bluuebunny/crossref_metadata_2025 huggingface dataset:
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases
Authors: Zaman Qaiser , Khan Muhammad Abbas , Sahar Kalsoom , Rehman Gauhar , Khan Hamza , Rehman Mehwish , Najumuddin  , Ahmad Ilyas , Tariq Muhmmad , Muthaffar Osama Yousef , Abdulkareem Angham Abdulrhman , Bibi Fehmida , Naseer Muhammad Imran , Faisal Muhammad Shah , Wasif Naveed , Jelani Musharraf
Published: January 2023

Charcot–Marie–Tooth disease (CMT) and autosomal recessive spastic ataxia of Charlevoix–Saguenay type (ARSACS) are large heterogeneous groups of sensory, neurological genetic disorders characterized by sensory neuropathies, muscular atrophies, abnormal sensory conduction velocities, and ataxia. CMT2EE (OMIM: 618400) is caused by mutations in MPV17 (OMIM: 137960), CMT4F (OMIM: 614895) is caused by PRX (OMIM: 605725), CMTX1 (OMIM: 302800) is caused by mutations in GJB1 (OMIM: 304040), and ARSACS (OMIM: 270550) is caused by mutations in SACS (OMIM: 604490). In this study, we enrolled four families: DG-01, BD-06, MR-01, and ICP-RD11, with 16 affected individuals, for clinical and molecular diagnoses. One patient from each family was analyzed for whole exome sequencing and Sanger sequencing was done for the rest of the family members. Affected individuals of families BD-06 and MR-01 show complete CMT phenotypes and family ICP-RD11 shows ARSACS type. Family DG-01 shows complete phenotypes for both CMT and ARSACS types. The affected individuals have walking difficulties, ataxia, distal limb weakness, axonal sensorimotor neuropathies, delayed motor development, pes cavus, and speech articulations with minor variations. The WES analysis in an indexed patient of family DG-01 identified two novel variants: c.83G>T (p.Gly28Val) in MPV17 and c.4934G>C (p.Arg1645Pro) in SACS. In family ICP-RD11, a recurrent mutation that causes ARSACS, c.262C>T (p.Arg88Ter) in SACS, was identified. Another novel variant, c.231C>A (p.Arg77Ter) in PRX, which causes CMT4F, was identified in family BD-06. In family MR-01, a hemizygous missense variant c.61G>C (p.Gly21Arg) in GJB1 was identified in the indexed patient. To the best of our knowledge, there are very few reports on MPV17, SACS, PRX, and GJB1 causing CMT and ARSACS phenotypes in the Pakistani population. Our study cohort suggests that whole exome sequencing can be a useful tool in diagnosing complex multigenic and phenotypically overlapping genetic disorders such as Charcot–Marie–Tooth disease (CMT) and spastic ataxia of Charlevoix–Saguenay type.
Identification and Characterization of Glycine- and Arginine-Rich Motifs in Proteins by a Novel GAR Motif Finder Program
Authors: Wang Yi-Chun , Huang Shang-Hsuan , Chang Chien-Ping , Li Chuan
Published: January 2023

Glycine- and arginine-rich (GAR) motifs with different combinations of RG/RGG repeats are present in many proteins. The nucleolar rRNA 2′-O-methyltransferase fibrillarin (FBL) contains a conserved long N-terminal GAR domain with more than 10 RGG plus RG repeats separated by specific amino acids, mostly phenylanalines. We developed a GAR motif finder (GMF) program based on the features of the GAR domain of FBL. The G(0,3)-X(0,1)-R-G(1,2)-X(0,5)-G(0,2)-X(0,1)-R-G(1,2) pattern allows the accommodation of extra-long GAR motifs with continuous RG/RGG interrupted by polyglycine or other amino acids. The program has a graphic interface and can easily output the results as .csv and .txt files. We used GMF to show the characteristics of the long GAR domains in FBL and two other nucleolar proteins, nucleolin and GAR1. GMF analyses can illustrate the similarities and also differences between the long GAR domains in the three nucleolar proteins and motifs in other typical RG/RGG-repeat-containing proteins, specifically the FET family members FUS, EWS, and TAF15 in position, motif length, RG/RGG number, and amino acid composition. We also used GMF to analyze the human proteome and focused on the ones with at least 10 RGG plus RG repeats. We showed the classification of the long GAR motifs and their putative correlation with protein/RNA interactions and liquid–liquid phase separation. The GMF algorithm can facilitate further systematic analyses of the GAR motifs in proteins and proteomes.
Insights into the Sulfate Transporter Gene Family and Its Expression Patterns in Durum Wheat Seedlings under Salinity
Authors: Puresmaeli Fatemeh , Heidari Parviz , Lawson Shaneka
Published: January 2023

