bluuebunny/crossref_metadata_2025 huggingface dataset:
Genome-Wide Association Mapping for Heat and Drought Adaptive Traits in Pea
Authors: Tafesse Endale G. , Gali Krishna K. , Lachagari V. B. Reddy , Bueckert Rosalind , Warkentin Thomas D.
Published: November 2021

Heat and drought, individually or in combination, limit pea productivity. Fortunately, substantial genetic diversity exists in pea germplasm for traits related to abiotic stress resistance. Understanding the genetic basis of resistance could accelerate the development of stress-adaptive cultivars. We conducted a genome-wide association study (GWAS) in pea on six stress-adaptive traits with the aim to detect the genetic regions controlling these traits. One hundred and thirty-five genetically diverse pea accessions were phenotyped in field studies across three or five environments under stress and control conditions. To determine marker trait associations (MTAs), a total of 16,877 valuable single nucleotide polymorphisms (SNPs) were used in association analysis. Association mapping detected 15 MTAs that were significantly (p ≤ 0.0005) associated with the six stress-adaptive traits averaged across all environments and consistent in multiple individual environments. The identified MTAs were four for lamina wax, three for petiole wax, three for stem thickness, two for the flowering duration, one for the normalized difference vegetation index (NDVI), and two for the normalized pigment and chlorophyll index (NPCI). Sixteen candidate genes were identified within a 15 kb distance from either side of the markers. The detected MTAs and candidate genes have prospective use towards selecting stress-hardy pea cultivars in marker-assisted selection.
Nucleic Acid-Sensing and Interferon-Inducible Pathways Show Differential Methylation in MZ Twins Discordant for Lupus and Overexpression in Independent Lupus Samples: Implications for Pathogenic Mechanism and Drug Targeting
Authors: Marion Miranda C. , Ramos Paula S. , Bachali Prathyusha , Labonte Adam C. , Zimmerman Kip D. , Ainsworth Hannah C. , Heuer Sarah E. , Robl Robert D. , Catalina Michelle D. , Kelly Jennifer A. , Howard Timothy D. , Lipsky Peter E. , Grammer Amrie C. , Langefeld Carl D.
Published: November 2021

Systemic lupus erythematosus (SLE) is a chronic, multisystem, autoimmune inflammatory disease with genomic and non-genomic contributions to risk. We hypothesize that epigenetic factors are a significant contributor to SLE risk and may be informative for identifying pathogenic mechanisms and therapeutic targets. To test this hypothesis while controlling for genetic background, we performed an epigenome-wide analysis of DNA methylation in genomic DNA from whole blood in three pairs of female monozygotic (MZ) twins of European ancestry, discordant for SLE. Results were replicated on the same array in four cell types from a set of four Danish female MZ twin pairs discordant for SLE. Genes implicated by the epigenetic analyses were then evaluated in 10 independent SLE gene expression datasets from the Gene Expression Omnibus (GEO). There were 59 differentially methylated loci between unaffected and affected MZ twins in whole blood, including 11 novel loci. All but two of these loci were hypomethylated in the SLE twins relative to the unaffected twins. The genes harboring these hypomethylated loci exhibited increased expression in multiple independent datasets of SLE patients. This pattern was largely consistent regardless of disease activity, cell type, or renal tissue type. The genes proximal to CpGs exhibiting differential methylation (DM) in the SLE-discordant MZ twins and exhibiting differential expression (DE) in independent SLE GEO cohorts (DM-DE genes) clustered into two pathways: the nucleic acid-sensing pathway and the type I interferon pathway. The DM-DE genes were also informatically queried for potential gene–drug interactions, yielding a list of 41 drugs including a known SLE therapy. The DM-DE genes delineate two important biologic pathways that are not only reflective of the heterogeneity of SLE but may also correlate with distinct IFN responses that depend on the source, type, and location of nucleic acid molecules and the activated receptors in individual patients. Cell- and tissue-specific analyses will be critical to the understanding of genetic factors dysregulating the nucleic acid-sensing and IFN pathways and whether these factors could be appropriate targets for therapeutic intervention.
Epithelial–Mesenchymal Transition Signaling and Prostate Cancer Stem Cells: Emerging Biomarkers and Opportunities for Precision Therapeutics
Authors: Chaves Luiz Paulo , Melo Camila Morais , Saggioro Fabiano Pinto , Reis Rodolfo Borges dos , Squire Jeremy Andrew
Published: November 2021

Prostate cancers may reactivate a latent embryonic program called the epithelial–mesenchymal transition (EMT) during the development of metastatic disease. Through EMT, tumors can develop a mesenchymal phenotype similar to cancer stem cell traits that contributes to metastasis and variation in therapeutic responses. Some of the recurrent somatic mutations of prostate cancer affect EMT driver genes and effector transcription factors that induce the chromatin- and androgen-dependent epigenetic alterations that characterize castrate-resistant prostate cancer (CRPC). EMT regulators in prostate cancer comprise transcription factors (SNAI1/2, ZEB1, TWIST1, and ETS), tumor suppressor genes (RB1, PTEN, and TP53), and post-transcriptional regulators (miRNAs) that under the selective pressures of antiandrogen therapy can develop an androgen-independent metastatic phenotype. In prostate cancer mouse models of EMT, Slug expression, as well as WNT/β-Catenin and notch signaling pathways, have been shown to increase stemness potential. Recent single-cell transcriptomic studies also suggest that the stemness phenotype of advanced prostate cancer may be related to EMT. Other evidence correlates EMT and stemness with immune evasion, for example, activation of the polycomb repressor complex I, promoting EMT and stemness and cytokine secretion through RB1, TP53, and PRC1. These findings are helping clinical trials in CRPC that seek to understand how drugs and biomarkers related to the acquisition of EMT can improve drug response.
Gene Regulation Analysis Reveals Perturbations of Autism Spectrum Disorder during Neural System Development
Authors: Li Dan , Xu Joshua , Yang Mary Qu
Published: November 2021

