bluuebunny/crossref_metadata_2025 huggingface dataset:
Development of a Wine Yeast Strain Capable of Malolactic Fermentation and Reducing the Ethyl Carbamate Content in Wine
Authors: Vasyagin Egor A. , Urakov Valery N. , Shalamitskiy Maksim Yu. , Cherviak Sofia N. , Ivanova Elena V. , Zagoruyko Valentina I. , Beletsky Alexey V. , Rakitin Andrey L. , Mardanova Eugenia S. , Kushnirov Vitaly V. , Ravin Nikolai V. , Mardanov Andrey V.
Published: December 2024

In winemaking, malolactic fermentation (MLF), which converts L-malic acid to L-lactic acid, is often applied after the alcoholic fermentation stage to improve the sensory properties of the wine and its microbiological stability. MLF is usually performed by lactic acid bacteria, which, however, are sensitive to the conditions of alcoholic fermentation. Therefore, the development of wine yeast strains capable of both alcoholic fermentation and MLF is an important task. Using genome editing, we engineered a modified variant of the triploid wine yeast strain Saccharomyces cerevisiae I-328, in which the CAR1 arginase gene was replaced by the malate permease gene from Schizosaccharomyces pombe and the malolactic enzyme gene from Oenococcus oeni. Genome-wide transcriptional profiling confirmed the expression of the introduced genes and revealed a limited effect of the modification on global gene expression. Winemaking experiments show that genome editing did not affect fermentation activity and ethanol production, while use of the modified strain resulted in a tenfold reduction in malate content with simultaneous formation of lactate. The resulting wines had a softer and more harmonious taste compared to wine obtained using the parental strain. Inactivation of arginase, which forms urea and L-ornithine through the breakdown of arginine, also resulted in a twofold decrease in the content of urea and the carcinogenic ethyl carbamate in wine. Thus, the new strain with the replacement of the arginase gene with the MLF gene cassette is promising for use in winemaking.
Effects of Hot Air, Vacuum, and Conductive Drying on the Fatty Acid Profile of Cucurbita maxima Pulp and Its Processing By-Products
Authors: Ninčević Grassino Antonela , Karlović Sven , Dujmić Filip , Rimac Brnčić Suzana , Badanjak Sabolović Marija , Brnčić Mladen
Published: December 2024

Considering the short shelf life of fresh pumpkin due to its high water content and the extensive use of dried pumpkin in the food industry, it is necessary to find an efficient drying method that minimizes water activity and preserves nutritional properties. In this study, the effects of hot air drying (HAD), vacuum drying (VAD), and conductive drying (CD) at 50, 60, and 70 °C on fatty acid profiles were investigated to determine optimal drying conditions that preserve fatty acid (FA) quality and associated nutritional benefits. Results showed that drying methods had a significant effect (p < 0.05) on fatty acid composition and yield, resulting in different amounts of palmitic, oleic, linoleic, and linolenic acids as major FAs compared to fresh pulp. The saturated FA content was higher in CD pulp (up to 42.37%), followed by HAD and VAD. Oleic acid, as the most important representative of monounsaturated FAs, came from VAD (up to 30.64%). Linoleic and linolenic acid, as the most important polyunsaturated FAs of the omega-6 and omega-3 fatty acids, were found in higher proportions in CD pulp at 50 and 60 °C (up to 31.12%) and HAD pulp at 60 and 70 °C with an airflow velocity of 1.5 m/s (up to 39.70%). In addition, the peel and seeds, the by-products resulting from the processing of the fruit pulp, were also evaluated with regard to the fatty acid profile. Two fractions also contained the four major FAs in representative amounts, indicating their valuable reuse.
New Solitary Wave Solutions of the Lakshamanan–Porsezian–Daniel Model with the Application of the Φ6 Method in Fractional Sense
Authors: Saber Hicham , Albala Hussien , Aldwoah Khaled , Alsulami Amer , Mohamed Khidir Shaib , Hassan Mohammed , Moumen Abdelkader
Published: December 2024

This paper explores a significant fractional model, which is the fractional Lakshamanan–Porsezian–Daniel (FLPD) model, widely used in various fields like nonlinear optics and plasma physics. An advanced analytical solution for it is attained by the Φ6 technique. According to this methodology, effective and accurate solutions for wave structures within various types can be produced in the FLPD model framework. Solutions such as dark, bright, singular, periodic, and plane waves are studied in detail to identify their stability and behavior. Validations are also brought forward to assess the precision and flexibility of the Φ6 technique in modeling fractional models. Therefore, it is established in this study that the Φ6 technique represents a powerful tool for examining wave patterns in differential fractional order models.
The Use of Artificial Intelligence in Data Analysis with Error Recognitions in Liver Transplantation in HIV-AIDS Patients Using Modified ABC Fractional Order Operators
Authors: Khan Hasib , Alzabut Jehad , Almutairi D. K. , Alqurashi Wafa Khalaf
Published: December 2024