Sulfate transporters (SULTRs) are an essential plant transporter class responsible for the absorption and distribution of sulfur, an essential plant growth element. SULTRs are also involved in processes related to growth and development and in response to environmental stimuli. In the present study, 22 TdSULTR family members were identified and characterized in the genome of Triticum turgidum L. ssp. durum (Desf.) using available bioinformatics tools. The expression levels of candidate TdSULTR genes were investigated under salt treatments of 150 and 250 mM NaCl after several different exposure times. TdSULTRs showed diversity in terms of physiochemical properties, gene structure, and pocket sites. TdSULTRs and their orthologues were classified into the known five main plant groups of highly diverse subfamilies. In addition, it was noted that segmental duplication events could lengthen TdSULTR family members under evolutionary processes. Based on pocket site analysis, the amino acids leucine (L), valine (V), and serine (S) were most often detected in TdSULTR protein binding sites. Moreover, it was predicted that TdSULTRs have a high potential to be targeted by phosphorylation modifications. According to promoter site analysis, the plant bioregulators ABA and MeJA were predicted to affect TdSULTR expression patterns. Real-time PCR analysis revealed TdSULTR genes are differentially expressed at 150 mM NaCl but show similar expression in response to 250 mM NaCl. TdSULTR reached a maximum level of expression 72 h after the 250 mM salt treatment. Overall, we conclude that TdSULTR genes are involved in the response to salinity in durum wheat. However, additional studies of functionality are needed to determine their precise function and linked-interaction pathways.
Response Surface Methodology for Optimization of Multiplex-PCR Protocols for Detection of TYLCV, TSWV and Fol Molecular Markers: Analytical Performance Evaluation
Authors: Lafrance Richecarde , Valdez-Torres José Benigno , Villicaña Claudia , García-Estrada Raymundo Saúl , Esparza-Araiza Mayra Janeth , León-Félix Josefina
Published: January 2023

Molecular markers linked to disease resistance genes which affect economically important crops are of great interest. In the case of tomato, a major focus on resistance breeding to multiple fungal and viral pathogens such as Tomato yellow leaf curl virus (TYLCV), Tomato spotted wilt virus (TSWV) and Fusarium oxysporum f. sp. lycopersici (Fol), have led to the introgression of several resistance genes; therefore, molecular markers have become important in molecular-assisted selection (MAS) of tomato varieties resistant to those pathogens. However, assays that allow simultaneous evaluation of resistant genotypes, such as multiplex PCR, need to be optimized and evaluated to demonstrate their analytical performance, as many factors can affect them. This work aimed to generate multiplex PCR protocols for the joint detection of the molecular markers associated with pathogen resistance genes in tomato plants that are sensitive, specific and repeatable. For the optimization a central composite design of a response surface methodology (RSM-CCD) was used. For analytical performance evaluation, specificity/selectivity and sensibility (limit of detection and dynamic range) were analyzed. Two protocols were optimized: the first one with a desirability of 1.00, contained two markers (At-2 and P7-43) linked to I- and I-3-resistant genes. The second one with a desirability of 0.99, contained markers (SSR-67, SW5 and P6-25) linked to I-, Sw-5-, and Ty-3-resistant genes. For protocol 1, all the commercial hybrids (7/7) were resistant to Fol, and for protocol 2, two hybrids were resistant to Fol, one to TSWV and one to TYLCV with good analytical performance. In both protocols, the varieties considered susceptible to the pathogens, no-amplicon or susceptible amplicons, were observed. The optimized multiplex PCR protocols showed dynamic ranges from 5.97 up to 161.3 ng DNA. The limit of detection was 17.92 ng and 53.76 ng DNA for protocols 1 and 2, respectively, giving 100% positive results in the test replicates. This method allowed to develop optimized multiplex PCR protocols with few assays which translates into less time and resources, without sacrificing method performance.
Effects of Wnt10a and Wnt10b Double Mutations on Tooth Development
Authors: Yoshinaga Kaoru , Yasue Akihiro , Mitsui Silvia Naomi , Minegishi Yoshiyuki , Oyadomari Seiichi , Imoto Issei , Tanaka Eiji
Published: January 2023

WNT molecules are the regulators of various biological functions, including body axis formation, organ development, and cell proliferation and differentiation. WNTs have been extensively studied as causative genes for an array of diseases. WNT10A and WNT10B, which are considered to be genes of the same origin, have been identified as causative genes for tooth deficiency in humans. However, the disrupted mutant of each gene does not show a decrease in teeth number. A negative feedback loop, interacting with several ligands based on a reaction–diffusion mechanism, was proposed to be important for the spatial patterning of tooth formation, and WNT ligands have been considered to play a pivotal role in controlling tooth patterning from mutant phenotypes of LDL receptor-related proteins (LRPs) and WNT co-receptors. The Wnt10a and Wnt10b double-mutants demonstrated severe root or enamel hypoplasia. In Wnt10a−/− and Wnt10a+/−;Wnt10b−/− mice, changes in the feedback loop may collapse the modulation of fusion or split a sequence of tooth formation. However, in the double-knockout mutant, a decrease in the number of teeth was observed, including the upper incisor or third molar in both jaws. These findings suggest that there may be a functional redundancy between Wnt10a and Wnt10b and that the interaction between the two genes functions in conjunction with other ligands to control the spatial patterning and development of teeth.
Characterizing the Complete Mitochondrial Genomes of Three Bugs (Hemiptera: Heteroptera) Harming Bamboo
Authors: Zhu Wenli , Yang Lin , Long Jiankun , Chang Zhimin , Gong Nian , Mu Yinlin , Lv Shasha , Chen Xiangsheng
Published: January 2023