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that impedes patients’ cognition, social, speech and communication skills. ASD is highly heterogeneous with a variety of etiologies and clinical manifestations. The prevalence rate of ASD increased steadily in recent years. Presently, molecular mechanisms underlying ASD occurrence and development remain to be elucidated. Here, we integrated multi-layer genomics data to investigate the transcriptome and pathway dysregulations in ASD development. The RNA sequencing (RNA-seq) expression profiles of induced pluripotent stem cells (iPSCs), neural progenitor cells (NPCs) and neuron cells from ASD and normal samples were compared in our study. We found that substantially more genes were differentially expressed in the NPCs than the iPSCs. Consistently, gene set variation analysis revealed that the activity of the known ASD pathways in NPCs and neural cells were significantly different from the iPSCs, suggesting that ASD occurred at the early stage of neural system development. We further constructed comprehensive brain- and neural-specific regulatory networks by incorporating transcription factor (TF) and gene interactions with long 5 non-coding RNA(lncRNA) and protein interactions. We then overlaid the transcriptomes of different cell types on the regulatory networks to infer the regulatory cascades. The variations of the regulatory cascades between ASD and normal samples uncovered a set of novel disease-associated genes and gene interactions, particularly highlighting the functional roles of ELF3 and the interaction between STAT1 and lncRNA ELF3-AS 1 in the disease development. These new findings extend our understanding of ASD and offer putative new therapeutic targets for further studies.
Adiponectin Gene Polymorphism (rs17300539) Has No Influence on the Occurrence of Metabolic Syndrome in Women with Polycystic Ovary Syndrome
Authors: Nowak Izabela , Ciećwież Sylwester , Łój Beata , Brodowski Jacek , Brodowska Agnieszka
Published: November 2021

Adiponectin (rs17300539) is implicated in the pathogenesis of metabolic syndrome (MS), a common comorbidity of polycystic ovarian syndrome (PCOS). The aim of this study was to analyze the association between adiponectin gene polymorphism and incidence of MS in patients with PCOS. The study included 201 women (age 18 to 35 years), among them 81 patients with PCOS without concomitant MS, 70 subjects with PCOS and concomitant, and 50 regularly menstruating controls. Adiponectin gene polymorphism (11391 G/A, rs17300539) was determined by means of a real-time PCR. The study groups did not differ significantly in terms of their age and frequencies of various genotypes of the adiponectin gene polymorphism. The largest proportion in the whole group was Caucasian women (n = 178, 88.56%), who carried the GG genotype of the polymorphism; frequencies of GA and AA genotypes in the whole study group were 10.94% (n = 22) and 0.5% (n = 1), respectively. The presence of G or A allele of the rs17300539 adiponectin gene polymorphism was not associated with a greater likelihood of PCOS with/without concomitant MS. The hereby presented findings imply that MS is a common comorbidity in women with PCOS. However, the incidence of concomitant MS does not seem to be associated with adiponectin gene polymorphism.
Genetic Polymorphism and Natural Selection of Apical Membrane Antigen-1 in Plasmodium falciparum Isolates from Vietnam
Authors: Kang Jung-Mi , Lê Hương Giang , Võ Tuấn Cường , Naw Haung , Yoo Won Gi , Sohn Woon-Mok , Trinh Nguyen Thi Minh , Quang Huynh-Hong , Na Byoung-Kuk
Published: November 2021

Apical membrane antigen-1 of Plasmodium falciparum (PfAMA-1) is a leading malaria vaccine candidate antigen. However, the genetic diversity of pfama-1 and associated antigenic variation in global P. falciparum field isolates are major hurdles to the design of an efficacious vaccine formulated with this antigen. Here, we analyzed the genetic structure and the natural selection of pfama-1 in the P. falciparum population of Vietnam. A total of 37 distinct haplotypes were found in 131 P. falciparum Vietnamese isolates. Most amino acid changes detected in Vietnamese pfama-1 were localized in the ectodomain, domains I, II, and III. Overall patterns of major amino acid changes in Vietnamese pfama-1 were similar to those of global pfama-1, but the frequencies of the amino acid changes slightly differed by country. Novel amino acid changes were also identified in Vietnamese pfama-1. Vietnamese pfama-1 revealed relatively lower genetic diversity than currently analyzed pfama-1 in other geographical regions, and suggested a distinct genetic differentiation pattern. Evidence for natural selection was detected in Vietnamese pfama-1, but it showed purifying selection unlike the global pfama-1 analyzed so far. Recombination events were also found in Vietnamese pfama-1. Major amino acid changes that were commonly identified in global pfama-1 were mainly localized to predicted B-cell epitopes, RBC-binding sites, and IUR regions. These results provide important information for understanding the genetic nature of the Vietnamese pfama-1 population, and have significant implications for the design of a vaccine based on PfAMA-1.
Transcriptomics Analysis of Lens from Patients with Posterior Subcapsular Congenital Cataract
Authors: Lin Xiaolei , Li Hongzhe , Yang Tianke , Liu Xin , Fan Fan , Zhou Xiyue , Luo Yi
Published: November 2021