In this article, we focused on the fractional order modeling, simulations and neural networking to observe the correlation between severity of infection in HIV-AIDS patients and the role of treatments and control. The model is structured with eight classes and a modified Atangana–Baleanu derivative in Caputo’s sense. The model has several interlinking parameters which show the rates of transmission between classes. We assumed natural death and death on the disease severity in patients. The model was analyzed mathematically as well as computationally. In the mathematical aspects, R0 was plotted for different cases which play a vital role in the infection spread in the population. The model was passed through qualitative analysis for the existence of solutions and stability results. A computational scheme is developed for the model and is applied for the numerical results to analyze the intricate dynamics of the infection. It has been observed that there is a good resemblance in the results for the correlation between the hospitalization, vaccination and recovery rate of the patients. These are reaffirmed with the neural networking tools for the regression, probability, clustering, mean square error and fitting data.
An Adsorption Model Considering Fictitious Stress
Authors: Tan Xiaohua , Ma Xinjian , Li Xiaoping , Li Yilong
Published: December 2024

The adsorption of coalbed methane alters the pore structure of reservoirs, subsequently affecting the coal seam’s gas adsorption capacity. However, traditional gas adsorption models often neglect this crucial aspect. In this article, we introduce a fractal capillary bundle model that accounts for the expansion of coal seam adsorption. We utilize curvature fractal dimension and capillary fractal dimension to characterize the complexity of the coal seam’s pore structure. By incorporating the concept of fictitious stress, we have described the relationship between gas adsorption, matrix porosity, and permeability changes. We have developed a model that describes the changes in matrix porosity and permeability during the gas adsorption process. After fitting this model to experimental data, it demonstrated high accuracy in predictions. Furthermore, our investigation into how factors such as curvature fractal dimension, capillary fractal dimension, and fictitious stress influence gas adsorption capacity reveals several key findings. Firstly, the specific surface area within the pore structure of coal seams is the primary factor controlling gas adsorption capacity. Secondly, the virtual stress generated during the gas adsorption process alters the coal seam’s maximum gas adsorption capacity, a factor that cannot be overlooked. Lastly, we found that gas adsorption primarily affects the gas migration process, while under high-pressure conditions, gas desorption does not cause significant changes in the matrix porosity and permeability.
Prediction of Carbon Emissions from Coal-Fired Power Plants During Load Cycling with Varying Coal Characteristics
Authors: Liu Fuguo , Li Si
Published: December 2024

With the evolvement of the coal marketplace and massive growth in renewable resource power, conventional coal-fired generation is facing challenges in the operation of fluctuating loads and varying coal characteristics. The intent of this study is to predict carbon emissions from coal-fired power plants during load cycling and the operation of varying coal characteristics. The given correlation was revised by adding a new nitrogen term and using thermodynamic data from the latest JANAF tables. On the basis of the revised correlation, the quantitative impact of each element composition of coal on the carbon emission factor was worked out according to first-order Taylor series approximation. The O/C and H/C ratio of coal at the lowest carbon emission factor was evaluated in the VAN Krevelen diagram, showing that coals have the lowest carbon emission factor value of roughly 23.25 kg/GJ GCV at atomic O/C and H/C ratio values of about 0.08 and 0.98, respectively. Correlations of carbon emission with the proximate analysis of coal were established through stepwise linear regression using 247 coals for power generation. Based on the varying nature of the net heat rate with load condition expressed by the generic model derived from 11 typical units in-service, the impact of coal and load cycling on carbon emission was captured with a developed equation. Linking the above investigation to a study in a thermal power unit with a rated output of 1000 MW shows that the total variation of carbon emission due to the combined effect of coal and load cycling could be 27.44% if the unit cycles at 35% to 100% rated output with coal normally varying in the present context.
High-Contrast Imaging: Hide and Seek with Exoplanets
Authors: Claudi Riccardo , Mesa Dino
Published: December 2024

So far, most of the about 5700 exoplanets have been discovered mainly with radial velocity and transit methods. These techniques are sensitive to planets in close orbits, not being able to probearge star–planet separations. μ-lensing is the indirect method that allows us to probe the planetary systems at the snow-line and beyond, but it is not a repeatable observation. On the contrary, direct imaging (DI) allows for the detection and characterization ofow mass companions at wide separation (≤5–6 au). The main challenge of DI is that a typical planet–star contrast ranges from 10−6, for a young Jupiter in emittedight, to 10−9 for Earth in reflectedight. In theast two decades, aot of efforts have been dedicated to combiningarge (D ≥ 5 m) telescopes (to reduce the impact of diffraction) with coronagraphs and high-order adaptive optics (to correct phase errors induced by atmospheric turbulence), with sophisticated image post-processing, to reach such a contrast between the star and the planet in order to detect and characterize cooler and closer companions to nearby stars. Building on the first pioneering instrumentation, the second generation of high-contrast imagers, SPHERE, GPI, and SCExAO, allowed us to probe hundreds of stars (e.g., 500–600 stars using SHINE and GPIES), contributing to a better understanding of the demography and the occurrence of planetary systems. The DI offers a possible clear vision for studying the formation and physical properties of gas giant planets and brown dwarfs, and the future DI (space and ground-based) instruments with deeper detectionimits will enhance this vision. In this paper, we briefly review the methods, the instruments, the main sample of targeted stars, the remarkable results, and the perspective of this rising technique.
Natrium Alginate and Graphene Nanoplatelets-Based Efficient Material for Resveratrol Delivery
Authors: Mormile Cristina , Opriș Ocsana , Bellucci Stefano , Lung Ildiko , Kacso Irina , Turza Alexandru , Stegarescu Adina , Tripon Septimiu , Soran Maria-Loredana , Bâldea Ioana
Published: December 2024