Herein, we report the mitochondrial genomic characteristics of three insect pests, Notobitus meleagris, Macropes harringtonae, and Homoeocerus bipunctatus, collected from bamboo plants in Guizhou Province, China. For the first time, the damaged conditions and life histories of M. harringtonae and H. bipunctatus are described in detail and digital photographs of all their life stages are provided. Simultaneously, the mitochondrial genome sequences of three bamboo pests were sequenced and analyzed. Idiocerus laurifoliae and Nilaparvata lugens were used as outgroups, and the phylogenetic trees were constructed. The mitochondrial genomes of the three bamboo pests contained 37 classical genes, including 13 protein-coding genes (PCGs), two ribosomal RNA genes (rRNAs), 22 transfer RNAs (tRNAs), and a control region, with a total length of 16,199 bp, 15,314 bp, and 16,706 bp, respectively. The A+T values of the three bamboo pests were similar, and trnS1 was a cloverleaf structure with missing arms. The phylogenetic analyses, using the Bayesian inference (BI) and Maximum likelihood (ML), supported that N. meleagris and H. bipunctatus belonged to the Coreoidea family, whereas M. harringtonae belonged to the Lygaeoidea family with high support values. This study involves the first complete sequencing of the mitochondrial genomes of two bamboo pests. By adding these newly sequenced mitochondrial genome data and detailed descriptions of life histories, the database of bamboo pests is improved. These data also provide information for the development of bamboo pest control methods by quick identification techniques and the use of detailed photographs.
High Levels of Diversity in Anopheles Subgenus Kerteszia Revealed by Species Delimitation Analyses
Authors: Bourke Brian P. , Wilkerson Richard C. , Ruiz-Lopez Fredy , Justi Silvia A. , Pecor David B. , Quinones Martha L. , Navarro Juan-Carlos , Ormaza Joubert Alarcón , Ormaza Joubert Alarcón , González Ranulfo , Flores-Mendoza Carmen , Castro Fanny , Escovar Jesús E. , Linton Yvonne-Marie
Published: January 2023

The Anopheles subgenus Kerteszia is a poorly understood group of mosquitoes that includes several species of medical importance. Although there are currently twelve recognized species in the subgenus, previous studies have shown that this is likely to be an underestimate of species diversity. Here, we undertake a baseline study of species delimitation using the barcode region of the mtDNA COI gene to explore species diversity among a geographically and taxonomically diverse range of Kerteszia specimens. Beginning with 10 of 12 morphologically identified Kerteszia species spanning eight countries, species delimitation analyses indicated a high degree of cryptic diversity. Overall, our analyses found support for at least 28 species clusters within the subgenus Kerteszia. The most diverse taxon was Anopheles neivai, a known malaria vector, with eight species clusters. Five other species taxa showed strong signatures of species complex structure, among them Anopheles bellator, which is also considered a malaria vector. There was some evidence for species structure within An. homunculus, although the results were equivocal across delimitation analyses. The current study, therefore, suggests that species diversity within the subgenus Kerteszia has been grossly underestimated. Further work will be required to build on this molecular characterization of species diversity and will rely on genomic level approaches and additional morphological data to test these species hypotheses.
COMT but Not 5HTTLPR Gene Is Associated with Depression in First-Episode Psychosis: The Role of Stressful Life Events
Authors: Tosato Sarah , Bonetto Chiara , De Santi Katia , Lasalvia Antonio , Gennarelli Massimo , Cristofalo Doriana , Bertani Mariaelena , Ruggeri Mirella ,   on behalf of the PICOS-Veneto Group
Published: January 2023

Serotonergic and dopaminergic systems are involved in the regulation of mood and reactivity to psychological stress. This study explores, in a sample of first episode psychosis (FEP) patients, whether more severe depressive symptoms were found in those who: (1) experienced a major stressful event in the 6 months preceding illness onset; and (2) were homozygous for the COMT Val158 allele or carrying the S allele of 5-HTTLPR. A total of 186 FEP patients recruited were assessed using the Hamilton Rating Scale for Depression (HAMD) for depressive symptoms. Stressful life events (SLEs) were collected by the List of Events Scale. The genotypes of 5-HTTLPR, rs25531, and COMT Val158 Met were performed. It has been found that higher levels of depression is associated with the presence of SLEs (p = 0.019) and with COMT Val158 allele homozygosity (p = 0.029), but not with carrying the S allele of 5-HTTLPR. The COMT gene moderates the association between depression and SLEs as Val158 allele homozygote patients experiencing SLEs had the highest level of depressive symptoms compared to the others (p = 0.002). The present study provides initial evidence for an effect of the COMT Val158 homozygosity and severe stressful life events on the severity of depressive symptoms in first episode psychosis.
Loss of Heterozygosity in the Circulating Tumor DNA and CD138+ Bone Marrow Cells in Multiple Myeloma
Authors: Soloveva Maiia , Solovev Maksim , Nikulina Elena , Risinskaya Natalya , Biderman Bella , Yakutik Igor , Obukhova Tatiana , Mendeleeva Larisa
Published: January 2023