To gain insight into the aetiology of posterior subcapsular congenital cataract from the perspective of transcriptional changes, we conducted an mRNA sequencing analysis of the lenses in posterior subcapsular congenital cataract patients and in normal children. There were 1533 differentially expressed genes from 19,072 genes in the lens epithelial cells of the posterior subcapsular congenital cataract patients compared to in the normal controls at a cut-off criteria of |log2 fold change| of >1 and a p-value of <0.05, including 847 downregulated genes and 686 upregulated genes. To further narrow down the DEGs, we utilised the stricter criteria of |log2 fold change| of >1 and an FDR value of <0.05, and we identified 551 DEGs, including 97 upregulated genes and 454 downregulated genes. This study also identified 1263 differentially expressed genes of the 18,755 genes in lens cortex and nuclear fibres, including 646 downregulated genes and 617 upregulated genes. The downregulated genes in epithelial cells were significantly enriched in the structural constituent of lenses, lens development and lens fibre cell differentiation. After filtering the DEGs using the databases iSyTE and Cat-Map, several high-priority candidate genes related to posterior subcapsular congenital cataract such as GRIFIN, HTRA1 and DAPL1 were identified. The findings of our study may provide a deeper understanding of the mechanisms of posterior subcapsular congenital cataract and help in the prevention and treatment of this disease.
Metabolite Genome-Wide Association Study for Indoleamine 2,3-Dioxygenase Activity Associated with Chronic Kidney Disease
Authors: Kim Hye-Rim , Jin Hyun-Seok , Eom Yong-Bin
Published: November 2021

Chronic kidney disease (CKD) causes progressive damage to kidney function with increased inflammation. This process contributes to complex amino acid changes. Indoleamine 2,3-dioxygenase (IDO) has been proposed as a new biomarker of CKD in previous studies. In our research, we performed a metabolite genome-wide association study (mGWAS) to identify common and rare variants associated with IDO activity in a Korean population. In addition, single-nucleotide polymorphisms (SNPs) selected through mGWAS were further analyzed for associations with the estimated glomerular filtration rate (eGFR) and CKD. A total of seven rare variants achieved the genome-wide significance threshold (p < 1 × 10−8). Among them, four genes (TNFRSF19, LOC105377444, LOC101928535, and FSTL5) associated with IDO activity showed statistically significant associations with eGFR and CKD. Most of these rare variants appeared specifically in an Asian geographic region. Furthermore, 15 common variants associated with IDO activity were detected in this study and five novel genes (RSU1, PDGFD, SNX25, LOC107984031, and UBASH3B) associated with CKD and eGFR were identified. This study discovered several loci for IDO activity via mGWAS and provided insight into the underlying mechanisms of CKD through association analysis with CKD. To the best of our knowledge, this is the first study to suggest a genetic link between IDO activity and CKD through comparative and integrated analysis.
Genome-Wide Identification of the Q-type C2H2 Transcription Factor Family in Alfalfa (Medicago sativa) and Expression Analysis under Different Abiotic Stresses
Authors: Pu Jun , Li Mingyu , Mao Pei , Zhou Qiang , Liu Wenxian , Liu Zhipeng
Published: November 2021

Q-type C2H2 zinc-finger protein (C2H2-ZFP) transcription factors are associated with many plant growth development and environmental stress responses. To date, there have been few analyses of the Q-type C2H2-ZFP gene family in alfalfa (Medicago sativa subsp. sativa). In this study, we identified 58 Q-type C2H2-ZFPs across the entire alfalfa genome, and the gene structure, motif composition, chromosomal mapping, and cis-regulatory elements were explored, as well as the expression profiles of specific tissues and the response under different abiotic stresses. According to their phylogenetic features, these 58 MsZFPs were divided into 12 subgroups. Synteny analysis showed that duplication events play a vital role in the expansion of the MsZFP gene family. The collinearity results showed that a total of 26 and 42 of the 58 MsZFP genes were homologous with Arabidopsis and M. truncatula, respectively. The expression profiles showed that C2H2-ZFP genes played various roles in different tissues and abiotic stresses. The results of subsequent quantitative real-time polymerase chain reaction (qRT-PCR) showed that the nine selected MsZFP genes were rapidly induced under different abiotic stresses, indicating that C2H2-ZFP genes are closely related to abiotic stress. This study provides results on MsZFP genes, their response to various abiotic stresses, and new information on the C2H2 family in alfalfa.
The Effects of Sequence Length and Composition of Random Sequence Peptides on the Growth of E. coli Cells
Authors: Castro Johana F. , Tautz Diethard
Published: November 2021