In this study, alginate-based composite beads were developed for the delivery of resveratrol, a compound with therapeutic potential. Two formulations were prepared: one with sodium alginate and resveratrol (AR) and another incorporating graphene nanoplatelets (AGR) to improve drug release control. The beads were formed by exploiting alginate’s ability to gel via ionic cross-linking. For the AGR formulation, sodium alginate was dissolved in water, and graphene was dispersed in isopropyl alcohol to achieve smaller flakes. Resveratrol was dissolved in an ethanol/water mixture and added to the graphene dispersion; the resulting solution was mixed with the alginate one. For the AR formulation, the resveratrol solution was mixed directly with the alginate solution. Both formulations were introduced into a calcium chloride solution to form the beads. The release of resveratrol was studied in phosphate-buffered saline at different pH values. Results showed that the presence of graphene in the AGR sample increased drug release, particularly at pH 6.8, indicating a pH-driven release mechanism. Kinetic analysis revealed that the Higuchi model best describes the release mechanism. Finally, cytotoxicity tests showed the biocompatibility of the system in normal human cells. These findings suggest that graphene-enhanced alginate matrices have significant potential for controlled drug delivery applications.
Progress in Research on Metal Ion Crosslinking Alginate-Based Gels
Authors: Wang Yantao , Shen Zhenpeng , Wang Huili , Song Zhaoping , Yu Dehai , Li Guodong , Liu Xiaona , Liu Wenxia
Published: December 2024

Alginate is an important natural biopolymer and metal ion-induced gelation is one of its most significant functional properties. Alginate-based hydrogels crosslinked with metal ions are commonly utilized in the food, biomedical, tissue engineering, and environment fields. The process of metal ion-induced alginate gelation has been the subject of thorough research over the last few decades. This review aims to summarize the mechanisms of alginate hydrogels induced by different cations (primarily including Ca2+, Ba2+, Cu2+, Sr2+, Fe2+/Fe3+, and Al3+). Metal ion-induced alginate gelation shows different preferences for α-L-guluronic acid (G), β-D-mannuronic acid (M), and GM blocks. Some metal ions can also selectively bind to the carboxyl groups of guluronic acid. The properties and applications of these alginate-based hydrogels are also discussed. The primary objective of this review is to provide useful information for exploring the practical applications of alginate.
Hybrid Hydrogel Supplemented with Algal Polysaccharide for Potential Use in Biomedical Applications
Authors: Stan Dana , Mirica Andreea-Cristina , Mocanu Sorin , Stan Diana , Podolean Iunia , Candu Natalia , El Fergani Magdi , Stefan Laura Mihaela , Seciu-Grama Ana-Maria , Aricov Ludmila , Brincoveanu Oana , Moldovan Carmen , Bocancia-Mateescu Lorena-Andreea , Coman Simona M.
Published: December 2024

Hydrogels are a viable option for biomedical applications due to their biocompatibility, biodegradability, and ability to incorporate various healing agents while maintaining their biological efficacy. This study focused on the preparation and characterization of novel hybrid hydrogels enriched with the natural algae compound Ulvan for potential use in wound dressings. The characterization of the hydrogel membranes involved multiple methods to assess their structural, mechanical, and chemical properties, such as pH measurements, swelling, moisture content and uptake, gel fraction, hydrolytic degradation, protein adsorption and denaturation tests, rheological measurements, SEM, biocompatibility testing, and scratch wound assay. The hydrogel obtained with a higher concentration of Ulvan (1 mg/mL) exhibited superior mechanical properties, a swelling index of 264%, a water content of 55%, and a lower degradation percentage. In terms of rheological properties, the inclusion of ULV in the hydrogel composition enhanced gel strength, and the Alginate + PVA + 1.0ULV sample demonstrated the greatest resistance to deformation. All hydrogels exhibited good biocompatibility, with cell viability above 70% and no obvious morphological modifications. The addition of Ulvan potentiates the regenerative effect of hydrogel membranes. Subsequent studies will focus on encapsulating bioactive compounds, investigating their release behavior, and evaluating their active biological effects.
Healing Through Aloha ʻĀina: Reflections on Kahoʻolawe, Cultural Resilience, and the Power of Land Connection in Trauma Recovery
Authors: Salzer Kuʻuleialohaonālani Elizabeth
Published: December 2024

Once scarred by decades of military exploitation, Kahoʻolawe has become a symbol of resilience and cultural healing for the Kanaka Maoli, Native Hawaiian. Through Kahoʻolaweʻs ongoing restoration, the island has emerged as a cultural kīpuka (an oasis of life within a barren landscape), offering pathways for Kanaka Maoli to reconnect with their ancestral roots and foster resilience in the face of historical and contemporary trauma. Grounded in personal experiences and cultural reflections, this essay explores how reconnecting with Kahoʻolawe as a place of cultural resurgence can deepen one’s understanding of the restorative power of land connection. Aloha ʻāina, a deeply held Kanaka Maoli worldview that emphasizes a sacred, reciprocal relationship with the land. By engaging in cultural protocols and land stewardship practices on Kahoʻolawe, practitioners of aloha ʻāina contribute to the healing of intergenerational trauma rooted in colonial dispossession and ecological degradation. Thus, traditional practices, such as oli (chant), mālama ʻāina (land care), and kūkākūkā (deep discussions/processing) on Kahoʻolawe facilitate a powerful process of healing that connects individuals with ancestral knowledge and cultivates resilience across generations. These practices serve as an alternative to Western trauma healing modalities by asserting a culturally specific framework that validates the inseparability of land and identity for Indigenous healing.
AI-Powered Neurogenetics: Supporting Patient’s Evaluation with Chatbot
Authors: Zampatti Stefania , Farro Juliette , Peconi Cristina , Cascella Raffaella , Strafella Claudia , Calvino Giulia , Megalizzi Domenica , Trastulli Giulia , Caltagirone Carlo , Giardina Emiliano
Published: December 2024