Multiple myeloma (MM) is characterized by heterogeneity of tumor cells. The study of tumor cells from blood, bone marrow, plasmacytoma, etc., allows us to identify similarities and differences in tumor lesions of various anatomical localizations. The aim of this study was to compare the loss of heterozygosity (LOH) by tumor cells by assessing STR profiles of different MM lesions. We examined paired samples of plasma circulating tumor DNA (ctDNA) and CD138+ bone marrow cells in MM patients. For patients with plasmacytomas (66% of 38 patients included), the STR profile of plasmacytomas was also studied when biopsy samples were available. Diverse patterns of LOH were found in lesions of different localization for most patients. LOH in plasma ctDNA, bone marrow, and plasmacytoma samples was found for 55%, 71%, and 100% of patients, respectively. One could expect a greater variety of STR profiles in aberrant loci for patients with plasmacytomas. This hypothesis was not confirmed—no difference in the frequency of LOH in MM patients with or without plasmacytomas was found. This indicates the genetic diversity of tumor clones in MM, regardless of the presence of extramedullar lesions. Therefore, we conclude that risk stratification based on molecular tests performed solely on bone marrow samples may not be sufficient for all MM patients, including those without plasmacytomas. Due to genetic heterogeneity of MM tumor cells from various lesions, the high diagnostic value of liquid biopsy approaches becomes obvious.
Common Genetic Factors and Pathways in Alzheimer’s Disease and Ischemic Stroke: Evidences from GWAS
Authors: Dong Wei , Huang Yue
Published: January 2023

Alzheimer’s disease (AD) and ischemic stroke (IS) are common neurological disorders, and the comorbidity of these two brain diseases is often seen. Although AD and IS were regarded as two distinct disease entities, in terms of different etiologies and clinical presentation, recent genome-wide association studies (GWASs) revealed that there were common risk genes between AD and IS, indicating common molecular pathways and their common pathophysiology. In this review, we summarize AD and IS risk single nucleotide polymorphisms (SNPs) and their representative genes from the GWAS Catalog database, and find thirteen common risk genes, but no common risk SNPs. Furthermore, the common molecular pathways associated with these risk gene products are summarized from the GeneCards database and clustered into inflammation and immunity, G protein-coupled receptor, and signal transduction. At least seven of these thirteen genes can be regulated by 23 microRNAs identified from the TargetScan database. Taken together, the imbalance of these molecular pathways may give rise to these two common brain disorders. This review sheds light on the pathogenesis of comorbidity of AD and IS, and provides molecular targets for disease prevention, manipulation, and brain health maintenance.
Nonsense-Mediated mRNA Decay as a Mediator of Tumorigenesis
Authors: Nagar Preeti , Islam Md Rafikul , Rahman Mohammad Alinoor
Published: January 2023

Nonsense-mediated mRNA decay (NMD) is an evolutionarily conserved and well-characterized biological mechanism that ensures the fidelity and regulation of gene expression. Initially, NMD was described as a cellular surveillance or quality control process to promote selective recognition and rapid degradation of erroneous transcripts harboring a premature translation-termination codon (PTC). As estimated, one-third of mutated and disease-causing mRNAs were reported to be targeted and degraded by NMD, suggesting the significance of this intricate mechanism in maintaining cellular integrity. It was later revealed that NMD also elicits down-regulation of many endogenous mRNAs without mutations (~10% of the human transcriptome). Therefore, NMD modulates gene expression to evade the generation of aberrant truncated proteins with detrimental functions, compromised activities, or dominant-negative effects, as well as by controlling the abundance of endogenous mRNAs. By regulating gene expression, NMD promotes diverse biological functions during development and differentiation, and facilitates cellular responses to adaptation, physiological changes, stresses, environmental insults, etc. Mutations or alterations (such as abnormal expression, degradation, post-translational modification, etc.) that impair the function or expression of proteins associated with the NMD pathway can be deleterious to cells and may cause pathological consequences, as implicated in developmental and intellectual disabilities, genetic defects, and cancer. Growing evidence in past decades has highlighted NMD as a critical driver of tumorigenesis. Advances in sequencing technologies provided the opportunity to identify many NMD substrate mRNAs in tumor samples compared to matched normal tissues. Interestingly, many of these changes are tumor-specific and are often fine-tuned in a tumor-specific manner, suggesting the complex regulation of NMD in cancer. Tumor cells differentially exploit NMD for survival benefits. Some tumors promote NMD to degrade a subset of mRNAs, such as those encoding tumor suppressors, stress response proteins, signaling proteins, RNA binding proteins, splicing factors, and immunogenic neoantigens. In contrast, some tumors suppress NMD to facilitate the expression of oncoproteins or other proteins beneficial for tumor growth and progression. In this review, we discuss how NMD is regulated as a critical mediator of oncogenesis to promote the development and progression of tumor cells. Understanding how NMD affects tumorigenesis differentially will pave the way for the development of more effective and less toxic, targeted therapeutic opportunities in the era of personalized medicine.
Comparative Proteomic Analysis of Glycolytic and Oxidative Muscle in Pigs
Authors: Tan Xiaofan , He Yu , He Yuqiao , Yan Zhiwei , Chen Jing , Zhao Ruixue , Sui Xin , Zhang Lei , Du Xuehai , Irwin David M. , Zhang Shuyi , Li Bojiang
Published: January 2023

