bluuebunny/crossref_metadata_2025 huggingface dataset:
Analysis of the Effects of Different Spectral Transformation Methods on the Estimation of Chlorophyll Content of Reclaimed Vegetation in Rare Earth Mining Areas
Authors: Zhou Zhifa , Li Hengkai , Liu Kunming , Wang Xiuli , Li Chige , Yuan Wubin
Published: December 2024

Ion adsorption rare earths are an important strategic resource, but their leach mining causes post-mining wastelands and tailings to suffer from soil sanding, acidification, and heavy metal contamination. This makes natural vegetation recovery difficult, relying mainly on artificial reclamation; however, the reclaimed vegetation grows poorly due to environmental stress. Hyperspectral remote sensing technology, with its high efficiency, non-destructive nature, and wide-range monitoring capability, can accurately estimate the physiological parameters of reclaimed vegetation. This provides support for environmental regulation in mining areas. In this study, three typical types of reclaimed vegetation in the Lingbei Rare Earth Mining Area, Dingnan County, Ganzhou City, were analyzed. Hyperspectral data and the corresponding chlorophyll content were collected to compare the spectral differences between reclaimed and normal vegetation. The spectral data were processed using mathematical transformation, fractional order differentiation, discrete wavelet transform, and continuous wavelet transform. Sensitive bands were extracted, and multispectral transformed feature bands were integrated. Linear and machine learning regression models were used to estimate chlorophyll content. The effects of different spectral processing methods on chlorophyll estimation were then analyzed. The results showed that reclaimed vegetation had higher spectral reflectance than normal vegetation, with the red valley shifting towards the long-wave direction and a steeper red edge slope. Different spectral transformation methods impact the accuracy of chlorophyll content estimation. Using appropriate methods can improve estimation accuracy. Fusing multi-spectral transformation features can achieve relatively good results. Among the models, the random forest regression model provides the best performance in estimating the chlorophyll content of reclaimed vegetation. This study provides a scientific basis for rapid and accurate monitoring of reclaimed vegetation growth in rare earth mining areas, supporting environmental management and decision-making and contributing to ecological restoration.
Comparative Analysis of Embryonic Development and Antioxidant Stress Response in Hybrid Grouper (Epinephelus fuscoguttatus ♀ × E. lanceolatus ♂) with Different Ploidy Levels
Authors: Tang Haizhan , Li Yang , Zhang Meng , Fan Xin , Luo Jian , Wen Xin
Published: December 2024

Triploid fish sometimes grow faster and larger than diploids, making them valuable in aquaculture. Their underdeveloped gonads redirect energy from reproduction to muscle growth. This study compared embryonic development and antioxidant responses between allotriploid and hybrid diploid grouper (Epinephelus fuscoguttatus ♀ × E. lanceolatus ♂) after cold shock, aiming to support large-scale allotriploid production. The diploid group had a 99.08% fertilization rate and 82.87% hatching rate, while the triploid group had lower rates (95.71% fertilization, 39.63% hatching, 11.52% deformity). Triploids developed later, with higher incidences of abnormalities and mortality, especially in the gastrula and neuro-embryo stages. Triploid larvae exhibited shortened tails, abnormal yolk sacs, and impaired swimming. Flow cytometry showed triploids that had 1.55 times more DNA and larger red blood cells. Triploids had lower midgut trypsin and lipase levels than diploids (p < 0.05) but similar glucose, liver malondialdehyde, and total cholesterol levels (p > 0.05). However, they had higher liver and spleen lactate dehydrogenase, catalase, and alkaline phosphatase, along with lower spleen malondialdehyde and liver superoxide dismutase (p < 0.05). These findings offer insights into reducing mortality in allotriploid grouper aquaculture, aiding large-scale production efforts.
Effect of Whey Protein Changes on Milk Flavor and Sensory Characteristics During Heating
Authors: Zhang Zheting , Jiang Kexin , Yang Aolin , Xu Kunli , Meng Fanyu , Zhong Fang , Wang Bei
Published: December 2024

The flavor of dairy products crucially affects consumer purchase preference. Although the flavor and sensory perception of milk can be influenced by heat treatment during processing, the exact mechanism remains unclear. Therefore, this study analyzed the whey protein content and structural changes of milk heated at different time and temperature combinations and evaluated the flavor compounds and sensory characteristics of milk. The results showed that higher temperatures changed the secondary milk whey protein structures and gradually increased α-lactalbumin, β-lactoglobulin, and lactoferrin denaturation in the milk. There were differences in sensory characteristics of milk heated at different time and temperature combinations. The correlation analysis indicated that whey protein denaturation was negatively correlated with 1-octen-3-ol (p < 0.05) and positively associated with hexanal, isovaleric acid, γ-nonalactone, methyl palmitate, and phenol (p < 0.01). The changes in the content and secondary structure of whey proteins affected the interaction between flavor compounds and whey protein, which affected the release of flavor compounds. Consequently, the sensory characteristics of milk were influenced. This study provides a theoretical basis for exploring the interaction between whey proteins and flavor compounds.
Intake of S-Methylmethionine Alters Glucose Metabolism and Hepatic Gene Expression in C57BL/6J High-Fat-Fed Mice
Authors: Egea Mariana Buranelo , Pierce Gavin , Shay Neil
Published: December 2024