Background/Objectives: Artificial intelligence and large language models like ChatGPT and Google’s Gemini are promising tools with remarkable potential to assist healthcare professionals. This study explores ChatGPT and Gemini’s potential utility in assisting clinicians during the first evaluation of patients with suspected neurogenetic disorders. Methods: By analyzing the model’s performance in identifying relevant clinical features, suggesting differential diagnoses, and providing insights into possible genetic testing, this research seeks to determine whether these AI tools could serve as a valuable adjunct in neurogenetic assessments. Ninety questions were posed to ChatGPT (Versions 4o, 4, and 3.5) and Gemini: four questions about clinical diagnosis, seven about genetic inheritance, estimable recurrence risks, and available tests, and four questions about patient management, each for six different neurogenetic rare disorders (Hereditary Spastic Paraplegia type 4 and type 7, Huntington Disease, Fragile X-associated Tremor/Ataxia Syndrome, Becker Muscular Dystrophy, and FacioScapuloHumeral Muscular Dystrophy). Results: According to the results of this study, GPT chatbots demonstrated significantly better performance than Gemini. Nonetheless, all AI chatbots showed notable gaps in diagnostic accuracy and a concerning level of hallucinations. Conclusions: As expected, these tools can empower clinicians in assessing neurogenetic disorders, yet their effective use demands meticulous collaboration and oversight from both neurologists and geneticists.
Development of a Polygenic Risk Score for Metabolic Dysfunction-Associated Steatotic Liver Disease Prediction in UK Biobank
Authors: Giardoglou Panagiota , Gavra Ioanna , Amanatidou Athina I. , Kalafati Ioanna Panagiota , Symianakis Panagiotis , Kafyra Maria , Moulos Panagiotis , Dedoussis George V.
Published: December 2024

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is the leading cause of liver-related morbidity and mortality. Although the invasive liver biopsy remains the golden standard for MASLD diagnosis, Magnetic Resonance Imaging-derived Proton Density Fat Fraction (MRI-PDFF) is an accurate, non-invasive method for the assessment of treatment response. This study aimed at developing a Polygenic Risk Score (PRS) to improve MRI-PDFF prediction using UK Biobank data to assess an individual’s genetic liability to MASLD. Methods: We iteratively sequestered 10% of MRI-PDFF samples as a validation set and split the rest of each dataset into base and target partitions, containing GWAS summary statistics and raw genotype data, respectively. PRSice2 was deployed to derive PRS candidates. Based on the frequency of SNP appearances along the PRS candidates, we generated different SNP sets according to variable frequency cutoffs. By applying the PRSs to the validation set, we identified the optimal SNP set, which was then applied to a Greek nonalcoholic fatty liver disease (NAFLD) study. Results: Data from 3553 UK Biobank participants yielded 49 different SNP sets. After calculating the PRS on the validation set for every SNP set, an optimal PRS with 75 SNPs was selected (incremental R2 = 0.025, p-value = 0.00145). Interestingly, 43 SNPs were successfully mapped to MASLD-related known genes. The selected PRS could predict traits, like LDL cholesterol and diastolic blood pressure in the UK Biobank, as also disease outcome in the Greek NAFLD study. Conclusions: Our findings provide strong evidence that PRS is a powerful prediction model for MASLD, while it can also be applied on populations of different ethnicity.
Overexpression of Cymbidium goeringii Cgo-miR159 Regulates Anther Dehiscence and Pollen Development in Arabidopsis and Tobacco
Authors: Xu Zihan , Liu Qian , Chen Yue , Wang Jinming , Shen Jianshuang , Hu Fengrong
Published: December 2024

Background: MicroRNA159 (miR159) is a conserved miRNA found in various plant species. By regulating GAMYB-like transcription factors, miR159 is involved in diverse biological processes. Cymbidium goeringii, a significant traditional Chinese orchid, has unique flower shape and elegant fragrance. However, its development has been several limited because of the low flower bud differentiation and the difficult reproduction. This research aims to provide guidance for the role of cgo-miR159 in reproductive organ development to enhance the ornamental and economic value of Cymbidium. Methods: In this study, miR159 was cloned and its expression was determined across different development stages and tissue types. The function of cgo-miR159 was identified using gene transformation in Arabidopsis and tobacco plants. Results: High expression levels of cgo-miR159 were detected in the leaves and stamens during reproductive growth and expression peaked during flower bud development when the flower was above 0.5 to 3 cm in length. In transgenic experiments, the ectopic expression of cgo-miR159 led to defective development in the stamens of model plants (Arabidopsis and tobacco), including earlier anther dehiscence and pollen deformity, which resulted in developmental abnormalities and reduced seeds count in fruits. Conclusions: In summary, cgo-miR159 affected the development of reproductive organs in model plants. This research complements previous studies on the function of miR159 and provide useful references for the genetic improvement of orchids.
The Immunoexpression and Prognostic Significance of Stem Cell Markers in Malignant Salivary Gland Tumors: A Systematic Review and Meta-Analysis
Authors: Kalogirou Eleni-Marina , Tosiou Athina , Vrachnos Stavros , Zogopoulos Vasileios L. , Michalopoulos Ioannis , Tzanavari Theodora , Tosios Konstantinos I.
Published: December 2024