The quality of meat is highly correlated with muscle fiber type. However, the mechanisms via which proteins regulate muscle fiber types in pigs are not entirely understood. In the current study, we have performed proteomic profiling of fast/glycolytic biceps femoris (BF) and slow/oxidative soleus (SOL) muscles and identified several candidate differential proteins among these. We performed proteomic analyses based on tandem mass tags (TMTs) and identified a total of 26,228 peptides corresponding to 2667 proteins among the BF and SOL muscle samples. Among these, we found 204 differentially expressed proteins (DEPs) between BF and SOL muscle, with 56 up-regulated and 148 down-regulated DEPs in SOL muscle samples. KEGG and GO enrichment analyses of the DEPs revealed that the DEPs are involved in some GO terms (e.g., actin cytoskeleton, myosin complex, and cytoskeletal parts) and signaling pathways (PI3K-Akt and NF-kappa B signaling pathways) that influence muscle fiber type. A regulatory network of protein–protein interaction (PPI) between these DEPs that regulates muscle fiber types was constructed, which demonstrates how three down-regulated DEPs, including PFKM, GAPDH, and PKM, interact with other proteins to potentially control the glycolytic process. This study offers a new understanding of the molecular mechanisms in glycolytic and oxidative muscles as well as a novel approach for enhancing meat quality by transforming the type of muscle fibers in pigs.
Application of Tempe Cell to Measure Soil Water Characteristic Curve along with Geotechnical Properties of Oil Sands Tailings
Authors: Kabwe Louis K. , Wilson G. Ward , Beier Nicholas A. , Barsi David
Published: January 2023

The traditional Tempe cell can be used to adequately determine the soil water characteristic curve (SWCC) for soils that do not undergo significant volume change as matric suction is increased, such as coarse-grained material such as sand with a low air entry value (AEV) (<500 kPa). When soils undergo substantial volume change as soil suction increases, such as fine-grained silts, clays, and oil sands tailings material, the soils need to be tested with distinctly different methods involving two apparatuses when using the Tempe cell. A single-step Tempe cell technique was developed and tested to measure the geotechnical and unsaturated properties of oil sands tailings samples. A series of nine Tempe cells were simultaneously used to measure the geotechnical and unsaturated soil properties of untreated fluid fine tailings (FFT) and treated flocculated centrifuged tailings (FCT). The results of the single-step Tempe cell technique provide several useful engineering functions relating matric suction to water content (SWCC), void ratio (volume change), solids content, and undrained shear strength. Both the traditional and single-step Tempe cell techniques yield comparable SWCC results, but the single-step Tempe cell yields result about three times faster than the traditional Tempe cell. The geotechnical results indicate that both the solids content and undrained shear strength of the FCT are greater than those of the untreated FFT and this indicates that flocculation and centrifugation increase solids content and undrained shear strength of the treated samples. Furthermore, the results indicate that the FFT starts at higher fine void ratio than the FCT and loses more water (volume change) at matric suctions lower than 7 kPa. Beyond 7 kPa, the compressions of both samples become the same. The single-step Tempe cell technique is, however, labor-intensive. The number of Tempe cell can be reduced to six depending on the starting load of the test. The use of the single-step Tempe cell technique in providing fast estimates of SWCC and geotechnical properties for oil sands tailings will be attractive to practitioners who intend to incorporate matric suction in oil sands geotechnical engineering problems.
Gastrointestinal Involvement in Primary Antibody Deficiencies
Authors: Milota Tomas , Smetanova Jitka , Klojdova Iveta
Published: January 2023

Primary antibody deficiencies (PADs) are the most frequent group of inborn errors of immunity. Impaired B-cell development, reduced production of immunoglobulins (mainly IgG and IgA), and specific antibodies resulting in recurrent infections are their hallmarks. Infections typically affect the respiratory tract; however, gastrointestinal involvement is also common. These include infection with Helicobacter pylori, Salmonella, Campylobacter species, Giardia, and noroviruses. Impaired IgA production also contributes to dysbiosis and thereby an increase in abundance of species with proinflammatory properties, resulting in immune system dysregulation. Dysregulation of the immune system results in a broad spectrum of non-infectious manifestations, including autoimmune, lymphoproliferative, and granulomatous complications. Additionally, it increases the risk of malignancy, which may be present in more than half of patients with PADs. Higher prevalence is often seen in monogenic causes, and gastrointestinal involvement may clinically mimic various conditions including inflammatory bowel diseases and celiac disease but possess different immunological features and response to standard treatment, which make diagnosis and therapy challenging. The spectrum of malignancies includes gastric cancer and lymphoma. Thus, non-infectious manifestations significantly affect mortality and morbidity. In this overview, we provide a comprehensive insight into the epidemiology, genetic background, pathophysiology, and clinical manifestations of infectious and non-infectious complications.
Development of an Immersive VR Experience Using Integrated Survey Technologies and Hybrid Scenarios
Authors: Gabellone Francesco
Published: January 2023