A diet containing foods that are sources of S-methylmethionine (SMM), and its use as a dietary supplement, have demonstrated beneficial health effects. Thus, the objective of this work was to evaluate the inclusion of SMM as a dietary supplement in C57BL/6J high-fat-fed mice to verify whether this compound alone would be responsible for these positive effects. Mice were divided into three groups: LF (low-fat diet), HF (high-fat diet), and HF+SMM (high-fat diet plus SMM), and maintained for 10 weeks with water and food provided ad libitum. Body weight and food intake were measured weekly, and food efficiency was calculated. In addition, at week 9, fasting glucose was measured and, after necropsy, at week 10, liver, inguinal adipose, and kidney weights were measured; triglycerides, histology, liver gene expression, serum insulin, and MCP-1 levels were also determined. Final body weight, average weight gain, and the liver/body weight of the SMM group showed a significant difference with the LF group. HF+SMM-fed mice show improved regulation in glucose metabolism, demonstrated by the assessment of fasting glucose, insulin concentration, and HOMA-IR, compared with the HF-fed group. Liver triglycerides and MCP-1 levels showed no significant differences between fed groups. By the positive gene regulation of Sult1e1, Phlda1, and Ciart, we hypothesized that SMM administration to mice may have regulated xenobiotic, glucose, and circadian rhythm pathways.
Yolk and Casein Sequence Self-Assembly for Low-Oil Emulsion Gel and Its Application in Low-Fat Mayonnaise
Authors: Bi Anqi , Zhu Beiwei , Cong Ning , Du Ming , Wu Chao , Zhang Ling , Guo Yan , Cheng Tingting , Yu Pei , Xu Xianbing
Published: December 2024

High dietary fat food such as mayonnaise (70–80% oil content) can induce obesity and cardiovascular diseases, thus reducing their oil content is required. However, the development of low-fat mayonnaise is still a big challenge since reducing oil content will increase the fluidity, induce phase separation and decrease the stability of mayonnaise. Herein, we provide a novel strategy for developing yolk–casein-based low-fat mayonnaise (30% oil content) with a similar texture to commercial high-fat mayonnaise through post-acidification. Unexpectedly, compared with pre-acid-treated low-fat mayonnaise, the G′ and viscosity of the post-acid-treated low-fat mayonnaise were significantly improved by 77.80% and 90.18%, respectively. The semisolid properties required for low-fat mayonnaise were realized by forming a dense yolk–casein self-assembly network structure. This study provides a novel perspective for constructing edible soft-solid products with low fat intake.
Technological and Functional Characteristics of Lactic Acid Bacteria from Traditional Serbian Cheeses
Authors: Ledina Tijana , Đorđević Jasna , Glišić Milica , Čobanović Nikola , Kovandžić Marija , Bulajić Snežana
Published: December 2024

Owing to the rich diversity of lactic acid bacteria (LAB) microbiota, traditional Serbian white-brined cheeses can serve as a valuable source of LAB strains with promising technological and functional properties. This study aimed to identify potential candidates for developing commercial bacterial cultures, which could be used to produce cheese with distinct sensory qualities and added value as a functional food product. A total of 83 LAB isolates were tested for their ability to grow under different salt concentrations and temperatures; their acidifying, proteolytic, and lipolytic activities; and their production of diacetyl and exopolysaccharides (EPSs). Four strains, one Lacticaseibacillus paracasei and three Lactiplantibacillus plantarum, were the most promising candidates for further evaluation as adjunct cultures since they showed good resistance to environmental stresses, proteolytic activity, and the ability to produce diacetyl and EPSs. None of the strains was a promising candidate for application as a starter culture or for probiotic use. Further research is required to assess the potential of the isolates to demonstrate desirable characteristics when incorporated into a cheese matrix, primarily focusing on understanding their interaction with the cheese environment and behavior under various processing conditions.
Exploring the Functional Features of Melon Peel Flour for Healthier Bakery Products
Authors: Silva Mafalda Alexandra , Gonçalves Albuquerque Tânia , Espírito Santo Liliana , Motta Carla , Almeida Agostinho , Azevedo Rui , Alves Rita C. , Oliveira Maria Beatriz P. P. , Costa Helena S.
Published: December 2024

The use of fruit by-products to develop new food products could be an advantageous approach to meet the demand for healthy foods and reduce food waste. In this study, the amino acid and mineral profiles of melon peel flour were evaluated. Non-essential/toxic elements were also determined. Furthermore, two formulations (biscuit and muffin) were developed with 50% and 100% melon peel flour, respectively. The bioaccessibility of essential minerals in these two formulations was also determined. These innovative products presented interesting contents of amino acids and high levels of minerals, contributing significantly to daily mineral requirements, mainly magnesium (18–23%), phosphorus (13–28%), molybdenum (14–17%), and manganese (10–13%). Regarding the in vitro bioaccessibility of minerals in the developed formulations, magnesium, manganese, sodium, and phosphorus were those with the highest values (75–108%). Based on these results, melon peel has the potential to improve global food security, nutrition, economic well-being, and overall health and well-being.
Effect of Brewers’ Spent Grain Addition to a Fermented Form on Dough Rheological Properties from Different Triticale Flour Cultivars
Authors: Ghendov-Mosanu Aliona , Ropciuc Sorina , Dabija Adriana , Saitan Olesea , Boestean Olga , Paiu Sergiu , Rumeus Iurie , Leatamborg Svetlana , Lupascu Galina , Codină Georgiana Gabriela
Published: December 2024

