and 203 for ATAs vs. STAs (FC ≤ 1.5, p < 0.05). In response to SPI, 29 unique DEGs were identified in larvae and 42 in adults, with 23 overlapping between comparisons, suggesting genes linked to SPI toxicity. Gene ontology analysis showed that SPI affected metabolism-related genes in larvae and lipid-transport-associated genes in adults. KEGG pathway analysis revealed an enrichment of pathways predominantly associated with metabolism, hormone biosynthesis, and motor proteins in STL. The transcriptomic data were validated by qPCR. These findings demonstrated that SPI disrupts essential molecular processes, potentially harming honeybee development and behavior, underscoring the need for safer agricultural practices.
Comparative Analyses of the Complete Mitogenomes of Two Oxyria Species (Polygonaceae) Provide Insights into Understanding the Mitogenome Evolution Within the Family
Authors: Li Lijuan , Jiang Zhuo , Xiong Ye , Akogwu Caleb Onoja , Tolulope Olutayo Mary , Zhou Hao , Sun Yanxia , Wang Hengchang , Zhang Huajie
Published: November 2024

Oxyria (Polygonaceae) is a small genus only comprising two species, Oxyria digyna and O. sinensis. Both species have well-documented usage in Chinese herbal medicine. We sequenced and assembled the complete mitogenomes of these two species and conducted a comparative analysis of the mitogenomes within Polygonaceae. Both O. digyna and O. sinensis displayed distinctive multi-branched conformations, consisting of one linear and one circular molecule. These two species shared similar gene compositions and exhibited distinct codon preferences, with mononucleotides as the most abundant type of simple sequence repeats. In the mitogenome of O. sinensis, a pair of long forward repeat sequences can mediate the division of molecule 1 into two sub-genomic circular molecules. Homologous sequence analysis revealed the occurrence of gene transfer between the chloroplast and mitochondrial genomes within Oxyria species. Additionally, a substantial number of homologous collinear blocks with varied arrangements were observed across different Polygonaceae species. Phylogenetic analysis suggested that mitogenome genes can serve as reliable markers for constructing phylogenetic relationships within Polygonaceae. Comparative analysis of eight species revealed Polygonaceae mitogenomes exhibited variability in gene presence, and most protein-coding genes (PCGs) have undergone negative selection. Overall, our study provided a comprehensive overview of the structural, functional, and evolutionary characteristics of the Polygonaceae mitogenomes.
Genome-Wide and Transcriptome Analysis of Autophagy-Related ATG Gene Family and Their Response to Low-Nitrogen Stress in Sugar Beet
Authors: Jia Rongli , Zhou Ruxin , Chang Yue , Wei Lei , Yi Liuxi , Ma Binjie , Shi Shude
Published: November 2024

Sugar beet (Beta vulgaris L.) is a significant global crop for sugar production, with nitrogen playing a crucial role in its growth, development, and sugar yield. Autophagy facilitates nutrient reabsorption and recycling under nutrient stress by degrading intracellular components, thereby enhancing plant nitrogen use efficiency. However, research on the autophagy response to low-nitrogen stress in sugar beet remains limited. In this study, 29 members of the ATG gene family were identified, with genes within the same subfamily displaying similar gene structures and conserved domains. These ATG genes in sugar beet contain various hormone and stress-response elements. Transcriptome data and qRT-PCR analysis further revealed that the expression levels of ATG4, ATG8b, ATG18a, TOR, NBR1, ATI, ATG8a, ATG12, and VTI12a were significantly upregulated under low-nitrogen stress, with most genes showing high expression levels across different tissues. These ATG genes are thus likely involved in regulating autophagy in response to low-nitrogen conditions. The observed increase in autophagosome numbers further supports the induction of autophagy by low-nitrogen stress. These nine genes can be considered key candidates for further research on nitrogen-sensitive autophagy in the sugar beet ATG gene family. This study provides a comprehensive analysis of the structure and biological functions of ATG genes in sugar beet, offering genetic resources for future efforts to improve sugar beet varieties through genetic engineering. Such efforts could focus on regulating autophagy to enhance nitrogen use efficiency and develop new germplasm.
NEDD4L Suppresses Proliferation and Promotes Apoptosis by Ubiquitinating RAC2 Expression and Acts as a Prognostic Biomarker in Clear Cell Renal Cell Carcinoma
Authors: Qi Manlong , Tu Jianqiao , He Rong , Fei Xiang , Zhao Yanyan
Published: November 2024