Background/Objectives: Salivary gland carcinomas encompass a broad group of malignant lesions characterized by varied prognoses. Stem cells have been associated with the potential for self-renewal and differentiation to various subpopulations, resulting in histopathological variability and diverse biological behavior, features that characterize salivary gland carcinomas. This study aims to provide a thorough systematic review of immunohistochemical studies regarding the expression and prognostic significance of stem cell markers between different malignant salivary gland tumors (MSGTs). Methods: The English literature was searched via the databases MEDLINE/PubMed, EMBASE via OVID, Web of Science, Scopus, and CINHAL via EBSCO. The Joanna Briggs Institute Critical Appraisal Tool was used for risk of bias (RoB) assessment. Meta-analysis was conducted for markers evaluated in the same pair of diseases in at least two studies. Results: Fifty-four studies reported the expression of stem cell markers, e.g., c-KIT, CD44, CD133, CD24, ALDH1, BMI1, SOX2, OCT4, and NANOG, in various MSGTs. Low, moderate, and high RoB was observed in twenty-five, eleven, and eighteen studies, respectively. Meta-analysis revealed an outstanding discriminative ability of c-KIT for adenoid cystic carcinoma (AdCC) over polymorphous adenocarcinoma [P(LG)A] but did not confirm the prognostic significance of stem cell markers in MSGTs. Conclusions: This study indicated a possible link between stem cells and the histopathological heterogeneity and diverse biological behavior that characterize the MSGTs. c-KIT might be of diagnostic value in discriminating between AdCC and P(LG)A.
Integrative Transcriptomic and Small RNA Analysis Uncovers Key Genes for Cold Resistance in Rice
Authors: Luo Fan , Yin Mengmeng , Zhou Jianping , Zhou Xiaoli , Wang Chunli , Zhang Wenfeng , Chen Lijuan , Lee Dongsun
Published: December 2024

Background/Objectives: Cold stress is the main environmental factor that affects the growth and development of rice, leading to a decrease in its yield and quality. However, the molecular mechanism of rice’s low-temperature resistance remains incompletely understood. Methods: In this study, we conducted a joint analysis of miRNA and mRNA expression profiles in the cold-resistant material Yongning red rice and the cold-sensitive material B3 using high-throughput sequencing. Results: 194 differentially expressed miRNAs (DEMIs) and 14,671 differentially expressed mRNAs (DEMs) were identified. Among them, 19 DEMIs, including miR1437, miR1156, miR166, miR1861, and miR396_2 family members, showed opposite expression during the early or late stages of low-temperature treatment in two varieties, while 13 DEMIs were specifically expressed in Yongning red rice, indicating that these miRNAs are involved in rice’s resistance to low temperature. In the transcriptome analysis, 218 DEMs exhibited opposite expressions during the early or late stages of low-temperature treatment in two varieties. GO enrichment analysis indicated that these DEMs were enriched in biological processes such as a defense response to fungi, a defense response to bacteria, a plant-type cell wall modification, single-organism cellular processes, a response to chitin, and the regulation of a plant-type hypersensitive response, as well as in cellular components such as the apoplast, nucleus, vacuole, plasma membrane, and plasmodesma. Twenty-one genes were further selected as potential candidates for low-temperature resistance. The joint analysis of miRNA and mRNA expression profiles showed that 38 miRNAs corresponding to 39 target genes were candidate miRNA–mRNA pairs for low-temperature resistance. Conclusions: This study provides valuable resources for determining the changes in miRNA and mRNA expression profiles induced by low temperatures and enables the provision of valuable information for further investigating the molecular mechanisms of plant resistance to low temperatures and for the genetic improvement of cold-resistant varieties.
Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern
Authors: Marzano Nenzi , Caprara Carlotta , Reis Thiago , Montin Diego , Pretto Sofia , Rigato Matteo , Giuliani Anna , Gastaldon Fiorella , Mancini Barbara , Ronco Claudio , Zanella Monica , Zuccarello Daniela , Corradi Valentina
Published: December 2024

Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is mainly characterized by renal involvement with progressive bilateral development of renal cysts and volumetric increase in the kidneys, causing a loss of renal function, chronic kidney disease (CKD), and kidney failure. The occurrence of mosaicism may modulate the clinical course of the disease. Mosaicism is characterized by a few cell populations with different genomes. In these special cases, a genetic diagnosis could be challenging. Methods: Herein, we describe the case of a 47-year-old woman presenting with typical ultrasound and computed tomography features of ADPKD. She had stage 3b CKD and hypertension. There was no family history of ADPKD, prompting an investigation with a genetic test. Target next-generation sequencing (NGS) did not detect the presence of any genomic variants. Therefore, we carried out second-level genetic analysis to investigate the presence of a large rearrangement through a multiple ligation-dependent probe amplification (MLPA) analysis of PKD1 and PKD2 genes. Results: MLPA showed a large deletion (portion including exons 2–34 of PKD1) present in the heterozygosis with a percentage of cells close to the resolution limits of the technique used (<25–30%). We concluded that the large deletion identified was mosaicism. This variant is not reported in major ADPKD databases, but due to the type of mutation and the patient’s clinical picture, it should be considered as likely pathogenic. Conclusions: A stepwise genetic approach might be useful in those cases where standard methods do not allow one to reach a definitive diagnosis.
Omics Data Integration Uncovers mRNA-miRNA Interaction Regions in Genes Associated with Chronic Venous Insufficiency
Authors: Sarı-Tunel Fatma , Demirkan Ayse , Vural Burcak , Yıldız Cenk Eray , Komurcu-Bayrak Evrim
Published: December 2024