We study the potential for the de novo evolution of genes from random nucleotide sequences using libraries of E. coli expressing random sequence peptides. We assess the effects of such peptides on cell growth by monitoring frequency changes in individual clones in a complex library through four serial passages. Using a new analysis pipeline that allows the tracing of peptides of all lengths, we find that over half of the peptides have consistent effects on cell growth. Across nine different experiments, around 16% of clones increase in frequency and 36% decrease, with some variation between individual experiments. Shorter peptides (8–20 residues), are more likely to increase in frequency, longer ones are more likely to decrease. GC content, amino acid composition, intrinsic disorder, and aggregation propensity show slightly different patterns between peptide groups. Sequences that increase in frequency tend to be more disordered with lower aggregation propensity. This coincides with the observation that young genes with more disordered structures are better tolerated in genomes. Our data indicate that random sequences can be a source of evolutionary innovation, since a large fraction of them are well tolerated by the cells or can provide a growth advantage.
TNFA and IL10 Polymorphisms and IL-6 and IL-10 Levels Influence Disease Severity in Influenza A(H1N1)pdm09 Virus Infected Patients
Authors: Alagarasu Kalichamy , Kaushal Himanshu , Shinde Pooja , Kakade Mahadeo , Chaudhary Urmila , Padbidri Vikram , Sangle Shashikala A. , Salvi Sonali , Bavdekar Ashish R. , D’costa Pradeep , Choudhary Manohar Lal
Published: November 2021

Cytokines are key modulators of immune response, and dysregulated production of proinflammatory and anti-inflammatory cytokines contributes to the pathogenesis of influenza A(H1N1)pdm09 virus infection. Cytokine production is impacted by single nucleotide polymorphisms (SNPs) in the genes coding for them. In the present study, SNPs in the IL6, TNFA, IFNG, IL17A, IL10, and TGFB were investigated for their association with disease severity and fatality in influenza A(H1N1)pdm09-affected patients with mild disease (n = 293) and severe disease (n = 86). Among those with severe disease, 41 patients had fatal outcomes. In a subset of the patients, levels of IL-2, IL-4, IL-6, IL-10, TNF, IFN-γ, and IL-17 were assayed in the plasma for their association with severe disease. The frequency of TNFA rs1800629 G/A allele was significantly higher in severe cases and survived severe cases group compared to that of those with mild infection (OR with 95% for mild vs. severe cases 2.95 (1.52–5.73); mild vs. survived severe cases 4.02 (1.84–8.82)). IL10 rs1800896-rs1800872 G-C haplotype was significantly lower (OR with 95% 0.34 (0.12–0.95)), while IL10 rs1800896-rs1800872 G-A haplotype was significantly higher (OR with 95% 12.11 (2.23–76.96)) in fatal cases group compared to that of the mild group. IL-6 and IL-10 levels were significantly higher in fatal cases compared to that of survived severe cases. IL-6 levels had greater discriminatory power than IL-10 to predict progression to fatal outcome in influenza A(H1N1)pdm09 virus-infected patients. To conclude, the present study reports the association of TNFA and IL10 SNPs with severe disease in Influenza A(H1N1)pdm09 virus-infected subjects. Furthermore, IL-6 levels can be a potential biomarker for predicting fatal outcomes in Influenza A(H1N1)pdm09 virus infected subjects.
BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report
Authors: Pepe Francesco , Pisapia Pasquale , Russo Gianluca , Nacchio Mariantonia , Pallante Pierlorenzo , Vigliar Elena , De Angelis Carmine , Insabato Luigi , Bellevicine Claudio , De Placido Sabino , Troncone Giancarlo , Malapelle Umberto
Published: November 2021

High-grade serous ovarian carcinoma (HGSOC) is the most common subtype of all ovarian carcinomas. HGSOC harboring BRCA1/2 germline or somatic mutations are sensitive to the poly (adenosine diphosphate-ribose) polymerase inhibitors (PARPi). Therefore, detecting these mutations is crucial to identifying patients for PARPi-targeted treatment. In the clinical setting, next generation sequencing (NGS) has proven to be a reliable diagnostic approach BRCA1/2 molecular evaluation. Here, we review the results of our BRCA1/2 NGS analysis obtained in a year and a half of diagnostic routine practice. BRCA1/2 molecular NGS records of HGSOC patients were retrieved from our institutional archive covering the period from January 2020 to September 2021. NGS analysis was performed on the Ion S5™ System (Thermo Fisher Scientific, Waltham, MA, USA) with the Oncomine™ BRCA Research Assay panel (Thermo Fisher Scientific). Variants were classified as pathogenic or likely pathogenic according to the guidelines of the American College of Medical Genetics and Genomics by using the inspection of Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and ClinVar (NCBI) databases. Sixty-five HGSOC patient samples were successfully analyzed. Overall, 11 (16.9%) out of 65 cases harbored a pathogenic alteration in BRCA1/2, in particular, six BRCA1 and five BRCA2 pathogenic variations. This study confirms the efficiency and high sensitivity of NGS analysis in detecting BRCA1/2 germline or somatic variations in patients with HGSOC.
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
Authors: Dudakova Lubica , Skalicka Pavlina , Davidson Alice E. , Sadan Amanda N. , Chylova Monika , Jahnova Helena , Anteneova Nicole , Tesarova Marketa , Honzik Tomas , Liskova Petra
Published: November 2021