The paper was aimed to promoting and improving the knowledge of the Naples city’s monuments through an immersive visit experience, according to the paradigms of new digital languages. Thanks to the use of integrated technologies, some monuments of the city are presented in virtual way, with unusual viewpoints, that reveal previously unseen details, many of them not directly visible to tourists. A journey created by the use of integrated technologies, to discover historical facades and museums to be explored in total freedom, without physical constraints, without cognitive barriers. The technological basis supporting the visit consists of integrated solutions including digital photogrammetry, 3D modelling, virtual restoration and persuasive storytelling, all organised to provide a product for the general public, to be enjoyed with VR headsets. The available contents are organised on different reading levels, in according to three paths that include: a visit to the MANN (National Archaeological Museum of Naples), a visit within the virtual room dedicated to the most important museums of the city and a virtual walk through the decumani, the heart of historical centre. The virtual enjoyment of contexts no longer visible in original state or not accessible by tourists is resolved by the virtual reconstruction and re-location of artefacts in a virtual space, here called Virtual Room.
Human Peopling and Population Dynamics in Sicily: Preliminary Analysis of the Craniofacial Morphometric Variation from the Paleolithic to the Contemporary Age
Authors: Lauria Gabriele , Sineo Luca
Published: January 2023

The geographic position, isolation, and the long and dynamic history of colonization created a human context in Sicily that allows for a particular anthropological study; information about “migratory flow” and “population influx” could be investigated in the cranial morphology of a localized geographical region. The research goals are the identification of temporal trends in facial morphology in order to assess the adaptations and the microevolutionary trends and to verify if the cranial morphology of humans was modified by the various genetic contributions and more or less related to the intense and significant migratory flows. This work includes a diachronic morphometrics study of 3D models of 95 Sicilian skulls coming from 19 populations (from the Paleolithic to the Contemporary Age), providing an overview of human biodiversity and variability in Sicily. To achieve this, a geometric morphometrics analysis of the facial features of adult human skulls was performed. The approach used allows for the identification of the main micro-anatomical and micro-evolutionary features. Considering sample size/composition, it has been possible to discriminate between prehistorical and historical populations. The results highlight a series of morphological changes related to different migratory flows that have followed one another with different intensities and effectiveness starting from the Prehistory up to the Contemporary Age. The human peopling of Sicily is a subject of continuous debate; however, this study points to the coexistence of microevolutionary patterns and population dynamics, with the latter being one of the main causes of the morphological variations.
A Survey on Computational and Emergent Digital Storytelling
Authors: Trichopoulos Georgios , Alexandridis Georgios , Caridakis George
Published: January 2023

The research field of digital storytelling is cross-disciplinary and extremely wide. In this paper, methods, frameworks, and tools that have been created for authoring and presenting digital narratives, are selected and examined among hundreds of works. The basic criterion for selecting these works has been their ability to create content by computational, emergent methods. By delving into the work of many researchers, the objective is to study current trends in this research field and discuss possible future directions. Most of the relevant tools and methods have been designed with a specific purpose in mind, but their use could be expanded to other areas of interest or could at least be the steppingstone for other ideas. Therefore, the following works show elements of computational and emergent narrative creation and a classification is proposed according to their purpose of existence. Finally, new potential research directions in the field are identified and possible future research steps are discussed.
Investigation towards Laser Cleaning of Corrosion Products from Lead Objects
Authors: Prokuratov Denis , Samokhvalov Andrey , Pankin Dmitry , Vereshchagin Oleg , Kurganov Nikolai , Povolotckaia Anastasia , Shimko Alexander , Mikhailova Alexandra , Balmashnov Roman , Reveguk Anastasia , Smolyanskaya Olga , Redka Dmitry , Bobrovs Vjaceslavs
Published: January 2023

In this work lasers with micro-, nano-, pico- and femtosecond pulse durations were used to clean atmospheric corrosion products from the fragments of a 19th-century lead outdoor sculpture. The state of the surface was studied by optical microscopy, Raman spectroscopy, X-ray photoelectron spectroscopy and scanning electron microscopy. It was shown that for all lasers used there is no self-limiting cleaning effect, and the metal damage threshold is lower than the corrosion removal threshold. Using the XPS method, it has been demonstrated that the effect of turning a metallic lead surface blue after irradiation is associated with an interference effect in the PbO film. Raman spectroscopy indicated no phase changes in the corrosion layer after laser cleaning with 8 ns, 75 ps and 100 fs pulses, which makes these lasers useful for the layer-by-layer cleaning of archaeological objects.
The Version of the Composition of the Mausoleum-Khanaka Khoja Ahmed Yassawi Main Facade in Turkestan
Authors: Samoilov Konstantin , Kuspangaliyev Bolat , Sadvokasova Gaukhar , Akhmedova Aizhan
Published: January 2023

The problem of preservation, and optimal demonstration of it to local residents and tourists of architectural monuments, is of constant scientific and public interest. Two concepts coexist in dialectical interaction: conservation to preserve the monument in the form in which it has come down to in our times, and restoration of the monument with the restoration of lost details. In each case, one or another decision is made, which finds both supporters and opponents. One of the aspects of this problem is the attitude to buildings that have long breaks in the history of conduct in their construction works. An interesting example of such a monument is the mausoleum-khanaka of Ahmed Yassawi in Turkestan, which remains unfinished. Given its importance for the self-determination of the culture of modern Kazakhstan, it seems appropriate to consider the planned design, which remains unrealized. For the first time, the article suggests, by way of discussion, several options proposed by the authors for solving the main facade of the mausoleum-khanaka and the shape of the central dome.
The Ethiopian Magic Scrolls: A Combined Approach for the Characterization of Inks and Pigments Composition
Authors: Vadrucci Monia , Bussolari Davide , Chiari Massimo , De Rose Claudia , Di Foggia Michele , Mazzinghi Anna , Orazi Noemi , Zanasi Carlotta L. , Cicero Cristina
Published: January 2023