Neural precursor cell expressed developmentally down-regulated 4-like (NEDD4L) is an HECT (homologous to E6AP C terminus)-type E3 ubiquitin ligase. As previously documented, bioinformatics analysis revealed NEDD4L is downregulated in clear cell renal cell carcinoma (ccRCC). However, the target substrate regulated by NEDD4L in ccRCC remains unknown. Here, we assessed whether NEDD4L regulates Ras-related C3 botulinum toxin substrate 2 (RAC2) expression in ccRCC. In our study, integrated bioinformatics analysis indicated that low expression of NEDD4L and high expression of RAC2 were both associated with poor prognosis of ccRCC, pro-tumorigenic immunity, and multiple tumor-associated pathways. Our data confirmed the hypothesis indicated in the previous studies related to the downregulation of NEDD4L in ccRCC. NEDD4L was identified to target the RAC2 threonine 108–proline motif, and RAC2 overexpression rescued NEDD4L-mediated cell apoptosis and inhibition of cell growth and migration. Therefore, RAC2 is a novel and first identified target of NEDD4L in ccRCC, and the aberrant less expression of NEDD4L and consequent RAC2 upregulation may contribute to renal carcinogenesis. Our study offers insight into NEDD4L as a potential future therapeutic target for renal cell carcinoma or as a novel prognostic biomarker.
Troponin Test, Not Only a Number: An Unusual Case of False Positive
Authors: Salvatici Michela , Gaimarri Monica , Rispoli Francesca , Bianchi Barbara , Sansico Delia Francesca , Matteucci Eleonora , Antonelli Andrea , Bandera Francesco , Drago Lorenzo
Published: November 2024

Heterophile antibodies, which can arise from infections, autoimmune disorders, or exposure to animal antigens, can interfere with immunoassays. These antibodies can cross-react with the test reagents used in troponin assays, causing a false elevation in troponin levels. The paper describes a case of a 37-year-old male drug abuser admitted to the emergency room with chest pain. A series of troponin measurements performed using different assays gave discrepant results. Only thanks to the use of Scantibodies HBT tubes, which remove heterophile antibodies, was it possible to make a correct diagnosis of troponin negativity. In conclusion, a correct laboratory/clinical approach to the identification of heterophile antibody interference is essential for accurate troponin testing in order to avoid false positive results. Implementing neutralizing tests can significantly improve the reliability of these diagnostic assays, ensuring better patient outcome.
Exploring the Features and Trends of Industrial Product E-Commerce in China Using Text-Mining Approaches
Authors: Sun Zhaoyang , Zong Qi , Mao Yuxin , Wu Gongxing
Published: November 2024

Industrial product e-commerce refers to the specific application of the e-commerce concept in industrial product transactions. It enables industrial enterprises to conduct transactions via Internet platforms and reduce circulation and operating costs. Industrial literature, such as policies, reports, and standards related to industrial product e-commerce, contains much crucial information. Through a systematical analysis of this information, we can explore and comprehend the development characteristics and trends of industrial product e-commerce. To this end, 18 policy documents, 10 industrial reports, and five standards are analyzed by employing text-mining methods. Firstly, natural language processing (NLP) technology is utilized to pre-process the text data related to industrial product commerce. Then, word frequency statistics and TF-IDF keyword extraction are performed, and the word frequency statistics are visually represented. Subsequently, the feature set is obtained by combining these processes with the manual screening method. The original text corpus is used as the training set by employing the skip-gram model in Word2Vec, and the feature words are transformed into word vectors in the multi-dimensional space. The K-means algorithm is used to cluster the feature words into groups. The latent Dirichlet allocation (LDA) method is then utilized to further group and discover the features. The text-mining results provide evidence for the development characteristics and trends of industrial product e-commerce in China.
Strategies to Improve Environmental Comfort of Institutionalized Older Adults: A Scoping Review
Authors: Lobão Catarina , Coelho Adriana , Gil Gutiérrez Rocío , Marçal Inês , Antunes Madalena , Parola Vítor
Published: November 2024

The demographic trends of an aging global population present significant challenges and opportunities for healthcare, particularly in providing optimal care environments for older adults living in long-term care facilities, with it being imperative to ensure these environments provide basic care and promote overall well-being through enhanced environmental comfort. This scoping review intends to show evidence-based practices enhancing the environmental comfort of institutionalized older people. Following the Joanna Briggs Institute’s methodology, this scoping review’s inclusion criteria included studies in English, Portuguese, or Spanish between 2013 and 2023, focused on institutionalized people over the age of 65 years residing in long-term care settings where nurses implemented strategies or interventions designed to enhance environmental comfort in which older residents themselves directly evaluated, indexed in Medline, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Scopus, Psychology and Behavioral Sciences Collection, DART-Europe, or Repositório Científico de Acesso Aberto de Portugal (RCAAP). Out of 497 initially retrieved studies, none of them met the established criteria, leading this study to be an empty review. The absence of studies meeting the inclusion criteria indicates a significant gap in the existing literature, highlighting the need for specialized training programs that equip nurses with the skills and knowledge to implement effective comfort-enhancing interventions, ensuring that the unique and challenging needs of older people are covered.
Spontaneous Ischemic Cholecystitis in a Patient with Hereditary Hemorrhagic Telangiectasia (HHT)
Authors: L’Huillier Romain , Garnaud Alexandre , Monneuse Olivier
Published: November 2024