The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA was extracted from blood and exome sequencing was performed. Non-coding gene regions implicated in corneal endothelial dystrophies were screened by Sanger sequencing. In addition, a repeat expansion situated within an intron of TCF4 (termed CTG18.1) was genotyped using the short tandem repeat assay. The diagnosis of KSS spectrum was based on the presence of ptosis, chronic progressive external ophthalmoplegia, pigmentary retinopathy, hearing loss, and muscle weakness, which were further supported by the detection of ~6.5 kb mtDNA deletion. At the age of 33 years, the proband’s best corrected visual acuity was reduced to 0.04 in the right eye and 0.2 in the left eye. Rare ocular findings included marked corneal oedema with central corneal thickness of 824 and 844 µm in the right and left eye, respectively. No pathogenic variants in the genes, which are associated with corneal endothelial dystrophies, were identified. Furthermore, the CTG18.1 genotype was 12/33, which exceeds a previously determined critical threshold for toxic RNA foci appearance in corneal endothelial cells.
U-Pb Age and Hf Isotope Systematics of Zircon from Eclogite Xenoliths in Devonian Kimberlites: Preliminary Data on the Archaean Roots in the Junction Zone between the Sarmatian and Fennoscandian Segments of the East European Platform
Authors: Shumlyanskyy Leonid , Tsymbal Stepan , Kusiak Monika A. , Wilde Simon A. , Nemchin Alexander A. , Tarasko Iryna , Shumlianska Liudmyla , Hofmann Mandy
Published: November 2021

The results of a laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS) U–Pb dating and a Hf isotope study of zircon crystals separated from small eclogite xenoliths found in Devonian kimberlites within the Prypyat horst, Ukraine, have been reported. The studied area is located in the junction zone between the Sarmatian and Fennoscandian segments of the East European Platform. Four laser ablation sites on two zircon grains yielded Paleoproterozoic U–Pb ages between 1954 ± 24 and 1735 ± 54 Ma. In contrast, three of four Hf sites revealed negative εHf values and Paleoarchean to Mesoarchean model ages, excluding the possibility that the eclogite xenoliths represented segments of a juvenile Paleoproterozoic subducted slab or younger mafic melts crystallized in the subcontinental lithospheric mantle. A single laser ablation Hf spot yielded a positive εHf value (+3) and a Paleoproterozoic model age. Two models for eclogite origin can be proposed. The first foresees the extension of the Archean lower-crustal or lithospheric roots beneath the Sarmatia–Fennoscandia junction zone for over 200 km from the nearest known outcrop of Archean rocks in the Ukrainian Shield. The second model is that the Central Belarus Suture Zone represents a rifted-out fragment of the Kola–Karelian craton that was accreted to Sarmatia before the actual collision of these two segments of Baltica.
Stressful Life Events and Life Satisfaction among Chinese Older Adults: The Role of Coping Styles
Authors: Ren Qiang , Jiang Chaoxin , Jiang Shan
Published: November 2021

This study aims to investigate the mediating effect of coping styles in the relationship between stressful life events and life satisfaction among Chinese older adults. To test the hypotheses, cross-sectional data (n = 8799) from the 2016 China Longitudinal Aging Social Survey (CLASS) were analyzed by Stata 15/SE in this study. Results indicated that stressful life events directly affected life satisfaction. Moreover, the association between stressful life events and life satisfaction was partially mediated by coping styles. This study had implications for the current body of knowledge and provided empirical evidence for social work practice and social policy.
Effect of Cycle-Based High-Intensity Interval Training and Moderate to Moderate-Intensity Continuous Training in Adolescent Soccer Players
Authors: Fang Bin , Kim Yonghwan , Choi Moonyoung
Published: November 2021

Cardiorespiratory fitness, anaerobic power, and lower extremity strength are essential for soccer players at all levels. An effective program should be developed to improve physical strength for adolescent soccer players who need to combine academic and technical training. This study analyzed the impact of short-term high intensity interval training (HIIT) training and traditional moderate intensity continuous training (MICT) on adolescent soccer players. Participants included 56 adolescent soccer players who were divided into HIIT and MICT groups. The training program was conducted 3 times a week for 4 weeks using cycle ergometer. Each session included the same resistance training program, and the characteristics of HIIT and MICT were applied to improve cardiorespiratory fitness and anaerobic power. Body composition analysis, graded exercise test for peak oxygen uptake (VO2 peak), Wingate anaerobic power test, and isokinetic knee strength test were performed. VO2 peak was improved in HIIT and MICT, but anaerobic threshold and heart rate recovery significantly improved in the HIIT group. Wingate anaerobic peak power had increased significantly in sets 1, 2, and 3 in the HIIT group, but showed significant improvement only in set 1 in the MICT group. The isokinetic strength improved significantly in the HIIT group at 60°/s and in the MICT group at 240°/s. There was no significant change in body composition in either group. In conclusion, short-term HIIT administered to adolescent soccer players effectively improved cardiorespiratory fitness in HIIT and MICT groups. While HIIT increased anaerobic threshold and power, MICT effectively improved muscle endurance. Short-term intensive training can be considered a time-efficient training strategy.
DeepDRG: Performance of Artificial Intelligence Model for Real-Time Prediction of Diagnosis-Related Groups
Authors: Islam Md. Mohaimenul , Li Guo-Hung , Poly Tahmina Nasrin , Li Yu-Chuan (Jack)
Published: November 2021