Triticale grains and brewers’ spent grain (BSG) can be new sources to develop food products. From a socio-economical point of view, this fact is important since triticale is easily adapted to the climatic changes and BSG is a low-cost material which may lead to a “zero-waste” desiderate. In this study, dough rheological properties obtained from different triticale cultivars (Ingen 33, Ingen 35, Ingen 54, and Ingen 93) cultivated in the Republic of Moldova and BSG in a fermented form (BSF) in an addition level of 10% and 17.5% were analyzed. For this purpose, different rheological devices, such as Mixolab, Alveograph, HAAKE MARS 40 Rheometer, Falling Number, and Rheofermentometer, were used. Also, the pH value of the dough samples with different levels of BSF addition during fermentation was determined. According to the data obtained, BSF addition decreased water absorption values; torques values corresponding to stages 1–5 of the Mixolab curve; and dynamic rheological elastic, viscous, and complex modules. For the 17.5% BSF addition to triticale flour, the best rheological results were obtained for the Ingen 33 and Ingen 54 varieties. In addition, the BSF addition decreased the baking strength and tenacity of the Alveograph curve. The pH values of the dough samples during fermentation significantly decreased (p < 0.05) with the increased amount of BSF incorporated into the dough recipe. The highest pH decreased values were obtained for Ingen 35 with a 17.5% BSF addition, which varied between 5.58 and 5.48. During fermentation, all data recorded by the Rheofermentometer device were improved. The dough samples presented a high retention coefficient, which varied between 99.1 and 99.5%. The falling number decreased with the increasing level of BSF in triticale flour, indicating an increase in α-amylase activity in the mixed flours. The principal component analysis data showed a strong association between triticale flour varieties without a BSF addition and those with a high amount of BSF incorporated into the dough recipe. The results obtained indicate the fact that many mixes between BSF and different triticale varieties may lead to bakery products of a good quality.
Valorization of Coffee Cherry By-Products Through Fermentation by Human Intestinal Lactobacilli in Functional Fermented Milk Beverages
Authors: Picon Antonia , Campanero Yolanda , Sánchez Carmen , Álvarez Inmaculada , Rodríguez-Mínguez Eva
Published: December 2024

During coffee production, the removal and disposal of the coffee bean-surrounding layers pose an environmental problem. In this work, we examined the effects of several aqueous coffee cherry extracts on the growth and metabolism, biofilm formation, antioxidant capacity and antimicrobial activity of six lactobacilli from the INIA collection and a commercial probiotic Lactobacillus rhamnosus GG strain. Growth medium supplementation with different coffee cherry extracts (at 40%) stimulated strain growth and metabolism. The ground cherry pulp extract (CPE) with the highest total polyphenol content was selected for further use. This CPE contained alkaloids, phenolic acids and flavonoids. Upon CPE supplementation, some strains significantly (p < 0.01) increased biofilm formation, while all strains increased antioxidant capacity and antimicrobial activity. After preliminary tests, we developed three bifunctional dairy products, containing 20% CPE and fermented with strains INIA P495, INIA P708 or GG. These strains maintained high levels after manufacture, refrigerated storage, and throughout an in vitro procedure mimicking gastrointestinal tract conditions. Compared to controls, CPE-containing products showed increased levels of total polyphenol compounds, antioxidant capacity and antimicrobial activity, together with positive sensory characteristics. CPE and these selected strains could thus be used to elaborate innovative functional fermented milk products.
New Strategy for the Covalent Immobilisation of Phenolic Compounds on Silica Particles to Fight Against Foodborne Pathogens
Authors: Rivas Alejandro , Gómez-Llorente Héctor , Moumane Oumaima , Barat Jose Manuel , Pérez-Esteve Édgar
Published: December 2024

The immobilisation of essential oil components (EOCs) on food-grade supports is a promising strategy for preserving liquid foods without the drawbacks of direct EOC addition such as poor solubility, high volatility, and sensory alterations. This study presents a novel method for covalently immobilising EOCs, specifically thymol and carvacrol, on SiO2 particles (5–15 µm) using the Mannich reaction. This approach simplifies conventional covalent immobilisation techniques by reducing the steps and reagents while maintaining antimicrobial efficacy and preventing compound migration. The antimicrobial effectiveness of the EOC–SiO2 system, applied as an additive, was tested against foodborne pathogens (Escherichia coli, Salmonella enterica, Staphylococcus aureus, and Listeria monocytogenes) inoculated into phosphate buffer solution and fresh apple juice. The results showed high antimicrobial activity, with inactivation exceeding 4-log reductions, depending on the EOC type, target microorganism, and medium. Moreover, the addition of functionalised particles did not affect the juice organoleptic properties. This study demonstrates that the Mannich reaction is an effective method for developing antimicrobial systems based on the covalent immobilisation of EOCs on silica particles, and offers a practical solution for food preservation without compromising food quality.
Polyunsaturated Fatty Acids and Human Health: A Key to Modern Nutritional Balance in Association with Polyphenolic Compounds from Food Sources
Authors: Mititelu Magdalena , Lupuliasa Dumitru , Neacșu Sorinel Marius , Olteanu Gabriel , Busnatu Ștefan Sebastian , Mihai Andreea , Popovici Violeta , Măru Nicoleta , Boroghină Steluța Constanța , Mihai Sebastian , Ioniță-Mîndrican Corina-Bianca , Scafa-Udriște Alexandru
Published: December 2024