Background/Objectives: Chronic venous insufficiency (CVI), a chronic vascular dysfunction, is a common health problem that causes serious complications such as painful varicose veins and even skin ulcers. Identifying the underlying genetic and epigenetic factors is important for improving the quality of life of individuals with CVI. In the literature, many genes, variants, and miRNAs associated with CVI have been identified through genomic and transcriptomic studies. Despite molecular pathogenesis studies, how the genes associated with CVI are regulated by miRNAs and the effect of variants in binding regions on expression levels are still not fully understood. In this study, previously identified genes, variants, and miRNAs associated with CVI, common variants in the mRNA-miRNA binding regions, were investigated using in silico analyses. Methods: For this purpose, miRNA research tools, MBS (miRNA binding site) database, genome browsers, and the eQTL Calculator in the GTEx portal were used. Results: We identified SNVs associated with CVI that may play a direct role in the miRNA-mediated regulation of the ZNF664, COL1A2, HFE, MDN, MTHFR, SRPX, TDRD5, TSPYL4, VEGFA, and APOE genes. In addition, when the common SNVs in the mRNA binding region of 75 unique CVI related-miRNAs in five candidate genes associated with CVI were examined, seven miRNAs associated with the expression profiles of ABCA1, PIEZO1, and CASZ1 genes were identified. Conclusions: In conclusion, the relationship between genetic markers identified in the literature that play a role in the pathogenesis of the CVI and the expression profiles was evaluated for the first time in the mRNA-miRNA interaction axis.
Enhanced Forecasting of Groundwater Level Incorporating an Exogenous Variable: Evaluating Conventional Multivariate Time Series and Artificial Neural Network Models
Authors: Hoque Md Abrarul , Apon Asib Ahmmed , Hassan Md Arafat , Adhikary Sajal Kumar , Islam Md Ariful
Published: December 2024

Continuous and uncontrolled extraction of groundwater often creates tremendous pressure on groundwater levels (GWLs). As a part of sustainable planning and effective management of water resources, it is crucial to assess the existing and forecasted GWL conditions. In this study, an attempt was made to model and forecast GWL using artificial neural networks (ANNs) and multivariate time series models. Autoregressive integrated moving average (ARIMA) and ARIMA models incorporating exogenous variables (ARIMAX) were adopted as the time series models. GWL data from five monitoring wells from the study area of the Kushtia District in Bangladesh were used to demonstrate the modeling exercise. Rainfall (RF) was taken as the exogenous variable to explore whether its inclusion enhanced the performance of GWL forecasting using the developed models. It was evident from the results that the multivariate ARIMAX model (with the sum of squared errors, SSE, of 15.143) performed better than the univariate ARIMA model with an SSE of 16.585 for GWL forecasting. This demonstrates the fact that the multivariate time series models generated enhanced forecasting of GWL compared to the univariate time series models. When comparing the models, it was found that the ANN-based model outperformed the time series models with enhanced forecasting accuracy (SSE of 9.894). The results also exhibit a significant correlation coefficient (R) of 0.995 (model ANN 6-8-1) for the existing and predicted data. The current study conclusively proves the superiority of ANN over the time series models for the enhanced forecasting of GWL in the study area.
Gout in China
Authors: Ji Aichang , Tian Zibin , Shi Yongyong , Takei Riku , Chang Shun-Jen , Yip Ronald M. L. , Yin Huiyong , Li Changgui
Published: December 2024

Gout is a common inflammatory joint disease in China. In recent years, the prevalence of gout in China has been increasing and the onset age of gout has been trending younger. The common risk factors for gout in China include hyperuricemia, age, sex, obesity, hypertension, metabolic syndrome, use of drugs (e.g., diuretics), dietary factors, chronic kidney disease (CKD), ethnicity, and income. Chinese clinical guidelines recommend the diagnosis of subclinical gout, refractory gout, and clinical classification of hyperuricemia in gout patients with early-onset or family history. Maintaining a consistently low level of serum urate is crucial for the effective long-term treatment of gout. However, the Chinese guidelines recommend paying special attention to allopurinol hypersensitivity when considering urate-lowering drugs. The adherence rate to urate-lowering therapy (ULT) in Chinese patients with gout ranges from 9.6% to 40.7%. Patient education and reducing drug side effects are effective approaches to improve the adherence to ULT and the rate of achieving the target urate level. The development of new treatment principles based on clinical trials, such as ULT based on the classification of hyperuricemia and urine alkalization, is recommended to improve patient outcomes and reduce potential side effects. The study of genetics, metabolites, and intestinal microbiota has yielded new findings that may aid in the diagnosis, classification, and pathogenesis of gout in China.
Up from the Depths: The Cultural Appropriation of Godzilla in 1970s American Animation and Comics
Authors: Maravilla C. Scott
Published: December 2024