Nowadays, the use of diagnosis-related groups (DRGs) has been increased to claim reimbursement for inpatient care. The overall benefits of using DRGs depend upon the accuracy of clinical coding to obtain reasonable reimbursement. However, the selection of appropriate codes is always challenging and requires professional expertise. The rate of incorrect DRGs is always high due to the heavy workload, poor quality of documentation, and lack of computer assistance. We therefore developed deep learning (DL) models to predict the primary diagnosis for appropriate reimbursement and improving hospital performance. A dataset consisting of 81,486 patients with 128,105 episodes was used for model training and testing. Patients’ age, sex, drugs, diseases, laboratory tests, procedures, and operation history were used as inputs to our multiclass prediction model. Gated recurrent unit (GRU) and artificial neural network (ANN) models were developed to predict 200 primary diagnoses. The performance of the DL models was measured by the area under the receiver operating curve, precision, recall, and F1 score. Of the two DL models, the GRU method, had the best performance in predicting the primary diagnosis (AUC: 0.99, precision: 83.2%, and recall: 66.0%). However, the performance of ANN model for DRGs prediction achieved AUC of 0.99 with a precision of 0.82 and recall of 0.57. The findings of our study show that DL algorithms, especially GRU, can be used to develop DRGs prediction models for identifying primary diagnosis accurately. DeepDRGs would help to claim appropriate financial incentives, enable proper utilization of medical resources, and improve hospital performance.
Nursing Students’ Informal Learning of Patient Safety Management Activities
Authors: Kim Nam-Yi
Published: November 2021

Nursing students require experience in patient safety management to prevent accidents that compromise patient safety. This study examined the mediating effects of informal learning on nursing students’ patient safety management activities. Responses to questionnaires issued to 136 nursing students in South Korea were analyzed. The independent, mediating, and dependent variables used were nursing competencies, informal learning, and patient safety management activities, respectively. Concept validity and model fitness were confirmed using average variance extracted and composite reliability. Model fitness was confirmed using the goodness-of-fit index, normed fit index, Tucker–Lewis index, comparative fit index, and standardized root mean squared residual. The mediating effect was analyzed using the maximum likelihood method, and statistical significance was assessed through bootstrapping. Informal learning mediated the relationship between nursing competence and patient safety management activities. To improve the implementation of patient safety management activities and increase patient safety competence, learning and teaching of specific patient safety-related knowledge, skills, and attitudes need to be improved. For this, informal learning opportunities (e.g., simulation education and clinical practice) must be increased in the nursing curriculum, and the patient safety education capacity should be increased to maintain continuity and connectivity in clinical practice.
Cognitive Aid for Anesthetic Preparation in An Emergency Situation: A Simulation-Based Study
Authors: Rineau Emmanuel , Collard Anna , Jean Lorine , Guérin Sarah , Maunoury Louise , Martin Ludovic , Lasocki Sigismond , Léger Maxime
Published: November 2021

When anesthesia checklists and preparations are performed urgently, omissions may occur and be deleterious to the patient. The aim of this study was to evaluate in simulation the interest of a cognitive aid to effectively prepare an anesthetic room for an emergency. In a prospective single-center simulation-based study, 32 anesthesia residents had to prepare an anesthetic room in an emergency scenario, without cognitive aid in the first phase. Three months later (phase 2), they were randomly assigned to receive a cognitive aid (aid group) or no additional aid (control) and were involved in the same scenario. The primary outcome was the validation rate of each essential item in the first 5 min in phase 2. Eight items were significantly more frequently completed in the first 5 min in the aid group in phase 2 (vs. phase 1), compared with two only in the control group. However, there were no significant differences in the overall number of completed items between the two groups, as both groups completed significantly more items in phase 2, either in the first 5 min (19 (14–23) vs. 13 (9–15) in phase 1 for all residents, p < 0.001) or without time limit. Preparation times were reduced in phase 2 in both groups. In conclusion, the use of a cognitive aid allowed anesthesia residents to complete some safety items of a simulated urgent anesthesia preparation more frequently. In addition, despite daily clinical experience, a single simulation session improved anesthesia preparation and reduced the preparation time with or without cognitive aid.
Real-World Evidence of COVID-19 Patients’ Data Quality in the Electronic Health Records
Authors: Binkheder Samar , Asiri Mohammed Ahmed , Altowayan Khaled Waleed , Alshehri Turki Mohammed , Alzarie Mashhour Faleh , Aldekhyyel Raniah N. , Almaghlouth Ibrahim A. , Almulhem Jwaher A.
Published: November 2021

Despite the importance of electronic health records data, less attention has been given to data quality. This study aimed to evaluate the quality of COVID-19 patients’ records and their readiness for secondary use. We conducted a retrospective chart review study of all COVID-19 inpatients in an academic healthcare hospital for the year 2020, which were identified using ICD-10 codes and case definition guidelines. COVID-19 signs and symptoms were higher in unstructured clinical notes than in structured coded data. COVID-19 cases were categorized as 218 (66.46%) “confirmed cases”, 10 (3.05%) “probable cases”, 9 (2.74%) “suspected cases”, and 91 (27.74%) “no sufficient evidence”. The identification of “probable cases” and “suspected cases” was more challenging than “confirmed cases” where laboratory confirmation was sufficient. The accuracy of the COVID-19 case identification was higher in laboratory tests than in ICD-10 codes. When validating using laboratory results, we found that ICD-10 codes were inaccurately assigned to 238 (72.56%) patients’ records. “No sufficient evidence” records might indicate inaccurate and incomplete EHR data. Data quality evaluation should be incorporated to ensure patient safety and data readiness for secondary use research and predictive analytics. We encourage educational and training efforts to motivate healthcare providers regarding the importance of accurate documentation at the point-of-care.
Knowledge, Attitudes, and Practices towards Food Poisoning among Parents in Aseer Region, Southwestern Saudi Arabia
Authors: Shati Ayed A. , Al Qahtani Saleh M. , Shehata Shehata F. , Alqahtani Youssef A. , Aldarami Mohammed S. , Alqahtani Sultan A. , Alqahtani Yahya M. , Siddiqui Aesha F. , Khalil Shamsun N.
Published: November 2021