Polyunsaturated fatty acids (PUFAs) are vital dietary elements that play a significant role in human nutrition. They are highly regarded for their positive contributions to overall health and well-being. Beyond the fact that they provide a substantial supply of energy to the body (a role that saturated fats can also perform), these unsaturated fatty acids and, especially, the essential ones are involved in cell membrane structure, blood pressure regulation, and coagulation; participate in the proper functioning of the immune system and assimilation of fat-soluble vitamins; influence the synthesis of pro- and anti-inflammatory substances; and protect the cardiovascular system. Modern diets like the Western diet and the American diet are rich in saturated fats found especially in fast food products, sweets, and processed foods, a fact that has led to an increase in the prevalence of metabolic diseases worldwide (obesity, type II diabetes, gout, cardiovascular disease). Nutritionists have drawn attention to the moderate consumption of saturated fats and the need to increase the intake of unsaturated fats to the detriment of saturated ones. This paper examines the biochemical roles of polyunsaturated fats, particularly essential fatty acids, and contrasts their benefits with the detrimental effects of saturated fat overconsumption. Furthermore, it highlights the necessity for dietary shifts towards increased PUFA intake to mitigate the global burden of diet-related health issues. The co-occurrence of PUFAs and polyphenols in plant-based foods highlights the sophistication of nature’s design. These bioactive compounds are not randomly distributed but are present in foods humans have consumed together historically. From traditional diets like the Mediterranean, which pairs olive oil (PUFAs and polyphenols) with vegetables and legumes, to Asian cuisines combining sesame seeds with turmeric, cultural practices have long harnessed this natural synergy.
Monitoring of the Dry-Curing Process in Iberian Ham Through the Evaluation of Fat Volatile Organic Compounds by Gas Chromatography–Ion Mobility Spectrometry and Non-Destructive Sampling
Authors: Rodríguez-Hernández Pablo , Martín-Gómez Andrés , Rivero-Talavera Miriam , Cardador María José , Rodríguez-Estévez Vicente , Arce Lourdes
Published: December 2024

The current quality control of the dry-curing process in Iberian ham is performed with an olfactory evaluation by ham experts. The present study proposes to monitor the dry-curing process of Iberian ham using an objective analytical methodology that involves non-destructive sampling of the subcutaneous fat of the hams and a volatile profile analysis using gas chromatography–ion mobility spectrometry. Thirty-eight 100% Iberian acorn-fed hams were examined in total, with eighteen hams monitored during the post-salting stage and twenty during the drying-maturation stage. A total of 164 markers were detected in the samples monitored during the post-salting stage, whereas 276 were detected in the hams monitored during the drying-maturation stage. The study of the trends observed in the intensities of the markers throughout the curing process enabled the detection of potential indicators of the end of the post-salting stage. Thus, representative intensity thresholds were established for some markers (3-methylbutanal, pentanal, hexanal, (E)-octen-2-al, 2-hexen-1-ol and heptan-1-ol) to determine the optimal point to specify the end of the post-salting process for hams. These findings provide an objective tool to support the traditional sensory evaluation currently performed in the industry.
Comparative Analysis of Supervised Learning Techniques for Forecasting PV Current in South Africa
Authors: Ondo Ekogha Ely , Owolawi Pius A.
Published: December 2024

The fluctuations in solar irradiance and temperature throughout the year require an accurate methodology for forecasting the generated current of a PV system based on its specifications. The optimal technique must effectively manage rapid weather fluctuations while maintaining high accuracy in forecasting the performance of a PV panel. This work presents a comparative examination of supervised learning algorithms optimized with particle swarm optimization for estimating photovoltaic output current. The empirical formula’s measured currents are compared with outputs from various neural networks techniques, including feedforward neural networks (FFNNs), the general regression network known as GRNN, cascade forward neural networks also known as CFNNs, and adaptive fuzzy inference systems known as ANFISs, all optimized for enhanced accuracy using the particle swarm optimization (PSO) method. The ground data utilized for these models comprises hourly irradiations and temperatures from 2023, sourced from several places in South Africa. The accuracy levels indicated by statistical error margins from the root mean square error (RMSE), mean bias error (MBE), and mean absolute percentage error (MAPE) imply a universal enhancement in the algorithms’ precision upon optimization.
Metallothionein-1A (MT1A) Gene Variability May Play a Role in Female Frailty: A Preliminary Study
Authors: Crocco Paolina , De Rango Francesco , La Grotta Rossella , Passarino Giuseppe , Rose Giuseppina , Dato Serena
Published: December 2024