The Ethiopian magic scrolls are traditional parchment artifacts used by the Christians of Ethiopia as protection against disease and demonic possessions. On the occasion of their restoration in the Accademia delle Belle Arti di Bologna (Italy); a preliminary characterization before the treatments has been performed on four Ethiopian scrolls belonging to the Archivio storico della provincia di Cristo Re dei Frati Minori dell’Emilia Romagna of Bologna (Italy). In order to plan an effective preservative restoration procedure and; at the same time; to investigate the manufacturing techniques; the text and the decorations on the magic scrolls were studied and characterized. A combined approach by imaging and compositional techniques was used: Infrared Reflectography (IRR) for the preliminary characterization of the graphic supports and the identification of the points to sample the chemical measurements; and the spectroscopic analyses to clarify the hypothesized investigations and confirm the chemical composition of the inks. In particular; Attenuated Total Reflectance-Fourier Transform Infrared (ATR-FTIR) spectroscopy has provided information relating to the molecular composition of inks and pigments; while a characterization of the constituent elements is obtained with the Ion Beam Analysis (IBA). The ink composition proved to be consistent with data generally documented in the literature and contributing to the expansion of knowledge on Ethiopian magic scrolls and their production.
Alteration of Flower Yield and Phytochemical Compounds of Saffron (Crocus sativus L.) by Application of Different Light Qualities and Growth Regulators
Authors: Eftekhari Mostafa , Javid Majid Ghorbani , Aliniaeifard Sasan , Nicola Silvana
Published: January 2023

Saffron is the world’s most coveted spicy plant that has medicinal value. Currently, due to diverse types of difficulties in growing this plant outdoor, the tendency to produce it indoor has been increased. Optimized indoor conditions for growing saffron plants is not fully determined so far. This study was conducted to investigate the interactive effects of two plant growth regulators (PGRs), including gibberellic acid (GA3) and γ-aminobutyric acid (GABA) and four light recipes, including white, monochromatic blue, monochromatic red, and a combination of 50% red and 50% blue on the flower yield and phytochemical components (such as crocin, picrocrocin and safranal) in stigmas of indoor-grown saffron. The results showed that exogenous GABA application and combined red and blue LED lights enhanced the performance of saffron flowers in terms of the number of flowers (up to 1.97 per corm) as well as the fresh and dry weight of flowers and stigmas. In saffron, the concentration of three major secondary metabolites is of great importance since it determines its commercial, pharmaceutical quality. GABA induced saffron’s chemical ingredients toward the phytochemicals safranal (up to 5.03%) and picrocrocin (up to 15.8%), while GA3 induced them toward the carotenoid pigment crocin (up to 25.1%). In conclusion, the application of GABA with a combination of red and blue lights enhanced the production of high-quality stigmas and positively affected the yield of flowers in saffron plants.
Exogenous Appliance of Nano-Zeolite and Nano-Silicon Elevate Solidago canadensis Invasive Plant Tolerance to Water Deficiency
Authors: Othman Eman Z. , El-Attar Asmaa B. , El-Bahbohy Reham M. , Abd El-Khalek Sarah N. , Morgan Sherif H. , Mahmoud Abdel Wahab M.
Published: January 2023

Plant production, soil quality, and a sustainable environment depend on climate change. Drought is a multidimensional stressor that seriously affects plant production. The most sensitive plant to climate change is the invasive goldenrod (Solidago canadensis L.), which has potentially high-value materials that can be used to develop a novel approach to controlling its spread. This study aimed to evaluate the impact of different applications (NPK-chemical fertilizers (T1) as control, nano-silicon (T2), nano-NPK (T3), nano-zeolite-loaded nitrogen (T4), and mixed nano-silicon with nano-zeolite-loaded nitrogen (T5)) on plant growth, flowering, chemical composition, yield, essential oil (EO) productivity, and tolerance of water deficit under newreclaimed soil. The results show that T5 application enhanced morphological traits and photosynthetic parameters (photosynthetic rate, CO2 concentration, and water use efficiency while reducing transpiration rate) in goldenrod plants. Moreover, it promoted the plant nutrients uptake compared to the control. The highest total carbohydrate, flavonoid, and phenol contents, as well as a significant amount of the phytohormone indole-3-acetic acid (IAA), were obtained from the T5 application. Conversely, abscisic acid (ABA) and antioxidant enzymes of catalase (CAT) and superoxide dismutase (SOD) appeared with the highest amounts in control plants (T1).Th interaction effect of T5 and drought stress is indicated by increased EO productivity and therapeutic properties.Previous results provide a way to elevate drought stress resistance for the safety production of S. canadensis and improve their qualitative and quantitative trials as economical solutions to achieve an environmental approach to control their spread.
Numerical Assessment Tool to Measure Realism in Clinical Simulation
Authors: Coro-Montanet Gleyvis , Pardo Monedero María Jesús , Sánchez Ituarte Julia , Wagner Porto Rocha Helena , Gomar Sancho Carmen
Published: January 2023