Background: Food poisoning is caused by eating contaminated food. Improper food safety knowledge, poor food handling, and inadequate personal hygiene may allow microbes to grow in sufficient numbers to cause a food-borne illness. The aim of this paper was to assess the knowledge, attitudes, and practices regarding food poisoning and its determinants of parents in the Aseer region of Saudi Arabia. Methodology: This is a descriptive cross-sectional study conducted on 3011 parents in the Aseer region in the southwest region of Saudi Arabia. An online questionnaire was used to collect the data. The level of knowledge of the participants was scored as a percentage and further classified as “good” or “poor”. Attitudes were classified as “positive”, “neutral”, or “negative” based on a calculated composite mean score. The participants were asked about standard food hygiene practices, and the practices were recorded based on how often they were performed, with the results recorded as “usually”, “sometimes”, or “never”. Results: The age range of the parents was between 18 and 65 years old, with a mean age of 28.9 ± 10.4 years. Among the participants, 96.2% were Saudi, and 81.8% were female. Almost 53% of the fathers and 41% of the mothers were university graduates. About 55% of the mothers were housewives. Almost equal proportions of the parents had “good” and “poor” levels of knowledge on food poisoning. Around 41% of the parents had positive attitudes towards safe food consumption. Older parents (defined as above 30 years of age), males, university graduates, and urban residents had significantly higher levels of knowledge regarding food poisoning. Conclusions: This study provided much needed information on the knowledge, attitudes, and practices related to food poisoning among parents in the Aseer region of Saudi Arabia. Although most respondents reported satisfactory practices, gaps were identified in knowledge and attitudes. This suggests a need for further investigation focused on the observed practices and strengthening health education activities for the community.
Effect of Storage Conditions and Cooking Methods on Chlorophyll, Glucosinolate, and Sulforaphane Content in Broccoli Florets
Authors: Wang Junwei , Mao Shuxiang , Yuan Yiming , Zhang Na , Wu Qi , Liang Mantian , Wang Shengze , Huang Ke , Wu Qiuyun
Published: November 2021

The effects of storage conditions and cooking methods on chlorophyll, glucosinolate (GSL), and sulforaphane content in broccoli florets were investigated in this study. For the storage experiment, fresh broccoli florets were stored for 2, 4, and 6 days at 10, 4, and 0 °C with or without 1-methylcyclopropene (1-MCP) treatment. For the cooking experiment, fresh broccoli florets were cooked for 1, 3, 5, 7, and 9 min under three cooking methods, namely, steaming, microwaving, and boiling. Results showed that the contents of chlorophyll, aliphatic GSL, indole GSL, and sulforaphane in broccoli florets of two cultivars decreased with prolonged storage time. The retained contents of chlorophyll, GSLs, and sulforaphane under 0 °C storage condition were significantly higher than those under 10 °C storage condition after 6 days of storage. The sulforaphane content was increased by 1-MCP treatment but differed among varieties. The cooking experiment showed that aliphatic GSL content decreased with increased cooking time under three cooking methods, and indole GSL and sulforaphane contents had a fluctuating trend with increasing cooking time after steaming and microwaving. Sulforaphane content increased by 17.15–50.16% relative to that in fresh broccoli florets and was considerably affected by cooking time. The highest level of sulforaphane content was retained for 7 min during steaming or 5 min during microwaving. Therefore, the combination of 1-MCP treatment and 0 °C storage condition had the best performance in preserving chlorophyll, GSLs, and sulforaphane. Moreover, steaming for 7 min or microwaving for 5 min is a more effective method for preserving the quality and increasing the sulforaphane content of broccoli florets than boiling.
Electrophoretic Determination of Trimethylamine (TMA) in Biological Samples as a Novel Potential Biomarker of Cardiovascular Diseases Methodological Approach
Authors: Konop Marek , Rybka Mateusz , Waraksa Emilia , Laskowska Anna , Nowiński Artur , Grzywacz Tomasz , Karwowski Wojciech , Drapała Adrian , Kłodzińska Ewa
Published: November 2021

In competitive athletes, the differential diagnosis between nonpathological changes in cardiac morphology associated with training (commonly referred to as “athlete’s heart”) and certain cardiac diseases with the potential for sudden death is an important and not uncommon clinical problem. The use of noninvasive, fast, and cheap analytical techniques can help in making diagnostic differentiation and planning subsequent clinical strategies. Recent studies have demonstrated the role of gut microbiota and their metabolites in the onset and the development of cardiovascular diseases. Trimethylamine (TMA), a gut bacteria metabolite consisting of carnitine and choline, has recently emerged as a potentially toxic molecule to the circulatory system. The present work aims to develop a simple and cost-effective capillary electrophoresis-based method for the determination of TMA in biological samples. Analytical characteristics of the proposed method were evaluated through the study of its linearity (R2 > 0.9950) and the limit of detection and quantification (LOD = 1.2 µg/mL; LOQ = 3.6 µg/mL). The method shows great potential in high-throughput screening applications for TMA analysis in biological samples as a novel potential biomarker of cardiovascular diseases. The proposed electrophoretic method for the determination of TMA in biological samples from patients with cardiac disease is now in progress.
Spatial Distribution of Hospitalizations for Ischemic Heart Diseases in the Central Region of Asturias, Spain
Authors: Martínez-Pérez Isabel , González-Iglesias Verónica , Rodríguez Suárez Valentín , Fernández-Somoano Ana
Published: November 2021