Background/Objectives: Frailty is a complex geriatric syndrome resulting in decreased physiological reserve. While genetics plays a role, the underlying mechanisms remain unsolved. Metallothioneins (MTs), metal-binding proteins with high affinity for zinc, an essential mineral for many physiological functions, are involved in processes including oxidative stress and inflammation. We investigated the impact of genetic variations in MTs on frailty. Methods: 448 subjects (235 females and 213 males, median age of 76 years) were categorized into three frailty groups (non-frail/pre-frail/frail), by hierarchical cluster analysis based on cognitive status (MMSE), functional capacity (ADL), and physical strength (HGS). Subjects were analyzed for selected SNPs in MT1A, MT1B, MT2A, and MT3 genes by PCR-RFLP. Results: An association was found between the rs8052394-A/G (Lys51Arg) polymorphism in the MT1A gene and frailty in females both in binary (OR = 0.345, p = 0.037) and multinomial logistic regression (OR = 0.343, p = 0.036) corrected for age and sex, with carriers of the minor G-allele less likely to transition from non-frail to pre-frail status. Additionally, a significant association with albumin levels (beta = 0.231; p = 0.027) and a trend of association with CRP levels (beta = −1.563; p = 0.097) were observed for this SNP in non-frail females, both indicative of a low inflammatory status. However, Bonferroni correction for multiple SNPs and physiological parameters tested renders these results statistically non-significant. Conclusions: Although its associations do not survive Bonferroni correction, this exploratory study suggests a sex-specific influence of MT1A variability in frailty, likely affecting zinc availability, aligning with ongoing research on sex differences in frailty risk and progression. Larger studies are needed to validate these findings and clarify the mechanisms behind MTs’ variability in frailty progression.
Genome-Wide Identification and Characterization of HSP70 Gene Family in Tausch’s Goatgrass (Aegilops tauschii)
Authors: Xu Yongmei , Liu Yue , Yi Yanjun , Liu Jiajia
Published: December 2024

Background: Aegilops tauschii, a winter annual grass weed native to Eastern Europe and Western Asia, has become a widespread invasive species in the wheat-growing regions of China due to its high environmental adaptability. This study aims to explore the molecular mechanisms underlying the stress resistance of Tausch’s goatgrass, focusing on the HSP70 gene family. Methods: A genome-wide analysis was conducted to identify and characterize the HSP70 gene family in A. tauschii. Afterward, their physicochemical properties, phylogenetic relationships, gene structures, and chromosomal distributions were analyzed. Additionally, cis-acting regulatory elements were predicted to understand their potential role in stress resistance. Results: A total of 19 identified HSP70 family genes were classified into four subfamilies and distributed across all chromosomes. The syntenic analysis revealed extensive homology between Tausch’s goatgrass and wheat HSP70 genes. Segmental duplication was found to play a crucial role in the expansion of the HSP70 gene family. The prediction of cis-acting elements suggested that these genes are involved in stress resistance to various environmental conditions. Conclusions: This study provides a comprehensive overview of the HSP70 gene family in A. tauschii, offering insights into their role in stress resistance and their potential application in understanding invasive species behavior and improving wheat resilience. Further research is needed to validate their functional roles in stress adaptation.
Polygenic Score Approach to Predicting Risk of Metabolic Syndrome
Authors: Timasheva Yanina , Kochetova Olga , Balkhiyarova Zhanna , Korytina Gulnaz , Prokopenko Inga , Nouwen Arie
Published: December 2024

Background/Objectives: Metabolic syndrome (MetS) is a complex condition linking obesity, diabetes, and hypertension, representing a major challenge in clinical care. Its rising global prevalence, driven by urbanization, sedentary lifestyles, and dietary changes, underscores the need for effective management. This study aims to explore the genetic mechanisms behind MetS, including adiposity, inflammation, neurotransmitters, and β-cell function, to develop a prognostic tool for MetS risk. Methods: We genotyped 40 genetic variants across these pathways in 279 MetS patients and 397 healthy individuals. Using logistic regression, we evaluated the prognostic capability of a polygenic score model for MetS risk, both independently and with other factors like sex and age. Results: Logistic regression analysis identified 18 genetic variants significantly associated with MetS. The optimal predictive model used polygenic scores calculated with weights assigned to the 18 loci (AUC 82.5%, 95% CI 79.4–85.6%), with age and sex providing a minimal, non-significant improvement (AUC 83.3%, 95% CI 80.2–86.3%). The addition of the polygenic score significantly improved net reclassification (NRI = 1.03%, p = 3.42 × 10−50). Including all 40 variants did not enhance prediction (NRI = −0.11, p = 0.507). Conclusions: Polygenic scores could aid in predicting MetS risk and health outcomes, emphasizing the need for diagnostic tools tailored to specific populations. Additional research is warranted to corroborate these conclusions and explore the molecular mechanisms of MetS.
Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy
Authors: Ridgeway Anna R. , Shortall Ciara , Finnegan Laura K. , Long Róisín , Matthews Evan , Dockery Adrian , Kopčić Ella , Whelan Laura , Kirk Claire , Silvestri Giuliana , Turner Jacqueline , Keegan David J. , Millington-Ward Sophia , Chadderton Naomi , Duignan Emma , Kenna Paul F. , Farrar G. Jane
Published: December 2024