Realism is indispensable in clinical simulation learning, and the objective of this work is to present to the scientific community the methodology behind a novel numerical and digital tool to objectively measure realism in clinical simulation. Indicators measuring accuracy and naturality constitute ProRealSim v.1.0 (Universidad Europea, Madrid, Spain) which allows the assessing of attained realism for three dimensions: simulated participant, scenography, and simulator. Twelve experts in simulation-based learning (SBL) analyzed the conceptual relevance of 73 initial qualitative indicators that were then reduced to 53 final indicators after a screening study evaluating eight medical clinical simulation scenarios. Inter- and intra-observer concordance, correlation, and internal consistency were calculated, and an exploratory factorial analysis was conducted. Realism units were weighted based on variability and its mathematical contribution to global and dimensional realism. A statistical significance of p < 0.05 was applied and internal consistency was significant in all cases (raw_alpha ≥ 0.9698094). ProRealSim v.1.0 is integrated into a bilingual, free, and open access digital platform, and the intention is to foster a culture of interpretation of realism for its better study and didactic use.
Long-Term Vegetation Changes and Socioeconomic Effects of River Engineering in Industrialized Areas (Southern Poland)
Authors: Rahmonov Oimahmad , Dragan Weronika , Cabała Jerzy , Krzysztofik Robert
Published: January 2023

The exploitation of mineral resources associated with human mining activities leads to the degradation of both terrestrial and aquatic biocenotic systems. The drastic disturbance of water relations as a result of the relocation of the riverbed of the Biala Przemsza River (southern Poland) for coal and filler sand mining will lead to changes in plant ecosystems. The purpose of this study was to determine and compare the diversity and distribution of vegetation in the Biała Przemsza valley in sections of channel straightening with the old riverbed and areas undisturbed by engineering works against the background of land use in temporal and spatial aspects. The results of the ecological and phytosociological studies showed that the composition of flora and vegetation types varied. Within the transformed riverbed, anthropogenic mixed forests with species characteristic of different ecological systems are developing, whereas the non-regulated section of the river is overgrown by an alder riparian forest with an almost complete species composition for this plant community. The highest Simpson’s biodiversity index was found in the anthropogenically disturbed section of the river (0.86), and in the undisturbed section, it was 0.83. Both sections of the river were dominated by species of the family Compositae, Poaceae, Caryophyllaceae, Rosaceae and Apiaceae. The diversity of the flora in the transformed sections of the valley is determined by the presence of mosaics and microhabitats, as well as the nature of the surrounding vegetation, which is reflected in the ecological requirements of the flora concerning light preference (moderate light [56.25%]), and almost 90% of the flora from the area of the regulated section of the valley develops on humus-poor and mineral-humus soils. Although this area has lost its original natural function, it is now valuable for selected economic and social functions, especially in highly urbanized regions.
Can an Aerobic Exercise Programme Improve the Response of the Growth Hormone in Fibromyalgia Patients? A Randomised Controlled Trial
Authors: Estrada-Marcén Nerea C. , Casterad-Seral Jaime , Montero-Marin Jesus , Serrano-Ostáriz Enrique
Published: January 2023

Downgrade alterations in the growth hormone (GH) might be involved in the development of some of the fibromyalgia syndrome (FMS) symptoms. Our aim was to assess the effects of an aerobic exercise programme on the GH levels in patients with FMS. A randomised controlled trial was developed. Sixty-four Spanish women with FMS were randomly assigned to the experimental arm (n = 33) and treated with a 16-week group physical exercise programme based on low impact aerobic dance (three weekly sessions, one-hour each), or to the treatment-as-usual (TAU) control arm (n = 31). The primary outcome was the GH response to acute exercise. Secondary outcomes were GH basal, sensitivity to pain, body composition, aerobic capacity, and quality of life. The ANCOVA results showed a moderate effect of treatment improving the GH response to acute exercise. Other effects were substantial for aerobic capacity, quality of life, and body composition. Pre-intervention GH response to acute exercise was related to improvements in aerobic capacity and quality of life. An aerobic exercise programme may improve the response of the GH, aerobic capacity, body composition, and quality of life in women with FMS. The normalization of neuro-hormonal patterns involving the GH might be key for improving some FMS symptoms.
Effects of a Smartphone-Based, Multisession Interpretation-Bias Modification for Anxiety: Positive Intervention Effects and Low Attrition
Authors: Hoid Delhii , Pan Dong-Ni , Liao Chun , Li Xuebing
Published: January 2023

While interpretation-bias modification (IBM) is an effective intervention for treating anxiety, it is not broadly used in clinical or daily practice. To this end, this study developed and tested a smartphone-based IBM application. We adopted the ambiguous situation paradigm as an intervention task in conjunction with robust training materials that broadly covered situations encountered in daily life. We recruited participants with high-trait anxiety and divided them into three groups: (1) positive training; (2) 50% positive–50% negative training; and (3) no-training control. The first two groups completed 28 days of smartphone-based training (IBM in positive cases), and all groups completed six rounds of assessments. The smartphone-based IBM training changed positive and negative endorsements and more specific measures of interpretation bias, thus reducing anxiety. The results also showed that changes in the number of negative interpretations played a mediating role in anxiety reduction. It is notable that the attrition rate was extremely low across the experiment. Our follow-up showed that positive gains persisted throughout the intervening period. Smartphone-based IBM can help individuals with anxiety shift negative biases, broaden their thoughts, enhance their information processing, and effectively target the clinical features of anxiety.