Hospitalizations for ischemic heart disease have an uneven distribution throughout Spain, in which Asturias is the community with the highest rates of acute myocardial infarction (AMI) and angina pectoris (AP). Cardiovascular diseases are related to environmental, socioeconomic and previous medical conditions, which result in geographical differences in the incidence of hospital admissions and mortality. The goal of this study was to describe the spatial distribution of hospital admissions in the central area of Asturias and explore the existence of spatial patterns or clusters. Urgent hospital admissions for AMI and angina AP in the hospitals of the central area of Asturias were registered, geocoded and grouped by census tracts. Standardized admission ratio, smoothed relative risk, posterior risk probability and analysis of spatial clusters between relative risks throughout the study area were calculated and mapped. Geographical differences were found in the distribution of hospital admissions for AMI and AP across the area and between men and women. The cluster analysis indicated contiguous census tracts with high relative risk values in the northwest region of the study area and low relative risk in the east, particularly for men. The geographical analysis shows the existence of patterns and spatial clusters in the incidence of AMI and AP, for both men and women, in the central area of Asturias.
The Achilles Heel of Technology: How Does Technostress Affect University Students’ Wellbeing and Technology-Enhanced Learning
Authors: Wang Xinghua , Li Zhenyu , Ouyang Zhangdong , Xu Yanping
Published: November 2021

This study investigated the effect of technostress on university students’ wellbeing and technology-enhanced learning (TEL) through the stressor-strain-outcome model. Interviews were first used to contextualize and inform the development of the survey instrument. Then, survey data from 796 participants were collected and analyzed using partial least squares structural equation modeling. The findings indicate that technostress creators, including techno-complexity, techno-insecurity, and techno-uncertainty, were significantly associated with students’ burnout in TEL, which in turn was negatively associated with their self-regulation, learning agency, and persistence in TEL. Group comparison analyses based on gender, academic disciplines, and willingness to join TEL show that the negative associations between burnout and self-regulation, learning agency, and persistence in TEL were significantly stronger for male students than female students. Similar findings were also found for students joining TEL willingly and unwillingly, with the latter being more strongly affected by burnout. In addition, the positive association between techno-complexity and burnout was greater for students from social sciences than those from engineering and natural sciences. The findings of this study can inform future implementation decisions of TEL in higher education and strategies to preserve university students’ wellbeing.
“With Enthusiasm and Energy throughout the Day”: Promoting a Physically Active Lifestyle in People with Intellectual Disability by Using a Participatory Approach
Authors: Mauro Antonia , Bruland Dirk , Latteck Änne-Dörte
Published: November 2021

People with intellectual disabilities have a comparatively low level of physical activity and are affected by associated numerous impairments and diseases. However, target group specific interventions and concepts aiming at sustainable physical activity-related behavior change in everyday life are rare and the needs and perspectives of the target group have hardly been considered so far. Therefore, a target-group oriented intervention was developed. The research and developmental process was characterized by a participatory approach, involving people with intellectual disabilities throughout the whole process. For example, the interview guideline, design of the interview situation and ways of communicating were developed in a participatory manner. Twenty-four qualitative interviews with people with intellectual disabilities were conducted to explore individual physical activity-related experiences and strategies. Individual and contextual influences on physical activity were identified. Interview results were used to conceptualize an intervention that aims at promoting physical activity in the everyday life of people with intellectual disabilities by strengthening their self-management strategies. The intervention was tested in practice and modified based on communicative validation methods. Good acceptance in the long term is also expected, as the intervention takes place in people’s living environment, is socially embedded and builds upon the needs of the target group.
Engaging People and Co-Producing Research with Persons and Communities to Foster Person-Centred Care: A Meta-Synthesis
Authors: Acha Beatriz Vallina , Ferrandis Estrella Durá , Ferri Sanz Mireia , García Maite Ferrando
Published: November 2021

Introduction: Engagement and co-production in healthcare research and innovation are crucial for delivering person-centred interventions in underserved communities, but the knowledge of effective strategies to target this population is still vague, limiting the provision of person-centred care. Our research aimed to identify essential knowledge to foster engagement and co-production. Materials and Methods: A meta-synthesis research design was used to compile existing qualitative research papers on health communication, engagement, and empowerment in vulnerable groups in high-income countries (HICs) from 2008 to 2018. A total of 23 papers were selected and analysed. Results: ‘Design and recruitment’ and ‘engagement and co-production’ thematic areas are presented considering the factors related to researcher–communities attunement and the strategical plans for conducting research. The insights are discussed in light of the literature. Long-term alliances, sustainable structures, and strengthened bonds are critical factors for producing real long-term change, empowering persons and communities, and paving the way to person-centred care. Conclusions: The enhancement of the recruitment, involvement, and empowerment of traditionally disengaged communities and individuals depends on the awareness and analysis of social determinants, power differentials and specific tactics, and the capacity of researchers and individuals to apply all these principles in real-world practice.