Background: An estimated 10–15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study investigated two novel splice-altering variants, CHM NM_000390.4:c.941-11T>G and CACNA1F NM_005183.4:c.2576+4_2576+5del implicated in choroideremia and cone dystrophy (COD), respectively, resulting in significant visual loss. Methods: Next-generation sequencing was employed to identify the candidate variants in CHM and CACNA1F, which were confirmed using Sanger sequencing. Cascade analysis was undertaken when additional family members were available. Functional analysis was conducted by cloning genomic regions of interest into gateway expression vectors, creating variant and wildtype midigenes, which were subsequently transfected into HEK293 cells. RNA was harvested and amplified by RT-PCR to investigate the splicing profile for each variant compared to the wildtype. Novel variants were reclassified according to ACMG/AMP and ClinGen SVI guidelines. Results: Midigene functional analysis confirmed that both variants disrupted splicing. The CHM NM_000390.4:c.941-11T>G variant caused exon 8 skipping, leading to a frameshift and the CACNA1F NM_005183.4:c.2576+4_2576+5del variant caused a multimodal splice defect leading to an in-frame insertion of seven amino acids and a frameshift. With this evidence, the former was upgraded to likely pathogenic and the latter to a hot VUS. Conclusions: This study adds to the mutational spectrum of splicing defects implicated in retinal degenerations by identifying and characterising two novel variants in CHM and CACNA1F. Our results highlight the importance of conducting functional analysis to investigate the consequences of intronic splice-altering variants and the significance of reclassifying VUS to confirm a genetic diagnosis.
Differential microRNA and Target Gene Expression in Scots Pine (Pinus sylvestris L.) Needles in Response to Methyl Jasmonate Treatment
Authors: Krivmane Baiba , Ruņģis Dainis Edgars
Published: December 2024

Background/objectives: Methyl jasmonate is a plant signaling molecule involved in a wide range of functions, including stress responses. This study investigates the relative differential expression of microRNAs and their target genes in response to methyl jasmonate treatment of Scots pine needles. Methods: A combined strategy of high-throughput sequencing and in silico prediction of potential target genes was implemented. Results: a total of 58 differentially expressed (DE) microRNAs (miRNAs) (43 up-regulated and 15 down-regulated), belonging to 29 miRNA families, were identified. The 41 DE miRNAs from 17 families were conifer-specific miRNA families—miR946, miR947, miR950, miR1312, miR1313, miR1314, miR3693, miR3107, miR11452, miR11466, miR11487, miR11490, miR11504, miR11511, miR11532, miR11544, and miR11551. The other DE miRNAs (miR159, miR164, miR169, miR396, miR397, miR398, miR408, miR535) were conserved miRNAs, which are also found in angiosperm species. Transcriptome analysis identified 389 gene transcripts with 562 miRNA-target sites targeted by 57 of the 58 DE miRNAs. Of these, 250 target genes with 138 different GO annotations were found for the 41 DE conifer-specific conserved miRNAs. Conclusions: The 26 DE miRNAs from 14 DE miRNA families, of which almost all (12 families, 24 miRNAs) are conifer specific, and were associated with 68 disease resistance and TMV resistance proteins, TIR-NBS-LRR, LRR receptor-like serine/threonine-protein kinase, putative CC-NBS-LRR protein, and putative NBS-LRR protein target transcripts with 29 target gene GO term descriptions. Some of the genes targeted by conifer-specific miRNAs have been previously reported to be targeted by other miRNAs in angiosperms, indicating that the miRNA-target gene regulation system can vary between species.
Guidelines on Management of Hereditary Polyposis Syndromes in Pediatric Patients: Agreement, Disagreement and Where It Matters
Authors: Hudson Taina , Phen Claudia , Rojas Isabel , Cohen Shlomi , Hyer Warren , Attard Thomas
Published: December 2024

Hereditary polyposis syndromes are rare but potentially devastating conditions which require multidisciplinary care from an early age. Societal guidelines, which ideally combine expert opinions and medical evidence, serve as the framework for disease diagnosis, surveillance and treatment. However, there is a significant underrepresentation of pediatric gastroenterology input in guideline formulation, and additionally, recommendations can vary significantly between societies, which can have a moderate-to-high clinical impact on patient care. This paper aims to summarize key differences in management based on societal guidelines and identify some of the factors which may contribute to divergence in care in hereditary polyposis syndromes in pediatric patients. The authors review the literature underlying the divergence in recommendations and attempt to reconcile these differences with a closer consideration of the pediatric population, considering the available evidence. This review highlights the need to harmonize recommendations across subspecialties and professional societies and sheds light on the significant underrepresentation of pediatric gastroenterology input in guideline formulation. Given the poor-quality evidence underlying many societal guidelines and the lack of pediatric gastroenterology representation in guideline formulation in these rare syndromes, there is a need for collaborative, multicenter, registry-based studies to refine and improve care standards.
Burnout and Professional Quality of Life Assessment in Portuguese Healthcare Professionals Working in Oncology and Palliative Care: A Cross-Sectional Study
Authors: Gonçalves Florbela , Gaudêncio Margarida , Paiva Ivo , Castelo Branco Miguel , Viana Joaquim
Published: December 2024