The approach taken by Marvel and Hanna-Barbera to adapting Godzilla for a young American audience is a form of cultural appropriation. Cultural appropriation involves removing the subject from its cultural context. In this case, Marvel and Hanna-Barbera removed the character from its origin, where it emerged as a consequence of the atomic bomb. Gojira is first a scourge of Japan and later its savior against invasion from cosmic forces and nefarious kaiju. Godzilla is changed into what is ultimately a sanitized version of imperial inventory. The properties of the 1970s Godzilla, however, were not wholly negative. Indeed, they laid the foundation for an American rediscovery of the original Gojira film and its sequels, which have since been released in their original versions. This article will examine how Marvel Comics and Hanna-Barbera cartoons culturally appropriated Godzilla for American children, but how this also led to an appreciation of the Japanese films.
Machine Learning Algorithm-Based Prediction of Diabetes Among Female Population Using PIMA Dataset
Authors: Ahmed Afshan , Khan Jalaluddin , Arsalan Mohd , Ahmed Kahksha , Shahat Abdelaaty A. , Alhalmi Abdulsalam , Naaz Sameena
Published: December 2024

Background: Diabetes is a metabolic disorder characterized by increased blood sugar levels. Early detection of diabetes could help individuals to manage and delay the progression of this disorder effectively. Machine learning (ML) methods are important in forecasting the progression and diagnosis of different medical problems with better accuracy. Although they cannot substitute the work of physicians in the prediction and diagnosis of disease, they can be of great help in identifying hidden patterns based on the results and outcome of disease. Methods: In this research, we retrieved the PIMA dataset from the Kaggle repository, the retrieved dataset was further processed for applied PCA, heatmap, and scatter plot for exploratory data analysis (EDA), which helps to find out the relationship between various features in the dataset using visual representation. Four different ML algorithms Random Forest (RF), Decision Tree (DT), Naïve Bayes (NB), and Logistic regression (LR) were implemented on Rattle using Python for the prediction of diabetes among the female population. Results: Results of our study showed that RF performs better in terms of accuracy of 80%, precision of 82%, error rate of 20%, and sensitivity of 88% as compared to other developed models DT, NB, and LR. Conclusions: Diabetes is a common problem prevailing across the globe, ML-based prediction models can help in the prediction of diabetes much earlier before the worsening of the condition.
Analytical Techniques for Supporting Hospital Case Mix Planning Encompassing Forced Adjustments, Comparisons, and Scoring
Authors: Burdett Robert L. , Corry Paul , Cook David , Yarlagadda Prasad
Published: December 2024

Background/Objectives: This article presents analytical techniques and a decision support tool to aid in hospital capacity assessment and case mix planning (CMP). To date, no similar techniques have been provided in the literature. Methods: Initially, an optimization model is proposed to analyze the impact of making a specific change to an existing case mix, identifying how patient types should be adjusted proportionately to varying levels of hospital resource availability. Subsequently, multi-objective decision-making techniques are introduced to compare and critique competing case mix solutions. Results: The proposed techniques are embedded seamlessly within an Excel Visual Basic for Applications (VBA) personal decision support tool (PDST), for performing informative quantitative assessments of hospital capacity. The PDST reports informative metrics of difference and reports the impact of case mix modifications on the other types of patients present. Conclusions: The techniques developed in this article provide a bridge between theory and practice that is currently missing and provides further situational awareness around hospital capacity.
Smoking History and Nicotine Dependence Alter Sleep Features in Patients with Obstructive Sleep Apnea-Hypopnea Syndrome
Authors: Grigoriou Ioanna , Kotoulas Serafeim-Chrysovalantis , Porpodis Konstantinos , Spyratos Dionysios , Papagiouvanni Ioanna , Tsantos Alexandros , Michailidou Anastasia , Mourelatos Constantinos , Mouratidou Christina , Alevroudis Ioannis , Tsakiri Kalliopi , Dourliou Vasiliki , Sakkou Agni , Matzolas Sotirios , Marneri Alexandra , Pataka Athanasia
Published: December 2024

Introduction: There are many aspects in the relationship between smoking and sleep that have not been investigated thoroughly yet, especially in regards to obstructive sleep apnea-hypopnea syndrome (OSAHS). Methods: In this cross-sectional study, 2359 participants, who have visited the sleep clinic of our hospital during a 13-year period and were former or current smokers, were included. Their smoking history, measured in packyears of smoking, and their nicotine dependence, measured with the Fagerström scale, were correlated with various epidemiological and sleep-related variables. Results: Patients with respiratory, cardiovascular and metabolic comorbidities were older, more obese and presented a significantly greater history in packyears of smoking. Packyears were positively correlated with the Epworth sleepiness scale (ESS) (r = 0.06, p = 0.007), with %REM sleep time (r = 0.19, p = 0.042), apnea-hypopnea index (AHI) (r = 0.10, p < 0.001), oxygen desaturation index (ODI) (r = 0.10, p < 0.001), mean and maximum apnea duration (r = 0.10, p < 0.001 and r = 0.11, p < 0.001, respectively), while they were negatively correlated with mean and minimum SaO2 (r = −0.18, p < 0.001 and r = −0.13, p < 0.001, respectively). Furthermore, smoking history exhibited a significantly increasing trend with increasing OSA diagnosis and severity (p < 0.001). Patients with abnormal movements during sleep and those with restless sleep showed a significantly higher nicotine dependence, measured with the Fagerström scale, compared to those without abnormal movements or restless sleep (5.4 ± 2.8 vs. 4.7 ± 2.8, p = 0.002 and 5.1 ± 2.9 vs. 4.7 ± 2.7, p = 0.043). Conclusions: Smoking history in packyears probably affects OSAHS characteristics, while nicotine dependence seems to be related more with abnormal sleep behaviors.
Patient–Nurse Communication in an Oncology Hospital Setting: A Qualitative Study
Authors: Iacorossi Laura , D’Antonio Giovanna , Condoleo Maria , Guariglia Lara , Petrone Fabrizio , Molinaro Simona , Caruso Anita
Published: December 2024