Background/Objectives: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal blood vessel formation, leading to recurrent epistaxis, cutaneous and mucosal telangiectases, and visceral arteriovenous malformations (AVMs). Hepatic involvement may result in complications such as high-output heart failure, portal hypertension, and biliary ischemia. We report an uncommon case of ischemic cholecystitis in a patient with HHT. Methods: A 57-year-old male with HHT type 1, including gastric telangiectases and hepatic AVMs, presented with anemia, melena, epigastric pain, and a history of recurrent epistaxis. Imaging revealed gastric telangiectases and liver AVMs, consistent with HHT. Following an episode of severe epistaxis and aspiration pneumonia, the patient developed right upper quadrant pain. Results: Abdominal CT and ultrasound identified thickening of the gallbladder wall, segmental enhancement defects, and a perivesicular fluid effusion, suggestive of acalculous cholecystitis. A laparoscopic cholecystectomy was performed, revealing ischemic cholecystitis with necrotic gallbladder walls. Conclusions: This case underscores the potential for ischemic cholecystitis in patients with HHT and liver involvement, particularly under conditions of acute hemodynamic instability. Clinicians should be vigilant in recognizing this rare complication, especially in patients with established HHT and associated hepatic vascular anomalies.
Efficacy of Sutureless Scleral Fixation of One-Piece T-Shaped Haptic Intraocular Lens in Maintaining Anterior Chamber Stability During Descemet Membrane Endothelial Keratoplasty in Vitrectomized Eyes: Leak Test and Iris Diaphragm Reconstruction
Authors: Vaiano Agostino Salvatore , Greco Antonio , Marenco Maria , Greco Andrea , De Filippis Alessandro , Garavelli Fabio , Merli Riccardo , Romano Vito
Published: November 2024

Objectives: This study aimed to describe the outcomes of a staged procedure combining Descemet membrane endothelial keratoplasty (DMEK) and sutureless scleral fixation (SSF) of a one-piece intraocular lens (IOL) in a case series. Co-performing endothelial keratoplasty (EK) and SSF is associated with intraoperative and postoperative complications such as graft deployment difficulties, air migration, graft detachment, and IOL opacification or tilt, all of which are evaluated in this study. Methods: This is a retrospective observational case series. Clinical data were collected from eight eyes of eight patients who underwent DMEK for endothelial failure and had previously received an SSF with one-piece IOL following complete vitrectomy. During DMEK surgery, an air leak test was conducted to check for air migration into the posterior chamber. If instability was detected, pupilloplasty was performed. Intraoperative and postoperative data, including DMEK graft unfolding time, were collected. Corrected Distance Visual Acuity (CDVA), refraction, endothelial cell density (ECD), central corneal thickness (CCT), intraocular pressure (IOP), and complications were recorded over a 12-month follow-up period. Results: We performed pupilloplasty in four patients (50%). The median CDVA improved from preoperative 0.85 logMAR (range: 0.60 to 1.00) at baseline to 0.18 logMAR (range: 0.10 to 0.70, p = 0.012) at 12 months. The median refraction value changed significantly from −1.00 to −0.50 at 12 months. The median percentage reduction in ECD after 12 months was 33.4% (range 30 to 40). The median baseline CCT was 689 μm (range: 651 to 701) at baseline visit and 541.5 μm (range: 525 to 591, p = 0.008) at 12 months. The median IOP was reduced significantly during follow-up. The median graft unfolding time was 6 min (5 to 9). One patient required rebubbling for partial detachment on postoperative day one. No complications occurred within 12 months. Conclusions: The effective compartmentalization of the anterior and posterior chambers in vitrectomized eyes with an SSF one-piece IOL and pupilloplasty can facilitate critical steps of DMEK surgery in complex eyes. Additionally, the air leak test could prove useful in identifying the need for iris-lens diaphragm reconstruction.
Gender Incongruence in Danish Youth (GenDa): A Protocol for a Retrospective Cohort Study of Danish Children and Adolescents Referred to a National Gender Identity Service
Authors: Ravnborg Nanna , Aslam Mohsin , Norup Pernille Badsberg , Tingsgård Jonas Vrublovsky , Pagsberg Anne Katrine , Haahr Mette Ewers , Main Katharina M. , Giraldi Annamaria
Published: November 2024

Background/Objectives In recent years, the national Gender Identity Service for individuals under 18 years of age in Denmark has seen a considerable increase in referrals of youngsters during puberty. Given this development, it is important to deepen our understanding of the characteristics of contemporary youngsters seeking help for gender incongruence. This understanding can serve as the foundation for improving current treatment regimens by ensuring optimal individual assessment and care. In this study, we aim to describe the sociodemographic characteristics, health profiles, and treatment trajectories in detail, as well as any changes in these characteristics, of all transgender and gender-diverse youngsters referred to the Gender Identity Service in Denmark from 2016 through 2022. Methods: This is a retrospective observational study of a national cohort comprising all individuals under 18 years of age referred to the Danish Gender Identity Service from 1 January 2016 to 1 January 2023. We will use data from medical records obtained at routine visits from the first assessment through repeated visits. Data on demographics, physical and mental health profiles, and information regarding gender identity will be collected and analyzed. The characteristics of those individuals who progressed to hormone therapy will be compared to those who did not. Results: This study aims to enhance our understanding of the characteristics and needs of contemporary youngsters with gender identity issues. Conclusions: The scientific evidence for the assessment and treatment of gender incongruence in youngsters is limited. The characteristics of youngsters seeking healthcare for gender incongruence today may differ from earlier.