Introduction/Background: Burnout is a three-dimensional syndrome characterized by exhaustion that appears when the professional is constantly exposed to a stressful work environment, as well as depersonalization and lower personal accomplishment. Professional quality of life at work can be defined as the satisfaction degree that a person feels when being or going to their workplace. Objective: To evaluate burnout and professional quality of life in healthcare professionals working in oncology and palliative care. Material and methods: A cross-sectional, observational, and descriptive study was carried out in a convenience sample of 337 healthcare professionals from a Portuguese Oncology Hospital. The assessment tools were a sociodemographic questionnaire, the Maslach Burnout Inventory (MBI), and the Professional Quality of Life—version 5 (proQOL-5) scales. Statistical analysis was performed using the IBM SPSS® Statistics program (significance level of 95% (p ≤ 0.05)). Results: The majority of professionals were female (84%), with a median age of 41 years. Most professionals work in oncological care services (76.8%), with an average of 40 h a week. There were no statistically significant differences in MBI and ProQOL dimensions between the two groups studied (professionals working in oncology vs. palliative care). In the sample and group of professionals working with palliative patients, it was observed that lower levels of compassion satisfaction were related to higher levels of emotional exhaustion (p < 0.001). On the other hand, higher levels of satisfaction correlated with a greater sense of personal accomplishment (p < 0.001); higher levels of secondary traumatic stress were related to a greater tendency towards emotional exhaustion (p < 0.001) and depersonalization (p = 0.031). Discussion and conclusions: Working in oncology and palliative care may predispose one to the onset of burnout related to contact with distress and suffering. With this study, the authors intend to demonstrate that both scales (MBI and ProQOL) are complementary in the analysis of the prevalence of burnout and professional quality of life, particularly in the context of oncology and palliative care. The risk of compassion fatigue and burnout highlights the need to develop coping strategies to minimize this risk and improve the quality of life and bonding of health professionals.
Assessment of Skills of Caregivers Providing Care for Stroke Patients in East Kazakhstan Region
Authors: Kairatova Gulnaz K. , Khismetova Zaituna A. , Smailova Dariga S. , Serikova-Esengeldina Dinara S. , Berikuly Duman , Akhmetova Kamila M. , Shalgumbayeva Gulnar M.
Published: December 2024

Objectives: This study investigated stroke survivors and the characteristics of care management after discharge from hospital to home. The study aimed to identify caregiving difficulties and to assess mastery of skills in implementing recovery activities at home. This was a cross-sectional study. Methods: As part of the study, we interviewed 205 informal caregivers caring for stroke survivors. For descriptive statistics, frequencies, mean, medians, and standard deviations were calculated. Results: Caregivers determined that the main aim was to restore motor activity in 58% (p ≤ 0.021), and the difficulties they most often encounter during caregiving are difficulties related to obtaining information from medical personnel, or not understanding the information received in people under 50 years of age, which were indicated in 47.9% of cases, while in people over 50 years of age, this indicator was 49.5%. The emotional state of the informal caregivers is closely interrelated with the state of stroke survivors. The informal caregivers with a higher education are more resistant to these changes related to the patient’s health. Conclusions: The informal caregivers in East Kazakhstan face challenges such as inadequate preparation, limited resources, and emotional strain, hindering effective care. High rates of stroke-related impairments highlight the need for better rehabilitation programs and informal caregiver support. Future research should assess intervention programs and support systems.
The Family Doctor in the “COVID-19 Era”
Authors: Munteanu Andreea , Lighezan Daniel Florin , Rosca Maria-Silvia , Otiman Gabriela , Nicoraș Violeta Ariana , Nistor Daciana , Kundnani Nilima Rajpal , Dinu Anca-Raluca , Rosca Ciprian Ilie
Published: December 2024

The SARS-CoV-2 virus infection, the most severe pandemic in recent human history, found healthcare systems around the world more or less unprepared. Adjusting to this challenge involved changes in the daily routines of healthcare systems, as well as the patients, once again highlighting the importance of primary care (family physician or general practitioner). In the context of the COVID-19 pandemic, the family doctor in Romania played a crucial role in patient management, rapidly adapting to the changes and challenges imposed by the state of emergency. Their involvement quickly evolved from in-person consultations to online assessments, as they took on responsibilities such as monitoring patients in isolation or quarantine and issuing necessary medical leaves. Moreover, family doctors were directly involved in the COVID-19 vaccination process, facing challenges related to access to scheduling platforms and limited resources of protective equipment. Although they were on the front line of the healthcare response, recognition through incentives or compensations came late and incompletely, and their efforts in combating the pandemic were often overlooked. Designating family doctors’ offices as public utility medical units (regardless of their organisational form) and supporting their activities through increased equipment and medical devices provided by local or central authorities are the keys to fighting for human lives in critical situations. Implementing clear and universal rules regarding the competencies (skills) and duties of family doctors, both in normal life situations and in exceptional circumstances, is of utmost importance. Little is known about the dedicated work and dedication of family physicians to their patients. Few studies have been carried out on the activity of the family doctor and their professional difficulties during the pandemic period. Some studies, on a small number of subjects, tried to evaluate the psychological adaptation of the family doctor to the new epidemiological situation. The aim of this narrative review is to highlight the difficulties to which family doctors had to adapt, comparing the data from the Romanian medical system with those discovered in the medical literature regarding family doctors from all over the world.
Photorealistic Texture Contextual Fill-In
Authors: Richtr Radek
Published: December 2024