Background: Communication is an important aspect in making patients competent to define, process, and manage their disease condition as well as to intercept and satisfy psychosocial needs. Communication between patient and nurse is central to the learning and orientating process since the nurse has the greatest frequency and continuity of relationship with patients and their families. This study aims to investigate the quality of communication between patient and nurse and the factors that promote or hinder effective communication from the oncology patient’s perspective within an inpatient hospital setting. Methods: A descriptive qualitative study was conducted with one-to-one semi-structured interviews analyzed using the Framework Analysis methodology. The population consisted of oncologic patients admitted to the Medical Oncology Units of the Regina Elena National Cancer Institute in Rome. Data were analyzed using Ritchie and Spencer’s Framework Analysis. Results: The sample comprised 20 patients, with an average age of 61.35, admitted to the Medical Oncology Units of the Regina Elena National Cancer Institute in Rome. Three themes emerged: positive communication as an element of care, factors fostering communication, and factors hindering communication. Conclusions: The sample interviewed deems the quality of communication satisfactory. Familiar communication style, direct language, and caring are factors fostering communication. In contrast, lack of communication between medical and nursing staff, shortage of staff, and lack of time are considered communication barriers. Advanced communication competencies in nurses are crucial for effectively addressing the emotional and psychosocial needs of cancer patients, fostering a more empathetic and supportive care environment.
Exploring Health Promotion Behaviors, Occupational Burnout, and Sleep Disturbances in Traditional Industry Workers
Authors: Yu Ying-Fen , Chang Yi-Ya , Chang Shu-Hung
Published: December 2024

Background: Sleep disturbances affect about 40% of the global population and are a common issue among patients seeking medical consultation. There is limited research on sleep disturbances in Taiwan’s traditional industry workforce. Objective: This study aims to investigate the correlations between work patterns, health promotion behaviors, occupational burnout, and sleep disturbances among employees in traditional industries. Methods: A cross-sectional study was conducted to collect data on the work patterns, health promotion behaviors, occupational burnout, and sleep disturbances within a traditional industry. The study period was from May to June 2023. Data analysis was performed using chi-square tests, independent sample t-tests, and logistic regression. Result: Data from a total of 365 employees were collected, with 63.3% of the study subjects working in shifts and 47.9% experiencing sleep disturbances. Factors associated with sleep disturbances included personal burnout (OR = 1.07 (95% CI 1.06, 1.09); p < 0.001), shift work (OR = 2.67 (95% CI 1.53, 4.65); p < 0.001), health responsibility behavior (OR = 0.50 (95% CI 0.33, 0.77); p = 0.001), and life appreciation behavior (OR = 0.47 (95% CI 0.29, 0.76); p = 0.002). Conclusion: Occupational health nurses should regularly assess employees’ sleep status and provide psychological counseling services and health promotion programs to help employees alleviate sleep disturbances.
Dysphagia in Rare Diseases and Syndromes: Current Approaches to Management and Therapeutic Innovations—A Systematic Review
Authors: Papadopoulou Soultana , Anagnostopouplou Areti , Katsarou Dimitra V. , Megari Kalliopi , Efthymiou Efthymia , Argyriadis Alexandros , Kougioumtzis Georgios , Theodoratou Maria , Sofologi Maria , Argyriadi Agathi , Pavlidou Efterpi , Toki Eugenia I.
Published: December 2024

Background: This study presents a comprehensive investigation into the correlation between Rare Diseases and Syndromes (RDS) and the dysphagic disorders manifested during childhood and adulthood in affected patients. Dysphagia is characterized by difficulty or an inability to swallow food of any consistency, as well as saliva or medications, from the oral cavity to the stomach. RDS often present with complex and heterogeneous clinical manifestations, making it challenging to develop standardized diagnostic and therapeutic approaches. Dysphagia can arise from various etiologies, including those related to the central nervous system, inflammatory and neoplastic processes, anatomical or structural disorders, and neuromuscular conditions. These diverse etiologies can result in both structural and functional deficits or neurological impairments that compromise swallowing function. While RDS frequently leads to uncommon conditions, dysphagia remains an underrecognized complication. Objectives: The primary objective of this review is to illuminate the latest knowledge concerning the management of dysphagia in both pediatric and adult populations within the context of RDS, with a particular focus on current therapeutic approaches. To achieve this, the study provides a comprehensive analysis of existing strategies for managing dysphagia in RDS, highlighting recent advancements in therapy while identifying critical gaps in clinical knowledge and practice. By synthesizing available evidence, the review aims to deepen understanding of the unique challenges associated with dysphagia in these conditions and explore innovative interventions to enhance patient care and outcomes. Results: The integration of innovative therapeutic techniques into the speech-language pathology treatment of dysphagia augments traditional strategies, offering updated knowledge that can be applied to prognosis and therapeutic interventions across various ages and racial groups. This review also provides an overview of symptomatology, assessment techniques, and the specific characteristics of dysphagia associated with various genetic and acquired RDS.