This paper presents a comprehensive study of the application of AI-driven inpainting techniques to the restoration of historical photographs of the Czech city Most, with a focus on restoration and reconstructing the lost architectural heritage. The project combines state-of-the-art methods, including generative adversarial networks (GANs), patch-based inpainting, and manual retouching, to restore and enhance severely degraded images. The reconstructed/restored photographs of the city Most offer an invaluable visual representation of a city that was largely destroyed for industrial purposes in the 20th century. Through a series of blind and informed user tests, we assess the subjective quality of the restored images and examine how knowledge of edited areas influences user perception. Additionally, this study addresses the technical challenges of inpainting, including computational demands, interpretability, and bias in AI models. Ethical considerations, particularly regarding historical authenticity and speculative reconstruction, are also discussed. The findings demonstrate that AI techniques can significantly contribute to the preservation of cultural heritage, but must be applied with careful oversight to maintain transparency and cultural integrity. Future work will focus on improving the interpretability and efficiency of these methods, while ensuring that reconstructions remain historically and culturally sensitive.
Reconstructing Contact Space Biographies in Sudan During the Bronze Age
Authors: Budka Julia , Aglan Hassan , Ward Chloë
Published: December 2024

Traditional models of interaction in northern Sudan have innate Egyptological, elite, and urban biases which have relegated certain areas to mere peripheries of more ‘established’ and ‘central’ sites. In order to reach a higher resolution understanding of cultural dynamics and diversity of ancient Nilotic groups, the DiverseNile project has established the bespoke concept of Contact Space Biography which we present in the following article. We challenge existing approaches to cultural contact in the region by adopting a bottom-up approach which moves away from well-established categorisation of sites in our study area. In particular by reconstructing landscape biographies of the Bronze Age in the Middle Nile beyond established cultural categories in order to provide new insights into the ancient dynamics of social spaces, which include landscape features and non-human activities. In the following we instead consider such areas as complex social spaces intertwined with, an often changing, landscape by presenting our findings from the study of cemetery and settlement sites. Overall, the concept of Contact Space Biography effectively combines models of contact spaces, the idiosyncrasies of a changing landscape and the technological and industrial prerogatives of those living in and accessing this region.
Effects of Financial Literacy and Financial Behavior on Financial Well-Being: Meta-Analytical Review of Experimental Studies
Authors: Choowan Phaktada , Daovisan Hanvedes , Suwanwong Charin
Published: December 2024

The purpose of this meta-analytical review of experimental studies was to examine the effects of financial literacy and financial behavior on financial well-being. This research was conducted by a master’s in library and information science (MLIS)-trained Information Specialist using the PICO framework. Of the 3089 publications identified, 415 studies were assessed for eligibility, and 9 articles met the inclusion criteria. The meta-analytical review of the selected studies was performed using a two-level model of the MAJOR module for JAMOVI 2020. The potential effect size of the intervention studies was 0.75, indicating the heterogeneity between groups in terms of financial literacy, which rejected the null hypothesis in favor of the alternative hypothesis. The theoretical and practical implications, strengths and limitations, and possibilities for future research were also addressed in this meta-analysis.
Silicon-Mitigated Effect on Zinc-Induced Stress Conditions: Epigenetic, Morphological, and Physiological Screening of Barley Plants
Authors: Mazurek Marzena , Tobiasz-Salach Renata , Stadnik Barbara , Migut Dagmara
Published: December 2024

Plants are increasingly exposed to stress-induced factors, including heavy metals. Zinc, although it is a microelement, at high concentrations can be phytotoxic to plants by limiting their growth and development. The presented research confirmed the inhibition effect of Zn on morphological and physiological parameters in barley plants. However, the effect was Zn dose dependent (50 µM, 100 µM, and 200 µM), as well as part of the plants (above ground or roots). To mitigate the negative effects of Zn, plants were sprayed with 0.1% silicon. Silicon was proven to have a positive effect on mitigating the inhibitory effects of Zn-induced stress. In most cases, an increase in both morphological (length, elongation, fresh and dry weights, and weather content) and physiological (relative chlorophyll content and fluorescence) parameters was observed. This occurrence was dependent on the Zn dose. Epigenetic analyses confirmed differences in the DNA methylation level, both between plants subjected to stress at different strengths (50 µM, 100 µM, and 200 µM Zn) and between plants sprayed with Si or not. The differences indicate that silicon affects the epigenome of barley plants, thereby modifying the response of plants to stress factors. This modification may be the basis for plants to acquire resistance as “epigenetic memory”.